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 GRN 2896 broad.mit.edu 37 17 42427699 42427699 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr17:42427699C>T ENST00000053867.3 + 5 515 c.453C>T c.(451-453)ccC>ccT p.P151P GRN_ENST00000589265.1_Silent_p.P151P NM_002087.2 NP_002078.1 P28799 GRN_HUMAN granulin 151 signal transduction extracellular space cytokine activity|growth factor activity central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.189) GGTGCTGCCCCATGCCCCAGG 0.617000 23 90 0 0 0.00229938 0 0 PCDHA8 56140 broad.mit.edu 37 5 140221567 140221567 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr5:140221567G>A ENST00000531613.1 + 1 661 c.661G>A c.(661-663)Gag>Aag p.E221K PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.E221K|PCDHA6_ENST00000527624.1_Intron NM_018911.2 NP_061734.1 NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGGCAAACCTGAGCTCACAGG 0.468000 10 47 0 0 0.000673444 0 0 RBP3 5949 broad.mit.edu 37 10 48387899 48387899 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr10:48387899G>A ENST00000224600.4 - 1 3092 c.2979C>T c.(2977-2979)tcC>tcT p.S993S NM_002900.2 NP_002891.1 P10745 RET3_HUMAN retinol binding protein 3, interstitial 993 4 X approximate tandem repeats. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Vitamin A(DB00162) GTGGGTCTCCGGAGAGCATCT 0.602000 12 80 0 0 0.000978159 0 0 HSP90AB1 3326 broad.mit.edu 37 6 44217790 44217790 + Missense_Mutation SNP C C A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr6:44217790C>A ENST00000371554.1 + 5 761 c.547C>A c.(547-549)Ctc>Atc p.L183I HSP90AB1_ENST00000353801.3_Missense_Mutation_p.L183I|HSP90AB1_ENST00000371646.5_Missense_Mutation_p.L183I P08238 HS90B_HUMAN heat shock protein 90kDa alpha (cytosolic), class B member 1 183 axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein cytosol|melanosome ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2) 33 all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) CAAAGTGATCCTCCATCTTAA 0.433000 12 81 2.31682e-05 9.07205e-05 0.000308642 1 0 ERBB4 2066 broad.mit.edu 37 2 212576792 212576792 + Silent SNP T T G TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr2:212576792T>G ENST00000342788.4 - 9 1417 c.1107A>C c.(1105-1107)ctA>ctC p.L369L ERBB4_ENST00000402597.1_Silent_p.L369L|ERBB4_ENST00000436443.1_Silent_p.L369L NM_005235.2 NP_005226.1 Q15303 ERBB4_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4 369 cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 179 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) TACCAGTGACTAGAAAGATCA 0.343000 TSP Lung(8;0.080) 10 26 0 0 0.00136819 0 0 EYA2 2139 broad.mit.edu 37 20 45702824 45702824 + Nonsense_Mutation SNP C C T rs149474635 TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr20:45702824C>T ENST00000327619.5 + 7 885 c.511C>T c.(511-513)Cag>Tag p.Q171* EYA2_ENST00000317304.6_Nonsense_Mutation_p.Q171*|EYA2_ENST00000357410.3_Nonsense_Mutation_p.Q171* NM_005244.4 NP_005235.3 O00167 EYA2_HUMAN eyes absent homolog 2 (Drosophila) 171 DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus magnesium ion binding|protein binding|protein tyrosine phosphatase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0241) CGGCTTCCCCCAGAGCCAGTA 0.597000 8 76 0 0 0.000673444 0 0 SLCO5A1 81796 broad.mit.edu 37 8 70585315 70585315 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr8:70585315G>A ENST00000260126.3 - 10 3042 c.2336C>T c.(2335-2337)aCc>aTc p.T779I SLCO5A1_ENST00000530307.1_Missense_Mutation_p.T724I|SLCO5A1_ENST00000524945.1_3'UTR NM_030958.2 NP_112220.2 Q9H2Y9 SO5A1_HUMAN solute carrier organic anion transporter family, member 5A1 779 integral to membrane|plasma membrane transporter activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) CTCACTCACGGTGCTCAGGGG 0.502000 11 87 0 0 0.00136819 0 0 GLT1D1 144423 broad.mit.edu 37 12 129383812 129383812 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr12:129383812G>A ENST00000442111.2 + 4 443 c.355G>A c.(355-357)Gaa>Aaa p.E119K GLT1D1_ENST00000281703.6_Missense_Mutation_p.E119K|GLT1D1_ENST00000542193.1_Missense_Mutation_p.E20K|GLT1D1_ENST00000537468.1_Missense_Mutation_p.E108K Q96MS3 GL1D1_HUMAN glycosyltransferase 1 domain containing 1 119 biosynthetic process extracellular region transferase activity, transferring glycosyl groups breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1) 26 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019) GTCAATGAAGGAAATGGCACA 0.378000 15 87 0 0 0.000958276 0 0 PREX2 80243 broad.mit.edu 37 8 69021761 69021761 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr8:69021761G>A ENST00000288368.4 + 25 3326 c.3049G>A c.(3049-3051)Gaa>Aaa p.E1017K NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 1017 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 TCTGCTAAAAGAAGAAGACTT 0.478000 9 51 0 0 0.000442599 0 0 RYR2 6262 broad.mit.edu 37 1 237580356 237580356 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:237580356C>T ENST00000366574.2 + 11 1098 c.781C>T c.(781-783)Cat>Tat p.H261Y RYR2_ENST00000360064.6_Missense_Mutation_p.H259Y|RYR2_ENST00000542537.1_Missense_Mutation_p.H245Y NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 261 MIR 3. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CAGAACTGTTCATTATGAAGG 0.393000 7 39 0 0 0.000157383 0 0 BIRC6 57448 broad.mit.edu 37 2 32832604 32832604 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr2:32832604C>T ENST00000421745.2 + 72 14287 c.14153C>T c.(14152-14154)cCc>cTc p.P4718L NM_016252.3 NP_057336.3 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 4718 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) AGAGGCACTCCCAGTGGCACA 0.418000 15 120 0 0 0.00244969 0 0 CNR1 1268 broad.mit.edu 37 6 88854232 88854232 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr6:88854232G>A ENST00000537554.1 - 2 4324 c.762C>T c.(760-762)ggC>ggT p.G254G CNR1_ENST00000549890.1_Silent_p.G254G|CNR1_ENST00000468898.1_Silent_p.G221G|CNR1_ENST00000369501.2_Silent_p.G254G|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000549716.1_Silent_p.G193G|CNR1_ENST00000369499.2_Silent_p.G254G|CNR1_ENST00000535130.1_Silent_p.G254G|CNR1_ENST00000428600.2_Silent_p.G254G NM_001160226.1|NM_001160258.1 NP_001153698.1|NP_001153730.1 P21554 CNR1_HUMAN cannabinoid receptor 1 (brain) 254 G-protein signaling, coupled to cAMP nucleotide second messenger integral to plasma membrane cannabinoid receptor activity|protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1) 37 all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011) BRCA - Breast invasive adenocarcinoma(108;0.15) Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155) CGCAGTTCCAGCCCAGGAGAG 0.542000 8 69 0 0 0.000442599 0 0 RAPGEF5 9771 broad.mit.edu 37 7 22196440 22196440 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr7:22196440C>T ENST00000344041.6 - 16 1477 c.1165G>A c.(1165-1167)Gaa>Aaa p.E389K RAPGEF5_ENST00000401957.2_Missense_Mutation_p.E239K NM_012294.3 NP_036426.3 Q92565 RPGF5_HUMAN Rap guanine nucleotide exchange factor (GEF) 5 239 Ras-GEF. nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction nucleus GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1) 6 TCCTCCGTTTCAGTCACAGTT 0.453000 7 61 0 0 0.000274275 0 0 SRRM4 84530 broad.mit.edu 37 12 119554778 119554778 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr12:119554778G>A ENST00000267260.4 + 4 790 c.402G>A c.(400-402)aaG>aaA p.K134K NM_194286.3 NP_919262.2 A7MD48 SRRM4_HUMAN serine/arginine repetitive matrix 4 134 Lys-rich.|Ser-rich. cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing nucleus mRNA binding breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1) 24 TCAAGAAAAAGAAGAAGAAAA 0.488000 6 40 0 0 0.00198382 0 0 OR5M1 390168 broad.mit.edu 37 11 56380268 56380268 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr11:56380268G>A ENST00000526538.1 - 1 710 c.711C>T c.(709-711)gcC>gcT p.A237A NM_001004740.1 NP_001004740.1 Q8NGP8 OR5M1_HUMAN olfactory receptor, family 5, subfamily M, member 1 237 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1) 12 ACGTAGAAAAGGCTTTGTGCC 0.448000 6 48 0 0 0.00198382 0 0 SLC4A11 83959 broad.mit.edu 37 20 3211822 3211822 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr20:3211822G>A ENST00000380059.3 - 9 1245 c.1144C>T c.(1144-1146)Ccc>Tcc p.P382S SLC4A11_ENST00000380056.3_Missense_Mutation_p.P355S|SLC4A11_ENST00000474451.1_5'UTR|SLC4A11_ENST00000539553.1_Missense_Mutation_p.P339S NM_001174090.1 NP_001167561.1 Q8NBS3 S4A11_HUMAN solute carrier family 4, sodium borate transporter, member 11 355 Membrane (bicarbonate transporter). cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system basolateral plasma membrane|integral to membrane bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1) 40 GGGTACAAGGGGAACCTGCGT 0.602000 27 91 0 0 0.00178596 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110457514 110457514 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr8:110457514C>T ENST00000378402.5 + 38 5520 c.5416C>T c.(5416-5418)Cca>Tca p.P1806S NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 1806 IPT/TIG 10. immune response cytosol|extracellular space|integral to membrane receptor activity p.P1808S(1) 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) GACTCCTCTCCCAGTTGGACA 0.468000 HNSCC(38;0.096) 5 98 0 0 0.00198382 0 0 KRT3 3850 broad.mit.edu 37 12 53189324 53189324 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr12:53189324C>T ENST00000417996.2 - 1 577 c.503G>A c.(502-504)gGg>gAg p.G168E KRT3_ENST00000309505.3_Missense_Mutation_p.G168E NM_057088.2 NP_476429.2 P12035 K2C3_HUMAN keratin 3 168 Gly-rich.|Head. epithelial cell differentiation|intermediate filament cytoskeleton organization keratin filament structural molecule activity NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1) 23 CTGAATTCCCCCAGGAAAGCC 0.607000 6 12 0 0 0.00116845 0 0 PAPPA2 60676 broad.mit.edu 37 1 176661352 176661352 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:176661352G>A ENST00000367662.3 + 6 3686 c.2522G>A c.(2521-2523)aGa>aAa p.R841K NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 841 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 ACTGAAAGCAGAAAGCCCACC 0.498000 31 135 0 0 0.000692331 0 0 OR8B8 26493 broad.mit.edu 37 11 124310895 124310895 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr11:124310895G>A ENST00000328064.2 - 1 159 c.87C>T c.(85-87)ttC>ttT p.F29F NM_012378.1 NP_036510.1 Q15620 OR8B8_HUMAN olfactory receptor, family 8, subfamily B, member 8 29 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 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) CTAGAAACAGGAAGAAGAGGG 0.507000 7 63 0 0 0.000157383 0 0 PRKCB 5579 broad.mit.edu 37 16 24166021 24166021 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr16:24166021G>A ENST00000303531.7 + 10 1234 c.1082G>A c.(1081-1083)cGa>cAa p.R361Q PRKCB_ENST00000321728.7_Missense_Mutation_p.R361Q NM_002738.6 NP_002729.2 P05771 KPCB_HUMAN protein kinase C, beta 361 Protein kinase. apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent cytosol|nucleus|plasma membrane androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3) 9 Vitamin E(DB00163) CTTTCAGAACGAAAAGGCACA 0.507000 5 54 0 0 0.000157383 0 0 SYT11 23208 broad.mit.edu 37 1 155837946 155837946 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:155837946C>T ENST00000368324.4 + 2 478 c.225C>T c.(223-225)atC>atT p.I75I SYT11_ENST00000539162.1_Intron NM_152280.4 NP_689493.3 Q9BT88 SYT11_HUMAN synaptotagmin XI 75 cell junction|synaptic vesicle membrane protein binding|transporter activity breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;0.000162) AGAAGAAAATCATCAAAGTGC 0.507000 26 97 0 0 0.00047179 0 0 TCEB3B 51224 broad.mit.edu 37 18 44560333 44560333 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr18:44560333C>T ENST00000332567.4 - 1 1655 c.1303G>A c.(1303-1305)Gaa>Aaa p.E435K KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000245121.5_Intron NM_016427.2 NP_057511.2 Q8IYF1 ELOA2_HUMAN transcription elongation factor B polypeptide 3B (elongin A2) 435 regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 GACTGGCTTTCCTGGACAGGA 0.577000 22 108 0 0 0.00229938 0 0 LCE1C 353133 broad.mit.edu 37 1 152777644 152777644 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:152777644C>T ENST00000368768.1 - 2 361 c.311G>A c.(310-312)aGc>aAc p.S104N LCE1C_ENST00000607093.1_Missense_Mutation_p.S104N NM_178351.3 NP_848128.1 Q5T751 LCE1C_HUMAN late cornified envelope 1C 104 Gly-rich. keratinization NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1) 9 Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) GCCACAGCAGCTGGAGCCCCC 0.672000 8 55 0 0 0.000308642 0 0 TUBA3C 7278 broad.mit.edu 37 13 19751676 19751676 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr13:19751676G>A ENST00000400113.3 - 4 551 c.447C>T c.(445-447)ttC>ttT p.F149F NM_006001.2 NP_005992.1 Q13748 TBA3C_HUMAN tubulin, alpha 3c 149 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1) 72 all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108) GCAGAGATGCGAACCCAGAGC 0.567000 11 71 0 0 0.000673444 0 0 FAM134A 79137 broad.mit.edu 37 2 220047132 220047132 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr2:220047132C>T ENST00000430297.2 + 9 1549 c.1413C>T c.(1411-1413)ccC>ccT p.P471P NM_024293.4 NP_077269.3 Q8NC44 F134A_HUMAN family with sequence similarity 134, member A 471 endoplasmic reticulum|integral to membrane central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2) 19 Renal(207;0.0915) Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CACCTGTTCCCCAGGACTCAC 0.617000 13 63 0 0 0.000308642 0 0 COLEC12 81035 broad.mit.edu 37 18 334970 334970 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr18:334970C>T ENST00000400256.3 - 6 1795 c.1588G>A c.(1588-1590)Ggc>Agc p.G530S NM_130386.2 NP_569057.1 Q5KU26 COL12_HUMAN collectin sub-family member 12 530 Collagen-like 3. carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization collagen|integral to membrane galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 46 all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426) CCTGGTGGGCCCGGGGGGCCT 0.716000 3 14 0 0 6.4e-05 0 0 SLC13A4 26266 broad.mit.edu 37 7 135375956 135375956 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr7:135375956C>T ENST00000354042.4 - 13 2125 c.1436G>A c.(1435-1437)gGt>gAt p.G479D C7orf73_ENST00000422968.1_Intron NM_012450.2 NP_036582.2 Q9UKG4 S13A4_HUMAN solute carrier family 13 (sodium/sulfate symporter), member 4 479 integral to plasma membrane sodium:sulfate symporter activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2) 24 TACCTTGCTACCAGAAGCCAG 0.502000 5 61 0 0 0.00116845 0 0 ANAPC1 64682 broad.mit.edu 37 2 112541923 112541923 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr2:112541923G>A ENST00000341068.3 - 41 5744 c.4972C>T c.(4972-4974)Cca>Tca p.P1658S NM_022662.3 NP_073153.1 Q9H1A4 APC1_HUMAN anaphase promoting complex subunit 1 1658 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 TGGAGTTCTGGAAGAAGGGTA 0.438000 13 97 0 0 0.000308642 0 0 RTEL1 51750 broad.mit.edu 37 20 62316917 62316917 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr20:62316917C>T ENST00000318100.4 + 15 2060 c.1233C>T c.(1231-1233)tcC>tcT p.S411S RTEL1_ENST00000508582.2_Silent_p.S435S|RTEL1-TNFRSF6B_ENST00000482936.1_Silent_p.S411S|RTEL1_ENST00000370018.3_Silent_p.S411S|RTEL1_ENST00000360203.5_Silent_p.S411S Q9NZ71 RTEL1_HUMAN regulator of telomere elongation helicase 1 411 DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13) Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107) GCCCTGGTTCCCCAGCAGGGC 0.652000 9 36 0 0 0.00185496 0 0 DZIP3 9666 broad.mit.edu 37 3 108406916 108406916 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr3:108406916C>T ENST00000361582.3 + 29 3473 c.3243C>T c.(3241-3243)tcC>tcT p.S1081S DZIP3_ENST00000463306.1_Silent_p.S1081S NM_014648.3 NP_055463.1 Q86Y13 DZIP3_HUMAN DAZ interacting zinc finger protein 3 1081 protein polyubiquitination cytoplasm polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 45 GCAAGATTTCCCAGTTTATTG 0.348000 5 48 0 0 0.000602214 0 0 PPAPDC3 84814 broad.mit.edu 37 9 134165620 134165620 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr9:134165620G>A ENST00000372264.3 + 1 540 c.236G>A c.(235-237)gGc>gAc p.G79D PPAPDC3_ENST00000372261.1_Missense_Mutation_p.G79D NM_032728.3 NP_116117.3 Q8NBV4 PPAC3_HUMAN phosphatidic acid phosphatase type 2 domain containing 3 79 interaction with MTOR (By similarity). endoplasmic reticulum membrane|integral to membrane|nuclear envelope hydrolase activity breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|skin(1) 16 all_hematologic(7;0.0119) OV - Ovarian serous cystadenocarcinoma(145;1.22e-05)|Epithelial(140;0.000173) TCCTTCAAGGGCATCGCCTTC 0.662000 18 58 0 0 0.00121646 0 0 JAK2 3717 broad.mit.edu 37 9 5044450 5044450 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr9:5044450G>A ENST00000381652.3 + 5 892 c.398G>A c.(397-399)cGg>cAg p.R133Q JAK2_ENST00000544510.1_5'UTR|JAK2_ENST00000539801.1_Missense_Mutation_p.R133Q NM_004972.3 NP_004963.1 O60674 JAK2_HUMAN Janus kinase 2 133 FERM.|Interaction with cytokine/interferon/growth hormone receptors (By similarity). actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein caveola|cytoskeleton|cytosol|endomembrane system|nucleus ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18) breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1) 32998 all_hematologic(13;0.137) Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147) GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133) AGAGCCTATCGGCATGGAATA 0.383000 1 """T, Mis, O""" """ETV6, PCM1, BCR""" """ALL, AML, MPD, CML""" Polycythemia Vera, Familial 6 41 0 0 0.00116845 0 0 LIPI 149998 broad.mit.edu 37 21 15561360 15561360 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr21:15561360G>A ENST00000344577.2 - 2 515 c.490C>T c.(490-492)Ctt>Ttt p.L164F LIPI_ENST00000536861.1_Missense_Mutation_p.L143F NM_198996.2 NP_945347.1 Q6XZB0 LIPI_HUMAN lipase, member I 143 lipid catabolic process extracellular region|extracellular space|membrane|plasma membrane heparin binding|phospholipase activity p.L164V(1) endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1) 54 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166) CTTACCAAAAGATTTTTAATG 0.333000 4 41 0 0 0.000602214 0 0 PCDHA11 56138 broad.mit.edu 37 5 140248762 140248762 + Missense_Mutation SNP A A T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr5:140248762A>T ENST00000398640.2 + 1 74 c.74A>T c.(73-75)gAg>gTg p.E25V PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron NM_018902.3 NP_061725.1 breast(1)|lung(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAATTCTGGGAGGTGGGGAGC 0.597000 19 112 0 0 0.00188189 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33637760 33637760 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr5:33637760G>A ENST00000504830.1 - 12 2145 c.1810C>T c.(1810-1812)Cgg>Tgg p.R604W ADAMTS12_ENST00000352040.3_Missense_Mutation_p.R604W|ADAMTS12_ENST00000504582.1_5'UTR NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 604 Cys-rich. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 TGCATCTGCCGAAATGTTGGT 0.468000 HNSCC(64;0.19) 6 52 0 0 0.00116845 0 0 LONRF2 164832 broad.mit.edu 37 2 100903447 100903447 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr2:100903447G>A ENST00000393437.3 - 11 2638 c.1999C>T c.(1999-2001)Ctc>Ttc p.L667F LONRF2_ENST00000409647.1_Missense_Mutation_p.L424F NM_198461.3 NP_940863.3 Q1L5Z9 LONF2_HUMAN LON peptidase N-terminal domain and ring finger 2 667 Lon. proteolysis ATP-dependent peptidase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 34 CGATCCTGGAGAGACGCGAAC 0.478000 9 37 0 0 0.000274275 0 0 C1QB 713 broad.mit.edu 37 1 22987377 22987377 + Missense_Mutation SNP G G A rs3211003 TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:22987377G>A ENST00000509305.1 + 3 600 c.254G>A c.(253-255)gGa>gAa p.G85E C1QB_ENST00000314933.6_Missense_Mutation_p.G87E P02746 C1QB_HUMAN complement component 1, q subcomponent, B chain 87 Collagen-like 1.|Collagen-like 2. N -> D (in Ref. 4; AA sequence). complement activation, classical pathway|innate immune response collagen|complement component C1 complex breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1) 14 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) GGGAATCCAGGAAAAGTCGGC 0.622000 5 48 0 0 0.00116845 0 0 DACH1 1602 broad.mit.edu 37 13 72131213 72131213 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr13:72131213C>T ENST00000305425.4 - 6 1941 c.1519G>A c.(1519-1521)Gga>Aga p.G507R DACH1_ENST00000313174.7_Intron|DACH1_ENST00000359684.2_Missense_Mutation_p.G559R|DACH1_ENST00000354591.4_Intron NM_080759.4 NP_542937.2 Q9UI36 DACH1_HUMAN dachshund homolog 1 (Drosophila) 557 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|nucleotide binding|protein binding NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198) GBM - Glioblastoma multiforme(99;0.00032) GCCAAATCTCCCTCTTTGGGC 0.418000 6 40 0 0 0.00116845 0 0 ACKR3 57007 broad.mit.edu 37 2 237489144 237489144 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr2:237489144G>A ENST00000272928.3 + 2 346 c.36G>A c.(34-36)ggG>ggA p.G12G NM_020311.2 NP_064707.1 atypical chemokine receptor 3 CAGAGCCAGGGAACTTCTCGG 0.507000 5 65 0 0 0.000602214 0 0 SH3PXD2B 285590 broad.mit.edu 37 5 171766297 171766297 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr5:171766297G>A ENST00000311601.5 - 13 1982 c.1812C>T c.(1810-1812)gcC>gcT p.A604A SH3PXD2B_ENST00000519643.1_Intron NM_001017995.2 NP_001017995.1 A1X283 SPD2B_HUMAN SH3 and PX domains 2B 604 adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly cell junction|cell projection|cytoplasm|podosome phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 36 Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175) Medulloblastoma(196;0.0207)|all_neural(177;0.0625) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) TCACTTCCTTGGCCAAGACCT 0.557000 14 83 0 0 0.00185496 0 0 MBD5 55777 broad.mit.edu 37 2 149227488 149227488 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr2:149227488G>A ENST00000407073.1 + 9 2973 c.1976G>A c.(1975-1977)aGa>aAa p.R659K MBD5_ENST00000404807.1_Missense_Mutation_p.R659K NM_018328.4 NP_060798.2 Q9P267 MBD5_HUMAN methyl-CpG binding domain protein 5 659 chromosome|nucleus chromatin binding|DNA binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 62 BRCA - Breast invasive adenocarcinoma(221;0.0569) TTGCGGAAAAGAAAACAACCA 0.478000 5 27 0 0 0.00198382 0 0 JPH2 57158 broad.mit.edu 37 20 42788512 42788512 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr20:42788512C>T ENST00000372980.3 - 2 1787 c.915G>A c.(913-915)gtG>gtA p.V305V NM_020433.4 NP_065166.2 Q9BR39 JPH2_HUMAN junctophilin 2 305 calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) AGCGTTCGCTCACGCCGAAGC 0.687000 4 27 0 0 0.00024832 0 0 ALOX15B 247 broad.mit.edu 37 17 7950312 7950312 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr17:7950312G>A ENST00000380183.4 + 10 1514 c.1375G>A c.(1375-1377)Gat>Aat p.D459N ALOX15B_ENST00000572022.1_Missense_Mutation_p.D459N|ALOX15B_ENST00000380173.2_Missense_Mutation_p.D430N|ALOX15B_ENST00000573359.1_Missense_Mutation_p.D430N NM_001141.2 NP_001132.2 O15296 LX15B_HUMAN arachidonate 15-lipoxygenase, type B 459 Lipoxygenase. induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation cytoplasm arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 24 TCTGCCTGAGGATATCCGGAC 0.547000 10 63 0 0 0.000673444 0 0 CHRM3 1131 broad.mit.edu 37 1 240071876 240071876 + Missense_Mutation SNP C C A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:240071876C>A ENST00000255380.4 + 5 1904 c.1125C>A c.(1123-1125)agC>agA p.S375R NM_000740.2 NP_000731.1 P20309 ACM3_HUMAN cholinergic receptor, muscarinic 3 375 cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1) 51 Ovarian(103;0.127) all_cancers(173;0.00567)|all_neural(198;0.203) OV - Ovarian serous cystadenocarcinoma(106;0.00989) Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505) CGGGTCACAGCACCATCCTCA 0.602000 5 19 0.000602214 0.00234494 0.000602214 1 0 TNFRSF25 8718 broad.mit.edu 37 1 6522219 6522219 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:6522219G>A ENST00000377782.3 - 9 854 c.787C>T c.(787-789)Ccc>Tcc p.P263S TNFRSF25_ENST00000356876.3_Missense_Mutation_p.P254S|TNFRSF25_ENST00000351748.3_Missense_Mutation_p.P71S|TNFRSF25_ENST00000351959.5_Missense_Mutation_p.P217S|TNFRSF25_ENST00000348333.3_Missense_Mutation_p.P209S NM_148965.1 NP_683866.1 Q93038 TNR25_HUMAN tumor necrosis factor receptor superfamily, member 25 254 apoptosis|induction of apoptosis by extracellular signals cytosol|extracellular region|integral to plasma membrane tumor necrosis factor receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|lung(4)|prostate(1)|stomach(1) 10 Ovarian(185;0.0386)|all_lung(157;0.154) all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Acute lymphoblastic leukemia(12;0.00157)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448) Epithelial(90;4.58e-35)|GBM - Glioblastoma multiforme(13;3.06e-27)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00158)|READ - Rectum adenocarcinoma(331;0.0419) CTGTCCAAGGGTGACAGATGG 0.632000 9 79 0 0 0.000442599 0 0 ANGPTL5 253935 broad.mit.edu 37 11 101773424 101773424 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr11:101773424G>A ENST00000334289.3 - 6 1063 c.468C>T c.(466-468)acC>acT p.T156T NM_178127.4 NP_835228.2 Q86XS5 ANGL5_HUMAN angiopoietin-like 5 156 Fibrinogen C-terminal. signal transduction extracellular space receptor binding breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3) 29 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043) BRCA - Breast invasive adenocarcinoma(274;0.0328) CAGAGCCAATGGTATCCTTAA 0.343000 17 96 0 0 0.000958276 0 0 MXRA5 25878 broad.mit.edu 37 X 3238787 3238787 + Missense_Mutation SNP C C T rs150094241 byFrequency TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chrX:3238787C>T ENST00000217939.6 - 5 5093 c.4939G>A c.(4939-4941)Gaa>Aaa p.E1647K NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 1647 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) GTAGTTATTTCCGGTTTGTTG 0.453000 32 94 0 0 0.0024448 0 0 PABPC1L 80336 broad.mit.edu 37 20 43561048 43561048 + Nonsense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr20:43561048G>A ENST00000255136.3 + 9 1387 c.1305G>A c.(1303-1305)tgG>tgA p.W435* PABPC1L_ENST00000537323.1_Intron|PABPC1L_ENST00000490798.1_Intron|PABPC1L_ENST00000217073.2_Nonsense_Mutation_p.W435*|PABPC1L_ENST00000372819.1_5'UTR|PABPC1L_ENST00000372824.1_5'UTR NM_001124756.1 NP_001118228.1 Q4VXU2 PAP1L_HUMAN poly(A) binding protein, cytoplasmic 1-like 435 Pro-rich. nucleotide binding|RNA binding breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1) 20 CCCCCAGGTGGACATCCCAGC 0.612000 21 67 0 0 0.00188189 0 0 MPP7 143098 broad.mit.edu 37 10 28378716 28378716 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr10:28378716G>A ENST00000337532.5 - 13 1283 c.1007C>T c.(1006-1008)tCc>tTc p.S336F MPP7_ENST00000445954.2_Missense_Mutation_p.S211F|MPP7_ENST00000375732.1_Missense_Mutation_p.S336F|MPP7_ENST00000540098.1_Missense_Mutation_p.S336F|MPP7_ENST00000375719.3_Missense_Mutation_p.S336F NM_173496.3 NP_775767.2 Q5T2T1 MPP7_HUMAN membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) 336 establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly MPP7-DLG1-LIN7 complex|tight junction protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1) 22 TTCATACATGGATTTATTTGT 0.323000 17 56 0 0 0.000566183 0 0 PSD3 23362 broad.mit.edu 37 8 18729272 18729272 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr8:18729272G>A ENST00000440756.2 - 3 1204 c.1102C>T c.(1102-1104)Cct>Tct p.P368S PSD3_ENST00000327040.8_Missense_Mutation_p.P368S|PSD3_ENST00000523619.1_Missense_Mutation_p.P303S Q9NYI0 PSD3_HUMAN pleckstrin and Sec7 domain containing 3 368 regulation of ARF protein signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane ARF guanyl-nucleotide exchange factor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183) CTCTCTGAAGGAGCTTTCCAG 0.468000 5 69 0 0 0.000602214 0 0 STAB2 55576 broad.mit.edu 37 12 104069737 104069737 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr12:104069737G>A ENST00000388887.2 + 24 2788 c.2584G>A c.(2584-2586)Gga>Aga p.G862R NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 862 EGF-like 7. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 TGAAGGAGATGGAACTCTGTG 0.502000 5 47 0 0 0.000602214 0 0 TMEM200C 645369 broad.mit.edu 37 18 5891769 5891769 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr18:5891769G>A ENST00000581347.1 - 3 939 c.294C>T c.(292-294)gtC>gtT p.V98V TMEM200C_ENST00000383490.2_Silent_p.V98V|RP11-945C19.4_ENST00000577694.1_RNA A6NKL6 T200C_HUMAN transmembrane protein 200C 98 integral to membrane autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1) 12 CCGTGGTTGGGACCCGGTGGC 0.687000 12 60 0 0 0.00244969 0 0 ATP10D 57205 broad.mit.edu 37 4 47574913 47574913 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr4:47574913G>A ENST00000273859.3 + 18 3534 c.3265G>A c.(3265-3267)Gtt>Att p.V1089I NM_020453.3 NP_065186.3 Q9P241 AT10D_HUMAN ATPase, class V, type 10D 1089 ATP biosynthetic process|cation transport integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1) 66 TGACTTTGCCGTTTCTCAGTT 0.438000 47 242 0 0 0.000781405 0 0 PAPPA2 60676 broad.mit.edu 37 1 176661369 176661369 + Missense_Mutation SNP C C A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:176661369C>A ENST00000367662.3 + 6 3703 c.2539C>A c.(2539-2541)Ccc>Acc p.P847T NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 847 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 CACCCCCATCCCCATTCCACC 0.512000 35 156 1.57019e-19 6.23249e-19 0.00170553 1 0 ZKSCAN2 342357 broad.mit.edu 37 16 25255315 25255315 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr16:25255315G>A ENST00000328086.7 - 6 2575 c.1772C>T c.(1771-1773)tCc>tTc p.S591F NM_001012981.4 NP_001012999.3 Q63HK3 ZKSC2_HUMAN zinc finger with KRAB and SCAN domains 2 591 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1) 36 GBM - Glioblastoma multiforme(48;0.0378) GGTGCTGGGGGAAGGAGCAGA 0.547000 7 65 0 0 0.00198382 0 0 IRGC 56269 broad.mit.edu 37 19 44223413 44223413 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr19:44223413G>A ENST00000244314.5 + 2 902 c.703G>A c.(703-705)Gac>Aac p.D235N NM_019612.3 NP_062558.1 Q6NXR0 IIGP5_HUMAN immunity-related GTPase family, cinema 235 membrane GTP binding|hydrolase activity, acting on acid anhydrides central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2) 25 Prostate(69;0.0435) CTGGGAGCACGACCTGCCCTC 0.667000 6 16 0 0 0.00116845 0 0 ZNF667 63934 broad.mit.edu 37 19 56952796 56952796 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr19:56952796C>T ENST00000504904.3 - 7 2287 c.1568G>A c.(1567-1569)gGa>gAa p.G523E ZNF667_ENST00000292069.6_Missense_Mutation_p.G523E|ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000342634.3_Missense_Mutation_p.G651E Q5HYK9 ZN667_HUMAN zinc finger protein 667 523 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 38 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0615) TGGCTTCTCTCCAGTGTGAAT 0.433000 9 37 0 0 0.000274275 0 0 TMIGD2 126259 broad.mit.edu 37 19 4298302 4298302 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr19:4298302G>A ENST00000301272.2 - 2 132 c.87C>T c.(85-87)ccC>ccT p.P29P TMIGD2_ENST00000595645.1_Silent_p.P29P|TMIGD2_ENST00000600114.1_Intron|TMIGD2_ENST00000600349.1_Intron NM_001169126.1|NM_144615.2 NP_001162597.1|NP_653216.2 Q96BF3 TMIG2_HUMAN transmembrane and immunoglobulin domain containing 2 29 Ig-like. integral to membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2) 19 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18) GCAGCAAGTTGGGCCCCTGCT 0.617000 6 25 0 0 0.00116845 0 0 DRD3 1814 broad.mit.edu 37 3 113890585 113890585 + Missense_Mutation SNP C C G rs76256558 TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr3:113890585C>G ENST00000383673.2 - 2 685 c.255G>C c.(253-255)tgG>tgC p.W85C DRD3_ENST00000467632.1_Missense_Mutation_p.W85C|DRD3_ENST00000295881.7_Missense_Mutation_p.W85C|DRD3_ENST00000460779.1_Missense_Mutation_p.W85C NM_000796.3 NP_000787.2 P35462 DRD3_HUMAN dopamine receptor D3 85 activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning integral to plasma membrane dopamine D3 receptor activity|drug binding central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1) 36 Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246) GGTATACCACCCAGGGCATCA 0.547000 13 96 0 0 0.000308642 0 0 FNDC9 408263 broad.mit.edu 37 5 156770028 156770028 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr5:156770028C>T ENST00000312349.4 - 2 704 c.517G>A c.(517-519)Gaa>Aaa p.E173K CYFIP2_ENST00000377576.3_Intron|CYFIP2_ENST00000541131.1_Intron|CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000347377.6_Intron|CYFIP2_ENST00000435847.2_Intron|CYFIP2_ENST00000442283.2_Intron|CYFIP2_ENST00000318218.6_Intron|CYFIP2_ENST00000521420.1_Intron NM_001001343.3 NP_001001343.2 Q8TBE3 FNDC9_HUMAN fibronectin type III domain containing 9 173 integral to membrane central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1) 9 TGCAGGTCTTCCTCCCTCTGA 0.617000 OREG0016977 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 114 0 0 0.00185496 0 0 ABHD5 51099 broad.mit.edu 37 3 43753262 43753262 + Nonsense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr3:43753262C>T ENST00000458276.2 + 4 691 c.568C>T c.(568-570)Caa>Taa p.Q190* NM_016006.4 NP_057090.2 Q8WTS1 ABHD5_HUMAN abhydrolase domain containing 5 190 cell differentiation|fatty acid metabolic process|negative regulation of sequestering of triglyceride|phosphatidic acid biosynthetic process|positive regulation of triglyceride catabolic process|triglyceride catabolic process cytosol|lipid particle 1-acylglycerol-3-phosphate O-acyltransferase activity|lysophosphatidic acid acyltransferase activity kidney(3)|large_intestine(2)|liver(2)|lung(5)|ovary(1)|skin(1) 14 Renal(3;0.0134) KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0687) CCTTGCTGATCAAGACAGACC 0.458000 17 79 0 0 0.00074312 0 0 ASPHD1 253982 broad.mit.edu 37 16 29912570 29912570 + Nonsense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr16:29912570G>A ENST00000308748.5 + 1 530 c.278G>A c.(277-279)tGg>tAg p.W93* ASPHD1_ENST00000483405.1_Intron NM_181718.3 NP_859069.2 Q5U4P2 ASPH1_HUMAN aspartate beta-hydroxylase domain containing 1 93 peptidyl-amino acid modification integral to endoplasmic reticulum membrane oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity endometrium(4)|large_intestine(2)|lung(1)|prostate(1) 8 CTGTTCCTCTGGTACTGCTAC 0.682000 14 72 0 0 0.00244969 0 0 COL5A1 1289 broad.mit.edu 37 9 137620555 137620555 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr9:137620555G>A ENST00000371817.3 + 6 1240 c.826G>A c.(826-828)Gaa>Aaa p.E276K NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 276 Nonhelical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding p.E276K(1) NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) CTATTACTACGAATACCCCTA 0.607000 25 130 0 0 0.00047179 0 0 CRIM1 51232 broad.mit.edu 37 2 36737131 36737131 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr2:36737131G>A ENST00000280527.2 + 9 1874 c.1507G>A c.(1507-1509)Gaa>Aaa p.E503K NM_016441.2 NP_057525.1 Q9NZV1 CRIM1_HUMAN cysteine rich transmembrane BMP regulator 1 (chordin-like) 503 nervous system development|regulation of cell growth extracellular region|integral to membrane|plasma membrane insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 45 all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154) CACAGCCGAGGAACTATGTTC 0.498000 17 56 0 0 0.000958276 0 0 MAP3K15 389840 broad.mit.edu 37 X 19378894 19378894 + Missense_Mutation SNP C C A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chrX:19378894C>A ENST00000338883.4 - 29 3914 c.3915G>T c.(3913-3915)gaG>gaT p.E1305D MAP3K15_ENST00000518578.1_5'UTR|PDHA1_ENST00000422285.2_3'UTR|PDHA1_ENST00000540249.1_3'UTR|MAP3K15_ENST00000359173.3_Missense_Mutation_p.E740D|PDHA1_ENST00000545074.1_3'UTR|PDHA1_ENST00000379806.5_3'UTR|MAP3K15_ENST00000469203.2_Missense_Mutation_p.E1137D NM_001001671.3 NP_001001671.3 Q6ZN16 M3K15_HUMAN mitogen-activated protein kinase kinase kinase 15 1305 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) TTTCTGAGGCCTCCTGAGCCC 0.507000 6 22 8.12818e-05 0.000316854 0.00198382 1 0 TLN2 83660 broad.mit.edu 37 15 63089460 63089460 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr15:63089460G>A ENST00000561311.1 + 47 6323 c.6093G>A c.(6091-6093)acG>acA p.T2031T TLN2_ENST00000306829.6_Silent_p.T2031T Q9Y4G6 TLN2_HUMAN talin 2 2031 cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5) 99 TAGAAGACACGAAACTACTTG 0.592000 7 78 0 0 0.000157383 0 0 USP1 7398 broad.mit.edu 37 1 62914219 62914219 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:62914219G>A ENST00000339950.4 + 8 2319 c.1504G>A c.(1504-1506)Gat>Aat p.D502N USP1_ENST00000371146.1_Missense_Mutation_p.D502N NM_003368.4 NP_003359.3 O94782 UBP1_HUMAN ubiquitin specific peptidase 1 502 DNA repair|monoubiquitinated protein deubiquitination|regulation of DNA repair|response to UV|ubiquitin-dependent protein catabolic process nucleoplasm cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(2)|stomach(1) 19 all_neural(321;0.0281) BRCA - Breast invasive adenocarcinoma(111;8.01e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00245)|OV - Ovarian serous cystadenocarcinoma(397;0.0535) TGTAGGAGAAGATAAATATTT 0.348000 10 72 0 0 0.000673444 0 0 STAG2 10735 broad.mit.edu 37 X 123190022 123190022 + Missense_Mutation SNP A A T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chrX:123190022A>T ENST00000371160.1 + 14 1531 c.1241A>T c.(1240-1242)tAt>tTt p.Y414F STAG2_ENST00000371157.3_Missense_Mutation_p.Y414F|STAG2_ENST00000218089.9_Missense_Mutation_p.Y414F|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000354548.5_Missense_Mutation_p.Y345F|STAG2_ENST00000371145.3_Missense_Mutation_p.Y414F|STAG2_ENST00000371144.3_Missense_Mutation_p.Y414F Q8N3U4 STAG2_HUMAN stromal antigen 2 414 cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4) 78 GAAAATGTCTATCATCTGGTT 0.363000 19 51 0 0 0.000958276 0 0 ACTL9 284382 broad.mit.edu 37 19 8808355 8808355 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr19:8808355C>T ENST00000324436.3 - 1 817 c.697G>A c.(697-699)Gcg>Acg p.A233T NM_178525.3 NP_848620.2 Q8TC94 ACTL9_HUMAN actin-like 9 233 cytoplasm|cytoskeleton NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 36 AGCATCTCCGCCAGGAAGGCG 0.637000 6 52 0 0 0.00198382 0 0 GIMAP4 55303 broad.mit.edu 37 7 150269672 150269672 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr7:150269672C>T ENST00000255945.2 + 3 689 c.514C>T c.(514-516)Cca>Tca p.P172S GIMAP4_ENST00000494750.1_3'UTR|GIMAP4_ENST00000461940.1_Missense_Mutation_p.P186S NM_018326.2 NP_060796.1 Q9NUV9 GIMA4_HUMAN GTPase, IMAP family member 4 172 GTP binding breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(82;0.0179) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) AAGGGAAGCTCCAGAAGACAT 0.468000 10 79 0 0 0.000442599 0 0 NBPF18P 441908 broad.mit.edu 37 1 151991192 151991192 + RNA SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:151991192G>A ENST00000432386.1 + 0 2256 NR_103561.1 ATGAACACTGGAGAAATCAAC 0.493000 7 71 0 0 0.000274275 0 0 HELZ2 85441 broad.mit.edu 37 20 62194861 62194861 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr20:62194861G>A ENST00000467148.1 - 8 5383 c.5314C>T c.(5314-5316)Ccc>Tcc p.P1772S HELZ2_ENST00000427522.2_Missense_Mutation_p.P1203S NM_001037335.2 NP_001032412.2 helicase with zinc finger 2, transcriptional coactivator GAGCCGTAGGGGACGGGGCAG 0.736000 5 7 0 0 0.000602214 0 0 DNAH17 8632 broad.mit.edu 37 17 76457746 76457746 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr17:76457746G>A ENST00000389840.5 - 58 9301 c.9177C>T c.(9175-9177)ctC>ctT p.L3059L DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Silent_p.L3068L dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) TCTTCTGCTTGAGCTCAGCCT 0.562000 4 27 0 0 0.00116845 0 0 STC1 6781 broad.mit.edu 37 8 23711947 23711947 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr8:23711947C>T ENST00000290271.2 - 1 373 c.90G>A c.(88-90)agG>agA p.R30R NM_003155.2 NP_003146.1 P52823 STC1_HUMAN stanniocalcin 1 30 cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis hormone activity breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 26 Prostate(55;0.055)|Breast(100;0.116) Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632) CTCGGGATTTCCTGGGGCTCA 0.532000 13 75 0 0 0.00136819 0 0 FGF12 2257 broad.mit.edu 37 3 191888273 191888273 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr3:191888273G>A ENST00000454309.2 - 4 1412 c.587C>T c.(586-588)tCa>tTa p.S196L FGF12_ENST00000430714.1_Missense_Mutation_p.S97L|FGF12_ENST00000264730.3_Missense_Mutation_p.S134L|FGF12_ENST00000445105.1_Missense_Mutation_p.S134L|FGF12_ENST00000450716.1_Missense_Mutation_p.S134L NM_021032.4 NP_066360.1 P61328 FGF12_HUMAN fibroblast growth factor 12 196 cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction extracellular space|nucleus growth factor activity|heparin binding endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 30 all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247) Lung NSC(153;0.21) LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06) GBM - Glioblastoma multiforme(46;0.00032) TACAAAATGTGATGAGGGCTT 0.438000 12 107 0 0 0.000978159 0 0 DZIP1 22873 broad.mit.edu 37 13 96237103 96237103 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr13:96237103C>T ENST00000347108.3 - 20 2843 c.2411G>A c.(2410-2412)gGa>gAa p.G804E DZIP1_ENST00000361156.3_Missense_Mutation_p.G785E|DZIP1_ENST00000361396.2_Missense_Mutation_p.G785E|DZIP1_ENST00000376829.2_Missense_Mutation_p.G804E Q86YF9 DZIP1_HUMAN DAZ interacting zinc finger protein 1 804 germ cell development|multicellular organismal development|spermatogenesis cytoplasm|nucleus nucleic acid binding|protein binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1) 38 all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.141) AGATTTTTTTCCCAAAGATAT 0.428000 16 66 0 0 0.000422831 0 0 ATP9B 374868 broad.mit.edu 37 18 77067158 77067158 + Missense_Mutation SNP A A G TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr18:77067158A>G ENST00000426216.2 + 15 1714 c.1697A>G c.(1696-1698)gAg>gGg p.E566G ATP9B_ENST00000307671.7_Missense_Mutation_p.E566G NM_198531.3 NP_940933.3 O43861 ATP9B_HUMAN ATPase, class II, type 9B 566 ATP biosynthetic process integral to membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1) 38 Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171) OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405) GGCGTTACTGAGGAGACTGAG 0.542000 13 88 0 0 0.00244969 0 0 HMP19 51617 broad.mit.edu 37 5 173491276 173491276 + Missense_Mutation SNP G G C TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr5:173491276G>C ENST00000303177.3 + 3 433 c.171G>C c.(169-171)aaG>aaC p.K57N NSG2_ENST00000521585.1_Missense_Mutation_p.K57N|NSG2_ENST00000521959.1_3'UTR NM_015980.4 NP_057064.1 CGGAACAGAAGAACAAAGGGA 0.448000 8 64 0 0 0.000157383 0 0 ZNF536 9745 broad.mit.edu 37 19 30935657 30935657 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr19:30935657C>T ENST00000355537.3 + 2 1335 c.1188C>T c.(1186-1188)ctC>ctT p.L396L NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 396 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) AGGTCCACCTCAACAAGCTGT 0.607000 16 50 0 0 0.000422831 0 0 PURG 29942 broad.mit.edu 37 8 30889612 30889612 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr8:30889612C>T ENST00000475541.1 - 1 1619 c.687G>A c.(685-687)atG>atA p.M229I PURG_ENST00000339382.2_Missense_Mutation_p.M229I NM_013357.2 NP_037489.1 Q9UJV8 PURG_HUMAN purine-rich element binding protein G 229 nucleus DNA binding p.M229I(2) endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1) 12 KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108) GAAACTCAATCATTCCTTGTG 0.488000 13 103 0 0 0.000308642 0 0 MTA2 9219 broad.mit.edu 37 11 62365529 62365529 + Missense_Mutation SNP A A G TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr11:62365529A>G ENST00000278823.2 - 6 846 c.457T>C c.(457-459)Tac>Cac p.Y153H MTA2_ENST00000524902.1_5'UTR|MTA2_ENST00000527204.1_5'UTR NM_004739.3 NP_004730.2 O94776 MTA2_HUMAN metastasis associated 1 family, member 2 153 ELM2. chromatin assembly or disassembly NuRD complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 26 TCAGCTTGGTATTTGCAACCA 0.478000 30 150 0 0 0.00178596 0 0 FGF23 8074 broad.mit.edu 37 12 4479895 4479895 + Missense_Mutation SNP A A G TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr12:4479895A>G ENST00000237837.1 - 3 515 c.370T>C c.(370-372)Tac>Cac p.Y124H NM_020638.2 NP_065689.1 Q9GZV9 FGF23_HUMAN fibroblast growth factor 23 124 cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process extracellular space growth factor activity NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 22 Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206) TAGACGTCGTACCCGTTTTCC 0.597000 11 107 0 0 0.00185496 0 0 PCNXL2 80003 broad.mit.edu 37 1 233313585 233313585 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:233313585G>A ENST00000258229.8 - 17 3470 c.3236C>T c.(3235-3237)gCt>gTt p.A1079V PCNXL2_ENST00000488780.2_Missense_Mutation_p.A212V NM_014801.3 NP_055616.3 A6NKB5 PCX2_HUMAN pecanex-like 2 (Drosophila) 1079 integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) AGGGTCAGCAGCTGACTCTGC 0.433000 11 45 0 0 0.000978159 0 0 SECISBP2 79048 broad.mit.edu 37 9 91954794 91954794 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr9:91954794C>T ENST00000375807.3 + 9 1299 c.1228C>T c.(1228-1230)Ccc>Tcc p.P410S SECISBP2_ENST00000534113.2_Missense_Mutation_p.P342S|SECISBP2_ENST00000339901.4_Missense_Mutation_p.P337S NM_024077.3 NP_076982.3 Q96T21 SEBP2_HUMAN SECIS binding protein 2 410 translation nucleus mRNA 3'-UTR binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2) 32 CGAGGAATTTCCCAACCTGGC 0.393000 10 58 0 0 0.00244969 0 0 CRYGN 155051 broad.mit.edu 37 7 151135252 151135252 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr7:151135252C>T ENST00000337323.2 - 2 226 c.100G>A c.(100-102)Ggc>Agc p.G34S CRYGN_ENST00000476631.1_5'UTR|RP4-555L14.4_ENST00000465549.1_RNA NM_144727.1 NP_653328.1 Q8WXF5 CRGN_HUMAN crystallin, gamma N 34 Beta/gamma crystallin 'Greek key' 1. central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(1)|lung(4) 8 OV - Ovarian serous cystadenocarcinoma(82;0.00358) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TTCATAAAGCCCCGGTCCTGG 0.567000 14 44 0 0 0.00185496 0 0 OR51B4 79339 broad.mit.edu 37 11 5322336 5322336 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr11:5322336G>A ENST00000380224.1 - 1 890 c.841C>T c.(841-843)Cct>Tct p.P281S HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron NM_033179.2 NP_149419.2 Q9Y5P0 O51B4_HUMAN olfactory receptor, family 51, subfamily B, member 4 281 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 20 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ACGAATGGAGGAAAGAGAAAA 0.428000 5 48 0 0 0.00116845 0 0 ZNF423 23090 broad.mit.edu 37 16 49671261 49671261 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr16:49671261G>A ENST00000561648.1 - 4 1855 c.1802C>T c.(1801-1803)gCc>gTc p.A601V ZNF423_ENST00000563137.2_Missense_Mutation_p.A541V|ZNF423_ENST00000567169.1_Missense_Mutation_p.A484V|ZNF423_ENST00000262383.2_Missense_Mutation_p.A601V|ZNF423_ENST00000562520.1_Missense_Mutation_p.A541V|ZNF423_ENST00000535559.1_Missense_Mutation_p.A484V|ZNF423_ENST00000562871.1_Missense_Mutation_p.A541V NM_001271620.1 NP_001258549.1 Q2M1K9 ZN423_HUMAN zinc finger protein 423 601 cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 89 all_cancers(37;0.0155) GCTCTGCTCGGCCTTGGACTT 0.572000 7 57 0 0 0.000157383 0 0 CACNA1E 777 broad.mit.edu 37 1 181754883 181754883 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:181754883C>T ENST00000526775.1 + 42 5822 c.5657C>T c.(5656-5658)tCa>tTa p.S1886L CACNA1E_ENST00000360108.3_Missense_Mutation_p.S1886L|CACNA1E_ENST00000367570.1_Missense_Mutation_p.S1905L|CACNA1E_ENST00000367567.4_Missense_Mutation_p.S1512L|CACNA1E_ENST00000367573.2_Missense_Mutation_p.S1905L|CACNA1E_ENST00000357570.5_Missense_Mutation_p.S1856L|CACNA1E_ENST00000358338.5_Missense_Mutation_p.S1837L NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 1905 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 ATGGAGCCTTCATCTCTGCCT 0.502000 43 207 0 0 0.000781405 0 0 CER1 9350 broad.mit.edu 37 9 14722166 14722166 + Nonsense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr9:14722166G>A ENST00000380911.3 - 1 549 c.505C>T c.(505-507)Cag>Tag p.Q169* NM_005454.2 NP_005445.1 O95813 CER1_HUMAN cerberus 1, DAN family BMP antagonist 169 CTCK. BMP signaling pathway extracellular space cytokine activity endometrium(2)|large_intestine(3)|lung(6) 11 GBM - Glioblastoma multiforme(50;3.16e-06) ACACATACCTGGCTGAAGGGC 0.537000 11 68 0 0 0.00136819 0 0 TENM3 55714 broad.mit.edu 37 4 183600827 183600827 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr4:183600827C>T ENST00000511685.1 + 8 1458 c.1335C>T c.(1333-1335)ttC>ttT p.F445F TENM3_ENST00000406950.2_Silent_p.F445F teneurin transmembrane protein 3 AGTATGACTTCGTGGAGCTCC 0.532000 11 74 0 0 0.000978159 0 0 CYP7B1 9420 broad.mit.edu 37 8 65528319 65528319 + Nonsense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr8:65528319C>T ENST00000310193.3 - 3 952 c.779G>A c.(778-780)tGg>tAg p.W260* CYP7B1_ENST00000523954.1_5'UTR NM_004820.3 NP_004811.1 O75881 CP7B1_HUMAN cytochrome P450, family 7, subfamily B, polypeptide 1 260 bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome 25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215) AACTTCTGACCATCCTTGCAT 0.388000 12 82 0 0 0.00185496 0 0 ANPEP 290 broad.mit.edu 37 15 90344822 90344822 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr15:90344822G>A ENST00000300060.6 - 11 1899 c.1586C>T c.(1585-1587)tCc>tTc p.S529F ANPEP_ENST00000558177.1_5'UTR NM_001150.2 NP_001141.2 P15144 AMPN_HUMAN alanyl (membrane) aminopeptidase 529 Metalloprotease. angiogenesis|cell differentiation|interspecies interaction between organisms cytosol|ER-Golgi intermediate compartment|integral to plasma membrane aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 57 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169) Ezetimibe(DB00973) GAGTTGGATGGACCGGTTGTT 0.637000 6 38 0 0 0.00198382 0 0 TET2 54790 broad.mit.edu 37 4 106156493 106156493 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr4:106156493C>T ENST00000513237.1 + 3 2254 c.1457C>T c.(1456-1458)cCa>cTa p.P486L TET2_ENST00000394764.1_Missense_Mutation_p.P465L|TET2_ENST00000413648.2_Missense_Mutation_p.P465L|TET2_ENST00000380013.4_Missense_Mutation_p.P465L|TET2_ENST00000545826.1_Missense_Mutation_p.P465L|TET2_ENST00000305737.2_Missense_Mutation_p.P465L|TET2_ENST00000540549.1_Missense_Mutation_p.P465L Q6N021 TET2_HUMAN tet methylcytosine dioxygenase 2 465 cell cycle|myeloid cell differentiation metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 1314 Myeloproliferative disorder(5;0.0393) OV - Ovarian serous cystadenocarcinoma(123;7.18e-08) AGTCCTAATCCATCTACACAT 0.453000 """Mis N, F""" MDS 10 53 0 0 0.000673444 0 0 MEP1B 4225 broad.mit.edu 37 18 29795045 29795045 + Splice_Site SNP A A G TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr18:29795045A>G ENST00000269202.6 + 12 1627 c.1579_splice c.e12-1 p.D527_splice MEP1B_ENST00000581447.1_Splice_Site_p.D527_splice NM_005925.2 NP_005916.2 Q16820 MEP1B_HUMAN meprin A, beta 527 MATH. digestion|proteolysis extracellular space|integral to plasma membrane metalloendopeptidase activity|zinc ion binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 GCTTTTTCAGATAATGGAAAC 0.408000 13 110 0 0 0.000308642 0 0 SETD1A 9739 broad.mit.edu 37 16 30976345 30976345 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr16:30976345C>T ENST00000262519.8 + 7 1968 c.1282C>T c.(1282-1284)Cct>Tct p.P428S NM_014712.1 NP_055527.1 O15047 SET1A_HUMAN SET domain containing 1A 428 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nuclear speck|Set1C/COMPASS complex histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 59 CTACCGGCCTCCTGCCTCAGA 0.662000 7 48 0 0 0.000274275 0 0 OR4S2 219431 broad.mit.edu 37 11 55419207 55419207 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr11:55419207C>T ENST00000312422.2 + 1 828 c.828C>T c.(826-828)atC>atT p.I276I NM_001004059.2 NP_001004059.2 Q8NH73 OR4S2_HUMAN olfactory receptor, family 4, subfamily S, member 2 276 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_epithelial(135;0.0748) ACACCATTATCACTCCCATGT 0.408000 7 56 0 0 0.000157383 0 0 CACNG3 10368 broad.mit.edu 37 16 24373082 24373082 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr16:24373082C>T ENST00000005284.3 + 4 2048 c.846C>T c.(844-846)tcC>tcT p.S282S NM_006539.3 NP_006530.1 O60359 CCG3_HUMAN calcium channel, voltage-dependent, gamma subunit 3 282 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex voltage-gated calcium channel activity p.S282S(1) NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2) 40 GBM - Glioblastoma multiforme(48;0.0809) TCCTCAACTCCGACCGGGACC 0.552000 17 83 0 0 0.00152264 0 0 TTN 7273 broad.mit.edu 37 2 179536776 179536776 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr2:179536776C>T ENST00000589042.1 - 155 35373 c.35149G>A c.(35149-35151)Gaa>Aaa p.E11717K TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E10416K|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E11343K|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 11584 Glu-rich.|Pro-rich. 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) TGAACTTTTTCAACTCTGTGT 0.338000 6 63 0 0 0.00198382 0 0 HERC2P3 283755 broad.mit.edu 37 15 20658892 20658892 + RNA SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr15:20658892G>A ENST00000428453.1 - 0 1974 central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 ATTCCCTCAGGAATAAGTCTT 0.363000 17 51 0 0 0.00229938 0 0 CCDC144A 9720 broad.mit.edu 37 17 16612200 16612200 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr17:16612200G>A ENST00000443444.2 + 5 969 c.829G>A c.(829-831)Gaa>Aaa p.E277K CCDC144A_ENST00000456009.1_Intron|CCDC144A_ENST00000340621.5_Missense_Mutation_p.E276K|CCDC144A_ENST00000399273.1_Missense_Mutation_p.E277K|CCDC144A_ENST00000360524.8_Missense_Mutation_p.E277K|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.E277K A2RUR9 C144A_HUMAN coiled-coil domain containing 144A 277 AAAATCTGAGGAAATGTGGAT 0.358000 7 67 0 0 0.00136819 0 0 NACA 4666 broad.mit.edu 37 12 57111344 57111344 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr12:57111344G>A ENST00000454682.1 - 3 4251 c.3970C>T c.(3970-3972)Cca>Tca p.P1324S NACA_ENST00000552540.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 GGGGTACCTGGGCTTCCTTTT 0.622000 T BCL6 NHL 15 61 0 0 0.000566183 0 0 CTSW 1521 broad.mit.edu 37 11 65649961 65649961 + Missense_Mutation SNP A A G TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr11:65649961A>G ENST00000528419.1 + 5 506 c.502A>G c.(502-504)Atc>Gtc p.I168V CTSW_ENST00000307886.3_Missense_Mutation_p.I168V P56202 CATW_HUMAN cathepsin W 168 immune response|proteolysis cysteine-type endopeptidase activity central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5) 9 READ - Rectum adenocarcinoma(159;0.168) CCTGTGGCGCATCAGTTTCTG 0.637000 9 60 0 0 0.000274275 0 0 DVL1 1855 broad.mit.edu 37 1 1275673 1275673 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:1275673G>A ENST00000378888.5 - 7 1007 c.723C>T c.(721-723)acC>acT p.T241T DVL1_ENST00000378891.5_Silent_p.T241T O14640 DVL1_HUMAN dishevelled segment polarity protein 1 241 canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome frizzled binding|identical protein binding|protein kinase binding|signal transducer activity endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 13 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) TGGTGGAGTCGGTTATGCTGC 0.662000 10 61 0 0 0.000673444 0 0 SIRPB1 10326 broad.mit.edu 37 20 1546882 1546882 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr20:1546882G>A ENST00000381605.4 - 5 1180 c.1116C>T c.(1114-1116)ctC>ctT p.L372L SIRPB1_ENST00000381603.3_Silent_p.L155L|SIRPB1_ENST00000262929.5_Silent_p.L154L|RP4-576H24.4_ENST00000564763.1_Intron NM_006065.3 NP_006056.2 O00241 SIRB1_HUMAN signal-regulatory protein beta 1 372 cell junction assembly|cell surface receptor linked signaling pathway integral to plasma membrane protein binding central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 31 GGAGAGCTACGAGGAGTGGAG 0.587000 10 20 0 0 0.000978159 0 0 MSANTD4 84437 broad.mit.edu 37 11 105880737 105880737 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr11:105880737G>A ENST00000301919.4 - 3 1978 c.563C>T c.(562-564)aCc>aTc p.T188I NM_032424.1 NP_115800.1 Q8NCY6 K1826_HUMAN Myb/SANT-like DNA-binding domain containing 4 with coiled-coils 188 nucleus TGAGTTAAGGGTAAAAAACTC 0.398000 14 84 0 0 0.000308642 0 0 DDB1 1642 broad.mit.edu 37 11 61079489 61079489 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr11:61079489G>A ENST00000301764.7 - 17 2534 c.2137C>T c.(2137-2139)Cgc>Tgc p.R713C DDB1_ENST00000450997.2_Intron NM_001923.4 NP_001914.3 Q16531 DDB1_HUMAN damage-specific DNA binding protein 1, 127kDa 713 Interaction with CDT1. cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm damaged DNA binding|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 48 GGAACTGTGCGAATGTGCAGC 0.552000 Nucleotide excision repair (NER) 27 149 0 0 0.000878237 0 0 ABCA12 26154 broad.mit.edu 37 2 215831615 215831615 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr2:215831615G>A ENST00000272895.7 - 39 6060 c.5841C>T c.(5839-5841)ttC>ttT p.F1947F ABCA12_ENST00000389661.4_Silent_p.F1629F NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 1947 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) CTCGCAGAAGGAAATTATTCA 0.383000 5 41 0 0 0.00116845 0 0 CCDC146 57639 broad.mit.edu 37 7 76922443 76922443 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr7:76922443G>A ENST00000285871.4 + 18 2717 c.2590G>A c.(2590-2592)Gaa>Aaa p.E864K CCDC146_ENST00000415740.2_3'UTR|CCDC146_ENST00000431197.1_Missense_Mutation_p.E578K NM_020879.2 NP_065930.2 Q8IYE0 CC146_HUMAN coiled-coil domain containing 146 864 breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2) 34 all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205) ACTCAATAAGGAAATTGAGAA 0.433000 13 98 0 0 0.00136819 0 0 MBTPS1 8720 broad.mit.edu 37 16 84129350 84129350 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr16:84129350G>A ENST00000343411.3 - 4 977 c.482C>T c.(481-483)cCc>cTc p.P161L NM_003791.2 NP_003782.1 Q14703 MBTP1_HUMAN membrane-bound transcription factor peptidase, site 1 161 cholesterol metabolic process|proteolysis endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane serine-type endopeptidase activity NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 TCTTCGCAGGGGACGTGATGA 0.592000 8 110 0 0 0.000673444 0 0 ZNF208 7757 broad.mit.edu 37 19 22155111 22155111 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr19:22155111C>T ENST00000397126.4 - 4 2873 c.2725G>A c.(2725-2727)Gta>Ata p.V909I ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) GTATGAATTACCTCATGTTTA 0.373000 4 14 0 0 0.00116845 0 0 LRP1B 53353 broad.mit.edu 37 2 141533714 141533714 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr2:141533714G>A ENST00000389484.3 - 33 6424 c.5453C>T c.(5452-5454)aCt>aTt p.T1818I NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 1818 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TACCCCAGAAGTCTTATTCCG 0.423000 TSP Lung(27;0.18) 15 61 0 0 0.000422831 0 0 PSG8 440533 broad.mit.edu 37 19 43259363 43259363 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr19:43259363C>T ENST00000404209.4 - 4 861 c.765G>A c.(763-765)aaG>aaA p.K255K PSG8_ENST00000600709.1_Intron|PSG8_ENST00000406636.3_Silent_p.K133K|PSG8_ENST00000401467.2_Silent_p.K162K|PSG8_ENST00000306511.4_Silent_p.K255K NM_001130167.1 NP_001123639.1 Q9UQ74 PSG8_HUMAN pregnancy specific beta-1-glycoprotein 8 255 Ig-like C2-type 2. 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) TTAAGACATCCTTATTCTCCC 0.483000 27 224 0 0 0.00209593 0 0 RXFP1 59350 broad.mit.edu 37 4 159526268 159526268 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr4:159526268G>A ENST00000307765.5 + 5 692 c.441G>A c.(439-441)aaG>aaA p.K147K RXFP1_ENST00000448688.2_Silent_p.K66K|RXFP1_ENST00000470033.1_Silent_p.K114K|RXFP1_ENST00000423548.1_Silent_p.K147K|RXFP1_ENST00000343542.5_Silent_p.K147K|RXFP1_ENST00000460056.2_Silent_p.K66K NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3 NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2 Q9HBX9 RXFP1_HUMAN relaxin/insulin-like family peptide receptor 1 147 integral to membrane|plasma membrane G-protein coupled receptor activity|metal ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10) 49 all_hematologic(180;0.24) Renal(120;0.0854) COAD - Colon adenocarcinoma(41;0.0219) ATTGCTTCAAGAATTATCATG 0.303000 8 31 0 0 0.000274275 0 0 GRAP2 9402 broad.mit.edu 37 22 40356158 40356158 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr22:40356158G>A ENST00000399090.2 + 2 317 c.100G>A c.(100-102)Gga>Aga p.G34R GRAP2_ENST00000344138.4_Silent_p.G90G|GRAP2_ENST00000540310.1_Intron|GRAP2_ENST00000544756.1_Silent_p.G18G|GRAP2_ENST00000407075.3_Silent_p.G90G|GRAP2_ENST00000478445.1_3'UTR|GRAP2_ENST00000543252.1_Intron O75791 GRAP2_HUMAN GRB2-related adaptor protein 2 235 SH3 1. cell-cell signaling|Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway cytosol SH3/SH2 adaptor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 14 GCTCCCCAGGGGACTTCTCCA 0.557000 27 160 0 0 0.00127121 0 0 STIL 6491 broad.mit.edu 37 1 47746080 47746080 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:47746080G>A ENST00000360380.3 - 13 2413 c.2050C>T c.(2050-2052)Cct>Tct p.P684S STIL_ENST00000371877.3_Missense_Mutation_p.P684S|STIL_ENST00000396221.2_Missense_Mutation_p.P684S|STIL_ENST00000337817.5_Missense_Mutation_p.P684S|STIL_ENST00000243182.6_Missense_Mutation_p.P684S Q15468 STIL_HUMAN SCL/TAL1 interrupting locus 684 PIN1-binding (By similarity). cell proliferation|multicellular organismal development centrosome|cytosol central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 36 Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444) CTTGCCACAGGCGATGGTTCA 0.483000 22 125 0 0 0.00278032 0 0 PSG2 5670 broad.mit.edu 37 19 43585170 43585170 + Missense_Mutation SNP C C T rs150218743 TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr19:43585170C>T ENST00000406487.1 - 2 391 c.293G>A c.(292-294)cGa>cAa p.R98Q NM_031246.3 NP_112536.2 P11465 PSG2_HUMAN pregnancy specific beta-1-glycoprotein 2 98 Ig-like V-type. cell migration|female pregnancy extracellular region central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2) 49 Prostate(69;0.00682) TGCTGTTTCTCGTCCACTATA 0.448000 46 275 0 0 0.000781405 0 0 PAGE2B 389860 broad.mit.edu 37 X 55102477 55102477 + Translation_Start_Site SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chrX:55102477G>A ENST00000374971.1 + 2 55 c.3G>A c.(1-3)atG>atA p.M1I PAGE2B_ENST00000374974.3_Start_Codon_SNP_p.M1I NM_001015038.1 NP_001015038.1 Q5JRK9 GGEE3_HUMAN P antigen family, member 2B 1 lung(3) 3 TGGGAAATATGAGTGAGCATG 0.358000 9 17 0 0 0.000442599 0 0 MPP6 51678 broad.mit.edu 37 7 24708173 24708173 + Missense_Mutation SNP C C G TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr7:24708173C>G ENST00000396475.2 + 10 1307 c.1008C>G c.(1006-1008)ttC>ttG p.F336L MPP6_ENST00000409761.1_Missense_Mutation_p.F224L|MPP6_ENST00000222644.4_Missense_Mutation_p.F336L NM_016447.2 NP_057531.2 Q9NZW5 MPP6_HUMAN membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6) 336 protein complex assembly protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2) 20 TGCCTCCCTTCCAGAGAAAAA 0.373000 7 30 0 0 0.000157383 0 0 DCAF4L2 138009 broad.mit.edu 37 8 88885087 88885087 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr8:88885087G>A ENST00000319675.3 - 1 1209 c.1113C>T c.(1111-1113)cgC>cgT p.R371R NM_152418.3 NP_689631.1 Q8NA75 DC4L2_HUMAN DDB1 and CUL4 associated factor 4-like 2 371 breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 83 AGCCCCCGAGGCGAGAAGAGA 0.592000 4 52 0 0 0.000602214 0 0 SPATC1 375686 broad.mit.edu 37 8 145096226 145096226 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr8:145096226G>A ENST00000377470.3 + 4 1502 c.1400G>A c.(1399-1401)cGg>cAg p.R467Q SPATC1_ENST00000447830.2_Intron NM_198572.2 NP_940974.2 Q76KD6 SPERI_HUMAN spermatogenesis and centriole associated 1 467 NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 15 all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GAGCGCGTACGGCTCTACGGC 0.637000 4 42 0 0 0.00024832 0 0 SPTLC3 55304 broad.mit.edu 37 20 13029697 13029697 + Silent SNP C C T rs151327623 TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr20:13029697C>T ENST00000399002.2 + 2 496 c.222C>T c.(220-222)acC>acT p.T74T SPTLC3_ENST00000476791.1_3'UTR|SPTLC3_ENST00000378194.4_Silent_p.T74T NM_018327.2 NP_060797.2 Q9NUV7 SPTC3_HUMAN serine palmitoyltransferase, long chain base subunit 3 74 sphingoid biosynthetic process integral to membrane|serine C-palmitoyltransferase complex pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1) 25 Pyridoxal Phosphate(DB00114) GAATTGGAACCCTGTTTGGCT 0.408000 33 79 0 0 0.0024448 0 0 VPS41 27072 broad.mit.edu 37 7 38783015 38783015 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr7:38783015G>A ENST00000310301.4 - 24 2163 c.2109C>T c.(2107-2109)tcC>tcT p.S703S VPS41_ENST00000395969.2_Silent_p.S678S NM_014396.3 NP_055211.2 P49754 VPS41_HUMAN vacuolar protein sorting 41 homolog (S. cerevisiae) 703 Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 44 GTTTGTCAATGGAATATAAAA 0.338000 6 15 0 0 0.00198382 0 0 MTOR 2475 broad.mit.edu 37 1 11307752 11307752 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:11307752G>A ENST00000361445.4 - 8 1231 c.1155C>T c.(1153-1155)aaC>aaT p.N385N NM_004958.3 NP_004949.1 P42345 MTOR_HUMAN mechanistic target of rapamycin (serine/threonine kinase) 385 cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 149 GGATCAGCGAGTTCTTGCTAT 0.498000 13 69 0 0 0.000308642 0 0 SLC4A4 8671 broad.mit.edu 37 4 72412140 72412140 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr4:72412140C>T ENST00000340595.3 + 16 2580 c.2384C>T c.(2383-2385)cCg>cTg p.P795L SLC4A4_ENST00000264485.5_Missense_Mutation_p.P839L|SLC4A4_ENST00000351898.6_Intron|SLC4A4_ENST00000425175.1_Missense_Mutation_p.P839L NM_003759.3 NP_003750.1 Q9Y6R1 S4A4_HUMAN solute carrier family 4 (sodium bicarbonate cotransporter), member 4 839 basolateral plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225) ATGGCTCTTCCGTGGTATGTA 0.463000 3 9 0 0 0.00024832 0 0 TRBV11-2 28581 broad.mit.edu 37 7 142197966 142197966 + RNA SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr7:142197966C>T ENST00000471935.1 - 0 103 TCACCTGCTCCCAGGAGACAG 0.502000 9 85 0 0 0.000442599 0 0 SLC38A10 124565 broad.mit.edu 37 17 79226002 79226002 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr17:79226002G>A ENST00000374759.3 - 13 2321 c.1938C>T c.(1936-1938)agC>agT p.S646S SLC38A10_ENST00000288439.5_Silent_p.S646S NM_001037984.1 NP_001033073.1 Q9HBR0 S38AA_HUMAN solute carrier family 38, member 10 646 amino acid transport|sodium ion transport integral to membrane NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117) CACCGTGGTCGCTGTCCTCTG 0.697000 28 109 0 0 0.00106085 0 0 PIM1 5292 broad.mit.edu 37 6 37140845 37140845 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr6:37140845C>T ENST00000373509.5 + 5 1054 c.681C>T c.(679-681)tcC>tcT p.S227S PIM1_ENST00000468243.1_3'UTR NM_001243186.1|NM_002648.3 NP_001230115.1|NP_002639.1 P11309 PIM1_HUMAN pim-1 oncogene 318 Protein kinase. cell cycle|cell proliferation|multicellular organismal development|negative regulation of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|protein autophosphorylation cytoplasm|nucleus|plasma membrane ATP binding|manganese ion binding|protein binding|protein serine/threonine kinase activity|transcription factor binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2) 30 OV - Ovarian serous cystadenocarcinoma(102;0.241) Adenosine monophosphate(DB00131) CAGTCTGGTCCCTGGGGATCC 0.542000 T BCL6 NHL 19 55 0 0 0.00121646 0 0 ALDH4A1 8659 broad.mit.edu 37 1 19216516 19216516 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:19216516G>A ENST00000375341.3 - 2 403 c.146C>T c.(145-147)gCc>gTc p.A49V RP13-279N23.2_ENST00000494072.3_3'UTR|ALDH4A1_ENST00000538309.1_5'UTR|ALDH4A1_ENST00000538839.1_Missense_Mutation_p.A49V|ALDH4A1_ENST00000290597.5_Missense_Mutation_p.A49V NM_003748.3 NP_003739.2 P30038 AL4A1_HUMAN aldehyde dehydrogenase 4 family, member A1 49 proline biosynthetic process|proline catabolic process mitochondrial matrix 1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1) 15 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) NADH(DB00157) CTTTTGCAGGGCATCTCGCTC 0.652000 4 18 0 0 0.000602214 0 0 CRB1 23418 broad.mit.edu 37 1 197396679 197396679 + Missense_Mutation SNP T T C TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:197396679T>C ENST00000367397.1 + 3 1225 c.367T>C c.(367-369)Ttt>Ctt p.F123L CRB1_ENST00000367400.3_Missense_Mutation_p.F742L|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000543483.1_3'UTR|CRB1_ENST00000544212.1_Missense_Mutation_p.F223L|CRB1_ENST00000535699.1_Missense_Mutation_p.F673L|CRB1_ENST00000367399.2_Missense_Mutation_p.F630L P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 742 EGF-like 3. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 CCTCTCCATGTTTGTCCGAAC 0.473000 4 32 0 0 0.00024832 0 0 FCRLA 84824 broad.mit.edu 37 1 161681929 161681929 + Silent SNP C C T rs147507735 TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:161681929C>T ENST00000540926.1 + 5 1016 c.723C>T c.(721-723)tcC>tcT p.S241S FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000350710.3_Intron|FCRLA_ENST00000309691.6_Silent_p.S146S|FCRLA_ENST00000294796.4_Silent_p.S101S|FCRLA_ENST00000236938.6_Silent_p.S252S|FCRLA_ENST00000546024.1_Silent_p.S163S|FCRLA_ENST00000540521.1_Silent_p.S118S|FCRLA_ENST00000367949.2_Intron|FCRLA_ENST00000367950.1_Intron|FCRLA_ENST00000367953.3_Silent_p.S241S|FCRLA_ENST00000367957.2_Silent_p.S112S|FCRLA_ENST00000367959.2_Silent_p.S258S|FCRLA_ENST00000349527.4_Intron Q7L513 FCRLA_HUMAN Fc receptor-like A 235 Ig-like C2-type 2. cell differentiation cytoplasm|extracellular region p.S235S(1) breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1) 34 all_cancers(52;2.55e-15)|all_hematologic(112;0.0359) BRCA - Breast invasive adenocarcinoma(70;0.00301) AAGATCACTCCGGGTCATACT 0.547000 12 67 0 0 0.00185496 0 0 LRRC16B 90668 broad.mit.edu 37 14 24529203 24529203 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr14:24529203C>T ENST00000342740.5 + 23 2047 c.1893C>T c.(1891-1893)tcC>tcT p.S631S LRRC16B_ENST00000334420.7_5'UTR NM_138360.3 NP_612369.3 Q8ND23 LR16B_HUMAN leucine rich repeat containing 16B 631 breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 52 GBM - Glioblastoma multiforme(265;0.019) GCTTCATGTCCTTCCCCGTGA 0.647000 14 96 0 0 0.000308642 0 0 PTGER3 5733 broad.mit.edu 37 1 71418638 71418638 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:71418638C>T ENST00000356595.4 - 4 1419 c.1209G>A c.(1207-1209)gtG>gtA p.V403V PTGER3_ENST00000354608.5_Intron|PTGER3_ENST00000460330.1_Intron|PTGER3_ENST00000351052.5_Intron|PTGER3_ENST00000414819.1_3'UTR|PTGER3_ENST00000370931.3_Intron|PTGER3_ENST00000370932.2_Intron NM_198718.1 NP_942011.1 P43115 PE2R3_HUMAN prostaglandin E receptor 3 (subtype EP3) 0 cell death|positive regulation of fever generation|transcription, DNA-dependent integral to plasma membrane|nuclear envelope ligand-dependent nuclear receptor activity|prostaglandin E receptor activity endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 25 Bimatoprost(DB00905) TAATGCTGCTCACGAGTACCT 0.423000 7 68 0 0 0.000157383 0 0 ALMS1 7840 broad.mit.edu 37 2 73717795 73717795 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr2:73717795C>T ENST00000264448.6 + 10 8817 c.8706C>T c.(8704-8706)caC>caT p.H2902H ALMS1_ENST00000409009.1_Silent_p.H2860H NM_015120.4 NP_055935.4 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 2902 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 147 TGAGGAAACACCATTCTCCCT 0.433000 30 105 0 0 0.00178596 0 0 GEMIN4 50628 broad.mit.edu 37 17 648241 648241 + Silent SNP A A G TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr17:648241A>G ENST00000576778.1 - 1 4350 c.3009T>C c.(3007-3009)acT>acC p.T1003T GEMIN4_ENST00000319004.5_Silent_p.T1014T P57678 GEMI4_HUMAN gem (nuclear organelle) associated protein 4 1014 rRNA processing|spliceosomal snRNP assembly Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex protein binding breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 22 Myeloproliferative disorder(207;0.204) UCEC - Uterine corpus endometrioid carcinoma (25;0.022) TCTTGCTCAAAGTCTCATAGC 0.557000 3 38 0 0 6.4e-05 0 0 KLF6 1316 broad.mit.edu 37 10 3821774 3821774 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr10:3821774G>A ENST00000497571.1 - 4 1069 c.809C>T c.(808-810)tCc>tTc p.S270F KLF6_ENST00000173785.4_5'UTR|KLF6_ENST00000542957.1_Missense_Mutation_p.P229S NM_001160124.1|NM_001300.5 NP_001153596.1|NP_001291.3 Q99612 KLF6_HUMAN Kruppel-like factor 6 270 B cell differentiation nucleus zinc ion binding breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 Colorectal(1;0.238) GTCAGACCTGGAAAAACACCT 0.587000 6 35 0 0 0.000157383 0 0 RRNAD1 51093 broad.mit.edu 37 1 156703213 156703213 + Silent SNP G G T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:156703213G>T ENST00000368216.4 + 5 1167 c.537G>T c.(535-537)gtG>gtT p.V179V RRNAD1_ENST00000476229.1_Silent_p.V56V|RRNAD1_ENST00000368218.4_Silent_p.V179V NM_015997.3 NP_057081.3 Q96FB5 RRNAD_HUMAN ribosomal RNA adenine dimethylase domain containing 1 179 integral to membrane rRNA (adenine-N6,N6-)-dimethyltransferase activity NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3) 9 GGTTGATGGTGAAGAGCATCG 0.592000 20 128 1.10513e-12 4.36665e-12 0.00229938 1 0 ZNF318 24149 broad.mit.edu 37 6 43323410 43323410 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr6:43323410G>A ENST00000361428.2 - 4 1739 c.1662C>T c.(1660-1662)ccC>ccT p.P554P ZNF318_ENST00000318149.3_Silent_p.P554P NM_014345.2 NP_055160.2 Q5VUA4 ZN318_HUMAN zinc finger protein 318 554 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 61 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) AGCTCCCAAGGGGCTTTGGTA 0.478000 33 179 0 0 0.0024448 0 0 NPAP1 23742 broad.mit.edu 37 15 24922217 24922217 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr15:24922217C>T ENST00000329468.2 + 1 1677 c.1203C>T c.(1201-1203)ttC>ttT p.F401F NM_018958.2 NP_061831.2 nuclear pore associated protein 1 CCCCTTCTTTCTCCCAACCTG 0.532000 14 38 0 0 0.000308642 0 0 SIPA1L2 57568 broad.mit.edu 37 1 232629380 232629380 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:232629380C>T ENST00000366630.1 - 3 1868 c.1510G>A c.(1510-1512)Gaa>Aaa p.E504K SIPA1L2_ENST00000486472.1_5'UTR|SIPA1L2_ENST00000262861.4_Missense_Mutation_p.E504K Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 2 504 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 103 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) CCAAGGTTTTCATCTATTCCA 0.448000 52 228 0 0 0.000781405 0 0 GJD2 57369 broad.mit.edu 37 15 35045113 35045113 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr15:35045113G>A ENST00000290374.4 - 2 1008 c.532C>T c.(532-534)Cca>Tca p.P178S NM_020660.2 NP_065711.1 Q9UKL4 CXD2_HUMAN gap junction protein, delta 2, 36kDa 178 synaptic transmission connexon complex|integral to membrane gap junction channel activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1) 19 all_lung(180;9.67e-07) all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156) AGACCTGATGGGTGTGGAGTC 0.483000 27 130 0 0 0.000878237 0 0 BTN2A3P 54718 broad.mit.edu 37 6 26431762 26431762 + RNA SNP T T C TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr6:26431762T>C ENST00000466808.2 + 0 1710 GCTTTAGTAGTTCCTTTGGTT 0.502000 16 133 0 0 0.00074312 0 0 FUT11 170384 broad.mit.edu 37 10 75535399 75535399 + Missense_Mutation SNP T T C TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr10:75535399T>C ENST00000372841.3 + 3 1478 c.1435T>C c.(1435-1437)Tgg>Cgg p.W479R NM_173540.2 NP_775811.2 Q495W5 FUT11_HUMAN fucosyltransferase 11 (alpha (1,3) fucosyltransferase) 479 protein glycosylation Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3) 7 Prostate(51;0.0112) GACGAAATTTTGGGATTACCT 0.453000 9 71 0 0 0.000673444 0 0 CROCC 9696 broad.mit.edu 37 1 17263330 17263330 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:17263330G>A ENST00000375541.5 + 9 1224 c.1155G>A c.(1153-1155)caG>caA p.Q385Q CROCC_ENST00000467938.1_3'UTR NM_014675.3 NP_055490.3 Q5TZA2 CROCC_HUMAN ciliary rootlet coiled-coil, rootletin 385 cell cycle|cell projection organization|centrosome organization|protein localization actin cytoskeleton|centriole|ciliary rootlet|plasma membrane kinesin binding|structural molecule activity breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1) 62 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) CGCAGCAGCAGATGCAAAGCG 0.647000 6 68 0 0 0.00198382 0 0 DPP6 1804 broad.mit.edu 37 7 154379743 154379743 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr7:154379743G>A ENST00000406326.1 + 6 1414 c.1011G>A c.(1009-1011)ggG>ggA p.G337G DPP6_ENST00000427557.1_Intron|DPP6_ENST00000404039.1_Intron|DPP6_ENST00000377770.3_Intron|DPP6_ENST00000332007.3_Intron P42658 DPP6_HUMAN dipeptidyl-peptidase 6 0 cell death|proteolysis integral to membrane dipeptidyl-peptidase activity|serine-type peptidase activity NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 71 all_neural(206;0.181) all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204) OV - Ovarian serous cystadenocarcinoma(82;0.0562) TCACCCCGGGGATAATGCACA 0.597000 14 105 0 0 0.00244969 0 0 TC2N 123036 broad.mit.edu 37 14 92249508 92249508 + Nonsense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr14:92249508C>T ENST00000435962.2 - 12 1732 c.1409G>A c.(1408-1410)tGg>tAg p.W470* TC2N_ENST00000556018.1_Nonsense_Mutation_p.W406*|TC2N_ENST00000360594.5_Nonsense_Mutation_p.W470*|TC2N_ENST00000340892.5_Nonsense_Mutation_p.W470* NM_001128596.1 NP_001122068.1 Q8N9U0 TAC2N_HUMAN tandem C2 domains, nuclear 470 nucleus breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2) 18 COAD - Colon adenocarcinoma(157;0.218) TGTCTCTTTCCACTGGTTCAC 0.323000 7 78 0 0 0.000274275 0 0 COL14A1 7373 broad.mit.edu 37 8 121238994 121238994 + Missense_Mutation SNP A A G TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr8:121238994A>G ENST00000297848.3 + 16 2263 c.1993A>G c.(1993-1995)Aag>Gag p.K665E COL14A1_ENST00000309791.4_Missense_Mutation_p.K665E|COL14A1_ENST00000537875.1_3'UTR|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Missense_Mutation_p.K570E NM_021110.1 NP_066933.1 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 665 Fibronectin type-III 5. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) CTATGGGGGGAAGACTGAGGA 0.433000 5 46 0 0 0.00116845 0 0 MRPL14 64928 broad.mit.edu 37 6 44081941 44081941 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr6:44081941G>A ENST00000372014.3 - 3 208 c.77C>T c.(76-78)aCt>aTt p.T26I NM_032111.2 NP_115487.2 Q6P1L8 RM14_HUMAN mitochondrial ribosomal protein L14 26 translation mitochondrion|ribosome structural constituent of ribosome breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1) 12 all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0181) CAGACTCCCAGTGGTGCTGGT 0.542000 15 161 0 0 0.000422831 0 0 NRXN3 9369 broad.mit.edu 37 14 79175877 79175877 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr14:79175877C>T ENST00000554719.1 + 4 911 c.420C>T c.(418-420)ctC>ctT p.L140L RP11-232C2.2_ENST00000555680.1_RNA|NRXN3_ENST00000335750.5_Silent_p.L140L NM_004796.4 NP_004787.2 Q9HDB5 NRX3B_HUMAN neurexin 3 144 Laminin G-like. angiogenesis|cell adhesion integral to membrane NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1) 104 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) TGGAACTCCTCGATGGCAACC 0.502000 12 91 0 0 0.00136819 0 0 SEC31B 25956 broad.mit.edu 37 10 102249894 102249894 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr10:102249894C>T ENST00000370345.3 - 21 2933 c.2836G>A c.(2836-2838)Ggt>Agt p.G946S NM_015490.3 NP_056305.1 Q9NQW1 SC31B_HUMAN SEC31 homolog B (S. cerevisiae) 946 Pro-rich. protein transport|vesicle-mediated transport endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1) 36 Colorectal(252;0.117) Epithelial(162;2.36e-10)|all cancers(201;2.09e-08) CGGCCGGGACCTAGTGGTCTC 0.627000 18 62 0 0 0.00229938 0 0 TNKS1BP1 85456 broad.mit.edu 37 11 57077190 57077190 + Nonsense_Mutation SNP C C A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr11:57077190C>A ENST00000532437.1 - 5 3306 c.2995G>T c.(2995-2997)Gag>Tag p.E999* TNKS1BP1_ENST00000358252.3_Nonsense_Mutation_p.E999* Q9C0C2 TB182_HUMAN tankyrase 1 binding protein 1, 182kDa 999 Acidic. nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase cytoskeleton|cytosol|nuclear telomeric heterochromatin ankyrin binding|enzyme binding breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_epithelial(135;0.21) ATCTTCTTCTCAAATTCCTCA 0.592000 10 44 7.48243e-07 2.94314e-06 0.000442599 1 0 ZC3H13 23091 broad.mit.edu 37 13 46559573 46559573 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr13:46559573G>A ENST00000242848.4 - 10 1927 c.1579C>T c.(1579-1581)Cgg>Tgg p.R527W ZC3H13_ENST00000282007.3_Missense_Mutation_p.R527W Q5T200 ZC3HD_HUMAN zinc finger CCCH-type containing 13 527 Arg/Ser-rich. nucleic acid binding|zinc ion binding cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 79 Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;4.18e-05) CCATAACTCCGGGATTCTTCT 0.453000 10 66 0 0 0.000673444 0 0 TLL1 7092 broad.mit.edu 37 4 166929121 166929121 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr4:166929121G>A ENST00000061240.2 + 7 1485 c.838G>A c.(838-840)Gag>Aag p.E280K TLL1_ENST00000507499.1_Missense_Mutation_p.E280K|TLL1_ENST00000513213.1_Missense_Mutation_p.E280K NM_012464.4 NP_036596.3 O43897 TLL1_HUMAN tolloid-like 1 280 Metalloprotease (By similarity). cell differentiation|proteolysis|skeletal system development extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 all_hematologic(180;0.221) Melanoma(52;0.0315)|Prostate(90;0.0405) GBM - Glioblastoma multiforme(119;0.103) TCTGAAGATGGAGCCTGGAGA 0.413000 3 13 0 0 6.4e-05 0 0 KMO 8564 broad.mit.edu 37 1 241753362 241753362 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:241753362G>A ENST00000366559.4 + 13 1458 c.1147G>A c.(1147-1149)Gag>Aag p.E383K KMO_ENST00000366557.4_Intron|KMO_ENST00000366558.3_Missense_Mutation_p.E370K NM_003679.4 NP_003670.2 O15229 KMO_HUMAN kynurenine 3-monooxygenase (kynurenine 3-hydroxylase) 383 pyridine nucleotide biosynthetic process|response to salt stress cytosol|integral to membrane|mitochondrial outer membrane electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2) 33 Ovarian(103;0.103)|all_lung(81;0.23) OV - Ovarian serous cystadenocarcinoma(106;0.0176) GAAGAACATGGAGAGATTTCT 0.378000 8 76 0 0 0.000442599 0 0 ROR2 4920 broad.mit.edu 37 9 94486934 94486934 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr9:94486934C>T ENST00000375708.3 - 9 2040 c.1842G>A c.(1840-1842)aaG>aaA p.K614K ROR2_ENST00000375715.1_Silent_p.K474K|ROR2_ENST00000550066.1_5'UTR NM_004560.3 NP_004551.2 Q01974 ROR2_HUMAN receptor tyrosine kinase-like orphan receptor 2 614 Protein kinase. negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 71 TGGCCAGGTCCTTGTGAACCA 0.597000 21 88 0 0 0.00229938 0 0 GAREM 64762 broad.mit.edu 37 18 29867077 29867077 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr18:29867077G>A ENST00000399218.4 - 4 1538 c.1483C>T c.(1483-1485)Ccc>Tcc p.P495S GAREM_ENST00000269209.6_Missense_Mutation_p.P495S NM_001242409.1|NM_022751.2 NP_001229338.1|NP_073588.1 GRB2 associated, regulator of MAPK1 CCAGGGATGGGAAGAGGAGAA 0.522000 23 109 0 0 0.00229938 0 0 OR13D1 286365 broad.mit.edu 37 9 107457503 107457503 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr9:107457503G>A ENST00000318763.5 + 1 844 c.801G>A c.(799-801)aaG>aaA p.K267K NM_001004484.1 NP_001004484.1 Q8NGV5 O13D1_HUMAN olfactory receptor, family 13, subfamily D, member 1 267 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2) 19 AGGGAAGAAAGAAAGCCTTCT 0.378000 15 81 0 0 0.00244969 0 0 SORL1 6653 broad.mit.edu 37 11 121491883 121491883 + Silent SNP G G A rs3134566 TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr11:121491883G>A ENST00000260197.7 + 44 6129 c.6000G>A c.(5998-6000)ggG>ggA p.G2000G SORL1_ENST00000532694.1_Silent_p.G846G|SORL1_ENST00000534286.1_Silent_p.G910G|SORL1_ENST00000525532.1_Silent_p.G944G|SORL1_ENST00000527934.1_Silent_p.G615G NM_003105.5 NP_003096.1 Q92673 SORL_HUMAN sortilin-related receptor, L(DLR class) A repeats containing 2000 Fibronectin type-III 5. cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2) 91 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) AGCCTGGCGGGAAATACCACA 0.443000 11 75 0 0 0.000673444 0 0 DCAF12L2 340578 broad.mit.edu 37 X 125299167 125299167 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chrX:125299167C>T ENST00000538699.1 - 2 821 c.741G>A c.(739-741)ccG>ccA p.P247P DCAF12L2_ENST00000360028.2_Silent_p.P247P NM_001013628.2 NP_001013650.1 Q5VW00 DC122_HUMAN DDB1 and CUL4 associated factor 12-like 2 247 NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3) 64 CCACATCCCTCGGACGGATGT 0.637000 11 20 0 0 0.000673444 0 0 ZNF804A 91752 broad.mit.edu 37 2 185800850 185800850 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr2:185800850G>A ENST00000302277.6 + 4 1321 c.727G>A c.(727-729)Gga>Aga p.G243R NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 243 intracellular zinc ion binding NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 TGCCTCAGTGGGAAAAGGATT 0.423000 10 52 0 0 0.000673444 0 0 STPG2 285555 broad.mit.edu 37 4 98633937 98633937 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr4:98633937C>T ENST00000295268.3 - 10 1322 c.1233G>A c.(1231-1233)agG>agA p.R411R STPG2_ENST00000506482.1_5'UTR NM_174952.2 NP_777612.1 sperm-tail PG-rich repeat containing 2 GGCAAGATTTCCTTAAAACAG 0.338000 6 41 0 0 0.00198382 0 0 SNAPC5 10302 broad.mit.edu 37 15 66786865 66786865 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr15:66786865G>A ENST00000316634.5 - 3 287 c.206C>T c.(205-207)gCa>gTa p.A69V SNAPC5_ENST00000395589.2_Missense_Mutation_p.A69V|SNAPC5_ENST00000563480.2_Missense_Mutation_p.A69V|SNAPC5_ENST00000307979.7_Missense_Mutation_p.A39V|SNAPC5_ENST00000566658.1_3'UTR O75971 SNPC5_HUMAN small nuclear RNA activating complex, polypeptide 5, 19kDa 69 transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase III promoter nucleoplasm sequence-specific DNA binding transcription factor activity breast(1)|large_intestine(1) 2 GTTGATTGATGCTTCATTGTC 0.453000 17 111 0 0 0.00152264 0 0 ZSCAN31 64288 broad.mit.edu 37 6 28297436 28297436 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr6:28297436C>T ENST00000414429.1 - 6 928 c.25G>A c.(25-27)Gat>Aat p.D9N ZSCAN31_ENST00000439158.1_Missense_Mutation_p.D9N|ZSCAN31_ENST00000446474.1_Intron|ZSCAN31_ENST00000344279.6_Missense_Mutation_p.D9N|ZSCAN31_ENST00000396838.2_Missense_Mutation_p.D9N zinc finger and SCAN domain containing 31 p.D9N(1) ATCTTAAGATCGTACTGTTCC 0.418000 12 83 0 0 0.000978159 0 0 C2orf71 388939 broad.mit.edu 37 2 29296579 29296579 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr2:29296579G>A ENST00000331664.5 - 1 548 c.549C>T c.(547-549)gcC>gcT p.A183A NM_001029883.2 NP_001025054.1 A6NGG8 CB071_HUMAN chromosome 2 open reading frame 71 183 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 CCTGCTGGTGGGCCTTTACCA 0.552000 16 82 0 0 0.000308642 0 0 OR6V1 346517 broad.mit.edu 37 7 142749462 142749462 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr7:142749462G>A ENST00000418316.1 + 1 46 c.25G>A c.(25-27)Gaa>Aaa p.E9K NM_001001667.1 NP_001001667.1 Q8N148 OR6V1_HUMAN olfactory receptor, family 6, subfamily V, member 1 9 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1) 20 Melanoma(164;0.059) CCAGCCCTCCGAATTTGTCCT 0.517000 57 140 0 0 0.000781405 0 0 PSG9 5678 broad.mit.edu 37 19 43762547 43762547 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr19:43762547G>A ENST00000244293.7 - 4 837 c.771C>T c.(769-771)ctC>ctT p.L257L PSG9_ENST00000270077.3_Silent_p.L350L|PSG9_ENST00000291752.5_Silent_p.L164L|PSG9_ENST00000418820.2_Silent_p.L257L|PSG9_ENST00000443718.3_Silent_p.L257L|PSG9_ENST00000596730.1_Silent_p.L164L|PSG9_ENST00000593948.1_Silent_p.L257L Q00887 PSG9_HUMAN pregnancy specific beta-1-glycoprotein 9 255 Ig-like C2-type 2. female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Prostate(69;0.00682) AGGACAAGTCGAGGTTTTCTC 0.453000 31 216 0 0 0.00178596 0 0 OR6K2 81448 broad.mit.edu 37 1 158670427 158670427 + Nonsense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:158670427G>A ENST00000359610.2 - 1 59 c.16C>T c.(16-18)Cga>Tga p.R6* NM_001005279.1 NP_001005279.1 Q8NGY2 OR6K2_HUMAN olfactory receptor, family 6, subfamily K, member 2 6 R -> Q (in dbSNP:rs413029). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 46 all_hematologic(112;0.0378) ATGGTGGTTCGATTGGGGCTC 0.428000 6 63 0 0 0.00198382 0 0 DENND5A 23258 broad.mit.edu 37 11 9225822 9225822 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr11:9225822G>A ENST00000328194.3 - 4 654 c.334C>T c.(334-336)Ccc>Tcc p.P112S DENND5A_ENST00000530044.1_Missense_Mutation_p.P112S NM_001243254.1|NM_015213.3 NP_001230183.1|NP_056028.2 Q6IQ26 DEN5A_HUMAN DENN/MADD domain containing 5A 112 UDENN. breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 GGCTCCCTGGGATCAGCCTGG 0.498000 10 61 0 0 0.000673444 0 0 SUPT16H 11198 broad.mit.edu 37 14 21836516 21836516 + Silent SNP A A T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr14:21836516A>T ENST00000216297.2 - 7 1205 c.867T>A c.(865-867)acT>acA p.T289T NM_007192.3 NP_009123.1 Q9Y5B9 SP16H_HUMAN suppressor of Ty 16 homolog (S. cerevisiae) 289 DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction chromosome|nucleoplasm GTP binding breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 all_cancers(95;0.00115) Epithelial(56;1.62e-06)|all cancers(55;1.49e-05) GBM - Glioblastoma multiforme(265;0.0159) CAACCATCAAAGTGCGAACAA 0.428000 7 51 0 0 0.00198382 0 0 SH3RF2 153769 broad.mit.edu 37 5 145393608 145393608 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr5:145393608C>T ENST00000511217.1 + 4 1095 c.1043C>T c.(1042-1044)tCc>tTc p.S348F SH3RF2_ENST00000359120.4_Missense_Mutation_p.S348F Q8TEC5 SH3R2_HUMAN SH3 domain containing ring finger 2 348 ligase activity|protein phosphatase 1 binding|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1) 22 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GACGTTCCTTCCAGCTGTGTG 0.527000 7 61 0 0 0.000157383 0 0 ASPRV1 151516 broad.mit.edu 37 2 70188403 70188403 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr2:70188403C>T ENST00000320256.4 - 1 994 c.418G>A c.(418-420)Gag>Aag p.E140K NM_152792.2 NP_690005.2 Q53RT3 APRV1_HUMAN aspartic peptidase, retroviral-like 1 140 protein maturation by peptide bond cleavage|skin development aspartic-type endopeptidase activity endometrium(3)|large_intestine(4)|lung(6)|ovary(1) 14 CTGAGGGACTCTTTCAGGAAC 0.542000 8 33 0 0 0.000274275 0 0 NLRC4 58484 broad.mit.edu 37 2 32476427 32476427 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr2:32476427C>T ENST00000404025.2 - 5 994 c.506G>A c.(505-507)gGg>gAg p.G169E NLRC4_ENST00000402280.1_Missense_Mutation_p.G169E|NLRC4_ENST00000360906.5_Missense_Mutation_p.G169E|NLRC4_ENST00000342905.6_Intron Q9NPP4 NLRC4_HUMAN NLR family, CARD domain containing 4 169 NACHT. activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis cytoplasm ATP binding|magnesium ion binding|protein homodimerization activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2) 16 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) GCCAGATTCCCCTTCAATGAT 0.562000 6 60 0 0 0.00116845 0 0 TRAV27 28655 broad.mit.edu 37 14 22616402 22616402 + RNA SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr14:22616402C>T ENST00000390457.2 + 0 240 AGTGTTTTTTCCAGCTTACAA 0.507000 12 15 0 0 0.00185496 0 0 ST18 9705 broad.mit.edu 37 8 53049985 53049985 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr8:53049985G>A ENST00000276480.7 - 18 2910 c.2227C>T c.(2227-2229)Cgc>Tgc p.R743C NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) 743 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) GGGTACCTGCGATGAGATGCA 0.413000 6 34 0 0 0.00116845 0 0 PCDHA7 56141 broad.mit.edu 37 5 140214953 140214953 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr5:140214953C>T ENST00000525929.1 + 1 985 c.985C>T c.(985-987)Ccc>Tcc p.P329S PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.P329S NM_018910.2 NP_061733.1 NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGGCTTCCCACCCCTGGCTGG 0.483000 11 90 0 0 0.00136819 0 0 OVCH1 341350 broad.mit.edu 37 12 29630484 29630484 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr12:29630484C>T ENST00000318184.5 - 10 1096 c.1097G>A c.(1096-1098)gGa>gAa p.G366E OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron NM_183378.2 NP_899234.2 Q7RTY7 OVCH1_HUMAN ovochymase 1 366 CUB 1. proteolysis extracellular region metal ion binding|serine-type endopeptidase activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3) 92 Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155) GTTTTGTTTTCCATCGTCTTC 0.358000 4 28 0 0 0.00024832 0 0 ESPNL 339768 broad.mit.edu 37 2 239009110 239009110 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr2:239009110C>T ENST00000343063.3 + 1 313 c.50C>T c.(49-51)aCg>aTg p.T17M ESPNL_ENST00000409169.1_Missense_Mutation_p.T17M NM_194312.2 NP_919288.2 Q6ZVH7 ESPNL_HUMAN espin-like 17 endometrium(1)|lung(8)|pancreas(2)|skin(2) 13 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253) GATGTGGCGACGTTGGAGCGG 0.711000 6 22 0 0 0.00198382 0 0 DCLK1 9201 broad.mit.edu 37 13 36401880 36401880 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr13:36401880G>A ENST00000255448.4 - 10 1510 c.1299C>T c.(1297-1299)atC>atT p.I433I DCLK1_ENST00000360631.3_Silent_p.I433I|DCLK1_ENST00000379893.1_Silent_p.I126I NM_004734.4 NP_004725.1 O15075 DCLK1_HUMAN doublecortin-like kinase 1 433 Protein kinase. cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus integral to plasma membrane ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1) 64 Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638) CTTCATTCTGGATCATGTGCT 0.393000 12 65 0 0 0.000422831 0 0 RGPD3 653489 broad.mit.edu 37 2 107040937 107040937 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr2:107040937C>T ENST00000409886.3 - 20 3573 c.3486G>A c.(3484-3486)caG>caA p.Q1162Q RGPD3_ENST00000304514.7_Silent_p.Q1162Q NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 1162 RanBD1 1. intracellular transport binding breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 CCTCAAATTTCTGCTTGAATT 0.448000 18 94 0 0 0.00074312 0 0 GPR98 84059 broad.mit.edu 37 5 89925145 89925145 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr5:89925145G>A ENST00000405460.2 + 9 1724 c.1628G>A c.(1627-1629)aGa>aAa p.R543K NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 543 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) AGTTTTACAAGACTAGGAGGG 0.408000 5 22 0 0 0.000602214 0 0 PSG3 5671 broad.mit.edu 37 19 43233329 43233329 + Missense_Mutation SNP G G A rs149820484 byFrequency TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr19:43233329G>A ENST00000327495.5 - 5 1373 c.1189C>T c.(1189-1191)Cgt>Tgt p.R397C PSG3_ENST00000595140.1_Missense_Mutation_p.R397C NM_021016.3 NP_066296.2 Q16557 PSG3_HUMAN pregnancy specific beta-1-glycoprotein 3 397 Ig-like C2-type 3. defense response|female pregnancy extracellular region p.R397C(2) central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 36 Prostate(69;0.00682) GCTGAGTTACGAACAGAGCAA 0.448000 25 228 0 0 0.000586117 0 0 SLC10A2 6555 broad.mit.edu 37 13 103718278 103718278 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr13:103718278C>T ENST00000245312.3 - 1 918 c.322G>A c.(322-324)Gga>Aga p.G108R NM_000452.2 NP_000443.1 Q12908 NTCP2_HUMAN solute carrier family 10 (sodium/bile acid cotransporter), member 2 108 bile acid metabolic process|organic anion transport integral to plasma membrane bile acid:sodium symporter activity breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) GCAGTTCCTCCAGGGCAGCAT 0.507000 11 67 0 0 0.000978159 0 0 ADAMTS3 9508 broad.mit.edu 37 4 73148985 73148985 + Silent SNP T T G TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr4:73148985T>G ENST00000286657.4 - 22 3522 c.3486A>C c.(3484-3486)tcA>tcC p.S1162S NM_014243.2 NP_055058.2 O15072 ATS3_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 3 1162 collagen catabolic process|collagen fibril organization|proteolysis proteinaceous extracellular matrix heparin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) CAGCCATTTGTGAAGCTGAAC 0.502000 21 118 0 0 0.00229938 0 0 APOB 338 broad.mit.edu 37 2 21231540 21231540 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr2:21231540G>A ENST00000233242.1 - 26 8327 c.8200C>T c.(8200-8202)Cct>Tct p.P2734S NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 2734 Missing (in Ref. 15; AAA51758). cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity p.P2734S(1) NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TGAAGGTCAGGAACTTGAAAA 0.418000 45 319 0 0 0.00222228 0 0 UTP20 27340 broad.mit.edu 37 12 101755810 101755810 + Missense_Mutation SNP T T C TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr12:101755810T>C ENST00000261637.4 + 44 5936 c.5762T>C c.(5761-5763)tTg>tCg p.L1921S NM_014503.2 NP_055318.2 O75691 UTP20_HUMAN UTP20, small subunit (SSU) processome component, homolog (yeast) 1921 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 GTCGGAGATTTGGACTCTTGT 0.398000 24 148 0 0 0.00047179 0 0 USH2A 7399 broad.mit.edu 37 1 215963483 215963483 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:215963483C>T ENST00000366943.2 - 51 10486 c.10100G>A c.(10099-10101)aGc>aAc p.S3367N USH2A_ENST00000307340.3_Missense_Mutation_p.S3367N O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 3367 maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GCATTTCTGGCTCTTTGGAAT 0.383000 HNSCC(13;0.011) 7 32 0 0 0.000157383 0 0 KCNH5 27133 broad.mit.edu 37 14 63175027 63175027 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr14:63175027C>T ENST00000322893.7 - 11 2434 c.2166G>A c.(2164-2166)caG>caA p.Q722Q KCNH5_ENST00000420622.2_3'UTR NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 722 regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) GTGTTGAGCCCTGATTCCGCA 0.572000 14 110 0 0 0.00185496 0 0 TAS1R2 80834 broad.mit.edu 37 1 19180721 19180721 + Missense_Mutation SNP C C T rs35605435 TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:19180721C>T ENST00000375371.3 - 3 1264 c.1243G>A c.(1243-1245)Gtc>Atc p.V415I RP13-279N23.2_ENST00000494072.3_3'UTR NM_152232.2 NP_689418.2 Q8TE23 TS1R2_HUMAN taste receptor, type 1, member 2 415 detection of chemical stimulus involved in sensory perception of sweet taste plasma membrane protein heterodimerization activity|taste receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1) 45 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) Aspartame(DB00168) CAGGGGTAGACCACCCTCTTG 0.617000 8 27 0 0 0.000274275 0 0 MYOZ2 51778 broad.mit.edu 37 4 120107210 120107210 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr4:120107210C>T ENST00000307128.5 + 6 863 c.650C>T c.(649-651)cCc>cTc p.P217L NM_016599.4 NP_057683.1 Q9NPC6 MYOZ2_HUMAN myozenin 2 217 protein phosphatase 2B binding endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 16 CTAACAGATCCCAGGTTTATG 0.398000 11 62 0 0 0.000673444 0 0 TBR1 10716 broad.mit.edu 37 2 162273044 162273044 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr2:162273044G>A ENST00000389554.3 + 1 440 c.123G>A c.(121-123)tcG>tcA p.S41S NM_006593.2 NP_006584.1 Q16650 TBR1_HUMAN T-box, brain, 1 41 nucleus DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3) 30 CCATTATCTCGACCACTGACA 0.463000 8 46 0 0 0.000274275 0 0 BRAF 673 broad.mit.edu 37 7 140453134 140453134 + Missense_Mutation SNP T T C rs121913377 TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr7:140453134T>C ENST00000288602.6 - 15 1861 c.1801A>G c.(1801-1803)Aaa>Gaa p.K601E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 601 Protein kinase. K -> E (in colorectal cancer).|K -> Q (in CFC syndrome). 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.K601E(40)|p.V600_K601>E(12)|p.T599_R603>I(2)|p.K601del(1)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(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) CATCGAGATTTCACTGTAGCT 0.368000 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 27 40 0 0 0.0024448 0 0 UGGT1 56886 broad.mit.edu 37 2 128931494 128931494 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr2:128931494C>T ENST00000375990.3 + 30 3765 c.3362C>T c.(3361-3363)aCc>aTc p.T1121I UGGT1_ENST00000259253.6_Missense_Mutation_p.T1145I Q9NYU2 UGGG1_HUMAN UDP-glucose glycoprotein glucosyltransferase 1 1145 'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 63 ATTGTGGACACCATTGTTATG 0.428000 14 56 0 0 0.000566183 0 0 ZNF451 26036 broad.mit.edu 37 6 57015571 57015571 + Missense_Mutation SNP T T C TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr6:57015571T>C ENST00000370706.4 + 11 2907 c.2663T>C c.(2662-2664)aTa>aCa p.I888T RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|ZNF451_ENST00000357489.3_Intron|ZNF451_ENST00000491832.2_Missense_Mutation_p.I888T|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000589263.1_RNA|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA NM_001031623.2 NP_001026794.1 Q9Y4E5 ZN451_HUMAN zinc finger protein 451 888 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 Lung NSC(77;0.145) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) ATGACTCATATAGTCTTTGTA 0.368000 7 122 0 0 0.000157383 0 0 TCF7L2 6934 broad.mit.edu 37 10 114925412 114925412 + Missense_Mutation SNP C C T rs61724286 TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr10:114925412C>T ENST00000545257.1 + 15 2048 c.1541C>T c.(1540-1542)cCg>cTg p.P514L TCF7L2_ENST00000466338.1_3'UTR|TCF7L2_ENST00000538897.1_3'UTR|TCF7L2_ENST00000369397.4_Missense_Mutation_p.P491L|TCF7L2_ENST00000355717.4_3'UTR|TCF7L2_ENST00000542695.1_Missense_Mutation_p.P230L|TCF7L2_ENST00000543371.1_Missense_Mutation_p.P497L|TCF7L2_ENST00000369389.1_3'UTR|TCF7L2_ENST00000355995.4_Missense_Mutation_p.P514L|TCF7L2_ENST00000536810.1_Missense_Mutation_p.P497L|TCF7L2_ENST00000369386.1_3'UTR Q9NQB0 TF7L2_HUMAN transcription factor 7-like 2 (T-cell specific, HMG-box) 514 anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus beta-catenin-TCF7L2 complex|PML body|protein-DNA complex armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding VTI1A/TCF7L2(8) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1) 41 Breast(234;0.058)|Colorectal(252;0.0615) Epithelial(162;0.00554)|all cancers(201;0.02) CCCCCCTCCCCGAACCTGCTA 0.602000 T VTI1A colorectal 25 168 0 0 0.000878237 0 0 COL4A4 1286 broad.mit.edu 37 2 227945167 227945167 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr2:227945167C>T ENST00000396625.3 - 24 2002 c.1795G>A c.(1795-1797)Gga>Aga p.G599R COL4A4_ENST00000329662.7_Missense_Mutation_p.G599R NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 599 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) ACTGGAGGTCCTGGATCCCCT 0.463000 24 111 0 0 0.000586117 0 0 OR51A2 401667 broad.mit.edu 37 11 4976683 4976683 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr11:4976683G>A ENST00000380371.1 - 1 260 c.261C>T c.(259-261)ttC>ttT p.F87F MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001004748.1 NP_001004748.1 Q8NGJ7 O51A2_HUMAN olfactory receptor, family 51, subfamily A, member 2 87 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) CATTGAACAGGAAGATGCTTA 0.463000 8 33 0 0 0.000673444 0 0 MPP7 143098 broad.mit.edu 37 10 28420551 28420551 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr10:28420551C>T ENST00000337532.5 - 7 661 c.385G>A c.(385-387)Gat>Aat p.D129N MPP7_ENST00000445954.2_Missense_Mutation_p.D4N|MPP7_ENST00000375732.1_Missense_Mutation_p.D129N|MPP7_ENST00000540098.1_Missense_Mutation_p.D129N|MPP7_ENST00000481244.1_5'UTR|MPP7_ENST00000375719.3_Missense_Mutation_p.D129N NM_173496.3 NP_775767.2 Q5T2T1 MPP7_HUMAN membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) 129 establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly MPP7-DLG1-LIN7 complex|tight junction protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1) 22 TCGTCAATATCTTCAGGCATA 0.393000 12 72 0 0 0.00136819 0 0 SPOCK3 50859 broad.mit.edu 37 4 167663152 167663152 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr4:167663152G>A ENST00000357154.3 - 10 1136 c.999C>T c.(997-999)ctC>ctT p.L333L SPOCK3_ENST00000504953.1_Silent_p.L330L|SPOCK3_ENST00000541637.1_Silent_p.L235L|SPOCK3_ENST00000541354.1_Silent_p.L213L|SPOCK3_ENST00000535728.1_Silent_p.L201L|SPOCK3_ENST00000502330.1_Silent_p.L333L|SPOCK3_ENST00000534949.1_Silent_p.L237L|SPOCK3_ENST00000510741.1_Silent_p.L290L|SPOCK3_ENST00000357545.4_Silent_p.L330L|SPOCK3_ENST00000511269.1_Silent_p.L330L|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000512681.1_Silent_p.L235L|SPOCK3_ENST00000506886.1_Silent_p.L333L|SPOCK3_ENST00000421836.2_Silent_p.L282L|SPOCK3_ENST00000511531.1_Silent_p.L333L NM_016950.2 NP_058646.2 Q9BQ16 TICN3_HUMAN sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 333 Thyroglobulin type-1. signal transduction proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase inhibitor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 38 all_hematologic(180;0.221) Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198) GBM - Glioblastoma multiforme(119;0.02) ACTCACCTAGGAGCTTCTTTA 0.378000 7 79 0 0 0.000442599 0 0 FMN2 56776 broad.mit.edu 37 1 240370979 240370979 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:240370979C>T ENST00000319653.9 + 5 3097 c.2867C>T c.(2866-2868)cCg>cTg p.P956L NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 956 FH1.|Pro-rich. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding p.P1099L(2) NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) ATACCCCCTCCGCCCCCTCTT 0.697000 4 21 0 0 0.000602214 0 0 SLC4A7 9497 broad.mit.edu 37 3 27427485 27427485 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr3:27427485G>A ENST00000295736.5 - 23 3433 c.3363C>T c.(3361-3363)ctC>ctT p.L1121L SLC4A7_ENST00000445684.1_Silent_p.L1117L|SLC4A7_ENST00000435667.2_Silent_p.L1006L|SLC4A7_ENST00000440156.1_Silent_p.L1117L|SLC4A7_ENST00000388777.4_Silent_p.L671L|SLC4A7_ENST00000455077.1_Silent_p.L1002L|SLC4A7_ENST00000437179.1_Silent_p.L1002L|SLC4A7_ENST00000428386.1_Silent_p.L997L|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000454389.1_Silent_p.L1130L|SLC4A7_ENST00000446700.1_Silent_p.L1113L NM_003615.4 NP_003606.3 Q9Y6M7 S4A7_HUMAN solute carrier family 4, sodium bicarbonate cotransporter, member 7 1121 apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1) 38 ACAGGTCCATGAGTTTGCGCA 0.343000 28 173 0 0 0.00178596 0 0 SLC35F5 80255 broad.mit.edu 37 2 114501363 114501363 + Silent SNP A A G TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr2:114501363A>G ENST00000245680.2 - 6 902 c.489T>C c.(487-489)ccT>ccC p.P163P SLC35F5_ENST00000409342.1_Silent_p.P157P NM_025181.2 NP_079457.2 Q8WV83 S35F5_HUMAN solute carrier family 35, member F5 163 transport integral to membrane endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1) 20 GCACATACAGAGGTTCACTCT 0.323000 21 119 0 0 0.00278032 0 0 PAFAH1B1 5048 broad.mit.edu 37 17 2570400 2570400 + Missense_Mutation SNP G G C TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr17:2570400G>C ENST00000397195.5 + 5 758 c.307G>C c.(307-309)Gca>Cca p.A103P NM_000430.3 NP_000421.1 P43034 LIS1_HUMAN platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa) 103 Interaction with dynein and dynactin. acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1) 11 AGAAAAATATGCATTGAGTGG 0.428000 7 47 0 0 0.00198382 0 0 ASTN2 23245 broad.mit.edu 37 9 119249696 119249696 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr9:119249696G>A ENST00000313400.4 - 20 3539 c.3439C>T c.(3439-3441)Cct>Tct p.P1147S ASTN2_ENST00000373996.3_Missense_Mutation_p.P1143S|ASTN2_ENST00000288520.5_Missense_Mutation_p.P248S|ASTN2_ENST00000361477.3_Missense_Mutation_p.P199S|ASTN2_ENST00000361209.2_Missense_Mutation_p.P1096S|ASTN2_ENST00000341734.4_Missense_Mutation_p.P199S O75129 ASTN2_HUMAN astrotactin 2 1147 Fibronectin type-III. integral to membrane breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1) 102 CTGACTTCAGGGACCTCTCCA 0.507000 7 72 0 0 0.000157383 0 0 PRKAA2 5563 broad.mit.edu 37 1 57159464 57159464 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:57159464G>A ENST00000371244.4 + 5 568 c.502G>A c.(502-504)Gaa>Aaa p.E168K NM_006252.3 NP_006243.2 P54646 AAPK2_HUMAN protein kinase, AMP-activated, alpha 2 catalytic subunit 168 Protein kinase. carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleoplasm ATP binding|metal ion binding breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1) 23 GTCAGATGGTGAATTTCTGAG 0.318000 14 115 0 0 0.00244969 0 0 PCDHB5 26167 broad.mit.edu 37 5 140516369 140516369 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr5:140516369C>T ENST00000231134.5 + 1 1570 c.1353C>T c.(1351-1353)acC>acT p.T451T NM_015669.2 NP_056484.1 Q9Y5E4 PCDB5_HUMAN 451 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 81 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCGCCTTCACCCAAACCTCCT 0.602000 20 120 0 0 0.00188189 0 0 ODF4 146852 broad.mit.edu 37 17 8243413 8243413 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr17:8243413G>A ENST00000328248.2 + 1 232 c.44G>A c.(43-45)gGa>gAa p.G15E ODF4_ENST00000584943.1_Missense_Mutation_p.G15E NM_153007.4 NP_694552.2 Q2M2E3 ODFP4_HUMAN outer dense fiber of sperm tails 4 15 cell differentiation|multicellular organismal development|spermatogenesis integral to membrane endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|stomach(1) 8 AGGTCAGAAGGAGAAAGAGAC 0.542000 6 57 0 0 0.000274275 0 0 TRBV5-5 28610 broad.mit.edu 37 7 142149113 142149113 + RNA SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr7:142149113C>T ENST00000390372.3 - 0 164 CTGTTGGTACCAGGACACACT 0.512000 10 112 0 0 0.00136819 0 0 KCND3 3752 broad.mit.edu 37 1 112524544 112524544 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:112524544G>A ENST00000369697.1 - 1 874 c.805C>T c.(805-807)Ccc>Tcc p.P269S KCND3_ENST00000315987.2_Missense_Mutation_p.P269S|KCND3_ENST00000302127.4_Missense_Mutation_p.P269S Q9UK17 KCND3_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 3 269 sarcolemma|voltage-gated potassium channel complex A-type (transient outward) potassium channel activity|metal ion binding NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 49 all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05) all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231) ATGTAGTAGGGCATGATGGCC 0.602000 16 81 0 0 0.000422831 0 0 KBTBD8 84541 broad.mit.edu 37 3 67054066 67054066 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr3:67054066G>A ENST00000295568.4 + 3 728 c.597G>A c.(595-597)caG>caA p.Q199Q KBTBD8_ENST00000460576.1_Intron|KBTBD8_ENST00000417314.2_Silent_p.Q225Q|KBTBD8_ENST00000469661.1_3'UTR NM_032505.2 NP_115894.2 Q8NFY9 KBTB8_HUMAN kelch repeat and BTB (POZ) domain containing 8 225 BACK. breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1) 20 Lung NSC(201;0.0765) BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125) AGCATGAACAGAATGAAAGAG 0.368000 7 43 0 0 0.000157383 0 0 OR4A15 81328 broad.mit.edu 37 11 55135906 55135906 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr11:55135906C>T ENST00000314706.3 + 1 547 c.547C>T c.(547-549)Cac>Tac p.H183Y NM_001005275.1 NP_001005275.1 Q8NGL6 O4A15_HUMAN olfactory receptor, family 4, subfamily A, member 15 183 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 71 AGGCTTTCTTCACTCATTGGT 0.428000 9 41 0 0 0.000442599 0 0 LAMA3 3909 broad.mit.edu 37 18 21533014 21533014 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr18:21533014G>A ENST00000313654.9 + 74 10038 c.9797G>A c.(9796-9798)gGa>gAa p.G3266E LAMA3_ENST00000269217.6_Missense_Mutation_p.G1657E|LAMA3_ENST00000399516.3_Missense_Mutation_p.G3210E|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Missense_Mutation_p.G1601E NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 3266 Laminin G-like 5. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TACACAGCTGGACAGATCCCC 0.522000 15 73 0 0 0.000422831 0 0 PDE6C 5146 broad.mit.edu 37 10 95399917 95399917 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr10:95399917G>A ENST00000371447.3 + 12 1711 c.1573G>A c.(1573-1575)Gga>Aga p.G525R NM_006204.3 NP_006195.3 P51160 PDE6C_HUMAN phosphodiesterase 6C, cGMP-specific, cone, alpha prime 525 visual perception plasma membrane 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 42 Colorectal(252;0.123) GATTAAATGTGGAATACGACT 0.413000 6 44 0 0 0.00116845 0 0 ZNF536 9745 broad.mit.edu 37 19 30935759 30935759 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr19:30935759C>T ENST00000355537.3 + 2 1437 c.1290C>T c.(1288-1290)taC>taT p.Y430Y NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 430 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) ACTCCAGGTACCTCTCCTGCC 0.642000 8 39 0 0 0.000274275 0 0 PCDHGA6 56109 broad.mit.edu 37 5 140754309 140754309 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr5:140754309C>T ENST00000517434.1 + 1 659 c.659C>T c.(658-660)cCt>cTt p.P220L PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron NM_018919.2|NM_032086.1 NP_061742.1|NP_114475.1 breast(1)|large_intestine(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGCGGCGACCCTGTCCGCTCA 0.557000 3 13 0 0 6.4e-05 0 0 OR5B12 390191 broad.mit.edu 37 11 58207275 58207275 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr11:58207275G>A ENST00000302572.2 - 1 371 c.350C>T c.(349-351)gCc>gTc p.A117V NM_001004733.2 NP_001004733.1 Q96R08 OR5BC_HUMAN olfactory receptor, family 5, subfamily B, member 12 117 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1) 40 Esophageal squamous(5;0.0027) Breast(21;0.0778) GCGGTCATAGGCCATTGATGC 0.443000 19 66 0 0 0.000958276 0 0 OR10H1 26539 broad.mit.edu 37 19 15918098 15918098 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr19:15918098G>A ENST00000334920.2 - 1 838 c.750C>T c.(748-750)gtC>gtT p.V250V NM_013940.2 NP_039228.1 Q9Y4A9 O10H1_HUMAN olfactory receptor, family 10, subfamily H, member 1 250 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1) 29 CATAGTGCACGACCACCACAG 0.552000 5 37 0 0 0.000442599 0 0 C17orf74 201243 broad.mit.edu 37 17 7330090 7330090 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr17:7330090C>T ENST00000333870.3 + 3 854 c.780C>T c.(778-780)cgC>cgT p.R260R C17orf74_ENST00000574034.1_3'UTR|RP11-104H15.7_ENST00000575310.1_RNA NM_175734.4 NP_783861.3 Q0P670 CQ074_HUMAN chromosome 17 open reading frame 74 260 integral to membrane cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 22 Prostate(122;0.157) CCTATGGGCGCCACGGTTCCC 0.652000 7 31 0 0 0.000157383 0 0 PKDREJ 10343 broad.mit.edu 37 22 46653538 46653538 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr22:46653538G>A ENST00000253255.5 - 1 5681 c.5682C>T c.(5680-5682)tcC>tcT p.S1894S NM_006071.1 NP_006062.1 Q9NTG1 PKDRE_HUMAN polycystin (PKD) family receptor for egg jelly 1894 acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 73 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) GCCTCAGTGTGGAATTAAACC 0.393000 18 141 0 0 0.00074312 0 0 KRT85 3891 broad.mit.edu 37 12 52760942 52760942 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr12:52760942C>T ENST00000257901.3 - 1 323 c.248G>A c.(247-249)cGc>cAc p.R83H NM_002283.3 NP_002274.1 P78386 KRT85_HUMAN keratin 85 83 Head. epidermis development keratin filament protein binding|structural molecule activity NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 36 Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088) BRCA - Breast invasive adenocarcinoma(357;0.189) GCCCCCGGAGCGGTAGCCGAA 0.692000 13 70 0 0 0.00185496 0 0 FLNC 2318 broad.mit.edu 37 7 128493032 128493032 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr7:128493032C>T ENST00000325888.8 + 37 6416 c.6155C>T c.(6154-6156)tCc>tTc p.S2052F RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.S2019F NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 2052 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 AAGGGGCTTTCCGAGGGACAC 0.617000 43 93 0 0 0.000781405 0 0 OR6F1 343169 broad.mit.edu 37 1 247876018 247876018 + Silent SNP A A G TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:247876018A>G ENST00000302084.2 - 1 87 c.40T>C c.(40-42)Tta>Cta p.L14L RP11-634B7.4_ENST00000449298.1_RNA NM_001005286.1 NP_001005286.1 Q8NGZ6 OR6F1_HUMAN olfactory receptor, family 6, subfamily F, member 1 14 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2) 47 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.0168) AAGCCCAGTAAGAGAAAGTCC 0.458000 12 82 0 0 0.00136819 0 0 CEACAM5 1048 broad.mit.edu 37 19 42213745 42213745 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr19:42213745G>A ENST00000221992.6 + 2 325 c.211G>A c.(211-213)Gaa>Aaa p.E71K CEA_ENST00000598976.1_Missense_Mutation_p.E71K|CEACAM5_ENST00000405816.1_Missense_Mutation_p.E71K|CEACAM5_ENST00000398599.4_Missense_Mutation_p.E71K NM_004363.2 NP_004354.2 P06731 CEAM5_HUMAN carcinoembryonic antigen-related cell adhesion molecule 5 71 Ig-like 1. anchored to membrane|basolateral plasma membrane|integral to plasma membrane breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 34 OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142) GTACAAAGGTGAAAGAGTGGA 0.478000 8 69 0 0 0.000958276 0 0 ZNF521 25925 broad.mit.edu 37 18 22804972 22804972 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr18:22804972G>A ENST00000361524.3 - 4 3058 c.2910C>T c.(2908-2910)tcC>tcT p.S970S ZNF521_ENST00000538137.2_Silent_p.S970S|ZNF521_ENST00000584787.1_Silent_p.S750S NM_015461.2 NP_056276.1 Q96K83 ZN521_HUMAN zinc finger protein 521 970 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 149 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) GAGTTAAAAGGGAGGGAAACC 0.483000 T PAX5 ALL 16 61 0 0 0.000422831 0 0 MDH1B 130752 broad.mit.edu 37 2 207620056 207620056 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr2:207620056G>A ENST00000374412.3 - 5 862 c.587C>T c.(586-588)tCc>tTc p.S196F MDH1B_ENST00000392214.2_Intron|MDH1B_ENST00000449792.1_Missense_Mutation_p.S98F|MDH1B_ENST00000454776.2_Missense_Mutation_p.S196F NM_001039845.1 NP_001034934.1 Q5I0G3 MDH1B_HUMAN malate dehydrogenase 1B, NAD (soluble) 196 carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle binding|malate dehydrogenase activity NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1) 34 LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145) CGTGCAGATGGAGACACTGCG 0.552000 8 48 0 0 0.000442599 0 0 MUC17 140453 broad.mit.edu 37 7 100685591 100685591 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr7:100685591G>A ENST00000306151.4 + 3 10958 c.10894G>A c.(10894-10896)Gaa>Aaa p.E3632K NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 3632 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) AACTCCTAGTGAAGTAAGCAC 0.488000 12 99 0 0 0.00136819 0 0 DYNC1I1 1780 broad.mit.edu 37 7 95614188 95614188 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr7:95614188C>T ENST00000324972.6 + 8 886 c.693C>T c.(691-693)ctC>ctT p.L231L DYNC1I1_ENST00000457059.1_Silent_p.L214L|DYNC1I1_ENST00000537881.1_Silent_p.L194L|DYNC1I1_ENST00000447467.2_Silent_p.L214L|DYNC1I1_ENST00000359388.4_Silent_p.L194L|DYNC1I1_ENST00000437599.1_Silent_p.L211L NM_004411.4 NP_004402.1 O14576 DC1I1_HUMAN dynein, cytoplasmic 1, intermediate chain 1 231 vesicle transport along microtubule condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle microtubule binding|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 54 all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191) STAD - Stomach adenocarcinoma(171;0.0957) AGGAATTTCTCATCTTTTTTG 0.398000 6 61 0 0 0.00116845 0 0 FAM173B 134145 broad.mit.edu 37 5 10239295 10239295 + Nonsense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr5:10239295G>A ENST00000511437.1 - 2 202 c.190C>T c.(190-192)Cga>Tga p.R64* FAM173B_ENST00000280330.8_5'UTR|FAM173B_ENST00000510047.1_Nonsense_Mutation_p.R64*|FAM173B_ENST00000510052.1_5'UTR NM_199133.3 NP_954584.2 Q6P4H8 F173B_HUMAN family with sequence similarity 173, member B 64 integral to membrane breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 16 CAGACTTTTCGAAGGGCTGGC 0.507000 18 93 0 0 0.00278032 0 0 PCDHA11 56138 broad.mit.edu 37 5 140248760 140248760 + Missense_Mutation SNP G G T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr5:140248760G>T ENST00000398640.2 + 1 72 c.72G>T c.(70-72)tgG>tgT p.W24C PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron NM_018902.3 NP_061725.1 breast(1)|lung(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCGAATTCTGGGAGGTGGGGA 0.602000 20 108 2.39556e-15 9.48698e-15 0.00278032 1 0 KAT6A 7994 broad.mit.edu 37 8 41812837 41812837 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr8:41812837G>A ENST00000396930.3 - 10 2118 c.1575C>T c.(1573-1575)tcC>tcT p.S525S KAT6A_ENST00000406337.1_Silent_p.S525S|KAT6A_ENST00000485568.1_Silent_p.S525S|KAT6A_ENST00000265713.2_Silent_p.S525S NM_001099412.1 NP_001092882.1 Q92794 MYST3_HUMAN K(lysine) acetyltransferase 6A 525 Catalytic.|Interaction with RUNX1-1.|Mediates interaction with BRPF1, required for histone H3 acetyltransferase activity. histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding p.S525S(1) GAGGATATGGGGAGGAGTACC 0.463000 7 52 0 0 0.000274275 0 0 PLCH1 23007 broad.mit.edu 37 3 155311961 155311961 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr3:155311961G>A ENST00000460012.1 - 4 506 c.149C>T c.(148-150)tCc>tTc p.S50F PLCH1_ENST00000494598.1_Missense_Mutation_p.S68F|PLCH1_ENST00000340059.7_Missense_Mutation_p.S68F|PLCH1_ENST00000334686.6_Missense_Mutation_p.S50F|PLCH1_ENST00000447496.2_Missense_Mutation_p.S68F|PLCH1_ENST00000414191.1_Missense_Mutation_p.S50F Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 68 PH. lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) TTTGTAAATGGAATCAATAAG 0.423000 8 56 0 0 0.000442599 0 0 C20orf112 140688 broad.mit.edu 37 20 31044018 31044018 + Missense_Mutation SNP G G A rs146253793 byFrequency TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr20:31044018G>A ENST00000359676.5 - 3 432 c.290C>T c.(289-291)cCg>cTg p.P97L C20orf112_ENST00000475781.1_5'UTR NM_001256798.1|NM_080616.4 NP_001243727.1|NP_542183.2 Q96MY1 CT112_HUMAN chromosome 20 open reading frame 112 97 endometrium(3)|kidney(2)|large_intestine(5)|lung(5) 15 TGCCGTGGCCGGCGGGAGCTT 0.682000 10 66 0 0 0.000673444 0 0 CHRNA4 1137 broad.mit.edu 37 20 61981702 61981702 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr20:61981702C>T ENST00000370263.4 - 5 1282 c.1061G>A c.(1060-1062)cGc>cAc p.R354H CHRNA4_ENST00000463705.1_5'UTR NM_000744.6|NM_001256573.1 NP_000735.1|NP_001243502.1 P43681 ACHA4_HUMAN cholinergic receptor, nicotinic, alpha 4 (neuronal) 354 B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1) 33 all_cancers(38;1.71e-10) Nicotine(DB00184)|Varenicline(DB01273) GAGGAGCAGGCGTGGCACGAT 0.637000 7 50 0 0 0.000274275 0 0 PLA2G4D 283748 broad.mit.edu 37 15 42363464 42363464 + Nonsense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr15:42363464C>T ENST00000290472.3 - 17 1827 c.1733G>A c.(1732-1734)tGg>tAg p.W578* NM_178034.3 NP_828848.3 Q86XP0 PA24D_HUMAN phospholipase A2, group IVD (cytosolic) 578 PLA2c. phospholipid catabolic process cytoplasmic vesicle membrane|cytosol metal ion binding|phospholipase A2 activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1) 27 all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245) OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06) TGGCTGCAGCCACGAGGCCTC 0.637000 8 34 0 0 0.000442599 0 0 SLC17A6 57084 broad.mit.edu 37 11 22391717 22391717 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr11:22391717G>A ENST00000263160.3 + 8 1461 c.1024G>A c.(1024-1026)Gga>Aga p.G342R NM_020346.2 NP_065079.1 Q9P2U8 VGLU2_HUMAN solute carrier family 17 (vesicular glutamate transporter), member 6 342 sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3) 50 GGAAGTCTTTGGATTTGAAAT 0.299000 7 61 0 0 0.000157383 0 0 OR5M10 390167 broad.mit.edu 37 11 56344634 56344634 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr11:56344634G>A ENST00000526812.2 - 1 629 c.564C>T c.(562-564)gcC>gcT p.A188A NM_001004741.1 NP_001004741.1 Q6IEU7 OR5MA_HUMAN olfactory receptor, family 5, subfamily M, member 10 188 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2) 25 TGTCAGAGCAGGCCAGCATGA 0.448000 17 56 0 0 0.000422831 0 0 PPFIA2 8499 broad.mit.edu 37 12 81762578 81762578 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr12:81762578C>T ENST00000550584.2 - 12 1703 c.1408G>A c.(1408-1410)Gat>Aat p.D470N PPFIA2_ENST00000550359.2_Missense_Mutation_p.D317N|PPFIA2_ENST00000549396.1_Missense_Mutation_p.D470N|PPFIA2_ENST00000548586.1_Missense_Mutation_p.D470N|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000407050.4_Missense_Mutation_p.D396N|PPFIA2_ENST00000333447.7_Missense_Mutation_p.D452N|PPFIA2_ENST00000541570.2_Missense_Mutation_p.D37N|PPFIA2_ENST00000443686.3_Missense_Mutation_p.D371N|PPFIA2_ENST00000552948.1_Missense_Mutation_p.D470N|PPFIA2_ENST00000549325.1_Missense_Mutation_p.D452N|PPFIA2_ENST00000541017.1_5'UTR NM_001220473.1 NP_001207402.1 B7Z663 B7Z663_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 396 NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5) 85 AGAAGTCTATCAACCGTATCC 0.353000 4 20 0 0 0.00024832 0 0 DNAH5 1767 broad.mit.edu 37 5 13830199 13830199 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr5:13830199G>A ENST00000265104.4 - 37 6289 c.6185C>T c.(6184-6186)tCt>tTt p.S2062F NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2062 AAA 1 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) AAAGATAAAAGACTTTTTGTG 0.383000 Kartagener syndrome 6 38 0 0 0.000157383 0 0 GPR133 283383 broad.mit.edu 37 12 131616322 131616322 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr12:131616322C>T ENST00000261654.5 + 21 2787 c.2228C>T c.(2227-2229)gCc>gTc p.A743V GPR133_ENST00000540207.1_3'UTR|GPR133_ENST00000543617.1_Missense_Mutation_p.A262V|GPR133_ENST00000535015.1_Missense_Mutation_p.A775V|GPR133_ENST00000376682.4_Missense_Mutation_p.A429V NM_198827.3 NP_942122.2 Q6QNK2 GP133_HUMAN G protein-coupled receptor 133 743 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4) 67 all_neural(191;0.0982)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06) CAGATCAGCGCCGACAACTAC 0.572000 5 51 0 0 0.000157383 0 0 ERF 2077 broad.mit.edu 37 19 42752971 42752971 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr19:42752971C>T ENST00000222329.4 - 4 1450 c.1293G>A c.(1291-1293)tcG>tcA p.S431S ERF_ENST00000440177.2_Silent_p.S356S|AC006486.9_ENST00000594664.1_Intron NM_006494.2 NP_006485.2 P50548 ERF_HUMAN Ets2 repressor factor 431 cell proliferation|regulation of transcription from RNA polymerase II promoter nucleus ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1) 17 Prostate(69;0.00682) ACTCGCCTTCCGAGATGGGCT 0.662000 22 148 0 0 0.00278032 0 0 PRSS54 221191 broad.mit.edu 37 16 58320099 58320099 + Splice_Site SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr16:58320099C>T ENST00000219301.4 - 5 658 c.263_splice c.e5-1 p.R88_splice PRSS54_ENST00000543437.1_5'UTR|PRSS54_ENST00000567164.1_Splice_Site_p.R88_splice NM_001080492.1 NP_001073961.1 Q6PEW0 PRS54_HUMAN protease, serine, 54 88 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 CAATGTCCTTCCTGGAGAGAG 0.443000 8 69 0 0 0.000442599 0 0 DNAH7 56171 broad.mit.edu 37 2 196825163 196825163 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr2:196825163C>T ENST00000312428.6 - 18 2812 c.2712G>A c.(2710-2712)gcG>gcA p.A904A NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 904 Stem (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 TCTTCTCCATCGCCTTTTCAA 0.378000 18 85 0 0 0.000958276 0 0 ASAP1 50807 broad.mit.edu 37 8 131138245 131138245 + Missense_Mutation SNP A A T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr8:131138245A>T ENST00000357668.1 - 16 1499 c.1472T>A c.(1471-1473)aTt>aAt p.I491N ASAP1_ENST00000518721.1_Missense_Mutation_p.I491N Q9ULH1 ASAP1_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 491 Arf-GAP. cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction cytoplasm|membrane ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 68 CAAAGACTGAATGCGAGAAAT 0.388000 18 48 0 0 0.00121646 0 0 GPR115 221393 broad.mit.edu 37 6 47675989 47675989 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr6:47675989G>A ENST00000283303.2 + 3 381 c.123G>A c.(121-123)ggG>ggA p.G41G GPR115_ENST00000371220.1_Silent_p.G98G|GPR115_ENST00000327753.3_Silent_p.G41G NM_153838.3 NP_722580.3 Q8IZF3 GP115_HUMAN G protein-coupled receptor 115 41 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 52 GCCCTGAAGGGAAACCCAAGA 0.453000 4 19 0 0 0.000602214 0 0 ACSS1 84532 broad.mit.edu 37 20 24994654 24994654 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr20:24994654G>A ENST00000537502.1 - 7 2677 c.1146C>T c.(1144-1146)ctC>ctT p.L382L ACSS1_ENST00000432802.2_Silent_p.L465L|ACSS1_ENST00000323482.4_Silent_p.L465L|ACSS1_ENST00000542618.1_Silent_p.L344L Q9NUB1 ACS2L_HUMAN acyl-CoA synthetase short-chain family member 1 465 acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process mitochondrial matrix acetate-CoA ligase activity|AMP binding|ATP binding|protein binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 26 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) CCATGGCAGGGAGGATTTCCG 0.587000 4 17 0 0 0.000602214 0 0 BAG1 573 broad.mit.edu 37 9 33264545 33264545 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr9:33264545G>A ENST00000472232.3 - 1 214 c.128C>T c.(127-129)cCc>cTc p.P43L BAG1_ENST00000379704.2_5'UTR NM_001172415.1|NM_004323.5 NP_001165886.1|NP_004314.5 Q99933 BAG1_HUMAN BCL2-associated athanogene 43 Arg-rich. anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|chaperone cofactor-dependent protein refolding cytoplasm|intermediate filament cytoskeleton|nucleus protein binding|receptor signaling protein activity endometrium(1)|large_intestine(3)|lung(3)|ovary(1) 8 LUSC - Lung squamous cell carcinoma(29;0.00506) ACGCCCAGAGGGAGGCGGACC 0.771000 3 12 0 0 6.4e-05 0 0 GLG1 2734 broad.mit.edu 37 16 74505106 74505106 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr16:74505106C>T ENST00000422840.2 - 15 2193 c.2194G>A c.(2194-2196)Gag>Aag p.E732K GLG1_ENST00000205061.5_Missense_Mutation_p.E732K|GLG1_ENST00000447066.2_Missense_Mutation_p.E721K NM_001145667.1 NP_001139139.1 Q92896 GSLG1_HUMAN golgi glycoprotein 1 732 Golgi membrane|integral to membrane receptor binding breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1) 57 GCACACTTCTCGTTCATGTCC 0.498000 25 229 0 0 0.00047179 0 0 MECOM 2122 broad.mit.edu 37 3 168845645 168845645 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr3:168845645G>A ENST00000464456.1 - 4 1453 c.253C>T c.(253-255)Cct>Tct p.P85S MECOM_ENST00000472280.1_Missense_Mutation_p.P85S|MECOM_ENST00000468789.1_Missense_Mutation_p.P85S|MECOM_ENST00000392736.3_Missense_Mutation_p.P85S|MECOM_ENST00000264674.3_Missense_Mutation_p.P149S|MECOM_ENST00000433243.2_Missense_Mutation_p.P85S|MECOM_ENST00000494292.1_Missense_Mutation_p.P273S|MECOM_ENST00000460814.1_Missense_Mutation_p.P85S NM_001164000.1 NP_001157472.1 Q13465 MDS1_HUMAN MDS1 and EVI1 complex locus 0 sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 TGCAAATCAGGAAAAACTTGG 0.383000 4 68 0 0 0.00024832 0 0 PILRB 29990 broad.mit.edu 37 7 99956576 99956576 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr7:99956576C>T ENST00000310771.4 + 16 2824 c.328C>T c.(328-330)Ctc>Ttc p.L110F PILRB_ENST00000444874.1_Missense_Mutation_p.P40L|PILRB_ENST00000444073.1_Missense_Mutation_p.L110F|PILRB_ENST00000452089.1_Missense_Mutation_p.L110F|PILRB_ENST00000448382.1_Missense_Mutation_p.P162L Q9UKJ0 PILRB_HUMAN paired immunoglobin-like type 2 receptor beta 110 Ig-like V-type. activation of transmembrane receptor protein tyrosine kinase activity integral to plasma membrane protein binding|receptor activity endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 13 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GAGCGGCTTCCTCAGGATCTC 0.562000 24 134 0 0 0.000720815 0 0 SALL1 6299 broad.mit.edu 37 16 51175391 51175391 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr16:51175391C>T ENST00000440970.1 - 2 882 c.451G>A c.(451-453)Gaa>Aaa p.E151K SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.E248K NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 248 Poly-Ser. adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) CGAATCTGTTCGATCAATTGC 0.542000 20 125 0 0 0.00278032 0 0 SF3B4 10262 broad.mit.edu 37 1 149895472 149895472 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:149895472G>A ENST00000271628.8 - 6 1821 c.1237C>T c.(1237-1239)Ccc>Tcc p.P413S NM_005850.4 NP_005841.1 Q15427 SF3B4_HUMAN splicing factor 3b, subunit 4, 49kDa 413 nucleoplasm|U12-type spliceosomal complex nucleotide binding|protein binding|RNA binding endometrium(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1) 17 Breast(34;0.0009)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247) CCTCGAGGGGGAACTGGTGGC 0.582000 11 32 0 0 0.000978159 0 0 PGBD4 161779 broad.mit.edu 37 15 34395929 34395929 + Silent SNP C C T rs150359363 byFrequency TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr15:34395929C>T ENST00000397766.2 + 1 1656 c.1197C>T c.(1195-1197)ttC>ttT p.F399F NM_152595.4 NP_689808.2 Q96DM1 PGBD4_HUMAN piggyBac transposable element derived 4 399 breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1) 16 all_lung(180;1.76e-08) all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242) TGTCAACATTCCACAATGATA 0.413000 9 60 0 0 0.000274275 0 0 FYCO1 79443 broad.mit.edu 37 3 46009752 46009752 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr3:46009752C>T ENST00000296137.2 - 8 1279 c.1074G>A c.(1072-1074)ctG>ctA p.L358L FYCO1_ENST00000535325.1_Silent_p.L358L NM_024513.3 NP_078789.2 Q9BQS8 FYCO1_HUMAN FYVE and coiled-coil domain containing 1 358 transport integral to membrane metal ion binding|protein binding NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 54 BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323) TTTTCTTGTCCAGTGAGTCCC 0.592000 29 120 0 0 0.001512 0 0 GLUD1 2746 broad.mit.edu 37 10 88818905 88818905 + Splice_Site SNP A A C TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr10:88818905A>C ENST00000277865.4 - 10 1499 c.e10+1 GLUD1_ENST00000544149.1_Splice_Site|GLUD1_ENST00000537649.1_Splice_Site NM_005271.3 NP_005262.1 P00367 DHE3_HUMAN glutamate dehydrogenase 1 glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion mitochondrial matrix ADP binding|ATP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|identical protein binding|leucine binding|NAD+ binding endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1) 22 L-Glutamic Acid(DB00142)|NADH(DB00157) ATCGATACTCACTGAGCAAGT 0.403000 25 128 0 0 0.000878237 0 0 LPHN1 22859 broad.mit.edu 37 19 14262155 14262155 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr19:14262155C>T ENST00000340736.6 - 24 4252 c.3955G>A c.(3955-3957)Gag>Aag p.E1319K CTB-55O6.12_ENST00000588387.1_RNA|CTB-55O6.12_ENST00000588658.1_RNA|LPHN1_ENST00000361434.3_Missense_Mutation_p.E1314K NM_001008701.2 NP_001008701.1 O94910 LPHN1_HUMAN latrophilin 1 1319 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 GCCTCTTCCTCGCCCCCGCCC 0.716000 4 13 0 0 0.00024832 0 0 TRPM8 79054 broad.mit.edu 37 2 234894442 234894442 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr2:234894442C>T ENST00000324695.4 + 21 2912 c.2872C>T c.(2872-2874)Ccc>Tcc p.P958S TRPM8_ENST00000433712.2_Missense_Mutation_p.P536S NM_024080.4 NP_076985.4 Q7Z2W7 TRPM8_HUMAN transient receptor potential cation channel, subfamily M, member 8 958 integral to membrane breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2) 66 Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224) Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108) Menthol(DB00825) GATCACCATCCCCCTGGTGTG 0.542000 7 48 0 0 0.00198382 0 0 OGDH 4967 broad.mit.edu 37 7 44741166 44741166 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr7:44741166C>T ENST00000222673.5 + 20 2626 c.2584C>T c.(2584-2586)Ctg>Ttg p.L862L OGDH_ENST00000449767.1_Silent_p.L858L|OGDH_ENST00000447398.1_Silent_p.L873L|OGDH_ENST00000444676.1_Silent_p.L877L|OGDH_ENST00000439616.2_Silent_p.L712L|OGDH_ENST00000543843.1_Silent_p.L813L NM_002541.3 NP_002532.2 Q02218 ODO1_HUMAN oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) 862 glycolysis|lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|mitochondrial membrane oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 36 NADH(DB00157) CCCCAAATCCCTGTTGCGCCA 0.498000 10 53 0 0 0.000978159 0 0 TIE1 7075 broad.mit.edu 37 1 43778085 43778085 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:43778085C>T ENST00000372476.3 + 12 1819 c.1740C>T c.(1738-1740)ttC>ttT p.F580F TIE1_ENST00000433781.2_Silent_p.F225F NM_001253357.1|NM_005424.4 NP_001240286.1|NP_005415.1 P35590 TIE1_HUMAN tyrosine kinase with immunoglobulin-like and EGF-like domains 1 580 Fibronectin type-III 2. mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 70 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) GCGACGGTTTCCTGCTGCGCC 0.701000 11 62 0 0 0.000978159 0 0 PRTN3 5657 broad.mit.edu 37 19 843590 843590 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr19:843590G>A ENST00000544537.2 + 1 250 c.68G>A c.(67-69)aGc>aAc p.S23N PRTN3_ENST00000234347.5_Missense_Mutation_p.S64N P24158 PRTN3_HUMAN proteinase 3 64 collagen catabolic process|positive regulation of cell proliferation|proteolysis protein binding|serine-type endopeptidase activity lung(1)|ovary(2)|urinary_tract(1) 4 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228) 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) ATCCACCCCAGCTTCGTGCTG 0.731000 4 14 0 0 0.00024832 0 0 PCDHA5 56143 broad.mit.edu 37 5 140203153 140203153 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr5:140203153C>T ENST00000529859.1 + 1 1793 c.1793C>T c.(1792-1794)cCt>cTt p.P598L PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.P598L|PCDHA5_ENST00000378126.3_Missense_Mutation_p.P598L NM_018908.2 NP_061731.1 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCAGTGGACCCTGATTCGGGC 0.682000 8 67 0 0 0.000442599 0 0 DIS3L2 129563 broad.mit.edu 37 2 232952409 232952409 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr2:232952409C>T ENST00000325385.7 + 6 855 c.579C>T c.(577-579)ctC>ctT p.L193L DIS3L2_ENST00000409307.1_Silent_p.L193L|DIS3L2_ENST00000360410.4_Silent_p.L193L|DIS3L2_ENST00000273009.6_Silent_p.L193L|DIS3L2_ENST00000409401.3_Silent_p.L193L|DIS3L2_ENST00000470087.1_3'UTR NM_152383.4 NP_689596.4 Q8IYB7 DI3L2_HUMAN DIS3 mitotic control homolog (S. cerevisiae)-like 2 193 exonuclease activity|ribonuclease activity|RNA binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1) 40 all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136) Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149) TTAAGAAACTCTCAGTTTGTG 0.403000 5 34 0 0 0.000602214 0 0 NLRP10 338322 broad.mit.edu 37 11 7981217 7981217 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr11:7981217C>T ENST00000328600.2 - 2 2103 c.1942G>A c.(1942-1944)Gaa>Aaa p.E648K NM_176821.3 NP_789791.1 Q86W26 NAL10_HUMAN NLR family, pyrin domain containing 10 648 ATP binding breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) TTTGGTGTTTCCTCTGTCCCT 0.378000 8 38 0 0 0.000274275 0 0 ADHFE1 137872 broad.mit.edu 37 8 67356917 67356917 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr8:67356917C>T ENST00000396623.3 + 5 318 c.287C>T c.(286-288)tCc>tTc p.S96F ADHFE1_ENST00000379385.4_Missense_Mutation_p.S96F|ADHFE1_ENST00000415254.1_Missense_Mutation_p.S48F|ADHFE1_ENST00000496501.1_3'UTR NM_144650.2 NP_653251.2 Q8IWW8 HOT_HUMAN alcohol dehydrogenase, iron containing, 1 96 2-oxoglutarate metabolic process|molecular hydrogen transport mitochondrial matrix hydroxyacid-oxoacid transhydrogenase activity|metal ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2) 29 Lung NSC(129;0.197) Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226) GCTATGGATTCCCTAGTGAAG 0.403000 24 175 0 0 0.00178596 0 0 USP7 7874 broad.mit.edu 37 16 9000299 9000299 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr16:9000299G>A ENST00000344836.4 - 13 1610 c.1412C>T c.(1411-1413)cCc>cTc p.P471L USP7_ENST00000535863.1_Missense_Mutation_p.P372L|USP7_ENST00000381886.4_Missense_Mutation_p.P455L NM_003470.2 NP_003461.2 Q93009 UBP7_HUMAN ubiquitin specific peptidase 7 (herpes virus-associated) 471 interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process cytoplasm|PML body cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 48 ATCCCCTTTGGGGTTTAGATA 0.448000 20 88 0 0 0.00278032 0 0 C10orf120 399814 broad.mit.edu 37 10 124459184 124459184 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr10:124459184C>T ENST00000329446.4 - 1 154 c.123G>A c.(121-123)caG>caA p.Q41Q NM_001010912.1 NP_001010912.1 Q5SQS8 CJ120_HUMAN chromosome 10 open reading frame 120 41 endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1) 21 all_neural(114;0.169)|Glioma(114;0.222) GGGCTTGATCCTGAAAGGAAG 0.448000 6 43 0 0 0.00116845 0 0 ZNF560 147741 broad.mit.edu 37 19 9577806 9577806 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr19:9577806C>T ENST00000301480.4 - 10 2030 c.1817G>A c.(1816-1818)gGa>gAa p.G606E NM_152476.2 NP_689689.2 Q96MR9 ZN560_HUMAN zinc finger protein 560 606 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 65 GAAGGCTTTTCCACATTTCTT 0.408000 14 74 0 0 0.000308642 0 0 OR5D14 219436 broad.mit.edu 37 11 55563262 55563262 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr11:55563262C>T ENST00000335605.1 + 1 231 c.231C>T c.(229-231)tcC>tcT p.S77S NM_001004735.1 NP_001004735.1 Q8NGL3 OR5DE_HUMAN olfactory receptor, family 5, subfamily D, member 14 77 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1) 48 all_epithelial(135;0.196) GTTACTCTTCCATTGTCACTC 0.403000 7 28 0 0 0.00198382 0 0 FCRLA 84824 broad.mit.edu 37 1 161681928 161681928 + Missense_Mutation SNP C C A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:161681928C>A ENST00000540926.1 + 5 1015 c.722C>A c.(721-723)tCc>tAc p.S241Y FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000350710.3_Intron|FCRLA_ENST00000309691.6_Missense_Mutation_p.S146Y|FCRLA_ENST00000294796.4_Missense_Mutation_p.S101Y|FCRLA_ENST00000236938.6_Missense_Mutation_p.S252Y|FCRLA_ENST00000546024.1_Missense_Mutation_p.S163Y|FCRLA_ENST00000540521.1_Missense_Mutation_p.S118Y|FCRLA_ENST00000367949.2_Intron|FCRLA_ENST00000367950.1_Intron|FCRLA_ENST00000367953.3_Missense_Mutation_p.S241Y|FCRLA_ENST00000367957.2_Missense_Mutation_p.S112Y|FCRLA_ENST00000367959.2_Missense_Mutation_p.S258Y|FCRLA_ENST00000349527.4_Intron Q7L513 FCRLA_HUMAN Fc receptor-like A 235 Ig-like C2-type 2. cell differentiation cytoplasm|extracellular region breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1) 34 all_cancers(52;2.55e-15)|all_hematologic(112;0.0359) BRCA - Breast invasive adenocarcinoma(70;0.00301) GAAGATCACTCCGGGTCATAC 0.552000 12 65 9.31168e-06 3.65441e-05 0.00185496 1 0 PPFIA2 8499 broad.mit.edu 37 12 81741331 81741331 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr12:81741331C>T ENST00000550584.2 - 17 2508 c.2213G>A c.(2212-2214)cGg>cAg p.R738Q PPFIA2_ENST00000550359.2_Missense_Mutation_p.R585Q|PPFIA2_ENST00000549396.1_Missense_Mutation_p.R738Q|PPFIA2_ENST00000548586.1_Missense_Mutation_p.R738Q|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000407050.4_Missense_Mutation_p.R664Q|PPFIA2_ENST00000333447.7_Missense_Mutation_p.R720Q|PPFIA2_ENST00000541570.2_Missense_Mutation_p.R305Q|PPFIA2_ENST00000443686.3_Missense_Mutation_p.R639Q|PPFIA2_ENST00000552948.1_Missense_Mutation_p.R738Q|PPFIA2_ENST00000549325.1_Missense_Mutation_p.R720Q|PPFIA2_ENST00000541017.1_Intron NM_001220473.1 NP_001207402.1 B7Z663 B7Z663_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 664 NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5) 85 GACTCCCATCCGATCCATTTC 0.498000 17 82 0 0 0.000566183 0 0 MGAM 8972 broad.mit.edu 37 7 141758086 141758086 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr7:141758086C>T ENST00000475668.2 + 31 3831 c.3777C>T c.(3775-3777)atC>atT p.I1259I MGAM_ENST00000549489.2_Silent_p.I1259I O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1259 Glucoamylase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) ACTCTGAGATCGCCAGCTTGT 0.498000 148 312 0 0 0.000781405 0 0 TMPRSS7 344805 broad.mit.edu 37 3 111795743 111795743 + Nonsense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr3:111795743G>A ENST00000452346.2 + 16 1979 c.1976G>A c.(1975-1977)tGg>tAg p.W659* TMPRSS7_ENST00000419127.1_Nonsense_Mutation_p.W533* Q7RTY8 TMPS7_HUMAN transmembrane protease, serine 7 659 Peptidase S1. proteolysis integral to membrane|plasma membrane serine-type endopeptidase activity breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 CCCACACCATGGACTGCACAC 0.438000 27 140 0 0 0.000720815 0 0 DNAH11 8701 broad.mit.edu 37 7 21723549 21723549 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr7:21723549C>T ENST00000328843.6 + 33 5660 c.5629C>T c.(5629-5631)Cct>Tct p.P1877S DNAH11_ENST00000409508.3_Missense_Mutation_p.P1870S Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 1877 AAA 1 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 AGTGATCACTCCTCTAACTGA 0.413000 Kartagener syndrome 9 61 0 0 0.000442599 0 0 ACTR3B 57180 broad.mit.edu 37 7 152497740 152497740 + Splice_Site SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr7:152497740G>A ENST00000256001.8 + 3 359 c.225_splice c.e3+1 p.K75_splice ACTR3B_ENST00000488782.1_3'UTR|ACTR3B_ENST00000537264.1_Intron|ACTR3B_ENST00000397282.2_5'UTR|ACTR3B_ENST00000377776.3_Splice_Site_p.K75_splice NM_020445.5 NP_065178.1 Q9P1U1 ARP3B_HUMAN ARP3 actin-related protein 3 homolog B (yeast) 75 regulation of actin filament polymerization cell projection|cytoplasm|cytoskeleton actin binding|ATP binding breast(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1) 13 all_hematologic(28;0.0592)|Prostate(32;0.191) OV - Ovarian serous cystadenocarcinoma(82;0.0287) UCEC - Uterine corpus endometrioid carcinoma (81;0.0434) ATGCTACAAAGGTAAATTTCC 0.403000 11 79 0 0 0.000978159 0 0 ITGB4 3691 broad.mit.edu 37 17 73727378 73727378 + Missense_Mutation SNP C C T rs141337579 by1000genomes TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr17:73727378C>T ENST00000200181.3 + 10 1331 c.1144C>T c.(1144-1146)Cgg>Tgg p.R382W ITGB4_ENST00000449880.2_Missense_Mutation_p.R382W|ITGB4_ENST00000339591.3_Missense_Mutation_p.R382W|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000450894.3_Missense_Mutation_p.R382W|ITGB4_ENST00000579662.1_Missense_Mutation_p.R382W NM_000213.3 NP_000204.3 P16144 ITB4_HUMAN integrin, beta 4 382 cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1) 43 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) CCGAGGCCTTCGGACAGAGGT 0.637000 9 73 0 0 0.000274275 0 0 CRB1 23418 broad.mit.edu 37 1 197396610 197396610 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:197396610G>A ENST00000367397.1 + 3 1156 c.298G>A c.(298-300)Gat>Aat p.D100N CRB1_ENST00000367400.3_Missense_Mutation_p.D719N|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000543483.1_3'UTR|CRB1_ENST00000544212.1_Missense_Mutation_p.D200N|CRB1_ENST00000535699.1_Missense_Mutation_p.D650N|CRB1_ENST00000367399.2_Missense_Mutation_p.D607N P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 719 EGF-like 2. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 ATTTGGCCAGGATGACTCCAC 0.438000 7 39 0 0 0.000157383 0 0 GPR98 84059 broad.mit.edu 37 5 89938477 89938477 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr5:89938477G>A ENST00000405460.2 + 12 2361 c.2265G>A c.(2263-2265)ctG>ctA p.L755L NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 755 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) ACCAAGTGCTGAAATCTGGAT 0.413000 11 81 0 0 0.00185496 0 0 DMTN 2039 broad.mit.edu 37 8 21931340 21931340 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr8:21931340C>T ENST00000358242.3 + 10 1322 c.829C>T c.(829-831)Cat>Tat p.H277Y DMTN_ENST00000519907.1_Missense_Mutation_p.H277Y|DMTN_ENST00000265800.5_Missense_Mutation_p.H277Y|DMTN_ENST00000517600.1_Missense_Mutation_p.H237Y|DMTN_ENST00000523782.2_Missense_Mutation_p.H252Y|DMTN_ENST00000523266.1_Missense_Mutation_p.H277Y|DMTN_ENST00000443491.2_Missense_Mutation_p.H252Y|DMTN_ENST00000381470.3_Missense_Mutation_p.H277Y|DMTN_ENST00000432128.1_Missense_Mutation_p.H277Y|DMTN_ENST00000415253.1_Missense_Mutation_p.H277Y dematin actin binding protein GACACCCTTCCATACCTGTGA 0.517000 6 49 0 0 0.00116845 0 0 RANBP3 8498 broad.mit.edu 37 19 5931539 5931539 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr19:5931539G>A ENST00000340578.6 - 8 626 c.569C>T c.(568-570)cCc>cTc p.P190L RANBP3_ENST00000439268.2_Missense_Mutation_p.P190L|RANBP3_ENST00000034275.8_Missense_Mutation_p.P122L|RANBP3_ENST00000541471.1_Missense_Mutation_p.P62L|RANBP3_ENST00000591092.1_Missense_Mutation_p.P122L NM_003624.2|NM_007320.2|NM_007322.2 NP_003615.2|NP_015559.2|NP_015561.1 Q9H6Z4 RANB3_HUMAN RAN binding protein 3 190 intracellular transport|protein transport cytoplasm|nucleus Ran GTPase binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1) 18 GCCACTGCTGGGGACTGTGGG 0.652000 12 60 0 0 0.00185496 0 0 KCNU1 157855 broad.mit.edu 37 8 36793060 36793060 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr8:36793060G>A ENST00000399881.3 + 27 3109 c.3072G>A c.(3070-3072)gaG>gaA p.E1024E NM_001031836.2 NP_001027006.2 A8MYU2 KCNU1_HUMAN potassium channel, subfamily U, member 1 1024 voltage-gated potassium channel complex binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1) 57 KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634) CAGCCAATGAGTTCAAGCTGC 0.448000 5 42 0 0 0.00116845 0 0 SUCO 51430 broad.mit.edu 37 1 172501635 172501635 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:172501635C>T ENST00000367723.3 + 1 147 c.23C>T c.(22-24)cCc>cTc p.P8L NM_016227.2 NP_057311.2 SUN domain containing ossification factor TTGGCACGCCCCTTTCTATCT 0.502000 6 25 0 0 0.00198382 0 0 CYP2R1 120227 broad.mit.edu 37 11 14902178 14902178 + Silent SNP A A T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr11:14902178A>T ENST00000334636.5 - 3 550 c.504T>A c.(502-504)gcT>gcA p.A168A CYP2R1_ENST00000532378.1_Intron|CYP2R1_ENST00000526489.1_5'UTR NM_024514.4 NP_078790.2 Q6VVX0 CP2R1_HUMAN cytochrome P450, family 2, subfamily R, polypeptide 1 168 hormone biosynthetic process|vitamin D metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding|vitamin D3 25-hydroxylase activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Cholecalciferol(DB00169)|Ergocalciferol(DB00153) ATGTTTCAATAGCATCATTGA 0.313000 3 10 0 0 6.4e-05 0 0 SH2B1 25970 broad.mit.edu 37 16 28883220 28883220 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr16:28883220C>T ENST00000337120.5 + 5 4720 c.1429C>T c.(1429-1431)Ccc>Tcc p.P477S SH2B1_ENST00000395532.4_Missense_Mutation_p.P477S|SH2B1_ENST00000322610.8_Missense_Mutation_p.P477S|SH2B1_ENST00000545570.1_Missense_Mutation_p.P167S|SH2B1_ENST00000538342.1_Missense_Mutation_p.P141S|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000359285.5_Missense_Mutation_p.P477S NM_001145812.1|NM_015503.2 NP_001139284.1|NP_056318.2 Q9NRF2 SH2B1_HUMAN SH2B adaptor protein 1 477 Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity). blood coagulation|intracellular signal transduction cytosol|membrane|nucleus signal transducer activity endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 CCCCCGCATCCCCATTGAAGA 0.627000 10 44 0 0 0.000673444 0 0 ZNRF3 84133 broad.mit.edu 37 22 29446055 29446055 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr22:29446055C>T ENST00000544604.2 + 8 2061 c.1886C>T c.(1885-1887)cCt>cTt p.P629L ZNRF3_ENST00000402174.1_Missense_Mutation_p.P529L|ZNRF3_ENST00000406323.3_Missense_Mutation_p.P529L|ZNRF3_ENST00000332811.4_Missense_Mutation_p.P529L NM_001206998.1 NP_001193927.1 Q9ULT6 ZNRF3_HUMAN zinc and ring finger 3 629 integral to membrane zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 28 GGCTCCCCGCCTCCCGAGGAG 0.741000 7 56 0 0 0.000157383 0 0 UBR4 23352 broad.mit.edu 37 1 19465712 19465712 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:19465712G>A ENST00000375267.2 - 59 8599 c.8596C>T c.(8596-8598)Cca>Tca p.P2866S UBR4_ENST00000375217.2_Missense_Mutation_p.P2859S|UBR4_ENST00000375254.3_Missense_Mutation_p.P2866S|UBR4_ENST00000375226.2_Missense_Mutation_p.P2842S Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 2866 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) TCTGAGGCTGGAGCTGAGAGA 0.498000 10 47 0 0 0.000673444 0 0 B4GALNT1 2583 broad.mit.edu 37 12 58024844 58024844 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr12:58024844G>A ENST00000341156.4 - 4 993 c.409C>T c.(409-411)Ctc>Ttc p.L137F B4GALNT1_ENST00000449184.3_Missense_Mutation_p.L137F|B4GALNT1_ENST00000552350.1_Missense_Mutation_p.L137F|B4GALNT1_ENST00000418555.2_Missense_Mutation_p.L82F|B4GALNT1_ENST00000550764.1_Missense_Mutation_p.L137F NM_001478.3 NP_001469.1 Q00973 B4GN1_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 1 137 lipid glycosylation integral to Golgi membrane|membrane fraction (N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1) 20 Melanoma(17;0.122) BRCA - Breast invasive adenocarcinoma(9;0.109) GGGGCTATGAGCAGCTGGTCA 0.642000 13 55 0 0 0.00136819 0 0 ITPR1 3708 broad.mit.edu 37 3 4808225 4808225 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr3:4808225C>T ENST00000302640.8 + 44 5861 c.5511C>T c.(5509-5511)ttC>ttT p.F1837F ITPR1_ENST00000423119.2_Silent_p.F1804F|ITPR1_ENST00000354582.6_Silent_p.F1837F|ITPR1_ENST00000357086.4_Silent_p.F1804F|ITPR1_ENST00000443694.2_Silent_p.F1837F|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000456211.2_Silent_p.F1789F NM_001168272.1 NP_001161744.1 Q14643 ITPR1_HUMAN inositol 1,4,5-trisphosphate receptor, type 1 1852 activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2) 106 Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982) ACTCCTTTTTCTGTCGCTTGA 0.423000 14 58 0 0 0.000308642 0 0 SLC12A5 57468 broad.mit.edu 37 20 44672273 44672273 + Splice_Site SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr20:44672273G>A ENST00000454036.1 + 10 1384 c.1306_splice c.e10-1 p.G436_splice SLC12A5_ENST00000243964.3_Splice_Site_p.G413_splice|SLC12A5_ENST00000539566.1_Intron NM_001134771.1 NP_001128243.1 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium/chloride transporter), member 5 436 potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 80 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) GTTTTGCAGGGATCATGGCTG 0.572000 13 78 0 0 0.00185496 0 0 KRT84 3890 broad.mit.edu 37 12 52778976 52778976 + Missense_Mutation SNP G G A rs140458726 TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr12:52778976G>A ENST00000257951.3 - 1 460 c.394C>T c.(394-396)Cca>Tca p.P132S RP3-416H24.4_ENST00000547174.1_RNA NM_033045.3 NP_149034.2 Q9NSB2 KRT84_HUMAN keratin 84 132 Head. keratin filament structural constituent of epidermis p.P132S(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3) 27 all_hematologic(5;0.12) BRCA - Breast invasive adenocarcinoma(357;0.189) GGGGCTGCTGGGACTCCAACC 0.567000 30 143 0 0 0.00178596 0 0 OR10T2 128360 broad.mit.edu 37 1 158369106 158369106 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:158369106G>A ENST00000334438.1 - 1 150 c.151C>T c.(151-153)Cgc>Tgc p.R51C NM_001004475.1 NP_001004475.1 Q8NGX3 O10T2_HUMAN olfactory receptor, family 10, subfamily T, member 2 51 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 all_hematologic(112;0.0378) CAGCTGAAGCGAATAACGGCC 0.483000 6 30 0 0 0.00116845 0 0 EQTN 54586 broad.mit.edu 37 9 27291062 27291062 + Splice_Site SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr9:27291062C>T ENST00000380032.3 - 5 460 c.e5-1 EQTN_ENST00000537675.1_Splice_Site NM_020641.2 NP_065692.2 equatorin, sperm acrosome associated GGGGTTGATCCTGTTaaaaca 0.338000 6 21 0 0 0.00116845 0 0 NALCN 259232 broad.mit.edu 37 13 101763545 101763545 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr13:101763545G>A ENST00000251127.6 - 19 2306 c.2225C>T c.(2224-2226)tCa>tTa p.S742L NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 742 integral to membrane sodium channel activity|voltage-gated ion channel activity NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) CCCCTCAAATGATCCGCTCAG 0.493000 12 59 0 0 0.00136819 0 0 DNAH2 146754 broad.mit.edu 37 17 7696092 7696092 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr17:7696092G>A ENST00000572933.1 + 47 8723 c.7263G>A c.(7261-7263)ggG>ggA p.G2421G DNAH2_ENST00000389173.2_Silent_p.G2421G Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 2421 AAA 3 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) TGGGGACTGGGAAGACCTCCA 0.617000 6 34 0 0 0.00198382 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37451751 37451751 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr10:37451751G>A ENST00000374660.1 + 17 1908 c.1809G>A c.(1807-1809)ttG>ttA p.L603L ANKRD30A_ENST00000602533.1_Silent_p.L603L|ANKRD30A_ENST00000361713.1_Silent_p.L603L Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 659 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 CCTTGGAATTGAAAAATGAAC 0.328000 16 99 0 0 0.00074312 0 0 CDC42BPG 55561 broad.mit.edu 37 11 64593978 64593978 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr11:64593978G>A ENST00000342711.5 - 36 4562 c.4563C>T c.(4561-4563)ccC>ccT p.P1521P NM_017525.2 NP_059995.2 Q6DT37 MRCKG_HUMAN CDC42 binding protein kinase gamma (DMPK-like) 1521 actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|centrosome ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity central_nervous_system(1)|lung(3) 4 GCGATCCCTGGGGGCAGGACA 0.562000 3 12 0 0 6.4e-05 0 0 PBX1 5087 broad.mit.edu 37 1 164761910 164761910 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:164761910G>A ENST00000420696.2 + 3 633 c.445G>A c.(445-447)Gat>Aat p.D149N PBX1_ENST00000560641.1_Missense_Mutation_p.D44N|PBX1_ENST00000559240.1_Missense_Mutation_p.D149N|PBX1_ENST00000401534.1_Missense_Mutation_p.D149N|PBX1_ENST00000367897.1_Missense_Mutation_p.D149N|PBX1_ENST00000540246.1_Missense_Mutation_p.D44N|PBX1_ENST00000540236.1_Missense_Mutation_p.D149N NM_001204961.1|NM_001204963.1|NM_002585.3 NP_001191890.1|NP_001191892.1|NP_002576.1 P40424 PBX1_HUMAN pre-B-cell leukemia homeobox 1 149 negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription factor binding EWSR1/PBX1(3) large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 4 GGAGCATTCAGATTACAGAGC 0.622000 T """TCF3, EWSR1""" """pre B-ALL, myoepithelioma""" 19 84 0 0 0.00121646 0 0 GPR18 2841 broad.mit.edu 37 13 99907258 99907258 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr13:99907258G>A ENST00000340807.3 - 3 1425 c.869C>T c.(868-870)tCa>tTa p.S290L GPR18_ENST00000397473.2_Missense_Mutation_p.S290L|GPR18_ENST00000397470.2_Missense_Mutation_p.S290L|UBAC2_ENST00000403766.3_Intron|UBAC2_ENST00000376440.2_Intron Q14330 GPR18_HUMAN G protein-coupled receptor 18 290 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(2)|large_intestine(2)|lung(6) 10 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Glycine(DB00145) AAATTGTTTTGAAACGATGTA 0.468000 14 63 0 0 0.00244969 0 0 TRAK2 66008 broad.mit.edu 37 2 202248842 202248842 + Silent SNP A A C TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr2:202248842A>C ENST00000332624.3 - 15 2489 c.2061T>G c.(2059-2061)gtT>gtG p.V687V NM_015049.2 NP_055864.2 O60296 TRAK2_HUMAN trafficking protein, kinesin binding 2 687 Missing (in Ref. 2). early endosome|plasma membrane GABA receptor binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1) 23 ACCTGGGGGTAACCTGAGTGA 0.428000 6 36 0 0 0.00116845 0 0 ZBTB7C 201501 broad.mit.edu 37 18 45566752 45566752 + Missense_Mutation SNP C C T rs141368497 TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr18:45566752C>T ENST00000588982.1 - 3 1228 c.727G>A c.(727-729)Gac>Aac p.D243N ZBTB7C_ENST00000586438.1_Missense_Mutation_p.D243N|ZBTB7C_ENST00000332053.2_Missense_Mutation_p.D243N|ZBTB7C_ENST00000535628.2_Missense_Mutation_p.D243N|ZBTB7C_ENST00000590800.1_Missense_Mutation_p.D243N A1YPR0 ZBT7C_HUMAN zinc finger and BTB domain containing 7C 243 intracellular nucleic acid binding|zinc ion binding endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 GGTCTCCTGTCGGGGATGTTG 0.612000 9 26 0 0 0.000442599 0 0 PRAMEF2 65122 broad.mit.edu 37 1 12921158 12921158 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:12921158C>T ENST00000240189.2 + 4 1036 c.949C>T c.(949-951)Cca>Tca p.P317S NM_023014.1 NP_075390.1 O60811 PRAM2_HUMAN PRAME family member 2 317 breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4) 42 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CTCCCAGTTCCCAAGCCTCGG 0.493000 29 212 0 0 0.00106085 0 0 MYBPC3 4607 broad.mit.edu 37 11 47360879 47360879 + Missense_Mutation SNP T T G TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr11:47360879T>G ENST00000545968.1 - 22 2198 c.2144A>C c.(2143-2145)aAg>aCg p.K715T MYBPC3_ENST00000399249.2_Missense_Mutation_p.K715T|MYBPC3_ENST00000256993.4_Missense_Mutation_p.K714T NM_000256.3 NP_000247.2 Q14896 MYPC3_HUMAN myosin binding protein C, cardiac 714 Ig-like C2-type 5. cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis C zone|cytosol|striated muscle myosin thick filament actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2) 42 Lung(87;0.176) ACTCACCTTCTTGTCAAACAC 0.592000 16 161 0 0 0.000958276 0 0 UGT3A2 167127 broad.mit.edu 37 5 36049314 36049314 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr5:36049314C>T ENST00000282507.3 - 4 621 c.520G>A c.(520-522)Gaa>Aaa p.E174K UGT3A2_ENST00000545528.1_Intron|UGT3A2_ENST00000504954.1_Intron|UGT3A2_ENST00000513300.1_Missense_Mutation_p.E140K NM_174914.3 NP_777574.2 Q3SY77 UD3A2_HUMAN UDP glycosyltransferase 3 family, polypeptide A2 174 integral to membrane glucuronosyltransferase activity NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 43 all_lung(31;0.000179) Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) AGCCCAAATTCCAAAGAGCCG 0.448000 4 37 0 0 0.00024832 0 0 STXBP5L 9515 broad.mit.edu 37 3 120976026 120976026 + Nonsense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr3:120976026C>T ENST00000273666.6 + 17 1949 c.1678C>T c.(1678-1680)Cag>Tag p.Q560* STXBP5L_ENST00000471454.1_Nonsense_Mutation_p.Q560*|STXBP5L_ENST00000492541.1_Nonsense_Mutation_p.Q560*|STXBP5L_ENST00000472879.1_Nonsense_Mutation_p.Q560*|STXBP5L_ENST00000497029.1_Nonsense_Mutation_p.Q560* NM_014980.2 NP_055795.1 Q9Y2K9 STB5L_HUMAN syntaxin binding protein 5-like 560 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) GGTACGACTTCAGTATGATGT 0.333000 6 63 0 0 0.00116845 0 0 SLC2A10 81031 broad.mit.edu 37 20 45354696 45354696 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr20:45354696C>T ENST00000359271.2 + 2 1271 c.1021C>T c.(1021-1023)Ctc>Ttc p.L341F NM_030777.3 NP_110404.1 O95528 GTR10_HUMAN solute carrier family 2 (facilitated glucose transporter), member 10 341 endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 34 Myeloproliferative disorder(115;0.0122) GCAGACAGGCCTCCCTGGAGA 0.602000 10 63 0 0 0.000673444 0 0 AHCTF1 25909 broad.mit.edu 37 1 247013051 247013051 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:247013051G>A ENST00000366508.1 - 33 6498 c.6362C>T c.(6361-6363)gCc>gTc p.A2121V AHCTF1_ENST00000326225.3_Missense_Mutation_p.A2095V|AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000391829.2_Missense_Mutation_p.A2086V Q8WYP5 ELYS_HUMAN AT hook containing transcription factor 1 2086 Necessary for nuclear localization (By similarity). cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm DNA binding NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 74 all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) GGAAGCTGTGGCGAGCAATCT 0.443000 10 63 0 0 0.000673444 0 0 ADAMTS7 11173 broad.mit.edu 37 15 79059752 79059752 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr15:79059752G>A ENST00000388820.4 - 18 3038 c.2828C>T c.(2827-2829)cCg>cTg p.P943L ADAMTS7_ENST00000566303.1_Intron NM_014272.3 NP_055087.2 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 7 943 TSP type-1 4. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9) 54 CCAGGTGGCCGGACAGGGTAC 0.657000 5 26 0 0 0.000602214 0 0 WNK3 65267 broad.mit.edu 37 X 54359611 54359611 + Missense_Mutation SNP C C A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chrX:54359611C>A ENST00000354646.2 - 2 934 c.496G>T c.(496-498)Gac>Tac p.D166Y WNK3_ENST00000375159.2_Missense_Mutation_p.D166Y|WNK3_ENST00000375169.3_Missense_Mutation_p.D166Y NM_020922.4 NP_065973.2 Q9BYP7 WNK3_HUMAN WNK lysine deficient protein kinase 3 166 Protein kinase. intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation adherens junction|tight junction ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 GTTTCAGTGTCCAGTCCTTTA 0.408000 16 35 2.94398e-08 1.16192e-07 0.000958276 1 0 OR1M1 125963 broad.mit.edu 37 19 9204418 9204418 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr19:9204418C>T ENST00000429566.3 + 1 564 c.498C>T c.(496-498)ctC>ctT p.L166L NM_001004456.1 NP_001004456.1 Q8NGA1 OR1M1_HUMAN olfactory receptor, family 1, subfamily M, member 1 166 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 TGGCCCGTCTCGTTTTCTGCG 0.577000 23 115 0 0 0.000720815 0 0 ACACB 32 broad.mit.edu 37 12 109629452 109629452 + Nonsense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr12:109629452C>T ENST00000338432.7 + 14 2298 c.2179C>T c.(2179-2181)Cga>Tga p.R727* ACACB_ENST00000377854.5_Nonsense_Mutation_p.R727*|ACACB_ENST00000377848.3_Nonsense_Mutation_p.R727* O00763 ACACB_HUMAN acetyl-CoA carboxylase beta 727 Biotin carboxylation. acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding p.R727R(1) NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 Biotin(DB00121) ACTGTCCATCCGAGGCGACTT 0.488000 14 100 0 0 0.000422831 0 0 ANK2 287 broad.mit.edu 37 4 114117612 114117612 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr4:114117612C>T ENST00000357077.4 + 3 328 c.275C>T c.(274-276)tCt>tTt p.S92F ANK2_ENST00000394537.3_Missense_Mutation_p.S92F|ANK2_ENST00000264366.6_Missense_Mutation_p.S92F|ANK2_ENST00000506722.1_Missense_Mutation_p.S71F NM_001148.4 NP_001139.3 Q01484 ANK2_HUMAN ankyrin 2, neuronal 92 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10) 248 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) TCTGTGGATTCTGCCACTAAG 0.423000 9 32 0 0 0.000442599 0 0 PRDM9 56979 broad.mit.edu 37 5 23527651 23527651 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr5:23527651C>T ENST00000296682.3 + 11 2636 c.2454C>T c.(2452-2454)caC>caT p.H818H NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 818 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 ATAAGTCACACCTCCTCAGAC 0.552000 HNSCC(3;0.000094) 8 91 0 0 0.00185496 0 0 MIR1275 100302123 broad.mit.edu 37 6 33967763 33967763 + RNA SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr6:33967763G>A ENST00000408770.1 - 0 65 NR_031681.1 TCTGCCTTGGGGAAAATAAGT 0.512000 8 59 0 0 0.000274275 0 0 SDR42E1 93517 broad.mit.edu 37 16 82032901 82032901 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr16:82032901C>T ENST00000328945.5 - 3 1124 c.997G>A c.(997-999)Gag>Aag p.E333K NM_145168.2 NP_660151.2 Q8WUS8 D42E1_HUMAN short chain dehydrogenase/reductase family 42E, member 1 333 steroid biosynthetic process integral to membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding NS(2)|endometrium(1)|lung(4)|skin(3) 10 TAACCTAGCTCTTTCTTGGCT 0.463000 12 110 0 0 0.00136819 0 0 OR4M1 441670 broad.mit.edu 37 14 20249284 20249284 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr14:20249284C>T ENST00000315957.4 + 1 884 c.803C>T c.(802-804)tCc>tTc p.S268F NM_001005500.1 NP_001005500.1 Q8NGD0 OR4M1_HUMAN olfactory receptor, family 4, subfamily M, member 1 268 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S268F(1) NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2) 42 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) GACTCATTTTCCCTAGATAAA 0.418000 7 53 0 0 0.000274275 0 0 TACC2 10579 broad.mit.edu 37 10 123847380 123847380 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr10:123847380G>A ENST00000369005.1 + 4 5705 c.5365G>A c.(5365-5367)Gat>Aat p.D1789N TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.D1789N|TACC2_ENST00000334433.3_Missense_Mutation_p.D1789N|TACC2_ENST00000453444.2_Missense_Mutation_p.D1789N|TACC2_ENST00000515273.1_Missense_Mutation_p.D1789N|TACC2_ENST00000513429.1_Intron NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 1789 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) TCCAGCTGGGGATGGGAAGGT 0.622000 10 28 0 0 0.00185496 0 0 ZNF613 79898 broad.mit.edu 37 19 52447895 52447895 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr19:52447895C>T ENST00000293471.6 + 6 1438 c.759C>T c.(757-759)aaC>aaT p.N253N ZNF613_ENST00000391794.4_Silent_p.N217N NM_001031721.3 NP_001026891.2 Q6PF04 ZN613_HUMAN zinc finger protein 613 253 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 19 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183) ACCAGAGAAACCACACAGGAG 0.463000 11 86 0 0 0.000978159 0 0 TTC3 7267 broad.mit.edu 37 21 38524315 38524315 + Missense_Mutation SNP A A T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr21:38524315A>T ENST00000399017.2 + 26 5146 c.2399A>T c.(2398-2400)aAt>aTt p.N800I TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000354749.2_Missense_Mutation_p.N800I|TTC3_ENST00000355666.1_Missense_Mutation_p.N800I|TTC3_ENST00000540756.1_Missense_Mutation_p.N490I NM_003316.3 NP_003307.3 P53804 TTC3_HUMAN tetratricopeptide repeat domain 3 800 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) CCACCCAAAAATGAAGAGCAG 0.328000 23 95 0 0 0.00278032 0 0 AKAP6 9472 broad.mit.edu 37 14 33015010 33015010 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr14:33015010C>T ENST00000280979.4 + 4 1321 c.1151C>T c.(1150-1152)cCc>cTc p.P384L AKAP6_ENST00000557354.1_Missense_Mutation_p.P384L|AKAP6_ENST00000557272.1_Missense_Mutation_p.P384L NM_004274.4 NP_004265.3 Q13023 AKAP6_HUMAN A kinase (PRKA) anchor protein 6 384 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2) 122 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) GAGGACTCTCCCACGCAGCCT 0.418000 10 43 0 0 0.000673444 0 0 ZDHHC8 29801 broad.mit.edu 37 22 20128403 20128403 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr22:20128403G>A ENST00000334554.7 + 7 903 c.762G>A c.(760-762)gtG>gtA p.V254V ZDHHC8_ENST00000468112.1_3'UTR|ZDHHC8_ENST00000320602.7_Silent_p.V162V|ZDHHC8_ENST00000405930.3_Silent_p.V254V NM_013373.3 NP_037505.1 Q9ULC8 ZDHC8_HUMAN zinc finger, DHHC-type containing 8 254 cytoplasmic vesicle membrane|integral to membrane acyltransferase activity|zinc ion binding breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1) 20 Colorectal(54;0.0993) GGTACGTGGTGGAGCCACCCC 0.627000 11 51 0 0 0.00136819 0 0 DGKG 1608 broad.mit.edu 37 3 185993421 185993421 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr3:185993421G>A ENST00000265022.3 - 10 1364 c.825C>T c.(823-825)acC>acT p.T275T DGKG_ENST00000382164.4_Silent_p.T275T|DGKG_ENST00000344484.4_Silent_p.T275T|DGKG_ENST00000544847.1_Silent_p.T275T NM_001080744.1|NM_001080745.1|NM_001346.2 NP_001074213.1|NP_001074214.1|NP_001337.2 P49619 DGKG_HUMAN diacylglycerol kinase, gamma 90kDa 275 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation cytoplasm|plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 42 all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) GBM - Glioblastoma multiforme(93;0.0657) Phosphatidylserine(DB00144) AGTGCTTCATGGTCCAGGCGT 0.577000 7 48 0 0 0.000274275 0 0 IFNA7 3444 broad.mit.edu 37 9 21201839 21201839 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr9:21201839G>A ENST00000239347.3 - 1 365 c.326C>T c.(325-327)tCc>tTc p.S109F NM_021057.2 NP_066401.2 P01567 IFNA7_HUMAN interferon, alpha 7 109 blood coagulation|cell-cell signaling|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(6) 12 GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) AAGTTCAGTGGAAAATTTTTC 0.493000 17 79 0 0 0.000566183 0 0 SVEP1 79987 broad.mit.edu 37 9 113169844 113169844 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr9:113169844G>A ENST00000401783.2 - 38 8372 c.8036C>T c.(8035-8037)aCc>aTc p.T2679I SVEP1_ENST00000374469.1_Missense_Mutation_p.T2656I|SVEP1_ENST00000297826.5_Missense_Mutation_p.T605I NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 2679 Sushi 21. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 TGAAACCATGGTACCATACAG 0.473000 38 185 0 0 0.00111076 0 0 KRT25 147183 broad.mit.edu 37 17 38907296 38907296 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr17:38907296G>A ENST00000312150.4 - 5 927 c.867C>T c.(865-867)gtC>gtT p.V289V NM_181534.3 NP_853512.1 Q7Z3Z0 K1C25_HUMAN keratin 25 289 Coil 2.|Rod. cytoplasm|intermediate filament structural molecule activity endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4) 16 Breast(137;0.00526) TTGTGGCTCCGACATCCTCAG 0.483000 7 55 0 0 0.000274275 0 0 WDR63 126820 broad.mit.edu 37 1 85595745 85595745 + Missense_Mutation SNP C C T rs143304188 TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:85595745C>T ENST00000294664.6 + 22 2662 c.2482C>T c.(2482-2484)Cgt>Tgt p.R828C WDR63_ENST00000370596.1_Missense_Mutation_p.R789C|WDR63_ENST00000326813.8_Missense_Mutation_p.R789C NM_145172.3 NP_660155.2 Q8IWG1 WDR63_HUMAN WD repeat domain 63 828 NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3) 36 all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166) CAAAAAAATTCGTGAGCAAGA 0.368000 19 155 0 0 0.000958276 0 0 SULT1C2 6819 broad.mit.edu 37 2 108917321 108917321 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr2:108917321C>T ENST00000251481.6 + 4 758 c.305C>T c.(304-306)tCt>tTt p.S102F SULT1C2_ENST00000437390.2_Missense_Mutation_p.S116F|SULT1C2_ENST00000409880.1_Intron|SULT1C2_ENST00000326853.5_Intron NM_001056.3 NP_001047.1 O00338 ST1C2_HUMAN sulfotransferase family, cytosolic, 1C, member 2 102 3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine metabolic process|sulfation|xenobiotic metabolic process cytosol|microtubule cytoskeleton sulfotransferase activity NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 20 GCAATGCCCTCTCCACGGATA 0.478000 24 140 0 0 0.00127121 0 0 IQCG 84223 broad.mit.edu 37 3 197665521 197665521 + Missense_Mutation SNP C C A rs75671851 byFrequency TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr3:197665521C>A ENST00000265239.6 - 5 837 c.413G>T c.(412-414)cGg>cTg p.R138L IQCG_ENST00000455191.1_Missense_Mutation_p.R138L|IQCG_ENST00000453254.1_Missense_Mutation_p.R138L NM_032263.3 NP_115639.1 Q9H095 IQCG_HUMAN IQ motif containing G 138 autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.149) CACAGCGAACCGGCCTCTGTG 0.423000 7 264 0.00198382 0.00769889 0.00198382 1 0 TRBV2 28620 broad.mit.edu 37 7 142001095 142001095 + RNA SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr7:142001095G>A ENST00000455382.2 + 0 261 GCAGAAAGTCGAGTTTCTGGT 0.393000 4 31 0 0 0.00116845 0 0 PAPPA 5069 broad.mit.edu 37 9 118982244 118982244 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr9:118982244C>T ENST00000328252.3 + 5 2316 c.1947C>T c.(1945-1947)ccC>ccT p.P649P PAPPA_ENST00000534838.1_Intron NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 649 cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 CCTTCACGCCCAATCAAGTCG 0.592000 16 94 0 0 0.000566183 0 0 ZNF546 339327 broad.mit.edu 37 19 40521505 40521505 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr19:40521505C>T ENST00000347077.4 + 7 2544 c.2328C>T c.(2326-2328)ccC>ccT p.P776P ZNF546_ENST00000600094.1_Silent_p.P750P|ZNF546_ENST00000596894.1_Intron NM_178544.3 NP_848639.2 Q86UE3 ZN546_HUMAN zinc finger protein 546 776 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3) 34 all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925) GTGAGAAACCCTATAAATGTA 0.383000 5 37 0 0 0.000602214 0 0 CAMTA2 23125 broad.mit.edu 37 17 4876977 4876977 + Missense_Mutation SNP G G C TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr17:4876977G>C ENST00000361571.5 - 12 2512 c.2101C>G c.(2101-2103)Cgt>Ggt p.R701G CAMTA2_ENST00000414043.3_Missense_Mutation_p.R725G|CAMTA2_ENST00000348066.3_Missense_Mutation_p.R702G|CAMTA2_ENST00000381311.5_Missense_Mutation_p.R704G|RP5-1050D4.2_ENST00000430920.1_RNA|CAMTA2_ENST00000572543.1_Missense_Mutation_p.R707G|CAMTA2_ENST00000358183.4_Missense_Mutation_p.R702G NM_001171168.1 NP_001164639.1 O94983 CMTA2_HUMAN calmodulin binding transcription activator 2 702 cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 TGGGCCAGACGTTCAGGACCC 0.627000 8 48 0 0 0.000442599 0 0 SERPINB12 89777 broad.mit.edu 37 18 61231222 61231222 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr18:61231222G>A ENST00000382768.1 + 5 574 c.574G>A c.(574-576)Gaa>Aaa p.E192K SERPINB12_ENST00000269491.1_Missense_Mutation_p.E172K Q96P63 SPB12_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 12 172 negative regulation of protein catabolic process|regulation of proteolysis cytoplasm enzyme binding|serine-type endopeptidase inhibitor activity kidney(1)|large_intestine(5)|lung(19)|skin(1) 26 TAAAATCAAGGAACTCTTCAG 0.343000 14 82 0 0 0.000422831 0 0 C17orf74 201243 broad.mit.edu 37 17 7329683 7329683 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr17:7329683C>T ENST00000333870.3 + 3 447 c.373C>T c.(373-375)Cgt>Tgt p.R125C C17orf74_ENST00000574034.1_Intron|RP11-104H15.7_ENST00000575310.1_RNA NM_175734.4 NP_783861.3 Q0P670 CQ074_HUMAN chromosome 17 open reading frame 74 125 Arg-rich. integral to membrane cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 22 Prostate(122;0.157) TCGCTGTGTTcgtcgccgccg 0.607000 21 109 0 0 0.00152264 0 0 SLC19A2 10560 broad.mit.edu 37 1 169446914 169446914 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:169446914G>A ENST00000236137.5 - 2 522 c.286C>T c.(286-288)Cgt>Tgt p.R96C SLC19A2_ENST00000367804.3_Intron|SLC19A2_ENST00000367802.3_Missense_Mutation_p.R96C NM_006996.2 NP_008927.1 O60779 S19A2_HUMAN solute carrier family 19 (thiamine transporter), member 2 96 thiamine-containing compound metabolic process integral to membrane|plasma membrane folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1) 11 all_hematologic(923;0.208) GGTTTATAACGGAGGTAGTCT 0.428000 6 38 0 0 0.00116845 0 0 MCM3AP 8888 broad.mit.edu 37 21 47704348 47704348 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr21:47704348G>A ENST00000397708.1 - 2 1107 c.853C>T c.(853-855)Ccc>Tcc p.P285S MCM3AP_ENST00000291688.1_Missense_Mutation_p.P285S O60318 MCM3A_HUMAN minichromosome maintenance complex component 3 associated protein 285 DNA replication|protein import into nucleus cytosol|nucleus DNA binding|nucleotide binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 72 Breast(49;0.112) ATTAGGCTGGGAAGTGGTTCC 0.562000 5 116 0 0 0.00116845 0 0 CACNA2D3 55799 broad.mit.edu 37 3 55052277 55052277 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr3:55052277C>T ENST00000474759.1 + 35 2968 c.2920C>T c.(2920-2922)Cca>Tca p.P974S CACNA2D3_ENST00000288197.5_Missense_Mutation_p.P974S|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.P880S|CACNA2D3_ENST00000478261.1_3'UTR|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.P974S NM_018398.2 NP_060868.2 Q8IZS8 CA2D3_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 3 974 integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3) 59 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) TACTGAATATCCAGCATTCGT 0.473000 4 20 0 0 0.00116845 0 0 VCAN 1462 broad.mit.edu 37 5 82815771 82815771 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr5:82815771G>A ENST00000265077.3 + 7 2211 c.1646G>A c.(1645-1647)gGa>gAa p.G549E VCAN_ENST00000512590.2_Missense_Mutation_p.G501E|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.G549E|VCAN_ENST00000502527.2_Intron NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 549 GAG-alpha (glucosaminoglycan attachment domain). 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) GGTCACTATGGATTCACCTTG 0.413000 9 88 0 0 0.000442599 0 0 CSMD1 64478 broad.mit.edu 37 8 3000022 3000022 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr8:3000022G>A ENST00000520002.1 - 42 6764 c.6209C>T c.(6208-6210)tCg>tTg p.S2070L CSMD1_ENST00000602723.1_Missense_Mutation_p.S2070L|CSMD1_ENST00000400186.3_Missense_Mutation_p.S2070L|CSMD1_ENST00000602557.1_Missense_Mutation_p.S2070L|CSMD1_ENST00000523387.1_5'UTR|CSMD1_ENST00000542608.1_Missense_Mutation_p.S2069L|CSMD1_ENST00000539096.1_Missense_Mutation_p.S2069L|CSMD1_ENST00000537824.1_Missense_Mutation_p.S2069L Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 2070 CUB 12. integral to membrane p.S2069L(1)|p.S1798L(1) breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CCGGTTTTGCGAATGGTCACT 0.453000 6 43 0 0 0.00116845 0 0 CCDC19 25790 broad.mit.edu 37 1 159842795 159842795 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:159842795C>T ENST00000426543.2 - 11 1716 c.1261G>A c.(1261-1263)Gag>Aag p.E421K CCDC19_ENST00000476696.1_5'UTR|CCDC19_ENST00000368099.4_Missense_Mutation_p.E506K|RP11-190A12.7_ENST00000544342.1_Missense_Mutation_p.E4K Q9UL16 CCD19_HUMAN coiled-coil domain containing 19 506 mitochondrion|soluble fraction endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 26 all_hematologic(112;0.0597) BRCA - Breast invasive adenocarcinoma(70;0.151) TTCTGGGCCTCCTCTTTGAGG 0.577000 12 70 0 0 0.000978159 0 0 MAST4 375449 broad.mit.edu 37 5 66255112 66255112 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr5:66255112C>T ENST00000405643.1 + 1 415 c.37C>T c.(37-39)Ctg>Ttg p.L13L MAST4_ENST00000403666.1_Intron|MAST4_ENST00000406039.1_Intron|MAST4_ENST00000406374.1_Intron|MAST4_ENST00000404260.3_Intron|MAST4_ENST00000407621.1_Silent_p.L13L|MAST4_ENST00000403625.2_Intron|MAST4_ENST00000490016.2_Intron O15021 MAST4_HUMAN microtubule associated serine/threonine kinase family member 4 1102 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) GATTCCGGGGCTGACCTTGGA 0.458000 5 36 0 0 0.00116845 0 0 TMEM38A 79041 broad.mit.edu 37 19 16797160 16797160 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr19:16797160C>T ENST00000187762.2 + 5 707 c.616C>T c.(616-618)Cca>Tca p.P206S NM_024074.1 NP_076979.1 Q9H6F2 TM38A_HUMAN transmembrane protein 38A 206 integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane potassium channel activity central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1) 15 CCGCTGGCTCCCAGTGTCCAA 0.562000 5 41 0 0 0.000602214 0 0 MAATS1 89876 broad.mit.edu 37 3 119462963 119462963 + Missense_Mutation SNP C C T rs139653997 TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr3:119462963C>T ENST00000273390.5 + 14 1899 c.1822C>T c.(1822-1824)Cgg>Tgg p.R608W NM_033364.3 NP_203528.2 MYCBP-associated, testis expressed 1 p.R608W(1) GCGCCAGCGGCGGGTACGAGA 0.587000 8 94 0 0 0.000274275 0 0 OBSCN 84033 broad.mit.edu 37 1 228547307 228547307 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:228547307C>T ENST00000284548.11 + 81 18788 c.18714C>T c.(18712-18714)acC>acT p.T6238T OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366709.4_Silent_p.T3357T|OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000570156.2_Intron Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 6238 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) GAGAAGAGACCATCACCACTG 0.642000 3 5 0 0 6.4e-05 0 0 MRO 83876 broad.mit.edu 37 18 48327812 48327812 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr18:48327812C>T ENST00000428869.2 - 7 750 c.492G>A c.(490-492)ggG>ggA p.G164G MRO_ENST00000431965.2_Intron|MRO_ENST00000256425.2_Silent_p.G164G|MRO_ENST00000436348.2_Silent_p.G178G|MRO_ENST00000588444.1_Intron|MRO_ENST00000587291.1_5'UTR|MRO_ENST00000398439.3_Silent_p.G164G Q9BYG7 MSTRO_HUMAN maestro 164 nucleolus binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2) 10 Colorectal(6;0.0596) Colorectal(21;0.082) TCCATTTCCTCCCGGCAAAGG 0.468000 20 126 0 0 0.000958276 0 0 MTNR1A 4543 broad.mit.edu 37 4 187455423 187455423 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr4:187455423G>A ENST00000307161.5 - 2 674 c.473C>T c.(472-474)gCc>gTc p.A158V RP11-215A19.2_ENST00000509111.1_Intron NM_005958.3 NP_005949.1 P48039 MTR1A_HUMAN melatonin receptor 1A 158 circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior integral to plasma membrane melatonin receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 14 all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202) OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159) Melatonin(DB01065)|Ramelteon(DB00980) GGGCAGGACGGCCGCCAGCGT 0.602000 7 75 0 0 0.000157383 0 0 PARP14 54625 broad.mit.edu 37 3 122437232 122437232 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr3:122437232C>T ENST00000474629.2 + 14 4500 c.4234C>T c.(4234-4236)Ccc>Tcc p.P1412S PARP14_ENST00000475640.1_3'UTR NM_017554.2 NP_060024.2 Q460N5 PAR14_HUMAN poly (ADP-ribose) polymerase family, member 14 1412 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane NAD+ ADP-ribosyltransferase activity NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 50 GBM - Glioblastoma multiforme(114;0.0531) AAAGCAATCTCCCCAAAAAAA 0.353000 13 71 0 0 0.00185496 0 0 MROH5 389690 broad.mit.edu 37 8 142481272 142481272 + RNA SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr8:142481272C>T ENST00000430863.1 - 0 1969 NM_207414.2 NP_997297.2 maestro heat-like repeat family member 5 TTGCCCAATCCTTTTGAAGTC 0.577000 17 50 0 0 0.00074312 0 0 RTDR1 27156 broad.mit.edu 37 22 23401696 23401696 + Missense_Mutation SNP C C T rs35881601 byFrequency TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr22:23401696C>T ENST00000216036.4 - 7 1187 c.991G>A c.(991-993)Gaa>Aaa p.E331K NM_014433.2 NP_055248.1 Q9UHP6 RTDR1_HUMAN rhabdoid tumor deletion region gene 1 331 binding breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 18 all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181) READ - Rectum adenocarcinoma(21;0.175) TGTAAGGCTTCGGCCACTTGA 0.582000 20 99 0 0 0.000958276 0 0 PRAMEF2 65122 broad.mit.edu 37 1 12921089 12921089 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:12921089C>T ENST00000240189.2 + 4 967 c.880C>T c.(880-882)Ccc>Tcc p.P294S NM_023014.1 NP_075390.1 O60811 PRAM2_HUMAN PRAME family member 2 294 p.P294T(1) breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4) 42 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CCTCCAGAACCCCTTGGAGAA 0.458000 19 120 0 0 0.00152264 0 0 PAPPA 5069 broad.mit.edu 37 9 118949912 118949912 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr9:118949912C>T ENST00000328252.3 + 2 1264 c.895C>T c.(895-897)Ccc>Tcc p.P299S NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 299 Metalloprotease. cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 98 TGCCTGGTCCCCCATGAAGGA 0.577000 9 61 0 0 0.000274275 0 0 RNF8 9025 broad.mit.edu 37 6 37358613 37358613 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr6:37358613G>A ENST00000469731.1 + 7 1406 c.1332G>A c.(1330-1332)gtG>gtA p.V444V RNF8_ENST00000373479.4_3'UTR O76064 RNF8_HUMAN ring finger protein 8, E3 ubiquitin protein ligase 0 cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation midbody|nucleus|ubiquitin ligase complex chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1) 13 CTCTAGCCGTGACTCCGCTGC 0.537000 13 72 0 0 0.00185496 0 0 OR10A7 121364 broad.mit.edu 37 12 55615172 55615172 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr12:55615172C>T ENST00000326258.1 + 1 364 c.364C>T c.(364-366)Cgc>Tgc p.R122C NM_001005280.1 NP_001005280.1 Q8NGE5 O10A7_HUMAN olfactory receptor, family 10, subfamily A, member 7 122 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3) 24 GGCTTATGATCGCTTTGTGGC 0.448000 4 24 0 0 0.00024832 0 0 VCX3A 51481 broad.mit.edu 37 X 6451806 6451806 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chrX:6451806C>T ENST00000381089.3 - 3 847 c.541G>A c.(541-543)Gaa>Aaa p.E181K VCX3A_ENST00000398729.1_Missense_Mutation_p.E161K NM_016379.3 NP_057463.2 Q9NNX9 VCX3_HUMAN variable charge, X-linked 3A 181 8 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.|Glu-rich. brain development nucleolus NS(1)|lung(2)|pancreas(1) 4 GGTAGTTCTTCCATCTCGCTC 0.597000 27 85 0 0 0.00178596 0 0 EVPL 2125 broad.mit.edu 37 17 74005599 74005599 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr17:74005599C>T ENST00000301607.3 - 22 3940 c.3687G>A c.(3685-3687)aaG>aaA p.K1229K EVPL_ENST00000586740.1_Silent_p.K1251K NM_001988.2 NP_001979.2 Q92817 EVPL_HUMAN envoplakin 1229 Central fibrous rod domain. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 TCTCCACCTCCTTCTCCACAC 0.627000 7 83 0 0 0.00198382 0 0 NIM1K 167359 broad.mit.edu 37 5 43280111 43280111 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr5:43280111G>A ENST00000512796.1 + 4 2090 c.591G>A c.(589-591)ctG>ctA p.L197L NIM1_ENST00000326035.2_Silent_p.L197L Q8IY84 NIM1_HUMAN 197 Protein kinase. ATP binding|magnesium ion binding|protein serine/threonine kinase activity ATAGAGATCTGAAAGCAGAAA 0.333000 11 47 0 0 0.000978159 0 0 DSP 1832 broad.mit.edu 37 6 7571748 7571748 + Missense_Mutation SNP T T C TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr6:7571748T>C ENST00000379802.3 + 14 2175 c.1834T>C c.(1834-1836)Ttc>Ctc p.F612L DSP_ENST00000418664.2_Missense_Mutation_p.F612L NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 612 Globular 1. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) ACAGTCTCAGTTCACCGATGC 0.488000 25 95 0 0 0.000878237 0 0 ASTN1 460 broad.mit.edu 37 1 176833426 176833426 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:176833426C>T ENST00000367654.2 - 23 3916 c.3903G>A c.(3901-3903)gaG>gaA p.E1301E ASTN1_ENST00000361833.2_Silent_p.E1293E|ASTN1_ENST00000367657.3_Intron O14525 ASTN1_HUMAN astrotactin 1 1301 cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 GGTGCTAGATCTCTTTGCTGT 0.517000 14 147 0 0 0.000308642 0 0 CCER1 196477 broad.mit.edu 37 12 91348321 91348321 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr12:91348321G>A ENST00000358859.2 - 1 632 c.199C>T c.(199-201)Ccg>Tcg p.P67S CCER1_ENST00000548187.1_Intron NM_152638.2 NP_689851.1 coiled-coil glutamate-rich protein 1 TGTTGCTTCGGCTGCTTCCTT 0.652000 5 32 0 0 0.000602214 0 0 TECTA 7007 broad.mit.edu 37 11 120989022 120989022 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr11:120989022C>T ENST00000392793.1 + 7 1069 c.798C>T c.(796-798)ttC>ttT p.F266F TECTA_ENST00000264037.2_Silent_p.F266F O75443 TECTA_HUMAN tectorin alpha 266 VWFC. cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) CAGGACAATTCCTTCGGCGAG 0.473000 6 51 0 0 0.00116845 0 0 MAPK15 225689 broad.mit.edu 37 8 144803758 144803758 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr8:144803758C>T ENST00000338033.4 + 12 1363 c.1244C>T c.(1243-1245)tCc>tTc p.S415F NM_139021.2 NP_620590.2 Q8TD08 MK15_HUMAN mitogen-activated protein kinase 15 415 protein autophosphorylation extracellular region ATP binding|MAP kinase activity|SH3 domain binding endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1) 12 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-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;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) AGGCAGAACTCCGCTCCCCTG 0.637000 15 58 0 0 0.000422831 0 0 LAMA3 3909 broad.mit.edu 37 18 21419774 21419774 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr18:21419774G>A ENST00000313654.9 + 27 3458 c.3217G>A c.(3217-3219)Gaa>Aaa p.E1073K LAMA3_ENST00000399516.3_Missense_Mutation_p.E1073K NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 1073 Domain IV 1 (domain IV B). cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CTTGGCCCATGAAACTCCTCC 0.443000 20 90 0 0 0.00188189 0 0 AGTR2 186 broad.mit.edu 37 X 115303705 115303705 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chrX:115303705G>A ENST00000371906.4 + 3 362 c.172G>A c.(172-174)Gga>Aga p.G58R NM_000686.4 NP_000677.2 P50052 AGTR2_HUMAN angiotensin II receptor, type 2 58 behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin angiotensin type II receptor activity|receptor antagonist activity breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1) 24 ATTTGTAATTGGATTTCTGGT 0.363000 6 18 0 0 0.00116845 0 0 OR2B3 442184 broad.mit.edu 37 6 29054291 29054291 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr6:29054291C>T ENST00000377173.2 - 1 799 c.735G>A c.(733-735)atG>atA p.M245I NM_001005226.2 NP_001005226.1 olfactory receptor, family 2, subfamily B, member 3 breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2) 24 ACACCACAATCATGTGGGACC 0.443000 5 31 0 0 0.00116845 0 0 ZNF746 155061 broad.mit.edu 37 7 149174082 149174082 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr7:149174082G>A ENST00000340622.3 - 6 1049 c.769C>T c.(769-771)Cct>Tct p.P257S ZNF746_ENST00000458143.2_Missense_Mutation_p.P257S Q6NUN9 ZN746_HUMAN zinc finger protein 746 257 negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent cytoplasm|nucleus transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) TGGTGGGGAGGGAGATCCGTT 0.627000 6 56 0 0 0.00116845 0 0 MTUS2 23281 broad.mit.edu 37 13 29600504 29600504 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr13:29600504G>A ENST00000431530.3 + 1 1757 c.1699G>A c.(1699-1701)Gat>Aat p.D567N NM_001033602.2 NP_001028774.2 Q5JR59 MTUS2_HUMAN microtubule associated tumor suppressor candidate 2 557 cytoplasm|microtubule microtubule binding|protein homodimerization activity NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 CAGTTTTCAGGATGTTAGCGT 0.522000 14 96 0 0 0.000308642 0 0 FAM135B 51059 broad.mit.edu 37 8 139263089 139263089 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr8:139263089C>T ENST00000395297.1 - 6 707 c.537G>A c.(535-537)ttG>ttA p.L179L NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 179 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) CATACCTGATCAATGGCTGCT 0.562000 HNSCC(54;0.14) 16 58 0 0 0.00121646 0 0 DNAH7 56171 broad.mit.edu 37 2 196729521 196729521 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr2:196729521G>A ENST00000312428.6 - 41 6958 c.6858C>T c.(6856-6858)atC>atT p.I2286I NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 2286 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 CCACATCTGCGATTTCTCTGT 0.378000 16 97 0 0 0.000566183 0 0 ADAMDEC1 27299 broad.mit.edu 37 8 24256428 24256428 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr8:24256428G>A ENST00000538205.1 + 10 1114 c.567G>A c.(565-567)atG>atA p.M189I ADAMDEC1_ENST00000256412.4_Missense_Mutation_p.M268I|ADAMDEC1_ENST00000522298.1_Missense_Mutation_p.M189I|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA NM_001145271.1 NP_001138743.1 O15204 ADEC1_HUMAN ADAM-like, decysin 1 268 integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis extracellular region|integral to membrane integrin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1) 9 Prostate(55;0.0181) Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168) TGGTAGGTATGGAAATCTGGT 0.438000 6 27 0 0 0.00198382 0 0 FAR2 55711 broad.mit.edu 37 12 29460616 29460616 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr12:29460616G>A ENST00000182377.4 + 5 839 c.571G>A c.(571-573)Gag>Aag p.E191K FAR2_ENST00000547116.1_Missense_Mutation_p.E94K|RP11-996F15.2_ENST00000553105.1_RNA|FAR2_ENST00000536681.2_Missense_Mutation_p.E191K NM_018099.3 NP_060569.3 Q96K12 FACR2_HUMAN fatty acyl CoA reductase 2 191 ether lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1) 29 TATTATTGACGAGATTACACC 0.403000 8 66 0 0 0.000442599 0 0 PADI3 51702 broad.mit.edu 37 1 17606925 17606925 + Splice_Site SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:17606925G>A ENST00000375460.3 + 14 1675 c.e14+1 NM_016233.2 NP_057317.2 Q9ULW8 PADI3_HUMAN peptidyl arginine deiminase, type III peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) GTTTGTGCAGGTACAAGGGCT 0.493000 8 42 0 0 0.000157383 0 0 BRCA1 672 broad.mit.edu 37 17 41223245 41223245 + Silent SNP A A G TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr17:41223245A>G ENST00000309486.4 - 14 4825 c.3798T>C c.(3796-3798)ccT>ccC p.P1266P BRCA1_ENST00000346315.3_Intron|BRCA1_ENST00000491747.2_Silent_p.P458P|BRCA1_ENST00000354071.3_Intron|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000493795.1_Silent_p.P1515P|BRCA1_ENST00000357654.3_Silent_p.P1562P|BRCA1_ENST00000471181.2_Silent_p.P1583P|BRCA1_ENST00000468300.1_Silent_p.P458P|BRCA1_ENST00000352993.3_Silent_p.P420P|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000351666.3_Silent_p.P379P|BRCA1_ENST00000591534.1_Silent_p.P53P NM_007297.3 NP_009228.2 P38398 BRCA1_HUMAN breast cancer 1, early onset 1562 androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2) 120 Breast(137;0.000717) BRCA - Breast invasive adenocarcinoma(366;0.126) ATTCCAGGTAAGGGGTTCCCT 0.418000 """D, Mis, N, F, S""" ovarian """breast, ovarian""" Homologous recombination Hereditary Breast-Ovarian Cancer, BRCA1 type TCGA Ovarian(2;0.000030) 18 103 0 0 0.000958276 0 0 RHO 6010 broad.mit.edu 37 3 129252474 129252474 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr3:129252474C>T ENST00000296271.3 + 5 1054 c.960C>T c.(958-960)acC>acT p.T320T NM_000539.3 NP_000530.1 P08100 OPSD_HUMAN rhodopsin 320 protein-chromophore linkage|rhodopsin mediated signaling pathway Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 22 all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183) GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234) Halothane(DB01159) TGCTCACCACCATCTGCTGCG 0.617000 22 109 0 0 0.00229938 0 0 OR51D1 390038 broad.mit.edu 37 11 4661752 4661752 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr11:4661752G>A ENST00000357605.2 + 1 808 c.732G>A c.(730-732)cgG>cgA p.R244R NM_001004751.2 NP_001004751.1 Q8NGF3 O51D1_HUMAN olfactory receptor, family 51, subfamily D, member 1 244 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R244R(1) autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1) 27 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19) TGTCCTCTCGGAGGGCAGCAC 0.527000 19 84 0 0 0.000958276 0 0 FGFR4 2264 broad.mit.edu 37 5 176519691 176519691 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr5:176519691G>A ENST00000292408.4 + 8 1208 c.963G>A c.(961-963)cgG>cgA p.R321R FGFR4_ENST00000292410.3_Silent_p.R321R|FGFR4_ENST00000393637.1_Silent_p.R321R|FGFR4_ENST00000502906.1_Silent_p.R321R|FGFR4_ENST00000393648.2_Silent_p.R321R NM_002011.3|NM_213647.1 NP_002002.3|NP_998812.1 P22455 FGFR4_HUMAN fibroblast growth factor receptor 4 321 Ig-like C2-type 3. insulin receptor signaling pathway|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 34 all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Palifermin(DB00039) TGTACCTGCGGAACGTGTCAG 0.642000 TSP Lung(9;0.080) 11 44 0 0 0.000978159 0 0 ANKRD20A8P 729171 broad.mit.edu 37 2 95513821 95513821 + RNA SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr2:95513821G>A ENST00000432432.2 - 0 790 NR_040113.1 TGTCTTGAGCGAAGACATCAA 0.353000 34 348 0 0 0.000692331 0 0 NCKAP5 344148 broad.mit.edu 37 2 133542791 133542791 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr2:133542791C>T ENST00000409261.1 - 14 1966 c.1593G>A c.(1591-1593)aaG>aaA p.K531K NCKAP5_ENST00000317721.6_Silent_p.K531K|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 531 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 CAGGCCTTTCCTTGGGATAAA 0.517000 26 170 0 0 0.00127121 0 0 ZMYM1 79830 broad.mit.edu 37 1 35579992 35579992 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:35579992C>T ENST00000373330.1 + 11 2735 c.2561C>T c.(2560-2562)tCc>tTc p.S854F ZMYM1_ENST00000359858.4_Missense_Mutation_p.S854F|ZMYM1_ENST00000373329.1_3'UTR Q5SVZ6 ZMYM1_HUMAN zinc finger, MYM-type 1 854 nucleus nucleic acid binding|protein dimerization activity|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 31 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) ACATTGGTTTCCAAATTTGAA 0.343000 6 37 0 0 0.00116845 0 0 DSCAM 1826 broad.mit.edu 37 21 41684099 41684099 + Silent SNP G G T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr21:41684099G>T ENST00000400454.1 - 9 2448 c.1971C>A c.(1969-1971)tcC>tcA p.S657S NM_001389.3 NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 657 Ig-like C2-type 7. 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) GCGAGAGATTGGAAATCCTCA 0.537000 17 50 1.99824e-07 7.86876e-07 0.000566183 1 0 OXSM 54995 broad.mit.edu 37 3 25833013 25833013 + Nonsense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr3:25833013C>T ENST00000280701.3 + 2 601 c.502C>T c.(502-504)Cag>Tag p.Q168* OXSM_ENST00000420173.2_Nonsense_Mutation_p.Q168*|OXSM_ENST00000449808.1_Intron NM_017897.2 NP_060367.1 Q9NWU1 OXSM_HUMAN 3-oxoacyl-ACP synthase, mitochondrial 168 acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process mitochondrion 3-oxoacyl-[acyl-carrier-protein] synthase activity breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 25 TTTGAATTTTCAGACAAAAGG 0.433000 10 88 0 0 0.000978159 0 0 SLC9C1 285335 broad.mit.edu 37 3 111901020 111901020 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr3:111901020G>A ENST00000305815.5 - 21 2861 c.2609C>T c.(2608-2610)cCg>cTg p.P870L SLC9C1_ENST00000487372.1_Missense_Mutation_p.P822L NM_183061.1 NP_898884.1 Q4G0N8 S9A10_HUMAN solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1 870 cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis cilium|flagellar membrane|integral to membrane solute:hydrogen antiporter activity ATCTAGCCACGGAATATGATA 0.259000 12 75 0 0 0.00136819 0 0 COL6A3 1293 broad.mit.edu 37 2 238274679 238274679 + Splice_Site SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr2:238274679C>T ENST00000295550.4 - 12 5953 c.e12-1 COL6A3_ENST00000472056.1_Splice_Site|COL6A3_ENST00000347401.3_Splice_Site|COL6A3_ENST00000346358.4_Splice_Site|COL6A3_ENST00000353578.4_Splice_Site|COL6A3_ENST00000409809.1_Splice_Site NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 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) AGATTACAAGCTGGAAAGGAG 0.512000 7 60 0 0 0.00198382 0 0 SUPT5H 6829 broad.mit.edu 37 19 39963571 39963571 + Splice_Site SNP T T A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr19:39963571T>A ENST00000599117.1 + 23 2522 c.e23+2 SUPT5H_ENST00000432763.2_Splice_Site|SUPT5H_ENST00000598725.1_Splice_Site|SUPT5H_ENST00000402194.2_Splice_Site|SUPT5H_ENST00000359191.6_Splice_Site O00267 SPT5H_HUMAN suppressor of Ty 5 homolog (S. cerevisiae) cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter nucleoplasm enzyme binding|protein heterodimerization activity breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 51 all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159) Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) CCTACAAAGGTGACCTGCGAG 0.677000 4 28 0 0 0.000602214 0 0 LGALS12 85329 broad.mit.edu 37 11 63283158 63283158 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr11:63283158C>T ENST00000415491.2 + 7 1268 c.654C>T c.(652-654)ttC>ttT p.F218F LGALS12_ENST00000340246.5_Silent_p.F280F|LGALS12_ENST00000394618.3_Silent_p.F279F|LGALS12_ENST00000255684.5_Silent_p.F270F|LGALS12_ENST00000425950.2_Silent_p.F209F NM_001142537.1 NP_001136009.1 Q96DT0 LEG12_HUMAN lectin, galactoside-binding, soluble, 12 279 Galectin 2. apoptosis|induction of apoptosis by intracellular signals nucleus lactose binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 16 CAGCCCCCTTCCTCTTTTACC 0.552000 6 40 0 0 0.00116845 0 0 MROH2B 133558 broad.mit.edu 37 5 41058176 41058176 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr5:41058176G>A ENST00000399564.4 - 7 1195 c.745C>T c.(745-747)Cat>Tat p.H249Y MROH2B_ENST00000506092.2_5'UTR NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B TGAGTGACATGGAAATCAATC 0.522000 13 38 0 0 0.000566183 0 0 SPNS1 83985 broad.mit.edu 37 16 28990507 28990507 + Missense_Mutation SNP T T A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr16:28990507T>A ENST00000311008.11 + 4 853 c.476T>A c.(475-477)cTg>cAg p.L159Q SPNS1_ENST00000323081.8_Missense_Mutation_p.L86Q|RP11-264B17.3_ENST00000569969.1_RNA|SPNS1_ENST00000565975.1_Missense_Mutation_p.L204Q|SPNS1_ENST00000561868.1_3'UTR|SPNS1_ENST00000334536.8_Missense_Mutation_p.L159Q|SPNS1_ENST00000352260.7_Missense_Mutation_p.L137Q NM_032038.2 NP_114427.1 Q9H2V7 SPNS1_HUMAN spinster homolog 1 (Drosophila) 159 lipid transport|transmembrane transport integral to membrane|mitochondrial inner membrane protein binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1) 21 ACCCGGGGCCTGGTGGGGGTC 0.662000 11 69 0 0 0.00185496 0 0 C9orf96 169436 broad.mit.edu 37 9 136259426 136259426 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr9:136259426C>T ENST00000371957.3 + 8 699 c.592C>T c.(592-594)Cgt>Tgt p.R198C C9orf96_ENST00000371955.1_5'UTR NM_153710.3 NP_714921.3 Q8NE28 SGK71_HUMAN chromosome 9 open reading frame 96 198 Protein kinase. ATP binding|protein kinase activity p.R198C(1) autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2) 25 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05) AGACCCCTTTCGTAAGTCCTG 0.567000 23 99 0 0 0.00278032 0 0 MEGF11 84465 broad.mit.edu 37 15 66223205 66223205 + Translation_Start_Site SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr15:66223205C>T ENST00000395614.1 - 0 1424 MEGF11_ENST00000422354.1_Missense_Mutation_p.G455D|MEGF11_ENST00000395625.2_Missense_Mutation_p.G380D|MEGF11_ENST00000360698.4_Missense_Mutation_p.G455D|MEGF11_ENST00000409699.2_Missense_Mutation_p.G455D|MEGF11_ENST00000288745.3_Missense_Mutation_p.G380D A6BM72 MEG11_HUMAN multiple EGF-like-domains 11 basolateral plasma membrane|integral to membrane breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 19 GCAGGTGCCACCATTGTTACA 0.562000 11 66 0 0 0.00136819 0 0 F8 2157 broad.mit.edu 37 X 154128148 154128148 + Nonsense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chrX:154128148C>T ENST00000360256.4 - 21 6466 c.6266G>A c.(6265-6267)tGg>tAg p.W2089* NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 2089 F5/8 type C 1. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) AACCTTGATCCAAGAAAAGGG 0.413000 4 15 0 0 0.000602214 0 0 GMEB1 10691 broad.mit.edu 37 1 29041063 29041063 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:29041063G>A ENST00000373816.1 + 10 1608 c.1470G>A c.(1468-1470)atG>atA p.M490I GMEB1_ENST00000361872.4_Missense_Mutation_p.M490I|GMEB1_ENST00000480454.1_3'UTR|GMEB1_ENST00000294409.2_Missense_Mutation_p.M500I NM_024482.2 NP_077808.1 Q9Y692 GMEB1_HUMAN glucocorticoid modulatory element binding protein 1 500 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|metal ion binding|transcription coactivator activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4) 11 Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649) TGGTGGCCATGGAGTCCGGCC 0.557000 6 47 0 0 0.000157383 0 0 DUSP27 92235 broad.mit.edu 37 1 167095846 167095846 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:167095846G>A ENST00000361200.2 + 6 1644 c.1478G>A c.(1477-1479)cGg>cAg p.R493Q DUSP27_ENST00000443333.1_Missense_Mutation_p.R493Q|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.R493Q Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 (putative) 493 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3) 89 GAGGCTTCCCGGAGGTACCAC 0.647000 5 46 0 0 0.000602214 0 0 LOC81691 81691 broad.mit.edu 37 16 20855312 20855312 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr16:20855312C>T ENST00000261377.6 + 16 1892 c.1683C>T c.(1681-1683)tcC>tcT p.S561S AC004381.6_ENST00000348433.6_Intron|AC004381.6_ENST00000564274.1_Silent_p.S561S|ERI2_ENST00000564349.1_Intron NM_001199053.1|NM_030941.2 NP_001185982.1|NP_112203.2 CCATAGAATCCTTGGATGGTA 0.473000 5 76 0 0 0.000602214 0 0 CSHL1 1444 broad.mit.edu 37 17 61987860 61987860 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr17:61987860G>A ENST00000392824.4 - 2 496 c.435C>T c.(433-435)tcC>tcT p.S145S CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000346606.6_5'UTR|CSHL1_ENST00000450719.3_5'UTR|CSHL1_ENST00000561003.1_Intron|CSHL1_ENST00000259003.10_Intron|CSHL1_ENST00000309894.5_Silent_p.L76L Q14406 CSHL_HUMAN chorionic somatomammotropin hormone-like 1 0 extracellular region hormone activity|metal ion binding endometrium(3)|lung(6) 9 GAGTCATGCAGGAATGAATAC 0.517000 10 133 0 0 0.000673444 0 0 ASPSCR1 79058 broad.mit.edu 37 17 79954429 79954429 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr17:79954429C>T ENST00000306729.7 + 7 737 c.640C>T c.(640-642)Cgt>Tgt p.R214C ASPSCR1_ENST00000580534.1_Missense_Mutation_p.R137C|ASPSCR1_ENST00000306739.4_Missense_Mutation_p.R214C NM_001251888.1 NP_001238817.1 Q9BZE9 ASPC1_HUMAN alveolar soft part sarcoma chromosome region, candidate 1 214 protein binding ASPSCR1/TFE3(167) breast(2)|large_intestine(2) 4 all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191) CGACTTGAGCCGTCCGGAGGA 0.682000 T TFE3 alveolar soft part sarcoma 5 27 0 0 0.000602214 0 0 EFS 10278 broad.mit.edu 37 14 23828856 23828856 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr14:23828856C>T ENST00000216733.3 - 4 1438 c.831G>A c.(829-831)caG>caA p.Q277Q EFS_ENST00000429593.2_Silent_p.Q108Q|EFS_ENST00000351354.3_Silent_p.Q184Q NM_005864.2 NP_005855.1 O43281 EFS_HUMAN embryonal Fyn-associated substrate 277 Pro-rich. cell adhesion|intracellular signal transduction cytoplasm SH3 domain binding endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2) 16 all_cancers(95;7.12e-06) GBM - Glioblastoma multiforme(265;0.00649) CCAGGGTGTCCTGGTCATGGG 0.706000 5 40 0 0 0.00116845 0 0 NCAPH 23397 broad.mit.edu 37 2 97017715 97017715 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr2:97017715C>T ENST00000455200.1 + 7 1129 c.834C>T c.(832-834)ctC>ctT p.L278L NCAPH_ENST00000240423.4_Silent_p.L289L|NCAPH_ENST00000427946.1_Silent_p.L153L Q15003 CND2_HUMAN non-SMC condensin I complex, subunit H 289 cell division|mitotic chromosome condensation condensin complex|cytoplasm|microtubule cytoskeleton|nucleus haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Ovarian(717;0.0221) GAGAACCTCTCGAGTTGCCAG 0.468000 11 90 0 0 0.000673444 0 0 RAB27B 5874 broad.mit.edu 37 18 52546599 52546599 + Splice_Site SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr18:52546599G>A ENST00000262094.5 + 3 674 c.e3-1 RAB27B_ENST00000586594.1_Splice_Site NM_004163.4 NP_004154.2 O00194 RB27B_HUMAN RAB27B, member RAS oncogene family protein transport|small GTPase mediated signal transduction Golgi apparatus|plasma membrane GTP binding|GTPase activity large_intestine(3)|lung(3)|skin(1) 7 Colorectal(16;0.0273)|READ - Rectum adenocarcinoma(59;0.219) GTATCTTTCAGGTTTATAATG 0.388000 6 36 0 0 0.000157383 0 0 ABHD17A 81926 broad.mit.edu 37 19 1881333 1881333 + Missense_Mutation SNP T T C TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr19:1881333T>C ENST00000292577.7 - 2 666 c.233A>G c.(232-234)tAc>tGc p.Y78C ABHD17A_ENST00000250974.9_Missense_Mutation_p.Y78C|ABHD17A_ENST00000590661.1_Missense_Mutation_p.Y78C NM_001130111.1 NP_001123583.1 abhydrolase domain containing 17A GCGCTGGCTGTACTGGAAGTC 0.706000 6 37 0 0 0.000978159 0 0 LCT 3938 broad.mit.edu 37 2 136566592 136566592 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr2:136566592C>T ENST00000264162.2 - 8 3335 c.3325G>A c.(3325-3327)Gat>Aat p.D1109N NM_002299.2 NP_002290.2 P09848 LPH_HUMAN lactase 1109 4 X approximate repeats. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|integral to plasma membrane|membrane fraction cation binding|glycosylceramidase activity|lactase activity breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4) 124 BRCA - Breast invasive adenocarcinoma(221;0.169) TATTTCTCATCGTACGTGTGA 0.582000 8 74 0 0 0.000157383 0 0 GOLGA6L17P 642402 broad.mit.edu 37 15 85053142 85053142 + RNA SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr15:85053142C>T ENST00000414190.2 - 0 310 NR_003246.2 TTTTTCAATTCCTTGACCCGC 0.413000 4 17 0 0 0.00024832 0 0 BYSL 705 broad.mit.edu 37 6 41889369 41889369 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr6:41889369C>T ENST00000230340.4 + 1 444 c.69C>T c.(67-69)atC>atT p.I23I NM_004053.3 NP_004044.3 Q13895 BYST_HUMAN bystin-like 23 cell adhesion|female pregnancy|ribosome biogenesis cytoplasm|nucleolus endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(5)|skin(1) 8 Colorectal(47;0.121) STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000473)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) CCGATCAGATCCTGGCTGGGA 0.652000 OREG0017436 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 36 0 0 0.000274275 0 0 HSD3B1 3283 broad.mit.edu 37 1 120050235 120050235 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:120050235G>A ENST00000235547.6 + 2 281 c.142G>A c.(142-144)Gaa>Aaa p.E48K HSD3B1_ENST00000369413.3_Missense_Mutation_p.E46K|HSD3B1_ENST00000528909.1_Missense_Mutation_p.E46K NM_000862.2 NP_000853.1 P14060 3BHS1_HUMAN hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 46 androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1) 32 all_neural(166;0.219) all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624) Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554) NADH(DB00157)|Trilostane(DB01108) ATTGAGAGAGGAATTTTCTAG 0.478000 16 89 0 0 0.00074312 0 0 SLC22A14 9389 broad.mit.edu 37 3 38347827 38347827 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr3:38347827C>T ENST00000273173.4 + 1 401 c.310C>T c.(310-312)Ctg>Ttg p.L104L SLC22A14_ENST00000448498.1_Silent_p.L104L NM_004803.3 NP_004794.2 Q9Y267 S22AE_HUMAN solute carrier family 22, member 14 104 integral to plasma membrane organic cation transmembrane transporter activity central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1) 21 KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696) CAGCTGGATCCTGGCAGTGGG 0.537000 11 84 0 0 0.000673444 0 0 ABCC6 368 broad.mit.edu 37 16 16278870 16278870 + Missense_Mutation SNP G G C TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr16:16278870G>C ENST00000205557.7 - 15 1918 c.1889C>G c.(1888-1890)aCc>aGc p.T630S ABCC6_ENST00000574094.1_5'UTR NM_001171.5 NP_001162.4 O95255 MRP6_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 6 630 ABC transporter 1. response to drug|visual perception integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (3;0.123) ACTGTGTATGGTGATGCAATC 0.602000 9 68 0 0 0.000673444 0 0 LPAR3 23566 broad.mit.edu 37 1 85331090 85331090 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:85331090C>T ENST00000440886.1 - 1 752 c.714G>A c.(712-714)atG>atA p.M238I LPAR3_ENST00000370611.3_Missense_Mutation_p.M238I|LPAR3_ENST00000491034.1_5'UTR Q9UBY5 LPAR3_HUMAN lysophosphatidic acid receptor 3 238 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane|intracellular membrane-bounded organelle central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1) 24 TCACCGTCTTCATTAGCTTCA 0.507000 6 33 0 0 0.00116845 0 0 ALDH4A1 8659 broad.mit.edu 37 1 19216515 19216515 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:19216515G>A ENST00000375341.3 - 2 404 c.147C>T c.(145-147)gcC>gcT p.A49A RP13-279N23.2_ENST00000494072.3_3'UTR|ALDH4A1_ENST00000538309.1_5'UTR|ALDH4A1_ENST00000538839.1_Silent_p.A49A|ALDH4A1_ENST00000290597.5_Silent_p.A49A NM_003748.3 NP_003739.2 P30038 AL4A1_HUMAN aldehyde dehydrogenase 4 family, member A1 49 proline biosynthetic process|proline catabolic process mitochondrial matrix 1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1) 15 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) NADH(DB00157) CCTTTTGCAGGGCATCTCGCT 0.652000 4 19 0 0 0.000602214 0 0 NPLOC4 55666 broad.mit.edu 37 17 79573813 79573813 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr17:79573813G>A ENST00000374747.5 - 7 687 c.558C>T c.(556-558)atC>atT p.I186I NPLOC4_ENST00000574344.1_5'UTR|NPLOC4_ENST00000539314.1_Silent_p.I25I|NPLOC4_ENST00000331134.6_Silent_p.I186I Q8TAT6 NPL4_HUMAN nuclear protein localization 4 homolog (S. cerevisiae) 186 cellular membrane fusion|ER-associated protein catabolic process|Golgi organization cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus zinc ion binding central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1) 11 all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739) TCTTGCAGCTGATGTTCTCCA 0.507000 4 21 0 0 0.00024832 0 0 AOC1 26 broad.mit.edu 37 7 150558086 150558086 + Missense_Mutation SNP T T C TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr7:150558086T>C ENST00000493429.1 + 7 2629 c.2045T>C c.(2044-2046)aTt>aCt p.I682T AOC1_ENST00000416793.2_Missense_Mutation_p.I701T|AOC1_ENST00000467291.1_Missense_Mutation_p.I682T|AOC1_ENST00000360937.4_Missense_Mutation_p.I682T|AOC1_ENST00000480582.1_3'UTR amine oxidase, copper containing 1 TCAGAGGACATTCCCAACACA 0.617000 6 52 0 0 0.00116845 0 0 PDIA4 9601 broad.mit.edu 37 7 148701084 148701084 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr7:148701084G>A ENST00000286091.4 - 10 1972 c.1740C>T c.(1738-1740)atC>atT p.I580I NM_004911.4 NP_004902.1 P13667 PDIA4_HUMAN protein disulfide isomerase family A, member 4 580 Thioredoxin 3. cell redox homeostasis|glycerol ether metabolic process|protein secretion endoplasmic reticulum lumen|melanosome electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity large_intestine(6)|lung(15)|ovary(2)|prostate(1) 24 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00385) CCATCTTGGCGATGACCAGGC 0.597000 11 65 0 0 0.000978159 0 0 PCDHB7 56129 broad.mit.edu 37 5 140552966 140552966 + Missense_Mutation SNP G G A rs146757937 TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr5:140552966G>A ENST00000231137.3 + 1 724 c.550G>A c.(550-552)Gat>Aat p.D184N NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 184 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TAATGTCCATGATAGCGGGGA 0.478000 9 46 0 0 0.000274275 0 0 ZNF507 22847 broad.mit.edu 37 19 32844579 32844579 + Missense_Mutation SNP T T G TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr19:32844579T>G ENST00000311921.3 + 2 1035 c.843T>G c.(841-843)ttT>ttG p.F281L ZNF507_ENST00000544431.1_Missense_Mutation_p.F281L|ZNF507_ENST00000355898.5_Missense_Mutation_p.F281L|ZNF507_ENST00000587084.1_3'UTR NM_001136156.1|NM_014910.4 NP_001129628.1|NP_055725.2 Q8TCN5 ZN507_HUMAN zinc finger protein 507 281 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 31 Esophageal squamous(110;0.162) ATCCAATCTTTGAAAATGAAA 0.473000 16 102 0 0 0.000308642 0 0 RBM41 55285 broad.mit.edu 37 X 106332042 106332042 + Missense_Mutation SNP T T A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chrX:106332042T>A ENST00000372487.1 - 5 577 c.551A>T c.(550-552)gAt>gTt p.D184V RBM41_ENST00000203616.8_Missense_Mutation_p.D208V|RBM41_ENST00000372479.3_Missense_Mutation_p.D184V NM_001171080.1 NP_001164551.1 Q96IZ5 RBM41_HUMAN RNA binding motif protein 41 184 nucleotide binding|RNA binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 13 GTTCATGGGATCACCTTTGTT 0.373000 11 42 0 0 0.00185496 0 0 MICALCL 84953 broad.mit.edu 37 11 12315279 12315279 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr11:12315279G>A ENST00000256186.2 + 3 592 c.301G>A c.(301-303)Gat>Aat p.D101N NM_032867.2 NP_116256.2 Q6ZW33 MICLK_HUMAN MICAL C-terminal like 101 Interaction with MAPK1 (By similarity). cell differentiation|multicellular organismal development|spermatogenesis cytoplasm mitogen-activated protein kinase binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 30 Epithelial(150;0.00177) CCCTGGTGAAGATGGCCTCTC 0.597000 13 100 0 0 0.00136819 0 0 CCDC54 84692 broad.mit.edu 37 3 107096457 107096457 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr3:107096457G>A ENST00000261058.1 + 1 270 c.23G>A c.(22-24)aGg>aAg p.R8K NM_032600.2 NP_115989.1 Q8NEL0 CCD54_HUMAN coiled-coil domain containing 54 8 NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 19 CACACCAAAAGGGTAAAAGCT 0.398000 11 72 0 0 0.00185496 0 0 ATG2B 55102 broad.mit.edu 37 14 96761443 96761443 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr14:96761443C>T ENST00000359933.4 - 36 6173 c.5280G>A c.(5278-5280)aaG>aaA p.K1760K ATG2B_ENST00000261834.5_5'UTR NM_018036.5 NP_060506.5 Q96BY7 ATG2B_HUMAN autophagy related 2B 1760 breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7) 64 all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155) Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244) GATTTGGCTCCTTTGAGGTAC 0.408000 13 84 0 0 0.00244969 0 0 HOXA3 3200 broad.mit.edu 37 7 27148122 27148122 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr7:27148122C>T ENST00000396352.4 - 3 943 c.744G>A c.(742-744)aaG>aaA p.K248K HOXA3_ENST00000317201.2_Silent_p.K248K|HOXA-AS2_ENST00000518088.1_RNA NM_030661.4 NP_109377.1 O43365 HXA3_HUMAN homeobox A3 248 angiogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1) 29 CCTTCTGATCCTTTTTGTACT 0.597000 20 82 0 0 0.00121646 0 0 SCN5A 6331 broad.mit.edu 37 3 38603945 38603945 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr3:38603945G>A ENST00000413689.1 - 22 4117 c.3924C>T c.(3922-3924)ctC>ctT p.L1308L SCN5A_ENST00000425664.1_Silent_p.L1308L|SCN5A_ENST00000449557.2_Silent_p.L1254L|SCN5A_ENST00000423572.2_Silent_p.L1307L|SCN5A_ENST00000451551.2_Silent_p.L1254L|SCN5A_ENST00000450102.2_Silent_p.L1254L|SCN5A_ENST00000455624.2_Silent_p.L1307L|SCN5A_ENST00000443581.1_Silent_p.L1307L|SCN5A_ENST00000414099.2_Silent_p.L1308L|SCN5A_ENST00000333535.4_Silent_p.L1308L NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 1308 L -> F (associated with I-232 in a case of lidocaine-induced Brugada syndrome; dbSNP:rs41313031). blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) TCAGAGGACGGAGTGCACGCA 0.637000 4 17 0 0 0.00024832 0 0 ARHGEF3 50650 broad.mit.edu 37 3 56779477 56779477 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr3:56779477C>T ENST00000413728.2 - 7 1187 c.644G>A c.(643-645)aGc>aAc p.S215N ARHGEF3_ENST00000495373.1_Missense_Mutation_p.S209N|ARHGEF3_ENST00000497267.1_Missense_Mutation_p.S180N|ARHGEF3_ENST00000496106.1_Missense_Mutation_p.S215N|ARHGEF3_ENST00000296315.3_Missense_Mutation_p.S209N|ARHGEF3_ENST00000338458.4_Missense_Mutation_p.S241N NM_001128616.1 NP_001122088.1 Q9NR81 ARHG3_HUMAN Rho guanine nucleotide exchange factor (GEF) 3 209 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|Rho protein signal transduction cytosol Rho guanyl-nucleotide exchange factor activity cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1) 25 KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193) ATCATAGGAGCTGAGGCAAGG 0.458000 19 112 0 0 0.00121646 0 0 TRIM2 23321 broad.mit.edu 37 4 154217084 154217084 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr4:154217084G>A ENST00000338700.5 + 6 1471 c.1406G>A c.(1405-1407)gGg>gAg p.G469E TRIM2_ENST00000494872.1_3'UTR|TRIM2_ENST00000437508.2_Missense_Mutation_p.G442E NM_015271.3 NP_056086.2 Q9C040 TRIM2_HUMAN tripartite motif containing 2 442 cytoplasm zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1) 19 all_hematologic(180;0.093) Medulloblastoma(177;0.00225) GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703) AAGTCCCCGGGGAGCGGCCAC 0.537000 9 37 0 0 0.000442599 0 0 RYR1 6261 broad.mit.edu 37 19 38948139 38948139 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr19:38948139C>T ENST00000355481.4 + 17 1925 c.1794C>T c.(1792-1794)gtC>gtT p.V598V RYR1_ENST00000359596.3_Silent_p.V598V|RYR1_ENST00000360985.3_Silent_p.V598V NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 598 B30.2/SPRY 1. 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) ACCTCTAGGTCCTGGACGTGC 0.552000 41 178 0 0 0.000781405 0 0 HEATR3 55027 broad.mit.edu 37 16 50102755 50102755 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr16:50102755C>T ENST00000299192.7 + 3 567 c.376C>T c.(376-378)Cct>Tct p.P126S HEATR3_ENST00000285767.4_Missense_Mutation_p.P40S NM_182922.2 NP_891552.1 Q7Z4Q2 HEAT3_HUMAN HEAT repeat containing 3 126 binding cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 TATCATGACCCCTCTGGTTGC 0.378000 12 181 0 0 0.000308642 0 0 TRIM33 51592 broad.mit.edu 37 1 114964156 114964156 + Missense_Mutation SNP G G C TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:114964156G>C ENST00000358465.2 - 11 2046 c.1963C>G c.(1963-1965)Cga>Gga p.R655G TRIM33_ENST00000369543.2_Missense_Mutation_p.R655G|TRIM33_ENST00000450349.2_Missense_Mutation_p.R263G NM_015906.3 NP_056990.3 Q9UPN9 TRI33_HUMAN tripartite motif containing 33 655 negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent nucleus co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 48 all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184) all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) GTGGGACCTCGGTTTGCATTT 0.507000 T RET papillary thyroid 19 82 0 0 0.000958276 0 0 CEACAM1 634 broad.mit.edu 37 19 43031406 43031406 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr19:43031406C>T ENST00000161559.6 - 2 345 c.211G>A c.(211-213)Gaa>Aaa p.E71K LIPE-AS1_ENST00000594624.2_RNA|CEACAM1_ENST00000351134.3_Missense_Mutation_p.E71K|CEACAM1_ENST00000308072.4_Missense_Mutation_p.E31K|LIPE-AS1_ENST00000594688.1_RNA|CEACAM1_ENST00000403444.3_Missense_Mutation_p.E71K|CEACAM1_ENST00000352591.5_Missense_Mutation_p.E71K|CEACAM1_ENST00000599389.1_Missense_Mutation_p.E71K|CEACAM1_ENST00000358394.3_Missense_Mutation_p.E71K|CEACAM1_ENST00000403461.1_Missense_Mutation_p.E71K NM_001712.4 NP_001703.2 P13688 CEAM1_HUMAN carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein) 71 Ig-like V-type. angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway extracellular region|integral to plasma membrane|membrane fraction breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 17 Prostate(69;0.00682) GBM - Glioblastoma multiforme(486;0.00148) Arcitumomab(DB00113) TCCACTCTTTCCCCTTTGTAC 0.493000 8 200 0 0 0.000673444 0 0 ASTN1 460 broad.mit.edu 37 1 176983946 176983946 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:176983946C>T ENST00000367654.2 - 8 1541 c.1528G>A c.(1528-1530)Gaa>Aaa p.E510K ASTN1_ENST00000361833.2_Missense_Mutation_p.E502K|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Missense_Mutation_p.E502K|ASTN1_ENST00000424564.2_Missense_Mutation_p.E502K O14525 ASTN1_HUMAN astrotactin 1 510 cell migration|neuron cell-cell adhesion integral to membrane p.E502K(1) NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 GTCCCCCATTCGTTCCGAATG 0.493000 56 252 0 0 0.000781405 0 0 YOD1 55432 broad.mit.edu 37 1 207222387 207222387 + Missense_Mutation SNP T T C TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:207222387T>C ENST00000367084.1 - 4 1097 c.893A>G c.(892-894)cAt>cGt p.H298R YOD1_ENST00000315927.4_Missense_Mutation_p.H342R|YOD1_ENST00000391927.1_Missense_Mutation_p.H298R NM_001276320.1 NP_001263249.1 Q5VVQ6 OTU1_HUMAN YOD1 deubiquitinase 342 cellular amino acid metabolic process|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein K48-linked deubiquitination|protein K63-linked deubiquitination intracellular protein binding|ubiquitin-specific protease activity|zinc ion binding cervix(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(3) 11 Prostate(682;0.19) AAAGTTGGTATGGCCTGTCTC 0.468000 19 174 0 0 0.00229938 0 0 ZNF280A 129025 broad.mit.edu 37 22 22868460 22868460 + Nonsense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr22:22868460G>A ENST00000302097.3 - 2 1747 c.1495C>T c.(1495-1497)Cag>Tag p.Q499* NM_080740.3 NP_542778.1 P59817 Z280A_HUMAN zinc finger protein 280A 499 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 18 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22) READ - Rectum adenocarcinoma(21;0.145) GATCCTGGCTGAACTGAAGTT 0.413000 9 76 0 0 0.000274275 0 0 ANK3 288 broad.mit.edu 37 10 61802491 61802491 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr10:61802491C>T ENST00000280772.1 - 43 13283 c.13092G>A c.(13090-13092)acG>acA p.T4364T ANK3_ENST00000373827.2_Silent_p.T1848T|ANK3_ENST00000503366.1_Silent_p.T1855T|ANK3_ENST00000355288.2_Silent_p.T988T NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 4364 establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 TTTCTTTCTTCGTTTTCACCT 0.398000 13 94 0 0 0.00185496 0 0 ASIC2 40 broad.mit.edu 37 17 31439043 31439043 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr17:31439043C>T ENST00000225823.2 - 2 1623 c.751G>A c.(751-753)Gag>Aag p.E251K RP11-40A13.1_ENST00000584688.1_RNA|ASIC2_ENST00000359872.6_Missense_Mutation_p.E200K|ASIC2_ENST00000448983.1_5'UTR NM_183377.1 NP_899233.1 Q16515 ACCN1_HUMAN acid-sensing (proton-gated) ion channel 2 200 central nervous system development|peripheral nervous system development|synaptic transmission integral to plasma membrane ligand-gated sodium channel activity|protein binding Amiloride(DB00594) TTGCCATCCTCGCCTGAGTTA 0.532000 6 38 0 0 0.00116845 0 0 GORASP2 26003 broad.mit.edu 37 2 171819405 171819405 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr2:171819405C>T ENST00000234160.4 + 9 1782 c.967C>T c.(967-969)Cca>Tca p.P323S GORASP2_ENST00000452526.2_Missense_Mutation_p.P335S|GORASP2_ENST00000493692.1_3'UTR NM_001201428.1|NM_015530.4 NP_001188357.1|NP_056345.3 Q9H8Y8 GORS2_HUMAN golgi reassembly stacking protein 2, 55kDa 323 Pro-rich. Golgi membrane breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1) 14 CCTCAACCTCCCAGCACCACA 0.473000 8 44 0 0 0.000978159 0 0 NUP210L 91181 broad.mit.edu 37 1 154033425 154033425 + Missense_Mutation SNP T T G TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:154033425T>G ENST00000368559.3 - 19 2812 c.2741A>C c.(2740-2742)gAt>gCt p.D914A NUP210L_ENST00000271854.3_Missense_Mutation_p.D914A NM_207308.2 NP_997191.2 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like 914 integral to membrane NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2) 80 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) TACCTTTACATCAGGGTGGTT 0.368000 16 133 0 0 0.000566183 0 0 EGFL6 25975 broad.mit.edu 37 X 13636018 13636018 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chrX:13636018C>T ENST00000361306.1 + 8 1205 c.948C>T c.(946-948)ttC>ttT p.F316F EGFL6_ENST00000380602.3_Silent_p.F316F NM_001167890.1|NM_015507.3 NP_001161362.1|NP_056322.2 Q8IUX8 EGFL6_HUMAN EGF-like-domain, multiple 6 316 cell adhesion|cell cycle|cell differentiation|multicellular organismal development basement membrane|extracellular space|membrane calcium ion binding|integrin binding p.F316L(2) breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3) 23 TGCAGCCCTTCAACTATGAAG 0.433000 22 36 0 0 0.000720815 0 0 TSC1 7248 broad.mit.edu 37 9 135777078 135777078 + Silent SNP C C A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr9:135777078C>A ENST00000298552.3 - 19 2621 c.2400G>T c.(2398-2400)ctG>ctT p.L800L TSC1_ENST00000440111.2_Silent_p.L800L|TSC1_ENST00000545250.1_Silent_p.L749L NM_000368.4|NM_001162426.1|NM_001162427.1 NP_000359.1|NP_001155898.1|NP_001155899.1 Q92574 TSC1_HUMAN tuberous sclerosis 1 800 activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus cell cortex|lamellipodium|membrane|TSC1-TSC2 complex chaperone binding|protein N-terminus binding p.?(1) NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 65 OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06) TGCAGTCCTCCAGCTTCGTCT 0.537000 """D, Mis, N, F, S""" """hamartoma, renal cell""" Tuberous Sclerosis OREG0019577 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 180 0.00116845 0.00453961 0.00116845 1 0 OR5AS1 219447 broad.mit.edu 37 11 55798785 55798785 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr11:55798785G>A ENST00000313555.1 + 1 891 c.891G>A c.(889-891)gtG>gtA p.V297V NM_001001921.1 NP_001001921.1 Q8N127 O5AS1_HUMAN olfactory receptor, family 5, subfamily AS, member 1 297 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1) 48 Esophageal squamous(21;0.00693) ACAAGGATGTGAAAAATGCTC 0.313000 6 43 0 0 0.00116845 0 0 MAGEE2 139599 broad.mit.edu 37 X 75004550 75004550 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chrX:75004550C>T ENST00000373359.2 - 1 529 c.337G>A c.(337-339)Gag>Aag p.E113K NM_138703.4 NP_619648.1 Q8TD90 MAGE2_HUMAN melanoma antigen family E, 2 113 MAGE 1. autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 TCCAGCATCTCGGACTGCTGG 0.532000 10 15 0 0 0.000442599 0 0 COL13A1 1305 broad.mit.edu 37 10 71654450 71654450 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr10:71654450G>A ENST00000356340.3 + 10 1159 c.623G>A c.(622-624)gGa>gAa p.G208E COL13A1_ENST00000398978.3_Missense_Mutation_p.G208E|COL13A1_ENST00000357811.3_Missense_Mutation_p.G208E|COL13A1_ENST00000354547.3_Missense_Mutation_p.G208E|COL13A1_ENST00000398966.3_Missense_Mutation_p.G208E|COL13A1_ENST00000522165.1_Missense_Mutation_p.G208E|COL13A1_ENST00000398964.3_Missense_Mutation_p.G179E|COL13A1_ENST00000398969.3_Missense_Mutation_p.G170E|COL13A1_ENST00000520267.1_Missense_Mutation_p.G170E|COL13A1_ENST00000398974.3_Missense_Mutation_p.G196E|COL13A1_ENST00000517713.1_Missense_Mutation_p.G208E|COL13A1_ENST00000398968.3_Missense_Mutation_p.G208E|COL13A1_ENST00000398973.3_Missense_Mutation_p.G208E|COL13A1_ENST00000520133.1_Missense_Mutation_p.G179E|COL13A1_ENST00000398972.3_Missense_Mutation_p.G208E|COL13A1_ENST00000398971.3_Missense_Mutation_p.G208E Q5TAT6 CODA1_HUMAN collagen, type XIII, alpha 1 208 Triple-helical region 1 (COL1). cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure collagen type XIII|integral to membrane extracellular matrix structural constituent|heparin binding|protein binding p.G191E(1)|p.G208E(1) endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 28 Atorvastatin(DB01076)|Simvastatin(DB00641) GGACAAAAAGGAGAAAAGGTA 0.463000 14 55 0 0 0.000958276 0 0 ADAMTS5 11096 broad.mit.edu 37 21 28327191 28327191 + Splice_Site SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr21:28327191C>T ENST00000284987.5 - 2 1226 c.e2-1 NM_007038.3 NP_008969.2 Q9UNA0 ATS5_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 5 proteolysis proteinaceous extracellular matrix integrin binding|metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 72 CACATAAATCCTGCCCAGGAG 0.478000 12 29 0 0 0.00136819 0 0 DNAH7 56171 broad.mit.edu 37 2 196759936 196759936 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr2:196759936C>T ENST00000312428.6 - 30 4760 c.4660G>A c.(4660-4662)Gat>Aat p.D1554N NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 1554 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 GGAAACAAATCCGAAGTAATT 0.313000 7 23 0 0 0.00198382 0 0 IGHV4OR15-8 28317 broad.mit.edu 37 15 22473063 22473063 + RNA SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr15:22473063C>T ENST00000557788.2 - 0 207 TGATAGATTTCCCCAATCCAC 0.567000 14 156 0 0 0.00244969 0 0 SLC13A4 26266 broad.mit.edu 37 7 135375975 135375975 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr7:135375975C>T ENST00000354042.4 - 13 2106 c.1417G>A c.(1417-1419)Ggc>Agc p.G473S C7orf73_ENST00000422968.1_Intron NM_012450.2 NP_036582.2 Q9UKG4 S13A4_HUMAN solute carrier family 13 (sodium/sulfate symporter), member 4 473 integral to plasma membrane sodium:sulfate symporter activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2) 24 AGAGCATAGCCTCCCCCAACC 0.507000 6 70 0 0 0.00198382 0 0 ZNF318 24149 broad.mit.edu 37 6 43323411 43323411 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr6:43323411G>A ENST00000361428.2 - 4 1738 c.1661C>T c.(1660-1662)cCc>cTc p.P554L ZNF318_ENST00000318149.3_Missense_Mutation_p.P554L NM_014345.2 NP_055160.2 Q5VUA4 ZN318_HUMAN zinc finger protein 318 554 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 61 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) GCTCCCAAGGGGCTTTGGTAC 0.478000 33 181 0 0 0.0024448 0 0 CCDC178 374864 broad.mit.edu 37 18 30873194 30873194 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr18:30873194C>T ENST00000383096.3 - 12 1287 c.1105G>A c.(1105-1107)Gaa>Aaa p.E369K CCDC178_ENST00000403303.1_Missense_Mutation_p.E369K|CCDC178_ENST00000583930.1_Missense_Mutation_p.E369K|CCDC178_ENST00000300227.8_Missense_Mutation_p.E369K|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000579947.1_Missense_Mutation_p.E369K|CCDC178_ENST00000406524.2_Missense_Mutation_p.E369K|CCDC178_ENST00000402325.1_Missense_Mutation_p.E369K coiled-coil domain containing 178 ACTTCCTCTTCCTTCTCCTCA 0.294000 5 18 0 0 0.000602214 0 0 ZNF483 158399 broad.mit.edu 37 9 114305057 114305057 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr9:114305057G>A ENST00000309235.5 + 6 2000 c.1842G>A c.(1840-1842)atG>atA p.M614I ZNF483_ENST00000358151.4_Intron NM_133464.2 NP_597721.2 Q8TF39 ZN483_HUMAN zinc finger protein 483 614 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5) 31 ATTGCGGAATGACTTTTAGCC 0.408000 4 33 0 0 0.00024832 0 0 LRP1B 53353 broad.mit.edu 37 2 141986887 141986887 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr2:141986887C>T ENST00000389484.3 - 6 1686 c.715G>A c.(715-717)Gat>Aat p.D239N NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 239 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TAAATAAAATCCAGAGTATGA 0.294000 TSP Lung(27;0.18) 6 35 0 0 0.00116845 0 0 EDC4 23644 broad.mit.edu 37 16 67916928 67916928 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr16:67916928G>A ENST00000358933.5 + 27 3936 c.3697G>A c.(3697-3699)Gag>Aag p.E1233K CTC-479C5.10_ENST00000572067.1_RNA NM_014329.4 NP_055144.3 Q6P2E9 EDC4_HUMAN enhancer of mRNA decapping 4 1233 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|nucleus protein binding breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) GGCGCTCAAGGAGCAGCAGGC 0.607000 OREG0023890 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 37 0 0 0.00116845 0 0 GRM8 2918 broad.mit.edu 37 7 126086134 126086134 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr7:126086134G>A ENST00000358373.3 - 10 3286 c.2723C>T c.(2722-2724)tCc>tTc p.S908F GRM8_ENST00000339582.2_Intron|GRM8_ENST00000444921.2_Intron NM_001127323.1 NP_001120795.1 O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 0 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) CATCTATTAGGAAGTGCTCCC 0.458000 HNSCC(24;0.065) 3 16 0 0 6.4e-05 0 0 PRG4 10216 broad.mit.edu 37 1 186276833 186276833 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:186276833C>T ENST00000445192.2 + 7 2027 c.1982C>T c.(1981-1983)cCt>cTt p.P661L PRG4_ENST00000367486.3_Missense_Mutation_p.P618L|PRG4_ENST00000367483.4_Missense_Mutation_p.P620L|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Missense_Mutation_p.P568L NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 661 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CCCACCACCCCTGAGGAGCCT 0.667000 10 31 0 0 0.000442599 0 0 IGHV1-46 28465 broad.mit.edu 37 14 106967211 106967211 + RNA SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr14:106967211C>T ENST00000390622.2 - 0 492 TCCACTCAAGCCCTTGTCCAG 0.552000 15 91 0 0 0.000308642 0 0 CLDN4 1364 broad.mit.edu 37 7 73245625 73245625 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr7:73245625G>A ENST00000435050.1 + 2 2774 c.94G>A c.(94-96)Gtg>Atg p.V32M CLDN4_ENST00000340958.2_Missense_Mutation_p.V32M|CLDN4_ENST00000431918.1_Missense_Mutation_p.V32M O14493 CLD4_HUMAN claudin 4 32 calcium-independent cell-cell adhesion integral to plasma membrane|tight junction identical protein binding|structural molecule activity|transmembrane receptor activity kidney(2)|lung(4)|urinary_tract(1) 7 Lung NSC(55;0.159) CATGTGGCGCGTGACGGCCTT 0.632000 8 50 0 0 0.000157383 0 0 PAPL 390928 broad.mit.edu 37 19 39589716 39589716 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr19:39589716C>T ENST00000331256.5 + 4 713 c.439C>T c.(439-441)Ccg>Tcg p.P147S PAPL_ENST00000594229.1_Missense_Mutation_p.P147S NM_001004318.2 NP_001004318.2 Q6ZNF0 PAPL_HUMAN 147 extracellular region acid phosphatase activity|metal ion binding GGCTGACAACCCGAAGGCCGT 0.687000 12 92 0 0 0.000308642 0 0 SYT8 90019 broad.mit.edu 37 11 1858224 1858224 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr11:1858224G>A ENST00000341958.3 + 7 1130 c.828G>A c.(826-828)agG>agA p.R276R SYT8_ENST00000381968.3_Silent_p.R290R|SYT8_ENST00000535046.1_3'UTR Q8NBV8 SYT8_HUMAN synaptotagmin VIII 290 C2 2. acrosomal vesicle|integral to membrane|plasma membrane|synaptic vesicle transporter activity breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1) 6 all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) TGAACCAGAGGAAGTGGAAGA 0.632000 12 56 0 0 0.000978159 0 0 MICAL3 57553 broad.mit.edu 37 22 18364025 18364025 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr22:18364025G>A ENST00000429452.1 - 17 2638 c.2286C>T c.(2284-2286)atC>atT p.I762I MICAL3_ENST00000585038.1_Silent_p.I762I|MICAL3_ENST00000441493.2_Intron|MICAL3_ENST00000207726.7_Intron|MICAL3_ENST00000444520.1_Intron|MICAL3_ENST00000414725.2_Intron|MICAL3_ENST00000400561.2_Intron|MICAL3_ENST00000383094.3_Intron NM_001136004.1 NP_001129476.1 Q7RTP6 MICA3_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 3 1249 LIM zinc-binding. cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 4 all_epithelial(15;0.198) Lung(27;0.0427) GAGACAGGGTGATCACTTTTT 0.547000 22 142 0 0 0.000586117 0 0 IGSF21 84966 broad.mit.edu 37 1 18554492 18554492 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:18554492C>T ENST00000251296.1 + 2 554 c.171C>T c.(169-171)atC>atT p.I57I NM_032880.4 NP_116269.3 Q96ID5 IGS21_HUMAN immunoglobin superfamily, member 21 57 Ig-like 1. extracellular region endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 40 Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157) TGCGGGAGATCGTGTGGTACC 0.587000 7 49 0 0 0.000157383 0 0 SCN10A 6336 broad.mit.edu 37 3 38755522 38755522 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr3:38755522G>A ENST00000449082.2 - 21 3730 c.3731C>T c.(3730-3732)gCt>gTt p.A1244V NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 1244 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) TTTGATGGGAGCCACTTCAGA 0.502000 14 102 0 0 0.000308642 0 0 IFNE 338376 broad.mit.edu 37 9 21481125 21481125 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr9:21481125C>T ENST00000448696.3 - 1 1187 c.569G>A c.(568-570)gGa>gAa p.G190E MIR31HG_ENST00000304425.3_RNA NM_176891.4 NP_795372.1 Q86WN2 IFNE_HUMAN interferon, epsilon 190 defense response|response to virus extracellular space cytokine activity|cytokine receptor binding large_intestine(2)|lung(1)|skin(1) 4 CAAGGGTCTTCCTTGTTTGCT 0.473000 18 140 0 0 0.000958276 0 0 SPHKAP 80309 broad.mit.edu 37 2 228858297 228858297 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr2:228858297C>T ENST00000392056.3 - 9 4720 c.4674G>A c.(4672-4674)atG>atA p.M1558I SPHKAP_ENST00000344657.5_Intron NM_001142644.1 NP_001136116.1 Q2M3C7 SPKAP_HUMAN SPHK1 interactor, AKAP domain containing 1558 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) TGTCCAGATCCATAATGCCAA 0.443000 3 9 0 0 0.00024832 0 0 CACNB2 783 broad.mit.edu 37 10 18825093 18825093 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr10:18825093G>A ENST00000396576.2 + 11 1606 c.1105G>A c.(1105-1107)Gta>Ata p.V369I CACNB2_ENST00000324631.7_Missense_Mutation_p.V424I|CACNB2_ENST00000377331.2_Missense_Mutation_p.V372I|CACNB2_ENST00000377329.4_Missense_Mutation_p.V370I|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000377328.1_Missense_Mutation_p.V174I|CACNB2_ENST00000352115.6_Missense_Mutation_p.V400I|CACNB2_ENST00000377315.4_Missense_Mutation_p.V376I|CACNB2_ENST00000282343.8_Missense_Mutation_p.V396I|CACNB2_ENST00000377319.3_Missense_Mutation_p.V331I NM_000724.3 NP_000715.2 Q08289 CACB2_HUMAN calcium channel, voltage-dependent, beta 2 subunit 424 axon guidance|neuromuscular junction development integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2) 31 Magnesium Sulfate(DB00653)|Verapamil(DB00661) CGTCCAGATGGTAGCAGCTGA 0.333000 4 22 0 0 0.00024832 0 0 SYCP1 6847 broad.mit.edu 37 1 115399263 115399263 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:115399263G>A ENST00000369522.3 + 3 418 c.178G>A c.(178-180)Gaa>Aaa p.E60K SYCP1_ENST00000369518.1_Missense_Mutation_p.E60K NM_003176.2 NP_003167.2 Q15431 SYCP1_HUMAN synaptonemal complex protein 1 60 Asp/Glu-rich (acidic). cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly DNA binding RGS22/SYCP1(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 Lung SC(450;0.211) all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) CAAAAATGGGGAAAACATTGA 0.318000 9 67 0 0 0.000978159 0 0 CD93 22918 broad.mit.edu 37 20 23065859 23065859 + Missense_Mutation SNP T T A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr20:23065859T>A ENST00000246006.4 - 1 1118 c.971A>T c.(970-972)aAa>aTa p.K324I NM_012072.3 NP_036204.2 Q9NPY3 C1QR1_HUMAN CD93 molecule 324 EGF-like 2. cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis plasma membrane calcium ion binding|complement component C1q binding|receptor activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118) CGTGTAGTTTTTCCCATGGGG 0.637000 5 51 0 0 0.000602214 0 0 WTIP 126374 broad.mit.edu 37 19 34981317 34981317 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr19:34981317C>T ENST00000590071.2 + 2 1041 c.704C>T c.(703-705)gCc>gTc p.A235V WTIP_ENST00000270288.6_Missense_Mutation_p.A459V NM_001080436.1 NP_001073905.1 Wilms tumor 1 interacting protein NS(1)|large_intestine(2)|lung(1) 4 all_lung(56;5.94e-07)|Lung NSC(56;9.35e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.211) ATCTACGGAGCCCAGCAGGCG 0.587000 6 60 0 0 0.00198382 0 0 OR14K1 343170 broad.mit.edu 37 1 247902183 247902183 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:247902183C>T ENST00000283225.2 + 1 267 c.267C>T c.(265-267)tcC>tcT p.S89S RP11-634B7.4_ENST00000449298.1_RNA olfactory receptor, family 14, subfamily K, member 1 NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|lung(18)|ovary(1)|urinary_tract(1) 27 CCACTGACTCCATCTCCTTCC 0.507000 8 37 0 0 0.000274275 0 0 FOCAD 54914 broad.mit.edu 37 9 20926395 20926395 + Missense_Mutation SNP A A T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr9:20926395A>T ENST00000380249.1 + 28 3421 c.3057A>T c.(3055-3057)caA>caT p.Q1019H FOCAD_ENST00000338382.6_Missense_Mutation_p.Q1019H|FOCAD_ENST00000605086.1_Missense_Mutation_p.Q455H NM_017794.3 NP_060264.3 Q5VW36 K1797_HUMAN focadhesin 1019 integral to membrane binding CCAGAGGGCAACTTCTCTCCT 0.373000 14 70 0 0 0.00244969 0 0 NUP35 129401 broad.mit.edu 37 2 184024281 184024281 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr2:184024281C>T ENST00000295119.4 + 8 907 c.804C>T c.(802-804)atC>atT p.I268I NUP35_ENST00000541912.1_Silent_p.I133I|NUP35_ENST00000409798.1_Silent_p.I251I NM_138285.3 NP_612142.2 Q8NFH5 NUP53_HUMAN nucleoporin 35kDa 268 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction intermediate filament cytoskeleton|nuclear membrane|nuclear pore|plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2) 8 CACCACCAATCAAAACTCTAG 0.398000 8 53 0 0 0.000157383 0 0 C2CD2 25966 broad.mit.edu 37 21 43342110 43342110 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr21:43342110C>T ENST00000380486.3 - 3 704 c.463G>A c.(463-465)Gac>Aac p.D155N C2CD2_ENST00000329623.7_5'UTR NM_015500.1 NP_056315.1 Q9Y426 CU025_HUMAN C2 calcium-dependent domain containing 2 155 cytosol|extracellular region|nucleus endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1) 15 AGCCGCATGTCGTACAGCCGG 0.542000 10 35 0 0 0.00244969 0 0 TPSD1 23430 broad.mit.edu 37 16 1306606 1306606 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr16:1306606C>T ENST00000211076.3 + 2 320 c.172C>T c.(172-174)Cgc>Tgc p.R58C TPSD1_ENST00000397534.2_Missense_Mutation_p.R51C NM_012217.2 NP_036349.1 Q9BZJ3 TRYD_HUMAN tryptase delta 1 58 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3) 20 Hepatocellular(780;0.00369) CCTGAGAGTCCGCGGCCCATA 0.692000 15 77 0 0 0.000422831 0 0 OS9 10956 broad.mit.edu 37 12 58110498 58110498 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr12:58110498C>T ENST00000315970.7 + 9 1057 c.1016C>T c.(1015-1017)gCa>gTa p.A339V OS9_ENST00000389146.6_Missense_Mutation_p.A339V|OS9_ENST00000551035.1_Missense_Mutation_p.A307V|OS9_ENST00000389142.5_Missense_Mutation_p.A339V|RP11-571M6.7_ENST00000549477.1_RNA|OS9_ENST00000552285.1_Missense_Mutation_p.A339V|OS9_ENST00000257966.8_Missense_Mutation_p.A340V|OS9_ENST00000435406.2_Missense_Mutation_p.A287V|OS9_ENST00000413095.2_Intron|OS9_ENST00000439210.2_Missense_Mutation_p.A280V NM_001017958.2|NM_006812.3 NP_001017958.1|NP_006803.1 Q13438 OS9_HUMAN osteosarcoma amplified 9, endoplasmic reticulum lectin 339 ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex glycoprotein binding|protein binding|sugar binding autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 21 all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122) BRCA - Breast invasive adenocarcinoma(9;0.109) AGCCCTGAGGCAGCAGATTCA 0.507000 15 109 0 0 0.000566183 0 0 FAM3C 10447 broad.mit.edu 37 7 121004237 121004237 + Missense_Mutation SNP A A C TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr7:121004237A>C ENST00000359943.3 - 6 491 c.278T>G c.(277-279)aTg>aGg p.M93R NM_001040020.1|NM_014888.2 NP_001035109.1|NP_055703.1 Q92520 FAM3C_HUMAN family with sequence similarity 3, member C 93 multicellular organismal development cytoplasmic membrane-bounded vesicle|extracellular region cytokine activity kidney(1)|lung(8) 9 all_neural(327;0.117) AACACCACTCATTAAACTGAA 0.279000 23 38 0 0 0.000720815 0 0 ZC3HC1 51530 broad.mit.edu 37 7 129688901 129688901 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr7:129688901G>A ENST00000358303.4 - 2 314 c.230C>T c.(229-231)gCc>gTc p.A77V ZC3HC1_ENST00000311873.5_Missense_Mutation_p.A56V|ZC3HC1_ENST00000481503.1_Missense_Mutation_p.A77V|ZC3HC1_ENST00000360708.5_Missense_Mutation_p.A77V NM_016478.3 NP_057562.3 Q86WB0 NIPA_HUMAN zinc finger, C3HC-type containing 1 77 cell division|mitosis nucleus protein kinase binding|zinc ion binding endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1) 22 Melanoma(18;0.0435) GCTAAAGAAGGCTTCTTTGCT 0.413000 13 145 0 0 0.00185496 0 0 SLC35F5 80255 broad.mit.edu 37 2 114501364 114501364 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr2:114501364G>A ENST00000245680.2 - 6 901 c.488C>T c.(487-489)cCt>cTt p.P163L SLC35F5_ENST00000409342.1_Missense_Mutation_p.P157L NM_025181.2 NP_079457.2 Q8WV83 S35F5_HUMAN solute carrier family 35, member F5 163 transport integral to membrane endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1) 20 CACATACAGAGGTTCACTCTG 0.323000 20 118 0 0 0.00188189 0 0 TUBGCP5 114791 broad.mit.edu 37 15 22855144 22855144 + Silent SNP C C T rs61738868 byFrequency TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr15:22855144C>T ENST00000283645.4 + 13 1735 c.1605C>T c.(1603-1605)tcC>tcT p.S535S TUBGCP5_ENST00000453949.2_Silent_p.S535S|TUBGCP5_ENST00000559846.1_3'UTR NM_052903.4 NP_443135.3 Q96RT8 GCP5_HUMAN tubulin, gamma complex associated protein 5 535 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1) 46 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949) GTGCGAGTTCCGGCAGTGACC 0.478000 12 48 0 0 0.00136819 0 0 EPHB2 2048 broad.mit.edu 37 1 23191389 23191389 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:23191389G>A ENST00000400191.3 + 5 1005 c.987G>A c.(985-987)caG>caA p.Q329Q EPHB2_ENST00000374632.3_Silent_p.Q329Q|EPHB2_ENST00000465676.1_3'UTR|EPHB2_ENST00000374630.3_Silent_p.Q329Q|EPHB2_ENST00000544305.1_Silent_p.Q329Q|EPHB2_ENST00000374627.1_Silent_p.Q323Q NM_004442.6|NM_017449.3 NP_004433.2|NP_059145.2 P29323 EPHB2_HUMAN EPH receptor B2 329 Fibronectin type-III 1. axon guidance integral to plasma membrane ATP binding|transmembrane-ephrin receptor activity NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1) 56 Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258) UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153) CCGCGCCCCAGGCTGTGATTT 0.637000 17 67 0 0 0.000566183 0 0 UBQLN3 50613 broad.mit.edu 37 11 5530614 5530614 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr11:5530614C>T ENST00000311659.4 - 2 322 c.175G>A c.(175-177)Gat>Aat p.D59N HBG2_ENST00000380259.2_Intron NM_017481.2 NP_059509.1 Q9H347 UBQL3_HUMAN ubiquilin 3 59 Ubiquitin-like. p.D59N(1) NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ACAAGCTGATCGGGGTGGGCC 0.502000 23 140 0 0 0.000586117 0 0 IMPAD1 54928 broad.mit.edu 37 8 57878841 57878841 + Silent SNP G G A rs141898546 byFrequency TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr8:57878841G>A ENST00000262644.4 - 4 975 c.717C>T c.(715-717)atC>atT p.I239I NM_017813.4 NP_060283.3 Q9NX62 IMPA3_HUMAN inositol monophosphatase domain containing 1 239 Golgi apparatus|integral to membrane inositol-1(or 4)-monophosphatase activity|metal ion binding kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1) 7 all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448) GAGACACAACGATCCTTGGGG 0.458000 21 73 0 0 0.00152264 0 0 OR6C2 341416 broad.mit.edu 37 12 55846720 55846720 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr12:55846720C>T ENST00000322678.1 + 1 723 c.723C>T c.(721-723)tcC>tcT p.S241S RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA NM_054105.1 NP_473446.1 Q9NZP2 OR6C2_HUMAN olfactory receptor, family 6, subfamily C, member 2 241 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 23 CCTGTTCATCCCACATGATTG 0.418000 6 52 0 0 0.00116845 0 0 TRIM6-TRIM34 445372 broad.mit.edu 37 11 5664746 5664746 + Missense_Mutation SNP C C T rs148404455 byFrequency TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr11:5664746C>T ENST00000354852.5 + 14 2509 c.2336C>T c.(2335-2337)tCc>tTc p.S779F HBG2_ENST00000380259.2_Intron|TRIM6-TRIM34_ENST00000457787.2_Missense_Mutation_p.S425F|TRIM34_ENST00000429814.2_Missense_Mutation_p.S425F|TRIM34_ENST00000495668.1_3'UTR|TRIM34_ENST00000514226.1_Missense_Mutation_p.S425F NM_001003819.3 NP_001003819.1 B2RNG4 B2RNG4_HUMAN 779 intracellular zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1) 33 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145) TTGACTCTCTCCATGGCTGTG 0.458000 15 90 0 0 0.000308642 0 0 ERCC4 2072 broad.mit.edu 37 16 14029275 14029275 + Nonsense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr16:14029275C>T ENST00000311895.7 + 8 1495 c.1486C>T c.(1486-1488)Caa>Taa p.Q496* CTD-2135D7.2_ENST00000575137.1_RNA|CTD-2135D7.2_ENST00000570663.1_RNA NM_005236.2 NP_005227.1 Q92889 XPF_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 4 496 double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3) 38 GACCTTAACTCAAATGGTAGG 0.428000 """Mis, N, F""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 4 17 0 0 0.00024832 0 0 OR51F1 256892 broad.mit.edu 37 11 4790962 4790962 + Nonsense_Mutation SNP A A T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr11:4790962A>T ENST00000380383.1 - 1 206 c.207T>A c.(205-207)taT>taA p.Y69* OR51F1_ENST00000343430.3_Nonsense_Mutation_p.Y62*|MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron A6NLW9 A6NLW9_HUMAN olfactory receptor, family 51, subfamily F, member 1 62 integral to membrane olfactory receptor activity kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 22 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778) Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192) AGAGGAAATAATACATGGGTT 0.448000 7 24 0 0 0.000157383 0 0 XIRP2 129446 broad.mit.edu 37 2 168100390 168100390 + Nonsense_Mutation SNP A A T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr2:168100390A>T ENST00000409195.1 + 9 2577 c.2488A>T c.(2488-2490)Aag>Tag p.K830* XIRP2_ENST00000409273.1_Nonsense_Mutation_p.K608*|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Nonsense_Mutation_p.K830* NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 655 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 CATCATTGAAAAGGAAAAAAT 0.383000 7 53 0 0 0.000157383 0 0 SMG5 23381 broad.mit.edu 37 1 156233251 156233251 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:156233251G>A ENST00000361813.5 - 13 2110 c.1966C>T c.(1966-1968)Cct>Tct p.P656S SMG5_ENST00000368267.4_Intron NM_015327.2 NP_056142.2 Q9UPR3 SMG5_HUMAN SMG5 nonsense mediated mRNA decay factor 656 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|nucleus protein phosphatase 2A binding NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 48 Hepatocellular(266;0.158) TTCACAGCAGGAAGCAGACCT 0.602000 7 95 0 0 0.000157383 0 0 NPTX2 4885 broad.mit.edu 37 7 98254457 98254457 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr7:98254457C>T ENST00000265634.3 + 3 1032 c.867C>T c.(865-867)atC>atT p.I289I NM_002523.2 NP_002514.1 P47972 NPTX2_HUMAN neuronal pentraxin II 289 Pentaxin. synaptic transmission extracellular region metal ion binding|sugar binding p.I289I(2) breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 18 all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142) STAD - Stomach adenocarcinoma(171;0.215) ACAACCCCATCGAGCTGCTCA 0.662000 14 69 0 0 0.000308642 0 0 PLP1 5354 broad.mit.edu 37 X 103042837 103042837 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chrX:103042837C>T ENST00000418604.1 + 5 844 c.564C>T c.(562-564)gcC>gcT p.A188A PLP1_ENST00000361621.2_Silent_p.A153A|PLP1_ENST00000303958.2_Silent_p.A188A|PLP1_ENST00000466486.1_3'UTR NM_001128834.1 NP_001122306.1 P60201 MYPR_HUMAN proteolipid protein 1 188 cell death|synaptic transmission integral to membrane breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1) 17 AGTCTATTGCCTTCCCCAGCA 0.537000 6 46 0 0 0.000274275 0 0 RTEL1 51750 broad.mit.edu 37 20 62316916 62316916 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr20:62316916C>T ENST00000318100.4 + 15 2059 c.1232C>T c.(1231-1233)tCc>tTc p.S411F RTEL1_ENST00000508582.2_Missense_Mutation_p.S435F|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.S411F|RTEL1_ENST00000370018.3_Missense_Mutation_p.S411F|RTEL1_ENST00000360203.5_Missense_Mutation_p.S411F Q9NZ71 RTEL1_HUMAN regulator of telomere elongation helicase 1 411 DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13) Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107) AGCCCTGGTTCCCCAGCAGGG 0.652000 10 36 0 0 0.00244969 0 0 CACNA1C 775 broad.mit.edu 37 12 2224601 2224601 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr12:2224601G>A ENST00000399655.1 + 2 526 c.261G>A c.(259-261)ggG>ggA p.G87G CACNA1C_ENST00000335762.5_Silent_p.G87G|CACNA1C_ENST00000399641.1_Silent_p.G87G|CACNA1C_ENST00000344100.3_Silent_p.G87G|CACNA1C_ENST00000399617.1_Silent_p.G87G|CACNA1C_ENST00000399621.1_Silent_p.G87G|CACNA1C_ENST00000399606.1_Silent_p.G87G|CACNA1C_ENST00000399597.1_Silent_p.G87G|CACNA1C_ENST00000402845.3_Silent_p.G87G|CACNA1C_ENST00000480911.1_Silent_p.G87G|CACNA1C_ENST00000399603.1_Silent_p.G87G|CACNA1C_ENST00000347598.4_Silent_p.G87G|CACNA1C_ENST00000327702.7_Silent_p.G87G|CACNA1C_ENST00000399629.1_Silent_p.G87G|CACNA1C_ENST00000399601.1_Silent_p.G87G|CACNA1C_ENST00000399591.1_Silent_p.G87G|CACNA1C_ENST00000406454.3_Silent_p.G87G|CACNA1C_ENST00000399634.1_Silent_p.G87G|CACNA1C_ENST00000399644.1_Silent_p.G87G|CACNA1C_ENST00000399595.1_Silent_p.G87G|CACNA1C_ENST00000399649.1_Silent_p.G87G|CACNA1C_ENST00000399637.1_Silent_p.G87G|CACNA1C_ENST00000399638.1_Silent_p.G87G NM_000719.6|NM_001129829.1|NM_001129834.1 NP_000710.5|NP_001123301.1|NP_001123306.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 87 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) AGCAATATGGGAAACCCAAGA 0.657000 8 37 0 0 0.000157383 0 0 ERCC6 2074 broad.mit.edu 37 10 50740648 50740648 + Missense_Mutation SNP G G T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr10:50740648G>T ENST00000355832.5 - 2 441 c.363C>A c.(361-363)agC>agA p.S121R ERCC6-PGBD3_ENST00000515869.1_Missense_Mutation_p.S121R|PGBD3_ENST00000603152.1_Missense_Mutation_p.S121R|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.S121R NM_000124.2 NP_000115.1 Q03468 ERCC6_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6 121 base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair nucleolus|soluble fraction|transcription elongation factor complex ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 GGGAGGCACGGCTGGCCTCAT 0.572000 Direct reversal of damage;Nucleotide excision repair (NER) 7 65 5.18039e-06 2.03536e-05 0.000157383 1 0 OC90 729330 broad.mit.edu 37 8 133044207 133044207 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr8:133044207G>A ENST00000262283.5 - 16 1687 c.1588C>T c.(1588-1590)Cgg>Tgg p.R530W OC90_ENST00000443356.2_Missense_Mutation_p.R334W|OC90_ENST00000603859.1_Missense_Mutation_p.R318W|OC90_ENST00000254627.3_Missense_Mutation_p.R318W Q02509 OC90_HUMAN otoconin 90 334 lipid catabolic process|phospholipid metabolic process calcium ion binding|phospholipase A2 activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1) 37 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805) TCCGGGCACCGGGATGTCAGA 0.542000 11 81 0 0 0.000978159 0 0 ADAMTS8 11095 broad.mit.edu 37 11 130288957 130288957 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr11:130288957G>A ENST00000257359.6 - 2 1657 c.951C>T c.(949-951)ctC>ctT p.L317L NM_007037.4 NP_008968.4 Q9UP79 ATS8_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 8 317 Peptidase M12B. negative regulation of cell proliferation|proteolysis proteinaceous extracellular matrix heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 10 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213) CCTGTCTGGTGAGCAGGATGG 0.622000 14 118 0 0 0.00244969 0 0 PCDH18 54510 broad.mit.edu 37 4 138452842 138452842 + Missense_Mutation SNP G G A rs143505708 byFrequency TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr4:138452842G>A ENST00000344876.4 - 1 787 c.401C>T c.(400-402)tCt>tTt p.S134F PCDH18_ENST00000412923.2_Missense_Mutation_p.S134F|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_5'UTR NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 134 Cadherin 1. brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) AAACTGGGGAGAATTGTCATT 0.433000 4 22 0 0 0.00024832 0 0 OR5H1 26341 broad.mit.edu 37 3 97851905 97851905 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr3:97851905C>T ENST00000354565.2 + 1 364 c.364C>T c.(364-366)Cgc>Tgc p.R122C RP11-343D2.11_ENST00000508964.1_RNA NM_001005338.1 NP_001005338.1 A6NKK0 OR5H1_HUMAN olfactory receptor, family 5, subfamily H, member 1 122 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1) 34 GGCATATGATCGCTATGTAGC 0.393000 6 58 0 0 0.00198382 0 0 PRAMEF7 441871 broad.mit.edu 37 1 12980108 12980108 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:12980108G>A ENST00000361079.2 + 4 1383 c.1300G>A c.(1300-1302)Gct>Act p.A434T PRAME family member 7 endometrium(2)|kidney(5)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(2) 18 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) TGAACTTGGGGCTGAGCTGAT 0.587000 14 35 0 0 0.000422831 0 0 GSTM5 2949 broad.mit.edu 37 1 110256339 110256339 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:110256339G>A ENST00000369813.1 + 3 1098 c.193G>A c.(193-195)Gat>Aat p.D65N GSTM5_ENST00000256593.3_Missense_Mutation_p.D106N|GSTM5_ENST00000492718.1_3'UTR|GSTM5_ENST00000369812.5_Missense_Mutation_p.D125N P46439 GSTM5_HUMAN glutathione S-transferase mu 5 106 GST N-terminal. xenobiotic metabolic process endoplasmic reticulum membrane glutathione transferase activity NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2) 21 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228) Glutathione(DB00143) CCAGGTTATGGATAACCACAT 0.522000 4 30 0 0 0.00024832 0 0 DMRTA1 63951 broad.mit.edu 37 9 22451457 22451457 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr9:22451457G>A ENST00000325870.1 + 2 1287 c.1062G>A c.(1060-1062)ggG>ggA p.G354G NM_022160.2 NP_071443.2 Q5VZB9 DMRTA_HUMAN DMRT-like family A1 354 cell differentiation|sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity breast(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 15 all_cancers(5;4.09e-243)|Acute lymphoblastic leukemia(3;8.25e-150)|all_hematologic(3;4.25e-147)|Esophageal squamous(3;2.32e-09)|Renal(3;1.71e-07)|Breast(3;2.07e-06)|Hepatocellular(5;0.00563) GBM - Glioblastoma multiforme(1;5.12e-278)|Lung(24;8.2e-52)|LUSC - Lung squamous cell carcinoma(38;1.46e-37)|OV - Ovarian serous cystadenocarcinoma(39;0.0517) TCTGCAAAGGGGATGTGGTCC 0.458000 6 29 0 0 0.00198382 0 0 SPTA1 6708 broad.mit.edu 37 1 158607893 158607893 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:158607893C>T ENST00000368148.3 - 36 5299 c.5119G>A c.(5119-5121)Gaa>Aaa p.E1707K SPTA1_ENST00000368147.3_Missense_Mutation_p.E1707K NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1707 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton p.E1707K(1) NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) TTCAATTTTTCGTGGTGTGCA 0.443000 11 65 0 0 0.000978159 0 0 OR2T6 254879 broad.mit.edu 37 1 248551181 248551181 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:248551181C>T ENST00000355728.2 + 1 272 c.272C>T c.(271-273)aCc>aTc p.T91I NM_001005471.1 NP_001005471.1 Q8NHC8 OR2T6_HUMAN olfactory receptor, family 2, subfamily T, member 6 91 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GGCGAGGGGACCATCTCTTTC 0.527000 15 68 0 0 0.000422831 0 0 APOBEC4 403314 broad.mit.edu 37 1 183617323 183617323 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:183617323G>A ENST00000308641.4 - 2 865 c.594C>T c.(592-594)ctC>ctT p.L198L RGL1_ENST00000304685.3_Intron|RGL1_ENST00000367531.1_Intron|RGL1_ENST00000536277.1_Intron|APOBEC4_ENST00000481562.1_Intron NM_203454.2 NP_982279.1 Q8WW27 ABEC4_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative) 198 mRNA processing hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1) 21 TAAAGCTGTGGAGAACAGAAT 0.512000 9 74 0 0 0.000673444 0 0 MAP2K4 6416 broad.mit.edu 37 17 12016634 12016634 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr17:12016634C>T ENST00000415385.3 + 8 856 c.803C>T c.(802-804)tCt>tTt p.S268F MAP2K4_ENST00000353533.5_Missense_Mutation_p.S257F P45985 MP2K4_HUMAN mitogen-activated protein kinase kinase 4 257 Protein kinase. cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.0?(10)|p.?(1) NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163) Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681) CTTGTGGACTCTATTGCCAAG 0.448000 """D, Mis, N""" """pancreatic, breast, colorectal""" 4 27 0 0 0.00024832 0 0 PCDH15 65217 broad.mit.edu 37 10 55570341 55570341 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr10:55570341G>A ENST00000373965.2 - 35 4872 c.4478C>T c.(4477-4479)gCt>gTt p.A1493V PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.A1493V|PCDH15_ENST00000414778.1_Missense_Mutation_p.A1490V|PCDH15_ENST00000409834.1_Silent_p.L1121L|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395438.1_Silent_p.L1510L NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 0 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) TTCTTCCTCAGCTTCACCAAC 0.398000 HNSCC(58;0.16) 23 126 0 0 0.000586117 0 0 LRRC16B 90668 broad.mit.edu 37 14 24529202 24529202 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr14:24529202C>T ENST00000342740.5 + 23 2046 c.1892C>T c.(1891-1893)tCc>tTc p.S631F LRRC16B_ENST00000334420.7_5'UTR NM_138360.3 NP_612369.3 Q8ND23 LR16B_HUMAN leucine rich repeat containing 16B 631 breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 52 GBM - Glioblastoma multiforme(265;0.019) CGCTTCATGTCCTTCCCCGTG 0.647000 14 97 0 0 0.000308642 0 0 HIST1H2BM 8342 broad.mit.edu 37 6 27783082 27783082 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr6:27783082C>T ENST00000359465.4 + 1 261 c.261C>T c.(259-261)cgC>cgT p.R87R NM_003521.2 NP_003512.1 Q99879 H2B1M_HUMAN histone cluster 1, H2bm 87 nucleosome assembly nucleosome|nucleus DNA binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2) 12 ACAACAAGCGCTCGACCATCA 0.592000 7 46 0 0 0.000157383 0 0 FGFR2 2263 broad.mit.edu 37 10 123263433 123263433 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr10:123263433G>A ENST00000358487.5 - 10 1582 c.1310C>T c.(1309-1311)tCc>tTc p.S437F FGFR2_ENST00000369059.1_Missense_Mutation_p.S323F|FGFR2_ENST00000360144.3_Missense_Mutation_p.S349F|FGFR2_ENST00000457416.2_Missense_Mutation_p.S438F|FGFR2_ENST00000351936.6_Missense_Mutation_p.S435F|FGFR2_ENST00000369060.4_Missense_Mutation_p.S321F|FGFR2_ENST00000369056.1_Missense_Mutation_p.S438F|FGFR2_ENST00000369061.4_Missense_Mutation_p.S325F|FGFR2_ENST00000356226.4_Missense_Mutation_p.S320F|FGFR2_ENST00000478859.1_Missense_Mutation_p.S209F|FGFR2_ENST00000357555.5_Missense_Mutation_p.S348F|FGFR2_ENST00000346997.2_Missense_Mutation_p.S435F NM_000141.4 NP_000132.3 P21802 FGFR2_HUMAN fibroblast growth factor receptor 2 437 angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2) 181 Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107) STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722) all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845) Palifermin(DB00039) GGAGTTCATGGAGGAGCTGGA 0.552000 5 Mis """gastric. NSCLC, endometrial""" """Crouzon, Pfeiffer, and Apert syndromes""" Saethre-Chotzen syndrome;Apert syndrome 6 24 0 0 0.00116845 0 0 CLEC4A 50856 broad.mit.edu 37 12 8276533 8276533 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr12:8276533G>A ENST00000229332.5 + 1 306 c.59G>A c.(58-60)gGc>gAc p.G20D CLEC4A_ENST00000360500.3_Missense_Mutation_p.G20D|CLEC4A_ENST00000345999.3_Missense_Mutation_p.G20D|CLEC4A_ENST00000352620.3_Missense_Mutation_p.G20D NM_016184.3|NM_194447.2|NM_194450.2 NP_057268.1|NP_919429.2|NP_919432.1 Q9UMR7 CLC4A_HUMAN C-type lectin domain family 4, member A 20 cell adhesion|cell surface receptor linked signaling pathway|innate immune response integral to plasma membrane sugar binding|transmembrane receptor activity cervix(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1) 11 Kidney(36;0.0915) AAGTCCTCAGGCATCAACACA 0.418000 7 44 0 0 0.000274275 0 0 ABCA10 10349 broad.mit.edu 37 17 67187420 67187420 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr17:67187420G>A ENST00000269081.4 - 18 2817 c.1908C>T c.(1906-1908)atC>atT p.I636I ABCA10_ENST00000416101.2_3'UTR NM_080282.3 NP_525021.3 Q8WWZ4 ABCAA_HUMAN ATP-binding cassette, sub-family A (ABC1), member 10 636 transport integral to membrane ATP binding|ATPase activity p.I636M(1) breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 Breast(10;6.95e-12) TAAGGGATGTGATTTTTTCTG 0.338000 6 21 0 0 0.000157383 0 0 GLYCTK 132158 broad.mit.edu 37 3 52325015 52325015 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr3:52325015C>T ENST00000354773.4 + 3 513 c.417C>T c.(415-417)ttC>ttT p.F139F GLYCTK_ENST00000305690.8_Silent_p.F139F|GLYCTK_ENST00000477382.1_Silent_p.F139F|GLYCTK_ENST00000473032.1_Silent_p.F139F|GLYCTK_ENST00000436784.2_Silent_p.F139F|GLYCTK_ENST00000461183.1_Silent_p.F55F|GLYCTK_ENST00000471180.1_Silent_p.F12F|GLYCTK-AS1_ENST00000493616.1_RNA NM_001144951.1 NP_001138423.1 Q8IVS8 GLCTK_HUMAN glycerate kinase 139 protein phosphorylation Golgi apparatus|mitochondrion ATP binding|glycerate kinase activity|protein binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1) 9 BRCA - Breast invasive adenocarcinoma(193;3.56e-05)|Kidney(197;0.00171)|KIRC - Kidney renal clear cell carcinoma(197;0.00194)|OV - Ovarian serous cystadenocarcinoma(275;0.235) TCCAGGTATTCGAGGGTGCGG 0.627000 9 55 0 0 0.000673444 0 0 WBSCR17 64409 broad.mit.edu 37 7 70800543 70800543 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr7:70800543C>T ENST00000333538.5 + 2 880 c.246C>T c.(244-246)tcC>tcT p.S82S WBSCR17_ENST00000498380.2_3'UTR NM_022479.1 NP_071924.1 Q6IS24 GLTL3_HUMAN Williams-Beuren syndrome chromosome region 17 82 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 100 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) TAGGCTTATCCAAATCCCTTG 0.468000 10 51 0 0 0.000978159 0 0 FAT4 79633 broad.mit.edu 37 4 126240824 126240824 + Silent SNP T T G TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr4:126240824T>G ENST00000394329.3 + 1 3271 c.3258T>G c.(3256-3258)gtT>gtG p.V1086V NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 1086 Cadherin 10. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 CTGTGAATGTTACTGTAATTT 0.383000 21 138 0 0 0.00188189 0 0 CFH 3075 broad.mit.edu 37 1 196646616 196646616 + Silent SNP T T C TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:196646616T>C ENST00000367429.4 + 5 678 c.438T>C c.(436-438)tgT>tgC p.C146C CFH_ENST00000359637.2_Intron|CFH_ENST00000439155.2_Silent_p.C146C NM_000186.3 NP_000177.2 P08603 CFAH_HUMAN complement factor H 146 Sushi 3. complement activation, alternative pathway extracellular space NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 TTGTGAAGTGTTTACCAGTGA 0.338000 5 22 0 0 0.00116845 0 0 ADCY8 114 broad.mit.edu 37 8 131921973 131921973 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr8:131921973C>T ENST00000286355.5 - 6 3713 c.1621G>A c.(1621-1623)Gaa>Aaa p.E541K ADCY8_ENST00000377928.3_Missense_Mutation_p.E541K NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 541 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) CCTCCAGATTCGAGTTTGTTT 0.463000 HNSCC(32;0.087) 27 182 0 0 0.00209593 0 0 IGFBPL1 347252 broad.mit.edu 37 9 38413339 38413339 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr9:38413339G>A ENST00000377694.1 - 3 604 c.582C>T c.(580-582)tcC>tcT p.S194S NM_001007563.1 NP_001007564.1 Q8WX77 IBPL1_HUMAN insulin-like growth factor binding protein-like 1 194 Ig-like C2-type. regulation of cell growth extracellular region insulin-like growth factor binding endometrium(1)|lung(2)|upper_aerodigestive_tract(1) 4 GBM - Glioblastoma multiforme(29;0.0437)|Lung(182;0.116) TGCCCTCAGGGGACTTCGTGA 0.582000 11 44 0 0 0.000978159 0 0 FGF23 8074 broad.mit.edu 37 12 4479873 4479873 + Missense_Mutation SNP T T G TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr12:4479873T>G ENST00000237837.1 - 3 537 c.392A>C c.(391-393)cAg>cCg p.Q131P NM_020638.2 NP_065689.1 Q9GZV9 FGF23_HUMAN fibroblast growth factor 23 131 cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process extracellular space growth factor activity NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 22 Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206) GAAGTGATACTGAGGAGAGTG 0.587000 12 118 0 0 0.000308642 0 0 PRG3 10394 broad.mit.edu 37 11 57144328 57144328 + Missense_Mutation SNP A A T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr11:57144328A>T ENST00000287143.2 - 6 782 c.673T>A c.(673-675)Ttc>Atc p.F225I NM_006093.3 NP_006084.2 Q9Y2Y8 PRG3_HUMAN proteoglycan 3 225 basophil activation|histamine biosynthetic process|immune response|leukotriene biosynthetic process|negative regulation of translation|neutrophil activation|positive regulation of interleukin-8 biosynthetic process|superoxide anion generation sugar binding large_intestine(3)|lung(5)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 13 CTGGCTTAGAAGGAGCAGACG 0.602000 23 184 0 0 0.00127121 0 0 OR6K3 391114 broad.mit.edu 37 1 158686961 158686961 + Silent SNP A A C TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:158686961A>C ENST00000368146.1 - 1 992 c.993T>G c.(991-993)ggT>ggG p.G331G OR6K3_ENST00000368145.1_Silent_p.G315G Q8NGY3 OR6K3_HUMAN olfactory receptor, family 6, subfamily K, member 3 331 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1) 41 all_hematologic(112;0.0378) CTCTGTATTAACCTCCAGGCT 0.408000 4 23 0 0 0.000602214 0 0 TPTE2 93492 broad.mit.edu 37 13 20067628 20067628 + Missense_Mutation SNP C C T rs140148307 TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr13:20067628C>T ENST00000400230.2 - 2 69 c.25G>A c.(25-27)Gaa>Aaa p.E9K TPTE2_ENST00000382978.1_Missense_Mutation_p.E9K|TPTE2_ENST00000382977.4_Missense_Mutation_p.E9K|TPTE2_ENST00000457266.2_Missense_Mutation_p.E9K|TPTE2_ENST00000390680.2_Missense_Mutation_p.E9K|TPTE2_ENST00000400103.2_Missense_Mutation_p.E9K|TPTE2_ENST00000382975.4_Missense_Mutation_p.E9K|TPTE2_ENST00000255310.6_Missense_Mutation_p.E9K Q6XPS3 TPTE2_HUMAN transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 9 endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) CCTTTAAATTCGTTTGTCTGT 0.358000 14 108 0 0 0.000308642 0 0 HRASLS5 117245 broad.mit.edu 37 11 63233675 63233675 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr11:63233675C>T ENST00000540857.1 - 5 756 c.624G>A c.(622-624)aaG>aaA p.K208K HRASLS5_ENST00000539221.1_Silent_p.K218K|HRASLS5_ENST00000301790.4_Silent_p.K218K NM_001146728.1|NM_001146729.1|NM_054108.3 NP_001140200.1|NP_001140201.1|NP_473449.1 Q96KN8 HRSL5_HUMAN HRAS-like suppressor family, member 5 218 endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1) 14 TGTTGACCATCTTTTTTGTAC 0.527000 15 78 0 0 0.000308642 0 0 MYH8 4626 broad.mit.edu 37 17 10299733 10299733 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr17:10299733C>T ENST00000403437.2 - 33 4661 c.4567G>A c.(4567-4569)Gga>Aga p.G1523R CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 1523 muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 ATTTGCTTTCCTCCCTCTGCA 0.423000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 5 43 0 0 0.000602214 0 0 VPS13B 157680 broad.mit.edu 37 8 100160116 100160116 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr8:100160116C>T ENST00000395996.1 + 14 2002 c.1891C>T c.(1891-1893)Ctt>Ttt p.L631F VPS13B_ENST00000358544.2_Missense_Mutation_p.L631F|VPS13B_ENST00000357162.2_Missense_Mutation_p.L631F|VPS13B_ENST00000355155.1_Missense_Mutation_p.L631F Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 631 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) AGAGGTGGCTCTTCTGGAGGA 0.303000 18 52 0 0 0.000958276 0 0 VEGFC 7424 broad.mit.edu 37 4 177605173 177605173 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr4:177605173C>T ENST00000280193.2 - 7 1582 c.1167G>A c.(1165-1167)acG>acA p.T389T RP11-313E19.2_ENST00000509194.1_RNA|RP11-313E19.2_ENST00000504017.1_RNA NM_005429.2 NP_005420.1 P49767 VEGFC_HUMAN vascular endothelial growth factor C 389 angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway membrane|platelet alpha granule lumen chemoattractant activity|growth factor activity biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2) 41 Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397) TCTGGCGGTTCGTACATGGCC 0.418000 9 51 0 0 0.000274275 0 0 COL6A6 131873 broad.mit.edu 37 3 130284112 130284112 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr3:130284112C>T ENST00000358511.6 + 3 967 c.936C>T c.(934-936)atC>atT p.I312I COL6A6_ENST00000453409.2_Silent_p.I312I NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 312 Nonhelical region.|VWFA 2. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 GAGCTGCCATCAAAAAGCTCA 0.498000 18 90 0 0 0.000958276 0 0 SETD1A 9739 broad.mit.edu 37 16 30991855 30991855 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr16:30991855C>T ENST00000262519.8 + 15 5144 c.4458C>T c.(4456-4458)ccC>ccT p.P1486P NM_014712.1 NP_055527.1 O15047 SET1A_HUMAN SET domain containing 1A 1486 Interaction with ASH2L, RBBP5 and WDR5. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nuclear speck|Set1C/COMPASS complex histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 59 AGGATGGGCCCCGGGAGCACC 0.642000 11 79 0 0 0.00136819 0 0 ZNF80 7634 broad.mit.edu 37 3 113955853 113955853 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr3:113955853G>A ENST00000482457.2 - 1 572 c.69C>T c.(67-69)gtC>gtT p.V23V NM_007136.3 NP_009067.2 P51504 ZNF80_HUMAN zinc finger protein 80 23 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2) 32 Lung NSC(201;0.0233)|all_neural(597;0.0837) CTCCTGTGGAGACCTGCTCCT 0.532000 20 89 0 0 0.00229938 0 0 VARS2 57176 broad.mit.edu 37 6 30888877 30888877 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr6:30888877C>T ENST00000321897.5 + 15 2147 c.1515C>T c.(1513-1515)tcC>tcT p.S505S VARS2_ENST00000542001.1_Silent_p.S365S|VARS2_ENST00000541562.1_Silent_p.S535S|VARS2_ENST00000476162.1_3'UTR|VARS2_ENST00000416670.2_Silent_p.S505S Q5ST30 SYVM_HUMAN valyl-tRNA synthetase 2, mitochondrial 505 valyl-tRNA aminoacylation mitochondrion ATP binding|valine-tRNA ligase activity central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1) 46 TCAGTCCCTCCTTCCACCAGA 0.572000 5 28 0 0 0.00116845 0 0 CACNA2D3 55799 broad.mit.edu 37 3 54676166 54676166 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr3:54676166G>A ENST00000474759.1 + 11 1113 c.1065G>A c.(1063-1065)acG>acA p.T355T CACNA2D3_ENST00000288197.5_Silent_p.T355T|CACNA2D3_ENST00000490478.1_Silent_p.T261T|CACNA2D3_ENST00000415676.2_Silent_p.T355T NM_018398.2 NP_060868.2 Q8IZS8 CA2D3_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 3 355 VWFA. integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3) 59 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) TCAACCACACGGGACAAGGAA 0.413000 5 17 0 0 0.00116845 0 0 TNFRSF13B 23495 broad.mit.edu 37 17 16852210 16852210 + Missense_Mutation SNP T T G TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr17:16852210T>G ENST00000437538.2 - 2 157 c.149A>C c.(148-150)cAc>cCc p.H50P TNFRSF13B_ENST00000581616.2_5'UTR|TNFRSF13B_ENST00000579315.1_Missense_Mutation_p.H96P|TNFRSF13B_ENST00000583789.1_Missense_Mutation_p.H50P|TNFRSF13B_ENST00000261652.2_Missense_Mutation_p.H96P O14836 TR13B_HUMAN tumor necrosis factor receptor superfamily, member 13B 96 cell surface receptor linked signaling pathway integral to plasma membrane protein binding|receptor activity endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1) 16 TTGCTTAGGGTGCTGTCCACA 0.532000 IgA Deficiency, Selective 14 93 0 0 0.00185496 0 0 BCL7B 9275 broad.mit.edu 37 7 72954261 72954261 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr7:72954261G>A ENST00000223368.2 - 4 810 c.387C>T c.(385-387)ttC>ttT p.F129F BCL7B_ENST00000482231.1_5'UTR|BCL7B_ENST00000411832.1_Intron NM_001707.3 NP_001698.2 Q9BQE9 BCL7B_HUMAN B-cell CLL/lymphoma 7B 129 actin binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1) 9 Lung NSC(55;0.0659)|all_lung(88;0.152) CATCCGTGCGGAAGTCGGAGG 0.612000 4 39 0 0 0.000602214 0 0 OBSCN 84033 broad.mit.edu 37 1 228559615 228559615 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:228559615G>A ENST00000570156.2 + 105 24081 c.24007G>A c.(24007-24009)Ggc>Agc p.G8003S OBSCN_ENST00000422127.1_Missense_Mutation_p.G7046S|OBSCN_ENST00000366707.4_Missense_Mutation_p.G4680S NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 7046 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) CCCCCAGGAGGGCTGCAGCCC 0.672000 5 21 0 0 0.000602214 0 0 KIAA0556 23247 broad.mit.edu 37 16 27786390 27786390 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr16:27786390C>T ENST00000261588.4 + 24 4453 c.4434C>T c.(4432-4434)ccC>ccT p.P1478P NM_015202.2 NP_056017.2 O60303 K0556_HUMAN KIAA0556 1478 breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 76 GGCTGGCTCCCATCCTGCCGG 0.662000 6 59 0 0 0.000157383 0 0 SLX4 84464 broad.mit.edu 37 16 3633495 3633495 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr16:3633495G>A ENST00000294008.3 - 14 5396 c.4756C>T c.(4756-4758)Ctg>Ttg p.L1586L NM_032444.2 NP_115820.2 Q8IY92 SLX4_HUMAN SLX4 structure-specific endonuclease subunit 1586 Interaction with MUS81.|Interaction with PLK1 and TERF2-TERF2IP. DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair Slx1-Slx4 complex enzyme activator activity|protein binding breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 CGTTTAGGCAGAGGGCGGACT 0.557000 Direct reversal of damage 17 80 0 0 0.00074312 0 0 PLXNA4 91584 broad.mit.edu 37 7 131844263 131844263 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr7:131844263G>A ENST00000359827.3 - 25 5591 c.4629C>T c.(4627-4629)tcC>tcT p.S1543S PLXNA4_ENST00000321063.4_Silent_p.S1543S Q9HCM2 PLXA4_HUMAN plexin A4 1543 integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 TGGGCCGGTGGGAGCAAGGCA 0.552000 28 289 0 0 0.00178596 0 0 CNDP2 55748 broad.mit.edu 37 18 72180828 72180828 + Silent SNP C C T rs148490498 byFrequency TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr18:72180828C>T ENST00000324262.4 + 8 1093 c.777C>T c.(775-777)atC>atT p.I259I CNDP2_ENST00000324301.8_Silent_p.I175I|CNDP2_ENST00000579847.1_Silent_p.I259I NM_018235.2 NP_060705.2 Q96KP4 CNDP2_HUMAN CNDP dipeptidase 2 (metallopeptidase M20 family) 259 cytoplasm carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3) 24 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.22) ACATCCTGATCCCCGGCATTA 0.597000 5 27 0 0 0.000602214 0 0 BAIAP3 8938 broad.mit.edu 37 16 1392257 1392257 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr16:1392257C>T ENST00000324385.5 + 11 1193 c.1035C>T c.(1033-1035)ttC>ttT p.F345F BAIAP3_ENST00000421665.2_Silent_p.F310F|BAIAP3_ENST00000397488.2_Silent_p.F327F|BAIAP3_ENST00000397489.1_Silent_p.F327F|BAIAP3_ENST00000426824.3_Silent_p.F310F|BAIAP3_ENST00000562208.1_Silent_p.F287F|BAIAP3_ENST00000568887.1_Silent_p.F282F NM_003933.4 NP_003924.2 O94812 BAIP3_HUMAN BAI1-associated protein 3 345 G-protein coupled receptor protein signaling pathway|neurotransmitter secretion protein C-terminus binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 Hepatocellular(780;0.0893) CCGATGACTTCCTGGGGTGCC 0.617000 14 42 0 0 0.00244969 0 0 TBC1D22A 25771 broad.mit.edu 37 22 47189669 47189669 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr22:47189669C>T ENST00000337137.4 + 3 557 c.391C>T c.(391-393)Ccc>Tcc p.P131S TBC1D22A_ENST00000472791.1_3'UTR|TBC1D22A_ENST00000355704.3_Missense_Mutation_p.P112S|TBC1D22A_ENST00000380995.1_Missense_Mutation_p.P84S|TBC1D22A_ENST00000406733.1_Missense_Mutation_p.P84S|TBC1D22A_ENST00000407381.3_Missense_Mutation_p.P131S NM_014346.2 NP_055161.1 Q8WUA7 TB22A_HUMAN TBC1 domain family, member 22A 131 intracellular protein homodimerization activity|Rab GTPase activator activity breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1) 22 all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236) UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231) GGCAGAGCCGCCCTCACCCCC 0.687000 3 11 0 0 0.00024832 0 0 JAK1 3716 broad.mit.edu 37 1 65349124 65349124 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:65349124G>A ENST00000342505.4 - 3 289 c.41C>T c.(40-42)gCt>gTt p.A14V NM_002227.2 NP_002218.2 P23458 JAK1_HUMAN Janus kinase 1 14 interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway cytoskeleton|cytosol|endomembrane system|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 BRCA - Breast invasive adenocarcinoma(111;0.0485) AGCACAGAAAGCCATGGCATT 0.473000 Mis ALL 15 95 0 0 0.00074312 0 0 ENO3 2027 broad.mit.edu 37 17 4860302 4860302 + Missense_Mutation SNP T T G TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr17:4860302T>G ENST00000323997.6 + 12 1397 c.1265T>G c.(1264-1266)aTc>aGc p.I422S ENO3_ENST00000518175.1_Missense_Mutation_p.I422S|ENO3_ENST00000519584.1_Missense_Mutation_p.I379S NM_001976.4|NM_053013.3 NP_001967.3|NP_443739.3 P13929 ENOB_HUMAN enolase 3 (beta, muscle) 422 gluconeogenesis|glycolysis phosphopyruvate hydratase complex magnesium ion binding|phosphopyruvate hydratase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1) 15 GACAAGGCAATCTTTGCTGGA 0.577000 OREG0024110 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 138 0 0 0.00121646 0 0 NUP85 79902 broad.mit.edu 37 17 73227516 73227516 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr17:73227516C>T ENST00000447371.2 + 11 1096 c.672C>T c.(670-672)ctC>ctT p.L224L NUP85_ENST00000579324.1_Silent_p.L280L|NUP85_ENST00000579298.1_Silent_p.L347L|NUP85_ENST00000541827.1_Silent_p.L346L|NUP85_ENST00000245544.4_Silent_p.L392L|NUP85_ENST00000540768.1_5'UTR Q9BW27 NUP85_HUMAN nucleoporin 85kDa 392 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle protein binding endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 16 all_lung(278;0.14)|Lung NSC(278;0.168) all cancers(21;3.45e-06) CACACAACCTCTAGTAAGTGG 0.592000 12 83 0 0 0.000978159 0 0 MEF2D 4209 broad.mit.edu 37 1 156438006 156438006 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:156438006G>A ENST00000348159.4 - 11 1813 c.1333C>T c.(1333-1335)Cca>Tca p.P445S MEF2D_ENST00000464356.1_5'UTR|MEF2D_ENST00000368240.2_Missense_Mutation_p.P438S|MEF2D_ENST00000360595.3_Missense_Mutation_p.P438S|MEF2D_ENST00000353795.3_Missense_Mutation_p.P399S|MEF2D_ENST00000340875.5_Missense_Mutation_p.P444S NM_005920.2 NP_005911.1 Q14814 MEF2D_HUMAN myocyte enhancer factor 2D 445 apoptosis|muscle organ development|nervous system development|positive regulation of transcription from RNA polymerase II promoter nucleus activating transcription factor binding|histone deacetylase binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1) 15 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TCACGGCTTGGGGACACCGGT 0.692000 13 61 0 0 0.00244969 0 0 DHX37 57647 broad.mit.edu 37 12 125441678 125441678 + Missense_Mutation SNP T T A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr12:125441678T>A ENST00000308736.2 - 17 2259 c.2161A>T c.(2161-2163)Atc>Ttc p.I721F DHX37_ENST00000544745.1_Missense_Mutation_p.I508F NM_032656.3 NP_116045.2 Q8IY37 DHX37_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 37 721 ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3) 65 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653) GGGAAGTTGATGACCTGGGAC 0.632000 10 89 0 0 0.000978159 0 0 PCDHGB2 56103 broad.mit.edu 37 5 140741003 140741003 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr5:140741003C>T ENST00000522605.1 + 1 1301 c.1301C>T c.(1300-1302)tCc>tTc p.S434F PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron NM_018923.2|NM_032096.1 NP_061746.1|NP_115267.1 endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 14 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCCCTCTCCTCCAGCATAATT 0.537000 12 101 0 0 0.00244969 0 0 DSC3 1825 broad.mit.edu 37 18 28588419 28588419 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr18:28588419C>T ENST00000434452.1 - 10 1490 c.1336G>A c.(1336-1338)Gat>Aat p.D446N DSC3_ENST00000360428.4_Missense_Mutation_p.D446N NM_024423.2 NP_077741.2 Q14574 DSC3_HUMAN desmocollin 3 446 Cadherin 3. homophilic cell adhesion|protein stabilization desmosome|integral to membrane|membrane fraction calcium ion binding|gamma-catenin binding endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 OV - Ovarian serous cystadenocarcinoma(10;0.125) CTGGGAATATCTCTAGCAAAT 0.443000 8 59 0 0 0.000274275 0 0 GJA5 2702 broad.mit.edu 37 1 147230993 147230993 + Silent SNP C C G TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:147230993C>G ENST00000271348.2 - 2 515 c.354G>C c.(352-354)cgG>cgC p.R118R GJA5_ENST00000369237.1_Silent_p.R118R NM_005266.5|NM_181703.2 NP_005257.2|NP_859054.1 P36382 CXA5_HUMAN gap junction protein, alpha 5, 40kDa 118 angiogenesis|cell-cell junction assembly|muscle contraction integral to membrane breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 20 all_hematologic(923;0.0276) LUSC - Lung squamous cell carcinoma(543;0.202) AGCCAGAGCCCCGGACCTCTT 0.617000 20 62 0 0 0.000958276 0 0 EYA2 2139 broad.mit.edu 37 20 45702823 45702823 + Silent SNP C C A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr20:45702823C>A ENST00000327619.5 + 7 884 c.510C>A c.(508-510)ccC>ccA p.P170P EYA2_ENST00000317304.6_Silent_p.P170P|EYA2_ENST00000357410.3_Silent_p.P170P NM_005244.4 NP_005235.3 O00167 EYA2_HUMAN eyes absent homolog 2 (Drosophila) 170 DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus magnesium ion binding|protein binding|protein tyrosine phosphatase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0241) CCGGCTTCCCCCAGAGCCAGT 0.602000 8 75 3.86212e-05 0.00015106 0.000673444 1 0 ANGPT4 51378 broad.mit.edu 37 20 896765 896765 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr20:896765C>T ENST00000381922.3 - 1 195 c.93G>A c.(91-93)agG>agA p.R31R ANGPT4_ENST00000546022.1_Silent_p.R31R NM_015985.2 NP_057069.1 Q9Y264 ANGP4_HUMAN angiopoietin 4 31 anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction extracellular space receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1) 27 TCTCGCAGCCCCTATCCGCCT 0.607000 12 48 0 0 0.00185496 0 0 BFSP1 631 broad.mit.edu 37 20 17474832 17474832 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr20:17474832C>T ENST00000377873.3 - 8 1924 c.1885G>A c.(1885-1887)Gag>Aag p.E629K BFSP1_ENST00000536626.1_Missense_Mutation_p.E490K|BFSP1_ENST00000377868.2_Missense_Mutation_p.E504K|BFSP1_ENST00000544874.1_Missense_Mutation_p.E490K NM_001195.3 NP_001186.1 Q12934 BFSP1_HUMAN beaded filament structural protein 1, filensin 629 Tail. cytoplasm|intermediate filament|membrane structural constituent of cytoskeleton|structural constituent of eye lens central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1) 18 GAAATCTTCTCGATAGATTCC 0.488000 46 158 0 0 0.00222228 0 0 HCN1 348980 broad.mit.edu 37 5 45262291 45262291 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr5:45262291G>A ENST00000303230.4 - 8 2462 c.2405C>T c.(2404-2406)tCc>tTc p.S802F NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 802 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 ATGAGGTCTGGAAATCAGAGT 0.657000 9 43 0 0 0.000274275 0 0 RBBP8NL 140893 broad.mit.edu 37 20 60990901 60990901 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr20:60990901G>A ENST00000252998.1 - 7 643 c.487C>T c.(487-489)Ccg>Tcg p.P163S NM_080833.2 NP_543023.2 RBBP8 N-terminal like TGGCCTCCCGGTGGCTTCTCT 0.716000 8 25 0 0 0.000274275 0 0 OR51V1 283111 broad.mit.edu 37 11 5221247 5221247 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr11:5221247G>A ENST00000321255.1 - 1 683 c.684C>T c.(682-684)atC>atT p.I228I NM_001004760.2 NP_001004760.2 Q9H2C8 O51V1_HUMAN olfactory receptor, family 51, subfamily V, member 1 228 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TAAGAATCAGGATGTAGGAGA 0.438000 10 51 0 0 0.000442599 0 0 TYW1 55253 broad.mit.edu 37 7 66490002 66490002 + Missense_Mutation SNP A A T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr7:66490002A>T ENST00000359626.5 + 7 1141 c.977A>T c.(976-978)aAa>aTa p.K326I NM_018264.2 NP_060734.2 Q9NV66 TYW1_HUMAN tRNA-yW synthesizing protein 1 homolog (S. cerevisiae) 326 tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2) 46 Lung NSC(55;0.0846)|all_lung(88;0.183) CATGTGAAGAAAGAAAAGGTA 0.413000 13 81 0 0 0.000308642 0 0 FREM2 341640 broad.mit.edu 37 13 39263138 39263138 + Silent SNP T T C TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr13:39263138T>C ENST00000280481.7 + 1 1873 c.1657T>C c.(1657-1659)Tta>Cta p.L553L NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 553 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) CCCCATCACCTTAGTGCCTGT 0.587000 5 25 0 0 0.00116845 0 0 NEDD4L 23327 broad.mit.edu 37 18 55992273 55992273 + Nonsense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr18:55992273C>T ENST00000456986.1 + 9 796 c.196C>T c.(196-198)Caa>Taa p.Q66* NEDD4L_ENST00000431212.2_Nonsense_Mutation_p.Q66*|NEDD4L_ENST00000456173.2_Nonsense_Mutation_p.Q66*|NEDD4L_ENST00000400345.3_Nonsense_Mutation_p.Q187*|NEDD4L_ENST00000382850.4_Nonsense_Mutation_p.Q187*|NEDD4L_ENST00000356462.6_Nonsense_Mutation_p.Q187*|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000586263.1_Nonsense_Mutation_p.Q179*|NEDD4L_ENST00000256832.7_Nonsense_Mutation_p.Q66*|NEDD4L_ENST00000256830.9_Nonsense_Mutation_p.Q187*|NEDD4L_ENST00000435432.2_Nonsense_Mutation_p.Q66*|NEDD4L_ENST00000357895.5_Nonsense_Mutation_p.Q179* NM_001144964.1 NP_001138436.1 Q96PU5 NED4L_HUMAN neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase 187 C2. cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis cytoplasm protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4) 37 TTCTCAGCACCAAGAGGAACT 0.488000 37 223 0 0 0.000953801 0 0 MTOR 2475 broad.mit.edu 37 1 11307753 11307753 + Missense_Mutation SNP T T A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:11307753T>A ENST00000361445.4 - 8 1230 c.1154A>T c.(1153-1155)aAc>aTc p.N385I NM_004958.3 NP_004949.1 P42345 MTOR_HUMAN mechanistic target of rapamycin (serine/threonine kinase) 385 cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex ATP binding|phosphoprotein binding|protein serine/threonine kinase activity breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 149 GATCAGCGAGTTCTTGCTATT 0.498000 13 68 0 0 0.000308642 0 0 LRRC37A4P 55073 broad.mit.edu 37 17 43625475 43625475 + RNA SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr17:43625475C>T ENST00000586348.1 + 0 45 GTTGAGGTCTCCTCTGTGGTT 0.507000 34 217 0 0 0.00111076 0 0 MAGI1 9223 broad.mit.edu 37 3 65349223 65349223 + Nonsense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr3:65349223G>A ENST00000330909.8 - 22 3495 c.3496C>T c.(3496-3498)Cga>Tga p.R1166* MAGI1_ENST00000497477.2_Nonsense_Mutation_p.R1071*|MAGI1_ENST00000402939.2_Nonsense_Mutation_p.R1138*|MAGI1_ENST00000483466.1_Nonsense_Mutation_p.R1167* NM_015520.1 NP_056335.1 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 1 1167 PDZ 6. cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5) 51 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) CGGCCTCCTCGAAGGCTAAAG 0.463000 21 102 0 0 0.00152264 0 0 TDRD9 122402 broad.mit.edu 37 14 104482409 104482409 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr14:104482409C>T ENST00000409874.4 + 22 2363 c.2315C>T c.(2314-2316)cCc>cTc p.P772L TDRD9_ENST00000339063.5_Missense_Mutation_p.P772L NM_153046.2 NP_694591.2 Q8NDG6 TDRD9_HUMAN tudor domain containing 9 772 cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis nucleus|piP-body ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 33 all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768) GGCAAGGACCCCAAGACAACT 0.507000 5 12 0 0 0.00116845 0 0 ENAM 10117 broad.mit.edu 37 4 71510108 71510108 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr4:71510108G>A ENST00000396073.3 + 9 3246 c.2965G>A c.(2965-2967)Gat>Aat p.D989N ENAM_ENST00000472903.1_Intron NM_031889.2 NP_114095.2 Q9NRM1 ENAM_HUMAN enamelin 989 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2) 6 Lung(101;0.235) TCTCAAAAATGATCTTGGAGG 0.408000 14 49 0 0 0.00244969 0 0 CPS1 1373 broad.mit.edu 37 2 211532934 211532934 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr2:211532934C>T ENST00000233072.5 + 34 4223 c.4027C>T c.(4027-4029)Cat>Tat p.H1343Y CPS1_ENST00000451903.2_Missense_Mutation_p.H892Y|CPS1_ENST00000430249.2_Missense_Mutation_p.H1349Y NM_001875.4 NP_001866.2 P31327 CPSM_HUMAN carbamoyl-phosphate synthase 1, mitochondrial 1343 carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 142 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) TGAAGGTATTCATACAGCCTT 0.383000 4 42 0 0 0.000602214 0 0 CHRNA9 55584 broad.mit.edu 37 4 40356328 40356328 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr4:40356328C>T ENST00000310169.2 + 5 1370 c.1231C>T c.(1231-1233)Cct>Tct p.P411S NM_017581.3 NP_060051.2 Q9UGM1 ACHA9_HUMAN cholinergic receptor, nicotinic, alpha 9 (neuronal) 411 elevation of cytosolic calcium ion concentration|synaptic transmission cell junction|postsynaptic membrane calcium channel activity|receptor activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1) 33 Nicotine(DB00184) GGGTAAGAACCCTCAGGAGGC 0.498000 7 50 0 0 0.00198382 0 0 DIO2 1734 broad.mit.edu 37 14 80669068 80669068 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr14:80669068G>A ENST00000557010.1 - 4 1171 c.786C>T c.(784-786)ttC>ttT p.F262F DIO2_ENST00000557125.1_3'UTR|DIO2_ENST00000422005.3_3'UTR|DIO2_ENST00000438257.4_Silent_p.F262F|DIO2_ENST00000555750.1_Silent_p.F298F NM_000793.5|NM_001242502.1|NM_001242503.1 NP_000784.2|NP_001229431.1|NP_001229432.1 Q92813 IOD2_HUMAN deiodinase, iodothyronine, type II 262 hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation integral to membrane|plasma membrane thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1) 25 BRCA - Breast invasive adenocarcinoma(234;0.0281) ATCTCTTGCTGAAATTCTTCT 0.383000 6 24 0 0 0.00198382 0 0 JAK3 3718 broad.mit.edu 37 19 17951087 17951087 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr19:17951087G>A ENST00000458235.1 - 9 1305 c.1206C>T c.(1204-1206)cgC>cgT p.R402R JAK3_ENST00000534444.1_Silent_p.R402R|JAK3_ENST00000526008.1_5'UTR|JAK3_ENST00000527670.1_Silent_p.R402R NM_000215.3 NP_000206.2 P52333 JAK3_HUMAN Janus kinase 3 402 SH2; atypical. B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis cytoskeleton|cytosol|endomembrane system|membrane ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5) 147 GGGGGCTGCGGCGGAGAACAT 0.602000 2 Mis """acute megakaryocytic leukemia, ETP ALL""" 4 28 0 0 0.000602214 0 0 C3orf30 152405 broad.mit.edu 37 3 118865782 118865782 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr3:118865782C>T ENST00000295622.1 + 1 786 c.746C>T c.(745-747)cCa>cTa p.P249L NM_152539.2 NP_689752.2 Q96M34 CC030_HUMAN chromosome 3 open reading frame 30 249 NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(114;0.222) TCGTCCGTACCATCTGACCAA 0.483000 12 83 0 0 0.000978159 0 0 SORCS1 114815 broad.mit.edu 37 10 108357136 108357136 + Missense_Mutation SNP G G A rs147754225 TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr10:108357136G>A ENST00000263054.6 - 24 3245 c.3238C>T c.(3238-3240)Ctt>Ttt p.L1080F SORCS1_ENST00000344440.6_Missense_Mutation_p.L1080F|SORCS1_ENST00000369698.1_Missense_Mutation_p.L615F NM_001206570.1|NM_052918.4 NP_001193499.1|NP_443150.3 Q8WY21 SORC1_HUMAN sortilin-related VPS10 domain containing receptor 1 1080 integral to membrane neuropeptide receptor activity|protein binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 127 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) GCATGGACAAGGACTCGGACT 0.512000 7 28 0 0 0.000274275 0 0 MKX 283078 broad.mit.edu 37 10 28023391 28023391 + Missense_Mutation SNP G G A rs138096382 TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr10:28023391G>A ENST00000375790.5 - 5 1264 c.832C>T c.(832-834)Cgc>Tgc p.R278C MKX_ENST00000419761.1_Missense_Mutation_p.R278C Q8IYA7 MKX_HUMAN mohawk homeobox 278 muscle organ development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2) 16 TTACCTGTGCGATAGACAAAG 0.393000 6 59 0 0 0.00198382 0 0 SLC2A10 81031 broad.mit.edu 37 20 45354695 45354695 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr20:45354695C>T ENST00000359271.2 + 2 1270 c.1020C>T c.(1018-1020)ggC>ggT p.G340G NM_030777.3 NP_110404.1 O95528 GTR10_HUMAN solute carrier family 2 (facilitated glucose transporter), member 10 340 endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 34 Myeloproliferative disorder(115;0.0122) GGCAGACAGGCCTCCCTGGAG 0.597000 10 63 0 0 0.000673444 0 0 CLCA2 9635 broad.mit.edu 37 1 86916403 86916403 + Silent SNP T T C TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:86916403T>C ENST00000370565.4 + 12 2304 c.2142T>C c.(2140-2142)ggT>ggC p.G714G CLCA2_ENST00000498802.1_3'UTR NM_006536.5 NP_006527.1 Q9UQC9 CLCA2_HUMAN chloride channel accessory 2 714 cell adhesion basal plasma membrane|cell junction|extracellular region|integral to plasma membrane chloride channel activity NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 42 Lung NSC(277;0.238) all cancers(265;0.0233)|Epithelial(280;0.0452) ATGTACCAGGTTACACAGCAA 0.443000 5 76 0 0 0.00198382 0 0 ABCB1 5243 broad.mit.edu 37 7 87144652 87144652 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr7:87144652C>T ENST00000265724.3 - 26 3594 c.3177G>A c.(3175-3177)gaG>gaA p.E1059E ABCB1_ENST00000488737.2_5'UTR|ABCB1_ENST00000543898.1_Silent_p.E995E NM_000927.4 NP_000918.2 P08183 MDR1_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 1 1059 ABC transporter 2. G2/M transition of mitotic cell cycle|stem cell proliferation apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction ATP binding|protein binding|xenobiotic-transporting ATPase activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 111 Esophageal squamous(14;0.00164) Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570) CCTTCTTCACCTCCAGGCTCA 0.567000 9 47 0 0 0.000673444 0 0 IK 3550 broad.mit.edu 37 5 140032629 140032629 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr5:140032629C>T ENST00000417647.2 + 5 443 c.304C>T c.(304-306)Cgt>Tgt p.R102C IK_ENST00000523672.1_3'UTR NM_006083.3 NP_006074.2 Q13123 RED_HUMAN IK cytokine, down-regulator of HLA II 102 cell-cell signaling|immune response extracellular space|nucleus|soluble fraction p.R102C(1) large_intestine(1) 1 all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTACCGGGATCGTGCCAAGGA 0.483000 7 59 0 0 0.00198382 0 0 CTD-2066L21.3 0 broad.mit.edu 37 5 33162403 33162403 + RNA SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr5:33162403C>T ENST00000510327.1 - 0 346 AAGATTGGCCCCCGCCGCATC 0.582000 3 19 0 0 6.4e-05 0 0 HEPHL1 341208 broad.mit.edu 37 11 93826788 93826788 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr11:93826788G>A ENST00000315765.9 + 13 2424 c.2416G>A c.(2416-2418)Gag>Aag p.E806K NM_001098672.1 NP_001092142.1 Q6MZM0 HPHL1_HUMAN hephaestin-like 1 806 Plastocyanin-like 5. copper ion transport integral to membrane copper ion binding|oxidoreductase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 61 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) ACCACGAGAGGAGCACTTAGA 0.493000 15 68 0 0 0.000308642 0 0 DNAH3 55567 broad.mit.edu 37 16 21042418 21042418 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr16:21042418C>T ENST00000261383.3 - 37 5387 c.5388G>A c.(5386-5388)gtG>gtA p.V1796V DNAH3_ENST00000415178.1_Silent_p.V1796V NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 1796 AAA 2 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) AAATAGCATCCACTGGCCCAT 0.428000 9 63 0 0 0.000274275 0 0 TCTE1 202500 broad.mit.edu 37 6 44253875 44253875 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr6:44253875G>A ENST00000371505.4 - 3 794 c.672C>T c.(670-672)acC>acT p.T224T TCTE1_ENST00000371503.3_Silent_p.T71T|TCTE1_ENST00000371504.1_Silent_p.T71T|TMEM151B_ENST00000438774.2_Intron NM_182539.3 NP_872345.2 Q5JU00 TCTE1_HUMAN t-complex-associated-testis-expressed 1 224 p.T224T(1) breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) AGTGGTCAACGGTGGGCTCCT 0.637000 6 88 0 0 0.00198382 0 0 FGA 2243 broad.mit.edu 37 4 155506702 155506702 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr4:155506702G>A ENST00000302053.3 - 5 1957 c.1879C>T c.(1879-1881)Cgc>Tgc p.R627C FGA_ENST00000403106.3_Missense_Mutation_p.R627C NM_000508.3 NP_000499.1 P02671 FIBA_HUMAN fibrinogen alpha chain 627 Fibrinogen C-terminal. platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding p.R627C(1) NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 73 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) ctgaCAGGGCGAGATTTAGCA 0.493000 7 42 0 0 0.000157383 0 0 SLC12A5 57468 broad.mit.edu 37 20 44681630 44681630 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr20:44681630C>T ENST00000454036.1 + 19 2557 c.2481C>T c.(2479-2481)gcC>gcT p.A827A SLC12A5_ENST00000243964.3_Silent_p.A804A NM_001134771.1 NP_001128243.1 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium/chloride transporter), member 5 827 potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 80 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) GCCACTTAGCCCTGCTGGTCA 0.592000 6 25 0 0 0.00116845 0 0 MUC5AC 4586 broad.mit.edu 37 11 1159336 1159336 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr11:1159336G>A ENST00000356191.2 + 16 1304 c.1304G>A c.(1303-1305)gGa>gAa p.G435E mucin 5AC, oligomeric mucus/gel-forming NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 203 all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724) TCTGTGCTTGGAGGTGCCCAC 0.642000 17 70 0 0 0.00074312 0 0 RAC1 5879 broad.mit.edu 37 7 6426892 6426892 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr7:6426892C>T ENST00000348035.4 + 2 298 c.85C>T c.(85-87)Cct>Tct p.P29S RAC1_ENST00000356142.4_Missense_Mutation_p.P29S|RAC1_ENST00000488373.1_3'UTR NM_006908.4 NP_008839.2 P63000 RAC1_HUMAN ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1) 29 actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction cytosol|melanosome|plasma membrane GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding p.P29S(1) cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 8 Ovarian(82;0.0776) UCEC - Uterine corpus endometrioid carcinoma (126;0.104) Pravastatin(DB00175)|Simvastatin(DB00641) CAATGCATTTCCTGGAGAATA 0.353000 18 122 0 0 0.00229938 0 0 RAB1B 81876 broad.mit.edu 37 11 66043344 66043344 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr11:66043344C>T ENST00000311481.6 + 5 496 c.349C>T c.(349-351)Ctc>Ttc p.L117F RP11-867G23.3_ENST00000501708.1_lincRNA|RAB1B_ENST00000527397.1_Missense_Mutation_p.L85F NM_030981.2 NP_112243.1 Q9H0U4 RAB1B_HUMAN RAB1B, member RAS oncogene family 117 protein transport|small GTPase mediated signal transduction Golgi apparatus|membrane GTP binding|protein binding large_intestine(2)|lung(1)|ovary(1)|prostate(1) 5 CGTCAATAAGCTCCTGGTGGG 0.597000 4 20 0 0 0.00024832 0 0 PCDH17 27253 broad.mit.edu 37 13 58207500 58207500 + Missense_Mutation SNP C C G TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr13:58207500C>G ENST00000377918.3 + 1 846 c.820C>G c.(820-822)Ccc>Gcc p.P274A NM_001040429.2 NP_001035519.1 O14917 PCD17_HUMAN protocadherin 17 274 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) CGATGAAGGTCCCAATGGTGA 0.607000 11 58 0 0 0.000978159 0 0 INO80D 54891 broad.mit.edu 37 2 206869496 206869496 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr2:206869496G>A ENST00000403263.1 - 11 3084 c.2680C>T c.(2680-2682)Cct>Tct p.P894S NM_017759.4 NP_060229.3 Q53TQ3 IN80D_HUMAN INO80 complex subunit D 626 DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2) 26 AGGTTGACAGGGAGATTGCCC 0.557000 10 62 0 0 0.000442599 0 0 PCDH10 57575 broad.mit.edu 37 4 134072200 134072200 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr4:134072200G>A ENST00000264360.4 + 1 1731 c.905G>A c.(904-906)gGa>gAa p.G302E NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 302 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) GAGCTTTTCGGACTCTCGCCG 0.632000 10 52 0 0 0.000442599 0 0 TRAK2 66008 broad.mit.edu 37 2 202248843 202248843 + Missense_Mutation SNP A A C TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr2:202248843A>C ENST00000332624.3 - 15 2488 c.2060T>G c.(2059-2061)gTt>gGt p.V687G NM_015049.2 NP_055864.2 O60296 TRAK2_HUMAN trafficking protein, kinesin binding 2 687 Missing (in Ref. 2). early endosome|plasma membrane GABA receptor binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1) 23 CCTGGGGGTAACCTGAGTGAT 0.428000 6 37 0 0 0.00116845 0 0 SSPO 23145 broad.mit.edu 37 7 149509388 149509388 + RNA SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr7:149509388C>T ENST00000378016.2 + 0 9786 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GGCCCTGGTCCCACTGTAGCC 0.716000 7 22 0 0 0.000442599 0 0 SLC14A2 8170 broad.mit.edu 37 18 43216985 43216985 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr18:43216985C>T ENST00000255226.6 + 6 1497 c.681C>T c.(679-681)atC>atT p.I227I SLC14A2_ENST00000586448.1_Silent_p.I227I NM_007163.3 NP_009094.3 Q15849 UT2_HUMAN solute carrier family 14 (urea transporter), member 2 227 apical plasma membrane|integral to membrane|membrane fraction protein binding|urea transmembrane transporter activity NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 TGAATTCCATCTTCAGCAAGT 0.512000 36 232 0 0 0.00170553 0 0 LRP1B 53353 broad.mit.edu 37 2 141128281 141128281 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr2:141128281C>T ENST00000389484.3 - 71 11977 c.11006G>A c.(11005-11007)aGa>aAa p.R3669K NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 3669 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TACCTTACCTCTTTCACAGTT 0.408000 TSP Lung(27;0.18) 4 19 0 0 0.00024832 0 0 NIM1K 167359 broad.mit.edu 37 5 43277242 43277242 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr5:43277242G>A ENST00000512796.1 + 3 1875 c.376G>A c.(376-378)Gaa>Aaa p.E126K NIM1_ENST00000326035.2_Missense_Mutation_p.E126K Q8IY84 NIM1_HUMAN 126 Protein kinase. ATP binding|magnesium ion binding|protein serine/threonine kinase activity CTCCAGCATGGAAAAGCTGCA 0.498000 9 54 0 0 0.000274275 0 0 COQ9 57017 broad.mit.edu 37 16 57493987 57493987 + Missense_Mutation SNP G G A rs140788797 TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr16:57493987G>A ENST00000262507.6 + 8 961 c.892G>A c.(892-894)Gtg>Atg p.V298M COQ9_ENST00000567933.1_Missense_Mutation_p.V187M|COQ9_ENST00000567072.1_Missense_Mutation_p.V263M NM_020312.3 NP_064708.1 O75208 COQ9_HUMAN coenzyme Q9 298 ubiquinone biosynthetic process mitochondrion breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1) 16 AGAGGCACTGGTGCAAGGACT 0.532000 5 42 0 0 0.00198382 0 0 FCGBP 8857 broad.mit.edu 37 19 40424155 40424155 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr19:40424155G>A ENST00000221347.6 - 4 2055 c.2048C>T c.(2047-2049)cCc>cTc p.P683L NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 683 VWFD 1. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) GACAGCGAAGGGGCCATCGAG 0.637000 30 193 0 0 0.00178596 0 0 C5orf46 389336 broad.mit.edu 37 5 147281223 147281223 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr5:147281223C>T ENST00000515291.1 - 2 220 c.184G>A c.(184-186)Gag>Aag p.E62K C5orf46_ENST00000510432.1_5'UTR|C5orf46_ENST00000318315.4_Missense_Mutation_p.E62K Q6UWT4 CE046_HUMAN chromosome 5 open reading frame 46 62 extracellular region p.E62K(1) NS(1)|lung(1)|prostate(1) 3 AGGATGAACTCGACTGCATTC 0.498000 5 45 0 0 0.000602214 0 0 SPG20 23111 broad.mit.edu 37 13 36888536 36888536 + Silent SNP A A G TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr13:36888536A>G ENST00000451493.1 - 6 1528 c.1311T>C c.(1309-1311)ggT>ggC p.G437G SPG20_ENST00000438666.2_Silent_p.G437G|SPG20_ENST00000494062.2_Silent_p.G437G|SPG20_ENST00000355182.4_Silent_p.G437G NM_001142295.1 NP_001135767.1 Q8N0X7 SPG20_HUMAN spastic paraplegia 20 (Troyer syndrome) 437 cell death cytoplasm ubiquitin protein ligase binding breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 27 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026) CTTTGACTAAACCCCAACTCA 0.383000 7 49 0 0 0.000157383 0 0 BOLL 66037 broad.mit.edu 37 2 198593201 198593201 + Missense_Mutation SNP C C T rs151126588 by1000genomes TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr2:198593201C>T ENST00000430004.1 - 12 1388 c.992G>A c.(991-993)cGa>cAa p.R331Q BOLL_ENST00000282278.8_3'UTR|BOLL_ENST00000392296.4_3'UTR|BOLL_ENST00000321801.7_3'UTR|AC011997.1_ENST00000409845.1_Intron Q8N9W6 BOLL_HUMAN boule-like RNA-binding protein 0 cell differentiation|meiosis|multicellular organismal development|positive regulation of translational initiation|spermatogenesis cytoplasm nucleotide binding|protein binding|RNA binding|translation activator activity central_nervous_system(1)|endometrium(2)|lung(6)|ovary(3)|prostate(1) 13 CTAGCTGGTTCGTTGAAGCTG 0.418000 5 41 0 0 0.00198382 0 0 SIM1 6492 broad.mit.edu 37 6 100897561 100897561 + Silent SNP T T A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr6:100897561T>A ENST00000369208.3 - 5 1145 c.363A>T c.(361-363)ggA>ggT p.G121G SIM1_ENST00000262901.4_Silent_p.G121G P81133 SIM1_HUMAN single-minded family bHLH transcription factor 1 121 PAS 1. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 79 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) AAATGCTGTTTCCGGTCAGCT 0.577000 6 54 0 0 0.00116845 0 0 ACVR1B 91 broad.mit.edu 37 12 52374763 52374763 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr12:52374763C>T ENST00000257963.4 + 4 668 c.591C>T c.(589-591)ctC>ctT p.L197L ACVR1B_ENST00000542485.1_Silent_p.L145L|ACVR1B_ENST00000541224.1_Silent_p.L197L|ACVR1B_ENST00000426655.2_Silent_p.L197L|ACVR1B_ENST00000415850.2_Silent_p.L197L NM_004302.4|NM_020328.3 NP_004293.1|NP_064733.3 P36896 ACV1B_HUMAN activin A receptor, type IB 197 GS. G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway cell surface activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1) 44 BRCA - Breast invasive adenocarcinoma(357;0.104) Adenosine triphosphate(DB00171) GGTTACCCCTCTTTGTCCAGC 0.498000 OREG0021829 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 56 0 0 0.00198382 0 0 DCAF4L2 138009 broad.mit.edu 37 8 88885086 88885086 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr8:88885086G>A ENST00000319675.3 - 1 1210 c.1114C>T c.(1114-1116)Ctc>Ttc p.L372F NM_152418.3 NP_689631.1 Q8NA75 DC4L2_HUMAN DDB1 and CUL4 associated factor 4-like 2 372 breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 83 AAGCCCCCGAGGCGAGAAGAG 0.592000 4 52 0 0 0.000602214 0 0 OR8D1 283159 broad.mit.edu 37 11 124179850 124179850 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr11:124179850C>T ENST00000357821.2 - 1 883 c.813G>A c.(811-813)gaG>gaA p.E271E NM_001002917.1 NP_001002917.1 Q8WZ84 OR8D1_HUMAN olfactory receptor, family 8, subfamily D, member 1 271 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528) AGGACACCTTCTCCTGGTCCA 0.463000 9 27 0 0 0.000978159 0 0 SAMD3 154075 broad.mit.edu 37 6 130497140 130497140 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr6:130497140C>T ENST00000532763.1 - 7 791 c.662G>A c.(661-663)cGa>cAa p.R221Q SAMD3_ENST00000457563.2_Missense_Mutation_p.R247Q|SAMD3_ENST00000368134.2_Missense_Mutation_p.R223Q|SAMD3_ENST00000439090.2_Missense_Mutation_p.R223Q|SAMD3_ENST00000533296.1_5'UTR|SAMD3_ENST00000437477.2_Missense_Mutation_p.R223Q Q8N6K7 SAMD3_HUMAN sterile alpha motif domain containing 3 223 breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 29 GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128) TTTGAGGGCTCGTTTCCATAA 0.348000 12 66 0 0 0.000308642 0 0 HYDIN 54768 broad.mit.edu 37 16 70889126 70889126 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr16:70889126G>A ENST00000393567.2 - 73 12498 c.12348C>T c.(12346-12348)ttC>ttT p.F4116F NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 4116 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) AGGAAAAATCGAACCCCTGCT 0.542000 12 76 0 0 0.000308642 0 0 EVPL 2125 broad.mit.edu 37 17 74005574 74005574 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr17:74005574G>A ENST00000301607.3 - 22 3965 c.3712C>T c.(3712-3714)Ctg>Ttg p.L1238L EVPL_ENST00000586740.1_Silent_p.L1260L NM_001988.2 NP_001979.2 Q92817 EVPL_HUMAN envoplakin 1238 Central fibrous rod domain. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 AGGACCTCCAGGTCGGGCAGC 0.642000 11 83 0 0 0.000673444 0 0 CNKSR1 10256 broad.mit.edu 37 1 26514779 26514779 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:26514779C>T ENST00000531191.1 + 16 1742 c.735C>T c.(733-735)gcC>gcT p.A245A CNKSR1_ENST00000361530.6_Silent_p.A503A|CNKSR1_ENST00000374253.5_Silent_p.A510A Q969H4 CNKR1_HUMAN connector enhancer of kinase suppressor of Ras 1 510 PDZ. Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway cell cortex|cell-cell junction protein binding, bridging breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 28 Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649) CAGGCCGGGCCCCCCCACCCC 0.602000 12 44 0 0 0.00185496 0 0 FOLH1 2346 broad.mit.edu 37 11 49208318 49208318 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr11:49208318C>T ENST00000340334.7 - 6 840 c.472G>A c.(472-474)Gat>Aat p.D158N FOLH1_ENST00000533034.1_Missense_Mutation_p.D158N|FOLH1_ENST00000356696.3_Missense_Mutation_p.D173N|FOLH1_ENST00000343844.4_5'UTR|FOLH1_ENST00000256999.2_Missense_Mutation_p.D173N NM_001193471.1|NM_001193472.1 NP_001180400.1|NP_001180401.1 Q04609 FOLH1_HUMAN folate hydrolase (prostate-specific membrane antigen) 1 173 proteolysis cytoplasm|integral to plasma membrane|membrane fraction|nucleus carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 60 Capromab(DB00089)|L-Glutamic Acid(DB00142) TACACTAGATCGCCCTGTTGA 0.393000 12 73 0 0 0.00244969 0 0 SIK3 23387 broad.mit.edu 37 11 116729133 116729133 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr11:116729133G>A ENST00000375300.1 - 20 2909 c.2904C>T c.(2902-2904)atC>atT p.I968I SIK3_ENST00000292055.4_Silent_p.I910I|SIK3_ENST00000542607.1_Silent_p.I850I|SIK3_ENST00000434315.2_Silent_p.I749I|SIK3_ENST00000446921.2_Silent_p.I908I|SIK3_ENST00000375288.1_Silent_p.I245I|SIK3_ENST00000488337.1_5'UTR Q9Y2K2 SIK3_HUMAN SIK family kinase 3 910 cytoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 57 GTCCTTGAAGGATGTGGGGTA 0.592000 122 685 0 0 0.000781405 0 0 SRGAP3 9901 broad.mit.edu 37 3 9146374 9146374 + Missense_Mutation SNP A A C TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr3:9146374A>C ENST00000383836.3 - 3 840 c.413T>G c.(412-414)cTc>cGc p.L138R SRGAP3_ENST00000360413.3_Missense_Mutation_p.L138R|SRGAP3_ENST00000433332.3_5'UTR NM_014850.3 NP_055665.1 O43295 SRGP2_HUMAN SLIT-ROBO Rho GTPase activating protein 3 138 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding SRGAP3/RAF1(6) breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 OV - Ovarian serous cystadenocarcinoma(96;0.0563) CTTTTTGAAGAGTCTGATGAC 0.552000 T RAF1 pilocytic astrocytoma 13 83 0 0 0.00185496 0 0 LOC344967 344967 broad.mit.edu 37 4 40045554 40045554 + RNA SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr4:40045554G>A ENST00000381811.2 - 0 595 NR_027277.1 TGGGCCACAGGAAGTGGGTGC 0.612000 4 11 0 0 0.00024832 0 0 SYT10 341359 broad.mit.edu 37 12 33579230 33579230 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr12:33579230C>T ENST00000228567.3 - 2 648 c.352G>A c.(352-354)Gaa>Aaa p.E118K SYT10_ENST00000535526.1_5'UTR NM_198992.3 NP_945343.1 Q6XYQ8 SYT10_HUMAN synaptotagmin X 118 cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1) 42 Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334) TTTTCATTTTCCTTAATTTCT 0.408000 14 91 0 0 0.000308642 0 0 NPAP1 23742 broad.mit.edu 37 15 24922007 24922007 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr15:24922007G>A ENST00000329468.2 + 1 1467 c.993G>A c.(991-993)tcG>tcA p.S331S NM_018958.2 NP_061831.2 nuclear pore associated protein 1 GGAAAATGTCGATTCCATTGC 0.587000 13 45 0 0 0.00136819 0 0 NFATC2 4773 broad.mit.edu 37 20 50133368 50133368 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr20:50133368G>A ENST00000371564.3 - 3 1506 c.1287C>T c.(1285-1287)agC>agT p.S429S NFATC2_ENST00000396009.3_Silent_p.S429S|NFATC2_ENST00000414705.1_Silent_p.S409S NM_001258296.1|NM_012340.4 NP_001245225.1|NP_036472.2 Q13469 NFAC2_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 429 RHD. B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug actin cytoskeleton|nucleus|plasma membrane protein binding|sequence-specific DNA binding transcription factor activity EWSR1/NFATC2(9) breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 53 Hepatocellular(150;0.248) CAGCCCCTCGGCTGCCTTCTG 0.557000 9 59 0 0 0.000442599 0 0 UTP20 27340 broad.mit.edu 37 12 101703550 101703550 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr12:101703550C>T ENST00000261637.4 + 19 2338 c.2164C>T c.(2164-2166)Cgt>Tgt p.R722C NM_014503.2 NP_055318.2 O75691 UTP20_HUMAN UTP20, small subunit (SSU) processome component, homolog (yeast) 722 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 GGTGCCGCTTCGTTATTTGTT 0.358000 19 140 0 0 0.00121646 0 0 CRHBP 1393 broad.mit.edu 37 5 76259231 76259231 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr5:76259231G>A ENST00000274368.4 + 6 1179 c.757G>A c.(757-759)Gac>Aac p.D253N CRHBP_ENST00000514258.1_3'UTR NM_001882.3 NP_001873.2 P24387 CRHBP_HUMAN corticotropin releasing hormone binding protein 253 female pregnancy|learning or memory|signal transduction soluble fraction kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2) 16 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11) OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41) AACTGGATTGGACCCTTCCAA 0.453000 68 386 0 0 0.000781405 0 0 SLCO2A1 6578 broad.mit.edu 37 3 133698444 133698444 + Missense_Mutation SNP C C A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr3:133698444C>A ENST00000310926.4 - 2 388 c.115G>T c.(115-117)Ggc>Tgc p.G39C SLCO2A1_ENST00000478651.1_5'UTR|SLCO2A1_ENST00000493729.1_Missense_Mutation_p.G39C NM_005630.2 NP_005621.2 Q92959 SO2A1_HUMAN solute carrier organic anion transporter family, member 2A1 39 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 TGCAGGAGGCCTTGGCAGAGC 0.607000 6 48 0.00116845 0.00453961 0.00116845 1 0 CD1C 911 broad.mit.edu 37 1 158262541 158262541 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:158262541C>T ENST00000368170.3 + 4 1045 c.766C>T c.(766-768)Cct>Tct p.P256S NM_001765.2 NP_001756.2 P29017 CD1C_HUMAN CD1c molecule 256 Ig-like. antigen processing and presentation|T cell activation involved in immune response endosome membrane|integral to plasma membrane endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 39 all_hematologic(112;0.0378) TGATATTCTTCCTAATGCTGA 0.527000 12 101 0 0 0.00136819 0 0 HSD3B1 3283 broad.mit.edu 37 1 120056460 120056460 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:120056460C>T ENST00000235547.6 + 4 459 c.320C>T c.(319-321)aCc>aTc p.T107I HSD3B1_ENST00000369413.3_Missense_Mutation_p.T105I|HSD3B1_ENST00000528909.1_Missense_Mutation_p.T105I NM_000862.2 NP_000853.1 P14060 3BHS1_HUMAN hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 105 androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1) 32 all_neural(166;0.219) all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624) Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554) NADH(DB00157)|Trilostane(DB01108) TGGACAGGTACCCAGCTCCTG 0.512000 33 227 0 0 0.000692331 0 0 SIM1 6492 broad.mit.edu 37 6 100895167 100895167 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr6:100895167G>A ENST00000369208.3 - 9 1757 c.975C>T c.(973-975)atC>atT p.I325I SIM1_ENST00000262901.4_Silent_p.I325I P81133 SIM1_HUMAN single-minded family bHLH transcription factor 1 325 PAC. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 79 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) TGACGCTGACGATACAGTGTG 0.622000 5 41 0 0 0.000602214 0 0 NAGA 4668 broad.mit.edu 37 22 42463188 42463188 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr22:42463188G>A ENST00000396398.3 - 4 963 c.431C>T c.(430-432)aCc>aTc p.T144I NAGA_ENST00000402937.1_Missense_Mutation_p.T144I|NAGA_ENST00000403363.1_Missense_Mutation_p.T144I NM_000262.2 NP_000253.1 P17050 NAGAB_HUMAN N-acetylgalactosaminidase, alpha- 144 glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process lysosome alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1) 11 CTCGGCGAAGGTCTGAGCATC 0.612000 27 150 0 0 0.00106085 0 0 PHLDB1 23187 broad.mit.edu 37 11 118516461 118516461 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr11:118516461G>A ENST00000361417.2 + 18 3836 c.3425G>A c.(3424-3426)gGt>gAt p.G1142D PHLDB1_ENST00000534672.1_3'UTR|PHLDB1_ENST00000356063.5_Missense_Mutation_p.G1095D|PHLDB1_ENST00000527898.1_Missense_Mutation_p.G193D|PHLDB1_ENST00000524713.1_Missense_Mutation_p.G285D NM_015157.3 NP_055972.1 Q86UU1 PHLB1_HUMAN pleckstrin homology-like domain, family B, member 1 1142 breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1) 46 all_hematologic(175;0.0839) Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;3.4e-05) AGCGCGAGTGGTCTGGACATG 0.602000 9 105 0 0 0.000673444 0 0 SDE2 163859 broad.mit.edu 37 1 226183064 226183064 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:226183064G>A ENST00000272091.7 - 2 159 c.141C>T c.(139-141)ttC>ttT p.F47F SDE2_ENST00000366817.1_5'UTR NM_152608.3 NP_689821.3 SDE2 telomere maintenance homolog (S. pombe) ATTTCACAAAGAAGTTTTCCA 0.383000 8 45 0 0 0.000442599 0 0 SPOCK3 50859 broad.mit.edu 37 4 167656149 167656149 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr4:167656149C>T ENST00000357154.3 - 12 1371 c.1234G>A c.(1234-1236)Gaa>Aaa p.E412K SPOCK3_ENST00000504953.1_Missense_Mutation_p.E409K|SPOCK3_ENST00000541637.1_Missense_Mutation_p.E314K|SPOCK3_ENST00000541354.1_Missense_Mutation_p.E292K|SPOCK3_ENST00000535728.1_Missense_Mutation_p.E280K|SPOCK3_ENST00000502330.1_Missense_Mutation_p.E412K|SPOCK3_ENST00000534949.1_Missense_Mutation_p.E316K|SPOCK3_ENST00000510741.1_Missense_Mutation_p.E369K|SPOCK3_ENST00000357545.4_Missense_Mutation_p.E409K|SPOCK3_ENST00000511269.1_Missense_Mutation_p.E409K|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000512681.1_Missense_Mutation_p.E314K|SPOCK3_ENST00000506886.1_Missense_Mutation_p.E412K|SPOCK3_ENST00000421836.2_Missense_Mutation_p.E361K|SPOCK3_ENST00000511531.1_Missense_Mutation_p.E412K NM_016950.2 NP_058646.2 Q9BQ16 TICN3_HUMAN sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 412 Asp-rich. signal transduction proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase inhibitor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 38 all_hematologic(180;0.221) Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198) GBM - Glioblastoma multiforme(119;0.02) atttcatcttcatcattcata 0.353000 4 19 0 0 0.00024832 0 0 DMBT1 1755 broad.mit.edu 37 10 124345794 124345794 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr10:124345794G>A ENST00000338354.3 + 16 1784 c.1678G>A c.(1678-1680)Gac>Aac p.D560N DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000368955.3_Missense_Mutation_p.D550N|DMBT1_ENST00000368909.3_Missense_Mutation_p.D560N|DMBT1_ENST00000344338.3_Missense_Mutation_p.D550N Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 560 SRCR 4. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3) 72 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) TGTCCTGGATGACGTGCGCTG 0.592000 34 128 0 0 0.00209593 0 0 PCDHGB1 56104 broad.mit.edu 37 5 140731844 140731844 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr5:140731844G>A ENST00000523390.1 + 1 2017 c.2017G>A c.(2017-2019)Gac>Aac p.D673N PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018922.2|NM_032095.1 NP_061745.1|NP_115266.1 central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1) 16 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGACCTCAGCGACCGCCCTGA 0.607000 26 150 0 0 0.000720815 0 0 TRBV5-5 28610 broad.mit.edu 37 7 142149141 142149141 + RNA SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr7:142149141G>A ENST00000390372.3 - 0 136 CCAGAGATAGGAGAGCATCTC 0.522000 7 121 0 0 0.000157383 0 0 GPR37 2861 broad.mit.edu 37 7 124387044 124387044 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr7:124387044G>A ENST00000303921.2 - 2 2027 c.1377C>T c.(1375-1377)atC>atT p.I459I NM_005302.2 NP_005293.1 O15354 GPR37_HUMAN G protein-coupled receptor 37 (endothelin receptor type B-like) 459 endoplasmic reticulum membrane|integral to plasma membrane G-protein coupled receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 GAGAGCAGGTGATGGTGAAAA 0.473000 4 36 0 0 0.000602214 0 0 RXFP3 51289 broad.mit.edu 37 5 33937426 33937426 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr5:33937426G>A ENST00000330120.3 + 1 936 c.581G>A c.(580-582)cGa>cAa p.R194Q NM_016568.3 NP_057652.1 Q9NSD7 RL3R1_HUMAN relaxin/insulin-like family peptide receptor 3 194 integral to plasma membrane N-formyl peptide receptor activity endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3) 42 CACCGGACCCGAGGACACGGC 0.657000 8 50 0 0 0.000274275 0 0 PTPRT 11122 broad.mit.edu 37 20 40727098 40727098 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr20:40727098G>A ENST00000373198.3 - 28 4110 c.3875C>T c.(3874-3876)tCc>tTc p.S1292F PTPRT_ENST00000373187.1_Missense_Mutation_p.S1270F|PTPRT_ENST00000373201.1_Missense_Mutation_p.S1260F|PTPRT_ENST00000373193.3_Missense_Mutation_p.S1273F|PTPRT_ENST00000356100.2_Missense_Mutation_p.S1279F|PTPRT_ENST00000373184.1_Missense_Mutation_p.S1280F|PTPRT_ENST00000373190.1_Missense_Mutation_p.S1269F NM_133170.3 NP_573400.3 O14522 PTPRT_HUMAN protein tyrosine phosphatase, receptor type, T 1270 Tyrosine-protein phosphatase 2. homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway cell surface|integral to membrane|plasma membrane alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 176 Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783) CACCACAGAGGAGCAGTTGTA 0.597000 13 93 0 0 0.00185496 0 0 NR3C1 2908 broad.mit.edu 37 5 142689710 142689710 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr5:142689710G>A ENST00000343796.2 - 4 2413 c.1420C>T c.(1420-1422)Cca>Tca p.P474S NR3C1_ENST00000415690.2_Missense_Mutation_p.P474S|NR3C1_ENST00000504572.1_Missense_Mutation_p.P475S|NR3C1_ENST00000503201.1_Missense_Mutation_p.P474S|NR3C1_ENST00000394464.2_Missense_Mutation_p.P474S|NR3C1_ENST00000504336.1_5'UTR|NR3C1_ENST00000424646.2_Missense_Mutation_p.P448S|NR3C1_ENST00000394466.2_Missense_Mutation_p.P475S|NR3C1_ENST00000416954.2_Missense_Mutation_p.P77S|NR3C1_ENST00000231509.3_Missense_Mutation_p.P475S NM_001018074.1|NM_001018075.1|NM_001018077.1 NP_001018084.1|NP_001018085.1|NP_001018087.1 P04150 GCR_HUMAN nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) 474 chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter mitochondrial matrix|nucleoplasm glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 35 Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361) KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176) Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635) CGGCATGCTGGGCAGTTTTTT 0.358000 9 47 0 0 0.000673444 0 0 ZNF432 9668 broad.mit.edu 37 19 52538078 52538078 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr19:52538078C>T ENST00000594154.1 - 5 1066 c.854G>A c.(853-855)gGa>gAa p.G285E ZNF432_ENST00000221315.5_Missense_Mutation_p.G285E O94892 ZN432_HUMAN zinc finger protein 432 285 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 29 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182) GGGTTTCTCTCCAGTATGAGT 0.383000 7 75 0 0 0.000157383 0 0 GALNT8 26290 broad.mit.edu 37 12 4829910 4829910 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr12:4829910C>T ENST00000252318.2 + 1 404 c.67C>T c.(67-69)Ctc>Ttc p.L23F RP11-234B24.6_ENST00000544741.2_Intron NM_017417.1 NP_059113.1 Q9NY28 GALT8_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) 23 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding p.L23F(1) central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1) 35 TGCTGTCAATCTCCTTCTGGT 0.507000 20 90 0 0 0.00152264 0 0 MUC16 94025 broad.mit.edu 37 19 9061857 9061857 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr19:9061857C>T ENST00000397910.4 - 3 25792 c.25589G>A c.(25588-25590)gGa>gAa p.G8530E NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 8532 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GTGTGAAAATCCTGGAGATGC 0.522000 7 54 0 0 0.000157383 0 0 GRIN2A 2903 broad.mit.edu 37 16 9857657 9857657 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr16:9857657G>A ENST00000396573.2 - 14 4053 c.3744C>T c.(3742-3744)atC>atT p.I1248I GRIN2A_ENST00000535259.1_Silent_p.I1091I|GRIN2A_ENST00000562109.1_Silent_p.I1248I|GRIN2A_ENST00000396575.2_Silent_p.I1248I|GRIN2A_ENST00000404927.2_Silent_p.I1248I|GRIN2A_ENST00000330684.3_Silent_p.I1248I NM_000833.3 NP_000824.1 Q12879 NMDE1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2A 1248 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding p.I1248I(1) NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1) 198 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GGTCTTCATCGATGTCATAGA 0.547000 6 63 0 0 0.00116845 0 0 XDH 7498 broad.mit.edu 37 2 31562439 31562439 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr2:31562439G>A ENST00000379416.3 - 34 3738 c.3690C>T c.(3688-3690)atC>atT p.I1230I NM_000379.3 NP_000370.2 P47989 XDH_HUMAN xanthine dehydrogenase 1230 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) CAAATGCCGGGATCTTGTAGG 0.592000 11 110 0 0 0.000673444 0 0 OR6C68 403284 broad.mit.edu 37 12 55886277 55886277 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr12:55886277G>A ENST00000379662.1 + 1 131 c.131G>A c.(130-132)gGg>gAg p.G44E RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|OR6C68_ENST00000548615.1_Missense_Mutation_p.G39E|RP11-110A12.2_ENST00000555138.1_RNA A6NDL8 O6C68_HUMAN olfactory receptor, family 6, subfamily C, member 68 39 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 15 AGTGTAACAGGGAAACTGACC 0.393000 12 84 0 0 0.00185496 0 0 C3orf20 84077 broad.mit.edu 37 3 14744758 14744758 + Missense_Mutation SNP G G T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr3:14744758G>T ENST00000253697.3 + 6 1319 c.867G>T c.(865-867)ttG>ttT p.L289F C3orf20_ENST00000435614.1_Missense_Mutation_p.L167F|C3orf20_ENST00000412910.1_Missense_Mutation_p.L167F NM_032137.4 NP_115513.4 Q8ND61 CC020_HUMAN chromosome 3 open reading frame 20 289 cytoplasm|integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2) 40 TGCAGGAGTTGTGTCGCCACA 0.622000 22 132 2.32416e-17 9.21466e-17 0.00229938 1 0 MSLN 10232 broad.mit.edu 37 16 815237 815237 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr16:815237G>A ENST00000566549.1 + 8 1055 c.638G>A c.(637-639)gGa>gAa p.G213E MSLN_ENST00000545450.2_Missense_Mutation_p.G213E|MSLN_ENST00000382862.3_Missense_Mutation_p.G213E|MSLN_ENST00000563941.1_Missense_Mutation_p.G213E Q13421 MSLN_HUMAN mesothelin 213 cell adhesion anchored to membrane|extracellular region|Golgi apparatus|plasma membrane breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3) 20 Hepatocellular(780;0.00335) AGCTGCCCGGGACCCCTGGAC 0.697000 5 13 0 0 0.00116845 0 0 SVOPL 136306 broad.mit.edu 37 7 138313025 138313025 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr7:138313025G>A ENST00000421622.1 - 7 795 c.587C>T c.(586-588)tCa>tTa p.S196L SVOPL_ENST00000436657.1_Missense_Mutation_p.S164L|SVOPL_ENST00000419765.3_Missense_Mutation_p.S316L|SVOPL_ENST00000288513.5_Missense_Mutation_p.S164L Q8N434 SVOPL_HUMAN SVOP-like 316 integral to membrane transmembrane transporter activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 19 CGCAGAGTCTGACTTTGAACC 0.557000 18 75 0 0 0.00074312 0 0 TIMM17A 10440 broad.mit.edu 37 1 201934671 201934671 + Splice_Site SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:201934671G>A ENST00000367287.4 + 5 466 c.430_splice c.e5+1 p.G144_splice TIMM17A_ENST00000482943.1_3'UTR NM_006335.2 NP_006326.1 Q99595 TI17A_HUMAN translocase of inner mitochondrial membrane 17 homolog A (yeast) 144 protein targeting to mitochondrion integral to membrane|mitochondrial inner membrane presequence translocase complex P-P-bond-hydrolysis-driven protein transmembrane transporter activity kidney(1)|lung(3)|stomach(1) 5 GTTTCCCAATGGTGAGTCTTT 0.398000 12 66 0 0 0.000978159 0 0 KCNA10 3744 broad.mit.edu 37 1 111060492 111060492 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:111060492G>A ENST00000369771.2 - 1 1305 c.918C>T c.(916-918)atC>atT p.I306I NM_005549.2 NP_005540.1 Q16322 KCA10_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 10 306 voltage-gated potassium channel complex intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1) 35 all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301) Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134) TGATGTCAATGATGTTCATGA 0.527000 14 77 0 0 0.000308642 0 0 KMT2B 9757 broad.mit.edu 37 19 36221442 36221442 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr19:36221442C>T ENST00000222270.7 + 25 5201 c.5201C>T c.(5200-5202)tCc>tTc p.S1734F KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000420124.1_Missense_Mutation_p.S1734F NM_014727.1 NP_055542.1 ACCACAGGTTCCATCCGCATT 0.607000 45 325 0 0 0.000781405 0 0 PCDHA11 56138 broad.mit.edu 37 5 140250261 140250261 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr5:140250261G>A ENST00000398640.2 + 1 1573 c.1573G>A c.(1573-1575)Gag>Aag p.E525K PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron NM_018902.3 NP_061725.1 breast(1)|lung(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTTGGACCACGAGGAGCTGGA 0.682000 27 145 0 0 0.00127121 0 0 CCDC30 728621 broad.mit.edu 37 1 43021893 43021893 + Silent SNP A A C TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:43021893A>C ENST00000428554.2 + 12 1635 c.492A>C c.(490-492)ccA>ccC p.P164P CCDC30_ENST00000507855.1_Intron|CCDC30_ENST00000342022.4_Silent_p.P164P|CCDC30_ENST00000390640.4_Intron|CCDC30_ENST00000340612.4_Silent_p.P164P Q5VVM6 CCD30_HUMAN coiled-coil domain containing 30 164 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2) 30 GCAGTTTTCCAAGAGAGGGGC 0.413000 4 38 0 0 0.00024832 0 0 CCDC88B 283234 broad.mit.edu 37 11 64109548 64109548 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr11:64109548C>T ENST00000356786.5 + 8 802 c.758C>T c.(757-759)tCg>tTg p.S253L CCDC88B_ENST00000463837.1_3'UTR NM_032251.5 NP_115627.6 A6NC98 CC88B_HUMAN coiled-coil domain containing 88B 253 microtubule cytoskeleton organization cytoplasm microtubule binding endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 GAGGGCCCCTCGCACCATCTG 0.677000 6 19 0 0 0.00198382 0 0 NPEPPS 9520 broad.mit.edu 37 17 45668159 45668159 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr17:45668159C>T ENST00000322157.4 + 10 1409 c.1172C>T c.(1171-1173)cCa>cTa p.P391L NPEPPS_ENST00000544660.1_Missense_Mutation_p.P311L|NPEPPS_ENST00000530173.1_Missense_Mutation_p.P387L|NPEPPS_ENST00000525037.1_3'UTR NM_006310.3 NP_006301.3 P55786 PSA_HUMAN aminopeptidase puromycin sensitive 391 proteolysis cytosol|nucleus aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 27 CACTGCTTCCCAGAGTATGAT 0.413000 9 128 0 0 0.000442599 0 0 IGKV6D-41 28869 broad.mit.edu 37 2 90108975 90108975 + RNA SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr2:90108975G>A ENST00000390271.2 + 0 266 GGGTCCCCTCGAGGTTCAGTG 0.498000 7 49 0 0 0.00198382 0 0 ZNF709 163051 broad.mit.edu 37 19 12575985 12575985 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr19:12575985G>A ENST00000397732.3 - 4 922 c.751C>T c.(751-753)Ccc>Tcc p.P251S ZNF709_ENST00000428311.1_Missense_Mutation_p.P251S|CTD-3105H18.18_ENST00000598753.1_Intron NM_152601.3 NP_689814.1 Q8N972 ZN709_HUMAN zinc finger protein 709 251 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(3)|upper_aerodigestive_tract(3) 6 CATTCATAGGGTTTCTCTCCA 0.393000 6 57 0 0 0.00116845 0 0 GRK7 131890 broad.mit.edu 37 3 141499546 141499546 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr3:141499546C>T ENST00000264952.2 + 2 1080 c.943C>T c.(943-945)Cgg>Tgg p.R315W NM_139209.2 NP_631948.1 Q8WTQ7 GRK7_HUMAN G protein-coupled receptor kinase 7 315 Protein kinase. visual perception membrane ATP binding|G-protein coupled receptor kinase activity|signal transducer activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 26 CATCGTCTATCGGGACATGAA 0.587000 10 39 0 0 0.000673444 0 0 SPOCD1 90853 broad.mit.edu 37 1 32264050 32264050 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:32264050C>T ENST00000360482.2 - 8 2150 c.2021G>A c.(2020-2022)aGg>aAg p.R674K SPOCD1_ENST00000373648.2_3'UTR|SPOCD1_ENST00000257100.3_Missense_Mutation_p.R167K|SPOCD1_ENST00000533231.1_Missense_Mutation_p.R674K NM_144569.4 NP_653170.3 Q6ZMY3 SPOC1_HUMAN SPOC domain containing 1 674 TFIIS central. transcription, DNA-dependent NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2) 37 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199) STAD - Stomach adenocarcinoma(196;0.18) CACCAGGTTCCTGGGGTCCCG 0.622000 7 63 0 0 0.00198382 0 0 LGALS9C 654346 broad.mit.edu 37 17 18389395 18389395 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr17:18389395C>T ENST00000328114.6 + 3 360 c.279C>T c.(277-279)ttC>ttT p.F93F LGALS9C_ENST00000584941.1_Silent_p.F93F|LGALS9C_ENST00000581545.1_Silent_p.F93F|LGALS9C_ENST00000583322.1_Silent_p.F93F|LGALS9C_ENST00000578983.1_3'UTR|LGALS9C_ENST00000412421.2_Silent_p.F5F NM_001040078.2 NP_001035167.2 Q6DKI2 LEG9C_HUMAN lectin, galactoside-binding, soluble, 9C 93 Galectin 1. sugar binding NS(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2) 7 ACATGCCCTTCCAGAAGGGGA 0.582000 15 32 0 0 0.000422831 0 0 PCK1 5105 broad.mit.edu 37 20 56136488 56136488 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr20:56136488C>T ENST00000319441.4 + 2 185 c.21C>T c.(19-21)aaC>aaT p.N7N PCK1_ENST00000543666.1_5'UTR NM_002591.3 NP_002582.3 P35558 PCKGC_HUMAN phosphoenolpyruvate carboxykinase 1 (soluble) 7 gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus cytosol|nucleus carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 34 Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07) AGCTGCAAAACGGCCTGAACC 0.532000 21 107 0 0 0.00278032 0 0 IL23A 51561 broad.mit.edu 37 12 56733728 56733728 + Splice_Site SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr12:56733728C>T ENST00000228534.4 + 4 576 c.408_splice c.e4-1 p.P137_splice NM_016584.2 NP_057668.1 Q9NPF7 IL23A_HUMAN interleukin 23, alpha subunit p19 137 defense response to Gram-negative bacterium|inflammatory response|innate immune response|negative regulation of interleukin-10 production|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to virus|tissue remodeling interleukin-23 complex cytokine activity kidney(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1) 5 TCCTTTCAGCCTGAGGGTCAC 0.572000 17 133 0 0 0.00121646 0 0 MLLT4 4301 broad.mit.edu 37 6 168265333 168265333 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr6:168265333G>A ENST00000366806.2 + 2 350 c.208G>A c.(208-210)Gat>Aat p.D70N MLLT4_ENST00000344191.4_Missense_Mutation_p.D70N|MLLT4_ENST00000392112.1_Missense_Mutation_p.D70N|MLLT4_ENST00000400822.3_Missense_Mutation_p.D70N|MLLT4_ENST00000392108.3_Missense_Mutation_p.D70N|MLLT4_ENST00000351017.4_Missense_Mutation_p.D70N|MLLT4_ENST00000447894.2_Missense_Mutation_p.D70N P55196 AFAD_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 70 Ras-associating 1. adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction adherens junction|cell-cell junction|cytosol|nucleus protein C-terminus binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(66;1.07e-05)|Ovarian(120;0.024) Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117) CACCACTCAAGATGTAATCGA 0.438000 T MLL AL 46 237 0 0 0.00285205 0 0 SEC14L1 6397 broad.mit.edu 37 17 75190973 75190973 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr17:75190973C>T ENST00000413679.2 + 7 992 c.689C>T c.(688-690)cCc>cTc p.P230L SEC14L1_ENST00000430767.4_Missense_Mutation_p.P230L|SEC14L1_ENST00000392476.2_Missense_Mutation_p.P230L|SEC14L1_ENST00000436233.4_Missense_Mutation_p.P230L|SEC14L1_ENST00000591437.1_Missense_Mutation_p.P196L|SEC14L1_ENST00000443798.4_Missense_Mutation_p.P230L|SEC14L1_ENST00000431431.2_Missense_Mutation_p.P196L|SEC14L1_ENST00000585618.1_Missense_Mutation_p.P230L NM_001143998.1|NM_001143999.1|NM_003003.3 NP_001137470.1|NP_001137471.1|NP_002994.3 Q92503 S14L1_HUMAN SEC14-like 1 (S. cerevisiae) 230 transport Golgi apparatus|integral to membrane binding NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2) 31 GCACCTGAGCCCGTGGTGGGC 0.632000 20 63 0 0 0.000958276 0 0 ENAM 10117 broad.mit.edu 37 4 71509504 71509504 + Nonsense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr4:71509504G>A ENST00000396073.3 + 9 2642 c.2361G>A c.(2359-2361)tgG>tgA p.W787* ENAM_ENST00000472903.1_Intron NM_031889.2 NP_114095.2 Q9NRM1 ENAM_HUMAN enamelin 787 bone mineralization|odontogenesis proteinaceous extracellular matrix structural constituent of tooth enamel haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2) 6 Lung(101;0.235) GAAATATCTGGGATCAGGCAA 0.473000 6 47 0 0 0.000274275 0 0 NEDD4L 23327 broad.mit.edu 37 18 55992272 55992272 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr18:55992272C>T ENST00000456986.1 + 9 795 c.195C>T c.(193-195)caC>caT p.H65H NEDD4L_ENST00000431212.2_Silent_p.H65H|NEDD4L_ENST00000456173.2_Silent_p.H65H|NEDD4L_ENST00000400345.3_Silent_p.H186H|NEDD4L_ENST00000382850.4_Silent_p.H186H|NEDD4L_ENST00000356462.6_Silent_p.H186H|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000586263.1_Silent_p.H178H|NEDD4L_ENST00000256832.7_Silent_p.H65H|NEDD4L_ENST00000256830.9_Silent_p.H186H|NEDD4L_ENST00000435432.2_Silent_p.H65H|NEDD4L_ENST00000357895.5_Silent_p.H178H NM_001144964.1 NP_001138436.1 Q96PU5 NED4L_HUMAN neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase 186 C2. cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis cytoplasm protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4) 37 CTTCTCAGCACCAAGAGGAAC 0.493000 39 224 0 0 0.00128727 0 0 GRIN2B 2904 broad.mit.edu 37 12 13716383 13716383 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr12:13716383C>T ENST00000279593.3 - 13 3998 c.3789G>A c.(3787-3789)ctG>ctA p.L1263L NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 1263 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) CCGGCTGGTCCAGTTCCTGCA 0.592000 16 71 0 0 0.000422831 0 0 GRIN2B 2904 broad.mit.edu 37 12 13715974 13715974 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr12:13715974C>T ENST00000279593.3 - 13 4407 c.4198G>A c.(4198-4200)Ggc>Agc p.G1400S NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 1400 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) GATTTGCTGCCATGGAGCAAG 0.637000 5 47 0 0 0.000602214 0 0 HYAL4 23553 broad.mit.edu 37 7 123509071 123509071 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr7:123509071C>T ENST00000223026.4 + 3 1382 c.744C>T c.(742-744)ctC>ctT p.L248L HYAL4_ENST00000476325.1_Silent_p.L248L NM_012269.2 NP_036401.2 Q2M3T9 HYAL4_HUMAN hyaluronoglucosaminidase 4 248 fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process integral to membrane hyalurononglucosaminidase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 23 ACAATGAGCTCTCTTGGCTCT 0.443000 7 142 0 0 0.00198382 0 0 LPPR1 54886 broad.mit.edu 37 9 104079698 104079698 + Missense_Mutation SNP C C A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr9:104079698C>A ENST00000374874.3 + 7 1304 c.865C>A c.(865-867)Ccc>Acc p.P289T LPPR1_ENST00000395056.2_Missense_Mutation_p.P289T NM_207299.1 NP_997182.1 Q8TBJ4 LPPR1_HUMAN 289 integral to membrane catalytic activity TCCTTCCAAACCCAAGCCTGA 0.483000 28 207 7.26314e-15 2.8731e-14 0.00127121 1 0 NRXN2 9379 broad.mit.edu 37 11 64418075 64418075 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr11:64418075G>A ENST00000265459.6 - 15 3415 c.2954C>T c.(2953-2955)cCg>cTg p.P985L NRXN2_ENST00000377559.3_Missense_Mutation_p.P945L|AP001092.4_ENST00000433606.1_RNA|NRXN2_ENST00000409571.1_Missense_Mutation_p.P978L|NRXN2_ENST00000377551.1_Missense_Mutation_p.P985L NM_015080.3 NP_055895.1 Q9P2S2 NRX2A_HUMAN neurexin 2 985 Laminin G-like 5. cell adhesion integral to membrane metal ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 71 CATCAAGGACGGGCCATTCCC 0.587000 OREG0021057 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 64 0 0 0.00188189 0 0 NOTCH4 4855 broad.mit.edu 37 6 32188182 32188182 + Splice_Site SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr6:32188182C>T ENST00000375023.3 - 6 1297 c.1159_splice c.e6+1 p.G387_splice NM_004557.3 NP_004548.3 Q99466 NOTC4_HUMAN notch 4 387 EGF-like 9; calcium-binding (Potential). cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 ACCCCCATACCTGTGCGTCCA 0.597000 49 242 0 0 0.000781405 0 0 OR4D2 124538 broad.mit.edu 37 17 56247769 56247769 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr17:56247769C>T ENST00000545221.1 + 1 753 c.753C>T c.(751-753)ttC>ttT p.F251F NM_001004707.3 NP_001004707.1 P58180 OR4D2_HUMAN olfactory receptor, family 4, subfamily D, member 2 251 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1) 26 CCATGATCTTCGTTCCAAGCA 0.537000 11 121 0 0 0.00136819 0 0 TSG101 7251 broad.mit.edu 37 11 18528434 18528434 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr11:18528434G>A ENST00000536719.1 - 6 652 c.518C>T c.(517-519)cCa>cTa p.P173L TSG101_ENST00000357193.3_Missense_Mutation_p.P68L|TSG101_ENST00000251968.3_Missense_Mutation_p.P173L|TSG101_ENST00000543087.1_5'UTR Q99816 TS101_HUMAN tumor susceptibility 101 173 cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane calcium-dependent protein binding|DNA binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 22 GGATGGGTATGGAGAGATTCC 0.343000 12 84 0 0 0.000422831 0 0 EFS 10278 broad.mit.edu 37 14 23828855 23828855 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr14:23828855C>T ENST00000216733.3 - 4 1439 c.832G>A c.(832-834)Gac>Aac p.D278N EFS_ENST00000429593.2_Missense_Mutation_p.D109N|EFS_ENST00000351354.3_Missense_Mutation_p.D185N NM_005864.2 NP_005855.1 O43281 EFS_HUMAN embryonal Fyn-associated substrate 278 Pro-rich. cell adhesion|intracellular signal transduction cytoplasm SH3 domain binding endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2) 16 all_cancers(95;7.12e-06) GBM - Glioblastoma multiforme(265;0.00649) GCCAGGGTGTCCTGGTCATGG 0.711000 5 40 0 0 0.00116845 0 0 SPACA1 81833 broad.mit.edu 37 6 88768457 88768457 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr6:88768457C>T ENST00000237201.1 + 4 508 c.391C>T c.(391-393)Ctt>Ttt p.L131F NM_030960.2 NP_112222.1 Q9HBV2 SACA1_HUMAN sperm acrosome associated 1 131 integral to membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2) 20 all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011) BRCA - Breast invasive adenocarcinoma(108;0.11) TTCAGAAAGTCTTGAAAGTGT 0.313000 4 29 0 0 0.00116845 0 0 KCND2 3751 broad.mit.edu 37 7 119915597 119915597 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr7:119915597C>T ENST00000331113.4 + 1 1876 c.911C>T c.(910-912)tCc>tTc p.S304F NM_012281.2 NP_036413.1 Q9NZV8 KCND2_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 2 304 regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 75 all_neural(327;0.117) TTTAAGTTTTCCCGCCACTCT 0.517000 33 48 0 0 0.00058488 0 0 OR10A4 283297 broad.mit.edu 37 11 6898467 6898467 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr11:6898467G>A ENST00000379829.2 + 1 612 c.589G>A c.(589-591)Gaa>Aaa p.E197K NM_207186.2 NP_997069.2 Q9H209 O10A4_HUMAN olfactory receptor, family 10, subfamily A, member 4 197 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 31 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) CTCTGTGTTTGAACTGGAGGC 0.498000 10 65 0 0 0.000978159 0 0 SCARF1 8578 broad.mit.edu 37 17 1538791 1538791 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr17:1538791G>A ENST00000263071.4 - 11 1803 c.1754C>T c.(1753-1755)gCc>gTc p.A585V SCARF1_ENST00000571272.1_3'UTR|SCARF1_ENST00000348987.3_Missense_Mutation_p.A499V NM_003693.2|NM_145350.1 NP_003684.2|NP_663325.1 Q14162 SREC_HUMAN scavenger receptor class F, member 1 585 Pro/Ser-rich. cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis integral to membrane low-density lipoprotein particle binding|scavenger receptor activity cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) TGGCCGCTTGGCCCGAGCTAG 0.672000 19 98 0 0 0.00229938 0 0 OR5T3 390154 broad.mit.edu 37 11 56020261 56020261 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr11:56020261C>T ENST00000303059.3 + 1 586 c.586C>T c.(586-588)Ctg>Ttg p.L196L NM_001004747.1 NP_001004747.1 Q8NGG3 OR5T3_HUMAN olfactory receptor, family 5, subfamily T, member 3 196 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 39 Esophageal squamous(21;0.00448) TACATTTAGCCTGTCCTTCTG 0.433000 20 125 0 0 0.00152264 0 0 PLS1 5357 broad.mit.edu 37 3 142430824 142430824 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr3:142430824G>A ENST00000337777.3 + 16 2078 c.1865G>A c.(1864-1866)gGa>gAa p.G622E PLS1_ENST00000497002.1_Missense_Mutation_p.G622E|PLS1_ENST00000457734.2_Missense_Mutation_p.G622E NM_002670.2 NP_002661.2 Q14651 PLSI_HUMAN plastin 1 622 Actin-binding 2.|CH 4. cytoplasm actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1) 27 TGCTTAATGGGAAAAGGACTG 0.388000 18 85 0 0 0.00121646 0 0 TAF1L 138474 broad.mit.edu 37 9 32630177 32630177 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr9:32630177C>T ENST00000242310.4 - 1 5490 c.5401G>A c.(5401-5403)Gga>Aga p.G1801R NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 1801 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) CCACCATATCCCACATCAGAG 0.468000 12 72 0 0 0.00185496 0 0 BRINP1 1620 broad.mit.edu 37 9 121929643 121929643 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr9:121929643G>A ENST00000265922.3 - 8 2466 c.2005C>T c.(2005-2007)Ctg>Ttg p.L669L DBC1_ENST00000482797.1_Intron NM_014618.2 NP_055433.2 O60477 DBC1_HUMAN 669 cell cycle arrest|cell death cytoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 GCACTGCGCAGGAGGTCGGCG 0.572000 21 137 0 0 0.00188189 0 0 COL21A1 81578 broad.mit.edu 37 6 55925592 55925592 + Splice_Site SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr6:55925592C>T ENST00000244728.5 - 27 2751 c.2352_splice c.e27-1 p.G785_splice COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000370819.1_Splice_Site_p.G782_splice|COL21A1_ENST00000370808.2_Splice_Site_p.G185_splice|COL21A1_ENST00000535941.1_Splice_Site_p.G785_splice NM_030820.3 NP_110447.2 Q96P44 COLA1_HUMAN collagen, type XXI, alpha 1 785 Collagen-like 5. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2) 41 Lung NSC(77;0.0483) LUSC - Lung squamous cell carcinoma(124;0.181) AAACTCTCTTCCCTGCATCAA 0.318000 4 12 0 0 0.000602214 0 0 ZNF521 25925 broad.mit.edu 37 18 22804971 22804971 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr18:22804971G>A ENST00000361524.3 - 4 3059 c.2911C>T c.(2911-2913)Ctt>Ttt p.L971F ZNF521_ENST00000538137.2_Missense_Mutation_p.L971F|ZNF521_ENST00000584787.1_Missense_Mutation_p.L751F NM_015461.2 NP_056276.1 Q96K83 ZN521_HUMAN zinc finger protein 521 971 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 149 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) AGAGTTAAAAGGGAGGGAAAC 0.478000 T PAX5 ALL 16 61 0 0 0.000422831 0 0 PTPN22 26191 broad.mit.edu 37 1 114380623 114380623 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:114380623C>T ENST00000359785.5 - 13 1534 c.1399G>A c.(1399-1401)Gaa>Aaa p.E467K PTPN22_ENST00000538253.1_Missense_Mutation_p.E223K|PTPN22_ENST00000528414.1_Missense_Mutation_p.E412K|PTPN22_ENST00000525799.1_Missense_Mutation_p.E340K|PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000420377.2_Missense_Mutation_p.E467K NM_001193431.1|NM_015967.5 NP_001180360.1|NP_057051.3 Q9Y2R2 PTN22_HUMAN protein tyrosine phosphatase, non-receptor type 22 (lymphoid) 467 negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation internal side of plasma membrane|nucleus|perinuclear region of cytoplasm kinase binding|protein tyrosine phosphatase activity|SH3 domain binding p.E467K(1) NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Lung SC(450;0.184) all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GAAAAGTTTTCCTTGCTGTCC 0.373000 7 78 0 0 0.000274275 0 0 ACTN4 81 broad.mit.edu 37 19 39191312 39191312 + Nonsense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr19:39191312C>T ENST00000252699.2 + 2 311 c.235C>T c.(235-237)Cga>Tga p.R79* ACTN4_ENST00000424234.2_Nonsense_Mutation_p.R79*|ACTN4_ENST00000390009.3_Intron NM_004924.4 NP_004915.2 O43707 ACTN4_HUMAN actinin, alpha 4 79 Actin-binding.|CH 1. platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3) 30 all_cancers(60;1.57e-05)|Ovarian(47;0.103) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) TGAGGACTTCCGAGACGGGCT 0.607000 8 40 0 0 0.000274275 0 0 SPEN 23013 broad.mit.edu 37 1 16199550 16199550 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:16199550G>A ENST00000375759.3 + 2 527 c.323G>A c.(322-324)aGa>aAa p.R108K NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 108 interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) TCTGGGTTCAGAGGAGGTGGT 0.527000 10 89 0 0 0.000442599 0 0 KCND3 3752 broad.mit.edu 37 1 112329723 112329723 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:112329723C>T ENST00000369697.1 - 2 1181 c.1112G>A c.(1111-1113)gGa>gAa p.G371E KCND3_ENST00000315987.2_Missense_Mutation_p.G371E|KCND3_ENST00000302127.4_Missense_Mutation_p.G371E Q9UK17 KCND3_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 3 371 sarcolemma|voltage-gated potassium channel complex A-type (transient outward) potassium channel activity|metal ion binding NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 49 all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05) all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231) CACCATGTCTCCGTATCTGAG 0.522000 6 74 0 0 0.000157383 0 0 CYP2C19 1557 broad.mit.edu 37 10 96612490 96612490 + Splice_Site SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr10:96612490G>A ENST00000371321.3 + 9 1374 c.1291_splice c.e9-1 p.G431_splice CYP2C19_ENST00000464755.1_3'UTR NM_000769.1 NP_000760.1 P33261 CP2CJ_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 19 431 exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 43 Colorectal(252;0.09) all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838) Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582) TTATTTTCAGGAAAACGGATT 0.423000 4 30 0 0 0.00024832 0 0 NLRP14 338323 broad.mit.edu 37 11 7091610 7091610 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr11:7091610G>A ENST00000299481.4 + 11 3415 c.3069G>A c.(3067-3069)caG>caA p.Q1023Q NM_176822.3 NP_789792.1 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 1023 cell differentiation|multicellular organismal development|spermatogenesis ATP binding breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 21 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) ATCTGACACAGAATACCTTAG 0.383000 9 40 0 0 0.000274275 0 0 ZNF235 9310 broad.mit.edu 37 19 44791801 44791801 + Missense_Mutation SNP T T G TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr19:44791801T>G ENST00000291182.4 - 5 1889 c.1787A>C c.(1786-1788)gAa>gCa p.E596A ZNF235_ENST00000589248.1_Intron|ZNF235_ENST00000589799.1_Intron NM_004234.4 NP_004225.3 Q14590 ZN235_HUMAN zinc finger protein 235 596 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 29 Prostate(69;0.0352)|all_neural(266;0.116) GAATGGTTTTTCCCCAGTGTG 0.483000 10 66 0 0 0.000673444 0 0 KIAA0226L 80183 broad.mit.edu 37 13 46946262 46946262 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr13:46946262G>A ENST00000429979.1 - 3 953 c.349C>T c.(349-351)Ccc>Tcc p.P117S KIAA0226L_ENST00000480935.1_5'UTR|KIAA0226L_ENST00000378797.2_Missense_Mutation_p.P117S|KIAA0226L_ENST00000409879.2_Intron|KIAA0226L_ENST00000389908.3_Missense_Mutation_p.P117S|KIAA0226L_ENST00000378787.3_Missense_Mutation_p.P117S|KIAA0226L_ENST00000378781.3_Missense_Mutation_p.P117S|KIAA0226L_ENST00000378784.4_Missense_Mutation_p.P50S|KIAA0226L_ENST00000534925.1_5'UTR|KIAA0226L_ENST00000322896.6_Intron NM_025113.2 NP_079389.2 Q9H714 CM018_HUMAN KIAA0226-like 117 Ser-rich. NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1) 26 GAGCCATGGGGAGAAGCGCTG 0.582000 9 69 0 0 0.000274275 0 0 MTERFD3 80298 broad.mit.edu 37 12 107372306 107372306 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr12:107372306G>A ENST00000552029.1 - 2 2255 c.187C>T c.(187-189)Cgt>Tgt p.R63C MTERFD3_ENST00000392830.2_Missense_Mutation_p.R63C|MTERFD3_ENST00000240050.4_Missense_Mutation_p.R63C|C12orf23_ENST00000551237.1_3'UTR Q49AM1 MTER3_HUMAN MTERF domain containing 3 63 regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrial nucleoid transcription regulatory region DNA binding breast(1)|kidney(1)|large_intestine(2)|lung(3) 7 TTTAATCTACGAATTTTCCTA 0.368000 14 97 0 0 0.000422831 0 0 SUPT16H 11198 broad.mit.edu 37 14 21836515 21836515 + Silent SNP A A G TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr14:21836515A>G ENST00000216297.2 - 7 1206 c.868T>C c.(868-870)Ttg>Ctg p.L290L NM_007192.3 NP_009123.1 Q9Y5B9 SP16H_HUMAN suppressor of Ty 16 homolog (S. cerevisiae) 290 DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction chromosome|nucleoplasm GTP binding breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 all_cancers(95;0.00115) Epithelial(56;1.62e-06)|all cancers(55;1.49e-05) GBM - Glioblastoma multiforme(265;0.0159) TCAACCATCAAAGTGCGAACA 0.423000 7 50 0 0 0.00198382 0 0 KLK8 11202 broad.mit.edu 37 19 51504413 51504413 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr19:51504413G>A ENST00000600767.1 - 3 500 c.11C>T c.(10-12)cCc>cTc p.P4L KLK8_ENST00000347619.4_Missense_Mutation_p.P4L|KLK8_ENST00000593490.1_Missense_Mutation_p.P4L|KLK9_ENST00000376832.4_3'UTR|KLK8_ENST00000391806.2_Missense_Mutation_p.P4L|KLK8_ENST00000320838.5_Missense_Mutation_p.P4L|CTB-147C22.9_ENST00000594512.1_RNA|KLK9_ENST00000250366.6_3'UTR|KLK8_ENST00000291726.7_Missense_Mutation_p.P4L O60259 KLK8_HUMAN kallikrein-related peptidase 8 4 cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding cytoplasm|extracellular space protein binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1) 15 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888) ACGAGGTCGGGGGCGTCCCAT 0.657000 4 33 0 0 0.00024832 0 0 IGHV1-46 28465 broad.mit.edu 37 14 106967407 106967407 + RNA SNP T T A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr14:106967407T>A ENST00000390622.2 - 0 350 AAAAAATCCCTTCCTCAGCCC 0.552000 12 55 0 0 0.00244969 0 0 TIMM22 29928 broad.mit.edu 37 17 900467 900467 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr17:900467C>T ENST00000327158.3 + 1 111 c.85C>T c.(85-87)Ctg>Ttg p.L29L NM_013337.2 NP_037469.2 Q9Y584 TIM22_HUMAN translocase of inner mitochondrial membrane 22 homolog (yeast) 29 transmembrane transport integral to membrane|mitochondrial inner membrane protein transporter activity breast(2)|endometrium(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1) 7 UCEC - Uterine corpus endometrioid carcinoma (25;0.022) CAGCCTGCTCCTGCAGTACCT 0.672000 11 36 0 0 0.00185496 0 0 HYKK 123688 broad.mit.edu 37 15 78825602 78825602 + Missense_Mutation SNP A A C TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr15:78825602A>C ENST00000388988.4 + 5 825 c.712A>C c.(712-714)Aag>Cag p.K238Q HYKK_ENST00000569878.1_Missense_Mutation_p.K238Q|HYKK_ENST00000408962.2_Intron|HYKK_ENST00000563233.1_Intron NM_001013619.2 NP_001013641.2 hydroxylysine kinase AGAGTCCAGCAAGTCAGCCTC 0.353000 9 45 0 0 0.000673444 0 0 MAGI2 9863 broad.mit.edu 37 7 77755082 77755082 + Missense_Mutation SNP C C T rs139559003 TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr7:77755082C>T ENST00000354212.4 - 20 3749 c.3496G>A c.(3496-3498)Gaa>Aaa p.E1166K MAGI2_ENST00000522391.1_Missense_Mutation_p.E1166K|MAGI2_ENST00000419488.1_Missense_Mutation_p.E1152K NM_012301.3 NP_036433.2 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 2 1166 PDZ 6. cell junction|synapse|synaptosome phosphatase binding p.E1166K(1) 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) ATTTTGTATTCCCTTCCTCCA 0.413000 13 53 0 0 0.00185496 0 0 TIMM17A 10440 broad.mit.edu 37 1 201934672 201934672 + Splice_Site SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:201934672G>A ENST00000367287.4 + 5 466 c.e5+1 TIMM17A_ENST00000482943.1_Splice_Site NM_006335.2 NP_006326.1 Q99595 TI17A_HUMAN translocase of inner mitochondrial membrane 17 homolog A (yeast) protein targeting to mitochondrion integral to membrane|mitochondrial inner membrane presequence translocase complex P-P-bond-hydrolysis-driven protein transmembrane transporter activity kidney(1)|lung(3)|stomach(1) 5 TTTCCCAATGGTGAGTCTTTT 0.393000 12 63 0 0 0.000978159 0 0 ZNF558 148156 broad.mit.edu 37 19 8921958 8921958 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr19:8921958C>T ENST00000601372.1 - 10 1919 c.1208G>A c.(1207-1209)tGa>tAa p.*403* ZNF558_ENST00000444186.2_Silent_p.*332*|ZNF558_ENST00000301475.1_Silent_p.*403* Q96NG5 ZN558_HUMAN zinc finger protein 558 0 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1) 15 TGCAGTAATTCATATCCATCT 0.378000 6 41 0 0 0.00116845 0 0 ZNF85 7639 broad.mit.edu 37 19 21131569 21131569 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr19:21131569C>T ENST00000601023.1 + 2 718 c.72C>T c.(70-72)gcC>gcT p.A24A ZNF85_ENST00000597314.1_3'UTR|ZNF85_ENST00000345030.6_Silent_p.A50A|ZNF85_ENST00000328178.8_Silent_p.A83A Q03923 ZNF85_HUMAN zinc finger protein 85 83 KRAB. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2) 20 CTCATTTTGCCCAAGACCTTT 0.299000 4 50 0 0 0.000602214 0 0 PCDHA7 56141 broad.mit.edu 37 5 140215068 140215068 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr5:140215068C>T ENST00000525929.1 + 1 1100 c.1100C>T c.(1099-1101)aCc>aTc p.T367I PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.T367I NM_018910.2 NP_061733.1 NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAACCAGGTACCGTCATCACA 0.512000 29 137 0 0 0.00106085 0 0 SLC34A2 10568 broad.mit.edu 37 4 25673303 25673303 + Nonsense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr4:25673303G>A ENST00000382051.3 + 9 1058 c.1008G>A c.(1006-1008)tgG>tgA p.W336* SLC34A2_ENST00000504570.1_Nonsense_Mutation_p.W335*|SLC34A2_ENST00000503434.1_Nonsense_Mutation_p.W335* NM_001177998.1|NM_006424.2 NP_001171469.1|NP_006415.2 O95436 NPT2B_HUMAN solute carrier family 34 (type II sodium/phosphate contransporter), member 2 336 cellular phosphate ion homeostasis apical plasma membrane|brush border membrane|integral to plasma membrane phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity SLC34A2/ROS1(14) breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4) 41 Breast(46;0.0503) TCCAAAACTGGACCATGAAGA 0.498000 T ROS1 NSCLC 31 164 0 0 0.00178596 0 0 FCGBP 8857 broad.mit.edu 37 19 40366477 40366477 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr19:40366477C>T ENST00000221347.6 - 30 13764 c.13757G>A c.(13756-13758)gGg>gAg p.G4586E NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 4586 VWFD 11. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) CAGCGAGAGCCCTGAGGTTGT 0.667000 15 66 0 0 0.000308642 0 0 SIRPG 55423 broad.mit.edu 37 20 1616836 1616836 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr20:1616836C>T ENST00000381580.1 - 3 826 c.647G>A c.(646-648)cGa>cAa p.R216Q SIRPG_ENST00000303415.3_Missense_Mutation_p.R249Q|SIRPG_ENST00000344103.4_Intron|RP11-77C3.3_ENST00000456177.1_RNA|SIRPG_ENST00000381583.2_Missense_Mutation_p.R249Q|SIRPG_ENST00000216927.4_Missense_Mutation_p.R249Q Q9P1W8 SIRPG_HUMAN signal-regulatory protein gamma 249 Ig-like C1-type 1. blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation integral to membrane|intracellular|plasma membrane protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1) 27 TCCTCTACCTCGGATGGCCTC 0.622000 8 55 0 0 0.000442599 0 0 SLC24A4 123041 broad.mit.edu 37 14 92958550 92958550 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr14:92958550C>T ENST00000532405.1 + 16 1908 c.1682C>T c.(1681-1683)tCc>tTc p.S561F SLC24A4_ENST00000351924.5_Missense_Mutation_p.S525F|SLC24A4_ENST00000531433.1_Missense_Mutation_p.S542F|SLC24A4_ENST00000393265.2_Missense_Mutation_p.S497F|SLC24A4_ENST00000298877.1_Missense_Mutation_p.S544F Q8NFF2 NCKX4_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 561 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) CTGGTCTATTCCGTGGTCCTG 0.512000 26 162 0 0 0.00127121 0 0 SHANK2 22941 broad.mit.edu 37 11 70348958 70348958 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr11:70348958G>A ENST00000338508.4 - 24 2142 c.2143C>T c.(2143-2145)Ctt>Ttt p.L715F SHANK2_ENST00000449833.2_Missense_Mutation_p.L126F|SHANK2_ENST00000409530.1_Missense_Mutation_p.L125F|SHANK2_ENST00000423696.2_Missense_Mutation_p.L335F|SHANK2_ENST00000357171.3_Missense_Mutation_p.L126F|SHANK2_ENST00000409161.1_Missense_Mutation_p.L125F|SHANK2_ENST00000449116.2_Missense_Mutation_p.L126F Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 335 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) ACCACCTTAAGGACCAGGTGA 0.587000 17 104 0 0 0.000958276 0 0 NOL3 8996 broad.mit.edu 37 16 67208641 67208641 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr16:67208641G>A ENST00000432069.2 + 5 985 c.413G>A c.(412-414)gGc>gAc p.G138D NOL3_ENST00000268605.7_Missense_Mutation_p.G138D|NOL3_ENST00000568146.1_Missense_Mutation_p.A135T|NOL3_ENST00000564053.1_Missense_Mutation_p.G200D NM_001276309.1|NM_001276312.1|NM_001276319.1 NP_001263238.1|NP_001263241.1|NP_001263248.1 O60936 NOL3_HUMAN nucleolar protein 3 (apoptosis repressor with CARD domain) 138 anti-apoptosis|apoptosis|mRNA processing|RNA splicing cytosol|nucleolus identical protein binding|RNA binding ovary(1) 1 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184) GAGGCCGGGGGCCCTGAGGGC 0.697000 5 22 0 0 0.000602214 0 0 KLHDC7A 127707 broad.mit.edu 37 1 18808297 18808297 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:18808297C>T ENST00000400664.1 + 1 874 c.822C>T c.(820-822)ttC>ttT p.F274F NM_152375.2 NP_689588.2 Q5VTJ3 KLD7A_HUMAN kelch domain containing 7A 274 integral to membrane endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 22 Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) AGGAGCATTTCATACAGAAGG 0.592000 26 113 0 0 0.00178596 0 0 MAP3K15 389840 broad.mit.edu 37 X 19378893 19378893 + Missense_Mutation SNP C C A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chrX:19378893C>A ENST00000338883.4 - 29 3915 c.3916G>T c.(3916-3918)Gcc>Tcc p.A1306S MAP3K15_ENST00000518578.1_5'UTR|PDHA1_ENST00000422285.2_3'UTR|PDHA1_ENST00000540249.1_3'UTR|MAP3K15_ENST00000359173.3_Missense_Mutation_p.A741S|PDHA1_ENST00000545074.1_3'UTR|PDHA1_ENST00000379806.5_3'UTR|MAP3K15_ENST00000469203.2_Missense_Mutation_p.A1138S NM_001001671.3 NP_001001671.3 Q6ZN16 M3K15_HUMAN mitogen-activated protein kinase kinase kinase 15 1306 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) GTTTCTGAGGCCTCCTGAGCC 0.502000 6 22 8.12818e-05 0.000316854 0.00198382 1 0 TNR 7143 broad.mit.edu 37 1 175355337 175355337 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:175355337C>T ENST00000367674.1 - 8 2316 c.1608G>A c.(1606-1608)ttG>ttA p.L536L TNR_ENST00000263525.2_Silent_p.L536L NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 536 Fibronectin type-III 3. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) GGCCATATTTCAAAAGAATGA 0.597000 7 20 0 0 0.000157383 0 0 SCN10A 6336 broad.mit.edu 37 3 38738847 38738847 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr3:38738847C>T ENST00000449082.2 - 27 5863 c.5864G>A c.(5863-5865)gGg>gAg p.G1955E NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 1955 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) TCACTAGGGCCCAGGGGCAAT 0.483000 13 79 0 0 0.00244969 0 0 METTL24 728464 broad.mit.edu 37 6 110620292 110620292 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr6:110620292G>A ENST00000338882.4 - 4 618 c.619C>T c.(619-621)Cgt>Tgt p.R207C NM_001123364.1 NP_001116836.1 Q5JXM2 CF186_HUMAN methyltransferase like 24 207 extracellular region GGATCAAAACGATGCACTTCA 0.468000 17 72 0 0 0.000566183 0 0 BCL11A 53335 broad.mit.edu 37 2 60688062 60688062 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr2:60688062C>T ENST00000335712.6 - 4 2212 c.1985G>A c.(1984-1986)gGc>gAc p.G662D BCL11A_ENST00000537768.1_Missense_Mutation_p.G331D|BCL11A_ENST00000356842.4_Missense_Mutation_p.G662D|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000358510.4_Missense_Mutation_p.G628D|BCL11A_ENST00000538214.1_Missense_Mutation_p.G628D NM_022893.3 NP_075044.2 Q9H165 BC11A_HUMAN B-cell CLL/lymphoma 11A (zinc finger protein) 662 negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 59 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) GGCCGCGTAGCCGGCGAGCCA 0.622000 T IGH@ B-CLL 48 319 0 0 0.000781405 0 0 FAM183B 340286 broad.mit.edu 37 7 38725419 38725419 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr7:38725419C>T ENST00000409072.3 - 2 1121 c.187G>A c.(187-189)Gca>Aca p.A63T family with sequence similarity 183, member B p.A63S(2) endometrium(1)|lung(7) 8 CTGGCGTCTGCGGGTTCCTCC 0.537000 16 74 0 0 0.000422831 0 0 ERCC6 2074 broad.mit.edu 37 10 50740647 50740647 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr10:50740647G>A ENST00000355832.5 - 2 442 c.364C>T c.(364-366)Cgt>Tgt p.R122C ERCC6-PGBD3_ENST00000515869.1_Missense_Mutation_p.R122C|PGBD3_ENST00000603152.1_Missense_Mutation_p.R122C|ERCC6-PGBD3_ENST00000447839.2_Missense_Mutation_p.R122C NM_000124.2 NP_000115.1 Q03468 ERCC6_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6 122 base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair nucleolus|soluble fraction|transcription elongation factor complex ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 TGGGAGGCACGGCTGGCCTCA 0.572000 Direct reversal of damage;Nucleotide excision repair (NER) 7 66 0 0 0.000157383 0 0 TRBV20-1 28567 broad.mit.edu 37 7 142334850 142334850 + RNA SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr7:142334850C>T ENST00000390394.3 + 0 350 CTGACCTTGTCCACTCTGACA 0.547000 38 72 0 0 0.000953801 0 0 ARHGAP8 23779 broad.mit.edu 37 22 45244822 45244822 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr22:45244822G>A ENST00000517296.3 + 15 1389 c.1389G>A c.(1387-1389)gtG>gtA p.V463V ARHGAP8_ENST00000356099.6_Silent_p.V253V|ARHGAP8_ENST00000389774.2_Silent_p.V284V|PRR5-ARHGAP8_ENST00000361473.5_Silent_p.V384V|ARHGAP8_ENST00000336963.4_Silent_p.V253V|ARHGAP8_ENST00000389773.5_Silent_p.V375V|PRR5-ARHGAP8_ENST00000352766.7_Silent_p.V463V Rho GTPase activating protein 8 breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(9)|prostate(1)|skin(7) 29 all_neural(38;0.00409)|Ovarian(80;0.00976)|Glioma(61;0.0649) UCEC - Uterine corpus endometrioid carcinoma (28;0.0204) GGAAGCCCGTGAACTTTGACG 0.617000 17 108 0 0 0.000422831 0 0 KAL1 3730 broad.mit.edu 37 X 8507772 8507772 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chrX:8507772C>T ENST00000262648.3 - 10 1531 c.1382G>A c.(1381-1383)cGg>cAg p.R461Q NM_000216.2 NP_000207.2 P23352 KALM_HUMAN Kallmann syndrome 1 sequence 461 Fibronectin type-III 3. axon guidance|cell adhesion|cellular component movement extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1) 32 AGGAAACCACCGCACATGATA 0.478000 10 26 0 0 0.000978159 0 0 ARID3B 10620 broad.mit.edu 37 15 74887989 74887989 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr15:74887989C>T ENST00000346246.5 + 9 1788 c.1557C>T c.(1555-1557)atC>atT p.I519I NM_006465.2 NP_006456.1 Q8IVW6 ARI3B_HUMAN AT rich interactive domain 3B (BRIGHT-like) 520 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2) 14 TCCACCTCATCACGGGGTCTG 0.637000 7 41 0 0 0.00198382 0 0 LRRN1 57633 broad.mit.edu 37 3 3886533 3886533 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr3:3886533C>T ENST00000319331.3 + 2 969 c.208C>T c.(208-210)Ctc>Ttc p.L70F SUMF1_ENST00000534863.1_Intron NM_020873.5 NP_065924.3 Q6UXK5 LRRN1_HUMAN leucine rich repeat neuronal 1 70 LRRNT. integral to membrane NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2) 26 Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617) TCCCAGTAACCTCTCTAGTGA 0.453000 6 62 0 0 0.00116845 0 0 CNGB1 1258 broad.mit.edu 37 16 57918086 57918086 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr16:57918086C>T ENST00000564448.1 - 33 3780 c.3720G>A c.(3718-3720)agG>agA p.R1240R CNGB1_ENST00000251102.8_Silent_p.R1246R Q14028 CNGB1_HUMAN cyclic nucleotide gated channel beta 1 1246 sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 54 CCTTCTCCTCCCTTTCCTCCG 0.711000 13 87 0 0 0.000422831 0 0 PTPRS 5802 broad.mit.edu 37 19 5246048 5246048 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr19:5246048C>T ENST00000372412.4 - 10 963 c.730G>A c.(730-732)Gtg>Atg p.V244M PTPRS_ENST00000262963.6_Missense_Mutation_p.V239M|PTPRS_ENST00000592099.1_Missense_Mutation_p.V230M|PTPRS_ENST00000348075.2_Missense_Mutation_p.V230M|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000357368.4_Missense_Mutation_p.V243M|PTPRS_ENST00000588012.1_Missense_Mutation_p.V230M|PTPRS_ENST00000587303.1_Missense_Mutation_p.V243M|PTPRS_ENST00000353284.2_Missense_Mutation_p.V230M Q13332 PTPRS_HUMAN protein tyrosine phosphatase, receptor type, S 243 cell adhesion integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1) 61 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182) CGCGGGGCCACGCGGCGGACT 0.677000 4 9 0 0 0.00024832 0 0 SLAMF6 114836 broad.mit.edu 37 1 160460440 160460440 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:160460440G>A ENST00000368059.3 - 4 751 c.682C>T c.(682-684)Ctg>Ttg p.L228L SLAMF6_ENST00000368057.3_Silent_p.L228L|SLAMF6_ENST00000368055.1_Silent_p.L117L NM_001184714.1|NM_001184715.1|NM_001184716.1|NM_052931.4 NP_001171643.1|NP_001171644.1|NP_001171645.1|NP_443163.1 Q96DU3 SLAF6_HUMAN SLAM family member 6 228 integral to membrane|plasma membrane receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4) 22 all_cancers(52;1.05e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0923) ACCATAAACAGAATCATTTTG 0.368000 4 28 0 0 0.00116845 0 0 TTN 7273 broad.mit.edu 37 2 179572470 179572470 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr2:179572470C>T ENST00000589042.1 - 100 29048 c.28824G>A c.(28822-28824)caG>caA p.Q9608Q TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Silent_p.Q8364Q|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.Q9291Q|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 9291 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) GGCAGCTGAGCTGCACGTATT 0.463000 5 61 0 0 0.000602214 0 0 ADAMTS8 11095 broad.mit.edu 37 11 130289092 130289092 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr11:130289092G>A ENST00000257359.6 - 2 1522 c.816C>T c.(814-816)atC>atT p.I272I NM_007037.4 NP_008968.4 Q9UP79 ATS8_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 8 272 Peptidase M12B. negative regulation of cell proliferation|proteolysis proteinaceous extracellular matrix heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 10 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213) CATCTTCTACGATCAGCACTT 0.527000 25 128 0 0 0.000720815 0 0 KCNK5 8645 broad.mit.edu 37 6 39159209 39159209 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr6:39159209C>T ENST00000359534.3 - 5 1295 c.957G>A c.(955-957)ggG>ggA p.G319G NM_003740.3 NP_003731.1 O95279 KCNK5_HUMAN potassium channel, subfamily K, member 5 319 excretion integral to plasma membrane potassium channel activity|voltage-gated ion channel activity central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3) 19 GGCCCGTCTCCCCACCCCCGC 0.617000 13 98 0 0 0.00185496 0 0 FLG 2312 broad.mit.edu 37 1 152283934 152283934 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:152283934C>T ENST00000368799.1 - 3 3463 c.3428G>A c.(3427-3429)gGa>gAa p.G1143E FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1143 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GTGGTGGGATCCTTGTCTTCG 0.597000 Ichthyosis 50 250 0 0 0.000781405 0 0 SCD5 79966 broad.mit.edu 37 4 83582217 83582217 + Nonsense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr4:83582217G>A ENST00000273908.4 - 4 817 c.583C>T c.(583-585)Cag>Tag p.Q195* SCD5_ENST00000319540.4_Intron NM_024906.2 NP_079182.2 Q86SK9 SCD5_HUMAN stearoyl-CoA desaturase 5 0 fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane iron ion binding|stearoyl-CoA 9-desaturase activity p.Q195K(1) endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1) 13 Colorectal(4;0.0323)|Hepatocellular(203;0.115) CCTTCTTTCTGGATGTGCTGT 0.423000 27 184 0 0 0.00106085 0 0 ZNF8 7554 broad.mit.edu 37 19 58806168 58806168 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr19:58806168C>T ENST00000196548.5 + 4 1125 c.994C>T c.(994-996)Cgg>Tgg p.R332W AC010642.1_ENST00000591325.1_3'UTR NM_021089.2 NP_066575.2 P17098 ZNF8_HUMAN zinc finger protein 8 332 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1) 19 all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619) TACCGTCCATCGGAGGATTCA 0.572000 8 59 0 0 0.000157383 0 0 OR1A2 26189 broad.mit.edu 37 17 3101608 3101608 + Missense_Mutation SNP A A T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr17:3101608A>T ENST00000381951.1 + 1 796 c.796A>T c.(796-798)Agc>Tgc p.S266C NM_012352.1 NP_036484.1 Q9Y585 OR1A2_HUMAN olfactory receptor, family 1, subfamily A, member 2 266 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2) 18 GACCAGTTACAGCCCCAAAGA 0.448000 11 126 0 0 0.000978159 0 0 TRAF5 7188 broad.mit.edu 37 1 211526699 211526699 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:211526699G>A ENST00000261464.5 + 2 172 c.118G>A c.(118-120)Gaa>Aaa p.E40K TRAF5_ENST00000367004.3_Missense_Mutation_p.E40K|TRAF5_ENST00000462410.1_3'UTR|TRAF5_ENST00000427925.2_Missense_Mutation_p.E40K|TRAF5_ENST00000336184.2_Missense_Mutation_p.E40K NM_001033910.2 NP_001029082.1 O00463 TRAF5_HUMAN TNF receptor-associated factor 5 40 apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis CD40 receptor complex|centrosome|internal side of plasma membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144) GGAGCGGTTGGAAGAGCGCTA 0.547000 21 121 0 0 0.00152264 0 0 MC5R 4161 broad.mit.edu 37 18 13826627 13826627 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr18:13826627C>T ENST00000324750.3 + 1 1085 c.863C>T c.(862-864)tCc>tTc p.S288F NM_005913.2 NP_005904.1 P33032 MC5R_HUMAN melanocortin 5 receptor 288 G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocortin receptor activity|protein binding NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1) 41 ATGTGTAATTCCGTGATGGAC 0.458000 11 135 0 0 0.00136819 0 0 HSD11B1 3290 broad.mit.edu 37 1 209905834 209905834 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:209905834G>A ENST00000367028.2 + 6 740 c.571G>A c.(571-573)Gat>Aat p.D191N HSD11B1_ENST00000367027.3_Missense_Mutation_p.D191N|HSD11B1_ENST00000261465.1_Missense_Mutation_p.D191N NM_001206741.1 NP_001193670.1 P28845 DHI1_HUMAN hydroxysteroid (11-beta) dehydrogenase 1 191 glucocorticoid biosynthetic process endoplasmic reticulum membrane|integral to membrane 11-beta-hydroxysteroid dehydrogenase|11-beta-hydroxysteroid dehydrogenase (NADP+) activity|binding breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9) 16 OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115) NADH(DB00157) GTTTGCTTTGGATGGGTTCTT 0.428000 20 89 0 0 0.00229938 0 0 TET2 54790 broad.mit.edu 37 4 106157278 106157278 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr4:106157278G>A ENST00000513237.1 + 3 3039 c.2242G>A c.(2242-2244)Gca>Aca p.A748T TET2_ENST00000394764.1_Missense_Mutation_p.A727T|TET2_ENST00000413648.2_Missense_Mutation_p.A727T|TET2_ENST00000380013.4_Missense_Mutation_p.A727T|TET2_ENST00000545826.1_Missense_Mutation_p.A727T|TET2_ENST00000305737.2_Missense_Mutation_p.A727T|TET2_ENST00000540549.1_Missense_Mutation_p.A727T Q6N021 TET2_HUMAN tet methylcytosine dioxygenase 2 727 Gln-rich. cell cycle|myeloid cell differentiation metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.A727fs*23(1)|p.A727T(1) NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 1314 Myeloproliferative disorder(5;0.0393) OV - Ovarian serous cystadenocarcinoma(123;7.18e-08) TCATAAACAGGCAGCACAAAC 0.408000 """Mis N, F""" MDS 6 52 0 0 0.000274275 0 0 MFSD9 84804 broad.mit.edu 37 2 103335119 103335119 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr2:103335119G>A ENST00000258436.5 - 6 1228 c.1185C>T c.(1183-1185)atC>atT p.I395I NM_032718.3 NP_116107.3 Q8NBP5 MFSD9_HUMAN major facilitator superfamily domain containing 9 395 transmembrane transport integral to membrane|plasma membrane transporter activity breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1) 20 GGAGGTCCGTGATGCACGTCC 0.647000 9 45 0 0 0.000274275 0 0 CYP2C18 1562 broad.mit.edu 37 10 96454787 96454787 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr10:96454787G>A ENST00000285979.6 + 4 794 c.595G>A c.(595-597)Gaa>Aaa p.E199K CYP2C18_ENST00000339022.5_Missense_Mutation_p.E199K|CYP2C19_ENST00000464755.1_3'UTR NM_000772.2 NP_000763.1 cytochrome P450, family 2, subfamily C, polypeptide 18 NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 26 Colorectal(252;0.09) all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805) TAACTTGATGGAAAAATTCAA 0.388000 7 34 0 0 0.000274275 0 0 TRBC2 28638 broad.mit.edu 37 7 142499844 142499844 + RNA SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr7:142499844G>A ENST00000466254.1 + 0 461 TCTTGCTAGGGAAGGCCACCT 0.567000 9 75 0 0 0.000978159 0 0 FBN2 2201 broad.mit.edu 37 5 127626458 127626458 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr5:127626458C>T ENST00000508053.1 - 56 7385 c.6411G>A c.(6409-6411)ggG>ggA p.G2137G FBN2_ENST00000262464.4_Silent_p.G2137G P35556 FBN2_HUMAN fibrillin 2 2137 TB 8. bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation microfibril calcium ion binding|extracellular matrix structural constituent NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 197 all_cancers(142;0.0216)|Prostate(80;0.0551) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146) CACAGGGGTCCCCCCAGCCCT 0.463000 9 79 0 0 0.000978159 0 0 ATP8A1 10396 broad.mit.edu 37 4 42415007 42415007 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr4:42415007C>T ENST00000381668.5 - 37 3652 c.3421G>A c.(3421-3423)Gaa>Aaa p.E1141K ATP8A1_ENST00000264449.10_Missense_Mutation_p.E1126K NM_006095.2 NP_006086.1 Q9Y2Q0 AT8A1_HUMAN ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 1141 ATP biosynthetic process chromaffin granule membrane|integral to membrane|plasma membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Phosphatidylserine(DB00144) ATTCCATTTTCATCTTGAGAG 0.433000 5 22 0 0 0.000602214 0 0 DNAH3 55567 broad.mit.edu 37 16 21031009 21031009 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr16:21031009C>T ENST00000261383.3 - 41 5958 c.5959G>A c.(5959-5961)Gat>Aat p.D1987N DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 1987 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) TGGTTATCATCCATGCCCATG 0.423000 7 46 0 0 0.000157383 0 0 TUBA3C 7278 broad.mit.edu 37 13 19748170 19748170 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr13:19748170C>T ENST00000400113.3 - 5 1290 c.1186G>A c.(1186-1188)Gat>Aat p.D396N NM_006001.2 NP_005992.1 Q13748 TBA3C_HUMAN tubulin, alpha 3c 396 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1) 72 all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108) TACATGAGATCGAACTTATGG 0.642000 14 116 0 0 0.000422831 0 0 BPGM 669 broad.mit.edu 37 7 134346736 134346736 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr7:134346736G>A ENST00000393132.2 + 3 966 c.477G>A c.(475-477)aaG>aaA p.K159K BPGM_ENST00000418040.1_Silent_p.K159K|BPGM_ENST00000344924.3_Silent_p.K159K NM_199186.2 NP_954655.1 P07738 PMGE_HUMAN 2,3-bisphosphoglycerate mutase 159 glycolysis|respiratory gaseous exchange 2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity breast(1)|endometrium(1)|lung(2)|stomach(1) 5 AAAGCTTAAAGGATGTTCTGG 0.448000 11 77 0 0 0.00136819 0 0 LIN28B 389421 broad.mit.edu 37 6 105474224 105474224 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr6:105474224G>A ENST00000345080.4 + 3 453 c.250G>A c.(250-252)Gaa>Aaa p.E84K NM_001004317.3 NP_001004317.1 Q6ZN17 LN28B_HUMAN lin-28 homolog B (C. elegans) 84 CSD. miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing cytoplasm|nucleus DNA binding|protein binding|RNA binding|zinc ion binding large_intestine(1)|lung(10)|ovary(1) 12 all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204) AGAACCAGTGGAATTCACATT 0.418000 21 111 0 0 0.00278032 0 0 GRIN2B 2904 broad.mit.edu 37 12 13715747 13715747 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr12:13715747C>T ENST00000279593.3 - 13 4634 c.4425G>A c.(4423-4425)gaG>gaA p.E1475E NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 1475 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TAGAAAGTTTCTCATAAACAT 0.507000 15 127 0 0 0.000422831 0 0 AHNAK2 113146 broad.mit.edu 37 14 105408642 105408642 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr14:105408642C>T ENST00000333244.5 - 7 13265 c.13146G>A c.(13144-13146)ccG>ccA p.P4382P AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 4382 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TCTGCAGCTTCGGCAGGTGCC 0.602000 25 102 0 0 0.000586117 0 0 LAMA2 3908 broad.mit.edu 37 6 129635944 129635944 + Splice_Site SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr6:129635944G>A ENST00000421865.2 + 24 3604 c.e24+1 NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) CCGGACGTGGGTGAGTAGGGA 0.483000 19 77 0 0 0.00047179 0 0 DRAM2 128338 broad.mit.edu 37 1 111667496 111667496 + Silent SNP A A G TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:111667496A>G ENST00000286692.4 - 5 824 c.207T>C c.(205-207)gcT>gcC p.A69A DRAM2_ENST00000539140.1_Silent_p.A69A|DRAM2_ENST00000484310.1_5'UTR Q6UX65 DRAM2_HUMAN DNA-damage regulated autophagy modulator 2 69 apoptosis|induction of apoptosis Golgi apparatus|integral to membrane|lysosomal membrane endometrium(1)|large_intestine(5)|lung(3) 9 CATAAATGGTAGCAATGCCTG 0.358000 4 16 0 0 0.000602214 0 0 ADAMTS8 11095 broad.mit.edu 37 11 130278772 130278772 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr11:130278772C>T ENST00000257359.6 - 7 2520 c.1814G>A c.(1813-1815)gGg>gAg p.G605E NM_007037.4 NP_008968.4 Q9UP79 ATS8_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 8 605 Cys-rich. negative regulation of cell proliferation|proteolysis proteinaceous extracellular matrix heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding p.G634E(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 10 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213) CAGGAGATTCCCGTCCATGTC 0.557000 15 92 0 0 0.000308642 0 0 ZBTB38 253461 broad.mit.edu 37 3 141164020 141164020 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr3:141164020G>A ENST00000514251.1 + 4 3069 c.2790G>A c.(2788-2790)caG>caA p.Q930Q ZBTB38_ENST00000321464.5_Silent_p.Q931Q|ZBTB38_ENST00000441582.2_Silent_p.Q930Q Q8NAP3 ZBT38_HUMAN zinc finger and BTB domain containing 38 930 positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 41 AATCCAGACAGTTGAAAAAAA 0.483000 5 42 0 0 0.000602214 0 0 NPAP1 23742 broad.mit.edu 37 15 24922815 24922815 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr15:24922815C>T ENST00000329468.2 + 1 2275 c.1801C>T c.(1801-1803)Cca>Tca p.P601S NM_018958.2 NP_061831.2 nuclear pore associated protein 1 GAGCTCTCTCCCAAATTCCCA 0.468000 15 73 0 0 0.00244969 0 0 SEMA3E 9723 broad.mit.edu 37 7 82997290 82997290 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr7:82997290G>A ENST00000307792.3 - 17 2407 c.1940C>T c.(1939-1941)tCa>tTa p.S647L SEMA3E_ENST00000427262.1_Missense_Mutation_p.S587L NM_012431.2 NP_036563.1 O15041 SEM3E_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E 647 Ig-like C2-type. 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) CCCAGCATCTGATTTGTGTAA 0.428000 8 53 0 0 0.000274275 0 0 SLC29A3 55315 broad.mit.edu 37 10 73121807 73121807 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr10:73121807C>T ENST00000373189.5 + 6 922 c.870C>T c.(868-870)ttC>ttT p.F290F SLC29A3_ENST00000469204.1_3'UTR NM_001174098.1|NM_018344.5 NP_001167569.1|NP_060814.4 Q9BZD2 S29A3_HUMAN solute carrier family 29 (equilibrative nucleoside transporter), member 3 290 nucleobase, nucleoside and nucleotide metabolic process integral to membrane|late endosome membrane|lysosomal membrane nucleoside transmembrane transporter activity endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1) 15 CCTCCAGATTCATTGATTCCC 0.577000 8 52 0 0 0.000157383 0 0 ASPHD1 253982 broad.mit.edu 37 16 29912571 29912571 + Nonsense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr16:29912571G>A ENST00000308748.5 + 1 531 c.279G>A c.(277-279)tgG>tgA p.W93* ASPHD1_ENST00000483405.1_Intron NM_181718.3 NP_859069.2 Q5U4P2 ASPH1_HUMAN aspartate beta-hydroxylase domain containing 1 93 peptidyl-amino acid modification integral to endoplasmic reticulum membrane oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity endometrium(4)|large_intestine(2)|lung(1)|prostate(1) 8 TGTTCCTCTGGTACTGCTACC 0.682000 14 73 0 0 0.00244969 0 0 OR2G2 81470 broad.mit.edu 37 1 247752184 247752184 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:247752184C>T ENST00000320065.1 + 1 523 c.523C>T c.(523-525)Cgc>Tgc p.R175C RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA NM_001001915.1 NP_001001915.1 Q8NGZ5 OR2G2_HUMAN olfactory receptor, family 2, subfamily G, member 2 175 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R175C(1) endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) CTGTGGGCATCGCCAAGTGGA 0.557000 15 81 0 0 0.000308642 0 0 HAL 3034 broad.mit.edu 37 12 96371823 96371823 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr12:96371823G>A ENST00000261208.3 - 18 1921 c.1553C>T c.(1552-1554)tCt>tTt p.S518F HAL_ENST00000541929.1_Missense_Mutation_p.S310F|HAL_ENST00000538703.1_Missense_Mutation_p.S518F NM_002108.3 NP_002099.1 P42357 HUTH_HUMAN histidine ammonia-lyase 518 biosynthetic process|histidine catabolic process cytosol histidine ammonia-lyase activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 34 L-Histidine(DB00117) GGAGTCAACAGACGAGGGATG 0.572000 6 48 0 0 0.00116845 0 0 PITPNM2 57605 broad.mit.edu 37 12 123477212 123477212 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr12:123477212G>A ENST00000280562.5 - 15 2443 c.2238C>T c.(2236-2238)ttC>ttT p.F746F PITPNM2_ENST00000320201.4_Silent_p.F746F|PITPNM2_ENST00000392428.1_Silent_p.F467F|PITPNM2_ENST00000542749.1_Silent_p.F746F Q9BZ72 PITM2_HUMAN phosphatidylinositol transfer protein, membrane-associated 2 746 DDHD. metabolic process|transport endomembrane system|integral to membrane|intracellular membrane-bounded organelle calcium ion binding|lipid binding NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 39 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123) GCCGCAGCTGGAAAACTGGGG 0.662000 8 58 0 0 0.000157383 0 0 BAGE2 85319 broad.mit.edu 37 21 11047514 11047514 + RNA SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr21:11047514C>T ENST00000470054.1 - 0 740 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GTACAGATTTCATAATTCGTT 0.348000 7 333 0 0 0.00198382 0 0 SLC8A3 6547 broad.mit.edu 37 14 70633880 70633880 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr14:70633880C>T ENST00000381269.2 - 2 2013 c.1260G>A c.(1258-1260)agG>agA p.R420R SLC8A3_ENST00000356921.2_Silent_p.R420R|SLC8A3_ENST00000357887.3_Silent_p.R420R|SLC8A3_ENST00000528359.1_Silent_p.R420R|SLC8A3_ENST00000534137.1_Silent_p.R420R NM_058240.2|NM_183002.1 NP_489479.1|NP_892114.1 P57103 NAC3_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 3 420 Calx-beta 1. cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6) 54 BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555) CTCCCCCTTTCCTCACCACTG 0.512000 9 81 0 0 0.000673444 0 0 RGS7 6000 broad.mit.edu 37 1 241262011 241262011 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:241262011G>A ENST00000366565.1 - 3 511 c.130C>T c.(130-132)Cgt>Tgt p.R44C RGS7_ENST00000366562.4_Missense_Mutation_p.R44C|RGS7_ENST00000366563.1_Missense_Mutation_p.R44C|RGS7_ENST00000366564.1_Missense_Mutation_p.R44C|RGS7_ENST00000407727.1_Missense_Mutation_p.R44C|RGS7_ENST00000348120.2_Missense_Mutation_p.R44C|RGS7_ENST00000401882.1_Missense_Mutation_p.R44C|RGS7_ENST00000331110.7_Missense_Mutation_p.R18C|RGS7_ENST00000446183.2_5'UTR NM_002924.4 NP_002915.3 P49802 RGS7_HUMAN regulator of G-protein signaling 7 44 DEP. 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 p.R44S(2) 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) TTGACCGTACGAATAGGAATT 0.358000 7 39 0 0 0.000274275 0 0 TSSK1B 83942 broad.mit.edu 37 5 112770048 112770048 + Silent SNP C C T rs139038807 TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr5:112770048C>T ENST00000390666.3 - 1 680 c.489G>A c.(487-489)cgG>cgA p.R163R CTD-2201G3.1_ENST00000383058.4_RNA|MCC_ENST00000408903.3_Intron|CTD-2201G3.1_ENST00000416046.2_RNA NM_032028.3 NP_114417.1 Q9BXA7 TSSK1_HUMAN testis-specific serine kinase 1B 163 Protein kinase. cell differentiation|multicellular organismal development|spermatogenesis ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.R163R(2) large_intestine(8)|ovary(2)|skin(2)|stomach(1) 13 all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156) Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449) CACTGTCATCCCGCAGGCAGC 0.572000 7 34 0 0 0.000157383 0 0 CYP46A1 10858 broad.mit.edu 37 14 100182517 100182517 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr14:100182517C>T ENST00000554176.1 + 4 1095 c.429C>T c.(427-429)ttC>ttT p.F143F CYP46A1_ENST00000261835.3_Silent_p.F296F|CYP46A1_ENST00000423126.2_Silent_p.F199F Q9Y6A2 CP46A_HUMAN cytochrome P450, family 46, subfamily A, polypeptide 1 296 bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1) 25 Melanoma(154;0.0866)|all_epithelial(191;0.179) TGGACAACTTCGTCACCTTCT 0.542000 9 66 0 0 0.000978159 0 0 POTEF 728378 broad.mit.edu 37 2 130832798 130832798 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr2:130832798C>T ENST00000357462.5 - 15 2340 c.2247G>A c.(2245-2247)caG>caA p.Q749Q POTEF_ENST00000409914.2_Silent_p.Q749Q A5A3E0 POTEF_HUMAN POTE ankyrin domain family, member F 749 Actin-like. cell cortex ATP binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 53 AGGACTCTTTCTGATGCATGC 0.617000 17 80 0 0 0.000422831 0 0 TAF2 6873 broad.mit.edu 37 8 120801086 120801086 + Missense_Mutation SNP C C A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr8:120801086C>A ENST00000378164.2 - 13 1925 c.1627G>T c.(1627-1629)Gtc>Ttc p.V543F NM_003184.3 NP_003175.1 Q6P1X5 TAF2_HUMAN TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa 543 G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor TFIID complex|transcription factor TFTC complex metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 49 Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) AGTTCCAAGACATTTCGTTTT 0.348000 10 68 6.40141e-05 0.0002501 0.000978159 1 0 KIAA2022 340533 broad.mit.edu 37 X 73960361 73960361 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chrX:73960361G>A ENST00000373468.1 - 3 4682 c.4031C>T c.(4030-4032)cCc>cTc p.P1344L KIAA2022_ENST00000055682.5_Missense_Mutation_p.P1344L Q5QGS0 K2022_HUMAN KIAA2022 1344 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 GTGCTCCATGGGTTCCCAAAG 0.478000 5 17 0 0 0.000602214 0 0 MMP3 4314 broad.mit.edu 37 11 102710958 102710958 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr11:102710958G>A ENST00000299855.5 - 6 1072 c.816C>T c.(814-816)acC>acT p.T272T NM_002422.3 NP_002413.1 P08254 MMP3_HUMAN matrix metallopeptidase 3 (stromelysin 1, progelatinase) 272 collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 22 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.0142) Marimastat(DB00786)|Simvastatin(DB00641) GTACCAGGGGGGTCTCAGGGG 0.522000 5 35 0 0 0.000602214 0 0 ALKBH1 8846 broad.mit.edu 37 14 78174243 78174243 + Silent SNP G G T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr14:78174243G>T ENST00000216489.3 - 1 120 c.105C>A c.(103-105)ccC>ccA p.P35P NM_006020.2 NP_006011.2 Q13686 ALKB1_HUMAN alkB, alkylation repair homolog 1 (E. coli) 35 DNA dealkylation involved in DNA repair|DNA demethylation|oxidative demethylation|RNA repair mitochondrion DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1) 9 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0291) CTGCGGTCCCGGGCCGGCTCT 0.667000 9 60 1.12685e-05 4.41741e-05 0.000274275 1 0 FER1L6 654463 broad.mit.edu 37 8 125029953 125029953 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr8:125029953G>A ENST00000522917.1 + 16 2214 c.2008G>A c.(2008-2010)Gag>Aag p.E670K FER1L6-AS1_ENST00000518567.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.E670K NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 670 integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) CTGCTGGCAGGAGCTGGTATG 0.388000 14 37 0 0 0.00185496 0 0 SUPT6H 6830 broad.mit.edu 37 17 27022499 27022499 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr17:27022499G>A ENST00000314616.6 + 29 4187 c.3904G>A c.(3904-3906)Gac>Aac p.D1302N SUPT6H_ENST00000347486.4_Missense_Mutation_p.D1302N NM_003170.3 NP_003161.2 Q7KZ85 SPT6H_HUMAN suppressor of Ty 6 homolog (S. cerevisiae) 1302 chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) CACCTACTATGACTTTGATGC 0.542000 11 35 0 0 0.000673444 0 0 RNFT2 84900 broad.mit.edu 37 12 117271707 117271707 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr12:117271707C>T ENST00000257575.4 + 8 1226 c.993C>T c.(991-993)ttC>ttT p.F331F RNFT2_ENST00000319176.7_Intron|RNFT2_ENST00000392549.2_Silent_p.F331F|RNFT2_ENST00000407967.3_Silent_p.F331F Q96EX2 RNFT2_HUMAN ring finger protein, transmembrane 2 331 integral to membrane zinc ion binding endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1) 6 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.034) ACAGCTACTTCCTGGGCGGGG 0.592000 6 33 0 0 0.000157383 0 0 SAMHD1 25939 broad.mit.edu 37 20 35526320 35526320 + Nonsense_Mutation SNP G G A rs149846637 TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr20:35526320G>A ENST00000262878.4 - 15 1850 c.1651C>T c.(1651-1653)Cga>Tga p.R551* NM_015474.3 NP_056289.2 Q9Y3Z3 SAMH1_HUMAN SAM domain and HD domain 1 551 defense response to virus|innate immune response|regulation of innate immune response nucleus metal ion binding|phosphoric diester hydrolase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1) 20 Myeloproliferative disorder(115;0.00878) CAATATACTCGAATCAGCTGC 0.408000 9 110 0 0 0.000274275 0 0 HAS3 3038 broad.mit.edu 37 16 69143412 69143412 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr16:69143412G>A ENST00000306560.1 + 2 270 c.114G>A c.(112-114)acG>acA p.T38T HAS3_ENST00000219322.3_Silent_p.T38T|HAS3_ENST00000569188.1_Silent_p.T38T NM_005329.2 NP_005320.2 O00219 HAS3_HUMAN hyaluronan synthase 3 38 carbohydrate metabolic process integral to plasma membrane hyaluronan synthase activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2) 16 Ovarian(137;0.101) OV - Ovarian serous cystadenocarcinoma(108;0.0694) TCATCCACACGGAAAAGCACT 0.622000 7 44 0 0 0.00198382 0 0 IL12A-AS1 101928376 broad.mit.edu 37 3 159819891 159819891 + RNA SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr3:159819891G>A ENST00000497452.1 - 0 517 TATCAGCAAGGATGATTCTGA 0.408000 7 46 0 0 0.00198382 0 0 OR10Q1 219960 broad.mit.edu 37 11 57995973 57995973 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr11:57995973G>A ENST00000316770.2 - 1 417 c.375C>T c.(373-375)gaC>gaT p.D125D NM_001004471.2 NP_001004471.1 Q8NGQ4 O10Q1_HUMAN olfactory receptor, family 10, subfamily Q, member 1 125 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2) 35 Breast(21;0.0589) CCACATAGCGGTCATAGGCCA 0.607000 5 37 0 0 0.00198382 0 0 ENO3 2027 broad.mit.edu 37 17 4860303 4860303 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr17:4860303C>T ENST00000323997.6 + 12 1398 c.1266C>T c.(1264-1266)atC>atT p.I422I ENO3_ENST00000518175.1_Silent_p.I422I|ENO3_ENST00000519584.1_Silent_p.I379I NM_001976.4|NM_053013.3 NP_001967.3|NP_443739.3 P13929 ENOB_HUMAN enolase 3 (beta, muscle) 422 gluconeogenesis|glycolysis phosphopyruvate hydratase complex magnesium ion binding|phosphopyruvate hydratase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1) 15 ACAAGGCAATCTTTGCTGGAC 0.572000 OREG0024110 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 135 0 0 0.00121646 0 0 EIF4B 1975 broad.mit.edu 37 12 53413733 53413733 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr12:53413733G>A ENST00000262056.9 + 4 726 c.400G>A c.(400-402)Gag>Aag p.E134K EIF4B_ENST00000416762.3_Intron|RP11-983P16.4_ENST00000552905.1_RNA|EIF4B_ENST00000551527.1_3'UTR|EIF4B_ENST00000420463.3_Missense_Mutation_p.E134K NM_001417.4 NP_001408.2 P23588 IF4B_HUMAN eukaryotic translation initiation factor 4B 134 RRM. insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex nucleotide binding|translation initiation factor activity p.E134Q(1) breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1) 22 CAGCAATCCAGAGAGGTTGAA 0.423000 6 33 0 0 0.00198382 0 0 ITPKC 80271 broad.mit.edu 37 19 41224032 41224032 + Missense_Mutation SNP T T A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr19:41224032T>A ENST00000263370.2 + 1 1025 c.992T>A c.(991-993)aTc>aAc p.I331N NM_025194.2 NP_079470.1 Q96DU7 IP3KC_HUMAN inositol-trisphosphate 3-kinase C 331 Nuclear export signal (By similarity). cytoplasm|nucleus ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1) 14 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) CCCCGCCTCATCATTACCCCT 0.632000 9 80 0 0 0.000673444 0 0 SCLY 51540 broad.mit.edu 37 2 238976788 238976788 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr2:238976788C>T ENST00000254663.6 + 3 451 c.309C>T c.(307-309)ttC>ttT p.F103F SCLY_ENST00000409736.2_Silent_p.F95F|SCLY_ENST00000422984.2_Intron|SCLY_ENST00000429612.2_Silent_p.F95F|SCLY_ENST00000373332.3_5'UTR|SCLY_ENST00000555827.1_Silent_p.F95F|UBE2F-SCLY_ENST00000449191.1_3'UTR|SCLY_ENST00000480859.1_3'UTR NM_016510.5 NP_057594.4 Q96I15 SCLY_HUMAN selenocysteine lyase 95 cellular amino acid metabolic process cytosol pyridoxal phosphate binding|selenocysteine lyase activity|transferase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1) 22 Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244) Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285) ATATAATCTTCACTTCCGGGG 0.413000 10 47 0 0 0.000978159 0 0 XIRP1 165904 broad.mit.edu 37 3 39230536 39230536 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr3:39230536G>A ENST00000340369.3 - 2 629 c.401C>T c.(400-402)tCc>tTc p.S134F XIRP1_ENST00000396251.1_Missense_Mutation_p.S134F|XIRP1_ENST00000421646.1_Intron NM_194293.2 NP_919269.2 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 134 actin binding breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6) 71 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) GTTGGCAAAGGAGCCTTCCTC 0.612000 16 59 0 0 0.000566183 0 0 KRT15 3866 broad.mit.edu 37 17 39673104 39673104 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr17:39673104C>T ENST00000254043.3 - 3 4279 c.694G>A c.(694-696)Ggc>Agc p.G232S KRT15_ENST00000393974.3_Missense_Mutation_p.G67S|KRT15_ENST00000393981.3_Missense_Mutation_p.G67S|KRT15_ENST00000393976.2_Missense_Mutation_p.G232S NM_002275.3 NP_002266.2 P19012 K1C15_HUMAN keratin 15 232 Coil 1B.|Rod. epidermis development intermediate filament protein binding|structural constituent of cytoskeleton NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 Breast(137;0.000286) TCATTCAGGCCCTCGATCTGC 0.622000 9 62 0 0 0.000978159 0 0 PITPNM1 9600 broad.mit.edu 37 11 67264878 67264878 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr11:67264878G>A ENST00000356404.3 - 14 2195 c.1970C>T c.(1969-1971)tCc>tTc p.S657F PITPNM1_ENST00000436757.2_Missense_Mutation_p.S657F|PITPNM1_ENST00000534749.1_Missense_Mutation_p.S657F NM_001130848.1|NM_004910.2 NP_001124320.1|NP_004901.2 O00562 PITM1_HUMAN phosphatidylinositol transfer protein, membrane-associated 1 657 brain development|lipid metabolic process|phototransduction|protein transport cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody metal ion binding|phosphatidylinositol transporter activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3) 18 GGGCTCCCAGGAGGAGGTGGT 0.682000 8 56 0 0 0.000157383 0 0 C8B 732 broad.mit.edu 37 1 57411609 57411609 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:57411609G>A ENST00000543257.1 - 8 1400 c.834C>T c.(832-834)taC>taT p.Y278Y C8B_ENST00000371237.4_Silent_p.Y330Y|C8B_ENST00000535057.1_Silent_p.Y268Y NM_001278543.1 NP_001265472.1 P07358 CO8B_HUMAN complement component 8, beta polypeptide 330 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis membrane attack complex p.Y330Y(1) breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 52 TGTATTCCCCGTAGCTGTACT 0.493000 6 55 0 0 0.00116845 0 0 PER3 8863 broad.mit.edu 37 1 7887212 7887212 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:7887212C>T ENST00000377532.3 + 17 2447 c.2223C>T c.(2221-2223)ggC>ggT p.G741G RP3-467L1.4_ENST00000451646.1_RNA|PER3_ENST00000361923.2_Silent_p.G733G P56645 PER3_HUMAN period circadian clock 3 733 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus signal transducer activity breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 39 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649) GGTCGGCCGGCTGCAGGAAAG 0.557000 5 34 0 0 0.00116845 0 0 SH2D5 400745 broad.mit.edu 37 1 21050929 21050929 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:21050929G>A ENST00000375031.1 - 5 962 c.338C>T c.(337-339)tCc>tTc p.S113F SH2D5_ENST00000460804.1_5'UTR|SH2D5_ENST00000444387.2_Missense_Mutation_p.S197F NM_001103160.1 NP_001096630.1 Q6ZV89 SH2D5_HUMAN SH2 domain containing 5 113 lung(4)|prostate(1)|upper_aerodigestive_tract(1) 6 Colorectal(325;3.46e-05)|all_lung(284;5.32e-05)|Lung NSC(340;5.51e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.17e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|GBM - Glioblastoma multiforme(114;0.000465)|Kidney(64;0.000476)|STAD - Stomach adenocarcinoma(196;0.00303)|KIRC - Kidney renal clear cell carcinoma(64;0.00634)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) CCGCCGAAAGGAGACCAGGGC 0.662000 11 34 0 0 0.000673444 0 0 RNF183 138065 broad.mit.edu 37 9 116059999 116059999 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr9:116059999G>A ENST00000478815.1 - 1 2046 c.466C>T c.(466-468)Cgc>Tgc p.R156C RNF183_ENST00000416588.2_Missense_Mutation_p.R156C|RNF183_ENST00000297894.5_Missense_Mutation_p.R156C|RNF183_ENST00000441031.3_Missense_Mutation_p.R156C Q96D59 RN183_HUMAN ring finger protein 183 156 integral to membrane zinc ion binding lung(1)|prostate(1)|skin(1) 3 TGAGGGTTGCGGAAACACTCC 0.587000 8 62 0 0 0.000274275 0 0 CASR 846 broad.mit.edu 37 3 121981094 121981094 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr3:121981094C>T ENST00000498619.1 + 4 1650 c.1212C>T c.(1210-1212)gtC>gtT p.V404V CASR_ENST00000296154.5_Silent_p.V404V|CASR_ENST00000490131.1_Silent_p.V404V NM_001178065.1 NP_001171536.1 P41180 CASR_HUMAN calcium-sensing receptor 404 anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) TCAGCAGTGTCGAGACCCCTT 0.483000 9 69 0 0 0.000442599 0 0 RTN1 6252 broad.mit.edu 37 14 60194250 60194250 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr14:60194250G>A ENST00000267484.5 - 3 1487 c.1152C>T c.(1150-1152)ccC>ccT p.P384P NM_021136.2 NP_066959.1 Q16799 RTN1_HUMAN reticulon 1 384 neuron differentiation integral to endoplasmic reticulum membrane signal transducer activity central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(108;0.0968) CCTTGACCTCGGGCCTGTCGG 0.652000 4 13 0 0 0.000602214 0 0 KRT6C 286887 broad.mit.edu 37 12 52862870 52862870 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr12:52862870G>A ENST00000252250.6 - 9 1718 c.1671C>T c.(1669-1671)tcC>tcT p.S557S NM_173086.4 NP_775109.2 P48668 K2C6C_HUMAN keratin 6C 557 Tail. cytoskeleton organization keratin filament structural molecule activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2) 23 BRCA - Breast invasive adenocarcinoma(357;0.0828) TCTTCCTGCTGGAGGAGGAGG 0.602000 11 66 0 0 0.00136819 0 0 ACSL1 2180 broad.mit.edu 37 4 185697691 185697691 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr4:185697691C>T ENST00000515030.1 - 7 1028 c.703G>A c.(703-705)Gtg>Atg p.V235M ACSL1_ENST00000507295.1_Missense_Mutation_p.V201M|ACSL1_ENST00000504342.1_Missense_Mutation_p.V235M|ACSL1_ENST00000454703.2_Missense_Mutation_p.V64M|ACSL1_ENST00000504900.1_Missense_Mutation_p.V235M|ACSL1_ENST00000281455.2_Missense_Mutation_p.V235M|ACSL1_ENST00000437665.3_Missense_Mutation_p.V64M|ACSL1_ENST00000513317.1_Missense_Mutation_p.V235M P33121 ACSL1_HUMAN acyl-CoA synthetase long-chain family member 1 235 digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane ATP binding|long-chain fatty acid-CoA ligase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2) 38 all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146) all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419) Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) CCTCGTTCCACCAGTTCACTG 0.522000 14 100 0 0 0.000308642 0 0 CD48 962 broad.mit.edu 37 1 160648919 160648919 + Silent SNP G G T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:160648919G>T ENST00000368046.3 - 4 742 c.655C>A c.(655-657)Cgg>Agg p.R219R RP11-404F10.2_ENST00000443928.2_RNA|RP11-404F10.2_ENST00000588034.1_RNA NM_001778.3 NP_001769.2 P09326 CD48_HUMAN CD48 molecule 219 blood coagulation|defense response|leukocyte migration integral to plasma membrane|membrane raft protein binding breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1) 10 all_cancers(52;2.18e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) CCAAAGGACCGGGCTGAAAGA 0.468000 8 67 1.06961e-07 4.21674e-07 0.000157383 1 0 SRCAP 10847 broad.mit.edu 37 16 30724011 30724011 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr16:30724011C>T ENST00000262518.4 + 14 2390 c.2005C>T c.(2005-2007)Ccc>Tcc p.P669S SRCAP_ENST00000395059.2_Missense_Mutation_p.P669S|SRCAP_ENST00000344771.4_Missense_Mutation_p.P669S NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 669 Helicase ATP-binding. 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) TAACTGGGGTCCCCATTTAAT 0.458000 14 80 0 0 0.000422831 0 0 SLC10A2 6555 broad.mit.edu 37 13 103698539 103698539 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr13:103698539C>T ENST00000245312.3 - 6 1587 c.991G>A c.(991-993)Gag>Aag p.E331K NM_000452.2 NP_000443.1 Q12908 NTCP2_HUMAN solute carrier family 10 (sodium/bile acid cotransporter), member 2 331 bile acid metabolic process|organic anion transport integral to plasma membrane bile acid:sodium symporter activity breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211) GACTCTGGCTCCGTTCCATTT 0.373000 5 30 0 0 0.00116845 0 0 C19orf45 374877 broad.mit.edu 37 19 7573206 7573206 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr19:7573206C>T ENST00000361664.2 + 9 1549 c.1408C>T c.(1408-1410)Cct>Tct p.P470S CTD-2207O23.12_ENST00000599312.1_Intron NM_198534.2 NP_940936.2 Q8NA69 CS045_HUMAN chromosome 19 open reading frame 45 470 endometrium(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|stomach(1) 8 ACTGAAAAATCCTCAGGAGGG 0.607000 5 34 0 0 0.00116845 0 0 CEP120 153241 broad.mit.edu 37 5 122734918 122734918 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr5:122734918C>T ENST00000306467.5 - 5 828 c.524G>A c.(523-525)gGa>gAa p.G175E CEP120_ENST00000395431.2_Missense_Mutation_p.G175E|CEP120_ENST00000306481.6_Missense_Mutation_p.G149E|CEP120_ENST00000328236.5_Missense_Mutation_p.G175E Q8N960 CE120_HUMAN centrosomal protein 120kDa 175 centrosome breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 29 ATGGTAGCCTCCCTCTTCATT 0.453000 9 65 0 0 0.000274275 0 0 FAM20C 56975 broad.mit.edu 37 7 195668 195668 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr7:195668C>T ENST00000313766.5 + 2 951 c.720C>T c.(718-720)tcC>tcT p.S240S FAM20C_ENST00000471328.1_3'UTR NM_020223.3 NP_064608.2 Q8IXL6 DMP4_HUMAN family with sequence similarity 20, member C 240 extracellular region endometrium(1)|lung(2)|urinary_tract(1) 4 Ovarian(82;0.0112) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.57e-17)|Epithelial(4;1.26e-16)|all cancers(6;4.79e-14) AGCTGTACTCCAGACACAACC 0.612000 8 65 0 0 0.000157383 0 0 TMPRSS15 5651 broad.mit.edu 37 21 19715909 19715909 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr21:19715909C>T ENST00000284885.3 - 12 1375 c.1342G>A c.(1342-1344)Gag>Aag p.E448K NM_002772.2 NP_002763.2 P98073 ENTK_HUMAN transmembrane protease, serine 15 448 MAM. proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 85 ACTGTCTTCTCCATATTTTGG 0.308000 12 60 0 0 0.00136819 0 0 DRD5 1816 broad.mit.edu 37 4 9784938 9784938 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr4:9784938G>A ENST00000304374.2 + 1 1681 c.1285G>A c.(1285-1287)Gag>Aag p.E429K NM_000798.4 NP_000789.1 P21918 DRD5_HUMAN dopamine receptor D5 429 activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic integral to plasma membrane NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1) 57 Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624) GGACAACGACGAGGAGGAGGG 0.577000 6 60 0 0 0.00116845 0 0 SRRM2 23524 broad.mit.edu 37 16 2815608 2815608 + Silent SNP A A C rs142684862 byFrequency TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr16:2815608A>C ENST00000301740.8 + 11 5628 c.5079A>C c.(5077-5079)tcA>tcC p.S1693S NM_016333.3 NP_057417.3 Q9UQ35 SRRM2_HUMAN serine/arginine repetitive matrix 2 1693 Arg-rich.|Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7) 105 GCTCTCGATCATCTCCGGAGC 0.572000 7 28 0 0 0.00198382 0 0 WNT5B 81029 broad.mit.edu 37 12 1748967 1748967 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr12:1748967C>T ENST00000397196.2 + 4 678 c.446C>T c.(445-447)cCc>cTc p.P149L WNT5B_ENST00000310594.3_Missense_Mutation_p.P149L|WNT5B_ENST00000542408.1_Intron|WNT5B_ENST00000537031.1_Missense_Mutation_p.P149L NM_032642.2 NP_116031.1 Q9H1J7 WNT5B_HUMAN wingless-type MMTV integration site family, member 5B 149 angiogenesis|anterior/posterior pattern formation|cell migration involved in gastrulation|cellular response to retinoic acid|chondrocyte differentiation|convergent extension involved in axis elongation|convergent extension involved in gastrulation|dorsal/ventral axis specification|endocrine pancreas development|fat cell differentiation|lens fiber cell development|negative regulation of canonical Wnt receptor signaling pathway|neuron differentiation|positive regulation of cell migration|positive regulation of fat cell differentiation|respiratory system development|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix frizzled-2 binding skin(1) 1 Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.00109) ACGGCGCGGCCCAAGGACCTG 0.721000 8 40 0 0 0.000442599 0 0 UBE2C 11065 broad.mit.edu 37 20 44444545 44444545 + Silent SNP C C T rs61760191 TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr20:44444545C>T ENST00000405520.1 + 4 1194 c.357C>T c.(355-357)aaC>aaT p.N119N UBE2C_ENST00000356455.4_Silent_p.N158N|UBE2C_ENST00000243893.6_3'UTR|UBE2C_ENST00000352551.5_Silent_p.N129N|UBE2C_ENST00000496085.1_3'UTR|UBE2C_ENST00000335046.3_Silent_p.N140N|UBE2C_ENST00000372568.4_Silent_p.N119N NM_181802.1 NP_861518.1 O00762 UBE2C_HUMAN ubiquitin-conjugating enzyme E2C 158 activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|exit from mitosis|free ubiquitin chain polymerization|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|positive regulation of exit from mitosis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|protein K48-linked ubiquitination|spindle organization anaphase-promoting complex|cytosol|nucleoplasm ATP binding|protein binding|ubiquitin-protein ligase activity large_intestine(2)|lung(2)|skin(1) 5 Myeloproliferative disorder(115;0.0122) TCTGGAAAAACCCCACAGGTG 0.552000 7 134 0 0 0.000274275 0 0 RYR2 6262 broad.mit.edu 37 1 237780661 237780661 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:237780661G>A ENST00000366574.2 + 38 6108 c.5791G>A c.(5791-5793)Gat>Aat p.D1931N RYR2_ENST00000360064.6_Missense_Mutation_p.D1929N|RYR2_ENST00000542537.1_Missense_Mutation_p.D1915N NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1931 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CTTTTCAGATGATTTTGTGGC 0.468000 8 38 0 0 0.000157383 0 0 ASH1L 55870 broad.mit.edu 37 1 155324386 155324386 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:155324386C>T ENST00000368346.3 - 16 7745 c.7106G>A c.(7105-7107)cGa>cAa p.R2369Q ASH1L_ENST00000392403.3_Missense_Mutation_p.R2364Q Q9NR48 ASH1L_HUMAN ash1 (absent, small, or homeotic)-like (Drosophila) 2369 cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4) 124 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) CTCCCAGTTTCGGACCAAGAA 0.368000 21 121 0 0 0.00152264 0 0 MAPT 4137 broad.mit.edu 37 17 44060828 44060828 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr17:44060828G>A ENST00000344290.5 + 6 980 c.658G>A c.(658-660)Gaa>Aaa p.E220K MAPT_ENST00000420682.2_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000571987.1_Missense_Mutation_p.E220K|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000262410.5_Missense_Mutation_p.E220K|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000415613.2_Missense_Mutation_p.E220K NM_001123066.3 NP_001116538.2 P10636 TAU_HUMAN microtubule-associated protein tau 220 cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 38 Melanoma(429;0.216) GGAGGTGGATGAAGACCGCGA 0.677000 4 11 0 0 0.00024832 0 0 MAGEC1 9947 broad.mit.edu 37 X 140994856 140994856 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chrX:140994856G>A ENST00000285879.4 + 4 1952 c.1666G>A c.(1666-1668)Gag>Aag p.E556K MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 556 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) TCCTCAGGGGGAGGACTCCCT 0.572000 HNSCC(15;0.026) 42 138 0 0 0.00195071 0 0 VWA3B 200403 broad.mit.edu 37 2 98846622 98846622 + Missense_Mutation SNP T T G TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr2:98846622T>G ENST00000477737.1 + 16 2464 c.2260T>G c.(2260-2262)Tgg>Ggg p.W754G NM_144992.4 NP_659429.4 Q502W6 VWA3B_HUMAN von Willebrand factor A domain containing 3B 754 NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 GAAGGGACCATGGGGCCTTTC 0.418000 9 63 0 0 0.000442599 0 0 NNMT 4837 broad.mit.edu 37 11 114182868 114182868 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr11:114182868C>T ENST00000535401.1 + 5 728 c.464C>T c.(463-465)cCc>cTc p.P155L RP11-64D24.2_ENST00000544925.1_RNA|NNMT_ENST00000299964.3_Missense_Mutation_p.P155L|NNMT_ENST00000542647.1_5'UTR|NNMT_ENST00000541754.1_5'UTR|NNMT_ENST00000545255.1_5'UTR P40261 NNMT_HUMAN nicotinamide N-methyltransferase 155 xenobiotic metabolic process cytosol nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906) BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128) Niacin(DB00627) GTCCCCTTACCCCCGGCTGAC 0.627000 15 82 0 0 0.000422831 0 0 PCDHB15 56121 broad.mit.edu 37 5 140626250 140626250 + Silent SNP T T C TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr5:140626250T>C ENST00000231173.3 + 1 1104 c.1104T>C c.(1102-1104)ttT>ttC p.F368F NM_018935.2 NP_061758.1 Q9Y5E8 PCDBF_HUMAN 368 Cadherin 4. 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) TGGCCCTGTTTAGGATTAGAG 0.408000 15 65 0 0 0.000308642 0 0 TRIML2 205860 broad.mit.edu 37 4 189012615 189012615 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr4:189012615G>A ENST00000512729.1 - 7 1450 c.1076C>T c.(1075-1077)tCc>tTc p.S359F TRIML2_ENST00000326754.3_Missense_Mutation_p.S384F NM_173553.1 NP_775824.1 Q8N7C3 TRIMM_HUMAN tripartite motif family-like 2 359 B30.2/SPRY. ligase activity central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1) 39 all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513) OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163) GATACAGAGGGAAAACACAGG 0.473000 18 103 0 0 0.000566183 0 0 SEC24A 10802 broad.mit.edu 37 5 134059307 134059307 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr5:134059307C>T ENST00000398844.2 + 22 3402 c.3114C>T c.(3112-3114)ttC>ttT p.F1038F NM_021982.2 NP_068817.1 O95486 SC24A_HUMAN SEC24 family member A 1038 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm zinc ion binding NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TAATAGCTTTCATCTCTTGGC 0.338000 16 97 0 0 0.00121646 0 0 KIAA1328 57536 broad.mit.edu 37 18 34802118 34802118 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr18:34802118G>A ENST00000591619.1 + 10 2436 c.1650G>A c.(1648-1650)aaG>aaA p.K550K KIAA1328_ENST00000280020.5_Silent_p.K554K|KIAA1328_ENST00000543923.1_Intron|KIAA1328_ENST00000586135.1_3'UTR Q86T90 K1328_HUMAN KIAA1328 554 central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1) 14 COAD - Colon adenocarcinoma(74;0.195) CAACCCGGAAGAAGATGGGGA 0.453000 4 18 0 0 0.00024832 0 0 UBE3B 89910 broad.mit.edu 37 12 109967761 109967761 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr12:109967761C>T ENST00000342494.3 + 25 3289 c.2694C>T c.(2692-2694)gcC>gcT p.A898A UBE3B_ENST00000434735.2_Silent_p.A898A|UBE3B_ENST00000535089.1_5'UTR NM_130466.3 NP_569733.2 Q7Z3V4 UBE3B_HUMAN ubiquitin protein ligase E3B 898 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2) 45 AAACAGCTGCCCTCATTAGCG 0.438000 12 78 0 0 0.00136819 0 0 MUC16 94025 broad.mit.edu 37 19 9047175 9047175 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr19:9047175C>T ENST00000397910.4 - 5 34659 c.34456G>A c.(34456-34458)Gag>Aag p.E11486K NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 11488 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GCTGTTGTCTCTGGTTCATAT 0.507000 12 95 0 0 0.00244969 0 0 GRIN2B 2904 broad.mit.edu 37 12 13717007 13717007 + Missense_Mutation SNP C C G TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr12:13717007C>G ENST00000279593.3 - 13 3374 c.3165G>C c.(3163-3165)ttG>ttC p.L1055F NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B 1055 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) CGGAGCGGATCAAGTCGTCGT 0.577000 6 43 0 0 0.000274275 0 0 LRTM1 57408 broad.mit.edu 37 3 54952855 54952855 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr3:54952855C>T ENST00000273286.5 - 3 831 c.669G>A c.(667-669)agG>agA p.R223R CACNA2D3_ENST00000288197.5_Intron|CACNA2D3_ENST00000490478.1_Intron|LRTM1_ENST00000493075.1_Silent_p.R147R|CACNA2D3_ENST00000474759.1_Intron|CACNA2D3_ENST00000415676.2_Intron NM_020678.2 NP_065729.1 Q9HBL6 LRTM1_HUMAN leucine-rich repeats and transmembrane domains 1 223 LRRCT. integral to membrane breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4) 21 KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502) CATGAGGGATCCTAAGGAGGT 0.547000 9 20 0 0 0.000673444 0 0 SCN2A 6326 broad.mit.edu 37 2 166165685 166165685 + Missense_Mutation SNP G G A rs2228981 TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr2:166165685G>A ENST00000357398.3 + 6 906 c.616G>A c.(616-618)Gaa>Aaa p.E206K SCN2A_ENST00000375437.2_Intron|SCN2A_ENST00000375427.2_Missense_Mutation_p.E206K|SCN2A_ENST00000283256.6_Intron Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit 206 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) GTATGTAACAGAATTTGTAAA 0.338000 4 22 0 0 0.00116845 0 0 VTCN1 79679 broad.mit.edu 37 1 117690362 117690362 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:117690362G>A ENST00000369458.3 - 5 845 c.767C>T c.(766-768)tCa>tTa p.S256L VTCN1_ENST00000539893.1_Missense_Mutation_p.S161L|VTCN1_ENST00000359008.4_Missense_Mutation_p.S259L|VTCN1_ENST00000328189.3_Missense_Mutation_p.S140L NM_024626.3 NP_078902.2 Q7Z7D3 VTCN1_HUMAN V-set domain containing T cell activation inhibitor 1 256 integral to membrane|plasma membrane large_intestine(7)|lung(4)|upper_aerodigestive_tract(1) 12 Lung SC(450;0.225) all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05) Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23) AGAAGCCTTTGAGTTTAGCAG 0.468000 13 61 0 0 0.000308642 0 0 GPR98 84059 broad.mit.edu 37 5 90059138 90059138 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr5:90059138C>T ENST00000405460.2 + 59 12233 c.12137C>T c.(12136-12138)tCc>tTc p.S4046F NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 4046 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) ATTGATGAATCCCTTTCATCC 0.398000 5 15 0 0 0.00116845 0 0 TECPR1 25851 broad.mit.edu 37 7 97854178 97854178 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr7:97854178G>A ENST00000447648.2 - 19 2924 c.2625C>T c.(2623-2625)ttC>ttT p.F875F TECPR1_ENST00000479975.1_5'UTR|TECPR1_ENST00000379795.3_Silent_p.F877F Q7Z6L1 TCPR1_HUMAN tectonin beta-propeller repeat containing 1 875 integral to membrane protein binding central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 TGAAATCCACGAACCAGTCGG 0.647000 3 3 0 0 6.4e-05 0 0 FGD5 152273 broad.mit.edu 37 3 14964556 14964556 + Missense_Mutation SNP G G C TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr3:14964556G>C ENST00000285046.5 + 16 3921 c.3811G>C c.(3811-3813)Gtg>Ctg p.V1271L FGD5-AS1_ENST00000430166.1_RNA|FGD5_ENST00000476851.1_3'UTR|FGD5_ENST00000543601.1_Missense_Mutation_p.V1030L NM_152536.3 NP_689749.3 Q6ZNL6 FGD5_HUMAN FYVE, RhoGEF and PH domain containing 5 1271 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1) 54 CCTGCAGATCGTGTGCCGGAA 0.607000 7 94 0 0 0.000157383 0 0 C1orf173 127254 broad.mit.edu 37 1 75038499 75038499 + Silent SNP C C T rs148451571 TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:75038499C>T ENST00000326665.5 - 14 3113 c.2895G>A c.(2893-2895)aaG>aaA p.K965K C1orf173_ENST00000433746.2_5'UTR NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 965 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 CGTCCTCTCTCTTTGATGCTG 0.522000 16 90 0 0 0.000422831 0 0 HEPHL1 341208 broad.mit.edu 37 11 93754685 93754685 + Missense_Mutation SNP A A G TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr11:93754685A>G ENST00000315765.9 + 1 159 c.151A>G c.(151-153)Aaa>Gaa p.K51E NM_001098672.1 NP_001092142.1 Q6MZM0 HPHL1_HUMAN hephaestin-like 1 51 Plastocyanin-like 1. copper ion transport integral to membrane copper ion binding|oxidoreductase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 61 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) TATTACTGGGAAAAGTTTCAC 0.448000 20 115 0 0 0.00229938 0 0 DLG5 9231 broad.mit.edu 37 10 79566601 79566601 + Nonsense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr10:79566601G>A ENST00000372391.2 - 26 4887 c.4882C>T c.(4882-4884)Cag>Tag p.Q1628* DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Nonsense_Mutation_p.Q1288* NM_004747.3 NP_004738.3 Q8TDM6 DLG5_HUMAN discs, large homolog 5 (Drosophila) 1628 SH3. cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis cell junction|cytoplasm beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146) Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446) AACGTGCCCTGGGGTAAGGTG 0.572000 14 73 0 0 0.000308642 0 0 PCDHGA10 56106 broad.mit.edu 37 5 140794564 140794564 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr5:140794564C>T ENST00000398610.2 + 1 1822 c.1822C>T c.(1822-1824)Ctg>Ttg p.L608L PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron NM_018913.2|NM_032090.1 NP_061736.1|NP_114479.1 breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAACGCCTGGCTGTCCTACCG 0.711000 19 73 0 0 0.00152264 0 0 TRIM6-TRIM34 445372 broad.mit.edu 37 11 5664747 5664747 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr11:5664747C>T ENST00000354852.5 + 14 2510 c.2337C>T c.(2335-2337)tcC>tcT p.S779S HBG2_ENST00000380259.2_Intron|TRIM6-TRIM34_ENST00000457787.2_Silent_p.S425S|TRIM34_ENST00000429814.2_Silent_p.S425S|TRIM34_ENST00000495668.1_3'UTR|TRIM34_ENST00000514226.1_Silent_p.S425S NM_001003819.3 NP_001003819.1 B2RNG4 B2RNG4_HUMAN 779 intracellular zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1) 33 Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212) Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145) TGACTCTCTCCATGGCTGTGC 0.458000 14 91 0 0 0.00244969 0 0 EQTN 54586 broad.mit.edu 37 9 27297013 27297013 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr9:27297013G>A ENST00000380032.3 - 1 124 c.41C>T c.(40-42)tCc>tTc p.S14F EQTN_ENST00000380031.1_Missense_Mutation_p.S14F|EQTN_ENST00000537675.1_Missense_Mutation_p.S14F NM_020641.2 NP_065692.2 equatorin, sperm acrosome associated ACTTTTTAAGGAAAAAACTCC 0.323000 4 34 0 0 0.000602214 0 0 TACR3 6870 broad.mit.edu 37 4 104510988 104510988 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr4:104510988C>T ENST00000304883.2 - 5 1389 c.1249G>A c.(1249-1251)Gat>Aat p.D417N RP11-297P16.3_ENST00000502936.1_RNA|RP11-297P16.3_ENST00000512401.1_RNA NM_001059.2 NP_001050.1 P29371 NK3R_HUMAN tachykinin receptor 3 417 integral to plasma membrane tachykinin receptor activity p.D417N(1) breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 51 Hepatocellular(203;0.217) UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08) GTGTCTGCATCGTTGGGGTCA 0.527000 9 56 0 0 0.000978159 0 0 HS3ST5 222537 broad.mit.edu 37 6 114378925 114378925 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr6:114378925C>T ENST00000312719.5 - 5 1725 c.537G>A c.(535-537)ttG>ttA p.L179L RP3-399L15.3_ENST00000519104.1_RNA|RP3-399L15.3_ENST00000519270.1_RNA|HS3ST5_ENST00000411826.1_Silent_p.L179L|RP3-399L15.3_ENST00000523087.1_RNA Q8IZT8 HS3S5_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 5 179 heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell Golgi membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 41 all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154) OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143) TGACAATGATCAACAACTTGA 0.408000 13 188 0 0 0.00136819 0 0 OR1J4 26219 broad.mit.edu 37 9 125282200 125282200 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr9:125282200C>T ENST00000340750.1 + 1 781 c.781C>T c.(781-783)Ctc>Ttc p.L261F NM_001004452.1 NP_001004452.1 Q8NGS1 OR1J4_HUMAN olfactory receptor, family 1, subfamily J, member 4 261 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1) 20 ACTGTATTTTCTCCCCTCATC 0.473000 5 53 0 0 0.000602214 0 0 TMPRSS15 5651 broad.mit.edu 37 21 19685372 19685372 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr21:19685372C>T ENST00000284885.3 - 18 2088 c.2055G>A c.(2053-2055)acG>acA p.T685T NM_002772.2 NP_002763.2 P98073 ENTK_HUMAN transmembrane protease, serine 15 685 SRCR. proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 85 CATTGTTGTTCGTtgtgccat 0.443000 6 72 0 0 0.00198382 0 0 PCDHB15 56121 broad.mit.edu 37 5 140626208 140626208 + Missense_Mutation SNP C C G TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr5:140626208C>G ENST00000231173.3 + 1 1062 c.1062C>G c.(1060-1062)agC>agG p.S354R NM_018935.2 NP_061758.1 Q9Y5E8 PCDBF_HUMAN 354 Cadherin 4. 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) CACTTACCAGCCCTATTCCCG 0.453000 20 80 0 0 0.000958276 0 0 FAM162B 221303 broad.mit.edu 37 6 117086375 117086375 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr6:117086375G>A ENST00000368557.4 - 2 362 c.216C>T c.(214-216)ttC>ttT p.F72F NM_001085480.2 NP_001078949.1 Q5T6X4 F162B_HUMAN family with sequence similarity 162, member B 72 integral to membrane large_intestine(2)|lung(4) 6 TTTTCTTGTCGAACTGCGAAG 0.617000 8 44 0 0 0.000442599 0 0 PAPPA2 60676 broad.mit.edu 37 1 176668661 176668661 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:176668661G>A ENST00000367662.3 + 8 4336 c.3172G>A c.(3172-3174)Gat>Aat p.D1058N NM_020318.2 NP_064714.2 Q9BXP8 PAPP2_HUMAN pappalysin 2 1058 cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 GGTTCTCCGCGATCCCCCATT 0.552000 20 154 0 0 0.00188189 0 0 PCDHB12 56124 broad.mit.edu 37 5 140590309 140590309 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr5:140590309G>A ENST00000239450.2 + 1 2019 c.1830G>A c.(1828-1830)acG>acA p.T610T PCDHB12_ENST00000541609.1_Silent_p.T273T NM_018932.3 NP_061755.1 Q9Y5F1 PCDBC_HUMAN 610 Cadherin 6. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCAAGGCCACGGAGCCCGGGC 0.711000 11 162 0 0 0.00136819 0 0 NPY4R 5540 broad.mit.edu 37 10 47087212 47087212 + Silent SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr10:47087212C>T ENST00000374312.1 + 3 848 c.429C>T c.(427-429)atC>atT p.I143I NPY4R_ENST00000395716.1_Silent_p.I143I NM_005972.4 NP_005963.3 neuropeptide Y receptor Y4 ATCAGCTCATCATCAACCCAA 0.597000 18 205 0 0 0.00121646 0 0 GAD1 2571 broad.mit.edu 37 2 171709222 171709222 + Splice_Site SNP A A T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr2:171709222A>T ENST00000358196.3 + 13 1734 c.e13-1 NM_000817.2 NP_000808.2 Q99259 DCE1_HUMAN glutamate decarboxylase 1 (brain, 67kDa) glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2) 35 L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114) TGCTTCTTTCAGGGCCAACTC 0.478000 8 43 0 0 0.000157383 0 0 FADS3 3995 broad.mit.edu 37 11 61646236 61646236 + Silent SNP G G A rs115282539 byFrequency TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr11:61646236G>A ENST00000540820.1 - 4 678 c.606C>T c.(604-606)ttC>ttT p.F202F FADS3_ENST00000525588.1_Silent_p.F174F|FADS3_ENST00000527697.1_Silent_p.F78F|FADS3_ENST00000278829.2_Silent_p.F202F Q9Y5Q0 FADS3_HUMAN fatty acid desaturase 3 202 electron transport chain|transport|unsaturated fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane|membrane fraction heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 GCCCCATCACGAACTTCTGGG 0.642000 8 22 0 0 0.000442599 0 0 DNAH5 1767 broad.mit.edu 37 5 13850769 13850769 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr5:13850769G>A ENST00000265104.4 - 31 5210 c.5106C>T c.(5104-5106)tcC>tcT p.S1702S NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1702 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) ACCCAGTAAGGGATTTCTGGC 0.463000 Kartagener syndrome 5 36 0 0 0.00116845 0 0 GRHL2 79977 broad.mit.edu 37 8 102570892 102570892 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr8:102570892G>A ENST00000251808.3 + 4 868 c.530G>A c.(529-531)gGa>gAa p.G177E GRHL2_ENST00000395927.1_Missense_Mutation_p.G161E NM_024915.3 NP_079191.2 Q6ISB3 GRHL2_HUMAN grainyhead-like 2 (Drosophila) 177 cytoplasm|nucleus DNA binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05) Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213) TATCCCCGGGGAGATGGGGAA 0.572000 4 55 0 0 0.000602214 0 0 SLC33A1 9197 broad.mit.edu 37 3 155551305 155551305 + Silent SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr3:155551305G>A ENST00000392845.2 - 4 1598 c.1218C>T c.(1216-1218)ttC>ttT p.F406F SLC33A1_ENST00000359479.3_Silent_p.F406F NM_004733.3 NP_004724.1 O00400 ACATN_HUMAN solute carrier family 33 (acetyl-CoA transporter), member 1 406 cell death|transmembrane transport endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction acetyl-CoA transporter activity endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1) 22 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) AATATATAGGGAATCCCCCTT 0.383000 18 71 0 0 0.000566183 0 0 DHX36 170506 broad.mit.edu 37 3 154032852 154032852 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr3:154032852G>A ENST00000496811.1 - 3 666 c.586C>T c.(586-588)Cgg>Tgg p.R196W DHX36_ENST00000308361.6_Missense_Mutation_p.R196W|DHX36_ENST00000329463.5_Missense_Mutation_p.R196W|DHX36_ENST00000544526.1_Missense_Mutation_p.R196W NM_020865.2 NP_065916.2 Q9H2U1 DHX36_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 36 196 cytoplasm|nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding p.R196W(1) endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1) 35 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) TCAATATACCGAAGGTCATTT 0.299000 6 25 0 0 0.00116845 0 0 KCTD20 222658 broad.mit.edu 37 6 36454665 36454665 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr6:36454665C>T ENST00000373731.2 + 8 1364 c.973C>T c.(973-975)Cct>Tct p.P325S KCTD20_ENST00000474988.1_3'UTR|KCTD20_ENST00000536244.1_Missense_Mutation_p.P180S|KCTD20_ENST00000449081.2_Missense_Mutation_p.P159S|KCTD20_ENST00000544295.1_Missense_Mutation_p.P79S NM_173562.3 NP_775833.2 Q7Z5Y7 KCD20_HUMAN potassium channel tetramerization domain containing 20 325 voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|skin(1) 15 TGCAGGTTACCCTACCTGTAA 0.433000 8 140 0 0 0.000274275 0 0 HSPG2 3339 broad.mit.edu 37 1 22162078 22162078 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr1:22162078C>T ENST00000374695.3 - 76 10487 c.10408G>A c.(10408-10410)Gga>Aga p.G3470R NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 3470 Ig-like C2-type 20. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) CCCCAAGGTCCATGGGCCTGG 0.502000 10 52 0 0 0.000978159 0 0 PTPRS 5802 broad.mit.edu 37 19 5239014 5239014 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr19:5239014C>T ENST00000372412.4 - 13 2001 c.1768G>A c.(1768-1770)Gag>Aag p.E590K PTPRS_ENST00000588012.1_Missense_Mutation_p.E576K|PTPRS_ENST00000262963.6_Missense_Mutation_p.E585K|PTPRS_ENST00000592099.1_Missense_Mutation_p.E576K|PTPRS_ENST00000348075.2_Missense_Mutation_p.E576K|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000357368.4_Missense_Mutation_p.E589K|PTPRS_ENST00000587303.1_Missense_Mutation_p.E589K|PTPRS_ENST00000353284.2_Missense_Mutation_p.E576K Q13332 PTPRS_HUMAN protein tyrosine phosphatase, receptor type, S 589 Fibronectin type-III 3. cell adhesion integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1) 61 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182) AAGGCGTACTCCGTGTTGGGC 0.697000 19 87 0 0 0.00121646 0 0 FAM86C2P 645332 broad.mit.edu 37 11 67560735 67560735 + RNA SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr11:67560735G>A ENST00000528089.1 - 0 1015 TCATGACGAGGTTCCACTTCC 0.527000 21 93 0 0 0.00188189 0 0 MAP3K11 4296 broad.mit.edu 37 11 65373447 65373447 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr11:65373447G>A ENST00000309100.3 - 7 2194 c.1709C>T c.(1708-1710)tCc>tTc p.S570F MAP3K11_ENST00000532507.1_5'UTR|MAP3K11_ENST00000534432.1_5'UTR|MAP3K11_ENST00000530153.1_Missense_Mutation_p.S313F NM_002419.3 NP_002410.1 Q16584 M3K11_HUMAN mitogen-activated protein kinase kinase kinase 11 570 activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation centrosome|microtubule ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1) 24 AGGCTTGGGGGAACTGGGACC 0.627000 4 26 0 0 0.00024832 0 0 SLFN11 91607 broad.mit.edu 37 17 33680911 33680911 + Missense_Mutation SNP C C T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr17:33680911C>T ENST00000394566.1 - 6 1638 c.1366G>A c.(1366-1368)Gga>Aga p.G456R SLFN11_ENST00000308377.4_Missense_Mutation_p.G456R NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1 NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1 Q7Z7L1 SLN11_HUMAN schlafen family member 11 456 nucleus ATP binding autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2) 50 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) CAGATGACTCCTGGCTTCTCC 0.483000 10 30 0 0 0.000978159 0 0 AC027612.3 0 broad.mit.edu 37 2 91899626 91899627 + RNA DEL AA AA - TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr2:91899626_91899627delAA ENST00000436174.1 - 0 168 CCAGAGGCTCAAAAAAAAAAAA 0.287 3 4 --- --- --- --- GIGYF2 26058 broad.mit.edu 37 2 233697764 233697766 + In_Frame_Del DEL GCA GCA - TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr2:233697764_233697766delGCA ENST00000373566.3 + 23 2990_2992 c.2793_2795delGCA c.(2791-2796)ttg>tt p.LQ931del GIGYF2_ENST00000409547.1_In_Frame_Del_p.LQ909del|GIGYF2_ENST00000452341.2_In_Frame_Del_p.LQ740del|GIGYF2_ENST00000409451.3_In_Frame_Del_p.LQ930del|GIGYF2_ENST00000409480.1_In_Frame_Del_p.LQ931del|GIGYF2_ENST00000409196.3_In_Frame_Del_p.LQ903del|GIGYF2_ENST00000373563.4_In_Frame_Del_p.LQ909del Q6Y7W6 PERQ2_HUMAN GRB10 interacting GYF protein 2 909 Gln-rich. cell death protein binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 63 Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145) TCCGGAGGTTgcagcagcagcag 0.547 2 4 --- --- --- --- TACC3 10460 broad.mit.edu 37 4 1742558 1742559 + Frame_Shift_Ins INS - - T TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr4:1742558_1742559insT ENST00000313288.4 + 13 2174_2175 c.2068_2069insT c.(2068-2070)tcafs p.S690fs NM_006342.2 NP_006333.1 Q9Y6A5 TACC3_HUMAN transforming, acidic coiled-coil containing protein 3 690 centrosome central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Breast(71;0.212)|all_epithelial(65;0.241) OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126) TCAAGAGGAAGTTCAGAAGCAG 0.470 9 83 --- --- --- --- PTPRZ1 5803 broad.mit.edu 37 7 121653001 121653001 + Frame_Shift_Del DEL A A - TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr7:121653001delA ENST00000393386.2 + 12 4312 c.3901delA c.(3901-3903)acfs p.N1301fs PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_3'UTR NM_001206838.1|NM_002851.2 NP_001193767.1|NP_002842.2 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, Z polypeptide 1 1301 central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 106 TTTGGAGATTAACCAGGCCCA 0.368 16 54 --- --- --- --- IGSF9B 22997 broad.mit.edu 37 11 133790896 133790904 + In_Frame_Del DEL CAGGGCGGC CAGGGCGGC - TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr11:133790896_133790904delCAGGGCGGC ENST00000321016.8 - 18 2946_2954 c.2716_2724delGCCGCCCTG c.(2716-2724)del p.AAL906del IGSF9B_ENST00000533871.2_In_Frame_Del_p.AAL906del Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B 906 integral to membrane|plasma membrane breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) GCTGGGACTTCAGGGCGGCCACAGATGTG 0.675 7 121 --- --- --- --- TPTE2P1 646405 broad.mit.edu 37 13 25527490 25527491 + RNA INS - - AAAAAG TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr13:25527490_25527491insAAAAAG ENST00000429698.1 - 0 282 AGGAAGGTTCTAAAAAAAATTT 0.252 3 6 --- --- --- --- TRAV35 28647 broad.mit.edu 37 14 22689939 22689939 + RNA DEL A A - TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chr14:22689939delA ENST00000390462.1 + 0 46 TGAAAAGAGGAAAACAGAAGG 0.433 2 4 --- --- --- --- RNA5-8SP6 100873336 broad.mit.edu 37 Y 10037863 10037863 + RNA DEL C C - TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx 47f6121c-a022-4679-b0e3-a2f193a76a4c 79818eca-bdbb-470b-b217-e6711127bbdb g.chrY:10037863delC ENST00000515896.1 + 0 100 ATCGACACTTCGAACGCACTT 0.552 3 5 --- --- --- ---