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 IL20RB 53833 broad.mit.edu 37 3 136701146 136701146 + Silent SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr3:136701146G>A ENST00000329582.4 + 3 609 c.360G>A c.(358-360)caG>caA p.Q120Q IL20RB_ENST00000484501.1_Intron|IL20RB_ENST00000309741.5_Silent_p.Q73Q NM_144717.3 NP_653318.2 Q6UXL0 I20RB_HUMAN interleukin 20 receptor beta 120 Fibronectin type-III 1. integral to membrane receptor activity kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 14 TGGGCTCACAGACCTCAGCCT 0.532000 3 35 0 0 1 0 0 DLG3 1741 broad.mit.edu 37 X 69672525 69672525 + Silent SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chrX:69672525C>T ENST00000374355.3 + 1 371 c.54C>T c.(52-54)tcC>tcT p.S18S DLG3_ENST00000194900.4_Intron|DLG3_ENST00000374360.3_Intron NM_020730.2 NP_065781.1 Q92796 DLG3_HUMAN discs, large homolog 3 (Drosophila) 0 axon guidance|negative regulation of cell proliferation|synaptic transmission plasma membrane guanylate kinase activity endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1) 22 Renal(35;0.156) GCTTGGGCTCCGCCTCCGCTT 0.701000 5 2 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62288796 62288796 + Missense_Mutation SNP C C G TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr11:62288796C>G ENST00000378024.4 - 5 13367 c.13093G>C c.(13093-13095)Gat>Cat p.D4365H AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 4365 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) AGTTTTGCATCTGGACCTTCG 0.483000 48 128 0 0 1 0 0 NRIP1 8204 broad.mit.edu 37 21 16338329 16338329 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr21:16338329C>T ENST00000400202.1 - 3 2897 c.2185G>A c.(2185-2187)Gag>Aag p.E729K NRIP1_ENST00000400199.1_Missense_Mutation_p.E729K|NRIP1_ENST00000318948.4_Missense_Mutation_p.E729K P48552 NRIP1_HUMAN nuclear receptor interacting protein 1 729 androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 39 Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24) GGAGTTTTCTCTTTTTTTTCA 0.413000 67 37 0 0 1 0 0 ATAD2B 54454 broad.mit.edu 37 2 24118748 24118748 + Missense_Mutation SNP T T A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr2:24118748T>A ENST00000238789.5 - 2 652 c.309A>T c.(307-309)aaA>aaT p.K103N NM_001242338.1|NM_017552.2 NP_001229267.1|NP_060022.1 Q9ULI0 ATD2B_HUMAN ATPase family, AAA domain containing 2B 103 ATP binding|nucleoside-triphosphatase activity central_nervous_system(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GTGATTTTGATTTGTCTTTGC 0.398000 40 20 0 0 1 0 0 KRT20 54474 broad.mit.edu 37 17 39036071 39036071 + Silent SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr17:39036071G>A ENST00000167588.3 - 5 953 c.912C>T c.(910-912)ctC>ctT p.L304L NM_019010.2 NP_061883.1 P35900 K1C20_HUMAN keratin 20 304 Coil 2.|Rod. apoptosis|intermediate filament organization Golgi apparatus|intermediate filament protein binding|structural constituent of cytoskeleton NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1) 14 Breast(137;0.000301)|Ovarian(249;0.15) TTACCATGCTGAGATGGGACT 0.413000 30 49 0 0 1 0 0 RNF216 54476 broad.mit.edu 37 7 5792611 5792611 + Splice_Site SNP C C G TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr7:5792611C>G ENST00000425013.2 - 3 292 c.e3-1 RNF216_ENST00000389902.3_Splice_Site NM_207111.3|NM_207116.2 NP_996994.1|NP_996999.1 Q9NWF9 RN216_HUMAN ring finger protein 216 apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production cytoplasm|nucleus ligase activity|protein binding|zinc ion binding FBXL18/RNF216(2) breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4) 33 Ovarian(82;0.07) UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13) TTGATCCACTCTACAGGAAAG 0.488000 11 38 0 0 1 0 0 UTRN 7402 broad.mit.edu 37 6 145160364 145160364 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr6:145160364C>T ENST00000367545.3 + 71 10121 c.10121C>T c.(10120-10122)tCt>tTt p.S3374F UTRN_ENST00000367526.4_Missense_Mutation_p.S929F NM_007124.2 NP_009055.2 P46939 UTRO_HUMAN utrophin 3374 muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 148 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) CCTCAGCATTCTGCACTGAGC 0.522000 23 51 0 0 1 0 0 CHD5 26038 broad.mit.edu 37 1 6208929 6208929 + Silent SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr1:6208929G>A ENST00000262450.3 - 9 1467 c.1368C>T c.(1366-1368)ctC>ctT p.L456L CHD5_ENST00000378021.1_5'UTR NM_015557.2 NP_056372.1 Q8TDI0 CHD5_HUMAN chromodomain helicase DNA binding protein 5 456 Pro-rich. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 16 Ovarian(185;0.0634) all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15) Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193) AGCGCGGGCAGAGCCATTCAC 0.721000 40 35 0 0 1 0 0 TECPR1 25851 broad.mit.edu 37 7 97870580 97870580 + Missense_Mutation SNP G G C TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr7:97870580G>C ENST00000542604.1 - 6 658 c.424C>G c.(424-426)Ctg>Gtg p.L142V TECPR1_ENST00000379795.3_Intron|TECPR1_ENST00000447648.2_Intron Q7Z6L1 TCPR1_HUMAN tectonin beta-propeller repeat containing 1 220 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 CAGGGACACAGCACCTGCATC 0.637000 OREG0018181 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 29 0 0 1 0 0 ATP7A 538 broad.mit.edu 37 X 77275802 77275802 + Silent SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chrX:77275802G>A ENST00000341514.6 + 13 2843 c.2688G>A c.(2686-2688)caG>caA p.Q896Q ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Silent_p.Q818Q NM_000052.5 NP_000043.4 Q04656 ATP7A_HUMAN ATPase, Cu++ transporting, alpha polypeptide 896 ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1) 53 CCATTAACCAGAACGGGTCAC 0.448000 74 11 0 0 1 0 0 PHF10 55274 broad.mit.edu 37 6 170118987 170118987 + Silent SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr6:170118987C>T ENST00000339209.4 - 3 345 c.222G>A c.(220-222)ttG>ttA p.L74L PHF10_ENST00000366780.4_Silent_p.L74L|PHF10_ENST00000464779.1_5'UTR NM_018288.3|NM_133325.2 NP_060758.2|NP_579866.2 Q8WUB8 PHF10_HUMAN PHD finger protein 10 74 nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent npBAF complex zinc ion binding endometrium(2)|large_intestine(2)|liver(3)|lung(4)|prostate(2)|urinary_tract(1) 14 Breast(66;5.08e-05)|Ovarian(120;0.208) OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176) TGTACTCTATCAAGTTTTCTG 0.308000 16 42 0 0 1 0 0 PGD 5226 broad.mit.edu 37 1 10478965 10478965 + Missense_Mutation SNP G G C TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr1:10478965G>C ENST00000538557.1 + 11 1397 c.1153G>C c.(1153-1155)Gct>Cct p.A385P PGD_ENST00000498356.1_3'UTR|PGD_ENST00000270776.8_Missense_Mutation_p.A398P|PGD_ENST00000541529.1_Missense_Mutation_p.A376P P52209 6PGD_HUMAN phosphogluconate dehydrogenase 398 pentose-phosphate shunt, oxidative branch cytosol NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 14 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487) CTTTAAGTCAGCTGTTGAAAA 0.438000 19 146 0 0 1 0 0 TP63 8626 broad.mit.edu 37 3 189456507 189456507 + Missense_Mutation SNP G G C TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr3:189456507G>C ENST00000264731.3 + 3 357 c.268G>C c.(268-270)Gag>Cag p.E90Q TP63_ENST00000440651.2_Missense_Mutation_p.E90Q|TP63_ENST00000392460.3_Missense_Mutation_p.E90Q|TP63_ENST00000418709.2_Missense_Mutation_p.E90Q|TP63_ENST00000320472.5_Missense_Mutation_p.E90Q|TP63_ENST00000382063.4_Missense_Mutation_p.E90Q NM_001114978.1|NM_003722.4 NP_001108450.1|NP_003713.3 Q9H3D4 P63_HUMAN tumor protein p63 90 Transcription activation. anti-apoptosis|cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6) 61 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) AAACAAGATTGAGATTAGCAT 0.468000 HNSCC(45;0.13) 12 32 0 0 1 0 0 VAV3 10451 broad.mit.edu 37 1 108247667 108247667 + Missense_Mutation SNP C C G TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr1:108247667C>G ENST00000370056.4 - 16 1793 c.1519G>C c.(1519-1521)Gac>Cac p.D507H VAV3_ENST00000527011.1_Missense_Mutation_p.D507H|VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000371846.4_Missense_Mutation_p.D442H NM_006113.4 NP_006104.4 Q9UKW4 VAV3_HUMAN vav 3 guanine nucleotide exchange factor 507 angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1) 58 all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594) Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204) TCTGCATAGTCTGGTCTTATG 0.388000 5 55 0 0 1 0 0 ACACA 31 broad.mit.edu 37 17 35545337 35545337 + Silent SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr17:35545337G>A ENST00000353139.5 - 39 5137 c.4656C>T c.(4654-4656)atC>atT p.I1552I ACACA_ENST00000394406.2_Silent_p.I1515I|ACACA_ENST00000360679.3_Silent_p.I1457I|ACACA_ENST00000335166.5_Silent_p.I1437I NM_198834.1|NM_198839.1 NP_942131.1|NP_942136.1 Q13085 ACACA_HUMAN acetyl-CoA carboxylase alpha 1515 acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 83 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) GGCGAATGTTGATTTTCAGTT 0.493000 40 46 0 0 1 0 0 MPZL3 196264 broad.mit.edu 37 11 118104205 118104205 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr11:118104205C>T ENST00000525386.1 - 2 159 c.107G>A c.(106-108)cGa>cAa p.R36Q MPZL3_ENST00000527472.1_Silent_p.A205A|MPZL3_ENST00000278949.4_Silent_p.A217A Q6UWV2 MPZL3_HUMAN myelin protein zero-like 3 0 Ig-like V-type. cell adhesion integral to membrane autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(2)|upper_aerodigestive_tract(1) 8 all_hematologic(175;0.046) Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;3.28e-05) CACAAAGCCTCGCCATACACG 0.478000 16 17 0 0 1 0 0 LRRK2 120892 broad.mit.edu 37 12 40728861 40728861 + Silent SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr12:40728861C>T ENST00000298910.7 + 40 5908 c.5850C>T c.(5848-5850)gcC>gcT p.A1950A NM_198578.3 NP_940980 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 1950 Protein kinase. activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2) 181 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) TGGAGTTAGCCTCCAAGGGTT 0.542000 10 101 0 0 1 0 0 MYO5C 55930 broad.mit.edu 37 15 52505468 52505468 + Nonsense_Mutation SNP G G T rs112120821 TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr15:52505468G>T ENST00000261839.7 - 34 4219 c.4058C>A c.(4057-4059)tCg>tAg p.S1353* NM_018728.3 NP_061198.2 Q9NQX4 MYO5C_HUMAN myosin VC 1353 myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 all cancers(107;0.0137) TCCTGAGGACGAGTGCACATC 0.468000 23 52 4.7796e-09 4.92941e-09 1 1 0 METTL24 728464 broad.mit.edu 37 6 110567454 110567454 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr6:110567454G>A ENST00000338882.4 - 5 795 c.796C>T c.(796-798)Ctc>Ttc p.L266F CDC40_ENST00000368930.1_Intron NM_001123364.1 NP_001116836.1 Q5JXM2 CF186_HUMAN methyltransferase like 24 266 extracellular region TCTGCCTTGAGAACGTCAATC 0.368000 8 25 0 0 1 0 0 DEPDC4 120863 broad.mit.edu 37 12 100657670 100657670 + Splice_Site SNP T T C TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr12:100657670T>C ENST00000416321.1 - 2 161 c.159A>G c.(157-159)ggA>ggG p.G53G NM_152317.2 NP_689530.1 Q8N2C3 DEPD4_HUMAN DEP domain containing 4 53 intracellular signal transduction NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)|urinary_tract(1) 15 GACCAGAGCATCCTGAAAAAA 0.338000 10 22 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179469870 179469870 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr2:179469870C>T ENST00000589042.1 - 280 54258 c.54034G>A c.(54034-54036)Gat>Aat p.D18012N TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D9139N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D15444N|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D8947N|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D9072N|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D16371N NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 16371 Fibronectin type-III 30. 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) TGAAGTGCATCAGTGGGTTTT 0.473000 7 75 0 0 1 0 0 RAB3GAP2 25782 broad.mit.edu 37 1 220330660 220330660 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr1:220330660C>T ENST00000358951.2 - 31 3623 c.3507G>A c.(3505-3507)atG>atA p.M1169I NM_012414.3 NP_036546.2 Q9H2M9 RBGPR_HUMAN RAB3 GTPase activating protein subunit 2 (non-catalytic) 1169 intracellular protein transport cytoplasm|soluble fraction GTPase activator activity|protein heterodimerization activity breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1) 39 GBM - Glioblastoma multiforme(131;0.0443) GAGAAAACCTCATGACTGCAT 0.478000 11 16 0 0 1 0 0 SCP2 6342 broad.mit.edu 37 1 53513540 53513540 + Missense_Mutation SNP T T G TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr1:53513540T>G ENST00000488965.1 + 3 184 c.137T>G c.(136-138)cTg>cGg p.L46R SCP2_ENST00000435345.2_Silent_p.A89A|SCP2_ENST00000371509.4_Silent_p.A449A|SCP2_ENST00000407246.2_Silent_p.A469A|SCP2_ENST00000430330.2_Silent_p.A86A|SCP2_ENST00000408941.3_Missense_Mutation_p.L46R|SCP2_ENST00000528311.1_Silent_p.A412A|SCP2_ENST00000371514.3_Silent_p.A493A P22307 NLTP_HUMAN sterol carrier protein 2 0 bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|lipid transport mitochondrion|nucleus|peroxisomal matrix propanoyl-CoA C-acyltransferase activity|propionyl-CoA C2-trimethyltridecanoyltransferase activity|protein binding|sterol binding breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1) 15 ATAAGAAGGCTGACTGCACAA 0.413000 44 31 0 0 1 0 0 B3GNT3 10331 broad.mit.edu 37 19 17922739 17922739 + Silent SNP G G T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr19:17922739G>T ENST00000318683.6 + 3 1074 c.927G>T c.(925-927)ctG>ctT p.L309L B3GNT3_ENST00000595387.1_Silent_p.L309L NM_014256.3 NP_055071.2 Q9Y2A9 B3GN3_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 309 protein glycosylation Golgi membrane|integral to plasma membrane galactosyltransferase activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 21 TTGAGGGACTGAAGCCTGCCT 0.632000 34 80 4.34311e-12 4.52652e-12 1 1 0 KIAA0196 9897 broad.mit.edu 37 8 126073338 126073338 + Missense_Mutation SNP G G T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr8:126073338G>T ENST00000318410.7 - 12 1856 c.1507C>A c.(1507-1509)Caa>Aaa p.Q503K KIAA0196_ENST00000517845.1_Missense_Mutation_p.Q355K NM_014846.3 NP_055661.3 Q12768 STRUM_HUMAN KIAA0196 503 cell death WASH complex NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 42 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205) TCCAAAGCTTGTATCAGTTGT 0.388000 25 48 1.77063e-15 1.85943e-15 1 1 0 PRODH 5625 broad.mit.edu 37 22 18918670 18918670 + Silent SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr22:18918670G>A ENST00000357068.6 - 2 580 c.315C>T c.(313-315)ttC>ttT p.F105F PRODH_ENST00000420436.1_5'UTR|PRODH_ENST00000334029.2_5'UTR NM_016335.4 NP_057419 O43272 PROD_HUMAN proline dehydrogenase (oxidase) 1 105 glutamate biosynthetic process|induction of apoptosis by oxidative stress|proline catabolic process mitochondrial inner membrane|mitochondrial matrix proline dehydrogenase activity breast(1)|endometrium(3)|lung(4)|upper_aerodigestive_tract(1) 9 L-Proline(DB00172) TGAGCTTGTTGAATAGCCTCT 0.547000 11 30 0 0 1 0 0 ZNF423 23090 broad.mit.edu 37 16 49671467 49671467 + Silent SNP G G C TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr16:49671467G>C ENST00000561648.1 - 4 1649 c.1596C>G c.(1594-1596)ctC>ctG p.L532L ZNF423_ENST00000562871.1_Silent_p.L472L|ZNF423_ENST00000535559.1_Silent_p.L415L|ZNF423_ENST00000563137.2_Silent_p.L472L|ZNF423_ENST00000262383.2_Silent_p.L532L|ZNF423_ENST00000567169.1_Silent_p.L415L|ZNF423_ENST00000562520.1_Silent_p.L472L NM_001271620.1 NP_001258549.1 Q2M1K9 ZN423_HUMAN zinc finger protein 423 532 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) TGTGCTCGGTGAGGGAGGACT 0.592000 9 30 0 0 1 0 0 SEMG1 6406 broad.mit.edu 37 20 43836925 43836925 + Silent SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr20:43836925G>A ENST00000372781.3 + 2 1044 c.987G>A c.(985-987)caG>caA p.Q329Q SEMG1_ENST00000244069.6_Intron NM_003007.3 NP_002998.1 semenogelin I cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1) 32 Myeloproliferative disorder(115;0.0122) CTCAAAAACAGATAACAATTC 0.403000 16 57 0 0 1 0 0 CCDC158 339965 broad.mit.edu 37 4 77317612 77317612 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr4:77317612G>A ENST00000388914.3 - 3 250 c.98C>T c.(97-99)tCt>tTt p.S33F CCDC158_ENST00000434846.2_Missense_Mutation_p.S33F|CCDC158_ENST00000504868.1_5'UTR NM_001042784.1 NP_001036249.1 Q5M9N0 CD158_HUMAN coiled-coil domain containing 158 33 breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1) 56 ACCACGAATAGATGACACAAA 0.328000 11 33 0 0 1 0 0 SEPT12 124404 broad.mit.edu 37 16 4834045 4834045 + Missense_Mutation SNP G G C TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr16:4834045G>C ENST00000268231.8 - 5 662 c.399C>G c.(397-399)atC>atG p.I133M SEPT12_ENST00000396693.5_Intron NM_144605.4 NP_653206.2 Q8IYM1 SEP12_HUMAN septin 12 133 cell cycle|cell division cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3) 23 ATTGCTCGTTGATGTAGCCCA 0.622000 8 68 0 0 1 0 0 KIF21A 55605 broad.mit.edu 37 12 39726900 39726900 + Missense_Mutation SNP G G C TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr12:39726900G>C ENST00000395670.3 - 19 2916 c.2497C>G c.(2497-2499)Ctt>Gtt p.L833V KIF21A_ENST00000361961.3_Missense_Mutation_p.L820V|KIF21A_ENST00000361418.5_Missense_Mutation_p.L833V|KIF21A_ENST00000541463.2_Missense_Mutation_p.L797V|KIF21A_ENST00000544797.2_Missense_Mutation_p.L820V Q7Z4S6 KI21A_HUMAN kinesin family member 21A 833 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity p.L820V(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 86 Lung NSC(34;0.179)|all_lung(34;0.213) TGCCGACGAAGAGCCGTAACC 0.448000 14 90 0 0 1 0 0 MRPL47 57129 broad.mit.edu 37 3 179322394 179322394 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr3:179322394C>T ENST00000476781.1 - 1 48 c.19G>A c.(19-21)Gcc>Acc p.A7T MRPL47_ENST00000392659.2_5'UTR|MRPL47_ENST00000259038.2_Missense_Mutation_p.A7T NM_020409.2 NP_065142.2 Q9HD33 RM47_HUMAN mitochondrial ribosomal protein L47 7 translation mitochondrial ribosome structural constituent of ribosome breast(1)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|stomach(1) 11 all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191) OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18) CAAAGAAGGGCCAAACCGGCC 0.527000 27 53 0 0 1 0 0 TNFRSF17 608 broad.mit.edu 37 16 12061589 12061589 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr16:12061589C>T ENST00000053243.1 + 3 658 c.440C>T c.(439-441)cCa>cTa p.P147L TNFRSF17_ENST00000396495.3_Missense_Mutation_p.P98L|RP11-166B2.1_ENST00000532936.1_Intron NM_001192.2 NP_001183.2 Q02223 TNR17_HUMAN tumor necrosis factor receptor superfamily, member 17 147 cell proliferation|multicellular organismal development endomembrane system|integral to membrane|plasma membrane large_intestine(3)|lung(3) 6 TTTCCACTCCCAGCTATGGAG 0.502000 T IL2 intestinal T-cell lymphoma 18 125 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141738409 141738409 + Silent SNP G G C TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr7:141738409G>C ENST00000475668.2 + 19 2364 c.2310G>C c.(2308-2310)ctG>ctC p.L770L MGAM_ENST00000549489.2_Silent_p.L770L O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 770 Maltase. 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) CTCCAGTTCTGGATGAAGTAA 0.493000 4 9 0 0 1 0 0 ETV7 51513 broad.mit.edu 37 6 36343692 36343692 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr6:36343692C>T ENST00000339796.5 - 3 1108 c.263G>A c.(262-264)tGc>tAc p.C88Y ETV7_ENST00000373738.1_Intron|ETV7_ENST00000538992.1_Intron|ETV7_ENST00000340181.4_Missense_Mutation_p.C88Y|ETV7_ENST00000373737.4_Missense_Mutation_p.C88Y NM_001207035.1 NP_001193964.1 Q9Y603 ETV7_HUMAN ets variant 7 88 PNT. organ morphogenesis|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4) 10 GGTGAGGATGCAGAGGGCGCG 0.647000 4 71 0 0 1 0 0 ZFPM2 23414 broad.mit.edu 37 8 106813558 106813558 + Silent SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr8:106813558C>T ENST00000407775.2 + 8 1498 c.1248C>T c.(1246-1248)acC>acT p.T416T RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000378472.4_Silent_p.T147T|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000520492.1_Silent_p.T284T|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000517361.1_Silent_p.T284T|RP11-152P17.2_ENST00000520433.1_RNA NM_012082.3 NP_036214.2 Q8WW38 FOG2_HUMAN zinc finger protein, FOG family member 2 416 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 99 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) ACTTATTGACCAGAAGCGAAC 0.498000 15 22 0 0 1 0 0 IGHV3-43 28426 broad.mit.edu 37 14 106926236 106926236 + RNA SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr14:106926236C>T ENST00000434710.1 - 0 385 TCAGACTGTTCATTTGCAGAT 0.478000 4 165 0 0 1 0 0 MAGEA12 4111 broad.mit.edu 37 X 151900649 151900649 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chrX:151900649C>T ENST00000393900.3 - 3 505 c.152G>A c.(151-153)cGg>cAg p.R51Q CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000357916.4_Missense_Mutation_p.R51Q|MAGEA12_ENST00000393869.3_Missense_Mutation_p.R51Q NM_001166386.1 NP_001159858.1 P43365 MAGAC_HUMAN melanoma antigen family A, 12 51 breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 Acute lymphoblastic leukemia(192;6.56e-05) AGGCACCTCCCGCAGGGTGAC 0.617000 42 7 0 0 1 0 0 MN1 4330 broad.mit.edu 37 22 28195820 28195820 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr22:28195820C>T ENST00000302326.4 - 1 1666 c.712G>A c.(712-714)Gag>Aag p.E238K NM_002430.2 NP_002421.3 Q10571 MN1_HUMAN meningioma (disrupted in balanced translocation) 1 238 binding NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 45 GAGGGCGCCTCGCCCGGGTAA 0.637000 T ETV6 """AML, meningioma""" 3 3 0 0 1 0 0 ARPC4 10093 broad.mit.edu 37 3 9841879 9841879 + Missense_Mutation SNP G G C TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr3:9841879G>C ENST00000397261.3 + 3 697 c.133G>C c.(133-135)Gag>Cag p.E45Q ARPC4_ENST00000433034.1_Missense_Mutation_p.E64Q|ARPC4-TTLL3_ENST00000397256.1_Missense_Mutation_p.E45Q|ARPC4_ENST00000287613.7_5'UTR|ARPC4_ENST00000498623.2_5'UTR NM_005718.4 NP_005709.1 actin related protein 2/3 complex, subunit 4, 20kDa breast(1)|lung(1) 2 Medulloblastoma(99;0.227) GAGTAGCAAAGAGCTCCTGTT 0.473000 5 16 0 0 1 0 0 FRMPD2 143162 broad.mit.edu 37 10 49459609 49459609 + Splice_Site SNP C C G rs146726612 TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr10:49459609C>G ENST00000374201.3 - 2 453 c.151G>C c.(151-153)Gat>Cat p.D51H FRMPD2_ENST00000407470.4_Splice_Site_p.D42H|FRMPD2_ENST00000305531.3_Splice_Site_p.D49H NM_001018071.3|NM_001042512.2 NP_001018081|NP_001035977.2 Q68DX3 FRPD2_HUMAN FERM and PDZ domain containing 2 51 KIND. tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 66 Kidney(211;0.201) ACTCTCTTACCGTTGCGGAGG 0.547000 8 38 0 0 1 0 0 BTBD16 118663 broad.mit.edu 37 10 124058540 124058540 + Missense_Mutation SNP A A G TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr10:124058540A>G ENST00000368994.2 + 9 936 c.685A>G c.(685-687)Acc>Gcc p.T229A BTBD16_ENST00000260723.4_Missense_Mutation_p.T228A Q32M84 BTBDG_HUMAN BTB (POZ) domain containing 16 228 breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1) 15 all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238) GCAGCTCACCACCGGCTGCGA 0.532000 OREG0020592 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 14 0 0 1 0 0 ERMARD 55780 broad.mit.edu 37 6 170162547 170162547 + Silent SNP T T C TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr6:170162547T>C ENST00000588451.1 + 9 1015 c.502T>C c.(502-504)Ttg>Ctg p.L168L ERMARD_ENST00000366772.2_Silent_p.L294L|ERMARD_ENST00000366773.3_Silent_p.L294L|ERMARD_ENST00000418781.3_Silent_p.L294L|ERMARD_ENST00000392095.4_Silent_p.L168L ER membrane-associated RNA degradation 294 CGCCATATTGTTGCTGACACA 0.403000 44 73 0 0 1 0 0 PDE3A 5139 broad.mit.edu 37 12 20523043 20523043 + Silent SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr12:20523043G>A ENST00000359062.3 + 1 865 c.825G>A c.(823-825)ctG>ctA p.L275L RP11-284H19.1_ENST00000535755.1_RNA NM_000921.4|NM_001244683.1 NP_000912.3|NP_001231612.1 Q14432 PDE3A_HUMAN phosphodiesterase 3A, cGMP-inhibited 275 lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding p.L275L(1) NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 58 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) GGTCCCAGCTGATTGCTGGGA 0.627000 28 18 0 0 1 0 0 RBMS1 5937 broad.mit.edu 37 2 161135064 161135064 + Missense_Mutation SNP C C G TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr2:161135064C>G ENST00000348849.3 - 11 1487 c.1057G>C c.(1057-1059)Gga>Cga p.G353R RBMS1_ENST00000409972.1_Missense_Mutation_p.G317R|RBMS1_ENST00000392753.3_Missense_Mutation_p.G366R|RBMS1_ENST00000409075.1_Missense_Mutation_p.G317R|RBMS1_ENST00000409289.2_Missense_Mutation_p.G317R|RBMS1_ENST00000474820.1_5'UTR NM_002897.4|NM_016836.3 NP_002888.1|NP_058520.1 P29558 RBMS1_HUMAN RNA binding motif, single stranded interacting protein 1 353 DNA replication|RNA processing nucleus double-stranded DNA binding|nucleotide binding|protein binding|RNA binding|single-stranded DNA binding PLA2R1/RBMS1(2) CCTACTGTTCCGGTGCTGCCT 0.473000 OREG0015036 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 23 0 0 1 0 0 HIST1H2BG 8339 broad.mit.edu 37 6 26216532 26216532 + Missense_Mutation SNP C C G TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr6:26216532C>G ENST00000244601.3 - 1 340 c.340G>C c.(340-342)Gaa>Caa p.E114Q NM_003518.3 NP_003509.1 P62807 H2B1C_HUMAN histone cluster 1, H2bg 114 defense response to bacterium|nucleosome assembly nucleosome|nucleus DNA binding|protein binding endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 8 all_hematologic(11;0.196) TTGGTACCTTCGGACACTGCG 0.532000 21 35 0 0 1 0 0 ACSBG1 23205 broad.mit.edu 37 15 78474375 78474375 + Missense_Mutation SNP T T C TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr15:78474375T>C ENST00000258873.4 - 8 1212 c.1007A>G c.(1006-1008)tAc>tGc p.Y336C ACSBG1_ENST00000560817.1_Missense_Mutation_p.Y94C|ACSBG1_ENST00000541759.1_Missense_Mutation_p.Y94C NM_001199377.1|NM_015162.4 NP_001186306.1|NP_055977.3 Q96GR2 ACBG1_HUMAN acyl-CoA synthetase bubblegum family member 1 336 long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 37 CCACAGGTCGTAGATCTGGGC 0.642000 18 16 0 0 1 0 0 ZNF23 7571 broad.mit.edu 37 16 71482893 71482893 + Silent SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr16:71482893G>A ENST00000393539.2 - 6 1848 c.1035C>T c.(1033-1035)ttC>ttT p.F345F AC010547.9_ENST00000561908.1_3'UTR|ZNF23_ENST00000428724.2_Silent_p.F287F|ZNF23_ENST00000564528.1_Silent_p.F287F|ZNF23_ENST00000358700.2_3'UTR|ZNF23_ENST00000417828.1_Silent_p.F345F|ZNF23_ENST00000357254.4_Silent_p.F345F|ZNF23_ENST00000539742.1_5'UTR|ZNF23_ENST00000497160.1_3'UTR NM_145911.1 NP_666016.1 P17027 ZNF23_HUMAN zinc finger protein 23 345 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1) 29 Ovarian(137;0.00768) BRCA - Breast invasive adenocarcinoma(221;0.0686) AGCTGCACCTGAAGCCTTTTC 0.403000 16 38 0 0 1 0 0 OR5AK2 390181 broad.mit.edu 37 11 56757009 56757009 + Silent SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr11:56757009G>A ENST00000326855.2 + 1 663 c.621G>A c.(619-621)ttG>ttA p.L207L NM_001005323.1 NP_001005323.1 Q8NH90 O5AK2_HUMAN olfactory receptor, family 5, subfamily AK, member 2 207 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 21 GATCTAACTTGATATTCACTG 0.403000 33 92 0 0 1 0 0 IQCC 55721 broad.mit.edu 37 1 32671885 32671885 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr1:32671885G>A ENST00000537469.1 + 2 460 c.413G>A c.(412-414)cGa>cAa p.R138Q RP4-622L5.7_ENST00000421616.1_RNA|IQCC_ENST00000291358.6_Missense_Mutation_p.R58Q NM_001160042.1 NP_001153514.1 Q4KMZ1 IQCC_HUMAN IQ motif containing C 58 endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1) 15 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) CCCAGGCCGCGATTCCTCCCA 0.597000 36 23 0 0 1 0 0 SPATA21 374955 broad.mit.edu 37 1 16736161 16736161 + Silent SNP C C G TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr1:16736161C>G ENST00000335496.1 - 6 1004 c.522G>C c.(520-522)ctG>ctC p.L174L SPATA21_ENST00000466212.1_5'UTR|SPATA21_ENST00000540400.1_Silent_p.L151L NM_198546.1 NP_940948.1 Q7Z572 SPT21_HUMAN spermatogenesis associated 21 174 calcium ion binding breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2) 19 Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651) TTCTCCAGCCCAGGTCCAGGG 0.701000 12 4 0 0 1 0 0 NPHS2 7827 broad.mit.edu 37 1 179520419 179520419 + Silent SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr1:179520419C>T ENST00000367615.4 - 8 1109 c.1041G>A c.(1039-1041)ctG>ctA p.L347L AXDND1_ENST00000367618.3_Intron|NPHS2_ENST00000367616.4_Silent_p.L279L NM_014625.2 NP_055440.1 Q9NP85 PODO_HUMAN nephrosis 2, idiopathic, steroid-resistant (podocin) 347 excretion integral to plasma membrane protein binding NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 20 ACAGGCAATTCAGTAGGTCAA 0.507000 94 34 0 0 1 0 0 TOMM34 10953 broad.mit.edu 37 20 43571819 43571819 + Silent SNP G G C TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr20:43571819G>C ENST00000372813.3 - 7 1013 c.861C>G c.(859-861)ctC>ctG p.L287L PABPC1L_ENST00000490798.1_Intron|PABPC1L_ENST00000372819.1_Intron NM_006809.4 NP_006800.2 Q15785 TOM34_HUMAN translocase of outer mitochondrial membrane 34 287 protein targeting to mitochondrion integral to membrane|mitochondrial outer membrane heat shock protein binding|signal sequence binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1) 11 Myeloproliferative disorder(115;0.0122) CAATCTGTAGGAGGTTGCTGA 0.517000 11 62 0 0 1 0 0 KIFC2 90990 broad.mit.edu 37 8 145693290 145693290 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr8:145693290G>A ENST00000301332.2 + 7 1107 c.730G>A c.(730-732)Gag>Aag p.E244K KIFC2_ENST00000301331.5_5'UTR NM_145754.2 NP_665697.1 Q96AC6 KIFC2_HUMAN kinesin family member C2 244 Gln-rich. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1) 19 all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055) TCTGGAGAACGAGGCCCTGAA 0.657000 OREG0019057 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 13 0 0 1 0 0 ARHGEF10L 55160 broad.mit.edu 37 1 17981180 17981180 + Nonsense_Mutation SNP C C G TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr1:17981180C>G ENST00000361221.3 + 23 2603 c.2444C>G c.(2443-2445)tCa>tGa p.S815* ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000452522.1_Nonsense_Mutation_p.S776*|ARHGEF10L_ENST00000375415.1_Nonsense_Mutation_p.S776*|ARHGEF10L_ENST00000434513.1_Nonsense_Mutation_p.S810*|ARHGEF10L_ENST00000167825.4_Nonsense_Mutation_p.S518*|ARHGEF10L_ENST00000375408.3_Nonsense_Mutation_p.S588* NM_018125.3 NP_060595 Q9HCE6 ARGAL_HUMAN Rho guanine nucleotide exchange factor (GEF) 10-like 815 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 43 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;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204) CTGGGTTTCTCAGCAGTCAGC 0.602000 16 148 0 0 1 0 0 TRBV4-1 28617 broad.mit.edu 37 7 142013470 142013470 + RNA SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr7:142013470C>T ENST00000390357.3 + 0 354 AGCCCTGTATCTCTGCGCCAG 0.587000 48 54 0 0 1 0 0 TIMM21 29090 broad.mit.edu 37 18 71816166 71816166 + Silent SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr18:71816166G>A ENST00000580087.1 + 1 409 c.123G>A c.(121-123)ttG>ttA p.L41L TIMM21_ENST00000169551.6_Silent_p.L41L Q9BVV7 TI21L_HUMAN translocase of inner mitochondrial membrane 21 homolog (yeast) 41 protein transport|transmembrane transport integral to membrane|mitochondrial membrane AGCCCAGTTTGAGATGTGGGC 0.502000 196 185 0 0 1 0 0 FOXF2 2295 broad.mit.edu 37 6 1390701 1390701 + Silent SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr6:1390701C>T ENST00000259806.1 + 1 633 c.519C>T c.(517-519)taC>taT p.Y173Y NM_001452.1 NP_001443.1 Q12947 FOXF2_HUMAN forkhead box F2 173 epithelial to mesenchymal transition|genitalia development|palate development|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding large_intestine(2)|lung(5)|prostate(1) 8 Ovarian(93;0.0733) all_lung(73;0.0713)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.095) AGGGCCACTACTGGACCATCG 0.662000 38 60 0 0 1 0 0 MTCH2 23788 broad.mit.edu 37 11 47652135 47652135 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr11:47652135G>A ENST00000302503.3 - 8 668 c.511C>T c.(511-513)Cgg>Tgg p.R171W MTCH2_ENST00000542981.1_Missense_Mutation_p.R23W NM_014342.3 NP_055157.1 Q9Y6C9 MTCH2_HUMAN mitochondrial carrier 2 171 transport integral to membrane|mitochondrial inner membrane endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 11 CCCTCTTCCCGATAGATGGTT 0.328000 20 50 0 0 1 0 0 LAMA3 3909 broad.mit.edu 37 18 21479384 21479384 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr18:21479384G>A ENST00000313654.9 + 47 6210 c.5969G>A c.(5968-5970)aGa>aAa p.R1990K LAMA3_ENST00000269217.6_Missense_Mutation_p.R381K|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000399516.3_Intron|LAMA3_ENST00000587184.1_Intron NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 1990 Domain II and I. 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) AAGCACCTCAGAGAAGCAGAA 0.488000 21 30 0 0 1 0 0 HTR2B 3357 broad.mit.edu 37 2 231988396 231988396 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr2:231988396G>A ENST00000258400.3 - 2 595 c.83C>T c.(82-84)tCt>tTt p.S28F PSMD1_ENST00000308696.6_Intron|PSMD1_ENST00000373635.4_Intron|PSMD1_ENST00000409643.1_Intron NM_000867.4 NP_000858.3 P41595 5HT2B_HUMAN 5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled 28 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cardiac muscle hypertrophy|cellular response to calcium ion|cellular response to temperature stimulus|cGMP biosynthetic process|embryonic morphogenesis|ERK1 and ERK2 cascade|G-protein coupled receptor internalization|heart morphogenesis|intestine smooth muscle contraction|negative regulation of apoptosis|negative regulation of autophagy|neural crest cell migration|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|phosphorylation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of cytokine secretion|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAP kinase activity|positive regulation of nitric-oxide synthase activity|protein kinase C signaling cascade|regulation of behavior|release of sequestered calcium ion into cytosol|response to drug|vasoconstriction cytoplasm|integral to membrane|plasma membrane calcium channel activity|drug binding|G-protein alpha-subunit binding|phosphatidylinositol phospholipase C activity|Ras GTPase activator activity|serotonin binding|serotonin receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1) 11 Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232) Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141) Chlorprothixene(DB01239)|Eletriptan(DB00216)|Fenfluramine(DB00574)|Methotrimeprazine(DB01403)|Minaprine(DB00805)|Quetiapine(DB01224)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Triflupromazine(DB00508) CCAGTTAGAAGAGATAACGTG 0.413000 15 102 0 0 1 0 0 LRRC49 54839 broad.mit.edu 37 15 71256165 71256165 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr15:71256165C>T ENST00000260382.5 + 9 1075 c.815C>T c.(814-816)tCg>tTg p.S272L LRRC49_ENST00000544974.2_Missense_Mutation_p.S262L|LRRC49_ENST00000560691.1_5'UTR|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000560369.1_Missense_Mutation_p.S277L|LRRC49_ENST00000560158.2_Intron|LRRC49_ENST00000443425.2_Missense_Mutation_p.S228L NM_001199017.1|NM_017691.3 NP_001185946.1|NP_060161.2 Q8IUZ0 LRC49_HUMAN leucine rich repeat containing 49 272 cytoplasm|microtubule breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3) 34 TCTTCCCTCTCGGACATCACC 0.443000 26 65 0 0 1 0 0 PRRC2C 23215 broad.mit.edu 37 1 171509877 171509877 + Missense_Mutation SNP C C T rs77985453 TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr1:171509877C>T ENST00000367742.3 + 16 3514 c.3272C>T c.(3271-3273)tCa>tTa p.S1091L PRRC2C_ENST00000392078.3_Missense_Mutation_p.S1091L|PRRC2C_ENST00000426496.2_Missense_Mutation_p.S1089L|PRRC2C_ENST00000338920.4_Missense_Mutation_p.S1089L Q9Y520 PRC2C_HUMAN proline-rich coiled-coil 2C 1089 protein C-terminus binding AAATTTCCTTCAACAGAAACT 0.488000 56 36 0 0 1 0 0 TESC 54997 broad.mit.edu 37 12 117513142 117513142 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr12:117513142G>A ENST00000335209.7 - 2 248 c.62C>T c.(61-63)tCa>tTa p.S21L TESC_ENST00000541210.1_Missense_Mutation_p.S21L|TESC_ENST00000392545.4_Missense_Mutation_p.S74L Q96BS2 TESC_HUMAN tescalcin 21 negative regulation of cell proliferation|positive regulation of megakaryocyte differentiation|positive regulation of transcription, DNA-dependent|regulation of cell adhesion mediated by integrin cytoplasm|lamellipodium|nucleus|plasma membrane|ruffle calcium ion binding|magnesium ion binding|phosphatase inhibitor activity|protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 6 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0297) CTGATCCGATGAGACTGAGAA 0.507000 18 24 0 0 1 0 0 F2 2147 broad.mit.edu 37 11 46747498 46747498 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr11:46747498C>T ENST00000311907.5 + 7 705 c.649C>T c.(649-651)Cgg>Tgg p.R217W F2_ENST00000530231.1_Missense_Mutation_p.R217W NM_000506.3 NP_000497.1 P00734 THRB_HUMAN coagulation factor II (thrombin) 217 Kringle 2. activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1) 27 all_lung(304;0.000414)|Lung NSC(402;0.0011) BRCA - Breast invasive adenocarcinoma(625;0.146) Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898) TGTCCCTGATCGGGGGCAGCA 0.642000 10 48 0 0 1 0 0 RARS 5917 broad.mit.edu 37 5 167919763 167919763 + Missense_Mutation SNP G G C TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr5:167919763G>C ENST00000231572.3 + 3 334 c.280G>C c.(280-282)Gat>Cat p.D94H RARS_ENST00000538719.1_5'UTR NM_002887.3 NP_002878.2 P54136 SYRC_HUMAN arginyl-tRNA synthetase 94 arginyl-tRNA aminoacylation cytosol|nucleus|soluble fraction arginine-tRNA ligase activity|ATP binding|protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1) 22 Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166) Medulloblastoma(196;0.0208)|all_neural(177;0.0227) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156) TGCATATCCAGATTTGGAAAA 0.418000 32 9 0 0 1 0 0 PTPRB 5787 broad.mit.edu 37 12 70928367 70928367 + Missense_Mutation SNP C C G TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr12:70928367C>G ENST00000334414.6 - 31 6313 c.6269G>C c.(6268-6270)gGa>gCa p.G2090A RP11-588H23.3_ENST00000547656.1_RNA|PTPRB_ENST00000550857.1_Missense_Mutation_p.G1782A|PTPRB_ENST00000538708.1_Missense_Mutation_p.G1782A|RP11-588H23.3_ENST00000546836.1_RNA|PTPRB_ENST00000261266.5_Missense_Mutation_p.G1872A|PTPRB_ENST00000550358.1_Missense_Mutation_p.G2002A|RP11-588H23.3_ENST00000548687.1_RNA|RP11-588H23.3_ENST00000549460.1_RNA|PTPRB_ENST00000451516.2_Missense_Mutation_p.G1782A|RP11-588H23.3_ENST00000551438.1_RNA NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 1872 angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) TTCTGGGACTCCATGGTCTGG 0.537000 3 27 0 0 1 0 0 TUBB8P7 197331 broad.mit.edu 37 16 90162620 90162620 + RNA SNP T T G TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr16:90162620T>G ENST00000564451.1 + 0 1973 CTAGGTAAAGTGGGGAAGCAG 0.483000 4 135 0 0 1 0 0 HIST1H4I 8294 broad.mit.edu 37 6 27107346 27107346 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr6:27107346G>A ENST00000354348.2 + 1 271 c.259G>A c.(259-261)Gtg>Atg p.V87M HIST1H2BK_ENST00000396891.4_Intron NM_003495.2 NP_003486.1 P62805 H4_HUMAN histone cluster 1, H4i 87 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding lung(1) 1 CGCCATGGACGTGGTCTACGC 0.597000 T BCL6 NHL 27 6 0 0 1 0 0 ADCK2 90956 broad.mit.edu 37 7 140373535 140373535 + Silent SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr7:140373535G>A ENST00000072869.4 + 1 583 c.405G>A c.(403-405)ctG>ctA p.L135L ADCK2_ENST00000476491.1_Silent_p.L135L NM_052853.3 NP_443085.2 Q7Z695 ADCK2_HUMAN aarF domain containing kinase 2 135 integral to membrane ATP binding|protein serine/threonine kinase activity cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4) 15 Melanoma(164;0.00956) ACCTGCTTCTGAAAGCCACCG 0.607000 22 65 0 0 1 0 0 PLXNA2 5362 broad.mit.edu 37 1 208252746 208252746 + Silent SNP G G C TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr1:208252746G>C ENST00000367033.3 - 12 3202 c.2445C>G c.(2443-2445)ctC>ctG p.L815L NM_025179.3 NP_079455.3 O75051 PLXA2_HUMAN plexin A2 815 axon guidance integral to membrane|intracellular|plasma membrane NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3) 80 OV - Ovarian serous cystadenocarcinoma(81;0.199) GGTCGGCCTTGAGGCAGAGGC 0.617000 3 9 0 0 1 0 0 TM2D1 83941 broad.mit.edu 37 1 62190813 62190813 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr1:62190813C>T ENST00000371180.2 - 1 282 c.166G>A c.(166-168)Gag>Aag p.E56K TM2D1_ENST00000294613.5_5'UTR|TM2D1_ENST00000606498.1_5'UTR NM_032027.2 NP_114416.1 Q9BX74 TM2D1_HUMAN TM2 domain containing 1 0 apoptosis large_intestine(2)|lung(3)|ovary(1) 6 GACACTTTCTCGCCACTTCCG 0.642000 20 26 0 0 1 0 0 AKAP9 10142 broad.mit.edu 37 7 91652316 91652316 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr7:91652316C>T ENST00000359028.2 + 15 4402 c.4177C>T c.(4177-4179)Ccg>Tcg p.P1393S AKAP9_ENST00000356239.3_Missense_Mutation_p.P1381S|AKAP9_ENST00000358100.2_Missense_Mutation_p.P1393S Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 1393 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) GTCCACGGTTCCGCCAAGGTA 0.368000 T BRAF papillary thyroid 27 46 0 0 1 0 0 PDE1C 5137 broad.mit.edu 37 7 32109933 32109933 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr7:32109933C>T ENST00000396184.3 - 2 277 c.73G>A c.(73-75)Gag>Aag p.E25K PDE1C_ENST00000321453.7_Missense_Mutation_p.E25K|PDE1C_ENST00000396182.2_Missense_Mutation_p.E25K|PDE1C_ENST00000396191.1_Missense_Mutation_p.E25K|PDE1C_ENST00000396193.1_Intron NM_005020.2 NP_005011.1 Q14123 PDE1C_HUMAN phosphodiesterase 1C, calmodulin-dependent 70kDa 25 activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 81 GBM - Glioblastoma multiforme(11;0.216) CAGATTTTCTCGATCTGTTCC 0.512000 31 77 0 0 1 0 0 CKAP5 9793 broad.mit.edu 37 11 46792402 46792402 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr11:46792402G>A ENST00000529230.1 - 25 3168 c.3122C>T c.(3121-3123)gCc>gTc p.A1041V CKAP5_ENST00000415402.1_Missense_Mutation_p.A1041V|CKAP5_ENST00000312055.5_Missense_Mutation_p.A1041V|CKAP5_ENST00000354558.3_Missense_Mutation_p.A1041V Q14008 CKAP5_HUMAN cytoskeleton associated protein 5 1041 cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization centrosome|cytosol protein binding breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 43 GAATGGCAAGGCATCTTGGGC 0.443000 37 77 0 0 1 0 0 EIF4EBP2 1979 broad.mit.edu 37 10 72179697 72179697 + Missense_Mutation SNP T T G TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr10:72179697T>G ENST00000373218.4 + 2 196 c.173T>G c.(172-174)tTt>tGt p.F58C NM_004096.4 NP_004087.1 Q13542 4EBP2_HUMAN eukaryotic translation initiation factor 4E binding protein 2 58 negative regulation of translational initiation|translation eukaryotic initiation factor 4E binding large_intestine(1) 1 GACAGAAAGTTTCTGTTGGAT 0.443000 22 75 0 0 1 0 0 DKK1 22943 broad.mit.edu 37 10 54074419 54074419 + Silent SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr10:54074419G>A ENST00000373970.3 + 1 364 c.225G>A c.(223-225)caG>caA p.Q75Q NM_012242.2 NP_036374.1 O94907 DKK1_HUMAN dickkopf WNT signaling pathway inhibitor 1 75 negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization extracellular space|plasma membrane growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity kidney(2)|large_intestine(4)|lung(7)|ovary(1)|upper_aerodigestive_tract(2) 16 ATAAGTACCAGACCATTGACA 0.622000 OREG0020191 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 21 0 0 1 0 0 LOC100131496 100131496 broad.mit.edu 37 20 45947812 45947812 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr20:45947812G>A ENST00000599904.1 + 1 567 c.448G>A c.(448-450)Gga>Aga p.G150R ZMYND8_ENST00000540497.1_Intron|ZMYND8_ENST00000372023.3_Intron|ZMYND8_ENST00000536340.1_Intron|ZMYND8_ENST00000396281.4_Intron|ZMYND8_ENST00000458360.2_Intron|ZMYND8_ENST00000360911.3_Intron|ZMYND8_ENST00000355972.4_Intron|ZMYND8_ENST00000446994.2_Intron|ZMYND8_ENST00000262975.4_Intron|ZMYND8_ENST00000471951.2_Intron|ZMYND8_ENST00000461685.1_Intron|ZMYND8_ENST00000311275.7_Intron|ZMYND8_ENST00000352431.2_Intron TCTCCCAGGGGGAGGAGGAAG 0.597000 5 6 0 0 1 0 0 EPS8 2059 broad.mit.edu 37 12 15822384 15822384 + Silent SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr12:15822384C>T ENST00000281172.5 - 6 889 c.453G>A c.(451-453)ctG>ctA p.L151L EPS8_ENST00000543523.1_Silent_p.L151L|EPS8_ENST00000543612.1_Silent_p.L151L NM_004447.5 NP_004438.3 Q12929 EPS8_HUMAN epidermal growth factor receptor pathway substrate 8 151 cell proliferation|epidermal growth factor receptor signaling pathway SH3/SH2 adaptor activity NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244) BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264) CTTTGCACACCAGTGCAAGAA 0.393000 17 44 0 0 1 0 0 MAP10 54627 broad.mit.edu 37 1 232941715 232941715 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr1:232941715G>A ENST00000418460.1 + 1 1073 c.946G>A c.(946-948)Gac>Aac p.D316N NM_019090.2 NP_061963.2 microtubule-associated protein 10 GCGGACTGGGGACATTGCACT 0.687000 5 13 0 0 1 0 0 CHRNG 1146 broad.mit.edu 37 2 233407218 233407218 + Nonsense_Mutation SNP G G T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr2:233407218G>T ENST00000389494.3 + 6 613 c.592G>T c.(592-594)Gag>Tag p.E198* CHRNG_ENST00000389492.3_Nonsense_Mutation_p.E146* NM_005199.4 NP_005190.4 P07510 ACHG_HUMAN cholinergic receptor, nicotinic, gamma (muscle) 198 muscle contraction cell junction|postsynaptic membrane acetylcholine receptor activity breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1) 22 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086) CATTGACCCTGAGGCCTTCAC 0.577000 13 19 7.93312e-07 8.07332e-07 1 1 0 FERMT3 83706 broad.mit.edu 37 11 63990539 63990539 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr11:63990539G>A ENST00000279227.5 + 14 1797 c.1702G>A c.(1702-1704)Gac>Aac p.D568N FERMT3_ENST00000345728.5_Missense_Mutation_p.D564N NM_178443.2 NP_848537.1 Q86UX7 URP2_HUMAN fermitin family member 3 568 integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin cell junction|cell projection|podosome integrin binding breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 18 CAGCAGGAAAGACGAGATCCT 0.637000 38 18 0 0 1 0 0 IKBKAP 8518 broad.mit.edu 37 9 111665175 111665175 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr9:111665175G>A ENST00000374647.5 - 16 2105 c.1798C>T c.(1798-1800)Cct>Tct p.P600S IKBKAP_ENST00000537196.1_Missense_Mutation_p.P251S NM_003640.3 NP_003631.2 O95163 ELP1_HUMAN inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein 600 immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex phosphorylase kinase regulator activity|protein binding|signal transducer activity NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 53 AACCGAACAGGAAATCCACCA 0.438000 17 26 0 0 1 0 0 ZNRF3 84133 broad.mit.edu 37 22 29446217 29446217 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr22:29446217C>T ENST00000544604.2 + 8 2223 c.2048C>T c.(2047-2049)tCa>tTa p.S683L ZNRF3_ENST00000402174.1_Missense_Mutation_p.S583L|ZNRF3_ENST00000406323.3_Missense_Mutation_p.S583L|ZNRF3_ENST00000332811.4_Missense_Mutation_p.S583L NM_001206998.1 NP_001193927.1 Q9ULT6 ZNRF3_HUMAN zinc and ring finger 3 683 integral to membrane zinc ion binding p.S583L(1) 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 AGCTCTACCTCAGAAGTGGGG 0.662000 26 26 0 0 1 0 0 SPAG17 200162 broad.mit.edu 37 1 118642234 118642234 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr1:118642234G>A ENST00000336338.5 - 6 889 c.824C>T c.(823-825)tCa>tTa p.S275L NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 275 cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) CATACCTTCTGACTGAAGAAG 0.388000 111 70 0 0 1 0 0 STXBP5 134957 broad.mit.edu 37 6 147525746 147525746 + Silent SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr6:147525746G>A ENST00000367481.3 + 1 186 c.78G>A c.(76-78)caG>caA p.Q26Q STXBP5-AS1_ENST00000367477.3_RNA|STXBP5_ENST00000546097.1_Silent_p.Q26Q|STXBP5_ENST00000321680.6_Silent_p.Q26Q|STXBP5_ENST00000367480.3_Silent_p.Q26Q NM_139244.4 NP_640337.3 Q5T5C0 STXB5_HUMAN syntaxin binding protein 5 (tomosyn) 26 Poly-Gln. exocytosis|positive regulation of exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle syntaxin-1 binding breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 42 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694) AGCAACAGCAGCAGCATCCGC 0.657000 10 7 0 0 1 0 0 ZNF785 146540 broad.mit.edu 37 16 30594000 30594000 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr16:30594000C>T ENST00000395216.2 - 3 1258 c.1099G>A c.(1099-1101)Gag>Aag p.E367K AC002310.7_ENST00000486926.1_RNA|ZNF785_ENST00000470110.1_Missense_Mutation_p.E352K|AC002310.7_ENST00000492040.1_RNA NM_152458.6 NP_689671.2 A8K8V0 ZN785_HUMAN zinc finger protein 785 367 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 9 GCGCGCCTCTCGCTGCAGGAG 0.642000 18 91 0 0 1 0 0 CTNND2 1501 broad.mit.edu 37 5 11117571 11117571 + Silent SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr5:11117571G>A ENST00000304623.8 - 13 2457 c.2268C>T c.(2266-2268)atC>atT p.I756I CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000511377.1_Silent_p.I665I|CTNND2_ENST00000359640.2_Silent_p.I756I|CTNND2_ENST00000458100.2_Silent_p.I323I|CTNND2_ENST00000503622.1_Silent_p.I419I NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 756 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding p.I756I(4) NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 CCTTGCTATCGATCTCACTGC 0.527000 35 97 0 0 1 0 0 TCN2 6948 broad.mit.edu 37 22 31003328 31003328 + Missense_Mutation SNP C C A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr22:31003328C>A ENST00000215838.3 + 1 504 c.10C>A c.(10-12)Ctt>Att p.L4I TCN2_ENST00000405742.3_Missense_Mutation_p.L4I|TCN2_ENST00000407817.3_Missense_Mutation_p.L4I P20062 TCO2_HUMAN transcobalamin II 4 cobalamin metabolic process|cobalamin transport|cobalt ion transport extracellular space cobalamin binding central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1) 22 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) CATGAGGCACCTTGGGGCCTT 0.612000 20 53 1.50039e-11 1.55671e-11 1 1 0 ATAD5 79915 broad.mit.edu 37 17 29187576 29187576 + Nonsense_Mutation SNP G G T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr17:29187576G>T ENST00000321990.4 + 10 3460 c.3082G>T c.(3082-3084)Gaa>Taa p.E1028* CTD-2349P21.11_ENST00000580873.1_RNA NM_024857.3 NP_079133.3 Q96QE3 ATAD5_HUMAN ATPase family, AAA domain containing 5 1028 response to DNA damage stimulus nucleus ATP binding|nucleoside-triphosphatase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1) 51 all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393) TAGGAAGTCAGAAGAACTTAG 0.333000 31 54 9.04072e-19 9.55219e-19 1 1 0 GATA3 2625 broad.mit.edu 37 10 8115823 8115823 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr10:8115823C>T ENST00000379328.3 + 6 1740 c.1172C>T c.(1171-1173)tCg>tTg p.S391L GATA3_ENST00000461472.1_3'UTR|GATA3_ENST00000346208.3_Missense_Mutation_p.S390L NM_001002295.1|NM_002051.2 NP_001002295.1|NP_002042.1 P23771 GATA3_HUMAN GATA binding protein 3 390 aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development nuclear chromatin|nucleolus|nucleoplasm core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2) 87 AAGAACAGCTCGTTTAACCCG 0.542000 """F, N, S""" breast """HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)""" 16 34 0 0 1 0 0 AMBP 259 broad.mit.edu 37 9 116840478 116840478 + Silent SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr9:116840478G>A ENST00000265132.3 - 1 274 c.12C>T c.(10-12)ctC>ctT p.L4L NM_001633.3 NP_001624.1 P02760 AMBP_HUMAN alpha-1-microglobulin/bikunin precursor 4 cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage extracellular region|plasma membrane calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 11 Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064) GCAGGGCCCCGAGGCTCCTCA 0.617000 32 5 0 0 1 0 0 BRPF3 27154 broad.mit.edu 37 6 36168652 36168652 + Missense_Mutation SNP G G C TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr6:36168652G>C ENST00000357641.6 + 2 806 c.553G>C c.(553-555)Gag>Cag p.E185Q BRPF3_ENST00000534694.1_Missense_Mutation_p.E185Q|BRPF3_ENST00000534400.1_Missense_Mutation_p.E185Q|BRPF3_ENST00000339717.7_Missense_Mutation_p.E185Q|BRPF3_ENST00000543502.1_Missense_Mutation_p.E185Q|BRPF3_ENST00000443324.2_Missense_Mutation_p.E185Q NM_015695.2 NP_056510.2 Q9ULD4 BRPF3_HUMAN bromodomain and PHD finger containing, 3 185 histone H3 acetylation|platelet activation|platelet degranulation cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2) 40 AGATACCTTTGAGCTGCTGGT 0.522000 11 31 0 0 1 0 0 CFHR5 81494 broad.mit.edu 37 1 196952176 196952176 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr1:196952176G>A ENST00000367414.5 + 2 348 c.292G>A c.(292-294)Gaa>Aaa p.E98K CFHR5_ENST00000256785.4_Missense_Mutation_p.E74K NM_030787.3 NP_110414.1 Q9BXR6 FHR5_HUMAN complement factor H-related 5 74 Sushi 2. complement activation, alternative pathway extracellular region p.E74K(1) NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 49 AACATGCACAGAAGAAGGATG 0.418000 97 53 0 0 1 0 0 AASS 10157 broad.mit.edu 37 7 121731848 121731848 + Nonsense_Mutation SNP G G C TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr7:121731848G>C ENST00000393376.1 - 17 2020 c.1925C>G c.(1924-1926)tCa>tGa p.S642* AASS_ENST00000473553.1_5'UTR|AASS_ENST00000417368.2_Nonsense_Mutation_p.S642* Q9UDR5 AASS_HUMAN aminoadipate-semialdehyde synthase 642 Saccharopine dehydrogenase. protein tetramerization mitochondrial matrix binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 54 L-Glutamic Acid(DB00142)|NADH(DB00157) TGGATTGTTTGAATGTTCAGG 0.373000 9 23 0 0 1 0 0 OGDH 4967 broad.mit.edu 37 7 44736643 44736643 + Silent SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr7:44736643C>T ENST00000222673.5 + 15 2073 c.2031C>T c.(2029-2031)gaC>gaT p.D677D OGDH_ENST00000449767.1_Silent_p.D673D|OGDH_ENST00000444676.1_Silent_p.D692D|OGDH_ENST00000543843.1_Silent_p.D628D|OGDH_ENST00000447398.1_Silent_p.D688D|OGDH_ENST00000439616.2_Silent_p.D527D NM_002541.3 NP_002532.2 Q02218 ODO1_HUMAN oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) 677 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) GCGGCCAGGACGTGGAGCGGG 0.552000 10 40 0 0 1 0 0 FNIP2 57600 broad.mit.edu 37 4 159747096 159747096 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr4:159747096G>A ENST00000264433.6 + 2 211 c.136G>A c.(136-138)Gag>Aag p.E46K FNIP2_ENST00000505445.1_3'UTR|FNIP2_ENST00000379346.3_Missense_Mutation_p.E69K NM_020840.1 NP_065891.1 Q9P278 FNIP2_HUMAN folliculin interacting protein 2 46 DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation cytoplasm protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1) 9 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.00936) TGACCTGAATGAGATTCGCCT 0.433000 72 49 0 0 1 0 0 USH2A 7399 broad.mit.edu 37 1 216108115 216108115 + Silent SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr1:216108115C>T ENST00000366943.2 - 38 7529 c.7143G>A c.(7141-7143)ctG>ctA p.L2381L USH2A_ENST00000307340.3_Silent_p.L2381L O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 2381 Fibronectin type-III 10. 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) TTGTGACATTCAGAAGGGTGT 0.323000 HNSCC(13;0.011) 31 57 0 0 1 0 0 CMYA5 202333 broad.mit.edu 37 5 79030223 79030223 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr5:79030223G>A ENST00000446378.2 + 2 5666 c.5635G>A c.(5635-5637)Gaa>Aaa p.E1879K NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 1879 perinuclear region of cytoplasm NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) GGATGTCAAAGAAACAAAAAT 0.373000 9 17 0 0 1 0 0 EIF3K 27335 broad.mit.edu 37 19 39127564 39127564 + Silent SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr19:39127564C>T ENST00000588934.1 + 5 473 c.390C>T c.(388-390)ttC>ttT p.F130F EIF3K_ENST00000592558.1_3'UTR|EIF3K_ENST00000593149.1_3'UTR|EIF3K_ENST00000248342.4_3'UTR Q9UBQ5 EIF3K_HUMAN eukaryotic translation initiation factor 3, subunit K 0 regulation of translational initiation cytosol|eukaryotic translation initiation factor 3 complex|nucleus protein binding|ribosome binding|translation initiation factor activity EIF3K/CYP39A1(2) central_nervous_system(1)|endometrium(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 8 all_cancers(60;6.42e-06)|Ovarian(47;0.103) Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272) CCAGTAACTTCAGGTGTTTAA 0.577000 36 57 0 0 1 0 0 ITPR2 3709 broad.mit.edu 37 12 26592246 26592246 + Missense_Mutation SNP G G C TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr12:26592246G>C ENST00000381340.3 - 47 6873 c.6457C>G c.(6457-6459)Cgg>Ggg p.R2153G NM_002223.2 NP_002214.2 Q14571 ITPR2_HUMAN inositol 1,4,5-trisphosphate receptor, type 2 2153 activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity ETV6/ITPR2(2) biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 125 Colorectal(261;0.0847) CTATCATGCCGGACAATCTGA 0.373000 19 69 0 0 1 0 0 PHF21A 51317 broad.mit.edu 37 11 45986877 45986877 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr11:45986877G>A ENST00000257821.4 - 9 1608 c.985C>T c.(985-987)Ctt>Ttt p.L329F PHF21A_ENST00000323180.6_Missense_Mutation_p.L329F|PHF21A_ENST00000418153.2_Missense_Mutation_p.L328F|PHF21A_ENST00000527753.1_5'UTR NM_001101802.1 NP_001095272.1 Q96BD5 PF21A_HUMAN PHD finger protein 21A 328 blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent histone deacetylase complex DNA binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2) 29 TGTTTTTCAAGACTTGGCTTG 0.502000 OREG0020936 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 10 0 0 1 0 0 PCF11 51585 broad.mit.edu 37 11 82877632 82877632 + Missense_Mutation SNP C C G TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr11:82877632C>G ENST00000298281.4 + 5 2145 c.1693C>G c.(1693-1695)Cga>Gga p.R565G NM_015885.3 NP_056969.2 O94913 PCF11_HUMAN PCF11 cleavage and polyadenylation factor subunit 565 mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage factor complex cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1) 33 TGAAGAGGAGCGACCACAAGA 0.423000 5 26 0 0 1 0 0 CELF3 11189 broad.mit.edu 37 1 151682265 151682265 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr1:151682265C>T ENST00000290583.4 - 3 1024 c.231G>A c.(229-231)atG>atA p.M77I CELF3_ENST00000470688.1_5'UTR|CELF3_ENST00000290585.4_Missense_Mutation_p.M77I NM_001172648.1|NM_007185.4 NP_001166119.1|NP_009116.3 Q5SZQ8 CELF3_HUMAN CUGBP, Elav-like family member 3 77 RRM 1. nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome cytoplasm|nucleus mRNA binding|nucleotide binding central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1) 21 TCGGCCTGTTCATCTGAAGGA 0.637000 23 58 0 0 1 0 0 ZNF628 89887 broad.mit.edu 37 19 55995051 55995051 + Missense_Mutation SNP A A G TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr19:55995051A>G ENST00000391718.2 + 3 3044 c.2479A>G c.(2479-2481)Acg>Gcg p.T827A ZNF628_ENST00000598519.1_Missense_Mutation_p.T831A NM_033113.2 NP_149104.3 Q5EBL2 ZN628_HUMAN zinc finger protein 628 827 4 X approximate tandem repeats. nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|lung(2) 7 Breast(117;0.155) BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193) GBM - Glioblastoma multiforme(193;0.0531) AGAAGTAACCACGGTCCAGCT 0.642000 9 56 0 0 1 0 0 NCOA3 8202 broad.mit.edu 37 20 46254175 46254175 + Missense_Mutation SNP A A G TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr20:46254175A>G ENST00000372004.3 + 5 523 c.307A>G c.(307-309)Aca>Gca p.T103A NCOA3_ENST00000371997.3_Missense_Mutation_p.T103A|NCOA3_ENST00000371998.3_Missense_Mutation_p.T103A|NCOA3_ENST00000341724.6_Missense_Mutation_p.T103A NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2 NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1 Q9Y6Q9 NCOA3_HUMAN nuclear receptor coactivator 3 103 androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleoplasm androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 TGTATCTTCTACAGGGCAGGG 0.373000 30 73 0 0 1 0 0 IL12RB2 3595 broad.mit.edu 37 1 67861629 67861629 + Missense_Mutation SNP G G A rs143899990 by1000genomes TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr1:67861629G>A ENST00000262345.1 + 16 3086 c.2446G>A c.(2446-2448)Gct>Act p.A816T IL12RB2_ENST00000544434.1_Missense_Mutation_p.A730T|IL12RB2_ENST00000371000.1_3'UTR NM_001559.2 NP_001550.1 Q99665 I12R2_HUMAN interleukin 12 receptor, beta 2 816 positive regulation of cell proliferation|positive regulation of interferon-gamma production integral to plasma membrane cytokine receptor activity breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 45 GGCACCTCTCGCTGACTCTCT 0.552000 45 234 0 0 1 0 0 ZNF235 9310 broad.mit.edu 37 19 44792604 44792604 + Silent SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr19:44792604G>A ENST00000291182.4 - 5 1086 c.984C>T c.(982-984)ttC>ttT p.F328F ZNF235_ENST00000589248.1_Intron|ZNF235_ENST00000589799.1_Intron NM_004234.4 NP_004225.3 Q14590 ZN235_HUMAN zinc finger protein 235 328 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) AGCTCTGACTGAAACCTTTAC 0.443000 49 67 0 0 1 0 0 CLN3 1201 broad.mit.edu 37 16 28500624 28500624 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr16:28500624C>T ENST00000569430.1 - 5 1028 c.209G>A c.(208-210)gGa>gAa p.G70E CLN3_ENST00000357806.7_Missense_Mutation_p.G70E|CLN3_ENST00000354630.5_Missense_Mutation_p.G70E|CLN3_ENST00000359984.7_Missense_Mutation_p.G70E|CLN3_ENST00000357857.9_Missense_Mutation_p.G16E|CLN3_ENST00000567963.1_Missense_Mutation_p.G70E|CLN3_ENST00000535392.1_Missense_Mutation_p.G16E|CLN3_ENST00000565316.1_Missense_Mutation_p.G70E|CLN3_ENST00000568224.1_Missense_Mutation_p.G16E|CLN3_ENST00000360019.2_Missense_Mutation_p.G70E|CLN3_ENST00000355477.5_Missense_Mutation_p.G70E|CLN3_ENST00000357076.5_Missense_Mutation_p.G70E|CLN3_ENST00000395653.4_5'UTR|CLN3_ENST00000333496.9_Missense_Mutation_p.G70E Q13286 CLN3_HUMAN ceroid-lipofuscinosis, neuronal 3 70 amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport autophagic vacuole|caveola|cytosol|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network unfolded protein binding breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1) 15 GCTCTGGTTTCCCGATGTCCT 0.547000 14 29 0 0 1 0 0 UQCRFS1 7386 broad.mit.edu 37 19 29698896 29698896 + Silent SNP A A G TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr19:29698896A>G ENST00000304863.4 - 2 806 c.384T>C c.(382-384)gcT>gcC p.A128A NM_006003.2 NP_005994.2 P47985 UCRI_HUMAN ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 128 respiratory electron transport chain integral to membrane|mitochondrial respiratory chain complex III 2 iron, 2 sulfur cluster binding|metal ion binding|ubiquinol-cytochrome-c reductase activity endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Breast(6;0.0545)|Esophageal squamous(110;0.239) Lung(7;0.092) CATTCTTGGCAGCATATGCGA 0.458000 7 61 0 0 1 0 0 OSMR 9180 broad.mit.edu 37 5 38925305 38925305 + Splice_Site SNP G G C TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr5:38925305G>C ENST00000274276.3 + 15 2446 c.e15-1 NM_003999.2 NP_003990.1 Q99650 OSMR_HUMAN oncostatin M receptor cell proliferation|positive regulation of cell proliferation oncostatin-M receptor complex growth factor binding|oncostatin-M receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 46 all_lung(31;0.000365) AAAAATCACAGATGGTTCAGA 0.328000 14 38 0 0 1 0 0 CUL4B 8450 broad.mit.edu 37 X 119691810 119691810 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chrX:119691810G>A ENST00000371322.5 - 2 702 c.641C>T c.(640-642)tCa>tTa p.S214L CUL4B_ENST00000336592.6_Missense_Mutation_p.S219L|CUL4B_ENST00000404115.3_Missense_Mutation_p.S232L NM_001079872.1 NP_001073341.1 Q13620 CUL4B_HUMAN cullin 4B 232 cell cycle|DNA repair|ubiquitin-dependent protein catabolic process Cul4B-RING ubiquitin ligase complex|nucleus protein binding|ubiquitin protein ligase binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 GTACTTAATTGAAGTACTATT 0.318000 11 29 0 0 1 0 0 PTPRG 5793 broad.mit.edu 37 3 61548000 61548000 + Silent SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr3:61548000C>T ENST00000474889.1 + 1 416 c.39C>T c.(37-39)ttC>ttT p.F13F PTPRG_ENST00000495879.1_3'UTR|PTPRG_ENST00000295874.10_Silent_p.F13F NM_002841.3 NP_002832.3 P23470 PTPRG_HUMAN protein tyrosine phosphatase, receptor type, G 13 transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane identical protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065) GGATTTTGTTCCTGAAAATCA 0.567000 73 48 0 0 1 0 0 ACOX3 8310 broad.mit.edu 37 4 8383281 8383281 + Nonsense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr4:8383281G>A ENST00000356406.5 - 14 1668 c.1591C>T c.(1591-1593)Caa>Taa p.Q531* ACOX3_ENST00000413009.2_Nonsense_Mutation_p.Q531*|ACOX3_ENST00000503233.1_Nonsense_Mutation_p.Q531* NM_003501.2 NP_003492.2 O15254 ACOX3_HUMAN acyl-CoA oxidase 3, pristanoyl 531 bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase peroxisomal matrix acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1) 42 TTTAATTTTTGATAAGTCTCT 0.388000 66 77 0 0 1 0 0 ERCC2 2068 broad.mit.edu 37 19 45872195 45872195 + Missense_Mutation SNP A A G TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr19:45872195A>G ENST00000391945.4 - 4 316 c.239T>C c.(238-240)aTt>aCt p.I80T ERCC2_ENST00000391944.3_Missense_Mutation_p.I80T|ERCC2_ENST00000221481.6_Missense_Mutation_p.I80T|ERCC2_ENST00000391940.4_Missense_Mutation_p.I56T|ERCC2_ENST00000485403.2_Missense_Mutation_p.I56T NM_000400.3 NP_000391.1 P18074 ERCC2_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 2 80 Helicase ATP-binding. cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction cytoplasm|holo TFIIH complex|MMXD complex 5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1) 9 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0226) TACCTTCTCAATCTCTGGCAC 0.587000 """Mis, N, F, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 29 41 0 0 1 0 0 FBXW7 55294 broad.mit.edu 37 4 153247280 153247280 + Nonsense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr4:153247280G>A ENST00000281708.4 - 10 2751 c.1522C>T c.(1522-1524)Caa>Taa p.Q508* FBXW7_ENST00000393956.3_Nonsense_Mutation_p.Q332*|FBXW7_ENST00000603841.1_Nonsense_Mutation_p.Q508*|FBXW7_ENST00000296555.5_Nonsense_Mutation_p.Q390*|FBXW7_ENST00000263981.5_Nonsense_Mutation_p.Q428*|FBXW7_ENST00000603548.1_Nonsense_Mutation_p.Q508* NM_033632.3 NP_361014.1 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase 508 Q -> R (in Ref. 7; AAH37320). interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleoplasm|SCF ubiquitin ligase complex protein binding p.?(1) NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6) 462 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) CCATCATATTGAACACAGCGG 0.473000 """Mis, N, D, F""" """colorectal, endometrial, T-ALL""" 21 53 0 0 1 0 0 SCAMP3 10067 broad.mit.edu 37 1 155226471 155226471 + Silent SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr1:155226471C>T ENST00000355379.3 - 7 1091 c.813G>A c.(811-813)ctG>ctA p.L271L SCAMP3_ENST00000472397.1_5'UTR|SCAMP3_ENST00000302631.3_Silent_p.L297L NM_052837.2 NP_443069.1 O14828 SCAM3_HUMAN secretory carrier membrane protein 3 297 post-Golgi vesicle-mediated transport|protein transport integral to membrane breast(1)|endometrium(3)|large_intestine(3)|lung(7)|ovary(4)|urinary_tract(1) 19 all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) TCACCCGTTTCAGCATGACAA 0.602000 5 32 0 0 1 0 0 ZNF805 390980 broad.mit.edu 37 19 57765427 57765427 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr19:57765427C>T ENST00000535550.1 + 4 1337 c.841C>T c.(841-843)Ctc>Ttc p.L281F ZNF805_ENST00000414468.2_Missense_Mutation_p.L414F|ZNF805_ENST00000354309.4_Missense_Mutation_p.L281F NM_001145078.1 NP_001138550.1 Q5CZA5 ZN805_HUMAN zinc finger protein 805 414 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(3)|lung(1)|stomach(1) 9 CCGATCCTACCTCAAAAGGCA 0.517000 22 33 0 0 1 0 0 OGDHL 55753 broad.mit.edu 37 10 50958926 50958926 + Silent SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr10:50958926G>A ENST00000374103.4 - 7 940 c.855C>T c.(853-855)agC>agT p.S285S OGDHL_ENST00000419399.1_Silent_p.S228S|OGDHL_ENST00000432695.1_Silent_p.S76S NM_018245.2 NP_060715.2 Q9ULD0 OGDHL_HUMAN oxoglutarate dehydrogenase-like 285 glycolysis mitochondrial matrix oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1) 61 TCCCCATCTCGCTGGATTTGT 0.577000 7 17 0 0 1 0 0 KRT16P3 644945 broad.mit.edu 37 17 20407203 20407203 + RNA SNP C C G TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr17:20407203C>G ENST00000580113.1 - 0 436 AAGTCACCCACCTTGTGCCTC 0.517000 9 97 0 0 1 0 0 ZNF563 147837 broad.mit.edu 37 19 12430291 12430291 + Missense_Mutation SNP T T A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr19:12430291T>A ENST00000293725.5 - 4 753 c.548A>T c.(547-549)aAc>aTc p.N183I ZNF563_ENST00000595977.1_Missense_Mutation_p.N183I NM_145276.2 NP_660319.1 Q8TA94 ZN563_HUMAN zinc finger protein 563 183 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 TCTTCGAAGGTTTCTACGAGA 0.418000 34 91 0 0 1 0 0 SLC38A2 54407 broad.mit.edu 37 12 46764346 46764346 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr12:46764346C>T ENST00000256689.5 - 4 707 c.263G>A c.(262-264)gGa>gAa p.G88E SLC38A2_ENST00000547252.1_5'UTR NM_018976.4 NP_061849.2 Q96QD8 S38A2_HUMAN solute carrier family 38, member 2 88 Regulates protein turnover upon amino acid deprivation (By similarity). cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport integral to membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 18 Lung SC(27;0.192)|Renal(347;0.236) OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374) GBM - Glioblastoma multiforme(48;0.226) CCCAAGGATTCCACTGCCCAC 0.408000 28 45 0 0 1 0 0 EIF3F 8665 broad.mit.edu 37 11 8009014 8009014 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr11:8009014C>T ENST00000533626.1 + 3 741 c.115C>T c.(115-117)Ccc>Tcc p.P39S EIF3F_ENST00000537635.1_Missense_Mutation_p.P54S|EIF3F_ENST00000449102.2_5'UTR|EIF3F_ENST00000309828.4_Missense_Mutation_p.P39S O00303 EIF3F_HUMAN eukaryotic translation initiation factor 3, subunit F 39 P -> L (in dbSNP:rs1043738). cytosol|eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1) 13 Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) ggctccggttcccgctgcggc 0.721000 OREG0020726 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 16 11 0 0 1 0 0 PLCG1 5335 broad.mit.edu 37 20 39798876 39798876 + Silent SNP G G A rs149943087 TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr20:39798876G>A ENST00000373272.2 + 24 3180 c.2775G>A c.(2773-2775)aaG>aaA p.K925K PLCG1_ENST00000373271.1_Silent_p.K925K|PLCG1_ENST00000244007.3_Silent_p.K925K NM_002660.2 NP_002651.2 P19174 PLCG1_HUMAN phospholipase C, gamma 1 925 PH 2; second part. activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway cytosol|lamellipodium|plasma membrane|ruffle calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2) 46 Myeloproliferative disorder(115;0.00878) GGGTGAAAAAGATCCGTGAAG 0.622000 15 51 0 0 1 0 0 LAMA1 284217 broad.mit.edu 37 18 7007212 7007212 + Silent SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr18:7007212G>A ENST00000389658.3 - 29 4279 c.4186C>T c.(4186-4188)Ctg>Ttg p.L1396L NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 1396 Laminin EGF-like 14; second part. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GGAGCAACCAGAGGGCGTGGT 0.587000 7 36 0 0 1 0 0 TRRAP 8295 broad.mit.edu 37 7 98569558 98569558 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr7:98569558G>A ENST00000359863.4 + 52 8017 c.7808G>A c.(7807-7809)cGa>cAa p.R2603Q TRRAP_ENST00000446306.3_Missense_Mutation_p.R2585Q|TRRAP_ENST00000355540.3_Missense_Mutation_p.R2585Q NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 2603 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) GACACTCTCCGAGAGGTGAAG 0.478000 19 45 0 0 1 0 0 TMEM203 94107 broad.mit.edu 37 9 140099717 140099717 + Silent SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr9:140099717G>A ENST00000343666.5 - 1 373 c.150C>T c.(148-150)ttC>ttT p.F50F TMEM203_ENST00000537254.1_Silent_p.F50F NM_053045.1 NP_444273.1 Q969S6 TM203_HUMAN transmembrane protein 203 50 integral to membrane central_nervous_system(1)|kidney(1) 2 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057) AGAAAGGCACGAACACGTTCC 0.637000 9 4 0 0 1 0 0 C9orf156 51531 broad.mit.edu 37 9 100672686 100672686 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr9:100672686C>T ENST00000375119.3 - 4 698 c.622G>A c.(622-624)Gag>Aag p.E208K C9orf156_ENST00000478126.1_5'UTR NM_016481.3 NP_057565.3 Q9BU70 NAP1_HUMAN chromosome 9 open reading frame 156 208 interspecies interaction between organisms hydrolase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1) 13 Acute lymphoblastic leukemia(62;0.158) GGTTGTGGCTCATCACACCCT 0.458000 41 6 0 0 1 0 0 SLC22A12 116085 broad.mit.edu 37 11 64359154 64359154 + Silent SNP C C A rs148378818 byFrequency TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr11:64359154C>A ENST00000377574.1 + 1 873 c.126C>A c.(124-126)gcC>gcA p.A42A SLC22A12_ENST00000377567.2_Silent_p.A42A|SLC22A12_ENST00000336464.7_Silent_p.A42A|SLC22A12_ENST00000473690.1_5'UTR|SLC22A12_ENST00000377572.1_Silent_p.A42A NM_144585.2 NP_653186.2 Q96S37 S22AC_HUMAN solute carrier family 22 (organic anion/urate transporter), member 12 42 cellular homeostasis|response to drug|urate metabolic process apical plasma membrane|brush border membrane|integral to membrane PDZ domain binding|urate transmembrane transporter activity p.S41fs*22(1) central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 27 ACTTCTCGGCCGCCGTGCCCA 0.627000 20 68 0.00047179 0.000475228 1 1 0 SYNE1 23345 broad.mit.edu 37 6 152690229 152690229 + Nonsense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr6:152690229G>A ENST00000367255.5 - 61 10286 c.9685C>T c.(9685-9687)Cag>Tag p.Q3229* SYNE1_ENST00000341594.5_Nonsense_Mutation_p.Q3268*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.Q3229*|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.Q3236*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.Q3236* NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 3229 cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CTGTTGAGCTGAGGCTCGTAG 0.512000 HNSCC(10;0.0054) 19 49 0 0 1 0 0 CDC42BPA 8476 broad.mit.edu 37 1 227198725 227198725 + Silent SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr1:227198725G>A ENST00000334218.5 - 34 5734 c.4792C>T c.(4792-4794)Ctg>Ttg p.L1598L CDC42BPA_ENST00000535525.1_Intron|CDC42BPA_ENST00000366764.2_Intron|CDC42BPA_ENST00000366765.3_Intron|CDC42BPA_ENST00000366769.3_Intron|CDC42BPA_ENST00000366766.2_Intron|CDC42BPA_ENST00000366767.3_Intron Q5VT25 MRCKA_HUMAN CDC42 binding protein kinase alpha (DMPK-like) 1611 actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2) 77 all_cancers(173;0.156)|Prostate(94;0.0792) GAGGAGATCAGACCGGAGTGA 0.388000 4 10 0 0 1 0 0 PROM1 8842 broad.mit.edu 37 4 16010646 16010646 + Silent SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr4:16010646G>A ENST00000505450.1 - 11 1812 c.1200C>T c.(1198-1200)ttC>ttT p.F400F PROM1_ENST00000508167.1_Silent_p.F400F|PROM1_ENST00000539194.1_Silent_p.F409F|PROM1_ENST00000543373.1_Silent_p.F400F|PROM1_ENST00000447510.2_Silent_p.F409F|PROM1_ENST00000540805.1_Silent_p.F409F|PROM1_ENST00000510224.1_Silent_p.F409F NM_001145848.1 NP_001139320.1 O43490 PROM1_HUMAN prominin 1 409 camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane beta-actinin binding|cadherin binding breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2) 35 CATAAACAGAGAATGCTGAGA 0.373000 6 16 0 0 1 0 0 ANKRD52 283373 broad.mit.edu 37 12 56637093 56637093 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr12:56637093G>A ENST00000267116.7 - 28 3185 c.3064C>T c.(3064-3066)Cca>Tca p.P1022S ANKRD52_ENST00000548241.1_5'UTR NM_173595.3 NP_775866.2 Q8NB46 ANR52_HUMAN ankyrin repeat domain 52 1022 protein binding endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1) 29 TCCTTGGGTGGGAAAGGCTTC 0.632000 9 8 0 0 1 0 0 ERBB2IP 55914 broad.mit.edu 37 5 65346724 65346724 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr5:65346724G>A ENST00000284037.5 + 20 2406 c.2017G>A c.(2017-2019)Gat>Aat p.D673N ERBB2IP_ENST00000508515.1_Missense_Mutation_p.D673N|ERBB2IP_ENST00000380943.2_Missense_Mutation_p.D673N|ERBB2IP_ENST00000380936.1_Missense_Mutation_p.D673N|ERBB2IP_ENST00000380935.1_Missense_Mutation_p.D673N|ERBB2IP_ENST00000511297.1_Missense_Mutation_p.D669N|ERBB2IP_ENST00000380939.2_Missense_Mutation_p.D673N|ERBB2IP_ENST00000506030.1_Missense_Mutation_p.D673N|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000380938.2_Missense_Mutation_p.D673N NM_001253697.1 NP_001240626.1 Q96RT1 LAP2_HUMAN erbb2 interacting protein 673 basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization basement membrane|cytoplasm|hemidesmosome|nucleus ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2) 36 Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234) UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191) TCTTAATACTGATAGTAGTCA 0.343000 8 22 0 0 1 0 0 AIM2 9447 broad.mit.edu 37 1 159043056 159043056 + Silent SNP T T C TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr1:159043056T>C ENST00000368130.4 - 2 522 c.234A>G c.(232-234)gcA>gcG p.A78A AIM2_ENST00000411768.1_5'UTR NM_004833.1 NP_004824.1 O14862 AIM2_HUMAN absent in melanoma 2 78 DAPIN. cellular response to drug|immune response|interleukin-1 beta secretion mitochondrion|nucleus breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1) 16 all_hematologic(112;0.0429) GAAGACGTTTTGCCAAAAGCA 0.468000 15 120 0 0 1 0 0 PDIK1L 149420 broad.mit.edu 37 1 26448637 26448637 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr1:26448637G>A ENST00000374271.4 + 4 882 c.595G>A c.(595-597)Gcc>Acc p.A199T PDIK1L_ENST00000374269.1_Missense_Mutation_p.A199T NM_001243532.1|NM_001243533.1|NM_152835.4 NP_001230461.1|NP_001230462.1|NP_690048.1 Q8N165 PDK1L_HUMAN PDLIM1 interacting kinase 1 like 199 Protein kinase. nucleus ATP binding|protein serine/threonine kinase activity large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 7 Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00239)|all_lung(284;0.00366)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000735)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.015)|READ - Rectum adenocarcinoma(331;0.0649) AGTTTGTTCAGCCTCTGGGCA 0.443000 10 120 0 0 1 0 0 LGR5 8549 broad.mit.edu 37 12 71918201 71918201 + Silent SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr12:71918201C>T ENST00000266674.5 + 3 611 c.300C>T c.(298-300)aaC>aaT p.N100N LGR5_ENST00000536515.1_Silent_p.N100N|LGR5_ENST00000540815.2_Silent_p.N100N O75473 LGR5_HUMAN leucine-rich repeat containing G protein-coupled receptor 5 100 integral to plasma membrane protein-hormone receptor activity NUP107/LGR5(2) endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3) 48 TTGCGGGAAACGCTCTGACAT 0.398000 8 48 0 0 1 0 0 CD1B 910 broad.mit.edu 37 1 158300752 158300752 + Silent SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr1:158300752C>T ENST00000368168.3 - 2 269 c.162G>A c.(160-162)caG>caA p.Q54Q NM_001764.2 NP_001755.1 P29016 CD1B_HUMAN CD1b molecule 54 antigen processing and presentation|immune response endosome membrane|integral to membrane|lysosomal membrane|plasma membrane protein binding breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 30 all_hematologic(112;0.0378) AGCCATGAATCTGCAAATCAT 0.488000 43 153 0 0 1 0 0 LIPN 643418 broad.mit.edu 37 10 90524173 90524173 + Missense_Mutation SNP G G T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr10:90524173G>T ENST00000404459.1 + 3 233 c.233G>T c.(232-234)cGg>cTg p.R78L NM_001102469.1 NP_001095939.1 Q5VXI9 LIPN_HUMAN lipase, family member N 78 lipid catabolic process extracellular region hydrolase activity endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1) 9 Colorectal(252;0.0161) Colorectal(12;4.83e-05)|COAD - Colon adenocarcinoma(12;6.5e-05) CCAGGTCCCCGGCCAGTTGTG 0.463000 10 36 2.80697e-09 2.89928e-09 1 1 0 SLC9A8 23315 broad.mit.edu 37 20 48467329 48467329 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr20:48467329G>A ENST00000417961.1 + 7 775 c.565G>A c.(565-567)Gtg>Atg p.V189M SLC9A8_ENST00000361573.2_Intron|SLC9A8_ENST00000539601.1_Intron|SLC9A8_ENST00000541138.1_Intron NM_001260491.1|NM_015266.2 NP_001247420.1|NP_056081.1 Q9Y2E8 SL9A8_HUMAN solute carrier family 9, subfamily A (NHE8, cation proton antiporter 8), member 8 178 Golgi membrane|integral to membrane sodium:hydrogen antiporter activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 30 BRCA - Breast invasive adenocarcinoma(9;3.91e-07) CTGTGTGTTTGTGTGTTTTAT 0.363000 39 49 0 0 1 0 0 NEK5 341676 broad.mit.edu 37 13 52682499 52682499 + Missense_Mutation SNP T T A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr13:52682499T>A ENST00000355568.4 - 8 648 c.509A>T c.(508-510)tAc>tTc p.Y170F NM_199289.1 NP_954983.1 Q6P3R8 NEK5_HUMAN NIMA-related kinase 5 170 Protein kinase. ATP binding|metal ion binding|protein serine/threonine kinase activity breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 39 Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;3.7e-08) TGGGGACAGGTAGTAAGGTGT 0.343000 41 9 0 0 1 0 0 ARHGEF10L 55160 broad.mit.edu 37 1 17965155 17965155 + Silent SNP C C G TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr1:17965155C>G ENST00000361221.3 + 20 2301 c.2142C>G c.(2140-2142)ctC>ctG p.L714L ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000452522.1_Silent_p.L675L|ARHGEF10L_ENST00000375415.1_Silent_p.L675L|ARHGEF10L_ENST00000434513.1_Silent_p.L709L|ARHGEF10L_ENST00000375420.3_Silent_p.L472L|ARHGEF10L_ENST00000167825.4_Silent_p.L417L|ARHGEF10L_ENST00000375408.3_Silent_p.L487L NM_018125.3 NP_060595 Q9HCE6 ARGAL_HUMAN Rho guanine nucleotide exchange factor (GEF) 10-like 714 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 43 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;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204) AGTGCCGTCTCAGGCTCCTGC 0.617000 4 32 0 0 1 0 0 B3GALNT1 8706 broad.mit.edu 37 3 160803733 160803733 + Silent SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr3:160803733G>A ENST00000392781.2 - 8 1557 c.810C>T c.(808-810)gtC>gtT p.V270V B3GALNT1_ENST00000392779.2_Silent_p.V270V|B3GALNT1_ENST00000320474.4_Silent_p.V270V|B3GALNT1_ENST00000473285.1_Silent_p.V270V|B3GALNT1_ENST00000417187.1_Intron|B3GALNT1_ENST00000488170.1_Silent_p.V270V|B3GALNT1_ENST00000392780.1_Silent_p.V270V NM_001038628.1 NP_001033717.1 O75752 B3GL1_HUMAN beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group) 270 protein glycosylation Golgi membrane|integral to membrane galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity breast(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 13 LUSC - Lung squamous cell carcinoma(72;4.41e-05)|Lung(72;4.61e-05) AACAGATCCCGACATAAACAT 0.363000 18 48 0 0 1 0 0 YARS2 51067 broad.mit.edu 37 12 32908711 32908711 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr12:32908711G>A ENST00000324868.8 - 1 125 c.98C>T c.(97-99)tCg>tTg p.S33L NM_001040436.2 NP_001035526.1 Q9Y2Z4 SYYM_HUMAN tyrosyl-tRNA synthetase 2, mitochondrial 33 tyrosyl-tRNA aminoacylation mitochondrial matrix ATP binding|protein binding|RNA binding|tyrosine-tRNA ligase activity endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 16 Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) L-Tyrosine(DB00135) CTGAGCGCCCGAGTGGGCCTT 0.597000 OREG0021729 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 24 101 0 0 1 0 0 SLITRK5 26050 broad.mit.edu 37 13 88329946 88329946 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr13:88329946G>A ENST00000325089.6 + 2 2522 c.2303G>A c.(2302-2304)cGa>cAa p.R768Q SLITRK5_ENST00000400028.3_Missense_Mutation_p.R527Q NM_015567.1 NP_056382.1 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 768 integral to membrane p.R768Q(1) breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4) 81 all_neural(89;0.101)|Medulloblastoma(90;0.163) TACCGCTCCCGAGAGGGCAAC 0.632000 41 11 0 0 1 0 0 PCDHGB6 56100 broad.mit.edu 37 5 140789099 140789099 + Missense_Mutation SNP G G C TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr5:140789099G>C ENST00000520790.1 + 1 1330 c.1330G>C c.(1330-1332)Gac>Cac p.D444H PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron NM_018926.2|NM_032100.1 NP_061749.1|NP_115271.1 breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2) 48 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTATGTCGCTGACATCAACGA 0.572000 10 45 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103141337 103141337 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr7:103141337G>A ENST00000428762.1 - 53 8681 c.8522C>T c.(8521-8523)tCa>tTa p.S2841L RELN_ENST00000343529.5_Missense_Mutation_p.S2841L|RELN_ENST00000424685.2_Missense_Mutation_p.S2841L|CTB-107G13.1_ENST00000422488.1_RNA NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 2841 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) CTGCATGTCTGAGTACTTCTG 0.443000 42 106 0 0 1 0 0 MICALL1 85377 broad.mit.edu 37 22 38323811 38323811 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr22:38323811C>T ENST00000215957.6 + 9 1985 c.1859C>T c.(1858-1860)tCg>tTg p.S620L MICALL1_ENST00000402631.1_3'UTR NM_033386.3 NP_203744.1 Q8N3F8 MILK1_HUMAN MICAL-like 1 620 Pro-rich. cytoplasm|cytoskeleton protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 24 Melanoma(58;0.045) CCTGGAAGCTCGTCCCCACAG 0.617000 14 31 0 0 1 0 0 ITSN1 6453 broad.mit.edu 37 21 35169762 35169762 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr21:35169762G>A ENST00000381318.3 + 18 2320 c.2032G>A c.(2032-2034)Gaa>Aaa p.E678K ITSN1_ENST00000437442.2_Missense_Mutation_p.E678K|ITSN1_ENST00000399355.2_Missense_Mutation_p.E678K|ITSN1_ENST00000381285.4_Missense_Mutation_p.E678K|ITSN1_ENST00000399326.3_Missense_Mutation_p.E678K|ITSN1_ENST00000399349.1_Missense_Mutation_p.E678K|ITSN1_ENST00000399352.1_Missense_Mutation_p.E678K|ITSN1_ENST00000399353.1_Missense_Mutation_p.E641K|ITSN1_ENST00000399338.4_Missense_Mutation_p.E678K|ITSN1_ENST00000399367.3_Missense_Mutation_p.E678K|ITSN1_ENST00000381291.4_Missense_Mutation_p.E678K|ITSN1_ENST00000379960.5_Missense_Mutation_p.E678K|AP000304.12_ENST00000429238.1_Intron NM_003024.2 NP_003015.2 Q15811 ITSN1_HUMAN intersectin 1 (SH3 domain protein) 678 KLERQ. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 67 AAAACTCCACGAAGAGGAAAA 0.502000 21 50 0 0 1 0 0 PCSK7 9159 broad.mit.edu 37 11 117098969 117098969 + Missense_Mutation SNP C C G TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr11:117098969C>G ENST00000320934.3 - 4 1196 c.566G>C c.(565-567)gGa>gCa p.G189A NM_004716.2 NP_004707.2 Q16549 PCSK7_HUMAN proprotein convertase subtilisin/kexin type 7 189 Catalytic. peptide hormone processing integral to Golgi membrane serine-type endopeptidase activity NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1) 16 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537) GTGTTCCACTCCGTCATCCAC 0.587000 T IGH@ MLCLS 3 9 0 0 1 0 0 ASCC3 10973 broad.mit.edu 37 6 101296316 101296316 + Nonsense_Mutation SNP G G T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr6:101296316G>T ENST00000369162.2 - 4 853 c.509C>A c.(508-510)tCa>tAa p.S170* ASCC3_ENST00000522650.1_Nonsense_Mutation_p.S170* NM_006828.2 NP_006819.2 Q8N3C0 HELC1_HUMAN activating signal cointegrator 1 complex subunit 3 170 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 92 all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199) CATGTCAAATGAAAATGCTAA 0.328000 6 70 5.9392e-07 6.06202e-07 1 1 0 DHRS3 9249 broad.mit.edu 37 1 12640692 12640692 + Silent SNP A A G TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr1:12640692A>G ENST00000376223.2 - 2 581 c.198T>C c.(196-198)atT>atC p.I66I DHRS3_ENST00000482265.1_5'UTR NM_004753.4 NP_004744.2 O75911 DHRS3_HUMAN dehydrogenase/reductase (SDR family) member 3 66 retinol metabolic process|visual perception integral to membrane electron carrier activity|NADP-retinol dehydrogenase activity|nucleotide binding cervix(1)|large_intestine(4)|lung(2)|prostate(1)|skin(1) 9 Ovarian(185;0.249) Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419) Vitamin A(DB00162) CCCAGAGAACAATCTGGAAGA 0.468000 12 46 0 0 1 0 0 TRIM38 10475 broad.mit.edu 37 6 25973483 25973483 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr6:25973483G>A ENST00000357085.3 + 7 1320 c.844G>A c.(844-846)Gat>Aat p.D282N TRIM38_ENST00000349458.3_Missense_Mutation_p.D282N NM_006355.3 NP_006346.1 O00635 TRI38_HUMAN tripartite motif containing 38 282 B30.2/SPRY. positive regulation of I-kappaB kinase/NF-kappaB cascade intracellular signal transducer activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2) 23 GCTTTACTTCGATGTGAAGAA 0.428000 22 5 0 0 1 0 0 SLC39A12 221074 broad.mit.edu 37 10 18254554 18254554 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr10:18254554C>T ENST00000377369.2 + 4 959 c.686C>T c.(685-687)tCc>tTc p.S229F SLC39A12_ENST00000377371.3_Missense_Mutation_p.S229F|SLC39A12_ENST00000377374.4_Missense_Mutation_p.S229F|SLC39A12_ENST00000539911.1_Missense_Mutation_p.S95F NM_001145195.1|NM_001282733.1|NM_001282734.1 NP_001138667.1|NP_001269662.1|NP_001269663.1 Q504Y0 S39AC_HUMAN solute carrier family 39 (zinc transporter), member 12 229 zinc ion transport integral to membrane metal ion transmembrane transporter activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 AACTTGCCTTCCCCAGACTAC 0.438000 10 35 0 0 1 0 0 MAFB 9935 broad.mit.edu 37 20 39316747 39316747 + Missense_Mutation SNP G G C TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr20:39316747G>C ENST00000373313.2 - 1 1133 c.744C>G c.(742-744)aaC>aaG p.N248K MAFB_ENST00000396967.1_Missense_Mutation_p.N248K NM_005461.3 NP_005452.2 Q9Y5Q3 MAFB_HUMAN v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B 248 negative regulation of erythrocyte differentiation sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding kidney(1)|large_intestine(1) 2 Myeloproliferative disorder(115;0.00878) CGTAGCCCCGGTTCTTCAGGG 0.607000 T IGH@ MM 4 33 0 0 1 0 0 A2ML1 144568 broad.mit.edu 37 12 8988246 8988246 + Silent SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr12:8988246C>T ENST00000299698.7 + 6 807 c.627C>T c.(625-627)ttC>ttT p.F209F NM_001282424.1|NM_144670.4 NP_001269353.1|NP_653271 B3KVV6 B3KVV6_HUMAN alpha-2-macroglobulin-like 1 53 extracellular space endopeptidase inhibitor activity NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 80 TTGGTACTTTCAGTGTGGAGG 0.527000 6 24 0 0 1 0 0 RFC4 5984 broad.mit.edu 37 3 186507968 186507968 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr3:186507968G>A ENST00000392481.2 - 10 1240 c.959C>T c.(958-960)tCt>tTt p.S320F RFC4_ENST00000433496.1_Missense_Mutation_p.S293F|RFC4_ENST00000296273.2_Missense_Mutation_p.S320F NM_181573.2 NP_853551.1 P35249 RFC4_HUMAN replication factor C (activator 1) 4, 37kDa 320 cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|protein binding breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 all_cancers(143;2.92e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;7.41e-21) GBM - Glioblastoma multiforme(93;0.0739) CTGTTTATCAGATAAGTTATT 0.338000 22 35 0 0 1 0 0 EPX 8288 broad.mit.edu 37 17 56276500 56276500 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr17:56276500C>T ENST00000225371.5 + 8 1330 c.1220C>T c.(1219-1221)cCc>cTc p.P407L NM_000502.4 NP_000493.1 P11678 PERE_HUMAN eosinophil peroxidase 407 hydrogen peroxide catabolic process heme binding|peroxidase activity|protein binding breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 48 CGCCTGAATCCCCGGTGGAAT 0.582000 19 19 0 0 1 0 0 ZNF808 388558 broad.mit.edu 37 19 53057481 53057481 + Missense_Mutation SNP C C G TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr19:53057481C>G ENST00000359798.4 + 5 1492 c.1312C>G c.(1312-1314)Cag>Gag p.Q438E NM_001039886.3 NP_001034975.2 Q8N4W9 ZN808_HUMAN zinc finger protein 808 438 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(8)|kidney(3)|lung(12)|urinary_tract(1) 24 OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213) AGTTTTCAGTCAGAAATCAAC 0.378000 11 50 0 0 1 0 0 COL22A1 169044 broad.mit.edu 37 8 139890007 139890007 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr8:139890007C>T ENST00000303045.6 - 3 1090 c.644G>A c.(643-645)cGc>cAc p.R215H COL22A1_ENST00000435777.1_Missense_Mutation_p.R215H NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 215 cell adhesion collagen|cytoplasm structural molecule activity p.R215H(1) breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) ACAAAGACGGCGCCGCAGCTT 0.657000 HNSCC(7;0.00092) 5 32 0 0 1 0 0 PNMAL2 57469 broad.mit.edu 37 19 46998637 46998637 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr19:46998637C>T ENST00000599531.1 - 1 1118 c.86G>A c.(85-87)gGc>gAc p.G29D AC011484.1_ENST00000377652.3_3'UTR|PNMAL2_ENST00000377655.2_Missense_Mutation_p.G29D|PNMAL2_ENST00000594749.1_Intron NM_020709.1 NP_065760.1 Q9ULN7 PNML2_HUMAN paraneoplastic Ma antigen family-like 2 29 central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4) 8 Ovarian(192;0.00965)|all_neural(266;0.0459) OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427) ctgctccaggccctccgggat 0.662000 28 44 0 0 1 0 0 CRNKL1 51340 broad.mit.edu 37 20 20016868 20016868 + Missense_Mutation SNP C C G TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr20:20016868C>G ENST00000377340.2 - 15 2549 c.2518G>C c.(2518-2520)Gat>Cat p.D840H CRNKL1_ENST00000377327.4_Missense_Mutation_p.D828H|CRNKL1_ENST00000521379.1_5'UTR|CRNKL1_ENST00000536226.1_Missense_Mutation_p.D679H NM_001278628.1|NM_016652.4 NP_001265557.1|NP_057736.4 Q9BZJ0 CRNL1_HUMAN crooked neck pre-mRNA splicing factor 1 840 spliceosome assembly catalytic step 2 spliceosome|cytoplasm|nuclear speck RNA binding breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6) 45 ACGTCCTCATCTGGATGGTGC 0.423000 20 109 0 0 1 0 0 LIFR 3977 broad.mit.edu 37 5 38510788 38510788 + Missense_Mutation SNP G G C TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr5:38510788G>C ENST00000263409.4 - 7 931 c.769C>G c.(769-771)Caa>Gaa p.Q257E LIFR_ENST00000453190.2_Missense_Mutation_p.Q257E|LIFR_ENST00000503088.1_5'UTR NM_002310.5 NP_002301.1 P42702 LIFR_HUMAN leukemia inhibitory factor receptor alpha 257 positive regulation of cell proliferation extracellular region|integral to plasma membrane ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2) 78 all_lung(31;0.00021) ACTTTATCTTGAGGAAAAACC 0.328000 T PLAG1 salivary adenoma 25 52 0 0 1 0 0 ESYT3 83850 broad.mit.edu 37 3 138195328 138195328 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr3:138195328C>T ENST00000389567.4 + 22 2804 c.2618C>T c.(2617-2619)tCa>tTa p.S873L ESYT3_ENST00000460133.1_3'UTR NM_031913.3 NP_114119.2 A0FGR9 ESYT3_HUMAN extended synaptotagmin-like protein 3 873 integral to membrane|plasma membrane breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 25 AAGGGCTTTTCACAATGGTAA 0.348000 35 27 0 0 1 0 0 COG6 57511 broad.mit.edu 37 13 40239281 40239281 + Nonsense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr13:40239281C>T ENST00000416691.1 + 4 518 c.418C>T c.(418-420)Caa>Taa p.Q140* COG6_ENST00000455146.3_Nonsense_Mutation_p.Q140* NM_001145079.1 NP_001138551.1 Q9Y2V7 COG6_HUMAN component of oligomeric golgi complex 6 140 protein transport Golgi membrane|Golgi transport complex NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1) 13 Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367) all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168) CACTAAGCTTCAATCTGAAAG 0.264000 23 34 0 0 1 0 0 COL21A1 81578 broad.mit.edu 37 6 56044501 56044501 + Nonsense_Mutation SNP G G C TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr6:56044501G>C ENST00000244728.5 - 3 912 c.515C>G c.(514-516)tCa>tGa p.S172* COL21A1_ENST00000535941.1_Nonsense_Mutation_p.S172*|COL21A1_ENST00000370819.1_Nonsense_Mutation_p.S172* NM_030820.3 NP_110447.2 Q96P44 COLA1_HUMAN collagen, type XXI, alpha 1 172 VWFA. 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) TTCTGTTTCTGAACCAACACC 0.403000 9 26 0 0 1 0 0 FMN2 56776 broad.mit.edu 37 1 240494020 240494020 + Missense_Mutation SNP C C G TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr1:240494020C>G ENST00000319653.9 + 11 4785 c.4555C>G c.(4555-4557)Ctt>Gtt p.L1519V FMN2_ENST00000545751.1_Missense_Mutation_p.L115V NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 1519 FH2. 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 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) ATTAGACATTCTTCCAAAACT 0.418000 11 55 0 0 1 0 0 ZSCAN20 7579 broad.mit.edu 37 1 33957061 33957061 + Silent SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr1:33957061C>T ENST00000361328.3 + 6 1356 c.1203C>T c.(1201-1203)ttC>ttT p.F401F ZSCAN20_ENST00000373413.2_Silent_p.F347F NM_145238.3 NP_660281 P17040 ZSC20_HUMAN zinc finger and SCAN domain containing 20 401 viral reproduction mitochondrion|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1) 31 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) CCTGCCCCTTCTATGAGGAGC 0.602000 17 31 0 0 1 0 0 TADA3 10474 broad.mit.edu 37 3 9822172 9822172 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr3:9822172C>T ENST00000301964.2 - 9 1726 c.1168G>A c.(1168-1170)Gag>Aag p.E390K TADA3_ENST00000440161.1_Missense_Mutation_p.E390K NM_006354.2 NP_006345.1 O75528 TADA3_HUMAN transcriptional adaptor 3 390 estrogen receptor signaling pathway|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex ligand-dependent nuclear receptor binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|skin(2)|upper_aerodigestive_tract(1) 16 TCCATGACCTCGTTGTCAGCC 0.632000 3 14 0 0 1 0 0 PADI1 29943 broad.mit.edu 37 1 17555289 17555289 + Silent SNP G G T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr1:17555289G>T ENST00000375471.4 + 7 914 c.822G>T c.(820-822)ccG>ccT p.P274P NM_013358.2 NP_037490.2 Q9ULC6 PADI1_HUMAN peptidyl arginine deiminase, type I 274 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity p.P274P(1) haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1) 28 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197) L-Citrulline(DB00155) TGGTGGACCCGGGGGTGTGTA 0.657000 10 73 0.000978159 0.000983854 1 1 0 DLX1 1745 broad.mit.edu 37 2 172951431 172951431 + Silent SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr2:172951431C>T ENST00000361725.4 + 2 815 c.363C>T c.(361-363)ttC>ttT p.F121F DLX1_ENST00000341900.6_Intron NM_178120.4 NP_835221.2 P56177 DLX1_HUMAN distal-less homeobox 1 121 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|lung(4)|prostate(1) 6 OV - Ovarian serous cystadenocarcinoma(117;0.216) AAGTGCGCTTCAATGGCAAGG 0.547000 67 40 0 0 1 0 0 SSPO 23145 broad.mit.edu 37 7 149492424 149492424 + RNA SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr7:149492424C>T ENST00000378016.2 + 0 6313 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) GCCCAGCCCTCAGGGATGGCA 0.667000 5 13 0 0 1 0 0 CAPN13 92291 broad.mit.edu 37 2 30955316 30955316 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr2:30955316C>T ENST00000295055.8 - 20 2091 c.1915G>A c.(1915-1917)Gaa>Aaa p.E639K CAPN13_ENST00000534090.2_Missense_Mutation_p.E639K NM_144575.2 NP_653176.2 Q6MZZ7 CAN13_HUMAN calpain 13 639 EF-hand 2. proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1) 30 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155) GCCATGGCTTCAAGCCGCATC 0.617000 7 26 0 0 1 0 0 NINJ1 4814 broad.mit.edu 37 9 95887273 95887273 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr9:95887273C>T ENST00000375446.4 - 3 446 c.376G>A c.(376-378)Gtg>Atg p.V126M NINJ1_ENST00000489274.1_5'UTR NM_004148.3 NP_004139.2 Q92982 NINJ1_HUMAN ninjurin 1 126 cell adhesion|nervous system development|tissue regeneration integral to membrane kidney(1)|large_intestine(2)|upper_aerodigestive_tract(1) 4 ATGATGAACACCAGGCCCGTG 0.587000 30 4 0 0 1 0 0 SLC9C2 284525 broad.mit.edu 37 1 173570901 173570901 + Missense_Mutation SNP G G T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr1:173570901G>T ENST00000367714.3 - 2 437 c.15C>A c.(13-15)ttC>ttA p.F5L SLC9C2_ENST00000536496.1_Intron|RP3-436N22.3_ENST00000431459.1_RNA NM_178527.3 NP_848622.2 Q5TAH2 S9A11_HUMAN solute carrier family 9, member C2 (putative) 5 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity TTTGTGCCCAGAAGTAAGAAC 0.418000 19 264 6.21321e-17 6.53475e-17 1 1 0 GFOD1 54438 broad.mit.edu 37 6 13365752 13365752 + Silent SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr6:13365752C>T ENST00000379287.3 - 2 1060 c.396G>A c.(394-396)aaG>aaA p.K132K GFOD1_ENST00000379284.1_Silent_p.K29K NM_018988.3 NP_061861.1 Q9NXC2 GFOD1_HUMAN glucose-fructose oxidoreductase domain containing 1 132 extracellular region binding|oxidoreductase activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2) 18 Breast(50;0.0296)|Ovarian(93;0.0454) all_hematologic(90;0.135) Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108) CGATCAGCTGCTTCATGCGCA 0.637000 19 57 0 0 1 0 0 TSR3 115939 broad.mit.edu 37 16 1400929 1400929 + Silent SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr16:1400929C>T ENST00000007390.2 - 3 511 c.405G>A c.(403-405)ggG>ggA p.G135G NM_001001410.2 NP_001001410.1 TSR3, 20S rRNA accumulation, homolog (S. cerevisiae) CTCGCATCTTCCCAAACGGTG 0.627000 22 9 0 0 1 0 0 DDX17 10521 broad.mit.edu 37 22 38890650 38890650 + Missense_Mutation SNP C C G TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr22:38890650C>G ENST00000396821.3 - 8 1298 c.1199G>C c.(1198-1200)aGt>aCt p.S400T DDX17_ENST00000381633.3_Missense_Mutation_p.S321T|DDX17_ENST00000432525.1_5'UTR NM_001098504.1|NM_006386.4 NP_001091974|NP_006377.2 Q92841 DDX17_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 17 321 Helicase C-terminal. RNA processing nucleus ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 25 Melanoma(58;0.0286) GTCTTTTTCACTTTCCATGCA 0.393000 8 53 0 0 1 0 0 TAZ 6901 broad.mit.edu 37 X 153640475 153640475 + Silent SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chrX:153640475C>T ENST00000299328.5 + 2 451 c.162C>T c.(160-162)atC>atT p.I54I TAZ_ENST00000369776.4_Intron|TAZ_ENST00000350743.4_Silent_p.I54I|TAZ_ENST00000351413.4_Silent_p.I54I|TAZ_ENST00000475699.1_Silent_p.I54I|TAZ_ENST00000369790.4_Silent_p.I54I NM_000116.3 NP_000107.1 Q16635 TAZ_HUMAN tafazzin 54 cardiac muscle contraction|cardiac muscle tissue development|cardiolipin biosynthetic process|cristae formation|hemopoiesis|mitochondrial ATP synthesis coupled electron transport|mitochondrial respiratory chain complex I assembly|skeletal muscle tissue development integral to membrane|mitochondrion 1-acylglycerophosphocholine O-acyltransferase activity lung(1) 1 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) ACGAGCTCATCGAGAAGCGAG 0.652000 OREG0003602 type=REGULATORY REGION|Gene=DNASE1L1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 8 8 0 0 1 0 0 KMT2C 58508 broad.mit.edu 37 7 151864437 151864437 + Missense_Mutation SNP C C G TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr7:151864437C>G ENST00000355193.2 - 42 9762 c.9544G>C c.(9544-9546)Gag>Cag p.E3182Q KMT2C_ENST00000262189.6_Missense_Mutation_p.E3182Q lysine (K)-specific methyltransferase 2C TGGAGCCACTCTTCATACTGC 0.368000 8 81 0 0 1 0 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 3 32 0 0 1 0 0 AOC3 8639 broad.mit.edu 37 17 41003700 41003700 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr17:41003700G>A ENST00000308423.2 + 1 500 c.340G>A c.(340-342)Gac>Aac p.D114N NM_003734.2 NP_003725.1 Q16853 AOC3_HUMAN amine oxidase, copper containing 3 114 amine metabolic process|cell adhesion|inflammatory response cell surface|integral to membrane|plasma membrane aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8) 41 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.156) Hydralazine(DB01275)|Phenelzine(DB00780) GGCTCACTTGGACAGGGGGAG 0.677000 11 25 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 62039329 62039329 + Silent SNP T T A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr10:62039329T>A ENST00000280772.2 - 2 374 c.183A>T c.(181-183)atA>atT p.I61I ANK3_ENST00000503366.1_Silent_p.I44I|ANK3_ENST00000373827.2_Silent_p.I55I NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) 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 CTCCATTTTTTATGTAGTCGA 0.338000 71 54 0 0 1 0 0 WNT10B 7480 broad.mit.edu 37 12 49361757 49361757 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr12:49361757C>T ENST00000301061.4 - 4 1031 c.683G>A c.(682-684)cGa>cAa p.R228Q WNT10B_ENST00000403957.1_Missense_Mutation_p.E163K|WNT10B_ENST00000407467.1_Missense_Mutation_p.E181K NM_003394.3 NP_003385.2 O00744 WN10B_HUMAN wingless-type MMTV integration site family, member 10B 228 axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix G-protein-coupled receptor binding|signal transducer activity central_nervous_system(1)|large_intestine(5)|lung(12)|prostate(1)|skin(4) 23 GTTGTGGATTCGCATTCGTGC 0.537000 9 24 0 0 1 0 0 LIMS1 3987 broad.mit.edu 37 2 109300445 109300445 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr2:109300445G>A ENST00000393310.1 + 10 1135 c.968G>A c.(967-969)gGa>gAa p.G323E LIMS1_ENST00000332345.6_Missense_Mutation_p.G323E|LIMS1_ENST00000542845.1_Missense_Mutation_p.G385E|LIMS1_ENST00000409441.1_Missense_Mutation_p.G360E|LIMS1_ENST00000338045.3_Missense_Mutation_p.G323E|LIMS1_ENST00000544547.1_Missense_Mutation_p.G335E|LIMS1_ENST00000410093.1_Missense_Mutation_p.G327E NM_001193488.1 NP_001180417.1 P48059 LIMS1_HUMAN LIM and senescent cell antigen-like domains 1 323 cell aging|cell junction assembly|cellular response to transforming growth factor beta stimulus|negative regulation of transcription, DNA-dependent cytosol|focal adhesion|perinuclear region of cytoplasm protein binding|zinc ion binding breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4) 10 GAGACCTTAGGAAGGAAATAA 0.343000 9 57 0 0 1 0 0 DAPK1 1612 broad.mit.edu 37 9 90272965 90272965 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr9:90272965C>T ENST00000469640.2 + 18 2221 c.1846C>T c.(1846-1848)Ctt>Ttt p.L616F DAPK1_ENST00000358077.5_Missense_Mutation_p.L616F|DAPK1_ENST00000472284.1_Missense_Mutation_p.L616F|DAPK1_ENST00000408954.3_Missense_Mutation_p.L616F|DAPK1_ENST00000466188.1_3'UTR|DAPK1_ENST00000491893.1_Missense_Mutation_p.L616F P53355 DAPK1_HUMAN death-associated protein kinase 1 616 apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade actin cytoskeleton|cytoplasm ATP binding|calmodulin binding|protein serine/threonine kinase activity breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1) 72 GCCTCTGCACCTTGCGGCCAA 0.562000 Chronic Lymphocytic Leukemia, Familial Clustering of 5 1 0 0 1 0 0 KRTAP5-7 440050 broad.mit.edu 37 11 71238645 71238645 + Missense_Mutation SNP C C A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr11:71238645C>A ENST00000398536.4 + 1 333 c.299C>A c.(298-300)cCc>cAc p.P100H NM_001012503.1 NP_001012521.1 Q6L8G8 KRA57_HUMAN keratin associated protein 5-7 100 7 X 4 AA repeats of C-C-X-P. keratin filament breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1) 12 tgctataagccctgctgctgc 0.632000 4 109 9.05144e-12 9.40533e-12 1 1 0 PKHD1 5314 broad.mit.edu 37 6 51497405 51497405 + Missense_Mutation SNP T T G TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr6:51497405T>G ENST00000371117.3 - 65 11898 c.11623A>C c.(11623-11625)Agc>Cgc p.S3875R NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 3875 cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) ACCAGACAGCTCAGAGCCAGC 0.433000 4 58 0 0 1 0 0 EGFLAM 133584 broad.mit.edu 37 5 38448409 38448409 + Translation_Start_Site SNP T T G TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr5:38448409T>G ENST00000506135.1 + 0 139 EGFLAM_ENST00000397210.3_De_novo_Start_InFrame|EGFLAM_ENST00000397202.2_Missense_Mutation_p.I190R|EGFLAM_ENST00000514476.1_De_novo_Start_InFrame|EGFLAM_ENST00000354891.3_Missense_Mutation_p.I832R|EGFLAM_ENST00000322350.5_Missense_Mutation_p.I824R|EGFLAM_ENST00000336740.6_Missense_Mutation_p.I590R Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G domains cell junction|proteinaceous extracellular matrix|synapse NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 85 all_lung(31;0.000385) CCAGCGATCATAGAAGCCATT 0.483000 48 104 0 0 1 0 0 SF3B2 10992 broad.mit.edu 37 11 65826374 65826374 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr11:65826374C>T ENST00000528302.1 + 9 1043 c.989C>T c.(988-990)tCt>tTt p.S330F SF3B2_ENST00000322535.6_Missense_Mutation_p.S347F Q13435 SF3B2_HUMAN splicing factor 3b, subunit 2, 145kDa 347 interspecies interaction between organisms catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex nucleic acid binding|protein binding breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 41 TCTGAGAGCTCTGGGGACCGG 0.537000 16 113 0 0 1 0 0 GOLGA2 2801 broad.mit.edu 37 9 131019783 131019783 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr9:131019783C>T ENST00000421699.2 - 25 2671 c.2659G>A c.(2659-2661)Gag>Aag p.E887K GOLGA2_ENST00000609374.1_Missense_Mutation_p.E875K NM_004486.4 NP_004477.3 Q08379 GOGA2_HUMAN golgin A2 887 Golgi cisterna membrane protein binding p.E875*(1) NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 34 AAGACCAGCTCCTGCAGCTCC 0.642000 4 11 0 0 1 0 0 WFS1 7466 broad.mit.edu 37 4 6303483 6303483 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr4:6303483C>T ENST00000226760.1 + 8 2131 c.1961C>T c.(1960-1962)tCa>tTa p.S654L WFS1_ENST00000503569.1_Missense_Mutation_p.S654L NM_001145853.1|NM_006005.3 NP_001139325.1|NP_005996.2 O76024 WFS1_HUMAN Wolfram syndrome 1 (wolframin) 654 endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception dendrite|integral to endoplasmic reticulum membrane activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 21 Colorectal(103;0.0512) GTGTACCGCTCAGAGGGCATG 0.612000 37 163 0 0 1 0 0 SF3A1 10291 broad.mit.edu 37 22 30742444 30742444 + Missense_Mutation SNP G G C TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr22:30742444G>C ENST00000215793.8 - 3 404 c.250C>G c.(250-252)Ctg>Gtg p.L84V SF3A1_ENST00000439242.1_Missense_Mutation_p.L84V NM_005877.4 NP_005868.1 Q15459 SF3A1_HUMAN splicing factor 3a, subunit 1, 120kDa nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex protein binding|RNA binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1) 29 TTGGGGTTCAGAAAGTTGAAC 0.507000 41 48 0 0 1 0 0 CCPG1 9236 broad.mit.edu 37 15 55652856 55652856 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr15:55652856C>T ENST00000310958.6 - 8 1413 c.1115G>A c.(1114-1116)aGg>aAg p.R372K CCPG1_ENST00000442196.3_Missense_Mutation_p.R372K|CCPG1_ENST00000425574.3_Intron|DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000569205.1_Missense_Mutation_p.R372K NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3 NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2 Q9ULG6 CCPG1_HUMAN cell cycle progression 1 372 cell cycle integral to membrane autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3) 30 all cancers(107;0.0354) CAGAGTCTCCCTTTGACTAAG 0.403000 16 43 0 0 1 0 0 ZNF644 84146 broad.mit.edu 37 1 91405315 91405315 + Silent SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr1:91405315G>A ENST00000370440.1 - 3 1813 c.1596C>T c.(1594-1596)ttC>ttT p.F532F ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000337393.5_Silent_p.F532F Q9H582 ZN644_HUMAN zinc finger protein 644 532 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101) all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173) TCACTGCCATGAAGTTACACT 0.418000 31 64 0 0 1 0 0 TMEM150A 129303 broad.mit.edu 37 2 85826217 85826217 + Silent SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr2:85826217C>T ENST00000409668.1 - 7 1265 c.798G>A c.(796-798)gaG>gaA p.E266E TMEM150A_ENST00000334462.5_Silent_p.E266E|TMEM150A_ENST00000306353.3_Silent_p.E213E Q86TG1 T150A_HUMAN transmembrane protein 150A 266 integral to membrane|plasma membrane breast(1)|endometrium(2)|kidney(2)|lung(1)|skin(1) 7 TAGCGATGCTCTCGGGGGCAC 0.597000 18 50 0 0 1 0 0 DLX3 1747 broad.mit.edu 37 17 48072263 48072263 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr17:48072263C>T ENST00000434704.2 - 1 325 c.100G>A c.(100-102)Gag>Aag p.E34K NM_005220.2 NP_005211.1 O60479 DLX3_HUMAN distal-less homeobox 3 34 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 12 ACAGAAGACTCGGGCAGGGTA 0.607000 17 33 0 0 1 0 0 FLNA 2316 broad.mit.edu 37 X 153587899 153587899 + Silent SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chrX:153587899G>A ENST00000422373.1 - 24 4343 c.4095C>T c.(4093-4095)atC>atT p.I1365I FLNA_ENST00000360319.4_Silent_p.I1365I|FLNA_ENST00000344736.4_Silent_p.I1365I|FLNA_ENST00000369850.3_Silent_p.I1365I NM_001456.3 NP_001447.2 P21333 FLNA_HUMAN filamin A, alpha 1365 actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TGCCACTTTGGATGCCTGGCC 0.667000 48 80 0 0 1 0 0 CEP76 79959 broad.mit.edu 37 18 12680761 12680761 + Missense_Mutation SNP C C G TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr18:12680761C>G ENST00000262127.2 - 9 1414 c.1189G>C c.(1189-1191)Gtt>Ctt p.V397L PSMG2_ENST00000589405.1_Intron|PSMG2_ENST00000585331.2_Intron|CEP76_ENST00000423709.2_Missense_Mutation_p.V322L NM_024899.2 NP_079175.2 Q8TAP6 CEP76_HUMAN centrosomal protein 76kDa 397 G2/M transition of mitotic cell cycle|regulation of centriole replication centriole|cytosol protein binding endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 CCAACACAAACAAAGGCTTCT 0.428000 18 120 0 0 1 0 0 PRKACA 5566 broad.mit.edu 37 19 14208666 14208666 + Silent SNP G G C TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr19:14208666G>C ENST00000308677.4 - 6 652 c.456C>G c.(454-456)gtC>gtG p.V152V PRKACA_ENST00000590853.1_Intron|PRKACA_ENST00000350356.3_5'UTR|PRKACA_ENST00000589994.1_Silent_p.V144V NM_002730.3 NP_002721.1 P17612 KAPCA_HUMAN protein kinase, cAMP-dependent, catalytic, alpha 152 Protein kinase. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|regulation of insulin secretion|transmembrane transport|triglyceride catabolic process|water transport cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane ATP binding|cAMP-dependent protein kinase activity|cAMP-dependent protein kinase inhibitor activity|protein kinase binding central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1) 16 CAAAGGTCAGGACGATCTGGG 0.572000 8 29 0 0 1 0 0 TTC23L 153657 broad.mit.edu 37 5 34867123 34867123 + Silent SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr5:34867123G>A ENST00000505624.1 + 7 892 c.789G>A c.(787-789)caG>caA p.Q263Q TTC23L_ENST00000514080.1_3'UTR NM_144725.3 NP_653326.3 Q6PF05 TT23L_HUMAN tetratricopeptide repeat domain 23-like 263 binding p.Q263Q(1) breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(9)|prostate(2)|stomach(1)|urinary_tract(1) 22 AAGCTGCTCAGATAGAGCAGC 0.547000 4 10 0 0 1 0 0 HDAC7 51564 broad.mit.edu 37 12 48179640 48179640 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr12:48179640C>T ENST00000080059.7 - 23 2600 c.2601G>A c.(2599-2601)atG>atA p.M867I HDAC7_ENST00000380610.4_Missense_Mutation_p.M884I|HDAC7_ENST00000552960.1_Missense_Mutation_p.M850I|HDAC7_ENST00000354334.3_Missense_Mutation_p.M830I|AC004466.1_ENST00000599515.1_3'UTR|HDAC7_ENST00000427332.2_Missense_Mutation_p.M828I NM_015401.3 NP_056216.2 Q8WUI4 HDAC7_HUMAN histone deacetylase 7 828 negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent cytoplasm|histone deacetylase complex activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 GBM - Glioblastoma multiforme(48;0.137) CTGCCAGGTTCATCAGTTGCT 0.597000 8 4 0 0 1 0 0 ANKS1B 56899 broad.mit.edu 37 12 99192766 99192766 + Silent SNP C C G TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr12:99192766C>G ENST00000547776.2 - 21 3212 c.3213G>C c.(3211-3213)ctG>ctC p.L1071L ANKS1B_ENST00000549493.2_Silent_p.L321L|ANKS1B_ENST00000549558.2_Silent_p.L237L|ANKS1B_ENST00000547446.1_Silent_p.L206L|ANKS1B_ENST00000549025.2_Silent_p.L169L|ANKS1B_ENST00000341752.7_Silent_p.L77L|ANKS1B_ENST00000332712.7_Silent_p.L261L|ANKS1B_ENST00000333732.7_Silent_p.L101L|ANKS1B_ENST00000546960.1_Silent_p.L297L|ANKS1B_ENST00000550693.2_Silent_p.L261L|ANKS1B_ENST00000546568.1_Silent_p.L237L|ANKS1B_ENST00000547010.1_Silent_p.L587L|ANKS1B_ENST00000329257.7_Silent_p.L1071L NM_152788.4 NP_690001.3 Q7Z6G8 ANS1B_HUMAN ankyrin repeat and sterile alpha motif domain containing 1B 1071 PID. Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1) 70 all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209) OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06) GCTCTTTTATCAGCATAGAAC 0.299000 4 27 0 0 1 0 0 SIM1 6492 broad.mit.edu 37 6 100838770 100838770 + Missense_Mutation SNP C C G TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr6:100838770C>G ENST00000369208.3 - 12 2550 c.1768G>C c.(1768-1770)Gac>Cac p.D590H SIM1_ENST00000262901.4_Missense_Mutation_p.D590H P81133 SIM1_HUMAN single-minded family bHLH transcription factor 1 590 Single-minded C-terminal. 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) GCCAGTTGGTCTGAGGGGGCT 0.468000 5 45 0 0 1 0 0 PLEKHO2 80301 broad.mit.edu 37 15 65157389 65157389 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr15:65157389G>A ENST00000323544.4 + 6 903 c.775G>A c.(775-777)Gag>Aag p.E259K AC069368.3_ENST00000437723.1_Intron NM_001195059.1|NM_025201.4 NP_001181988.1|NP_079477.2 Q8TD55 PKHO2_HUMAN pleckstrin homology domain containing, family O member 2 259 Pro-rich. NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 25 CAGTGGCTCTGAGCAGCCTCC 0.632000 18 27 0 0 1 0 0 MET 4233 broad.mit.edu 37 7 116340296 116340296 + Silent SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr7:116340296C>T ENST00000397752.3 + 2 1358 c.1158C>T c.(1156-1158)ctC>ctT p.L386L MET_ENST00000318493.6_Silent_p.L386L|MET_ENST00000436117.2_Silent_p.L386L NM_000245.2|NM_001127500.1 NP_000236.2|NP_001120972.1 P08581 MET_HUMAN met proto-oncogene 386 Sema. axon guidance|cell proliferation basal plasma membrane|integral to plasma membrane ATP binding|hepatocyte growth factor receptor activity|protein binding NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3) 233 all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125) Ovarian(593;0.133) GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512) TGAGATGTCTCCAGCATTTTT 0.398000 Mis """papillary renal, head-neck squamous cell """ papillary renal Hereditary Papillary Renal Carcinoma (type 1) 51 54 0 0 1 0 0 CORO2A 7464 broad.mit.edu 37 9 100895394 100895394 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr9:100895394C>T ENST00000343933.5 - 5 831 c.574G>A c.(574-576)Ggc>Agc p.G192S CORO2A_ENST00000375077.4_Missense_Mutation_p.G192S NM_003389.3 NP_003380.3 Q92828 COR2A_HUMAN coronin, actin binding protein, 2A 192 actin cytoskeleton organization|intracellular signal transduction actin cytoskeleton|transcriptional repressor complex actin filament binding endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1) 26 Acute lymphoblastic leukemia(62;0.0559) AACAGGCTGCCGTTGGTGTTG 0.562000 22 30 0 0 1 0 0 ZKSCAN7 55888 broad.mit.edu 37 3 44598938 44598938 + Missense_Mutation SNP G G C TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr3:44598938G>C ENST00000273320.3 + 2 828 c.399G>C c.(397-399)caG>caC p.Q133H RP11-944L7.4_ENST00000457331.1_RNA|ZKSCAN7_ENST00000426540.1_Missense_Mutation_p.Q133H|ZKSCAN7_ENST00000431636.1_Missense_Mutation_p.Q133H|ZKSCAN7_ENST00000341840.3_Missense_Mutation_p.Q133H NM_018651.2 NP_061121.2 zinc finger with KRAB and SCAN domains 7 AGGATTTCCAGAGACACCTCA 0.567000 10 31 0 0 1 0 0 OAT 4942 broad.mit.edu 37 10 126090300 126090300 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr10:126090300G>A ENST00000368845.5 - 8 1101 c.1009C>T c.(1009-1011)Ctt>Ttt p.L337F OAT_ENST00000539214.1_Missense_Mutation_p.L199F|OAT_ENST00000467675.1_5'UTR NM_000274.3 NP_000265.1 P04181 OAT_HUMAN ornithine aminotransferase 337 cellular amino acid biosynthetic process|visual perception mitochondrial matrix ornithine-oxo-acid transaminase activity|protein binding|pyridoxal phosphate binding endometrium(2)|large_intestine(1)|lung(2) 5 all_lung(145;0.0271)|Lung NSC(174;0.0436)|Colorectal(57;0.102)|all_neural(114;0.116) L-Ornithine(DB00129)|Pyridoxal Phosphate(DB00114) TTTACCTCAAGGGCTGCGATG 0.448000 3 14 0 0 1 0 0 ARID2 196528 broad.mit.edu 37 12 46125033 46125033 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr12:46125033G>A ENST00000334344.6 + 3 392 c.220G>A c.(220-222)Gaa>Aaa p.E74K ARID2_ENST00000422737.1_5'UTR NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 74 ARID. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding p.E74*(1) NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) AGAAATTGTTGAAGAGTTCAA 0.373000 """N, S, F""" hepatocellular carcinoma 8 68 0 0 1 0 0 GIMAP8 155038 broad.mit.edu 37 7 150164122 150164122 + Missense_Mutation SNP A A C TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr7:150164122A>C ENST00000307271.3 + 2 910 c.336A>C c.(334-336)gaA>gaC p.E112D NM_175571.2 NP_783161.1 Q8ND71 GIMA8_HUMAN GTPase, IMAP family member 8 112 endoplasmic reticulum|Golgi apparatus|mitochondrion GTP binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) AGGATGAGGAAACAGCCAAGG 0.517000 25 26 0 0 1 0 0 EPN2 22905 broad.mit.edu 37 17 19187004 19187004 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr17:19187004G>A ENST00000314728.5 + 3 1056 c.572G>A c.(571-573)gGc>gAc p.G191D EPN2_ENST00000395626.1_Missense_Mutation_p.G191D|EPN2_ENST00000347697.2_Missense_Mutation_p.G191D|EPN2_ENST00000575595.1_Intron|EPN2_ENST00000571254.1_Missense_Mutation_p.G191D|EPN2_ENST00000395618.3_Intron|EPN2_ENST00000395620.2_Missense_Mutation_p.G191D NM_014964.4 NP_055779.2 O95208 EPN2_HUMAN epsin 2 191 endocytosis lipid binding breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1) 19 all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143) AAGGCCGGGGGCTCCCCGGCC 0.632000 6 12 0 0 1 0 0 NAA25 80018 broad.mit.edu 37 12 112492301 112492301 + Missense_Mutation SNP G G C TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr12:112492301G>C ENST00000261745.4 - 14 1767 c.1519C>G c.(1519-1521)Cag>Gag p.Q507E NM_024953.3 NP_079229.2 Q14CX7 NAA25_HUMAN N(alpha)-acetyltransferase 25, NatB auxiliary subunit 507 cytoplasm protein binding autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 46 AATTTGAACTGAGCATTGGAA 0.473000 14 38 0 0 1 0 0 OAS2 4939 broad.mit.edu 37 12 113448240 113448240 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr12:113448240C>T ENST00000342315.4 + 11 2325 c.2111C>T c.(2110-2112)tCa>tTa p.S704L RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000392583.2_3'UTR NM_016817.2 NP_058197.2 P29728 OAS2_HUMAN 2'-5'-oligoadenylate synthetase 2, 69/71kDa 704 interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus ATP binding|nucleotidyltransferase activity|RNA binding NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28 GAGATGTTCTCATCCAGAAGC 0.408000 72 134 0 0 1 0 0 OBSL1 23363 broad.mit.edu 37 2 220432962 220432962 + Missense_Mutation SNP T T C TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr2:220432962T>C ENST00000404537.1 - 2 1153 c.1097A>G c.(1096-1098)aAc>aGc p.N366S OBSL1_ENST00000373876.1_Missense_Mutation_p.N366S|OBSL1_ENST00000289656.3_5'UTR|OBSL1_ENST00000373873.4_Missense_Mutation_p.N366S|OBSL1_ENST00000603926.1_Missense_Mutation_p.N366S|OBSL1_ENST00000265318.4_Missense_Mutation_p.N366S NM_015311.2 NP_056126.1 O75147 OBSL1_HUMAN obscurin-like 1 366 Ig-like 4. cardiac myofibril assembly intercalated disc|M band|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity Renal(207;0.0376) Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834) GATGCGGGAGTTGGGTACTTT 0.657000 OREG0003988 type=REGULATORY REGION|Gene=OBSL1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 5 26 0 0 1 0 0 MAN1A2 10905 broad.mit.edu 37 1 117944851 117944851 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr1:117944851G>A ENST00000356554.3 + 2 1081 c.346G>A c.(346-348)Gag>Aag p.E116K MAN1A2_ENST00000482811.1_Intron NM_006699.3 NP_006690.1 O60476 MA1A2_HUMAN mannosidase, alpha, class 1A, member 2 116 N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane|membrane fraction calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1) 27 Lung SC(450;0.225) all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05) Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243) AGCTGATCATGAGAAGGCCTT 0.368000 14 60 0 0 1 0 0 FCHO1 23149 broad.mit.edu 37 19 17892626 17892626 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr19:17892626C>T ENST00000594202.1 + 23 2213 c.1934C>T c.(1933-1935)cCc>cTc p.P645L FCHO1_ENST00000389133.4_Missense_Mutation_p.P645L|FCHO1_ENST00000600676.1_Missense_Mutation_p.P645L|FCHO1_ENST00000596536.1_Missense_Mutation_p.P645L|FCHO1_ENST00000539407.1_Missense_Mutation_p.P645L|FCHO1_ENST00000595033.1_Missense_Mutation_p.P595L|FCHO1_ENST00000596951.1_Missense_Mutation_p.P645L|FCHO1_ENST00000252771.7_Missense_Mutation_p.P645L|FCHO1_ENST00000597512.1_Missense_Mutation_p.P652L NM_001161357.1 NP_001154829.1 O14526 FCHO1_HUMAN FCH domain only 1 645 NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12) 22 GGCCACAGCCCCAGGTACCCA 0.612000 13 37 0 0 1 0 0 CELSR1 9620 broad.mit.edu 37 22 46859643 46859643 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr22:46859643C>T ENST00000262738.3 - 2 4143 c.4144G>A c.(4144-4146)Gag>Aag p.E1382K CELSR1_ENST00000395964.1_Missense_Mutation_p.E1382K NM_014246.1 NP_055061.1 Q9NYQ6 CELR1_HUMAN cadherin, EGF LAG seven-pass G-type receptor 1 1382 EGF-like 2; calcium-binding. central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) TAGCCGCCCTCGCGGCTGCGG 0.687000 3 9 0 0 1 0 0 WDR46 9277 broad.mit.edu 37 6 33256755 33256755 + Silent SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr6:33256755C>T ENST00000374617.4 - 2 461 c.105G>A c.(103-105)ccG>ccA p.P35P WDR46_ENST00000477718.1_5'UTR NM_001164267.1|NM_005452.5 NP_001157739.1|NP_005443.3 O15213 WDR46_HUMAN WD repeat domain 46 35 NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1) 20 CGGCTGTGGTCGGAACGGTCT 0.567000 36 49 0 0 1 0 0 CCDC178 374864 broad.mit.edu 37 18 30791990 30791990 + Missense_Mutation SNP C C G TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr18:30791990C>G ENST00000383096.3 - 20 2290 c.2108G>C c.(2107-2109)aGg>aCg p.R703T CCDC178_ENST00000300227.8_Missense_Mutation_p.R665T|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000403303.1_Missense_Mutation_p.R703T|CCDC178_ENST00000406524.2_Missense_Mutation_p.R703T|CCDC178_ENST00000402325.1_Missense_Mutation_p.R703T|CCDC178_ENST00000579947.1_Missense_Mutation_p.R703T|CCDC178_ENST00000583930.1_Missense_Mutation_p.R703T coiled-coil domain containing 178 TGCATGTTCCCTTTTAAATCT 0.323000 8 33 0 0 1 0 0 RBM42 79171 broad.mit.edu 37 19 36128344 36128344 + Splice_Site SNP G G C TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr19:36128344G>C ENST00000262633.4 + 10 1436 c.1331G>C c.(1330-1332)gGg>gCg p.G444A RBM42_ENST00000589559.1_Splice_Site_p.G350A|RBM42_ENST00000592202.1_Splice_Site_p.G390A|RBM42_ENST00000589871.1_Splice_Site_p.G422A|RBM42_ENST00000360475.4_Splice_Site_p.G415A|RBM42_ENST00000588161.1_Splice_Site_p.G414A|RBM42_ENST00000586618.1_Splice_Site_p.G148A NM_024321.3 NP_077297.2 Q9BTD8 RBM42_HUMAN RNA binding motif protein 42 444 Necessary for interaction with HNRNPK (By similarity).|RRM. cytoplasm|nucleus nucleotide binding|RNA binding breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1) 21 all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) GTCTCCACAGGGAAGTATGTG 0.607000 4 69 0 0 1 0 0 CRLF3 51379 broad.mit.edu 37 17 29123185 29123185 + Missense_Mutation SNP C C G TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr17:29123185C>G ENST00000324238.6 - 4 720 c.596G>C c.(595-597)tGg>tCg p.W199S CRLF3_ENST00000577725.1_Intron|CRLF3_ENST00000544695.1_Missense_Mutation_p.W83S NM_015986.3 NP_057070.3 Q8IUI8 CRLF3_HUMAN cytokine receptor-like factor 3 199 Fibronectin type-III. negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of cell cycle arrest|positive regulation of JAK-STAT cascade|positive regulation of transcription from RNA polymerase II promoter cytoplasm endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 17 all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255) TACCTTACACCATCGTACAAT 0.378000 76 68 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92533509 92533509 + Missense_Mutation SNP A A C TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr11:92533509A>C ENST00000298047.6 + 9 7347 c.7330A>C c.(7330-7332)Atg>Ctg p.M2444L FAT3_ENST00000525166.1_Missense_Mutation_p.M2294L|FAT3_ENST00000409404.2_Missense_Mutation_p.M2444L Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 2444 Cadherin 22. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) GAGCTTTCTGATGGACAGCAA 0.473000 TCGA Ovarian(4;0.039) 25 25 0 0 1 0 0 SCMH1 22955 broad.mit.edu 37 1 41494360 41494360 + Silent SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr1:41494360G>A ENST00000402904.2 - 15 2121 c.1753C>T c.(1753-1755)Ctg>Ttg p.L585L SCMH1_ENST00000337495.5_Silent_p.L573L|SCMH1_ENST00000372596.1_Silent_p.L502L|SCMH1_ENST00000372595.1_Silent_p.L524L|SCMH1_ENST00000472037.1_5'UTR|SCMH1_ENST00000397174.2_Silent_p.L543L|SCMH1_ENST00000361191.5_Silent_p.L502L|SCMH1_ENST00000397171.2_Silent_p.L502L|SCMH1_ENST00000361705.3_Silent_p.L516L|SCMH1_ENST00000456518.2_Silent_p.L405L|SCMH1_ENST00000326197.7_Silent_p.L585L|SCMH1_ENST00000372597.1_Silent_p.L516L NM_001031694.2 NP_001026864.1 Q96GD3 SCMH1_HUMAN sex comb on midleg homolog 1 (Drosophila) 585 anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1) 15 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162) Myeloproliferative disorder(586;0.0393) CGGCCACTCAGTCGAGAGGCA 0.602000 44 22 0 0 1 0 0 ZNF517 340385 broad.mit.edu 37 8 146033033 146033033 + Missense_Mutation SNP G G C TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr8:146033033G>C ENST00000359971.3 + 5 839 c.732G>C c.(730-732)caG>caC p.Q244H ZNF517_ENST00000526178.1_Intron|ZNF517_ENST00000525105.1_Intron|ZNF517_ENST00000531720.1_Missense_Mutation_p.Q244H NM_213605.2 NP_998770.2 Q6ZMY9 ZN517_HUMAN zinc finger protein 517 244 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|large_intestine(2)|lung(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055) CCTTCCGGCAGAGCACGCAGC 0.687000 6 11 0 0 1 0 0 PIK3CD 5293 broad.mit.edu 37 1 9782404 9782404 + Missense_Mutation SNP G G C TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr1:9782404G>C ENST00000536656.1 + 18 2617 c.2409G>C c.(2407-2409)aaG>aaC p.K803N PIK3CD_ENST00000377346.4_Missense_Mutation_p.K779N|PIK3CD_ENST00000361110.2_Missense_Mutation_p.K803N O00329 PK3CD_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta 779 PI3K/PI4K. phosphatidylinositol-mediated signaling|protein phosphorylation phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 31 all_lung(157;0.222) all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419) TCATCTTTAAGAACGGGGATG 0.622000 3 21 0 0 1 0 0 ZEB2 9839 broad.mit.edu 37 2 145154063 145154063 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr2:145154063C>T ENST00000558170.2 - 9 4167 c.2983G>A c.(2983-2985)Gag>Aag p.E995K ZEB2_ENST00000409487.3_Missense_Mutation_p.E995K|ZEB2_ENST00000539609.3_Missense_Mutation_p.E971K|ZEB2_ENST00000303660.4_Missense_Mutation_p.E995K NM_014795.3 NP_055610.1 O60315 ZEB2_HUMAN zinc finger E-box binding homeobox 2 995 cytoplasm|nucleolus phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 107 BRCA - Breast invasive adenocarcinoma(221;0.112) ATGCCACTCTCTGTCTTCTTG 0.453000 61 54 0 0 1 0 0 HSCB 150274 broad.mit.edu 37 22 29140641 29140641 + Silent SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr22:29140641G>A ENST00000216027.3 + 3 437 c.372G>A c.(370-372)gtG>gtA p.V124V HSCB_ENST00000398941.2_Silent_p.V124V|HSCB_ENST00000495977.1_3'UTR NM_172002.3 NP_741999.3 Q8IWL3 HSC20_HUMAN HscB mitochondrial iron-sulfur cluster co-chaperone 124 J. iron-sulfur cluster assembly|protein folding mitochondrion chaperone binding|heat shock protein binding|metal ion binding kidney(1)|lung(2)|skin(1) 4 CGACCCTGGTGAATGATGCCT 0.438000 13 31 0 0 1 0 0 EXOC2 55770 broad.mit.edu 37 6 532572 532572 + Silent SNP G G C rs148394306 TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr6:532572G>C ENST00000230449.4 - 23 2412 c.2277C>G c.(2275-2277)ctC>ctG p.L759L EXOC2_ENST00000448181.3_Silent_p.L354L NM_018303.5 NP_060773.3 Q96KP1 EXOC2_HUMAN exocyst complex component 2 759 exocytosis|protein transport breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2) 46 Ovarian(93;0.0733) Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897) OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14) AATTTTCAAAGAGTCTTTGAT 0.383000 20 49 0 0 1 0 0 SLC2A2 6514 broad.mit.edu 37 3 170715730 170715730 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr3:170715730C>T ENST00000314251.3 - 11 1616 c.1537G>A c.(1537-1539)Gta>Ata p.V513I SLC2A2_ENST00000382808.4_Missense_Mutation_p.V394I NM_000340.1 NP_000331.1 P11168 GTR2_HUMAN solute carrier family 2 (facilitated glucose transporter), member 2 513 carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion integral to plasma membrane|membrane fraction D-glucose transmembrane transporter activity central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14) TTCATTTCTACAGCAGCTTTT 0.383000 43 56 0 0 1 0 0 CDK5RAP1 51654 broad.mit.edu 37 20 31958311 31958311 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr20:31958311C>T ENST00000357886.4 - 12 1581 c.1428G>A c.(1426-1428)atG>atA p.M476I CDK5RAP1_ENST00000346416.2_Missense_Mutation_p.M462I|CDK5RAP1_ENST00000473997.1_Missense_Mutation_p.M372I|CDK5RAP1_ENST00000339269.5_Missense_Mutation_p.M385I|CDK5RAP1_ENST00000544843.1_Intron Q96SZ6 CK5P1_HUMAN CDK5 regulatory subunit associated protein 1 476 CDK5R1-binding. brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification cytoplasm 4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1) 26 TCACCTGTCTCATGCTGTAGG 0.542000 36 82 0 0 1 0 0 KIAA1468 57614 broad.mit.edu 37 18 59958847 59958847 + Missense_Mutation SNP C C G TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr18:59958847C>G ENST00000256858.6 + 28 3792 c.3544C>G c.(3544-3546)Ctc>Gtc p.L1182V KIAA1468_ENST00000398130.2_Missense_Mutation_p.L1148V Q9P260 K1468_HUMAN KIAA1468 1148 binding autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 47 Colorectal(73;0.186) CATGGAACATCTCTCTCCAGA 0.393000 13 53 0 0 1 0 0 NCK2 8440 broad.mit.edu 37 2 106509608 106509608 + Silent SNP C C G TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr2:106509608C>G ENST00000233154.4 + 5 1561 c.1119C>G c.(1117-1119)ctC>ctG p.L373L NCK2_ENST00000393349.2_Silent_p.L373L|NCK2_ENST00000451463.2_3'UTR|NCK2_ENST00000522586.1_3'UTR NM_003581.4 NP_003572.2 O43639 NCK2_HUMAN NCK adaptor protein 2 373 SH2. axon guidance|epidermal growth factor receptor signaling pathway|negative regulation of cell proliferation|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of epidermal growth factor receptor activity|regulation of translation|signal complex assembly|T cell activation cytosol|endoplasmic reticulum cytoskeletal adaptor activity|receptor signaling complex scaffold activity endometrium(1)|lung(3)|ovary(1) 5 GGGAGAAGCTCTACCTCGTCA 0.672000 6 11 0 0 1 0 0 CACNB1 782 broad.mit.edu 37 17 37343123 37343123 + Silent SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr17:37343123G>A ENST00000394303.3 - 5 681 c.474C>T c.(472-474)ttC>ttT p.F158F CACNB1_ENST00000344140.5_Silent_p.F158F|CACNB1_ENST00000582877.1_5'UTR|CACNB1_ENST00000394310.3_Silent_p.F158F NM_000723.4 NP_000714.3 Q02641 CACB1_HUMAN calcium channel, voltage-dependent, beta 1 subunit 158 SH3. axon guidance voltage-gated calcium channel complex breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1) 16 Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661) GGCTGGGAATGAAGCCAACCT 0.587000 40 58 0 0 1 0 0 VSTM4 196740 broad.mit.edu 37 10 50315961 50315961 + Silent SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr10:50315961G>A ENST00000332853.4 - 2 158 c.135C>T c.(133-135)ctC>ctT p.L45L VSTM4_ENST00000298454.3_Silent_p.L45L NM_001031746.3 NP_001026916.2 Q8IW00 CJ072_HUMAN V-set and transmembrane domain containing 4 Ig-like. integral to membrane|plasma membrane breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2) 31 AGACGTGGCAGAGGAGAGTGG 0.592000 5 14 0 0 1 0 0 C17orf104 284071 broad.mit.edu 37 17 42744034 42744034 + Missense_Mutation SNP C C A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr17:42744034C>A ENST00000409122.2 + 5 897 c.755C>A c.(754-756)aCa>aAa p.T252K C17orf104_ENST00000409464.1_Missense_Mutation_p.T86K|C17orf104_ENST00000359945.3_Missense_Mutation_p.T252K NM_001145080.2 NP_001138552.2 A2RUB1 CQ104_HUMAN chromosome 17 open reading frame 104 252 autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|skin(1) 24 AATATTCAGACAAATGATACA 0.353000 8 10 0.000157383 0.000158762 1 1 0 EGFR 1956 broad.mit.edu 37 7 55224296 55224296 + Missense_Mutation SNP C C A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr7:55224296C>A ENST00000275493.2 + 9 1254 c.1077C>A c.(1075-1077)ttC>ttA p.F359L EGFR_ENST00000420316.2_Missense_Mutation_p.F359L|EGFR_ENST00000442591.1_Missense_Mutation_p.F359L|EGFR_ENST00000342916.3_Missense_Mutation_p.F359L|EGFR_ENST00000455089.1_Missense_Mutation_p.F314L|EGFR_ENST00000454757.2_Missense_Mutation_p.F306L|EGFR_ENST00000344576.2_Missense_Mutation_p.F359L NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 359 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) TTAAACACTTCAAAAACTGCA 0.418000 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 14 56 4.3838e-07 4.48771e-07 1 1 0 CRMP1 1400 broad.mit.edu 37 4 5841313 5841313 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr4:5841313C>T ENST00000324989.7 - 9 1334 c.1246G>A c.(1246-1248)Gtg>Atg p.V416M CRMP1_ENST00000512574.1_Missense_Mutation_p.V300M|CRMP1_ENST00000397890.2_Missense_Mutation_p.V302M|CRMP1_ENST00000511535.1_5'UTR NM_001014809.1 NP_001014809.1 Q14194 DPYL1_HUMAN collapsin response mediator protein 1 302 axon guidance|pyrimidine base catabolic process cytosol|microtubule organizing center|spindle dihydropyrimidinase activity|protein binding NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 36 Colorectal(103;0.0721) GGGGAAGTCACGAACGCCGCA 0.642000 5 2 0 0 1 0 0 EXOC3 11336 broad.mit.edu 37 5 453787 453787 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr5:453787G>A ENST00000512944.1 + 4 856 c.667G>A c.(667-669)Gac>Aac p.D223N EXOC3_ENST00000315013.5_Missense_Mutation_p.D223N NM_007277.4 NP_009208.2 O60645 EXOC3_HUMAN exocyst complex component 3 234 exocytosis|protein transport breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1) 23 Ovarian(839;0.0563) Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863) AGAGAAAATTGACAGGCGCAT 0.517000 22 53 0 0 1 0 0 METAP1D 254042 broad.mit.edu 37 2 172935695 172935695 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr2:172935695G>A ENST00000315796.4 + 6 988 c.601G>A c.(601-603)Gaa>Aaa p.E201K METAP1D_ENST00000488581.1_3'UTR NM_199227.1 NP_954697.1 Q6UB28 AMP1D_HUMAN methionyl aminopeptidase type 1D (mitochondrial) 201 N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis mitochondrion aminopeptidase activity|metal ion binding|metalloexopeptidase activity NS(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1) 8 CAATGTGGACGAATGTGGTAA 0.413000 64 45 0 0 1 0 0 ABCG1 9619 broad.mit.edu 37 21 43621831 43621831 + Nonsense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr21:43621831C>T ENST00000398457.2 + 2 306 c.46C>T c.(46-48)Cag>Tag p.Q16* ABCG1_ENST00000462050.1_3'UTR NM_207627.1|NM_207628.1 NP_997510.1|NP_997511.1 P45844 ABCG1_HUMAN ATP-binding cassette, sub-family G (WHITE), member 1 0 amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1) 29 Adenosine triphosphate(DB00171) gccctgccctcaGGTGTGGTC 0.547000 14 25 0 0 1 0 0 BRINP3 339479 broad.mit.edu 37 1 190129905 190129905 + Silent SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr1:190129905C>T ENST00000367462.3 - 7 1308 c.1077G>A c.(1075-1077)gaG>gaA p.E359E BRINP3_ENST00000534846.1_Silent_p.E257E NM_199051.1 NP_950252.1 bone morphogenetic protein/retinoic acid inducible neural-specific 3 359 TCATGCTGTTCTCCAGTTGTT 0.388000 21 186 0 0 1 0 0 BLNK 29760 broad.mit.edu 37 10 97987298 97987298 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr10:97987298C>T ENST00000224337.5 - 5 370 c.229G>A c.(229-231)Gag>Aag p.E77K BLNK_ENST00000427367.2_Missense_Mutation_p.E77K|BLNK_ENST00000413476.2_Missense_Mutation_p.E77K|BLNK_ENST00000371176.2_Missense_Mutation_p.E77K NM_013314.3 NP_037446.1 Q8WV28 BLNK_HUMAN B-cell linker 77 B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction cytoplasm|plasma membrane SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1) 14 Colorectal(252;0.083) Epithelial(162;7.89e-08)|all cancers(201;2.27e-06) TCCGAGTGCTCATCTGGATTT 0.587000 20 70 0 0 1 0 0 HPSE2 60495 broad.mit.edu 37 10 100995299 100995299 + Silent SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr10:100995299G>A ENST00000370552.3 - 1 320 c.261C>T c.(259-261)atC>atT p.I87I HPSE2_ENST00000370546.1_Silent_p.I87I|HPSE2_ENST00000404542.1_Silent_p.I87I|HPSE2_ENST00000370549.1_Silent_p.I87I NM_021828.4 NP_068600.4 Q8WWQ2 HPSE2_HUMAN heparanase 2 87 carbohydrate metabolic process intracellular|membrane cation binding|heparanase activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 40 Epithelial(162;1.8e-09)|all cancers(201;4.72e-07) CATCATGAATGATGGACGGAT 0.468000 23 52 0 0 1 0 0 RASIP1 54922 broad.mit.edu 37 19 49224177 49224177 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr19:49224177G>A ENST00000222145.4 - 12 2974 c.2770C>T c.(2770-2772)Cca>Tca p.P924S NM_017805.2 NP_060275.2 Q5U651 RAIN_HUMAN Ras interacting protein 1 924 signal transduction Golgi stack|perinuclear region of cytoplasm central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 21 all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222) TCCGTCACTGGACCAGTGAGG 0.667000 11 29 0 0 1 0 0 OR51A7 119687 broad.mit.edu 37 11 4928760 4928760 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr11:4928760C>T ENST00000359350.4 + 1 161 c.161C>T c.(160-162)tCg>tTg p.S54L MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron NM_001004749.1 NP_001004749.1 Q8NH64 O51A7_HUMAN olfactory receptor, family 51, subfamily A, member 7 54 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) ACAGAGCCCTCGCTTCATGAG 0.493000 17 70 0 0 1 0 0 LY75 4065 broad.mit.edu 37 2 160750545 160750545 + Missense_Mutation SNP A A T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr2:160750545A>T ENST00000263636.4 - 3 544 c.517T>A c.(517-519)Ttc>Atc p.F173I LY75_ENST00000553424.1_Missense_Mutation_p.F173I|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.F173I|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.F173I|LY75_ENST00000554112.1_Missense_Mutation_p.F173I NM_002349.3 NP_002340.2 lymphocyte antigen 75 NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 59 COAD - Colon adenocarcinoma(177;0.132) TCAATTAAGAATGGAAATTCA 0.428000 68 24 0 0 1 0 0 CCDC178 374864 broad.mit.edu 37 18 30795535 30795535 + Missense_Mutation SNP T T A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr18:30795535T>A ENST00000383096.3 - 19 2239 c.2057A>T c.(2056-2058)gAt>gTt p.D686V CCDC178_ENST00000300227.8_Missense_Mutation_p.D648V|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000403303.1_Missense_Mutation_p.D686V|CCDC178_ENST00000406524.2_Missense_Mutation_p.D686V|CCDC178_ENST00000402325.1_Missense_Mutation_p.D686V|CCDC178_ENST00000579947.1_Missense_Mutation_p.D686V|CCDC178_ENST00000583930.1_Missense_Mutation_p.D686V coiled-coil domain containing 178 AAGTGTCTGATCAAAACTTTT 0.214000 8 21 0 0 1 0 0 ALPK3 57538 broad.mit.edu 37 15 85401044 85401044 + Silent SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr15:85401044G>A ENST00000258888.5 + 6 3848 c.3681G>A c.(3679-3681)caG>caA p.Q1227Q NM_020778.4 NP_065829.3 Q96L96 ALPK3_HUMAN alpha-kinase 3 1227 heart development nucleus ATP binding|protein serine/threonine kinase activity NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 BRCA - Breast invasive adenocarcinoma(143;0.0587) ACCTGGTGCAGAGTGCACAGA 0.672000 5 15 0 0 1 0 0 ZFYVE9 9372 broad.mit.edu 37 1 52705015 52705015 + Silent SNP C C T rs146046897 by1000genomes TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr1:52705015C>T ENST00000287727.3 + 4 2098 c.1926C>T c.(1924-1926)gtC>gtT p.V642V ZFYVE9_ENST00000357206.2_Silent_p.V642V|ZFYVE9_ENST00000371591.1_Silent_p.V642V O95405 ZFYV9_HUMAN zinc finger, FYVE domain containing 9 642 endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway early endosome membrane metal ion binding|protein binding|receptor activity|serine-type peptidase activity breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 53 TCTCTAATGTCGATACAAATG 0.383000 45 62 0 0 1 0 0 YWHAZ 7534 broad.mit.edu 37 8 101932958 101932958 + Missense_Mutation SNP C C G TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr8:101932958C>G ENST00000395957.2 - 7 1042 c.701G>C c.(700-702)gGa>gCa p.G234A YWHAZ_ENST00000457309.1_Missense_Mutation_p.G234A|YWHAZ_ENST00000395953.2_Missense_Mutation_p.G234A|YWHAZ_ENST00000395948.2_Missense_Mutation_p.G157A|YWHAZ_ENST00000521309.1_Missense_Mutation_p.G114A|YWHAZ_ENST00000395951.3_Missense_Mutation_p.G234A|YWHAZ_ENST00000522542.1_Missense_Mutation_p.G159A|YWHAZ_ENST00000353245.3_Missense_Mutation_p.G234A|YWHAZ_ENST00000522819.1_Missense_Mutation_p.G114A|YWHAZ_ENST00000395958.2_Missense_Mutation_p.G234A|YWHAZ_ENST00000419477.2_Missense_Mutation_p.G234A|YWHAZ_ENST00000395956.3_Missense_Mutation_p.G234A P63104 1433Z_HUMAN tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptide 234 anti-apoptosis|mRNA metabolic process|platelet activation|signal transduction cytosol|melanosome transcription factor binding large_intestine(1)|lung(2) 3 all_cancers(14;7.43e-06)|all_epithelial(15;2.77e-08)|Lung NSC(17;6.08e-05)|all_lung(17;0.000197) Epithelial(11;2.79e-11)|all cancers(13;5.45e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.75e-05) Ginkgo biloba(DB01381) AGCTTCGTCTCCTTGGGTATC 0.458000 32 102 0 0 1 0 0 KCNC3 3748 broad.mit.edu 37 19 50831719 50831719 + Silent SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr19:50831719G>A ENST00000376959.2 - 1 784 c.621C>T c.(619-621)ccC>ccT p.P207P KCNC3_ENST00000474951.1_Intron|KCNC3_ENST00000391818.2_Intron|KCNC3_ENST00000477616.1_Silent_p.P207P Q14003 KCNC3_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 3 207 cell death voltage-gated potassium channel complex voltage-gated potassium channel activity p.A208fs*116(1) endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1) 13 all_neural(266;0.057)|Ovarian(192;0.208) OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181) CGGCGCCCGCGGGGTCGGGCG 0.776000 9 9 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179594937 179594937 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr2:179594937C>T ENST00000589042.1 - 62 18414 c.18190G>A c.(18190-18192)Gac>Aac p.D6064N TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.D4820N|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.D5747N NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 5747 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) GTAGAGGTGTCATCCTTCCAA 0.473000 13 19 0 0 1 0 0 CLDN14 23562 broad.mit.edu 37 21 37833388 37833388 + Silent SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr21:37833388C>T ENST00000399137.1 - 3 1472 c.606G>A c.(604-606)acG>acA p.T202T AP000695.6_ENST00000429588.1_RNA|CLDN14_ENST00000342108.2_Silent_p.T202T|CLDN14_ENST00000399135.1_Silent_p.T202T|CLDN14_ENST00000399139.1_Silent_p.T202T|AP000695.4_ENST00000428667.1_RNA|CLDN14_ENST00000399136.1_Silent_p.T202T NM_144492.2 NP_652763.1 O95500 CLD14_HUMAN claudin 14 202 calcium-independent cell-cell adhesion|protein complex assembly|tight junction assembly endoplasmic reticulum|integral to membrane|tight junction identical protein binding|structural molecule activity endometrium(1)|lung(5)|skin(1) 7 TTGCAGTGGTCGTGGTGGCCC 0.657000 18 47 0 0 1 0 0 GTF2I 2969 broad.mit.edu 37 7 74125425 74125425 + Missense_Mutation SNP C C G TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr7:74125425C>G ENST00000324896.4 + 9 1137 c.748C>G c.(748-750)Caa>Gaa p.Q250E GTF2I_ENST00000416070.1_Missense_Mutation_p.Q250E|AC083884.8_ENST00000434256.1_RNA|AC083884.8_ENST00000594967.1_RNA|AC083884.8_ENST00000450426.2_RNA|GTF2I_ENST00000443166.1_Missense_Mutation_p.Q250E|GTF2I_ENST00000353920.4_Missense_Mutation_p.Q250E|GTF2I_ENST00000346152.4_Missense_Mutation_p.Q250E NM_032999.2 NP_127492.1 P78347 GTF2I_HUMAN general transcription factor IIi 250 negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 19 TGATTATTATCAATATAACAT 0.294000 14 49 0 0 1 0 0 CMPK1 51727 broad.mit.edu 37 1 47834186 47834186 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr1:47834186G>A ENST00000371873.5 + 2 366 c.217G>A c.(217-219)Gaa>Aaa p.E73K CMPK1_ENST00000450808.2_Intron NM_001136140.1|NM_016308.2 NP_001129612.1|NP_057392.1 P30085 KCY_HUMAN cytidine monophosphate (UMP-CMP) kinase 1, cytosolic 41 nucleobase, nucleoside and nucleotide interconversion cytosol|nucleus ATP binding|cytidylate kinase activity|nucleoside phosphate kinase activity|uridine kinase activity endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|stomach(2) 8 Gemcitabine(DB00441) GCTTCGTGATGAAAGGAAGAA 0.378000 40 35 0 0 1 0 0 LHX4 89884 broad.mit.edu 37 1 180199688 180199688 + Silent SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr1:180199688C>T ENST00000263726.2 + 1 268 c.24C>T c.(22-24)ccC>ccT p.P8P NM_033343.3 NP_203129.1 Q969G2 LHX4_HUMAN LIM homeobox 4 8 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1) 16 CGACTGTCCCCGCGGAAGGGG 0.547000 26 26 0 0 1 0 0 MPI 4351 broad.mit.edu 37 15 75185571 75185571 + Silent SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr15:75185571C>T ENST00000352410.4 + 5 647 c.580C>T c.(580-582)Ctg>Ttg p.L194L MPI_ENST00000566377.1_Silent_p.L194L|MPI_ENST00000565576.1_Silent_p.L194L|MPI_ENST00000323744.6_Intron|MPI_ENST00000564003.1_Intron|MPI_ENST00000563786.1_Silent_p.L174L|MPI_ENST00000535694.1_Silent_p.L144L|MPI_ENST00000563422.1_Silent_p.L194L|MPI_ENST00000562606.1_Silent_p.L174L P34949 MPI_HUMAN mannose phosphate isomerase 194 dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine cytosol mannose-6-phosphate isomerase activity|zinc ion binding endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1) 9 GGCCTCCTCTCTGCAGAGCTG 0.547000 10 32 0 0 1 0 0 UTRN 7402 broad.mit.edu 37 6 145051534 145051534 + Silent SNP G G C TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr6:145051534G>C ENST00000367545.3 + 53 7851 c.7851G>C c.(7849-7851)ctG>ctC p.L2617L UTRN_ENST00000367526.4_Silent_p.L172L NM_007124.2 NP_009055.2 P46939 UTRO_HUMAN utrophin 2617 muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 148 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) ATTCTGTCCTGAATGCTGTCG 0.453000 42 82 0 0 1 0 0 ALMS1 7840 broad.mit.edu 37 2 73800452 73800452 + Silent SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr2:73800452G>A ENST00000264448.6 + 16 11556 c.11445G>A c.(11443-11445)caG>caA p.Q3815Q ALMS1_ENST00000409009.1_Silent_p.Q3773Q NM_015120.4 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 3815 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 CCAACCAACAGAGGAGATACC 0.473000 13 46 0 0 1 0 0 CUX2 23316 broad.mit.edu 37 12 111729243 111729243 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr12:111729243C>T ENST00000261726.6 + 5 477 c.323C>T c.(322-324)gCg>gTg p.A108V NM_015267.3 NP_056082.2 O14529 CUX2_HUMAN cut-like homeobox 2 108 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 55 GTGTTTGAGGCGGCACGCAGC 0.652000 13 63 0 0 1 0 0 MBTPS1 8720 broad.mit.edu 37 16 84108235 84108235 + Silent SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr16:84108235G>A ENST00000343411.3 - 12 2055 c.1560C>T c.(1558-1560)aaC>aaT p.N520N MBTPS1_ENST00000569770.1_Intron NM_003791.2 NP_003782.1 Q14703 MBTP1_HUMAN membrane-bound transcription factor peptidase, site 1 520 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 CTCCCATGCCGTTGAGGATGG 0.488000 25 21 0 0 1 0 0 CFL2 1073 broad.mit.edu 37 14 35182578 35182578 + Missense_Mutation SNP C C G TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr14:35182578C>G ENST00000341223.3 - 2 344 c.193G>C c.(193-195)Gag>Cag p.E65Q CFL2_ENST00000555765.1_Missense_Mutation_p.E48Q|CFL2_ENST00000556161.1_Missense_Mutation_p.E48Q|CFL2_ENST00000298159.6_Missense_Mutation_p.E65Q NM_001243645.1|NM_021914.7 NP_001230574.1|NP_068733.1 Q9Y281 COF2_HUMAN cofilin 2 (muscle) 65 ADF-H. cytoplasm|cytoskeleton|nuclear matrix actin binding breast(3)|endometrium(2)|lung(3) 8 Breast(36;0.0361)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;6.07e-06)|Lung(238;2.23e-05)|Epithelial(34;0.0387)|all cancers(34;0.0814) GBM - Glioblastoma multiforme(112;0.0424) TAGGGGTCCTCTACAGTATCA 0.403000 26 74 0 0 1 0 0 CTDSP2 10106 broad.mit.edu 37 12 58217444 58217444 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr12:58217444C>T ENST00000398073.2 - 8 1060 c.757G>A c.(757-759)Gag>Aag p.E253K CTDSP2_ENST00000547701.1_Missense_Mutation_p.E101K|CTDSP2_ENST00000548823.1_Missense_Mutation_p.E80K NM_005730.3 NP_005721.3 O14595 CTDS2_HUMAN CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2 253 FCP1 homology. protein dephosphorylation nucleus|soluble fraction CTD phosphatase activity|metal ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2) 7 all_neural(12;0.00559)|Glioma(12;0.0143)|Melanoma(17;0.122) CTCAGCTCCTCAAAGATTGGG 0.597000 12 15 0 0 1 0 0 HOMER1 9456 broad.mit.edu 37 5 78742903 78742903 + Missense_Mutation SNP C C G TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr5:78742903C>G ENST00000334082.6 - 4 1802 c.360G>C c.(358-360)aaG>aaC p.K120N HOMER1_ENST00000282260.6_Intron|HOMER1_ENST00000508576.1_Missense_Mutation_p.K120N|HOMER1_ENST00000535690.1_Intron NM_004272.3 NP_004263.1 Q86YM7 HOME1_HUMAN homer homolog 1 (Drosophila) 120 activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1) 14 Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191) OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36) TAAGTTCCATCTTCTCTTGTG 0.333000 13 17 0 0 1 0 0 BRAT1 221927 broad.mit.edu 37 7 2577957 2577957 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr7:2577957C>T ENST00000340611.4 - 14 2468 c.2212G>A c.(2212-2214)Gag>Aag p.E738K NM_152743.3 NP_689956.2 Q6PJG6 BRAT1_HUMAN BRCA1-associated ATM activator 1 738 response to ionizing radiation nucleus protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 23 CCCCTGGCCTCCCGCAGGCTG 0.662000 9 37 0 0 1 0 0 BUB1 699 broad.mit.edu 37 2 111416076 111416076 + Missense_Mutation SNP T T C TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr2:111416076T>C ENST00000535254.1 - 12 1434 c.1367A>G c.(1366-1368)cAg>cGg p.Q456R BUB1_ENST00000409311.1_Missense_Mutation_p.Q476R|BUB1_ENST00000302759.6_Missense_Mutation_p.Q476R NM_001278616.1 NP_001265545.1 O43683 BUB1_HUMAN BUB1 mitotic checkpoint serine/threonine kinase 476 apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion condensed chromosome kinetochore|cytosol ATP binding|protein binding|protein serine/threonine kinase activity breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1) 45 Ovarian(717;0.0822) BRCA - Breast invasive adenocarcinoma(221;0.0556) TGTAGGAGCCTGAAACATATT 0.343000 15 49 0 0 1 0 0 ZKSCAN5 23660 broad.mit.edu 37 7 99103723 99103723 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr7:99103723C>T ENST00000394170.2 + 2 307 c.56C>T c.(55-57)tCc>tTc p.S19F ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.S19F|ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.S19F NM_014569.3 NP_055384.1 Q9Y2L8 ZKSC5_HUMAN zinc finger with KRAB and SCAN domains 5 19 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 21 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) GCTGAGACTTCCCAGGAGCAG 0.498000 12 67 0 0 1 0 0 CYP27B1 1594 broad.mit.edu 37 12 58160767 58160767 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr12:58160767C>T ENST00000228606.4 - 1 267 c.58G>A c.(58-60)Gag>Aag p.E20K NM_000785.3 NP_000776.1 O15528 CP27B_HUMAN cytochrome P450, family 27, subfamily B, polypeptide 1 20 bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process mitochondrial outer membrane calcidiol 1-monooxygenase activity|electron carrier activity|heme binding central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1) 15 all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122) GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294) Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153) GCGCCCAACTCGGGCGCCCAG 0.622000 37 71 0 0 1 0 0 NAF1 92345 broad.mit.edu 37 4 164087527 164087527 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr4:164087527G>A ENST00000274054.2 - 1 546 c.353C>T c.(352-354)tCg>tTg p.S118L NAF1_ENST00000422287.2_Missense_Mutation_p.S118L NM_138386.2 NP_612395.2 Q96HR8 NAF1_HUMAN nuclear assembly factor 1 ribonucleoprotein 118 Ser-rich. rRNA processing|snRNA pseudouridine synthesis cytoplasm|nucleus|small nucleolar ribonucleoprotein complex protein binding|snoRNA binding NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2) 21 all_hematologic(180;0.166) Prostate(90;0.109) GTCCGAGTCCGAATCCGAGTC 0.687000 8 7 0 0 1 0 0 FANK1 92565 broad.mit.edu 37 10 127684014 127684014 + Silent SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr10:127684014C>T ENST00000368695.1 + 4 449 c.327C>T c.(325-327)caC>caT p.H109H FANK1_ENST00000368693.1_Silent_p.H115H|FANK1_ENST00000368689.1_Silent_p.H115H NM_145235.3 NP_660278.3 Q8TC84 FANK1_HUMAN fibronectin type III and ankyrin repeat domains 1 115 cytoplasm|nucleus central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1) 21 all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936) AGCACTTGCACCGGGCTGTCA 0.483000 9 40 0 0 1 0 0 CD248 57124 broad.mit.edu 37 11 66083639 66083639 + Missense_Mutation SNP C C A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr11:66083639C>A ENST00000311330.3 - 1 876 c.860G>T c.(859-861)gGt>gTt p.G287V RP11-867G23.13_ENST00000534065.1_RNA NM_020404.2 NP_065137.1 Q9HCU0 CD248_HUMAN CD248 molecule, endosialin 287 integral to membrane|proteinaceous extracellular matrix calcium ion binding|sugar binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2) 26 Cefalotin(DB00456) TTGTGGCCCACCGGGCTCACA 0.672000 27 7 2.79863e-10 2.89933e-10 1 1 0 TBC1D12 23232 broad.mit.edu 37 10 96162370 96162370 + Translation_Start_Site SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr10:96162370G>A ENST00000225235.4 + 0 110 NM_015188.1 NP_056003.1 O60347 TBC12_HUMAN TBC1 domain family, member 12 intracellular Rab GTPase activator activity breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2) 20 Colorectal(252;0.0429) CCCACCCCCAGATGGTGGGTC 0.697000 8 25 0 0 1 0 0 HDX 139324 broad.mit.edu 37 X 83724049 83724049 + Nonsense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chrX:83724049G>A ENST00000297977.5 - 3 793 c.682C>T c.(682-684)Caa>Taa p.Q228* HDX_ENST00000373177.2_Nonsense_Mutation_p.Q228*|HDX_ENST00000506585.2_Nonsense_Mutation_p.Q170* NM_001177479.1|NM_144657.4 NP_001170950.1|NP_653258.2 Q7Z353 HDX_HUMAN highly divergent homeobox 228 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 48 TATGACCTTTGAATCCCAACT 0.413000 51 54 0 0 1 0 0 CCDC90B 60492 broad.mit.edu 37 11 82996933 82996933 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr11:82996933G>A ENST00000529689.1 - 1 517 c.83C>T c.(82-84)tCg>tTg p.S28L CCDC90B_ENST00000525503.1_5'UTR|CCDC90B_ENST00000529611.1_5'UTR|CCDC90B_ENST00000455220.2_Intron|CCDC90B_ENST00000529073.1_Missense_Mutation_p.S28L Q9GZT6 CC90B_HUMAN coiled-coil domain containing 90B 28 integral to membrane|mitochondrion kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1) 10 Acute lymphoblastic leukemia(157;0.103) CAGGGCCGGCGAGAAATGCCC 0.622000 4 4 0 0 1 0 0 CREB3L4 148327 broad.mit.edu 37 1 153941475 153941475 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr1:153941475G>A ENST00000368607.3 + 3 510 c.244G>A c.(244-246)Gaa>Aaa p.E82K CREB3L4_ENST00000368601.1_Missense_Mutation_p.E82K|CREB3L4_ENST00000368600.3_Missense_Mutation_p.E62K|CREB3L4_ENST00000405694.3_Intron|CREB3L4_ENST00000368603.1_Missense_Mutation_p.E82K|CREB3L4_ENST00000271889.4_Missense_Mutation_p.E82K NM_001255978.1|NM_001255980.1|NM_130898.3 NP_001242907.1|NP_001242909.1|NP_570968.1 Q8TEY5 CR3L4_HUMAN cAMP responsive element binding protein 3-like 4 82 response to unfolded protein endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(3) 13 all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) GTACTGCTCAGAAGCATCTCC 0.502000 4 61 0 0 1 0 0 MTBP 27085 broad.mit.edu 37 8 121468867 121468867 + Nonsense_Mutation SNP C C A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr8:121468867C>A ENST00000305949.1 + 7 749 c.704C>A c.(703-705)tCa>tAa p.S235* NM_022045.4 NP_071328.2 Q96DY7 MTBP_HUMAN Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa 235 cell cycle arrest NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 30 Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00503) GTTATTGACTCAAAGGAATTA 0.313000 30 149 3.99451e-17 4.20763e-17 1 1 0 ATP10A 57194 broad.mit.edu 37 15 25981237 25981237 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr15:25981237G>A ENST00000356865.6 - 3 817 c.706C>T c.(706-708)Cca>Tca p.P236S NM_024490.3 NP_077816.1 O60312 AT10A_HUMAN ATPase, class V, type 10A 236 ATP biosynthetic process|regulation of cell shape 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(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 103 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) TCGTTGTTTGGCTTCTCGCAT 0.498000 11 19 0 0 1 0 0 CIT 11113 broad.mit.edu 37 12 120146118 120146118 + Missense_Mutation SNP C C G TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr12:120146118C>G ENST00000392521.2 - 40 5132 c.5077G>C c.(5077-5079)Gag>Cag p.E1693Q CIT_ENST00000261833.7_Missense_Mutation_p.E1651Q|CIT_ENST00000537607.1_5'UTR NM_001206999.1 NP_001193928.1 O14578 CTRO_HUMAN citron (rho-interacting, serine/threonine kinase 21) 1651 CNH. intracellular signal transduction ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 86 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) AGTGCCCGCTCTTCTCCTGAA 0.507000 6 38 0 0 1 0 0 EIF2AK1 27102 broad.mit.edu 37 7 6080552 6080552 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr7:6080552C>T ENST00000199389.6 - 9 1236 c.1090G>A c.(1090-1092)Gaa>Aaa p.E364K EIF2AK1_ENST00000536084.1_Missense_Mutation_p.E240K NM_001134335.1|NM_014413.3 NP_001127807.1|NP_055228.2 Q9BQI3 E2AK1_HUMAN eukaryotic translation initiation factor 2-alpha kinase 1 364 Protein kinase. negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress cytoplasm ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2) 27 Ovarian(82;0.0423) UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14) TTGACATTTTCTTCGGAAGAT 0.493000 61 60 0 0 1 0 0 PDPR 55066 broad.mit.edu 37 16 70161220 70161220 + Silent SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr16:70161220G>A ENST00000288050.4 + 4 1242 c.285G>A c.(283-285)ttG>ttA p.L95L PDPR_ENST00000398122.3_5'UTR|PDPR_ENST00000568530.1_Silent_p.L95L NM_017990.3 NP_060460.4 Q8NCN5 PDPR_HUMAN pyruvate dehydrogenase phosphatase regulatory subunit 95 glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix aminomethyltransferase activity|oxidoreductase activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3) 33 BRCA - Breast invasive adenocarcinoma(221;0.124) CCAGGCACTTGACCATTGAGC 0.468000 13 90 0 0 1 0 0 DPAGT1 1798 broad.mit.edu 37 11 118971823 118971823 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr11:118971823C>T ENST00000409993.2 - 4 1738 c.187G>A c.(187-189)Ggt>Agt p.G63S DPAGT1_ENST00000354202.4_Missense_Mutation_p.G63S|DPAGT1_ENST00000432443.2_Intron|DPAGT1_ENST00000445653.1_Intron Q9H3H5 GPT_HUMAN dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase) 63 dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization integral to endoplasmic reticulum membrane|microsome phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2) 17 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.55e-05) AAAACAGCACCGCTGATCACT 0.552000 OREG0021396 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 14 0 0 1 0 0 ADCY10 55811 broad.mit.edu 37 1 167778995 167778995 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr1:167778995C>T ENST00000367848.1 - 33 4974 c.4477G>A c.(4477-4479)Gta>Ata p.V1493I ADCY10_ENST00000367851.4_Missense_Mutation_p.V1585I|ADCY10_ENST00000545172.1_Missense_Mutation_p.V1432I Q96PN6 ADCYA_HUMAN adenylate cyclase 10 (soluble) 1585 intracellular signal transduction|spermatogenesis cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction adenylate cyclase activity|ATP binding|magnesium ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1) 63 CTGCCTGCTACAATTTTTTCC 0.383000 132 50 0 0 1 0 0 ADH1C 126 broad.mit.edu 37 4 100273885 100273885 + RNA SNP C C G TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr4:100273885C>G ENST00000515683.1 - 0 299 ADH1C_ENST00000510055.1_RNA NM_000669.3 NP_000660.1 P00326 ADH1G_HUMAN alcohol dehydrogenase 1C (class I), gamma polypeptide ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase (NAD) activity|zinc ion binding OV - Ovarian serous cystadenocarcinoma(123;1.08e-07) Fomepizole(DB01213)|NADH(DB00157) TTGTGGATTTCTTCTCTGCTT 0.378000 19 50 0 0 1 0 0 FAM49B 51571 broad.mit.edu 37 8 130874493 130874493 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr8:130874493C>T ENST00000519824.2 - 5 556 c.283G>A c.(283-285)Gaa>Aaa p.E95K FAM49B_ENST00000517654.1_Missense_Mutation_p.E95K|FAM49B_ENST00000519540.1_Missense_Mutation_p.E95K|FAM49B_ENST00000518879.1_5'UTR|FAM49B_ENST00000523509.1_Missense_Mutation_p.E95K|FAM49B_ENST00000519110.1_Missense_Mutation_p.E95K|FAM49B_ENST00000522746.1_Missense_Mutation_p.E95K|FAM49B_ENST00000401979.2_Missense_Mutation_p.E95K|FAM49B_ENST00000522941.1_Intron|FAM49B_ENST00000522250.1_5'UTR NM_016623.4 NP_057707.3 Q9NUQ9 FA49B_HUMAN family with sequence similarity 49, member B 95 kidney(1)|large_intestine(6)|lung(4)|prostate(1) 12 Ovarian(5;0.000567)|Esophageal squamous(12;0.00693)|Acute lymphoblastic leukemia(118;0.155) LUAD - Lung adenocarcinoma(14;0.0989) TGAGAAAATTCGTAAAATTTC 0.358000 22 52 0 0 1 0 0 DNMT3A 1788 broad.mit.edu 37 2 25523026 25523026 + Silent SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr2:25523026C>T ENST00000264709.3 - 3 496 c.159G>A c.(157-159)agG>agA p.R53R DNMT3A_ENST00000321117.5_Silent_p.R53R|DNMT3A_ENST00000406659.3_Silent_p.R53R NM_175629.2 NP_783328.1 Q9Y6K1 DNM3A_HUMAN DNA (cytosine-5-)-methyltransferase 3 alpha 53 regulation of gene expression by genetic imprinting cytoplasm|euchromatin|nuclear matrix DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 1021 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCTTGCGCTTCCTCCCAGGCC 0.647000 """Mis, F, N, S""" AML 14 28 0 0 1 0 0 C5orf28 64417 broad.mit.edu 37 5 43453837 43453837 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr5:43453837C>T ENST00000500337.2 - 4 566 c.235G>A c.(235-237)Gaa>Aaa p.E79K C5orf28_ENST00000397080.3_Missense_Mutation_p.E79K|C5orf28_ENST00000537319.1_Intron|C5orf28_ENST00000511525.1_Intron|C5orf28_ENST00000510130.1_Intron|C5orf28_ENST00000512085.1_Missense_Mutation_p.E79K Q0VDI3 CE028_HUMAN chromosome 5 open reading frame 28 79 integral to membrane breast(1)|kidney(1)|large_intestine(2)|lung(5) 9 Lung NSC(6;2.07e-05) AAAATGATTTCTCCAAAGTCA 0.393000 7 59 0 0 1 0 0 GAS6 2621 broad.mit.edu 37 13 114541062 114541062 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr13:114541062G>A ENST00000357389.3 - 6 721 c.569C>T c.(568-570)tCt>tTt p.S190F GAS6_ENST00000355761.4_Missense_Mutation_p.S136F|GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000327773.6_Missense_Mutation_p.S190F Q14393 GAS6_HUMAN growth arrest-specific 6 190 EGF-like 2; calcium-binding (Potential). cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen calcium ion binding|receptor agonist activity central_nervous_system(4)|ovary(1) 5 Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188) CCTGCCATCAGAGGAGAGCTC 0.597000 25 24 0 0 1 0 0 CACNA1B 774 broad.mit.edu 37 9 140850223 140850223 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr9:140850223G>A ENST00000371372.1 + 8 1289 c.1144G>A c.(1144-1146)Gag>Aag p.E382K CACNA1B_ENST00000371357.1_Missense_Mutation_p.E382K|CACNA1B_ENST00000371363.1_Missense_Mutation_p.E382K|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371355.4_Missense_Mutation_p.E382K|CACNA1B_ENST00000277551.2_Missense_Mutation_p.E382K NM_000718.3|NM_001243812.1 NP_000709.1|NP_001230741.1 Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, alpha 1B subunit 382 Binding to the beta subunit (By similarity). membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) GCAGCAGATCGAGCGAGAGCT 0.642000 7 6 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11583103 11583103 + Missense_Mutation SNP A A G TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr17:11583103A>G ENST00000262442.4 + 18 3451 c.3383A>G c.(3382-3384)aAg>aGg p.K1128R DNAH9_ENST00000454412.2_Missense_Mutation_p.K1128R NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) TTTATAAAGAAGAGTGAGAGC 0.428000 18 45 0 0 1 0 0 FANCI 55215 broad.mit.edu 37 15 89804819 89804819 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr15:89804819C>T ENST00000310775.7 + 5 378 c.292C>T c.(292-294)Cac>Tac p.H98Y FANCI_ENST00000567996.1_Missense_Mutation_p.H98Y|FANCI_ENST00000300027.8_Missense_Mutation_p.H98Y|FANCI_ENST00000451393.2_5'UTR NM_001113378.1 NP_001106849.1 Q9NVI1 FANCI_HUMAN Fanconi anemia, complementation group I 98 cell cycle|DNA repair nucleoplasm protein binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Lung NSC(78;0.0472)|all_lung(78;0.089) CTTTTAGGCTCACCATTTTCC 0.348000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 10 95 0 0 1 0 0 FILIP1 27145 broad.mit.edu 37 6 76022802 76022802 + Missense_Mutation SNP G G T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr6:76022802G>T ENST00000393004.2 - 5 2967 c.2746C>A c.(2746-2748)Cca>Aca p.P916T FILIP1_ENST00000370020.1_Missense_Mutation_p.P817T|FILIP1_ENST00000237172.7_Missense_Mutation_p.P916T|FILIP1_ENST00000498523.1_5'UTR Q7Z7B0 FLIP1_HUMAN filamin A interacting protein 1 916 breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4) 80 TCGTGGTCTGGTGTCACTCGA 0.507000 33 70 1.22384e-17 1.2911e-17 1 1 0 SLC16A5 9121 broad.mit.edu 37 17 73096140 73096140 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr17:73096140G>A ENST00000450736.2 + 4 797 c.382G>A c.(382-384)Gtg>Atg p.V128M SLC16A5_ENST00000580123.1_Missense_Mutation_p.V128M|SLC16A5_ENST00000538213.2_Missense_Mutation_p.V168M|SLC16A5_ENST00000329783.4_Missense_Mutation_p.V128M O15375 MOT6_HUMAN solute carrier family 16 (monocarboxylate transporter), member 5 128 organic anion transport integral to plasma membrane|membrane fraction secondary active monocarboxylate transmembrane transporter activity|symporter activity central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 22 all_lung(278;0.226) LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235) Pyruvic acid(DB00119) AAGCATCACGGTGCTGGGCTT 0.677000 29 56 0 0 1 0 0 SLC22A12 116085 broad.mit.edu 37 11 64359098 64359098 + Missense_Mutation SNP C C G TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr11:64359098C>G ENST00000377574.1 + 1 817 c.70C>G c.(70-72)Ctg>Gtg p.L24V SLC22A12_ENST00000377567.2_Missense_Mutation_p.L24V|SLC22A12_ENST00000336464.7_Missense_Mutation_p.L24V|SLC22A12_ENST00000473690.1_Intron|SLC22A12_ENST00000377572.1_Missense_Mutation_p.L24V NM_144585.2 NP_653186.2 Q96S37 S22AC_HUMAN solute carrier family 22 (organic anion/urate transporter), member 12 24 cellular homeostasis|response to drug|urate metabolic process apical plasma membrane|brush border membrane|integral to membrane PDZ domain binding|urate transmembrane transporter activity central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 27 GACGATGGCTCTGATGGTCTC 0.617000 23 97 0 0 1 0 0 ANKMY1 51281 broad.mit.edu 37 2 241463379 241463379 + Silent SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr2:241463379C>T ENST00000391987.1 - 8 1854 c.1488G>A c.(1486-1488)ctG>ctA p.L496L ANKMY1_ENST00000272972.3_Silent_p.L496L|ANKMY1_ENST00000361678.4_Silent_p.L355L|ANKMY1_ENST00000406958.1_Silent_p.L257L|ANKMY1_ENST00000373318.2_Silent_p.L355L|ANKMY1_ENST00000536462.1_Silent_p.L308L|ANKMY1_ENST00000373320.4_Silent_p.L266L|ANKMY1_ENST00000401804.1_Silent_p.L585L|ANKMY1_ENST00000403283.1_Silent_p.L434L|ANKMY1_ENST00000405002.1_Silent_p.L266L|ANKMY1_ENST00000405523.3_Silent_p.L355L NM_001282771.1 NP_001269700.1 Q9P2S6 ANKY1_HUMAN ankyrin repeat and MYND domain containing 1 496 zinc ion binding central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 30 all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476) AGGCCATCTTCAGCAAGCTGT 0.597000 54 9 0 0 1 0 0 SAMD9 54809 broad.mit.edu 37 7 92732696 92732696 + Silent SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr7:92732696C>T ENST00000379958.2 - 3 2984 c.2715G>A c.(2713-2715)ctG>ctA p.L905L NM_001193307.1|NM_017654.3 NP_001180236.1|NP_060124.2 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 905 cytoplasm NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) TCTGCCCTTTCAGGATATTCC 0.338000 4 54 0 0 1 0 0 MDM2 4193 broad.mit.edu 37 12 69230498 69230498 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr12:69230498C>T ENST00000462284.1 + 10 1189 c.887C>T c.(886-888)tCa>tTa p.S296L MDM2_ENST00000393410.1_Intron|MDM2_ENST00000258148.7_Missense_Mutation_p.S241L|MDM2_ENST00000348801.2_Intron|MDM2_ENST00000478070.1_Intron|MDM2_ENST00000540827.1_Missense_Mutation_p.S95L|MDM2_ENST00000428863.2_Intron|MDM2_ENST00000258149.5_Missense_Mutation_p.S235L|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000393412.3_Intron|MDM2_ENST00000393413.3_Intron|MDM2_ENST00000299252.4_Missense_Mutation_p.S120L|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000360430.2_Missense_Mutation_p.S95L|MDM2_ENST00000350057.5_Missense_Mutation_p.S265L|MDM2_ENST00000356290.4_Missense_Mutation_p.S120L NM_002392.4 NP_002383.2 Q00987 MDM2_HUMAN MDM2 oncogene, E3 ubiquitin protein ligase 290 ARF-binding.|Asp/Glu-rich (acidic).|Interaction with MTBP (By similarity).|Necessary for interaction with USP2.|Region II. cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1) 19 all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684) all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143) GATACAGATTCATTTGAAGAA 0.323000 A """sarcoma, glioma, colorectal, other""" 41 3067 0 0 1 0 0 BRINP3 339479 broad.mit.edu 37 1 190067555 190067555 + Missense_Mutation SNP G G T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr1:190067555G>T ENST00000367462.3 - 8 2125 c.1894C>A c.(1894-1896)Cgc>Agc p.R632S BRINP3_ENST00000534846.1_Missense_Mutation_p.R530S NM_199051.1 NP_950252.1 bone morphogenetic protein/retinoic acid inducible neural-specific 3 632 p.R632C(1) GACTTGATGCGACTTCTCAGG 0.423000 20 285 1.55795e-14 1.6336e-14 1 1 0 MAP3K10 4294 broad.mit.edu 37 19 40715113 40715113 + Silent SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr19:40715113G>A ENST00000253055.3 + 6 1827 c.1539G>A c.(1537-1539)ctG>ctA p.L513L NM_002446.3 NP_002437.2 Q02779 M3K10_HUMAN mitogen-activated protein kinase kinase kinase 10 513 activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway cytoplasm ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 24 TCCCCCGGCTGAGGGCCATTC 0.552000 24 31 0 0 1 0 0 MBD5 55777 broad.mit.edu 37 2 149227434 149227434 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr2:149227434G>A ENST00000407073.1 + 9 2919 c.1922G>A c.(1921-1923)cGa>cAa p.R641Q MBD5_ENST00000404807.1_Missense_Mutation_p.R641Q NM_018328.4 NP_060798.2 Q9P267 MBD5_HUMAN methyl-CpG binding domain protein 5 641 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) CAAAGTGGTCGAGCAGCACTA 0.483000 27 68 0 0 1 0 0 CHPF2 54480 broad.mit.edu 37 7 150932354 150932354 + Missense_Mutation SNP G G C TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr7:150932354G>C ENST00000035307.2 + 2 1997 c.484G>C c.(484-486)Gag>Cag p.E162Q CHPF2_ENST00000495645.1_Missense_Mutation_p.E154Q NM_019015.1 NP_061888.1 Q9P2E5 CHPF2_HUMAN chondroitin polymerizing factor 2 162 Golgi cisterna membrane|integral to membrane N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3) 17 GCTCATGTCAGAGACCCTGCG 0.637000 7 51 0 0 1 0 0 DEPTOR 64798 broad.mit.edu 37 8 120886110 120886110 + Silent SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr8:120886110C>T ENST00000286234.5 + 1 154 c.24C>T c.(22-24)ggC>ggT p.G8G KB-1471A8.1_ENST00000500705.3_lincRNA|DEPTOR_ENST00000523492.1_Silent_p.G8G NM_022783.2 NP_073620.2 Q8TB45 DPTOR_HUMAN DEP domain containing MTOR-interacting protein 8 intracellular signal transduction|negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|regulation of apoptosis intracellular protein binding endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|skin(1)|upper_aerodigestive_tract(2) 18 GCAGCACTGGCAGTGCTGGCA 0.662000 24 34 0 0 1 0 0 SYCP3 50511 broad.mit.edu 37 12 102127436 102127436 + Missense_Mutation SNP C C G TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr12:102127436C>G ENST00000392927.3 - 6 501 c.370G>C c.(370-372)Gaa>Caa p.E124Q SYCP3_ENST00000392924.1_Missense_Mutation_p.E124Q|SYCP3_ENST00000266743.2_Missense_Mutation_p.E124Q NM_001177948.1|NM_001177949.1|NM_153694.4 NP_001171419.1|NP_001171420.1|NP_710161.1 Q8IZU3 SYCP3_HUMAN synaptonemal complex protein 3 124 Gln-rich. cell division|male meiosis I|spermatogenesis, exchange of chromosomal proteins nucleus DNA binding endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(1) 11 TGAGAATATTCTTGGTTAAGC 0.308000 12 103 0 0 1 0 0 ZIK1 284307 broad.mit.edu 37 19 58101690 58101690 + Missense_Mutation SNP G G C TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr19:58101690G>C ENST00000597850.1 + 4 726 c.511G>C c.(511-513)Gag>Cag p.E171Q ZIK1_ENST00000307468.4_3'UTR|ZIK1_ENST00000599456.1_Missense_Mutation_p.E116Q|ZIK1_ENST00000536878.2_Missense_Mutation_p.E158Q NM_001010879.2 NP_001010879.2 Q3SY52 ZIK1_HUMAN zinc finger protein interacting with K protein 1 171 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) TCGCAAATGGGAGGTTGGAAA 0.502000 6 53 0 0 1 0 0 AP5B1 91056 broad.mit.edu 37 11 65546637 65546637 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr11:65546637C>T ENST00000532090.2 - 2 1537 c.1327G>A c.(1327-1329)Gag>Aag p.E443K NM_138368.4 NP_612377.4 Q2VPB7 YK046_HUMAN adaptor-related protein complex 5, beta 1 subunit 386 protein binding lung(1) 1 GCCAGCAGCTCTTCCAGGTAG 0.657000 6 23 0 0 1 0 0 KIF2A 3796 broad.mit.edu 37 5 61649158 61649158 + Missense_Mutation SNP A A G TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr5:61649158A>G ENST00000381103.2 + 7 939 c.454A>G c.(454-456)Aaa>Gaa p.K152E KIF2A_ENST00000407818.3_Missense_Mutation_p.K172E|KIF2A_ENST00000509663.2_Intron|KIF2A_ENST00000401507.3_Missense_Mutation_p.K172E|KIF2A_ENST00000506857.1_Missense_Mutation_p.K126E NM_001243952.1 NP_001230881.1 O00139 KIF2A_HUMAN kinesin heavy chain member 2A 172 Globular (Potential). blood coagulation|cell differentiation|cell division|microtubule-based movement|mitotic prometaphase|mitotic spindle organization|nervous system development centrosome|cytosol|microtubule|spindle pole ATP binding|microtubule motor activity|protein binding NS(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|skin(1) 15 Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077) Lung(70;0.14) AAAACGAGAGAAAAGGAGATT 0.318000 4 2 0 0 1 0 0 ITGB7 3695 broad.mit.edu 37 12 53586225 53586225 + Missense_Mutation SNP T T C TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr12:53586225T>C ENST00000267082.5 - 14 2275 c.2044A>G c.(2044-2046)Atc>Gtc p.I682V ITGB7_ENST00000422257.3_Missense_Mutation_p.I682V|ITGB7_ENST00000550743.2_Missense_Mutation_p.I534V|ITGB7_ENST00000338737.4_Missense_Mutation_p.I534V NM_000889.1 NP_000880.1 P26010 ITB7_HUMAN integrin, beta 7 682 cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response integrin complex identical protein binding|metal ion binding|receptor activity NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 TCATCCAAGATAGGGGCCAAG 0.592000 4 67 0 0 1 0 0 ACIN1 22985 broad.mit.edu 37 14 23548069 23548069 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr14:23548069G>A ENST00000262710.1 - 7 2468 c.2141C>T c.(2140-2142)tCa>tTa p.S714L ACIN1_ENST00000555352.1_5'UTR|ACIN1_ENST00000605057.1_Missense_Mutation_p.S656L|ACIN1_ENST00000457657.1_Missense_Mutation_p.S674L|ACIN1_ENST00000555053.1_Missense_Mutation_p.S714L NM_001164814.1|NM_014977.3 NP_001158286.1|NP_055792 Q9UKV3 ACINU_HUMAN apoptotic chromatin condensation inducer 1 714 apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation cytosol ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 37 all_cancers(95;1.36e-05) GBM - Glioblastoma multiforme(265;0.00816) CTTTTCAGCTGATTCAGGCTG 0.537000 5 18 0 0 1 0 0 ARHGEF10L 55160 broad.mit.edu 37 1 17975110 17975110 + Silent SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr1:17975110C>T ENST00000361221.3 + 22 2493 c.2334C>T c.(2332-2334)ttC>ttT p.F778F ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000452522.1_Silent_p.F739F|ARHGEF10L_ENST00000375415.1_Silent_p.F739F|ARHGEF10L_ENST00000434513.1_Silent_p.F773F|ARHGEF10L_ENST00000167825.4_Silent_p.F481F|ARHGEF10L_ENST00000375408.3_Silent_p.F551F NM_018125.3 NP_060595 Q9HCE6 ARGAL_HUMAN Rho guanine nucleotide exchange factor (GEF) 10-like 778 regulation of Rho protein signal transduction cytoplasm Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 43 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;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204) AAGCCCCATTCTGGTGCCCGA 0.622000 8 40 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126373926 126373926 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr4:126373926C>T ENST00000394329.3 + 9 11768 c.11755C>T c.(11755-11757)Cca>Tca p.P3919S FAT4_ENST00000335110.5_Missense_Mutation_p.P2217S NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 3919 EGF-like 3; calcium-binding (Potential). 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 CCAGAATTTTCCAGGAAGCTT 0.448000 18 57 0 0 1 0 0 NSMCE2 286053 broad.mit.edu 37 8 126369555 126369555 + Silent SNP T T A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr8:126369555T>A ENST00000287437.3 + 6 729 c.513T>A c.(511-513)atT>atA p.I171I NSMCE2_ENST00000517315.1_Silent_p.I111I|NSMCE2_ENST00000522563.1_Silent_p.I171I NM_173685.2 NP_775956.1 Q96MF7 NSE2_HUMAN non-SMC element 2, MMS21 homolog (S. cerevisiae) 171 DNA recombination|DNA repair nucleus ligase activity|zinc ion binding breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2) 9 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918) CCTGCCCCATTACAAAGGTAC 0.463000 10 33 0 0 1 0 0 EXOSC5 56915 broad.mit.edu 37 19 41903212 41903212 + Missense_Mutation SNP C C A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr19:41903212C>A ENST00000221233.4 - 1 172 c.22G>T c.(22-24)Gac>Tac p.D8Y CTC-435M10.3_ENST00000540732.1_Intron|EXOSC5_ENST00000596905.1_Missense_Mutation_p.D8Y|BCKDHA_ENST00000595085.1_Intron|CTC-435M10.3_ENST00000604424.1_Intron NM_020158.3 NP_064543.3 Q9NQT4 EXOS5_HUMAN exosome component 5 8 DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin 3'-5'-exoribonuclease activity|protein binding|RNA binding endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1) 7 ATTTTGGCGTCAGTATGCGTC 0.652000 46 74 1.62263e-30 1.7303e-30 1 1 0 C22orf23 84645 broad.mit.edu 37 22 38341118 38341118 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr22:38341118C>T ENST00000249079.2 - 5 668 c.412G>A c.(412-414)Gaa>Aaa p.E138K C22orf23_ENST00000403026.1_Missense_Mutation_p.E138K|C22orf23_ENST00000403305.1_Missense_Mutation_p.E138K Q9BZE7 EVG1_HUMAN chromosome 22 open reading frame 23 138 endometrium(3)|kidney(2)|large_intestine(7) 12 Melanoma(58;0.045) CTTTTCCGTTCCTCCATGTCC 0.517000 36 41 0 0 1 0 0 EGF 1950 broad.mit.edu 37 4 110897256 110897256 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr4:110897256G>A ENST00000265171.5 + 13 2363 c.1918G>A c.(1918-1920)Gat>Aat p.D640N EGF_ENST00000503392.1_Missense_Mutation_p.D640N|EGF_ENST00000509793.1_Missense_Mutation_p.D598N NM_001178130.1|NM_001963.4 NP_001171601.1|NP_001954.2 P01133 EGF_HUMAN epidermal growth factor 640 angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface integral to membrane|plasma membrane|platelet alpha granule lumen calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Hepatocellular(203;0.0893) OV - Ovarian serous cystadenocarcinoma(123;9.87e-06) Sulindac(DB00605) AGCCAGCTCTGATCTAATCTG 0.448000 30 68 0 0 1 0 0 ACTN2 88 broad.mit.edu 37 1 236883473 236883473 + Nonsense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr1:236883473C>T ENST00000366578.4 + 4 596 c.430C>T c.(430-432)Cag>Tag p.Q144* ACTN2_ENST00000542672.1_Nonsense_Mutation_p.Q144*|ACTN2_ENST00000492634.1_3'UTR NM_001103.2|NM_001278343.1 NP_001094.1|NP_001265272.1 P35609 ACTN2_HUMAN actinin, alpha 2 144 Actin-binding. focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3) 86 Ovarian(103;0.0634)|Breast(184;0.221) all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00168) CTTTGCTATTCAGGATATTTC 0.333000 14 61 0 0 1 0 0 NKTR 4820 broad.mit.edu 37 3 42680017 42680017 + Missense_Mutation SNP C C A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr3:42680017C>A ENST00000232978.8 + 13 3009 c.2821C>A c.(2821-2823)Ctg>Atg p.L941M RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA NM_005385.3 NP_005376.2 P30414 NKTR_HUMAN natural killer-tumor recognition sequence 941 protein folding membrane cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 41 KIRC - Kidney renal clear cell carcinoma(284;0.24) AAATACTTCACTGCCTGATGA 0.453000 7 37 0.00448238 0.00449539 1 1 0 C1orf95 375057 broad.mit.edu 37 1 226784666 226784666 + Missense_Mutation SNP C C G TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr1:226784666C>G ENST00000366789.4 + 2 471 c.366C>G c.(364-366)gaC>gaG p.D122E C1orf95_ENST00000366788.3_Missense_Mutation_p.D122E Q69YW2 CA095_HUMAN chromosome 1 open reading frame 95 122 integral to membrane large_intestine(1)|lung(4)|ovary(3) 8 Breast(184;0.133) Prostate(94;0.0885) GBM - Glioblastoma multiforme(131;0.113) GGGGCATGGACATGGTCATCC 0.592000 13 45 0 0 1 0 0 PAPPA 5069 broad.mit.edu 37 9 119109464 119109464 + Missense_Mutation SNP T T C TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr9:119109464T>C ENST00000328252.3 + 15 4309 c.3940T>C c.(3940-3942)Tgc>Cgc p.C1314R PAPPA_ENST00000534838.1_Missense_Mutation_p.C352R NM_002581.3 NP_002572.2 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A, pappalysin 1 1314 Sushi 2. 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 TTCCTTCCAGTGCCGTCACCC 0.542000 25 3 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 186055476 186055476 + Missense_Mutation SNP G G C rs143661563 TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr1:186055476G>C ENST00000271588.4 + 58 9212 c.8983G>C c.(8983-8985)Gac>Cac p.D2995H HMCN1_ENST00000367492.2_Missense_Mutation_p.D2995H NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 2995 Ig-like C2-type 28. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 TCCACCTCCTGACCTCAGCTG 0.423000 12 25 0 0 1 0 0 KIAA0947 23379 broad.mit.edu 37 5 5460817 5460817 + Missense_Mutation SNP C C A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr5:5460817C>A ENST00000296564.7 + 13 1592 c.1370C>A c.(1369-1371)tCc>tAc p.S457Y NM_015325.2 NP_056140.1 Q9Y2F5 K0947_HUMAN KIAA0947 457 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1) 35 GCCACACACTCCTTAGTTGGT 0.418000 11 19 2.27111e-07 2.32839e-07 1 1 0 ZFYVE26 23503 broad.mit.edu 37 14 68257362 68257362 + Silent SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr14:68257362C>T ENST00000347230.4 - 15 2820 c.2682G>A c.(2680-2682)gcG>gcA p.A894A ZFYVE26_ENST00000555452.1_Silent_p.A894A NM_015346.3 NP_056161.2 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 894 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 94 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) TGCTGCTACCCGCATCTGAGT 0.547000 6 103 0 0 1 0 0 CEACAM1 634 broad.mit.edu 37 19 43031533 43031533 + Nonsense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr19:43031533C>T ENST00000161559.6 - 2 218 c.84G>A c.(82-84)tgG>tgA p.W28* CEACAM1_ENST00000308072.4_5'UTR|CEACAM1_ENST00000599389.1_Nonsense_Mutation_p.W28*|CEACAM1_ENST00000403444.3_Nonsense_Mutation_p.W28*|CEACAM1_ENST00000358394.3_Nonsense_Mutation_p.W28*|CEACAM1_ENST00000351134.3_Nonsense_Mutation_p.W28*|CEACAM1_ENST00000403461.1_Nonsense_Mutation_p.W28*|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000594688.1_RNA|CEACAM1_ENST00000352591.5_Nonsense_Mutation_p.W28* NM_001712.4 NP_001703.2 P13688 CEAM1_HUMAN carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein) 28 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) TGGGCGGGTTCCAGAAGGTTA 0.527000 20 125 0 0 1 0 0 NPHP3 27031 broad.mit.edu 37 3 132441124 132441124 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr3:132441124C>T ENST00000326682.8 - 1 152 c.76G>A c.(76-78)Gag>Aag p.E26K NPHP3_ENST00000337331.5_Missense_Mutation_p.E26K|NPHP3-AS1_ENST00000489343.1_RNA|NPHP3_ENST00000383282.2_Missense_Mutation_p.E26K|NPHP3_ENST00000343113.4_Missense_Mutation_p.E26K Q7Z494 NPHP3_HUMAN nephronophthisis 3 (adolescent) 26 maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway cilium protein binding NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 TCGCAGGCCTCGCCGCCGCCC 0.751000 7 1 0 0 1 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76486570 76486570 + Nonsense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr16:76486570C>T ENST00000307431.8 + 9 1619 c.1234C>T c.(1234-1236)Cag>Tag p.Q412* CNTNAP4_ENST00000377504.4_Nonsense_Mutation_p.Q364*|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Nonsense_Mutation_p.Q340*|CNTNAP4_ENST00000476707.1_Nonsense_Mutation_p.Q416* NM_033401.3 NP_207837.2 Q9C0A0 CNTP4_HUMAN contactin associated protein-like 4 413 Laminin G-like 2. cell adhesion|signal transduction integral to membrane receptor binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 CAGTGAACTTCAGCTGATTTC 0.453000 5 53 0 0 1 0 0 FOXRED1 55572 broad.mit.edu 37 11 126145304 126145304 + Silent SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr11:126145304C>T ENST00000263578.5 + 6 788 c.714C>T c.(712-714)ttC>ttT p.F238F FOXRED1_ENST00000534011.1_3'UTR|FOXRED1_ENST00000532125.1_Silent_p.F224F|FOXRED1_ENST00000442061.2_Silent_p.F68F NM_017547.3 NP_060017.1 Q96CU9 FXRD1_HUMAN FAD-dependent oxidoreductase domain containing 1 238 integral to membrane|mitochondrion oxidoreductase activity|protein binding breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1) 15 all_hematologic(175;0.145) Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729) GAGTCCTTTTCTGCCAGGGAG 0.532000 45 75 0 0 1 0 0 FANCI 55215 broad.mit.edu 37 15 89807248 89807248 + Silent SNP C C G TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr15:89807248C>G ENST00000310775.7 + 8 746 c.660C>G c.(658-660)ctC>ctG p.L220L FANCI_ENST00000567996.1_Silent_p.L220L|FANCI_ENST00000300027.8_Silent_p.L220L|FANCI_ENST00000451393.2_Silent_p.L41L NM_001113378.1 NP_001106849.1 Q9NVI1 FANCI_HUMAN Fanconi anemia, complementation group I 220 cell cycle|DNA repair nucleoplasm protein binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Lung NSC(78;0.0472)|all_lung(78;0.089) TTCTGGTTCTCTCCTCCAAGG 0.403000 Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 13 54 0 0 1 0 0 CES4A 283848 broad.mit.edu 37 16 67034809 67034809 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr16:67034809C>T ENST00000540947.2 + 4 636 c.452C>T c.(451-453)tCg>tTg p.S151L CES4A_ENST00000326686.5_Missense_Mutation_p.S151L|CES4A_ENST00000540579.1_Missense_Mutation_p.S53L|CES4A_ENST00000398354.1_Missense_Mutation_p.S151L|CES4A_ENST00000338718.4_Missense_Mutation_p.S174L|CES4A_ENST00000541479.1_Missense_Mutation_p.S174L|CES4A_ENST00000535696.1_Missense_Mutation_p.S53L NM_173815.6 NP_776176.5 Q5XG92 EST4A_HUMAN carboxylesterase 4A 151 extracellular region carboxylesterase activity large_intestine(2)|liver(2)|lung(4)|ovary(1) 9 GCTGCTTCTTCGTACGAGGGC 0.672000 7 18 0 0 1 0 0 DTX3L 151636 broad.mit.edu 37 3 122283456 122283456 + Silent SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr3:122283456G>A ENST00000296161.4 + 1 372 c.183G>A c.(181-183)agG>agA p.R61R DTX3L_ENST00000383661.3_Silent_p.R61R NM_138287.3 NP_612144.1 Q8TDB6 DTX3L_HUMAN deltex 3-like (Drosophila) 61 histone monoubiquitination|response to DNA damage stimulus cytoplasm|nucleus histone binding|ubiquitin-protein ligase activity|zinc ion binding breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 24 GBM - Glioblastoma multiforme(114;0.0459) TCAGTGAAAGGGCAGGTGAGC 0.687000 13 26 0 0 1 0 0 BLVRB 645 broad.mit.edu 37 19 40971569 40971569 + Silent SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr19:40971569G>A ENST00000263368.4 - 1 178 c.27C>T c.(25-27)ttC>ttT p.F9F BLVRB_ENST00000595483.1_Silent_p.F9F NM_000713.2 NP_000704.1 P30043 BLVRB_HUMAN biliverdin reductase B (flavin reductase (NADPH)) 9 heme catabolic process cytosol biliverdin reductase activity|binding|flavin reductase activity large_intestine(3)|lung(3) 6 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) NADH(DB00157)|Riboflavin(DB00140) CAGTGGCGCCGAAGATCGCGA 0.697000 10 18 0 0 1 0 0 C1orf100 200159 broad.mit.edu 37 1 244541775 244541775 + Silent SNP C C A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr1:244541775C>A ENST00000308105.4 + 4 272 c.159C>A c.(157-159)ctC>ctA p.L53L RP11-518L10.5_ENST00000417765.1_RNA|C1orf100_ENST00000366537.1_Intron NM_001012970.1 NP_001012988.1 Q5SVJ3 CA100_HUMAN chromosome 1 open reading frame 100 53 endometrium(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1) 7 all_cancers(71;3.94e-05)|all_epithelial(71;0.000138)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|all_lung(81;0.0736)|Ovarian(71;0.0761)|Lung NSC(105;0.103) all cancers(7;8.19e-08)|GBM - Glioblastoma multiforme(7;2.05e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.000984) TTAGACCGCTCATAGACTTGA 0.408000 10 48 7.03913e-09 7.24894e-09 1 1 0 HELLS 3070 broad.mit.edu 37 10 96306213 96306213 + Silent SNP T T C TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr10:96306213T>C ENST00000348459.5 + 2 216 c.111T>C c.(109-111)ctT>ctC p.L37L HELLS_ENST00000371332.4_Silent_p.L37L|HELLS_ENST00000239026.6_Silent_p.L37L|HELLS_ENST00000394044.1_Silent_p.L37L|HELLS_ENST00000394045.1_Silent_p.L37L|HELLS_ENST00000394036.1_Silent_p.L37L NM_018063.3 NP_060533.2 Q9NRZ9 HELLS_HUMAN helicase, lymphoid-specific 37 cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent centromeric heterochromatin|nucleus ATP binding|DNA binding|helicase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 22 Colorectal(252;0.0429) all cancers(201;2.13e-05) AAGAACAGCTTGAAGCTGCTG 0.527000 17 40 0 0 1 0 0 ACOX1 51 broad.mit.edu 37 17 73944430 73944430 + Nonsense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr17:73944430G>A ENST00000537812.1 - 13 2371 c.1723C>T c.(1723-1725)Cag>Tag p.Q575* ACOX1_ENST00000301608.4_Nonsense_Mutation_p.Q613*|ACOX1_ENST00000293217.5_Nonsense_Mutation_p.Q613* NM_001185039.1 NP_001171968.1 Q15067 ACOX1_HUMAN acyl-CoA oxidase 1, palmitoyl 613 fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process peroxisomal matrix acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1) 14 GTCACATCCTGAAAATCAAAT 0.453000 67 96 0 0 1 0 0 SPTBN5 51332 broad.mit.edu 37 15 42170706 42170706 + Nonsense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr15:42170706G>A ENST00000320955.6 - 17 3531 c.3304C>T c.(3304-3306)Cag>Tag p.Q1102* NM_016642.2 NP_057726.4 Q9NRC6 SPTN5_HUMAN spectrin, beta, non-erythrocytic 5 1102 actin cytoskeleton organization|actin filament capping|axon guidance cytosol|membrane|spectrin NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 62 all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908) TGCCGGGCCTGAGTCTCAGCC 0.627000 3 20 0 0 1 0 0 IGHV4-61 28391 broad.mit.edu 37 14 107095422 107095422 + RNA SNP G G C TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr14:107095422G>C ENST00000390630.2 - 0 158 AGCTGCACCTGGGACAGGACC 0.617000 14 30 0 0 1 0 0 ZYG11B 79699 broad.mit.edu 37 1 53236774 53236774 + Missense_Mutation SNP C C G TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr1:53236774C>G ENST00000294353.6 + 3 424 c.279C>G c.(277-279)atC>atG p.I93M ZYG11B_ENST00000545132.1_Missense_Mutation_p.I93M|ZYG11B_ENST00000443756.2_Missense_Mutation_p.I93M NM_024646.2 NP_078922.1 Q9C0D3 ZY11B_HUMAN zyg-11 family member B, cell cycle regulator 93 protein binding breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 30 AAGCAAAGATCTCTGCTGTTG 0.453000 52 75 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25312940 25312940 + RNA SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr15:25312940G>A ENST00000549804.2 + 0 538 SNORD116-7_ENST00000384404.1_RNA|SNHG14_ENST00000551077.1_RNA TGCTTGGATCGATGATGAGTC 0.502000 35 82 0 0 1 0 0 AFF3 3899 broad.mit.edu 37 2 100170935 100170935 + Nonsense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr2:100170935G>A ENST00000409236.2 - 22 3509 c.3397C>T c.(3397-3399)Cag>Tag p.Q1133* AFF3_ENST00000356421.2_Nonsense_Mutation_p.Q1158*|AFF3_ENST00000317233.4_Nonsense_Mutation_p.Q1133*|AFF3_ENST00000409579.1_Nonsense_Mutation_p.Q1158* P51826 AFF3_HUMAN AF4/FMR2 family, member 3 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3) 86 AGGCTGCCCTGAGACCCCACG 0.642000 22 30 0 0 1 0 0 RLTPR 146206 broad.mit.edu 37 16 67681504 67681504 + Splice_Site SNP A A T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr16:67681504A>T ENST00000334583.6 + 11 1198 c.870A>T c.(868-870)cgA>cgT p.R290R RLTPR_ENST00000545661.1_Splice_Site_p.R290R NM_001013838.1 NP_001013860.1 Q6F5E8 LR16C_HUMAN RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing 290 breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2) 18 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232) TGGATGACCGAGGTATGACTG 0.662000 5 9 0 0 1 0 0 RTL1 388015 broad.mit.edu 37 14 101350751 101350751 + Silent SNP T T C TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr14:101350751T>C ENST00000534062.1 - 1 433 c.375A>G c.(373-375)tcA>tcG p.S125S NM_001134888.2 NP_001128360.1 E9PKS8 E9PKS8_HUMAN retrotransposon-like 1 125 breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2) 21 ATGGGTTGACTGATGCTTCTT 0.542000 4 13 0 0 1 0 0 EPB41L2 2037 broad.mit.edu 37 6 131206307 131206307 + Nonsense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr6:131206307G>A ENST00000337057.3 - 12 1943 c.1762C>T c.(1762-1764)Caa>Taa p.Q588* EPB41L2_ENST00000527411.1_Nonsense_Mutation_p.Q588*|EPB41L2_ENST00000445890.2_Nonsense_Mutation_p.Q588*|EPB41L2_ENST00000528282.1_Nonsense_Mutation_p.Q588*|EPB41L2_ENST00000525193.1_Nonsense_Mutation_p.Q588*|EPB41L2_ENST00000527659.1_Nonsense_Mutation_p.Q588*|EPB41L2_ENST00000392427.3_Nonsense_Mutation_p.Q588*|EPB41L2_ENST00000529208.1_Nonsense_Mutation_p.Q588*|EPB41L2_ENST00000530481.1_Nonsense_Mutation_p.Q588*|EPB41L2_ENST00000368128.2_Nonsense_Mutation_p.Q588*|EPB41L2_ENST00000525271.1_Nonsense_Mutation_p.Q588* NM_001431.3 NP_001422.1 O43491 E41L2_HUMAN erythrocyte membrane protein band 4.1-like 2 588 Hydrophilic. cortical actin cytoskeleton organization extrinsic to membrane|plasma membrane|spectrin actin binding|structural molecule activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2) 44 Breast(56;0.0639) OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355) TCCCCATCTTGTACCACGGCA 0.493000 OREG0017660 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 38 81 0 0 1 0 0 GPR75 10936 broad.mit.edu 37 2 54081110 54081110 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr2:54081110C>T ENST00000394705.2 - 2 1054 c.784G>A c.(784-786)Gat>Aat p.D262N ASB3_ENST00000498475.2_Intron|ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron NM_006794.3 NP_006785.1 O95800 GPR75_HUMAN G protein-coupled receptor 75 262 integral to plasma membrane G-protein coupled receptor activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 18 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) TGGATGGGATCTCCACCTCCC 0.542000 10 35 0 0 1 0 0 FBXW7 55294 broad.mit.edu 37 4 153247289 153247289 + Missense_Mutation SNP G G C rs149680468 TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr4:153247289G>C ENST00000281708.4 - 10 2742 c.1513C>G c.(1513-1515)Cgc>Ggc p.R505G FBXW7_ENST00000393956.3_Missense_Mutation_p.R329G|FBXW7_ENST00000603841.1_Missense_Mutation_p.R505G|FBXW7_ENST00000296555.5_Missense_Mutation_p.R387G|FBXW7_ENST00000263981.5_Missense_Mutation_p.R425G|FBXW7_ENST00000603548.1_Missense_Mutation_p.R505G NM_033632.3 NP_361014.1 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase 505 R -> L (in an ovarian cancer cell line). interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleoplasm|SCF ubiquitin ligase complex protein binding p.R505C(60)|p.R505G(18)|p.R425C(14)|p.R266C(13)|p.R425G(9)|p.R266G(9)|p.R387G(6)|p.R387C(3)|p.R505S(3)|p.R387S(1)|p.?(1)|p.R425S(1)|p.R266S(1) NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6) 462 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) TGAACACAGCGGACTGCTGCA 0.468000 """Mis, N, D, F""" """colorectal, endometrial, T-ALL""" 40 25 0 0 1 0 0 CD52 1043 broad.mit.edu 37 1 26646662 26646662 + Splice_Site SNP A A G TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr1:26646662A>G ENST00000374213.2 + 2 116 c.55A>G c.(55-57)Ata>Gta p.I19V NM_001803.2 NP_001794.2 P31358 CD52_HUMAN CD52 molecule 19 elevation of cytosolic calcium ion concentration|respiratory burst anchored to membrane|integral to plasma membrane|membrane fraction large_intestine(1) 1 all_cancers(24;5.02e-24)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.56e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0137)|READ - Rectum adenocarcinoma(331;0.0649) Alemtuzumab(DB00087) CCTCCTACAGATACAAACTGG 0.488000 13 17 0 0 1 0 0 POLM 27434 broad.mit.edu 37 7 44113619 44113619 + Silent SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr7:44113619G>A ENST00000242248.5 - 9 1178 c.1077C>T c.(1075-1077)ctC>ctT p.L359L POLM_ENST00000395831.3_Silent_p.L279L|POLM_ENST00000335195.6_Silent_p.L322L NM_013284.2 NP_037416.1 Q9NP87 DPOLM_HUMAN polymerase (DNA directed), mu 359 DNA recombination|DNA repair nucleus DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2) 22 GGTACAGGATGAGGCCCTGTG 0.627000 DNA polymerases (catalytic subunits) 6 21 0 0 1 0 0 NOX1 27035 broad.mit.edu 37 X 100125721 100125721 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chrX:100125721C>T ENST00000372966.3 - 2 333 c.128G>A c.(127-129)aGa>aAa p.R43K NOX1_ENST00000372964.1_Missense_Mutation_p.R43K|NOX1_ENST00000372960.4_Missense_Mutation_p.R43K|NOX1_ENST00000217885.5_Missense_Mutation_p.R43K NM_007052.4|NM_013955.2 NP_008983.2|NP_039249.1 Q9Y5S8 NOX1_HUMAN NADPH oxidase 1 43 angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation cell junction|early endosome|invadopodium membrane|NADPH oxidase complex electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity cervix(1)|lung(3)|ovary(1)|skin(2) 7 AAGGATTTTTCTTGTGTAGTA 0.398000 58 8 0 0 1 0 0 IGHG4 3503 broad.mit.edu 37 14 106091126 106091126 + RNA SNP C C G TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr14:106091126C>G ENST00000390543.2 - 0 670 CTGTGGCTCTCGGGGCTGCCC 0.652000 30 136 0 0 1 0 0 OVCH1 341350 broad.mit.edu 37 12 29604385 29604385 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr12:29604385C>T ENST00000318184.5 - 22 2647 c.2648G>A c.(2647-2649)aGt>aAt p.S883N OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron NM_183378.2 NP_899234.2 Q7RTY7 OVCH1_HUMAN ovochymase 1 883 CUB 3. 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) TTTTGCCATACTGCTTGCTGA 0.423000 15 34 0 0 1 0 0 PLD1 5337 broad.mit.edu 37 3 171431779 171431779 + Missense_Mutation SNP A A G TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr3:171431779A>G ENST00000356327.5 - 9 885 c.815T>C c.(814-816)aTt>aCt p.I272T PLD1_ENST00000342215.6_Missense_Mutation_p.I272T|PLD1_ENST00000351298.4_Missense_Mutation_p.I272T|PLD1_ENST00000340989.4_Missense_Mutation_p.I272T NM_001130081.2 NP_001123553.1 Q13393 PLD1_HUMAN phospholipase D1, phosphatidylcholine-specific 272 PH. cell communication|chemotaxis|Ras protein signal transduction endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 63 all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) Choline(DB00122) GACGAAGGCAATGGCACCGCT 0.358000 36 29 0 0 1 0 0 FAM227B 196951 broad.mit.edu 37 15 49659663 49659663 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr15:49659663G>A ENST00000299338.6 - 13 1556 c.1253C>T c.(1252-1254)aCt>aTt p.T418I NM_152647.2 NP_689860.2 family with sequence similarity 227, member B GAATATCTTAGTGAGTTTAAT 0.303000 15 37 0 0 1 0 0 CDK13 8621 broad.mit.edu 37 7 40027455 40027455 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr7:40027455C>T ENST00000181839.4 + 2 2074 c.1469C>T c.(1468-1470)tCa>tTa p.S490L CDK13_ENST00000484589.1_3'UTR|CDK13_ENST00000340829.5_Missense_Mutation_p.S490L NM_003718.4|NM_031267.3 NP_003709.3|NP_112557.2 Q14004 CDK13_HUMAN cyclin-dependent kinase 13 490 alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1) 49 GCAAAAGCTTCAAACACTTCT 0.478000 18 19 0 0 1 0 0 PRAMEF1 65121 broad.mit.edu 37 1 12854185 12854185 + Missense_Mutation SNP G G C TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr1:12854185G>C ENST00000332296.7 + 3 512 c.409G>C c.(409-411)Gac>Cac p.D137H NM_023013.2 NP_075389.1 O95521 PRAM1_HUMAN PRAME family member 1 137 cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 35 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|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) GACAGCAGAGGACTGTCCAAG 0.547000 9 403 0 0 1 0 0 NLRP7 199713 broad.mit.edu 37 19 55450851 55450851 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr19:55450851G>A ENST00000588756.1 - 6 1822 c.1336C>T c.(1336-1338)Cgt>Tgt p.R446C NLRP7_ENST00000340844.2_Missense_Mutation_p.R446C|NLRP7_ENST00000446217.1_Missense_Mutation_p.R474C|NLRP7_ENST00000448121.2_Missense_Mutation_p.R446C|NLRP7_ENST00000328092.5_Missense_Mutation_p.R446C|NLRP7_ENST00000590030.1_Missense_Mutation_p.R446C|NLRP7_ENST00000592784.1_Missense_Mutation_p.R446C Q8WX94 NALP7_HUMAN NLR family, pyrin domain containing 7 446 NACHT. ATP binding autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 73 GBM - Glioblastoma multiforme(193;0.0325) AGGAACAGACGGAGGTCGGAC 0.632000 13 38 0 0 1 0 0 UNC13A 23025 broad.mit.edu 37 19 17741475 17741475 + Missense_Mutation SNP G G T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr19:17741475G>T ENST00000428389.2 - 30 3776 c.3777C>A c.(3775-3777)gaC>gaA p.D1259E UNC13A_ENST00000519716.2_Missense_Mutation_p.D1171E|UNC13A_ENST00000550896.1_Missense_Mutation_p.D1169E|UNC13A_ENST00000252773.7_Missense_Mutation_p.D1171E|UNC13A_ENST00000552293.1_Missense_Mutation_p.D1171E|UNC13A_ENST00000551649.1_Missense_Mutation_p.D1171E Q9UPW8 UN13A_HUMAN unc-13 homolog A (C. elegans) 1171 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2) 61 CATCCTTCTTGTCTCGCTCCA 0.537000 24 25 1.17739e-12 1.2327e-12 1 1 0 E2F8 79733 broad.mit.edu 37 11 19256301 19256301 + Silent SNP T T C TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr11:19256301T>C ENST00000527884.1 - 5 988 c.756A>G c.(754-756)gaA>gaG p.E252E E2F8_ENST00000250024.4_Silent_p.E252E|RP11-428C19.4_ENST00000527978.1_RNA NM_001256371.1|NM_001256372.1 NP_001243300.1|NP_001243301.1 A0AVK6 E2F8_HUMAN E2F transcription factor 8 252 cell cycle transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 CTGCCCGAAATTCCACTCCAG 0.448000 21 21 0 0 1 0 0 USP40 55230 broad.mit.edu 37 2 234402151 234402151 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr2:234402151G>A ENST00000251722.6 - 25 2951 c.2834C>T c.(2833-2835)tCa>tTa p.S945L USP40_ENST00000409945.1_Missense_Mutation_p.S121L|USP40_ENST00000450966.1_Missense_Mutation_p.S957L|USP40_ENST00000427112.2_Missense_Mutation_p.S945L Q9NVE5 UBP40_HUMAN ubiquitin specific peptidase 40 945 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 30 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539) Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646) CCAGTGTCCTGAGGGACCCTG 0.493000 19 4 0 0 1 0 0 KMT2B 9757 broad.mit.edu 37 19 36229402 36229402 + Missense_Mutation SNP A A T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr19:36229402A>T ENST00000222270.7 + 37 8092 c.8092A>T c.(8092-8094)Agc>Tgc p.S2698C KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Missense_Mutation_p.S2698C NM_014727.1 NP_055542.1 lysine (K)-specific methyltransferase 2B CGAGGATGCCAGCAACAAGCT 0.622000 3 28 0 0 1 0 0 AP5B1 91056 broad.mit.edu 37 11 65546814 65546814 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr11:65546814C>T ENST00000532090.2 - 2 1360 c.1150G>A c.(1150-1152)Gaa>Aaa p.E384K NM_138368.4 NP_612377.4 Q2VPB7 YK046_HUMAN adaptor-related protein complex 5, beta 1 subunit 327 protein binding lung(1) 1 TCCTCACCTTCAGGGCCCAGC 0.657000 5 28 0 0 1 0 0 ZNF229 7772 broad.mit.edu 37 19 44936521 44936521 + Silent SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr19:44936521G>A ENST00000291187.4 - 5 436 c.114C>T c.(112-114)gaC>gaT p.D38D ZNF229_ENST00000588931.1_Silent_p.D38D|ZNF229_ENST00000591289.1_Intron|CTC-512J12.4_ENST00000588655.1_RNA NM_001278510.1 NP_001265439.1 Q9UJW7 ZN229_HUMAN zinc finger protein 229 38 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 45 Prostate(69;0.0352) CCACAGCCACGTCCTTGAAGC 0.448000 5 100 0 0 1 0 0 RBP4 5950 broad.mit.edu 37 10 95360687 95360687 + Silent SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr10:95360687G>A ENST00000371467.1 - 2 418 c.99C>T c.(97-99)ttC>ttT p.F33F RBP4_ENST00000371464.3_Silent_p.F33F|RBP4_ENST00000371469.2_Silent_p.F31F|FFAR4_ENST00000604414.1_Intron P02753 RET4_HUMAN retinol binding protein 4, plasma 33 cardiac muscle tissue development|embryonic organ morphogenesis|embryonic retina morphogenesis in camera-type eye|embryonic skeletal system development|female genitalia morphogenesis|gluconeogenesis|glucose homeostasis|heart trabecula formation|lung development|maintenance of gastrointestinal epithelium|negative regulation of cardiac muscle cell proliferation|positive regulation of immunoglobulin secretion|positive regulation of insulin secretion|response to retinoic acid|retinol metabolic process|urinary bladder development|uterus development|vagina development extracellular space protein binding|retinal binding|retinol binding large_intestine(1)|lung(3)|skin(1) 5 Colorectal(252;0.122) Vitamin A(DB00162) GAGCCTTGTCGAAGTTCTCCT 0.731000 11 24 0 0 1 0 0 RRP15 51018 broad.mit.edu 37 1 218458681 218458681 + Nonsense_Mutation SNP C C G TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr1:218458681C>G ENST00000366932.3 + 1 53 c.23C>G c.(22-24)tCa>tGa p.S8* NM_016052.3 NP_057136.2 Q9Y3B9 RRP15_HUMAN ribosomal RNA processing 15 homolog (S. cerevisiae) 8 mitochondrion|nucleolus protein binding ACBD6/RRP15(2) NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1) 14 all cancers(67;0.0315)|OV - Ovarian serous cystadenocarcinoma(81;0.0411)|GBM - Glioblastoma multiforme(131;0.06)|Epithelial(68;0.248) GCTCCGGACTCACGTGTGAGT 0.547000 8 26 0 0 1 0 0 RUNX1 861 broad.mit.edu 37 21 36228727 36228727 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr21:36228727G>A ENST00000486278.2 - 7 774 c.559C>T c.(559-561)Cgg>Tgg p.R187W RUNX1_ENST00000358356.5_Intron|RUNX1_ENST00000399240.1_Intron|RUNX1_ENST00000437180.1_Intron|RUNX1_ENST00000325074.5_Intron|RUNX1_ENST00000300305.3_Intron|RUNX1_ENST00000344691.4_Intron Q01196 RUNX1_HUMAN runt-related transcription factor 1 357 Pro/Ser/Thr-rich. myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent nucleus ATP binding|calcium ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 452 tgaggataccgaggccaggtc 0.393000 T """RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4""" """AML, preB- ALL, T-ALL""" 16 40 0 0 1 0 0 TMEM66 51669 broad.mit.edu 37 8 29927436 29927436 + Missense_Mutation SNP A A G TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr8:29927436A>G ENST00000256255.6 - 3 679 c.422T>C c.(421-423)cTt>cCt p.L141P TMEM66_ENST00000545648.1_5'UTR|TMEM66_ENST00000536273.1_5'UTR NM_016127.4 NP_057211.4 Q96BY9 TMM66_HUMAN transmembrane protein 66 141 integral to membrane endometrium(2)|large_intestine(1)|lung(11) 14 KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119) CTGCAGGCCAAGTTCTGTATA 0.438000 20 38 0 0 1 0 0 NUP205 23165 broad.mit.edu 37 7 135298916 135298916 + Nonsense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr7:135298916C>T ENST00000285968.6 + 23 3231 c.3205C>T c.(3205-3207)Cag>Tag p.Q1069* NM_015135.2 NP_055950 Q92621 NU205_HUMAN nucleoporin 205kDa 1069 carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 93 GGTCATATATCAGTTATGTGC 0.353000 10 65 0 0 1 0 0 PCNXL2 80003 broad.mit.edu 37 1 233394530 233394530 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr1:233394530C>T ENST00000258229.9 - 5 1312 c.1078G>A c.(1078-1080)Gat>Aat p.D360N PCNXL2_ENST00000430153.1_5'UTR NM_014801.3 NP_055616.3 A6NKB5 PCX2_HUMAN pecanex-like 2 (Drosophila) 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) TGAGAAGTATCGATGAGAGTA 0.502000 27 47 0 0 1 0 0 POLE 5426 broad.mit.edu 37 12 133234465 133234465 + Missense_Mutation SNP C C G TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr12:133234465C>G ENST00000320574.5 - 27 3410 c.3367G>C c.(3367-3369)Gat>Cat p.D1123H POLE_ENST00000535270.1_Missense_Mutation_p.D1096H NM_006231.2 NP_006222.2 Q07864 DPOE1_HUMAN polymerase (DNA directed), epsilon, catalytic subunit 1123 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 89 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) GCTCGAATATCAAAGTCTTGA 0.458000 DNA polymerases (catalytic subunits) 19 96 0 0 1 0 0 ADAM10 102 broad.mit.edu 37 15 58903248 58903248 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr15:58903248G>A ENST00000260408.3 - 13 2197 c.1754C>T c.(1753-1755)tCt>tTt p.S585F ADAM10_ENST00000402627.1_Intron|ADAM10_ENST00000396140.2_Missense_Mutation_p.S284F|ADAM10_ENST00000561288.1_Intron NM_001110.2 NP_001101.1 O14672 ADA10_HUMAN ADAM metallopeptidase domain 10 585 Cys-rich. cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3) 27 GBM - Glioblastoma multiforme(80;0.202) TTTGCCATCAGAACTGGCACA 0.333000 43 48 0 0 1 0 0 HDAC7 51564 broad.mit.edu 37 12 48190870 48190870 + Silent SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr12:48190870C>T ENST00000080059.7 - 7 632 c.633G>A c.(631-633)agG>agA p.R211R HDAC7_ENST00000380610.4_Silent_p.R228R|HDAC7_ENST00000552960.1_Silent_p.R194R|HDAC7_ENST00000354334.3_Silent_p.R211R|HDAC7_ENST00000427332.2_Silent_p.R172R NM_015401.3 NP_056216.2 Q8WUI4 HDAC7_HUMAN histone deacetylase 7 172 Transcription repression 1 (By similarity). negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent cytoplasm|histone deacetylase complex activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 GBM - Glioblastoma multiforme(48;0.137) GTGGATTCTTCCTCCGCTCCA 0.662000 17 16 0 0 1 0 0 TUT1 64852 broad.mit.edu 37 11 62343411 62343411 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr11:62343411G>A ENST00000476907.1 - 9 2471 c.1780C>T c.(1780-1782)Ctt>Ttt p.L594F MIR3654_ENST00000496634.2_Intron|TUT1_ENST00000308436.7_Missense_Mutation_p.L632F Q9H6E5 STPAP_HUMAN terminal uridylyl transferase 1, U6 snRNA-specific 594 mRNA cleavage|mRNA polyadenylation|snRNA processing nuclear speck|nucleolus ATP binding|enzyme binding|mRNA 3'-UTR binding|polynucleotide adenylyltransferase activity|RNA uridylyltransferase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 GGCTGCAGAAGAGGGAGCAGC 0.647000 15 30 0 0 1 0 0 STEAP2 261729 broad.mit.edu 37 7 89854429 89854429 + Missense_Mutation SNP G G C TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr7:89854429G>C ENST00000287908.3 + 2 426 c.33G>C c.(31-33)aaG>aaC p.K11N STEAP2_ENST00000402625.2_Missense_Mutation_p.K11N|STEAP2_ENST00000394626.1_Missense_Mutation_p.K11N|STEAP2_ENST00000394632.1_Missense_Mutation_p.K11N|STEAP2_ENST00000394629.2_Missense_Mutation_p.K11N|STEAP2_ENST00000394621.2_Missense_Mutation_p.K11N|STEAP2_ENST00000394622.2_Missense_Mutation_p.K11N NM_001244944.1|NM_152999.3 NP_001231873.1|NP_694544.2 Q8NFT2 STEA2_HUMAN STEAP family member 2, metalloreductase 11 electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1) 15 all_hematologic(106;0.112) GAAGCCCTAAGAGCCTTAGTG 0.403000 30 92 0 0 1 0 0 FIZ1 84922 broad.mit.edu 37 19 56103936 56103936 + Silent SNP G G C TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr19:56103936G>C ENST00000221665.3 - 3 1460 c.1371C>G c.(1369-1371)ctC>ctG p.L457L NM_032836.2 NP_116225.2 Q96SL8 FIZ1_HUMAN FLT3-interacting zinc finger 1 457 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein kinase binding|receptor binding|zinc ion binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5) 11 BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.107) GGTGGCGCTTGAGGTAGCACT 0.662000 4 11 0 0 1 0 0 MED13 9969 broad.mit.edu 37 17 60059808 60059808 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr17:60059808C>T ENST00000397786.2 - 16 3632 c.3556G>A c.(3556-3558)Gat>Aat p.D1186N NM_005121.2 NP_005112.2 Q9UHV7 MED13_HUMAN mediator complex subunit 13 1186 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 ATCAAATCATCAGATAATTTT 0.378000 36 50 0 0 1 0 0 MED13L 23389 broad.mit.edu 37 12 116446394 116446394 + Silent SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr12:116446394G>A ENST00000281928.3 - 10 2030 c.1824C>T c.(1822-1824)ctC>ctT p.L608L NM_015335.4 NP_056150.1 Q71F56 MD13L_HUMAN mediator complex subunit 13-like 608 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 85 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0407) CCTCTGCCATGAGAGGCAGTC 0.522000 11 27 0 0 1 0 0 GRIP2 80852 broad.mit.edu 37 3 14536401 14536401 + RNA SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr3:14536401C>T ENST00000273083.3 - 0 2984 Q9C0E4 GRIP2_HUMAN glutamate receptor interacting protein 2 synaptic transmission cytosol|plasma membrane protein binding endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 25 GCTGGCCCATCAGGGCGCACA 0.612000 67 27 0 0 1 0 0 ZNF808 388558 broad.mit.edu 37 19 53056704 53056704 + Nonsense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr19:53056704C>T ENST00000359798.4 + 5 715 c.535C>T c.(535-537)Caa>Taa p.Q179* NM_001039886.3 NP_001034975.2 Q8N4W9 ZN808_HUMAN zinc finger protein 808 179 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(8)|kidney(3)|lung(12)|urinary_tract(1) 24 OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213) AATTGCTAATCAACTTGAGAA 0.388000 38 141 0 0 1 0 0 C9orf3 84909 broad.mit.edu 37 9 97522235 97522235 + Missense_Mutation SNP A A G TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr9:97522235A>G ENST00000375315.2 + 1 170 c.170A>G c.(169-171)aAt>aGt p.N57S C9orf3_ENST00000297979.5_Missense_Mutation_p.N57S|C9orf3_ENST00000277198.2_Missense_Mutation_p.N57S NM_001193329.1 NP_001180258.1 Q8N6M6 AMPO_HUMAN chromosome 9 open reading frame 3 57 leukotriene biosynthetic process|proteolysis cytoplasm aminopeptidase activity|metallopeptidase activity|zinc ion binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(323;0.000275) AAGAAACAGAATAGCTCTATT 0.438000 15 26 0 0 1 0 0 INO80 54617 broad.mit.edu 37 15 41289748 41289748 + Silent SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr15:41289748G>A ENST00000361937.3 - 29 3973 c.3549C>T c.(3547-3549)atC>atT p.I1183I INO80_ENST00000401393.3_Silent_p.I1183I|INO80_ENST00000561244.1_5'UTR Q9ULG1 INO80_HUMAN INO80 complex subunit 1183 Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.|Helicase C-terminal. cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair Ino80 complex|microtubule actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 CAGTGAGATTGATACCCAGTC 0.383000 26 16 0 0 1 0 0 ACOX1 51 broad.mit.edu 37 17 73974761 73974761 + Silent SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr17:73974761C>T ENST00000537812.1 - 2 657 c.9G>A c.(7-9)ctG>ctA p.L3L ACOX1_ENST00000301608.4_Silent_p.L41L|ACOX1_ENST00000293217.5_Silent_p.L41L|ACOX1_ENST00000591857.1_5'UTR NM_001185039.1 NP_001171968.1 Q15067 ACOX1_HUMAN acyl-CoA oxidase 1, palmitoyl 41 fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process peroxisomal matrix acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1) 14 CTGGGTCGTTCAGGATCATGT 0.512000 19 56 0 0 1 0 0 EDN2 1907 broad.mit.edu 37 1 41946857 41946857 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr1:41946857C>T ENST00000372587.4 - 4 421 c.352G>A c.(352-354)Gcc>Acc p.A118T EDN2_ENST00000490783.1_5'UTR NM_001956.3 NP_001947.1 P20800 EDN2_HUMAN endothelin 2 118 artery smooth muscle contraction|calcium-mediated signaling|cytokine-mediated signaling pathway|elevation of cytosolic calcium ion concentration|hormonal regulation of the force of heart contraction|inositol phosphate-mediated signaling|macrophage activation|macrophage chemotaxis|neutrophil chemotaxis|positive regulation of cell proliferation|positive regulation of heart rate|positive regulation of leukocyte chemotaxis|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of the force of heart contraction by chemical signal|prostaglandin biosynthetic process|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction extracellular space endothelin B receptor binding|hormone activity endometrium(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 8 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) ACTGCCCCGGCTTCAGTCCTA 0.637000 11 35 0 0 1 0 0 CSTF2T 23283 broad.mit.edu 37 10 53459151 53459151 + Silent SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr10:53459151C>T ENST00000331173.4 - 1 204 c.159G>A c.(157-159)acG>acA p.T53T PRKG1_ENST00000373980.4_Intron|PRKG1_ENST00000373985.1_Intron|PRKG1_ENST00000401604.2_Intron NM_015235.2 NP_056050.1 Q9H0L4 CSTFT_HUMAN cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant 53 RRM. mRNA processing nucleus nucleotide binding|RNA binding NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122) TGGGTTTTCCCGTCTCTCTAT 0.532000 25 65 0 0 1 0 0 KCNA7 3743 broad.mit.edu 37 19 49575432 49575432 + Missense_Mutation SNP C C G TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr19:49575432C>G ENST00000221444.1 - 1 766 c.411G>C c.(409-411)gaG>gaC p.E137D NM_031886.2 NP_114092.2 Q96RP8 KCNA7_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 7 137 voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2) 11 all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441) CCTGAGAGCTCTCGGGAAACT 0.711000 6 51 0 0 1 0 0 NPAS2 4862 broad.mit.edu 37 2 101598812 101598812 + Silent SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr2:101598812C>T ENST00000335681.5 + 16 1887 c.1602C>T c.(1600-1602)ctC>ctT p.L534L NPAS2_ENST00000542504.1_Silent_p.L599L NM_002518.3 NP_002509.2 Q99743 NPAS2_HUMAN neuronal PAS domain protein 2 534 central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process transcription factor complex DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 AGGAGCAGCTCTGCCTGGTCC 0.622000 5 36 0 0 1 0 0 MUC20 200958 broad.mit.edu 37 3 195453358 195453358 + Silent SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr3:195453358C>T ENST00000320736.6 + 3 1497 c.1371C>T c.(1369-1371)atC>atT p.I457I MUC20_ENST00000447234.2_Silent_p.I628I|MUC20_ENST00000436408.1_Silent_p.I628I|MUC20_ENST00000445522.2_Silent_p.I593I Q8N307 MUC20_HUMAN mucin 20, cell surface associated 628 Involved in oligomerization. protein homooligomerization apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1) 23 all_cancers(143;1.8e-08)|Ovarian(172;0.0634) Lung NSC(153;0.191) Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128) GBM - Glioblastoma multiforme(46;1.66e-05) TAGCCAAGATCACAACCTCAG 0.622000 24 52 0 0 1 0 0 SHOC2 8036 broad.mit.edu 37 10 112724252 112724252 + Nonsense_Mutation SNP A A T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr10:112724252A>T ENST00000369452.4 + 2 481 c.136A>T c.(136-138)Aaa>Taa p.K46* SHOC2_ENST00000489390.1_Intron|SHOC2_ENST00000265277.5_Nonsense_Mutation_p.K46* NM_007373.3 NP_031399.2 Q9UQ13 SHOC2_HUMAN soc-2 suppressor of clear homolog (C. elegans) 46 fibroblast growth factor receptor signaling pathway|positive regulation of Ras protein signal transduction|Ras protein signal transduction nucleus|protein phosphatase type 1 complex protein phosphatase binding|protein phosphatase regulator activity breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2) 17 Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126) ACCTAAGACCAAAGGGAAAGA 0.468000 10 26 0 0 1 0 0 SPTY2D1 144108 broad.mit.edu 37 11 18637196 18637196 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr11:18637196C>T ENST00000336349.5 - 3 860 c.625G>A c.(625-627)Gaa>Aaa p.E209K NM_194285.2 NP_919261.2 Q68D10 SPT2_HUMAN SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae) 209 breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1) 30 TGCTTTCGTTCAAGGAATTCT 0.438000 43 109 0 0 1 0 0 TPM4 7171 broad.mit.edu 37 19 16178467 16178467 + Silent SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr19:16178467G>A ENST00000538887.1 + 1 120 c.33G>A c.(31-33)ctG>ctA p.L11L TPM4_ENST00000344824.6_Silent_p.L11L P67936 TPM4_HUMAN tropomyosin 4 136 cellular component movement|muscle filament sliding|response to oxidative stress cytosol|muscle thin filament tropomyosin|stress fiber actin binding|calcium ion binding|structural constituent of muscle TPM4/ALK(12) breast(1)|large_intestine(3) 4 TGCAGATGCTGAAGTTGGACA 0.657000 T ALK ALCL 18 41 0 0 1 0 0 TRBV6-1 28606 broad.mit.edu 37 7 142028551 142028551 + RNA SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr7:142028551C>T ENST00000390353.2 + 0 342 AGTTCTCGCTCAGGCTGGAGT 0.527000 66 69 0 0 1 0 0 MFF 56947 broad.mit.edu 37 2 228207527 228207527 + Silent SNP G G C TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr2:228207527G>C ENST00000353339.3 + 7 1026 c.585G>C c.(583-585)ccG>ccC p.P195P MFF_ENST00000354503.6_Intron|MFF_ENST00000409616.1_Intron|MFF_ENST00000409565.1_Intron|MFF_ENST00000524634.1_Intron|MFF_ENST00000392059.1_Silent_p.P195P|MFF_ENST00000476924.1_Intron|MFF_ENST00000349901.7_Intron|MFF_ENST00000304593.9_Intron|MFF_ENST00000337110.7_Silent_p.P169P NM_001277061.1 NP_001263990.1 Q9GZY8 MFF_HUMAN mitochondrial fission factor 195 integral to membrane|mitochondrial outer membrane breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2) 21 TTTCTGCACCGGAGTACACGT 0.348000 51 50 0 0 1 0 0 PCSK6 5046 broad.mit.edu 37 15 101938652 101938652 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr15:101938652G>A ENST00000348070.1 - 8 949 c.950C>T c.(949-951)cCc>cTc p.P317L PCSK6_ENST00000398181.2_Missense_Mutation_p.P317L|PCSK6_ENST00000358417.3_Missense_Mutation_p.P317L|PCSK6_ENST00000344273.2_Missense_Mutation_p.P317L|PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000331826.7_Missense_Mutation_p.P152L NM_002570.3|NM_138320.1 NP_002561.1|NP_612193.1 P29122 PCSK6_HUMAN proprotein convertase subtilisin/kexin type 6 318 Catalytic. glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) CAGTCGGCCGGGCCCGTCCAC 0.577000 20 64 0 0 1 0 0 SMARCA2 6595 broad.mit.edu 37 9 2058337 2058337 + Missense_Mutation SNP A A G TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr9:2058337A>G ENST00000382203.1 + 8 1603 c.1394A>G c.(1393-1395)tAt>tGt p.Y465C SMARCA2_ENST00000349721.2_Missense_Mutation_p.Y465C|SMARCA2_ENST00000357248.2_Missense_Mutation_p.Y465C|SMARCA2_ENST00000382194.1_Missense_Mutation_p.Y465C P51531 SMCA2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 465 HSA. chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) TTTAAGGAATATCATCGGTCT 0.428000 38 52 0 0 1 0 0 OXR1 55074 broad.mit.edu 37 8 107718694 107718694 + Missense_Mutation SNP C C G TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr8:107718694C>G ENST00000445937.1 + 9 1206 c.945C>G c.(943-945)atC>atG p.I315M OXR1_ENST00000442977.2_Missense_Mutation_p.I316M|OXR1_ENST00000531443.1_Missense_Mutation_p.I315M|OXR1_ENST00000517566.2_Missense_Mutation_p.I315M|OXR1_ENST00000312046.6_Missense_Mutation_p.I308M|OXR1_ENST00000497705.1_Missense_Mutation_p.I248M|OXR1_ENST00000452423.2_5'UTR NM_018002.3 NP_060472.2 Q8N573 OXR1_HUMAN oxidation resistance 1 316 cell wall macromolecule catabolic process|response to oxidative stress mitochondrion NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 31 OV - Ovarian serous cystadenocarcinoma(57;1.81e-09) ACTCAAGAATCCGAGATGCAG 0.423000 6 69 0 0 1 0 0 MALAT1 378938 broad.mit.edu 37 11 65268709 65268709 + RNA SNP G G C TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr11:65268709G>C ENST00000534336.1 + 0 3477 NR_002819.2 TTTTTTGTGGGGGTGGGGGCA 0.393000 8 48 0 0 1 0 0 C20orf201 198437 broad.mit.edu 37 20 62714779 62714779 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr20:62714779C>T ENST00000308906.2 - 2 821 c.682G>A c.(682-684)Gag>Aag p.E228K OPRL1_ENST00000355631.4_Intron|OPRL1_ENST00000336866.2_Intron|C20orf201_ENST00000302096.4_3'UTR NM_001007125.1 NP_001007126.1 Q8TD35 CT201_HUMAN chromosome 20 open reading frame 201 38 CGCACACTCTCAGTCGCCGTC 0.647000 6 14 0 0 1 0 0 CXCL1 2919 broad.mit.edu 37 4 74735502 74735502 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr4:74735502G>A ENST00000395761.3 + 2 284 c.217G>A c.(217-219)Gaa>Aaa p.E73K CXCL1_ENST00000509101.1_3'UTR NM_001511.3 NP_001502.1 P09341 GROA_HUMAN chemokine (C-X-C motif) ligand 1 (melanoma growth stimulating activity, alpha) 73 actin cytoskeleton organization|cell proliferation|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|intracellular signal transduction|negative regulation of cell proliferation|nervous system development extracellular space|intracellular chemokine activity|enzyme activator activity|growth factor activity lung(2) 2 Breast(15;0.00102) all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187) CGCCCAAACCGAAGTCATGTA 0.652000 16 57 0 0 1 0 0 FMO2 2327 broad.mit.edu 37 1 171168542 171168542 + Missense_Mutation SNP G G C TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr1:171168542G>C ENST00000441535.1 + 5 659 c.542G>C c.(541-543)gGa>gCa p.G181A FMO2_ENST00000529935.1_Intron|RP1-127D3.4_ENST00000445290.1_RNA|FMO2_ENST00000209929.7_Missense_Mutation_p.G181A|RP1-127D3.4_ENST00000422841.1_RNA|RP1-127D3.4_ENST00000445909.1_RNA NM_001460.2 NP_001451.1 Q99518 FMO2_HUMAN flavin containing monooxygenase 2 (non-functional) 181 drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1) 22 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) CATCCAGATGGATTTGAGGGA 0.483000 5 117 0 0 1 0 0 EIF2AK4 440275 broad.mit.edu 37 15 40265857 40265857 + Silent SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr15:40265857C>T ENST00000263791.5 + 11 1768 c.1725C>T c.(1723-1725)ttC>ttT p.F575F EIF2AK4_ENST00000382727.2_Silent_p.F575F|EIF2AK4_ENST00000559624.1_Silent_p.F575F NM_001013703.2 NP_001013725.2 Q9P2K8 E2AK4_HUMAN eukaryotic translation initiation factor 2 alpha kinase 4 575 translation cytosolic ribosome aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1) 40 all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616) GTGCTGCCTTCTTTAGTGAGA 0.433000 61 63 0 0 1 0 0 BAG2 9532 broad.mit.edu 37 6 57037562 57037562 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr6:57037562G>A ENST00000370693.5 + 1 439 c.67G>A c.(67-69)Gac>Aac p.D23N RP11-203B9.4_ENST00000585414.1_RNA|RP11-203B9.4_ENST00000609545.1_RNA NM_004282.3 NP_004273.1 O95816 BAG2_HUMAN BCL2-associated athanogene 2 23 apoptosis|protein folding protein binding endometrium(1)|large_intestine(1) 2 Lung NSC(77;0.126) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) CTCCATGGCTGACCGCTCCAG 0.687000 7 11 0 0 1 0 0 C10orf71 118461 broad.mit.edu 37 10 50532657 50532657 + Missense_Mutation SNP G G C TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr10:50532657G>C ENST00000374144.3 + 3 2355 c.2067G>C c.(2065-2067)caG>caC p.Q689H C10orf71_ENST00000323868.4_Missense_Mutation_p.Q689H Q711Q0 CJ071_HUMAN chromosome 10 open reading frame 71 689 p.Q689Q(2) endometrium(1) 1 CAGGACTTCAGAACACACATT 0.502000 11 31 0 0 1 0 0 BPTF 2186 broad.mit.edu 37 17 65908875 65908875 + Silent SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr17:65908875C>T ENST00000321892.4 + 13 5314 c.5253C>T c.(5251-5253)gtC>gtT p.V1751V BPTF_ENST00000424123.3_Silent_p.V1612V|BPTF_ENST00000335221.5_Silent_p.V1751V|BPTF_ENST00000306378.6_Silent_p.V1625V Q12830 BPTF_HUMAN bromodomain PHD finger transcription factor 1751 Thr-rich. brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NURF complex sequence-specific DNA binding|transcription factor binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 all_cancers(12;6e-11) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24) AATCCACTGTCACAACCACCA 0.478000 11 47 0 0 1 0 0 EEF1A1 1915 broad.mit.edu 37 6 74227625 74227625 + Missense_Mutation SNP C C A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr6:74227625C>A ENST00000316292.9 - 7 2288 c.1297G>T c.(1297-1299)Gtt>Ttt p.V433F EEF1A1_ENST00000491404.1_Intron|EEF1A1_ENST00000331523.2_Missense_Mutation_p.V433F|EEF1A1_ENST00000309268.6_Missense_Mutation_p.V433F NM_001402.5 NP_001393.1 P68104 EF1A1_HUMAN eukaryotic translation elongation factor 1 alpha 1 433 cytosol|eukaryotic translation elongation factor 1 complex GTP binding|GTPase activity|protein binding|translation elongation factor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3) 18 CCCACCGCAACTGTCTGTCTC 0.408000 OREG0003893 type=REGULATORY REGION|Gene=BC038897|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 15 42 5.35267e-07 5.47144e-07 1 1 0 RP11-252A24.2 0 broad.mit.edu 37 16 74387751 74387751 + RNA SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr16:74387751C>T ENST00000429810.2 - 0 492 GCTCAATGGTCAAGTGCCTGG 0.478000 6 71 0 0 1 0 0 PODXL 5420 broad.mit.edu 37 7 131191392 131191392 + Silent SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr7:131191392G>A ENST00000541194.1 - 6 1458 c.1201C>T c.(1201-1203)Ctg>Ttg p.L401L PODXL_ENST00000378555.3_Silent_p.L399L|PODXL_ENST00000322985.9_Silent_p.L367L|PODXL_ENST00000537928.1_Silent_p.L367L NM_001018111.2 NP_001018121.1 O00592 PODXL_HUMAN podocalyxin-like 399 cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 24 Melanoma(18;0.162) ACAGATGCCAGCCGTATGCCG 0.572000 OREG0018320 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 119 0 0 1 0 0 LAMA3 3909 broad.mit.edu 37 18 21437843 21437843 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr18:21437843G>A ENST00000313654.9 + 33 4413 c.4172G>A c.(4171-4173)cGa>cAa p.R1391Q LAMA3_ENST00000399516.3_Missense_Mutation_p.R1391Q NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 1391 Domain III B.|Laminin EGF-like 11. 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) CAGTGTGACCGATGTGCTTCC 0.498000 96 50 0 0 1 0 0 EPHA8 2046 broad.mit.edu 37 1 22903359 22903359 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr1:22903359G>A ENST00000166244.3 + 3 881 c.809G>A c.(808-810)cGg>cAg p.R270Q EPHA8_ENST00000538803.1_Missense_Mutation_p.R270Q|EPHA8_ENST00000374644.4_Missense_Mutation_p.R270Q NM_020526.3 NP_065387.1 P29322 EPHA8_HUMAN EPH receptor A8 270 Cys-rich. integral to plasma membrane ATP binding|ephrin receptor activity breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 61 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) GAGGAGCGGCGGGATGCCTGT 0.677000 4 21 0 0 1 0 0 ZFP37 7539 broad.mit.edu 37 9 115818939 115818939 + Silent SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr9:115818939C>T ENST00000374227.3 - 1 57 c.30G>A c.(28-30)ctG>ctA p.L10L ZFP37_ENST00000555206.1_Silent_p.L10L|ZFP37_ENST00000553380.1_Silent_p.L10L NM_001282515.1|NM_001282518.1 NP_001269444.1|NP_001269447.1 Q9Y6Q3 ZFP37_HUMAN ZFP37 zinc finger protein 10 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 38 CTGGCTTTGTCAGAATCTGGA 0.682000 39 9 0 0 1 0 0 TUBGCP6 85378 broad.mit.edu 37 22 50660232 50660232 + Silent SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr22:50660232C>T ENST00000439308.2 - 16 3048 c.2556G>A c.(2554-2556)tcG>tcA p.S852S TUBGCP6_ENST00000248846.5_Silent_p.S852S|TUBGCP6_ENST00000491449.1_5'UTR NM_020461.3 NP_065194.2 Q96RT7 GCP6_HUMAN tubulin, gamma complex associated protein 6 852 G2/M transition of mitotic cell cycle|microtubule nucleation centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole microtubule binding breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2) 45 all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21) CCCAGGCAGGCGAGTGTTGCT 0.652000 6 13 0 0 1 0 0 TRAPPC11 60684 broad.mit.edu 37 4 184612496 184612496 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr4:184612496G>A ENST00000334690.6 + 19 2123 c.1921G>A c.(1921-1923)Gaa>Aaa p.E641K TRAPPC11_ENST00000357207.4_Missense_Mutation_p.E641K|TRAPPC11_ENST00000512476.1_Missense_Mutation_p.E247K NM_021942.5 NP_068761.4 Q7Z392 CD041_HUMAN trafficking protein particle complex 11 641 TGTAATAGAAGAAGCATCCAA 0.383000 28 24 0 0 1 0 0 UBXN4 23190 broad.mit.edu 37 2 136511779 136511779 + Missense_Mutation SNP C C G TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr2:136511779C>G ENST00000272638.9 + 4 576 c.265C>G c.(265-267)Ccc>Gcc p.P89A UBXN4_ENST00000490163.1_3'UTR NM_014607.3 NP_055422.1 Q92575 UBXN4_HUMAN UBX domain protein 4 89 response to unfolded protein endoplasmic reticulum membrane|nuclear envelope protein binding NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 24 CAGTGGAATTCCCTTGGAAGT 0.388000 10 84 0 0 1 0 0 IGSF22 283284 broad.mit.edu 37 11 18735591 18735591 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr11:18735591G>A ENST00000513874.1 - 14 2042 c.1903C>T c.(1903-1905)Cca>Tca p.P635S RP11-1081L13.4_ENST00000527285.1_RNA NM_173588.3 NP_775859 Q8N9C0 IGS22_HUMAN immunoglobulin superfamily, member 22 635 Ig-like 4. p.P635T(2) NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3) 56 TTGGGCAGTGGTTTTCCCCGG 0.602000 19 40 0 0 1 0 0 ZNF250 58500 broad.mit.edu 37 8 146107371 146107371 + Silent SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr8:146107371G>A ENST00000292579.7 - 6 1328 c.1212C>T c.(1210-1212)ttC>ttT p.F404F ZNF250_ENST00000417550.2_Silent_p.F399F|ZNF250_ENST00000543949.1_Intron|ZNF250_ENST00000342660.6_Intron NM_001109689.3|NM_021061.4 NP_001103159.1|NP_066405.1 P15622 ZN250_HUMAN zinc finger protein 250 404 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(2)|lung(8)|skin(1) 15 all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055) GBM - Glioblastoma multiforme(99;0.0654) AGCGGTGGCTGAAGGTCTTCC 0.572000 11 35 0 0 1 0 0 ZNF516 9658 broad.mit.edu 37 18 74153881 74153881 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr18:74153881G>A ENST00000443185.2 - 3 1447 c.1130C>T c.(1129-1131)tCg>tTg p.S377L ZNF516_ENST00000524431.2_5'UTR NM_014643.3 NP_055458.1 Q92618 ZN516_HUMAN zinc finger protein 516 377 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Prostate(75;0.0869)|Esophageal squamous(42;0.129) OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238) CTTGGTGTCCGAGGGCCCCTC 0.701000 5 19 0 0 1 0 0 PALD1 27143 broad.mit.edu 37 10 72292491 72292491 + Missense_Mutation SNP A A G rs141669123 TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr10:72292491A>G ENST00000263563.6 + 6 1016 c.748A>G c.(748-750)Acg>Gcg p.T250A NM_014431.2 NP_055246.2 phosphatase domain containing, paladin 1 CTTGCATGTGACGGAGGAGGT 0.627000 24 73 0 0 1 0 0 SLC12A6 9990 broad.mit.edu 37 15 34549913 34549913 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr15:34549913C>T ENST00000354181.3 - 6 1112 c.620G>A c.(619-621)cGc>cAc p.R207H SLC12A6_ENST00000558667.1_Missense_Mutation_p.R207H|SLC12A6_ENST00000560164.1_Intron|SLC12A6_ENST00000397702.2_Missense_Mutation_p.R148H|SLC12A6_ENST00000560611.1_Missense_Mutation_p.R207H|SLC12A6_ENST00000558589.1_Missense_Mutation_p.R198H|SLC12A6_ENST00000451844.2_Intron|SLC12A6_ENST00000290209.5_Missense_Mutation_p.R156H|RP11-1084A12.2_ENST00000559867.1_RNA|SLC12A6_ENST00000397707.2_Missense_Mutation_p.R192H|SLC12A6_ENST00000458406.2_Missense_Mutation_p.R148H Q9UHW9 S12A6_HUMAN solute carrier family 12 (potassium/chloride transporter), member 6 207 angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport basolateral plasma membrane|integral to membrane potassium:chloride symporter activity central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3) 45 all_lung(180;2.78e-08) all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301) Potassium Chloride(DB00761) CCATGTAAGGCGTAAAAAAAG 0.448000 8 21 0 0 1 0 0 USP33 23032 broad.mit.edu 37 1 78163129 78163129 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr1:78163129G>A ENST00000370793.1 - 25 3048 c.2702C>T c.(2701-2703)aCa>aTa p.T901I USP33_ENST00000370794.3_Missense_Mutation_p.T870I|USP33_ENST00000357428.1_Missense_Mutation_p.T901I NM_015017.4 NP_055832.3 Q8TEY7 UBP33_HUMAN ubiquitin specific peptidase 33 901 DUSP 2. axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm|VCB complex cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1) 44 AAAATTCCATGTTTCTTCAGA 0.363000 10 110 0 0 1 0 0 ARHGEF17 9828 broad.mit.edu 37 11 73067326 73067326 + Missense_Mutation SNP G G C TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr11:73067326G>C ENST00000263674.3 + 6 4120 c.3770G>C c.(3769-3771)aGt>aCt p.S1257T NM_014786.3 NP_055601.2 Q96PE2 ARHGH_HUMAN Rho guanine nucleotide exchange factor (GEF) 17 1257 actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2) 32 GGTGTGCGGAGTGCCGAGGAG 0.647000 9 15 0 0 1 0 0 PSIP1 11168 broad.mit.edu 37 9 15468757 15468757 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr9:15468757C>T ENST00000380733.4 - 14 1634 c.1291G>A c.(1291-1293)Gaa>Aaa p.E431K PSIP1_ENST00000380738.4_Missense_Mutation_p.E431K O75475 PSIP1_HUMAN PC4 and SFRS1 interacting protein 1 431 initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1) 9 GBM - Glioblastoma multiforme(50;2.38e-06) GAATCTCCTTCACCAACCAAG 0.388000 45 10 0 0 1 0 0 PCDHB14 56122 broad.mit.edu 37 5 140604149 140604149 + Missense_Mutation SNP G G C TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr5:140604149G>C ENST00000239449.4 + 1 1072 c.1072G>C c.(1072-1074)Gag>Cag p.E358Q PCDHB14_ENST00000515856.2_Missense_Mutation_p.E205Q NM_018934.2 NP_061757.1 Q9Y5E9 PCDBE_HUMAN 358 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GAGAATTCCAGAGAATGCCTC 0.423000 5 70 0 0 1 0 0 AIFM1 9131 broad.mit.edu 37 X 129281744 129281744 + Silent SNP G G T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chrX:129281744G>T ENST00000287295.3 - 4 687 c.457C>A c.(457-459)Cgg>Agg p.R153R AIFM1_ENST00000346424.2_Intron|AIFM1_ENST00000319908.3_Silent_p.R149R|AIFM1_ENST00000535724.1_Silent_p.R66R NM_001130847.3|NM_004208.3 NP_001124319.1|NP_004199.1 O95831 AIFM1_HUMAN apoptosis-inducing factor, mitochondrion-associated, 1 153 FAD-dependent oxidoreductase (By similarity). activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1) 30 CCAGGATCCCGAGCCCGGATG 0.517000 62 7 1.12357e-39 1.19998e-39 1 1 0 NAV3 89795 broad.mit.edu 37 12 78400290 78400290 + Silent SNP T T G TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr12:78400290T>G ENST00000397909.2 + 8 1145 c.972T>G c.(970-972)ccT>ccG p.P324P NAV3_ENST00000228327.6_Silent_p.P324P|NAV3_ENST00000266692.7_Silent_p.P324P|NAV3_ENST00000536525.2_Silent_p.P324P Q8IVL0 NAV3_HUMAN neuron navigator 3 324 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 CTGCCATCCCTTCTCCAAGTG 0.537000 HNSCC(70;0.22) 5 39 0 0 1 0 0 ICA1 3382 broad.mit.edu 37 7 8275637 8275637 + Splice_Site SNP T T G TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr7:8275637T>G ENST00000402384.3 - 2 188 c.e2-2 ICA1_ENST00000401396.1_Splice_Site|ICA1_ENST00000406470.2_Splice_Site|ICA1_ENST00000407906.1_Splice_Site|ICA1_ENST00000265577.7_Splice_Site|ICA1_ENST00000396675.3_Intron Q05084 ICA69_HUMAN islet cell autoantigen 1, 69kDa neurotransmitter transport cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1) 23 Ovarian(82;0.0612) UCEC - Uterine corpus endometrioid carcinoma (126;0.246) TATTATAACCTGAAATAAAAC 0.323000 18 18 0 0 1 0 0 ZYG11B 79699 broad.mit.edu 37 1 53237265 53237265 + Missense_Mutation SNP G G C TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr1:53237265G>C ENST00000294353.6 + 3 915 c.770G>C c.(769-771)cGc>cCc p.R257P ZYG11B_ENST00000545132.1_Missense_Mutation_p.R257P|ZYG11B_ENST00000443756.2_Missense_Mutation_p.R257P NM_024646.2 NP_078922.1 Q9C0D3 ZY11B_HUMAN zyg-11 family member B, cell cycle regulator 257 protein binding breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 30 ATAGCTCTTCGCTTACTAGAA 0.393000 14 50 0 0 1 0 0 AMN 81693 broad.mit.edu 37 14 103395119 103395119 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr14:103395119C>T ENST00000299155.5 + 5 353 c.320C>T c.(319-321)tCt>tTt p.S107F NM_030943.3 NP_112205.2 Q9BXJ7 AMNLS_HUMAN amnion associated transmembrane protein 107 lipid metabolic process|lipoprotein metabolic process|multicellular organismal development integral to membrane|plasma membrane kidney(2)|large_intestine(1)|lung(2)|skin(1) 6 Colorectal(3;0.00739)|READ - Rectum adenocarcinoma(2;0.0336)|Epithelial(152;0.0363)|all cancers(159;0.147) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) TTCCGCGACTCTGACCGCTTC 0.706000 4 15 0 0 1 0 0 OLFM3 118427 broad.mit.edu 37 1 102312425 102312425 + Silent SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr1:102312425C>T ENST00000338858.5 - 1 104 c.105G>A c.(103-105)acG>acA p.T35T OLFM3_ENST00000359814.3_Silent_p.T35T|OLFM3_ENST00000462354.1_Intron|OLFM3_ENST00000370103.4_Intron Q96PB7 NOE3_HUMAN olfactomedin 3 35 extracellular region breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2) 43 all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189) all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145) TCGACAGCCTCGTGGTGTTCA 0.493000 10 55 0 0 1 0 0 PIK3C2B 5287 broad.mit.edu 37 1 204413530 204413530 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr1:204413530G>A ENST00000367187.3 - 18 3257 c.2701C>T c.(2701-2703)Cgt>Tgt p.R901C PIK3C2B_ENST00000424712.2_Missense_Mutation_p.R873C NM_002646.3 NP_002637.3 O00750 P3C2B_HUMAN phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta 901 cell communication|phosphatidylinositol-mediated signaling endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 52 all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193) ACAGCCATACGACGCACCTCC 0.587000 10 12 0 0 1 0 0 ADAM21 8747 broad.mit.edu 37 14 70924812 70924812 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr14:70924812C>T ENST00000603540.1 + 2 854 c.596C>T c.(595-597)tCt>tTt p.S199F ADAM21_ENST00000267499.3_Missense_Mutation_p.S199F|RP11-486O13.4_ENST00000556646.1_lincRNA NM_003813.3 NP_003804.2 Q9UKJ8 ADA21_HUMAN ADAM metallopeptidase domain 21 199 proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 31 all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) GAACCAAAATCTGCTGGTGAC 0.448000 4 34 0 0 1 0 0 TSSK6 83983 broad.mit.edu 37 19 19626177 19626177 + Missense_Mutation SNP C C G TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr19:19626177C>G ENST00000360913.3 - 1 661 c.60G>C c.(58-60)gaG>gaC p.E20D TSSK6_ENST00000585580.3_Missense_Mutation_p.E20D Q9BXA6 TSSK6_HUMAN testis-specific serine kinase 6 20 Protein kinase. multicellular organismal development|sperm chromatin condensation ATP binding|magnesium ion binding|protein serine/threonine kinase activity endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 16 AGTAGCTGCCCTCTCCAATTG 0.632000 31 79 0 0 1 0 0 SPTY2D1 144108 broad.mit.edu 37 11 18637102 18637102 + Missense_Mutation SNP G G C TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr11:18637102G>C ENST00000336349.5 - 3 954 c.719C>G c.(718-720)aCa>aGa p.T240R NM_194285.2 NP_919261.2 Q68D10 SPT2_HUMAN SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae) 240 breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1) 30 GCTAAGTTTTGTGCCCACACT 0.448000 47 119 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 21042571 21042571 + Silent SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr16:21042571G>A ENST00000261383.3 - 37 5234 c.5235C>T c.(5233-5235)atC>atT p.I1745I DNAH3_ENST00000415178.1_Silent_p.I1745I NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 1745 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) TGGGGTTGATGATCTTGTACT 0.512000 9 36 0 0 1 0 0 CSRNP2 81566 broad.mit.edu 37 12 51467833 51467833 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr12:51467833G>A ENST00000228515.1 - 3 481 c.184C>T c.(184-186)Cgg>Tgg p.R62W NM_030809.2 NP_110436.1 Q9H175 CSRN2_HUMAN cysteine-serine-rich nuclear protein 2 62 apoptosis|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1) 14 TTCTTCCTCCGCAGCTGCTTC 0.488000 13 48 0 0 1 0 0 BRD1 23774 broad.mit.edu 37 22 50169371 50169371 + Missense_Mutation SNP C C A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr22:50169371C>A ENST00000216267.8 - 11 3347 c.2861G>T c.(2860-2862)cGt>cTt p.R954L BRD1_ENST00000404760.1_Missense_Mutation_p.R1085L|BRD1_ENST00000542442.1_Missense_Mutation_p.R642L|BRD1_ENST00000342989.5_Missense_Mutation_p.R680L|BRD1_ENST00000457780.2_3'UTR|BRD1_ENST00000404034.1_Missense_Mutation_p.R954L NM_014577.1 NP_055392.1 O95696 BRD1_HUMAN bromodomain containing 1 954 PWWP. histone H3 acetylation MOZ/MORF histone acetyltransferase complex zinc ion binding endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1) 37 all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21) GCCAGGCACACGGGGCATCTT 0.612000 41 34 1.23103e-26 1.30868e-26 1 1 0 CREB3L4 148327 broad.mit.edu 37 1 153946367 153946367 + Silent SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr1:153946367G>A ENST00000368607.3 + 10 1280 c.1014G>A c.(1012-1014)ctG>ctA p.L338L CREB3L4_ENST00000368600.3_Silent_p.L318L|CREB3L4_ENST00000405694.3_Silent_p.L191L|CREB3L4_ENST00000368603.1_Silent_p.L338L|CREB3L4_ENST00000271889.4_Silent_p.L338L|CREB3L4_ENST00000468845.1_3'UTR NM_001255978.1|NM_001255980.1|NM_130898.3 NP_001242907.1|NP_001242909.1|NP_570968.1 Q8TEY5 CR3L4_HUMAN cAMP responsive element binding protein 3-like 4 338 Cleavage; by PS1 (By similarity). response to unfolded protein endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(3) 13 all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) GAAATATCCTGACCCACAAGG 0.547000 4 21 0 0 1 0 0 MS4A14 84689 broad.mit.edu 37 11 60170419 60170419 + Missense_Mutation SNP C C G TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr11:60170419C>G ENST00000300187.6 + 4 630 c.353C>G c.(352-354)tCc>tGc p.S118C MS4A14_ENST00000395001.1_Missense_Mutation_p.S6C|MS4A14_ENST00000531783.1_Missense_Mutation_p.S118C|MS4A14_ENST00000531787.1_Missense_Mutation_p.S6C|MS4A14_ENST00000395005.2_Missense_Mutation_p.S101C NM_032597.4 NP_115986.3 Q96JA4 M4A14_HUMAN membrane-spanning 4-domains, subfamily A, member 14 118 integral to membrane receptor activity autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 62 GTTATCAGCTCCTTGGTTGCG 0.368000 30 79 0 0 1 0 0 ENTHD1 150350 broad.mit.edu 37 22 40161511 40161511 + Silent SNP G G C TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr22:40161511G>C ENST00000325157.6 - 6 1186 c.936C>G c.(934-936)ctC>ctG p.L312L NM_152512.3 NP_689725.2 Q8IYW4 ENTD1_HUMAN ENTH domain containing 1 312 breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3) 32 Melanoma(58;0.0749) GTGTTTCCAAGAGGTTTTCTG 0.413000 23 82 0 0 1 0 0 GTF3C5 9328 broad.mit.edu 37 9 135906452 135906452 + Silent SNP G G C TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr9:135906452G>C ENST00000372097.5 + 1 377 c.54G>C c.(52-54)ctG>ctC p.L18L GTF3C5_ENST00000372095.5_5'UTR|GTF3C5_ENST00000485692.1_3'UTR|GTF3C5_ENST00000372099.6_Silent_p.L18L|GTF3C5_ENST00000372108.5_Silent_p.L18L|GTF3C5_ENST00000342018.8_Silent_p.L18L NM_012087.3 NP_036219.2 Q9Y5Q8 TF3C5_HUMAN general transcription factor IIIC, polypeptide 5, 63kDa 18 transcription factor TFIIIC complex DNA binding|protein binding endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1) 21 OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05) CCGTGGAGCTGAGGCGGGAGC 0.706000 3 7 0 0 1 0 0 SPAG4 6676 broad.mit.edu 37 20 34208866 34208866 + Silent SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr20:34208866C>T ENST00000374273.3 + 12 1348 c.1236C>T c.(1234-1236)ttC>ttT p.F412F NM_003116.1 NP_003107.1 Q9NPE6 SPAG4_HUMAN sperm associated antigen 4 412 SUN. spermatogenesis cilium|flagellar axoneme|integral to membrane structural molecule activity NS(1)|cervix(5)|kidney(1)|large_intestine(3)|lung(10)|ovary(1) 21 Lung NSC(9;0.0053)|all_lung(11;0.00785) BRCA - Breast invasive adenocarcinoma(18;0.0127) ACCCCCGTTTCACGTGCTTGT 0.567000 22 64 0 0 1 0 0 FRMD6 122786 broad.mit.edu 37 14 52187055 52187055 + Nonsense_Mutation SNP C C G TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr14:52187055C>G ENST00000395718.2 + 11 1568 c.1283C>G c.(1282-1284)tCa>tGa p.S428* FRMD6_ENST00000344768.5_Nonsense_Mutation_p.S436*|FRMD6_ENST00000554167.1_Nonsense_Mutation_p.S359*|FRMD6_ENST00000356218.4_Nonsense_Mutation_p.S428*|FRMD6_ENST00000553556.1_Nonsense_Mutation_p.S78* NM_001267046.1|NM_152330.3 NP_001253975.1|NP_689543.1 Q96NE9 FRMD6_HUMAN FERM domain containing 6 436 cytoskeleton|mitochondrion|plasma membrane binding breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 all_epithelial(31;0.0163)|Breast(41;0.089) TCCCACACCTCAGGGGTGGAG 0.582000 7 21 0 0 1 0 0 PKD1L2 114780 broad.mit.edu 37 16 81241216 81241216 + RNA SNP T T G TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr16:81241216T>G ENST00000337114.4 - 0 784 PKD1L2_ENST00000525539.1_RNA NM_001076780.1 NP_001070248.1 Q7Z442 PK1L2_HUMAN polycystic kidney disease 1-like 2 neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 GATGAAACTCTCACTGGACAC 0.443000 37 55 0 0 1 0 0 DUOX2 50506 broad.mit.edu 37 15 45404910 45404910 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr15:45404910C>T ENST00000389039.6 - 4 552 c.167G>A c.(166-168)cGg>cAg p.R56Q DUOX2_ENST00000603300.1_Missense_Mutation_p.R56Q Q9NRD8 DUOX2_HUMAN dual oxidase 2 56 Peroxidase-like; mediates peroxidase activity (By similarity). cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 63 all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068) GCGCTGCAACCGGCAGCCTGC 0.662000 15 30 0 0 1 0 0 BCL2L1 598 broad.mit.edu 37 20 30309730 30309730 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr20:30309730C>T ENST00000307677.4 - 2 702 c.292G>A c.(292-294)Gaa>Aaa p.E98K BCL2L1_ENST00000376062.2_Missense_Mutation_p.E98K|BCL2L1_ENST00000376055.4_Missense_Mutation_p.E98K|BCL2L1_ENST00000420653.1_Missense_Mutation_p.E98K NM_138578.1 NP_612815.1 Q07817 B2CL1_HUMAN BCL2-like 1 98 induction of apoptosis by intracellular signals|negative regulation of establishment of protein localization in plasma membrane|negative regulation of survival gene product expression|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|release of cytochrome c from mitochondria|response to cytokine stimulus integral to membrane|mitochondrial outer membrane|nuclear membrane BH3 domain binding|identical protein binding breast(1)|central_nervous_system(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 all_cancers(5;3.47e-06)|all_epithelial(3;1.83e-06)|Lung NSC(7;2.08e-06)|all_lung(7;3.63e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198) Epithelial(4;2.97e-06)|all cancers(5;3.21e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00052)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264) TACCGCAGTTCAAACTCGTCG 0.572000 15 84 0 0 1 0 0 PCDHB8 56128 broad.mit.edu 37 5 140559057 140559057 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr5:140559057C>T ENST00000239444.2 + 1 1687 c.1442C>T c.(1441-1443)tCg>tTg p.S481L NM_019120.3 NP_061993.2 Q9UN66 PCDB8_HUMAN 481 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GACAGAGACTCGGGCACCAAC 0.662000 110 112 0 0 1 0 0 HUWE1 10075 broad.mit.edu 37 X 53619390 53619390 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chrX:53619390C>T ENST00000342160.3 - 32 4397 c.3940G>A c.(3940-3942)Gaa>Aaa p.E1314K HUWE1_ENST00000218328.8_Missense_Mutation_p.E1314K|HUWE1_ENST00000262854.6_Missense_Mutation_p.E1314K Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 1314 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 ACTTGAGGTTCCCGGCGGGAG 0.552000 25 36 0 0 1 0 0 SCAF11 9169 broad.mit.edu 37 12 46321292 46321292 + Missense_Mutation SNP G G C TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr12:46321292G>C ENST00000465950.1 - 1 2456 c.1247C>G c.(1246-1248)tCt>tGt p.S416C SCAF11_ENST00000369367.3_Missense_Mutation_p.S731C|SCAF11_ENST00000549162.1_Missense_Mutation_p.S539C|SCAF11_ENST00000419565.2_Missense_Mutation_p.S731C Q99590 SCAFB_HUMAN SR-related CTD-associated factor 11 731 spliceosome assembly nucleus protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 69 TTCAACTTCAGATTCATTTTG 0.353000 28 88 0 0 1 0 0 KNDC1 85442 broad.mit.edu 37 10 135020454 135020454 + Silent SNP G G C TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr10:135020454G>C ENST00000304613.3 + 19 3597 c.3576G>C c.(3574-3576)ctG>ctC p.L1192L KNDC1_ENST00000368572.2_Silent_p.L1194L|KNDC1_ENST00000368571.2_Silent_p.L1127L Q76NI1 VKIND_HUMAN kinase non-catalytic C-lobe domain (KIND) containing 1 1192 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 60 all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05) AGAAGTATCTGCAGGCAAGTG 0.547000 9 26 0 0 1 0 0 IL1RL2 8808 broad.mit.edu 37 2 102836357 102836357 + Missense_Mutation SNP C C T rs150558280 byFrequency TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr2:102836357C>T ENST00000264257.2 + 8 997 c.871C>T c.(871-873)Cgg>Tgg p.R291W IL1RL2_ENST00000539491.1_Missense_Mutation_p.R291W|IL1RL2_ENST00000441515.2_Missense_Mutation_p.R173W|IL1RL2_ENST00000481806.1_3'UTR NM_003854.2 NP_003845.2 Q9HB29 ILRL2_HUMAN interleukin 1 receptor-like 2 291 Ig-like C2-type 3. cellular defense response|innate immune response integral to plasma membrane interleukin-1, Type I, activating receptor activity breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1) 26 TGTCTCTTTTCGGGAACATAA 0.363000 11 45 0 0 1 0 0 OR8J3 81168 broad.mit.edu 37 11 55904438 55904438 + Missense_Mutation SNP C C A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr11:55904438C>A ENST00000301529.1 - 1 756 c.757G>T c.(757-759)Ggg>Tgg p.G253W NM_001004064.1 NP_001004064.1 Q8NGG0 OR8J3_HUMAN olfactory receptor, family 8, subfamily J, member 3 253 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 59 Esophageal squamous(21;0.00693) AGCATTGTCCCATAGAAAACC 0.413000 15 64 2.32078e-09 2.40069e-09 1 1 0 C14orf39 317761 broad.mit.edu 37 14 60925418 60925418 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr14:60925418C>T ENST00000321731.3 - 14 1316 c.1157G>A c.(1156-1158)aGa>aAa p.R386K NM_174978.2 NP_777638 Q08AQ4 Q08AQ4_HUMAN chromosome 14 open reading frame 39 386 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(108;0.0448) TTTTGATTCTCTTACTTGTCT 0.249000 60 42 0 0 1 0 0 ITGA8 8516 broad.mit.edu 37 10 15760884 15760884 + Missense_Mutation SNP A A C TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr10:15760884A>C ENST00000378076.3 - 2 577 c.224T>G c.(223-225)gTg>gGg p.V75G NM_003638.1 NP_003629 P53708 ITA8_HUMAN integrin, alpha 8 75 cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 96 GGGCGCCCCCACCAAGACACT 0.607000 7 63 0 0 1 0 0 SH3BP2 6452 broad.mit.edu 37 4 2831536 2831536 + Silent SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr4:2831536C>T ENST00000356331.5 + 8 1164 c.903C>T c.(901-903)gcC>gcT p.A301A SH3BP2_ENST00000435136.2_Silent_p.A301A|SH3BP2_ENST00000503393.2_Silent_p.A358A|SH3BP2_ENST00000511747.1_Silent_p.A301A|SH3BP2_ENST00000452765.2_Silent_p.A301A|SH3BP2_ENST00000442312.2_Silent_p.A329A NM_003023.4 NP_003014.3 P78314 3BP2_HUMAN SH3-domain binding protein 2 301 signal transduction SH3 domain binding|SH3/SH2 adaptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 20 UCEC - Uterine corpus endometrioid carcinoma (64;0.164) GGGAGAGTGCCAGCCCCAGCC 0.667000 Cherubism 10 67 0 0 1 0 0 KAT7 11143 broad.mit.edu 37 17 47899081 47899081 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr17:47899081G>A ENST00000503935.2 + 11 1883 c.847G>A c.(847-849)Gag>Aag p.E283K KAT7_ENST00000435742.2_Missense_Mutation_p.E253K|KAT7_ENST00000454930.2_Missense_Mutation_p.E300K|KAT7_ENST00000513980.1_3'UTR|KAT7_ENST00000259021.4_Missense_Mutation_p.E439K|KAT7_ENST00000424009.2_Missense_Mutation_p.E409K|KAT7_ENST00000510819.1_Missense_Mutation_p.E270K|KAT7_ENST00000509773.1_Missense_Mutation_p.E329K O95251 MYST2_HUMAN K(lysine) acetyltransferase 7 439 DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation histone acetyltransferase complex histone acetyltransferase activity|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding TTATGATGTGGAGCCCTTCCT 0.443000 43 29 0 0 1 0 0 PTGER3 5733 broad.mit.edu 37 1 71512496 71512496 + Silent SNP G G C TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr1:71512496G>C ENST00000370924.4 - 1 995 c.765C>G c.(763-765)gcC>gcG p.A255A PTGER3_ENST00000306666.5_Silent_p.A255A|PTGER3_ENST00000351052.5_Silent_p.A255A|PTGER3_ENST00000460330.1_Silent_p.A255A|PTGER3_ENST00000414819.1_Silent_p.A255A|PTGER3_ENST00000370932.2_Silent_p.A255A|PTGER3_ENST00000370931.3_Silent_p.A255A|PTGER3_ENST00000354608.5_Silent_p.A255A|PTGER3_ENST00000356595.4_Silent_p.A255A NM_198715.2 NP_942008.1 P43115 PE2R3_HUMAN prostaglandin E receptor 3 (subtype EP3) 255 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) GGGACACCAGGGCCTTAATGG 0.612000 13 34 0 0 1 0 0 TNN 63923 broad.mit.edu 37 1 175067637 175067637 + Silent SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr1:175067637G>A ENST00000239462.4 + 9 2138 c.2025G>A c.(2023-2025)ctG>ctA p.L675L NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 675 Fibronectin type-III 5. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) GCACAGTCCTGACAGGCCTGA 0.627000 83 31 0 0 1 0 0 TBL1XR1 79718 broad.mit.edu 37 3 176750885 176750885 + Silent SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr3:176750885G>A ENST00000430069.1 - 14 1549 c.1290C>T c.(1288-1290)gaC>gaT p.D430D TBL1XR1_ENST00000457928.2_Silent_p.D430D Q9BZK7 TBL1R_HUMAN transducin (beta)-like 1 X-linked receptor 1 430 canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent spindle microtubule|transcriptional repressor complex beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214) Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215) OV - Ovarian serous cystadenocarcinoma(80;9.83e-31) ATATCCCTCGGTCTACATCCC 0.428000 16 26 0 0 1 0 0 RAB27A 5873 broad.mit.edu 37 15 55527103 55527103 + Silent SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr15:55527103G>A ENST00000396307.2 - 2 281 c.30C>T c.(28-30)atC>atT p.I10I RAB27A_ENST00000336787.1_Silent_p.I10I|RAB27A_ENST00000569493.1_Silent_p.I10I|RAB27A_ENST00000564609.1_Silent_p.I10I NM_004580.4 NP_004571.2 P51159 RB27A_HUMAN RAB27A, member RAS oncogene family 10 small GTPase mediated signal transduction dendrite|exocytic vesicle|late endosome|lysosome|melanosome GTP binding|GTPase activity endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)|skin(1) 9 all cancers(107;0.0273)|GBM - Glioblastoma multiforme(80;0.0993) CTAAAAACTTGATGAGGTAAT 0.328000 12 24 0 0 1 0 0 YTHDC2 64848 broad.mit.edu 37 5 112927786 112927786 + Missense_Mutation SNP C C G TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr5:112927786C>G ENST00000161863.4 + 28 4336 c.4123C>G c.(4123-4125)Cga>Gga p.R1375G NM_022828.3 NP_073739.3 Q9H6S0 YTDC2_HUMAN YTH domain containing 2 1375 YTH. ATP binding|ATP-dependent helicase activity|nucleic acid binding p.R1375*(1) NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 43 all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594) GGAGTGGATACGAAAAGAAAG 0.453000 10 9 0 0 1 0 0 CEP170B 283638 broad.mit.edu 37 14 105360912 105360912 + Silent SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr14:105360912G>A ENST00000453495.1 + 18 4740 c.4512G>A c.(4510-4512)caG>caA p.Q1504Q CEP170B_ENST00000414716.3_Silent_p.Q1468Q|CEP170B_ENST00000556508.1_Silent_p.Q1433Q|CEP170B_ENST00000418279.1_Silent_p.Q1398Q centrosomal protein 170B GGCGGGTGCAGAAACAGCTGG 0.627000 12 6 0 0 1 0 0 CYR61 3491 broad.mit.edu 37 1 86048116 86048116 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr1:86048116C>T ENST00000451137.2 + 4 876 c.652C>T c.(652-654)Cgc>Tgc p.R218C NM_001554.4 NP_001545.2 O00622 CYR61_HUMAN cysteine-rich, angiogenic inducer, 61 218 cell proliferation|chemotaxis|positive regulation of BMP signaling pathway|positive regulation of cell migration|positive regulation of osteoblast differentiation|positive regulation of osteoblast proliferation|positive regulation of protein kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell growth|regulation of ERK1 and ERK2 cascade|wound healing, spreading of cells extracellular region heparin binding|insulin-like growth factor binding central_nervous_system(1)|endometrium(1)|large_intestine(2)|prostate(1) 5 all cancers(265;0.0216)|Epithelial(280;0.0441) AATGGAGCCTCGCATCCTATA 0.438000 OREG0013583 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 46 0 0 1 0 0 RPS6KA3 6197 broad.mit.edu 37 X 20190950 20190950 + Nonsense_Mutation SNP C C A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chrX:20190950C>A ENST00000379565.3 - 15 1474 c.1267G>T c.(1267-1269)Gaa>Taa p.E423* RPS6KA3_ENST00000544447.1_Nonsense_Mutation_p.E395*|RPS6KA3_ENST00000479809.1_5'UTR|RPS6KA3_ENST00000540702.1_Nonsense_Mutation_p.E394*|RPS6KA3_ENST00000379548.4_Nonsense_Mutation_p.E393* NM_004586.2 NP_004577.1 P51812 KS6A3_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 3 423 Protein kinase 2. axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|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|nucleoplasm ATP binding|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1) 41 TCTTTTACTTCATATCCATCA 0.328000 12 24 6.40141e-05 6.47639e-05 1 1 0 ZBTB10 65986 broad.mit.edu 37 8 81400006 81400006 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr8:81400006G>A ENST00000430430.1 + 2 1740 c.961G>A c.(961-963)Gcc>Acc p.A321T ZBTB10_ENST00000426744.2_Missense_Mutation_p.A321T|ZBTB10_ENST00000455036.3_Missense_Mutation_p.A321T|ZBTB10_ENST00000379091.4_Intron NM_001277145.1 NP_001264074.1 Q96DT7 ZBT10_HUMAN zinc finger and BTB domain containing 10 321 transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(4) 20 all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06) BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296) ACTCCACGAAGCCAACGCCCA 0.532000 11 34 0 0 1 0 0 SLC19A1 6573 broad.mit.edu 37 21 46950821 46950821 + Silent SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr21:46950821G>A ENST00000311124.4 - 4 1166 c.1014C>T c.(1012-1014)ctC>ctT p.L338L SLC19A1_ENST00000567670.1_Silent_p.L338L|SLC19A1_ENST00000380010.4_Silent_p.L338L|SLC19A1_ENST00000485649.2_Silent_p.L298L NM_194255.2 NP_919231.1 P41440 S19A1_HUMAN solute carrier family 19 (folate transporter), member 1 338 folic acid metabolic process integral to plasma membrane|membrane fraction folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1) 10 Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172) CGCCCGCGATGAGCAGCTTGG 0.697000 20 9 0 0 1 0 0 FCRL4 83417 broad.mit.edu 37 1 157567718 157567718 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr1:157567718G>A ENST00000271532.1 - 1 152 c.17C>T c.(16-18)tCc>tTc p.S6F NM_031282.2 NP_112572.1 Q96PJ5 FCRL4_HUMAN Fc receptor-like 4 6 integral to membrane|plasma membrane receptor activity breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 40 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.245) GGCCAGCAAGGACGCCCACAG 0.547000 4 12 0 0 1 0 0 ELF3 1999 broad.mit.edu 37 1 201981177 201981177 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr1:201981177G>A ENST00000359651.3 + 2 3448 c.256G>A c.(256-258)Gac>Aac p.D86N ELF3_ENST00000495848.1_3'UTR|ELF3_ENST00000367283.3_Missense_Mutation_p.D86N|RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000367284.5_Missense_Mutation_p.D86N P78545 ELF3_HUMAN E74-like factor 3 (ets domain transcription factor, epithelial-specific ) 86 PNT. epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 20 GAACAAGTACGACGCAAGCGC 0.577000 37 66 0 0 1 0 0 CACNA1C 775 broad.mit.edu 37 12 2692024 2692024 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr12:2692024G>A ENST00000399655.1 + 15 2405 c.2140G>A c.(2140-2142)Gat>Aat p.D714N CACNA1C_ENST00000399629.1_Missense_Mutation_p.D714N|CACNA1C_ENST00000347598.4_Missense_Mutation_p.D714N|CACNA1C_ENST00000335762.5_Missense_Mutation_p.D739N|CACNA1C_ENST00000399644.1_Missense_Mutation_p.D714N|CACNA1C_ENST00000399597.1_Missense_Mutation_p.D714N|CACNA1C_ENST00000399638.1_Missense_Mutation_p.D714N|CACNA1C_ENST00000399634.1_Missense_Mutation_p.D714N|CACNA1C_ENST00000327702.7_Missense_Mutation_p.D714N|CACNA1C_ENST00000344100.3_Missense_Mutation_p.D714N|CACNA1C_ENST00000399617.1_Missense_Mutation_p.D714N|CACNA1C_ENST00000399601.1_Missense_Mutation_p.D714N|CACNA1C_ENST00000399621.1_Missense_Mutation_p.D714N|CACNA1C_ENST00000402845.3_Missense_Mutation_p.D714N|CACNA1C_ENST00000399591.1_Missense_Mutation_p.D714N|CACNA1C_ENST00000480911.1_Missense_Mutation_p.D714N|CACNA1C_ENST00000406454.3_Missense_Mutation_p.D714N|CACNA1C_ENST00000399603.1_Missense_Mutation_p.D714N|CACNA1C_ENST00000399637.1_Missense_Mutation_p.D714N|CACNA1C_ENST00000399641.1_Missense_Mutation_p.D714N|CACNA1C_ENST00000399606.1_Missense_Mutation_p.D714N|CACNA1C_ENST00000399649.1_Missense_Mutation_p.D714N|CACNA1C_ENST00000399595.1_Missense_Mutation_p.D714N 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 714 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) GGTGATGTATGATGGGATCAT 0.483000 10 12 0 0 1 0 0 UNC5D 137970 broad.mit.edu 37 8 35401971 35401971 + Silent SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr8:35401971C>T ENST00000453357.2 + 1 62 c.6C>T c.(4-6)atC>atT p.I2I UNC5D_ENST00000416672.1_Intron|UNC5D_ENST00000420357.1_Intron|UNC5D_ENST00000404895.2_Intron|UNC5D_ENST00000287272.2_Intron Q6UXZ4 UNC5D_HUMAN unc-5 homolog D (C. elegans) 0 apoptosis|axon guidance integral to membrane receptor activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2) 112 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) GGTGGATGATCCTGGTGTTAG 0.413000 10 24 0 0 1 0 0 SBNO1 55206 broad.mit.edu 37 12 123834910 123834910 + Missense_Mutation SNP C C G TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr12:123834910C>G ENST00000420886.2 - 1 78 c.79G>C c.(79-81)Gat>Cat p.D27H SBNO1_ENST00000267176.4_Missense_Mutation_p.D27H|SBNO1_ENST00000602398.1_Missense_Mutation_p.D27H|SBNO1_ENST00000602750.1_Missense_Mutation_p.D27H NM_001167856.1 NP_001161328.1 A3KN83 SBNO1_HUMAN strawberry notch homolog 1 (Drosophila) 27 ATP binding|DNA binding|hydrolase activity NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2) 62 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197) TCTCCACCATCAATATCAAAG 0.443000 39 143 0 0 1 0 0 FER1L6 654463 broad.mit.edu 37 8 124992839 124992839 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr8:124992839G>A ENST00000522917.1 + 11 1404 c.1198G>A c.(1198-1200)Gaa>Aaa p.E400K FER1L6_ENST00000399018.1_Missense_Mutation_p.E400K NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 400 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) AATCTTGGTAGAAATTGCTGT 0.498000 OREG0018964 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 36 63 0 0 1 0 0 RP11-252A24.2 0 broad.mit.edu 37 16 74372644 74372644 + RNA SNP A A G TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr16:74372644A>G ENST00000429810.2 - 0 1552 TACCCTTGTCAGGGGGAACAA 0.443000 4 26 0 0 1 0 0 BAI3 577 broad.mit.edu 37 6 69943186 69943186 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr6:69943186G>A ENST00000370598.1 + 18 3306 c.2485G>A c.(2485-2487)Gag>Aag p.E829K BAI3_ENST00000238918.8_Missense_Mutation_p.E35K NM_001704.2 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 829 GPS. negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) TTGCAGGAACGAGTCTTTGGG 0.468000 41 115 0 0 1 0 0 TERC 7012 broad.mit.edu 37 3 169482464 169482464 + RNA SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr3:169482464C>T ENST00000602385.1 - 0 384 NR_001566.1 CGCGGGGACTCGCTCCGTTCC 0.672000 Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis 8 13 0 0 1 0 0 ITPRIPL2 162073 broad.mit.edu 37 16 19126041 19126041 + Missense_Mutation SNP C C G TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr16:19126041C>G ENST00000564808.2 + 2 202 c.202C>G c.(202-204)Ctt>Gtt p.L68V ITPRIPL2_ENST00000381440.3_Silent_p.A86A GTCACGCCGCCTTCTCCTCGA 0.662000 13 18 0 0 1 0 0 CAMKK2 10645 broad.mit.edu 37 12 121678660 121678660 + Nonsense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr12:121678660G>A ENST00000324774.5 - 17 2437 c.1609C>T c.(1609-1611)Cga>Tga p.R537* CAMKK2_ENST00000404169.3_Nonsense_Mutation_p.R537*|CAMKK2_ENST00000337174.3_Silent_p.S522S|CAMKK2_ENST00000538733.1_Silent_p.S479S|CAMKK2_ENST00000545538.1_Intron|CAMKK2_ENST00000412367.2_Silent_p.S522S|CAMKK2_ENST00000402834.4_Nonsense_Mutation_p.R537*|CAMKK2_ENST00000392474.2_Intron|CAMKK2_ENST00000347034.2_Nonsense_Mutation_p.R494* NM_006549.3 NP_006540.3 Q96RR4 KKCC2_HUMAN calcium/calmodulin-dependent protein kinase kinase 2, beta 537 calcium-mediated signaling|MAPKKK cascade|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity cytoplasm ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) GGTTGTCTTCGCTGCCTTGCT 0.637000 17 35 0 0 1 0 0 RECQL4 9401 broad.mit.edu 37 8 145741440 145741440 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr8:145741440G>A ENST00000428558.2 - 5 1104 c.1063C>T c.(1063-1065)Cgg>Tgg p.R355W RECQL4_ENST00000532237.1_5'UTR NM_004260.3 NP_004251.3 O94761 RECQ4_HUMAN RecQ protein-like 4 355 R -> Q. DNA duplex unwinding|DNA recombination|DNA repair cytoplasm|nucleus ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 26 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) ATGTTGAGCCGTACGTAATTG 0.637000 """N, F, S""" """osteosarcoma, skin basal and sqamous cell""" Genes defective in diseases associated with sensitivity to DNA damaging agents Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome 3 42 0 0 1 0 0 ANKRD17 26057 broad.mit.edu 37 4 73957593 73957593 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr4:73957593G>A ENST00000358602.4 - 29 5868 c.5752C>T c.(5752-5754)Cca>Tca p.P1918S ANKRD17_ENST00000330838.6_Missense_Mutation_p.P1667S|ANKRD17_ENST00000509867.2_Missense_Mutation_p.P1805S NM_032217.3 NP_115593.3 O75179 ANR17_HUMAN ankyrin repeat domain 17 1918 interspecies interaction between organisms cytoplasm|nucleus RNA binding NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3) 96 Breast(15;0.000295) Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) TGAGCTGGTGGAAAAGTACCT 0.537000 16 29 0 0 1 0 0 DZIP1 22873 broad.mit.edu 37 13 96261723 96261723 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr13:96261723G>A ENST00000347108.3 - 11 1840 c.1408C>T c.(1408-1410)Cca>Tca p.P470S DZIP1_ENST00000361396.2_Intron|DZIP1_ENST00000376829.2_Missense_Mutation_p.P470S|DZIP1_ENST00000361156.3_Intron Q86YF9 DZIP1_HUMAN DAZ interacting zinc finger protein 1 470 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) GGCACAGCTGGAGCAGCTGGC 0.358000 14 6 0 0 1 0 0 C1QTNF9 338872 broad.mit.edu 37 13 24895489 24895489 + Silent SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr13:24895489G>A ENST00000382071.2 + 4 670 c.585G>A c.(583-585)gaG>gaA p.E195E AL359736.1_ENST00000422229.2_Silent_p.V26V|C1QTNF9-AS1_ENST00000449656.1_RNA|C1QTNF9_ENST00000332018.4_Silent_p.E195E P0C862 C1T9A_HUMAN C1q and tumor necrosis factor related protein 9 195 collagen hormone activity endometrium(1)|kidney(2)|lung(6) 9 all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159) AAATCGGTGAGACTCTAGTCT 0.507000 15 37 0 0 1 0 0 NEK11 79858 broad.mit.edu 37 3 130947437 130947437 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr3:130947437G>A ENST00000383366.4 + 15 1758 c.1465G>A c.(1465-1467)Gag>Aag p.E489K NEK11_ENST00000412440.2_Missense_Mutation_p.E305K|NEK11_ENST00000508196.1_Missense_Mutation_p.E489K|NEK11_ENST00000510688.1_Missense_Mutation_p.E489K|NEK11_ENST00000429253.2_Missense_Mutation_p.E489K|NEK11_ENST00000510769.1_Missense_Mutation_p.E384K NM_024800.4 NP_079076.3 Q8NG66 NEK11_HUMAN NIMA-related kinase 11 489 cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade nucleolus ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2) 33 CTATTGTGAAGAGAGTGATGA 0.428000 51 88 0 0 1 0 0 FERMT3 83706 broad.mit.edu 37 11 63990598 63990598 + Silent SNP C C T rs112045200 TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr11:63990598C>T ENST00000279227.5 + 14 1856 c.1761C>T c.(1759-1761)gaC>gaT p.D587D FERMT3_ENST00000345728.5_Silent_p.D583D NM_178443.2 NP_848537.1 Q86UX7 URP2_HUMAN fermitin family member 3 587 integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin cell junction|cell projection|podosome integrin binding breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 18 CCGTGGGCGACGTGGTCAAGA 0.612000 12 52 0 0 1 0 0 NOP10 55505 broad.mit.edu 37 15 34634196 34634196 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr15:34634196C>T ENST00000328848.4 - 2 271 c.168G>A c.(166-168)atG>atA p.M56I NOP10_ENST00000557912.1_Silent_p.*37* NM_018648.3 NP_061118.1 Q9NPE3 NOP10_HUMAN NOP10 ribonucleoprotein 56 pseudouridine synthesis|rRNA processing Cajal body|nucleolus|small nucleolar ribonucleoprotein complex protein binding lung(1)|ovary(1) 2 GTTGCTGGGTCATGAGCACCT 0.542000 8 13 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1271606 1271606 + Missense_Mutation SNP C C G TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr11:1271606C>G ENST00000447027.1 + 31 13563 c.13505C>G c.(13504-13506)tCc>tGc p.S4502C MUC5B_ENST00000529681.1_Missense_Mutation_p.S4499C Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 4499 23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) ACTCCCTCCTCCAGTCCAGGG 0.642000 5 135 0 0 1 0 0 RRP12 23223 broad.mit.edu 37 10 99160234 99160234 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr10:99160234G>A ENST00000370992.4 - 2 308 c.197C>T c.(196-198)tCc>tTc p.S66F RRP12_ENST00000414986.1_Missense_Mutation_p.S66F|RRP12_ENST00000315563.6_Missense_Mutation_p.S66F NM_015179.3 NP_055994.2 Q5JTH9 RRP12_HUMAN ribosomal RNA processing 12 homolog (S. cerevisiae) 66 integral to membrane|nuclear membrane|nucleolus protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 37 Colorectal(252;0.162) Epithelial(162;2.72e-09)|all cancers(201;1.76e-07) CAAGCGCAAGGACCCTGACTG 0.562000 21 92 0 0 1 0 0 BUB1B 701 broad.mit.edu 37 15 40505659 40505659 + Silent SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr15:40505659C>T ENST00000287598.6 + 20 2857 c.2662C>T c.(2662-2664)Ctg>Ttg p.L888L BUB1B_ENST00000412359.3_Silent_p.L902L NM_001211.5 NP_001202 O60566 BUB1B_HUMAN BUB1 mitotic checkpoint serine/threonine kinase B 888 Protein kinase. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2) 36 all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556) TCCAAGGTGTCTGATTCTCAG 0.368000 """Mis, N, F, S""" rhabdomyosarcoma Mosaic Variegated Aneuploidy Syndrome 8 55 0 0 1 0 0 OS9 10956 broad.mit.edu 37 12 58111707 58111707 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr12:58111707G>A ENST00000315970.7 + 10 1141 c.1100G>A c.(1099-1101)cGa>cAa p.R367Q OS9_ENST00000389146.6_Missense_Mutation_p.R367Q|OS9_ENST00000389142.5_Missense_Mutation_p.R367Q|RP11-571M6.7_ENST00000549477.1_RNA|OS9_ENST00000413095.2_Missense_Mutation_p.R161Q|OS9_ENST00000552285.1_Missense_Mutation_p.R367Q|OS9_ENST00000551035.1_Missense_Mutation_p.R335Q|OS9_ENST00000257966.8_Missense_Mutation_p.R368Q|OS9_ENST00000439210.2_Missense_Mutation_p.R308Q|OS9_ENST00000435406.2_Missense_Mutation_p.R315Q NM_001017958.2|NM_006812.3 NP_001017958.1|NP_006803.1 Q13438 OS9_HUMAN osteosarcoma amplified 9, endoplasmic reticulum lectin 367 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) GATTTGATTCGATTCATAGAG 0.428000 28 76 0 0 1 0 0 SACS 26278 broad.mit.edu 37 13 23912230 23912230 + Missense_Mutation SNP G G A rs141019064 TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr13:23912230G>A ENST00000382298.3 - 10 6373 c.5785C>T c.(5785-5787)Cgg>Tgg p.R1929W SACS_ENST00000382292.3_Missense_Mutation_p.R1929W|SACS_ENST00000402364.1_Missense_Mutation_p.R1179W NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 1929 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) GCCAGGTCCCGTAAGACACTC 0.408000 10 28 0 0 1 0 0 CRB1 23418 broad.mit.edu 37 1 197298072 197298072 + Silent SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr1:197298072C>T ENST00000367400.3 + 2 726 c.591C>T c.(589-591)aaC>aaT p.N197N CRB1_ENST00000367399.2_Silent_p.N197N|CRB1_ENST00000535699.1_Silent_p.N128N|CRB1_ENST00000538660.1_Silent_p.N197N NM_201253.2 NP_957705.1 P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 197 EGF-like 5; calcium-binding (Potential). 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 CCTGCAAGAACGAGGCTACAT 0.433000 9 78 0 0 1 0 0 ZBTB22 9278 broad.mit.edu 37 6 33283239 33283239 + Missense_Mutation SNP G G C TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr6:33283239G>C ENST00000431845.2 - 2 1606 c.1455C>G c.(1453-1455)atC>atG p.I485M ZBTB22_ENST00000418724.1_Missense_Mutation_p.I485M NM_005453.4 NP_005444.4 O15209 ZBT22_HUMAN zinc finger and BTB domain containing 22 485 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3) 21 GGCACAGAAAGATCTTATTCC 0.642000 14 103 0 0 1 0 0 LAMA4 3910 broad.mit.edu 37 6 112463405 112463405 + Silent SNP C C G TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr6:112463405C>G ENST00000230538.7 - 20 2980 c.2583G>C c.(2581-2583)ctG>ctC p.L861L LAMA4_ENST00000522006.1_Silent_p.L854L|LAMA4_ENST00000424408.2_Silent_p.L854L|LAMA4_ENST00000389463.4_Silent_p.L854L NM_001105206.2 NP_001098676.2 Q16363 LAMA4_HUMAN laminin, alpha 4 861 Laminin G-like 1. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8) 100 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) TGTACAGGCTCAGAGACGTGA 0.498000 30 68 0 0 1 0 0 TNFRSF13C 115650 broad.mit.edu 37 22 42322147 42322147 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr22:42322147G>A ENST00000291232.3 - 2 369 c.325C>T c.(325-327)Cgc>Tgc p.R109C NM_052945.3 NP_443177.1 Q96RJ3 TR13C_HUMAN tumor necrosis factor receptor superfamily, member 13C 109 integral to membrane receptor activity lung(2)|urinary_tract(1) 3 GACGCGCCGCGAAGCCGCCGC 0.731000 20 13 0 0 1 0 0 GRIN1 2902 broad.mit.edu 37 9 140051206 140051206 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr9:140051206G>A ENST00000371561.3 + 5 1854 c.757G>A c.(757-759)Gag>Aag p.E253K GRIN1_ENST00000315048.3_Missense_Mutation_p.E253K|GRIN1_ENST00000371560.3_Missense_Mutation_p.E274K|GRIN1_ENST00000371553.3_Missense_Mutation_p.E274K|GRIN1_ENST00000371559.4_Missense_Mutation_p.E253K|GRIN1_ENST00000350902.5_Missense_Mutation_p.E253K|GRIN1_ENST00000371555.4_Missense_Mutation_p.E274K|GRIN1_ENST00000371546.4_Missense_Mutation_p.E274K|GRIN1_ENST00000371550.4_Missense_Mutation_p.E253K|GRIN1_ENST00000471122.1_3'UTR NM_007327.3 NP_015566.1 Q05586 NMDZ1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 1 253 ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0878) OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095) L-Glutamic Acid(DB00142)|Orphenadrine(DB01173) CGGCGAGCGCGAGATCTCGGG 0.697000 5 0 0 0 1 0 0 ACO1 48 broad.mit.edu 37 9 32436261 32436261 + Missense_Mutation SNP G G C TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr9:32436261G>C ENST00000309951.6 + 18 2251 c.2113G>C c.(2113-2115)Gaa>Caa p.E705Q ACO1_ENST00000379923.1_Missense_Mutation_p.E705Q|ACO1_ENST00000541043.1_Missense_Mutation_p.E606Q NM_002197.2 NP_002188.1 P21399 ACOC_HUMAN aconitase 1, soluble citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle cytosol|endoplasmic reticulum|Golgi apparatus 4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 30 LUSC - Lung squamous cell carcinoma(29;0.00813) GBM - Glioblastoma multiforme(74;3.94e-06) AACTCCACGAGAATTCAACTC 0.448000 22 37 0 0 1 0 0 EPRS 2058 broad.mit.edu 37 1 220160661 220160661 + Missense_Mutation SNP G G A rs144026458 TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr1:220160661G>A ENST00000366923.3 - 20 3130 c.2861C>T c.(2860-2862)tCg>tTg p.S954L NM_004446.2 NP_004437.2 P07814 SYEP_HUMAN glutamyl-prolyl-tRNA synthetase 954 3 X 57 AA approximate repeats.|WHEP-TRS 3. glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly cytosol|soluble fraction ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3) 63 GBM - Glioblastoma multiforme(131;0.0735) L-Glutamic Acid(DB00142)|L-Proline(DB00172) TCCAGTGGCCGACACAGGCTT 0.373000 11 41 0 0 1 0 0 C7orf31 136895 broad.mit.edu 37 7 25207993 25207993 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr7:25207993C>T ENST00000409280.1 - 3 534 c.226G>A c.(226-228)Gag>Aag p.E76K C7orf31_ENST00000283905.3_Missense_Mutation_p.E76K Q8N865 CG031_HUMAN chromosome 7 open reading frame 31 76 autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1) 14 CTGTGGTCCTCGGGGAGTGAA 0.468000 20 101 0 0 1 0 0 KCNA7 3743 broad.mit.edu 37 19 49575335 49575335 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr19:49575335C>T ENST00000221444.1 - 1 863 c.508G>A c.(508-510)Gac>Aac p.D170N NM_031886.2 NP_114092.2 Q96RP8 KCNA7_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 7 170 voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2) 11 all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441) TCGCGGTCGTCGCGGAAGTCA 0.711000 6 22 0 0 1 0 0 CNST 163882 broad.mit.edu 37 1 246811167 246811167 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr1:246811167G>A ENST00000366513.4 + 9 1933 c.1664G>A c.(1663-1665)tGt>tAt p.C555Y CNST_ENST00000483271.1_3'UTR|CNST_ENST00000366512.3_Missense_Mutation_p.C555Y NM_152609.2 NP_689822.2 Q6PJW8 CNST_HUMAN consortin, connexin sorting protein 555 positive regulation of Golgi to plasma membrane protein transport integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle connexin binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2) 28 TTAGAAGGATGTTTAAAAGAT 0.428000 49 58 0 0 1 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77465225 77465225 + Silent SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr16:77465225G>A ENST00000282849.5 - 3 880 c.462C>T c.(460-462)tcC>tcT p.S154S ADAMTS18_ENST00000567121.1_5'UTR NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 154 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 CGACAGAGGAGGAGCTGTCAT 0.463000 7 52 0 0 1 0 0 SOS1 6654 broad.mit.edu 37 2 39249906 39249906 + Missense_Mutation SNP C C G TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr2:39249906C>G ENST00000426016.1 - 11 1749 c.1663G>C c.(1663-1665)Gat>Cat p.D555H SOS1_ENST00000395038.2_Missense_Mutation_p.D555H|SOS1_ENST00000402219.2_Missense_Mutation_p.D555H Q07889 SOS1_HUMAN son of sevenless homolog 1 (Drosophila) 555 apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 75 all_hematologic(82;0.21) ATTGTTACATCAAGCATCCTT 0.393000 Noonan syndrome 32 70 0 0 1 0 0 PDRG1 81572 broad.mit.edu 37 20 30538146 30538146 + Silent SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr20:30538146C>T ENST00000202017.4 - 2 262 c.132G>A c.(130-132)ctG>ctA p.L44L NM_030815.2 NP_110442.1 Q9NUG6 PDRG1_HUMAN p53 and DNA-damage regulated 1 44 protein folding prefoldin complex unfolded protein binding endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1) 8 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) GCAGGGCCCTCAGGCCCTCTC 0.512000 25 85 0 0 1 0 0 CP 1356 broad.mit.edu 37 3 148939523 148939523 + Silent SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr3:148939523C>T ENST00000264613.6 - 1 319 c.57G>A c.(55-57)gcG>gcA p.A19A NM_000096.3 NP_000087 P00450 CERU_HUMAN ceruloplasmin (ferroxidase) 19 cellular iron ion homeostasis|copper ion transport|transmembrane transport extracellular space chaperone binding|ferroxidase activity p.A19A(1) breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152) LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) Drotrecogin alfa(DB00055) GCTTTTCTTTCGCCCAGGCTG 0.363000 23 40 0 0 1 0 0 OR2C1 4993 broad.mit.edu 37 16 3406138 3406138 + Silent SNP C C G TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr16:3406138C>G ENST00000304936.2 + 1 250 c.198C>G c.(196-198)ctC>ctG p.L66L NM_012368.2 NP_036500.2 O95371 OR2C1_HUMAN olfactory receptor, family 2, subfamily C, member 1 66 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 TCAGCAACCTCTCCTCCTTGG 0.522000 25 60 0 0 1 0 0 CDH4 1002 broad.mit.edu 37 20 60499397 60499397 + Nonsense_Mutation SNP C C G TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr20:60499397C>G ENST00000360469.5 + 11 1722 c.1634C>G c.(1633-1635)tCa>tGa p.S545* CDH4_ENST00000543233.1_Nonsense_Mutation_p.S471* NM_001794.3 NP_001785.2 P55283 CADH4_HUMAN cadherin 4, type 1, R-cadherin (retinal) 545 Cadherin 4. adherens junction organization|cell junction assembly calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 BRCA - Breast invasive adenocarcinoma(19;2.36e-08) CGCAGATACTCAAAGCTGTCA 0.642000 3 26 0 0 1 0 0 CAMKK1 84254 broad.mit.edu 37 17 3769223 3769223 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr17:3769223G>A ENST00000381771.2 - 16 1685 c.1538C>T c.(1537-1539)tCt>tTt p.S513F CAMKK1_ENST00000158166.5_Missense_Mutation_p.S513F|CAMKK1_ENST00000381769.2_Missense_Mutation_p.S502F|CAMKK1_ENST00000348335.2_Missense_Mutation_p.S475F Q8N5S9 KKCC1_HUMAN calcium/calmodulin-dependent protein kinase kinase 1, alpha 475 synaptic transmission cytosol|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1) 11 LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176) TCCTGGAGCAGACATGGATCG 0.602000 20 35 0 0 1 0 0 EML2 24139 broad.mit.edu 37 19 46124554 46124554 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr19:46124554C>T ENST00000536630.1 - 14 1612 c.1474G>A c.(1474-1476)Gag>Aag p.E492K EML2_ENST00000587152.1_Missense_Mutation_p.E546K|EML2_ENST00000589876.1_Missense_Mutation_p.E345K|EML2_ENST00000245925.3_Missense_Mutation_p.E345K NM_001193269.1 NP_001180198.1 O95834 EMAL2_HUMAN echinoderm microtubule associated protein like 2 345 sensory perception of sound|visual perception cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex catalytic activity|protein binding NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1) 31 Ovarian(192;0.179)|all_neural(266;0.224) OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197) CCGTGGCCCTCTGCCACGGTG 0.617000 20 39 0 0 1 0 0 MFSD2B 388931 broad.mit.edu 37 2 24244526 24244526 + Silent SNP C C G TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr2:24244526C>G ENST00000338315.4 + 7 690 c.690C>G c.(688-690)ctC>ctG p.L230L MFSD2B_ENST00000406420.3_Silent_p.L230L A6NFX1 MFS2B_HUMAN major facilitator superfamily domain containing 2B 230 transport integral to membrane cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2) 10 AGGCCCATCTCTACTGCATTG 0.607000 5 21 0 0 1 0 0 KRTAP12-2 353323 broad.mit.edu 37 21 46086429 46086429 + Nonsense_Mutation SNP G G T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr21:46086429G>T ENST00000360770.3 - 1 415 c.375C>A c.(373-375)tgC>tgA p.C125* TSPEAR_ENST00000323084.4_Intron NM_181684.2 NP_859012.1 P59991 KR122_HUMAN keratin associated protein 12-2 125 23 X 5 AA approximate repeats. keratin filament central_nervous_system(1)|endometrium(1)|lung(3) 5 AGGGCTGGCAGCACCCAGAGG 0.632000 13 36 9.05144e-12 9.40533e-12 1 1 0 MYPOP 339344 broad.mit.edu 37 19 46404965 46404965 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr19:46404965C>T ENST00000322217.5 - 2 153 c.67G>A c.(67-69)Gaa>Aaa p.E23K NM_001012643.2 NP_001012661.1 Q86VE0 MYPOP_HUMAN Myb-related transcription factor, partner of profilin 23 Myb-like. nucleus DNA binding large_intestine(2)|lung(1)|skin(1) 4 TGGTTCTCTTCGAATGAGAAG 0.726000 7 4 0 0 1 0 0 GUCY2C 2984 broad.mit.edu 37 12 14804406 14804406 + Missense_Mutation SNP C C G TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr12:14804406C>G ENST00000261170.3 - 15 1781 c.1645G>C c.(1645-1647)Ggc>Cgc p.G549R NM_004963.3 NP_004954.2 P25092 GUC2C_HUMAN guanylate cyclase 2C (heat stable enterotoxin receptor) 549 Protein kinase. intracellular signal transduction|receptor guanylyl cyclase signaling pathway integral to membrane ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity p.G549C(1) breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1) 51 TTCACTGTGCCGTAGAACTTG 0.403000 9 65 0 0 1 0 0 KIF13B 23303 broad.mit.edu 37 8 28965660 28965660 + Missense_Mutation SNP T T C TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr8:28965660T>C ENST00000524189.1 - 35 4249 c.4211A>G c.(4210-4212)aAc>aGc p.N1404S NM_015254.3 NP_056069.2 Q9NQT8 KI13B_HUMAN kinesin family member 13B 1404 microtubule-based movement|protein targeting|signal transduction|T cell activation cytoplasm|microtubule ATP binding|microtubule motor activity|protein kinase binding endometrium(6)|kidney(1)|lung(20)|urinary_tract(1) 28 Ovarian(32;0.000536) KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181) ACCTACCTTGTTGCTGCCTAG 0.393000 4 6 0 0 1 0 0 GAS8 2622 broad.mit.edu 37 16 90109651 90109651 + Silent SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr16:90109651C>T ENST00000268699.4 + 11 1457 c.1335C>T c.(1333-1335)ttC>ttT p.F445F URAHP_ENST00000517889.1_RNA|GAS8_ENST00000536122.1_Silent_p.F420F NM_001481.2 NP_001472.1 O95995 GAS8_HUMAN growth arrest-specific 8 445 negative regulation of cell proliferation|sperm motility cilium|Golgi apparatus|microtubule|microtubule basal body|microtubule-based flagellum protein binding endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 14 all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.029) TGCTGGCCTTCGGGATCCCTC 0.647000 29 19 0 0 1 0 0 TROVE2 6738 broad.mit.edu 37 1 193038398 193038398 + Missense_Mutation SNP G G C TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr1:193038398G>C ENST00000367446.3 + 2 424 c.214G>C c.(214-216)Gaa>Caa p.E72Q TROVE2_ENST00000367443.1_Missense_Mutation_p.E72Q|TROVE2_ENST00000460715.2_Intron|TROVE2_ENST00000367444.3_Missense_Mutation_p.E72Q|TROVE2_ENST00000367441.1_Missense_Mutation_p.E72Q|TROVE2_ENST00000400968.2_Missense_Mutation_p.E72Q|TROVE2_ENST00000432079.1_Intron|TROVE2_ENST00000367445.3_Missense_Mutation_p.E72Q|TROVE2_ENST00000416058.2_5'UTR NM_004600.5 NP_004591.2 P10155 RO60_HUMAN TROVE domain family, member 2 72 TROVE. transcription from RNA polymerase III promoter cytoplasm|nucleus|ribonucleoprotein complex protein binding|RNA binding biliary_tract(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|urinary_tract(1) 21 CAGAGGATGTGAAGTGATACA 0.403000 9 69 0 0 1 0 0 RASSF1 11186 broad.mit.edu 37 3 50368147 50368147 + Silent SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr3:50368147G>A ENST00000359365.4 - 6 994 c.888C>T c.(886-888)ttC>ttT p.F296F RASSF1_ENST00000357043.2_Silent_p.F300F|RASSF1_ENST00000327761.3_Silent_p.F226F|RASSF1_ENST00000395126.3_Silent_p.F145F NM_001206957.1|NM_007182.4|NM_170714.1 NP_001193886.1|NP_009113.3|NP_733832.1 Q9NS23 RASF1_HUMAN Ras association (RalGDS/AF-6) domain family member 1 300 SARAH. cell cycle arrest|negative regulation of cell cycle arrest|positive regulation of protein ubiquitination|protein stabilization|Ras protein signal transduction|response to DNA damage stimulus microtubule|microtubule cytoskeleton|microtubule organizing center|nucleus|spindle pole identical protein binding|protein binding|protein N-terminus binding|zinc ion binding lung(2)|ovary(1)|skin(1)|urinary_tract(1) 5 BRCA - Breast invasive adenocarcinoma(193;0.000278)|OV - Ovarian serous cystadenocarcinoma(275;0.0015)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621) CAGGCATGCTGAAGGCGTCCC 0.572000 8 13 0 0 1 0 0 TMEM52 339456 broad.mit.edu 37 1 1849796 1849796 + Missense_Mutation SNP C C G TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr1:1849796C>G ENST00000378602.3 - 1 440 c.200G>C c.(199-201)cGg>cCg p.R67P TMEM52_ENST00000310991.3_Missense_Mutation_p.R82P Q8NDY8 TMM52_HUMAN transmembrane protein 52 82 integral to membrane NS(1)|prostate(1)|stomach(1) 3 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) TGCCTGCTTCCGGAGGCAGCA 0.622000 7 63 0 0 1 0 0 ERN2 10595 broad.mit.edu 37 16 23724475 23724475 + Missense_Mutation SNP G G T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr16:23724475G>T ENST00000256797.4 - 1 346 c.178C>A c.(178-180)Ccc>Acc p.P60T ERN2_ENST00000457008.2_Missense_Mutation_p.P12T NM_033266.3 NP_150296.3 Q76MJ5 ERN2_HUMAN endoplasmic reticulum to nucleus signaling 2 12 apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity large_intestine(2)|lung(2)|ovary(2) 6 GBM - Glioblastoma multiforme(48;0.0156) CCCAGCCGGGGCCACGGCCTC 0.716000 3 2 0.150653 0.150653 1 1 0 TACC2 10579 broad.mit.edu 37 10 123845774 123845774 + Silent SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr10:123845774G>A ENST00000369005.1 + 4 4099 c.3759G>A c.(3757-3759)gtG>gtA p.V1253V TACC2_ENST00000453444.2_Silent_p.V1253V|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515273.1_Silent_p.V1253V|TACC2_ENST00000334433.3_Silent_p.V1253V|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515603.1_Silent_p.V1253V NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 1253 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) ACAGTGGAGTGAAAGCTGTTT 0.592000 35 45 0 0 1 0 0 SYT11 23208 broad.mit.edu 37 1 155829561 155829561 + Missense_Mutation SNP G G C TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr1:155829561G>C ENST00000368324.4 + 1 262 c.9G>C c.(7-9)gaG>gaC p.E3D SYT11_ENST00000539162.1_5'UTR NM_152280.4 NP_689493.3 Q9BT88 SYT11_HUMAN synaptotagmin XI 3 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) ACATGGCTGAGATCACCAATA 0.532000 35 114 0 0 1 0 0 ITPKB 3707 broad.mit.edu 37 1 226923271 226923271 + Missense_Mutation SNP T T C rs146855114 TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr1:226923271T>C ENST00000429204.1 - 2 2216 c.1889A>G c.(1888-1890)aAc>aGc p.N630S ITPKB_ENST00000272117.3_Missense_Mutation_p.N630S|ITPKB_ENST00000366784.1_Missense_Mutation_p.N630S NM_002221.3 NP_002212.3 P27987 IP3KB_HUMAN inositol-trisphosphate 3-kinase B 630 ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1) 30 Prostate(94;0.0773) GAAGGCTGAGTTGGGGTCCAG 0.537000 43 66 0 0 1 0 0 NUP37 79023 broad.mit.edu 37 12 102494875 102494875 + Missense_Mutation SNP T T A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr12:102494875T>A ENST00000552283.1 - 4 428 c.289A>T c.(289-291)Act>Tct p.T97S NUP37_ENST00000543021.1_5'UTR|NUP37_ENST00000251074.1_Missense_Mutation_p.T97S Q8NFH4 NUP37_HUMAN nucleoporin 37kDa 97 carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex protein binding endometrium(3)|large_intestine(3)|lung(10)|ovary(1) 17 GCAGCTGAAGTACAAAATCTG 0.343000 5 12 0 0 1 0 0 ZBTB40 9923 broad.mit.edu 37 1 22835057 22835057 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr1:22835057C>T ENST00000404138.1 + 9 2043 c.1532C>T c.(1531-1533)tCa>tTa p.S511L ZBTB40_ENST00000374651.4_Missense_Mutation_p.S399L|ZBTB40_ENST00000375647.4_Missense_Mutation_p.S511L NM_001083621.1 NP_001077090.1 Q9NUA8 ZBT40_HUMAN zinc finger and BTB domain containing 40 511 bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216) GACTCTGGTTCAGGTGGTTTC 0.493000 28 85 0 0 1 0 0 SLC29A2 3177 broad.mit.edu 37 11 66131809 66131809 + Missense_Mutation SNP C C G TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr11:66131809C>G ENST00000357440.2 - 11 1374 c.1146G>C c.(1144-1146)caG>caC p.Q382H SLC29A2_ENST00000546034.1_Missense_Mutation_p.Q382H|RP11-867G23.8_ENST00000580881.1_Intron|SLC29A2_ENST00000311161.7_Missense_Mutation_p.E338Q|SLC29A2_ENST00000544554.1_Missense_Mutation_p.Q382H NM_001532.2 NP_001523.2 Q14542 S29A2_HUMAN solute carrier family 29 (equilibrative nucleoside transporter), member 2 382 cell proliferation|nucleobase, nucleoside and nucleotide metabolic process basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus nucleoside transmembrane transporter activity breast(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 10 GCCGGGACCTCTGGGGCACGT 0.602000 OREG0021103 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 40 0 0 1 0 0 TOPBP1 11073 broad.mit.edu 37 3 133358956 133358956 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr3:133358956G>A ENST00000260810.5 - 13 2211 c.2080C>T c.(2080-2082)Cat>Tat p.H694Y NM_007027.3 NP_008958.2 Q92547 TOPB1_HUMAN topoisomerase (DNA) II binding protein 1 694 BRCT 5. DNA repair|response to ionizing radiation microtubule organizing center|PML body|spindle pole DNA binding|protein C-terminus binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 40 AGTATAAGATGAGTACTGGCA 0.383000 Other conserved DNA damage response genes 11 24 0 0 1 0 0 TNFRSF10B 8795 broad.mit.edu 37 8 22880323 22880323 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr8:22880323C>T ENST00000276431.4 - 9 1468 c.1184G>A c.(1183-1185)cGa>cAa p.R395Q TNFRSF10B_ENST00000542226.1_Missense_Mutation_p.R215Q|TNFRSF10B_ENST00000347739.3_Missense_Mutation_p.R366Q NM_003842.4|NM_147187.2 NP_003833.4|NP_671716.2 O14763 TR10B_HUMAN tumor necrosis factor receptor superfamily, member 10b 395 Death. activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cell surface receptor linked signaling pathway|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|positive regulation of I-kappaB kinase/NF-kappaB cascade plasma membrane caspase activator activity|receptor activity|TRAIL binding NS(1)|endometrium(2)|large_intestine(7)|liver(1)|lung(3)|skin(1) 15 Prostate(55;0.0421)|Breast(100;0.067) Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703) AGAGGCATCTCGCCCGGTTTT 0.542000 19 22 0 0 1 0 0 RAB3GAP2 25782 broad.mit.edu 37 1 220344286 220344286 + Missense_Mutation SNP C C G TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr1:220344286C>G ENST00000358951.2 - 24 2870 c.2754G>C c.(2752-2754)caG>caC p.Q918H NM_012414.3 NP_036546.2 Q9H2M9 RBGPR_HUMAN RAB3 GTPase activating protein subunit 2 (non-catalytic) 918 intracellular protein transport cytoplasm|soluble fraction GTPase activator activity|protein heterodimerization activity breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1) 39 GBM - Glioblastoma multiforme(131;0.0443) GTGGCTCAGCCTGCAGTGATG 0.418000 12 55 0 0 1 0 0 RAB11FIP3 9727 broad.mit.edu 37 16 569852 569852 + Silent SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr16:569852G>A ENST00000262305.4 + 11 2209 c.1821G>A c.(1819-1821)gaG>gaA p.E607E RAB11FIP3_ENST00000450428.1_Silent_p.E311E|RAB11FIP3_ENST00000457159.1_Silent_p.E652E NM_014700.3 NP_055515.1 O75154 RFIP3_HUMAN RAB11 family interacting protein 3 (class II) 607 cell cycle|cytokinesis|endocytic recycling|protein transport centrosome|cleavage furrow|midbody|recycling endosome membrane ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1) 12 Hepatocellular(16;0.0218) TGAGTCACGAGAGGCACCAGT 0.627000 5 3 0 0 1 0 0 LIMS1 3987 broad.mit.edu 37 2 109294465 109294465 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr2:109294465C>T ENST00000393310.1 + 8 936 c.769C>T c.(769-771)Cgt>Tgt p.R257C LIMS1_ENST00000332345.6_Missense_Mutation_p.R257C|LIMS1_ENST00000542845.1_Missense_Mutation_p.R319C|AC010095.5_ENST00000411710.1_RNA|LIMS1_ENST00000409441.1_Missense_Mutation_p.R294C|LIMS1_ENST00000338045.3_Missense_Mutation_p.R257C|LIMS1_ENST00000544547.1_Missense_Mutation_p.R269C|LIMS1_ENST00000410093.1_Missense_Mutation_p.R261C NM_001193488.1 NP_001180417.1 P48059 LIMS1_HUMAN LIM and senescent cell antigen-like domains 1 257 LIM zinc-binding 5. cell aging|cell junction assembly|cellular response to transforming growth factor beta stimulus|negative regulation of transcription, DNA-dependent cytosol|focal adhesion|perinuclear region of cytoplasm protein binding|zinc ion binding breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4) 10 CCACTGCAATCGTGTTATAGA 0.348000 53 26 0 0 1 0 0 HIPK1 204851 broad.mit.edu 37 1 114512627 114512627 + Missense_Mutation SNP G G T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr1:114512627G>T ENST00000369558.1 + 14 3053 c.2821G>T c.(2821-2823)Gat>Tat p.D941Y HIPK1_ENST00000369553.1_Missense_Mutation_p.D547Y|HIPK1_ENST00000369559.4_Missense_Mutation_p.D941Y|HIPK1_ENST00000340480.4_Missense_Mutation_p.D567Y|HIPK1_ENST00000369555.2_Missense_Mutation_p.D896Y|HIPK1_ENST00000406344.1_Missense_Mutation_p.D547Y|HIPK1_ENST00000369554.2_Missense_Mutation_p.D896Y|HIPK1_ENST00000369561.4_Missense_Mutation_p.D907Y|HIPK1_ENST00000426820.2_Missense_Mutation_p.D941Y Q86Z02 HIPK1_HUMAN homeodomain interacting protein kinase 1 941 Interaction with TP53.|Required for localization to nuclear speckles (By similarity). regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2) 39 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05) 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) CACTGTCAATGATTCTCCAGA 0.443000 21 228 3.85864e-22 4.09573e-22 1 1 0 GABRA4 2557 broad.mit.edu 37 4 46966997 46966997 + Missense_Mutation SNP G G T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr4:46966997G>T ENST00000264318.3 - 8 2106 c.1124C>A c.(1123-1125)gCc>gAc p.A375D NM_000809.3|NM_001204266.1|NM_001204267.1 NP_000800.2|NP_001191195.1|NP_001191196.1 P48169 GBRA4_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 4 375 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) CTGCAGAGGGGCTTCAGGATG 0.408000 17 41 2.94398e-08 3.02272e-08 1 1 0 AHR 196 broad.mit.edu 37 7 17367467 17367467 + Nonsense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr7:17367467C>T ENST00000242057.4 + 4 1088 c.445C>T c.(445-447)Cag>Tag p.Q149* NM_001621.4 NP_001612.1 P35869 AHR_HUMAN aryl hydrocarbon receptor 149 PAS 1. apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process cytosolic aryl hydrocarbon receptor complex|transcription factor complex Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3) 33 Lung NSC(10;0.0392)|all_lung(11;0.0754) TCTAGGGTTTCAGCAGGTAAG 0.294000 9 42 0 0 1 0 0 MFN2 9927 broad.mit.edu 37 1 12062150 12062150 + Missense_Mutation SNP C C G TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr1:12062150C>G ENST00000235329.5 + 11 1472 c.1150C>G c.(1150-1152)Cgg>Ggg p.R384G MFN2_ENST00000444836.1_Missense_Mutation_p.R384G NM_014874.3 NP_055689.1 O95140 MFN2_HUMAN mitofusin 2 384 blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion cytosol|integral to membrane|intrinsic to mitochondrial outer membrane GTP binding|GTPase activity|ubiquitin protein ligase binding endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2) 20 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656) CATGGCGGCTCGGGAGCAGCA 0.592000 22 77 0 0 1 0 0 ANKAR 150709 broad.mit.edu 37 2 190585486 190585486 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr2:190585486C>T ENST00000520309.1 + 12 2696 c.2608C>T c.(2608-2610)Ctt>Ttt p.L870F ANKAR_ENST00000313581.4_Missense_Mutation_p.L870F|ANKAR_ENST00000438402.2_Missense_Mutation_p.L870F|ANKAR_ENST00000431575.2_Missense_Mutation_p.L799F|ANKAR_ENST00000281412.6_Missense_Mutation_p.L634F NM_144708.3 NP_653309.3 Q7Z5J8 ANKAR_HUMAN ankyrin and armadillo repeat containing 870 integral to membrane binding breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2) 46 OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744) CCTCCCATATCTTATCAGATT 0.343000 16 155 0 0 1 0 0 EPHA10 284656 broad.mit.edu 37 1 38185674 38185674 + Silent SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr1:38185674G>A ENST00000373048.4 - 14 2468 c.2469C>T c.(2467-2469)ttC>ttT p.F823F EPHA10_ENST00000427468.2_Silent_p.F823F|EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000540011.1_3'UTR|EPHA10_ENST00000330210.7_Silent_p.F318F NM_001099439.1 NP_001092909.1 Q5JZY3 EPHAA_HUMAN EPH receptor A10 823 Protein kinase. extracellular region|integral to membrane|integral to plasma membrane ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) TGGCAGAGCTGAAGTGGCCAA 0.612000 8 66 0 0 1 0 0 SKOR1 390598 broad.mit.edu 37 15 68126152 68126152 + Missense_Mutation SNP T T G TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr15:68126152T>G ENST00000380035.2 + 9 2934 c.2876T>G c.(2875-2877)tTc>tGc p.F959C RP11-34F13.3_ENST00000558889.1_RNA|SKOR1_ENST00000554240.1_Missense_Mutation_p.F920C|SKOR1_ENST00000341418.5_Missense_Mutation_p.F862C|SKOR1_ENST00000554054.1_Missense_Mutation_p.F931C|SKOR1_ENST00000389002.1_Missense_Mutation_p.F915C P84550 SKOR1_HUMAN SKI family transcriptional corepressor 1 959 negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent cytoplasm|dendrite|neuronal cell body|nucleus nucleotide binding|SMAD binding|transcription repressor activity endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1) 23 AACTGCTCCTTCAAGCCACCG 0.657000 OREG0023216 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 35 0 0 1 0 0 PCBP1 5093 broad.mit.edu 37 2 70314996 70314996 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr2:70314996G>A ENST00000303577.5 + 1 412 c.121G>A c.(121-123)Gag>Aag p.E41K PCBP1-AS1_ENST00000423402.1_RNA|PCBP1-AS1_ENST00000452431.1_RNA|PCBP1-AS1_ENST00000596028.1_RNA NM_006196.3 NP_006187.2 Q15365 PCBP1_HUMAN poly(rC) binding protein 1 41 KH 1. nuclear mRNA splicing, via spliceosome cytoplasm|nucleoplasm|ribonucleoprotein complex protein binding|RNA binding|single-stranded DNA binding endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|skin(1) 12 GAGGATCCGCGAGGAGAGTGG 0.517000 33 87 0 0 1 0 0 KIAA0319L 79932 broad.mit.edu 37 1 35921661 35921661 + Missense_Mutation SNP C C G TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr1:35921661C>G ENST00000325722.3 - 10 1843 c.1609G>C c.(1609-1611)Gag>Cag p.E537Q KIAA0319L_ENST00000485551.1_5'UTR NM_024874.4 NP_079150.3 Q8IZA0 K319L_HUMAN KIAA0319-like 537 PKD 3. cytoplasmic vesicle part|integral to membrane protein binding breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1) 34 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) AGTGACCACTCATAGCTGGTG 0.532000 30 173 0 0 1 0 0 TNKS1BP1 85456 broad.mit.edu 37 11 57089342 57089342 + Silent SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr11:57089342G>A ENST00000532437.1 - 1 329 c.18C>T c.(16-18)ctC>ctT p.L6L TNKS1BP1_ENST00000358252.3_Silent_p.L6L Q9C0C2 TB182_HUMAN tankyrase 1 binding protein 1, 182kDa 6 Arg/Glu/Lys/Pro-rich (charged). nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase cytoskeleton|cytosol|nuclear telomeric heterochromatin ankyrin binding|enzyme binding p.L6L(1) 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) AGCTTTCCCTGAGAGTAGACA 0.597000 18 11 0 0 1 0 0 MYO1B 4430 broad.mit.edu 37 2 192194747 192194747 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr2:192194747G>A ENST00000392318.3 + 4 585 c.338G>A c.(337-339)gGa>gAa p.G113E MYO1B_ENST00000339514.4_Missense_Mutation_p.G113E|MYO1B_ENST00000304164.4_Missense_Mutation_p.G113E|MYO1B_ENST00000392316.1_Missense_Mutation_p.G113E NM_001130158.1 NP_001123630.1 O43795 MYO1B_HUMAN myosin IB 113 Myosin head-like. myosin complex actin binding|ATP binding|calmodulin binding|motor activity NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1) 55 OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236) AGTGGAGCAGGAAAAACAGGT 0.468000 15 123 0 0 1 0 0 ISY1 57461 broad.mit.edu 37 3 128849477 128849477 + Missense_Mutation SNP C C G TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr3:128849477C>G ENST00000393292.3 - 10 731 c.670G>C c.(670-672)Gga>Cga p.G224R ISY1_ENST00000393295.3_Silent_p.S222S|ISY1-RAB43_ENST00000418265.1_Silent_p.S222S|ISY1_ENST00000273541.8_Silent_p.S244S|ISY1_ENST00000471497.1_5'UTR ISY1 splicing factor homolog (S. cerevisiae) endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|skin(1) 15 CTTCCTCGTCCGACTACAAAC 0.488000 10 25 0 0 1 0 0 FRAS1 80144 broad.mit.edu 37 4 79258872 79258872 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr4:79258872G>A ENST00000264895.6 + 20 2763 c.2323G>A c.(2323-2325)Gac>Aac p.D775N FRAS1_ENST00000325942.6_Missense_Mutation_p.D775N NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 775 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 GTTGGAGTCTGACTGCATCTC 0.542000 25 79 0 0 1 0 0 ASPM 259266 broad.mit.edu 37 1 197115395 197115395 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr1:197115395C>T ENST00000367409.4 - 1 429 c.173G>A c.(172-174)gGa>gAa p.G58E ASPM_ENST00000294732.7_Missense_Mutation_p.G58E NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 58 mitosis cytoplasm|nucleus calmodulin binding breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3) 165 CCGTGAGGCTCCCAGGAGAAC 0.652000 142 48 0 0 1 0 0 MAP4K3 8491 broad.mit.edu 37 2 39536602 39536602 + Splice_Site SNP A A G TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr2:39536602A>G ENST00000263881.3 - 14 1380 c.1056T>C c.(1054-1056)ctT>ctC p.L352L MAP4K3_ENST00000437545.1_Splice_Site_p.L289L|MAP4K3_ENST00000536018.1_5'UTR|MAP4K3_ENST00000341681.5_Splice_Site_p.L352L NM_003618.3 NP_003609.2 Q8IVH8 M4K3_HUMAN mitogen-activated protein kinase kinase kinase kinase 3 352 JNK cascade ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 all_hematologic(82;0.211) TACTACTTACAAGTTCATGAT 0.289000 21 37 0 0 1 0 0 KRT76 51350 broad.mit.edu 37 12 53164803 53164803 + Silent SNP C C A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr12:53164803C>A ENST00000332411.2 - 7 1517 c.1464G>T c.(1462-1464)ctG>ctT p.L488L NM_015848.4 NP_056932.2 Q01546 K22O_HUMAN keratin 76 488 Coil 2.|Rod. cytoskeleton organization keratin filament structural molecule activity breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 CTCCCTCCAGCAGCTTGCGGT 0.542000 7 69 8.12818e-05 8.21137e-05 1 1 0 HERC6 55008 broad.mit.edu 37 4 89352367 89352367 + Missense_Mutation SNP C C G TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr4:89352367C>G ENST00000380265.5 + 16 2235 c.2052C>G c.(2050-2052)ttC>ttG p.F684L HERC6_ENST00000264346.7_Missense_Mutation_p.F720L NM_001165136.1 NP_001158608.1 Q8IVU3 HERC6_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 6 720 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytosol ubiquitin-protein ligase activity endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1) 11 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000222) GTTCAGAGTTCTTCCACTGTA 0.393000 29 77 0 0 1 0 0 SERPINA11 256394 broad.mit.edu 37 14 94912904 94912904 + Silent SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr14:94912904C>T ENST00000334708.3 - 3 745 c.681G>A c.(679-681)caG>caA p.Q227Q RP11-349I1.2_ENST00000536735.1_RNA NM_001080451.1 NP_001073920.1 Q86U17 SPA11_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11 227 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1) 24 COAD - Colon adenocarcinoma(157;0.211) TTTCCTGCTTCTGGGTCTGGT 0.478000 30 68 0 0 1 0 0 LAMA3 3909 broad.mit.edu 37 18 21508658 21508658 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr18:21508658G>A ENST00000313654.9 + 64 8606 c.8365G>A c.(8365-8367)Gac>Aac p.D2789N LAMA3_ENST00000269217.6_Missense_Mutation_p.D1180N|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000399516.3_Missense_Mutation_p.D2733N|LAMA3_ENST00000587184.1_Missense_Mutation_p.D1124N NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 2789 Laminin G-like 3. 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) ACCACCTACTGACCACCTCCA 0.428000 27 141 0 0 1 0 0 TCF19 6941 broad.mit.edu 37 6 31129691 31129691 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr6:31129691G>A ENST00000376257.3 + 3 1460 c.706G>A c.(706-708)Gat>Aat p.D236N TCF19_ENST00000376255.4_Missense_Mutation_p.D236N|TCF19_ENST00000496421.1_3'UTR NM_007109.2 NP_009040.2 Q9Y242 TCF19_HUMAN transcription factor 19 236 Pro-rich. cell proliferation|regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1) 9 GGAACTGGATGATGAGAGTGA 0.587000 12 40 0 0 1 0 0 C15orf26 161502 broad.mit.edu 37 15 81428993 81428993 + Missense_Mutation SNP T T C TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr15:81428993T>C ENST00000286732.4 + 3 379 c.296T>C c.(295-297)aTt>aCt p.I99T NM_173528.2 NP_775799.2 Q6P656 CO026_HUMAN chromosome 15 open reading frame 26 99 endometrium(1)|kidney(4)|large_intestine(5)|lung(6)|skin(1) 17 CCAGATGAAATTCAGTCCCAT 0.468000 13 35 0 0 1 0 0 BCAR3 8412 broad.mit.edu 37 1 94048275 94048275 + Silent SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr1:94048275G>A ENST00000370244.1 - 9 1557 c.1269C>T c.(1267-1269)ctC>ctT p.L423L BCAR3_ENST00000370243.1_Silent_p.L423L|BCAR3_ENST00000370247.3_Silent_p.L332L|BCAR3_ENST00000260502.6_Silent_p.L423L|BCAR3_ENST00000466632.1_5'UTR|BCAR3_ENST00000539242.1_Silent_p.L99L NM_001261408.1 NP_001248337.1 O75815 BCAR3_HUMAN breast cancer anti-estrogen resistance 3 423 response to drug|small GTPase mediated signal transduction intracellular guanyl-nucleotide exchange factor activity|protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1) 25 all_lung(203;0.00145)|Lung NSC(277;0.00662) all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166) CCTCTGAGTTGAGCCAGGCAG 0.607000 26 17 0 0 1 0 0 SLIT2 9353 broad.mit.edu 37 4 20550709 20550709 + Missense_Mutation SNP T T A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr4:20550709T>A ENST00000504154.1 + 24 2699 c.2447T>A c.(2446-2448)aTt>aAt p.I816N SLIT2_ENST00000503837.1_Missense_Mutation_p.I812N|SLIT2_ENST00000273739.5_Missense_Mutation_p.I820N|SLIT2_ENST00000503823.1_Missense_Mutation_p.I808N|SLIT2_ENST00000509394.2_3'UTR NM_004787.1 NP_004778.1 O94813 SLIT2_HUMAN slit homolog 2 (Drosophila) 816 apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development cell surface|cytoplasm|extracellular space|plasma membrane calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 116 CTGAGATGTATTCCTCCTCGC 0.353000 32 41 0 0 1 0 0 NTM 50863 broad.mit.edu 37 11 132081933 132081933 + Nonsense_Mutation SNP G G T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr11:132081933G>T ENST00000374786.1 + 3 897 c.418G>T c.(418-420)Gag>Tag p.E140* NTM_ENST00000374791.3_Nonsense_Mutation_p.E140*|NTM_ENST00000539799.1_Nonsense_Mutation_p.E140*|NTM_ENST00000474900.1_3'UTR|NTM_ENST00000374784.1_Nonsense_Mutation_p.E140*|NTM_ENST00000427481.2_Nonsense_Mutation_p.E131*|NTM_ENST00000425719.2_Nonsense_Mutation_p.E140* NM_001144058.1|NM_016522.2 NP_001137530.1|NP_057606.1 Q9P121 NTRI_HUMAN neurotrimin 140 Ig-like C2-type 2. cell adhesion|neuron recognition anchored to membrane|plasma membrane breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 56 CAAAATTGTAGAGATTTCTTC 0.393000 5 17 2.0095e-06 2.03602e-06 1 1 0 DENND4B 9909 broad.mit.edu 37 1 153916545 153916545 + Silent SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr1:153916545G>A ENST00000361217.4 - 2 724 c.306C>T c.(304-306)ctC>ctT p.L102L NM_014856.2 NP_055671.2 O75064 DEN4B_HUMAN DENN/MADD domain containing 4B 102 MABP. NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 36 all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) CCAGCTCAACGAGGGGGGGCT 0.632000 7 14 0 0 1 0 0 NCL 4691 broad.mit.edu 37 2 232320800 232320800 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr2:232320800C>T ENST00000322723.4 - 12 1993 c.1753G>A c.(1753-1755)Gaa>Aaa p.E585K NM_005381.2 NP_005372.2 P19338 NUCL_HUMAN nucleolin 585 RRM 4. angiogenesis cell cortex|nucleolus|ribonucleoprotein complex nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3) 35 Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18) AATGTCTCTTCAGTGGTATCC 0.468000 21 22 0 0 1 0 0 LYL1 4066 broad.mit.edu 37 19 13211879 13211879 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr19:13211879G>A ENST00000264824.4 - 2 467 c.107C>T c.(106-108)tCg>tTg p.S36L NM_005583.4 NP_005574.2 P12980 LYL1_HUMAN lymphoblastic leukemia derived sequence 1 36 B cell differentiation|blood vessel maturation|definitive hemopoiesis|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding cervix(1)|endometrium(2)|kidney(1)|lung(2)|prostate(1) 7 OV - Ovarian serous cystadenocarcinoma(19;6.08e-22) GGGCCCAGGCGAGGCAGGCTT 0.711000 T TRB@ T-ALL 3 2 0 0 1 0 0 ITPR3 3710 broad.mit.edu 37 6 33636793 33636793 + Silent SNP G G T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr6:33636793G>T ENST00000374316.5 + 19 3109 c.2049G>T c.(2047-2049)ctG>ctT p.L683L ITPR3_ENST00000605930.1_Silent_p.L683L Q14573 ITPR3_HUMAN inositol 1,4,5-trisphosphate receptor, type 3 683 activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 ACGAGTACCTGAGCATCGAGT 0.602000 11 36 1.58986e-06 1.61558e-06 1 1 0 ZNF259 8882 broad.mit.edu 37 11 116650538 116650538 + Missense_Mutation SNP T T A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr11:116650538T>A ENST00000227322.3 - 13 1254 c.1195A>T c.(1195-1197)Atg>Ttg p.M399L NM_003904.3 NP_003895.1 O75312 ZPR1_HUMAN zinc finger protein 259 399 cell proliferation|signal transduction cytoplasm|nucleolus breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1) 9 all_hematologic(175;0.0487) all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153) TGGGCCTTCATGTTACCTTCG 0.433000 20 46 0 0 1 0 0 ATE1 11101 broad.mit.edu 37 10 123503368 123503368 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr10:123503368C>T ENST00000369043.3 - 12 1470 c.1384G>A c.(1384-1386)Gag>Aag p.E462K ATE1_ENST00000369040.3_Missense_Mutation_p.E366K|ATE1_ENST00000540606.1_Missense_Mutation_p.E455K|ATE1_ENST00000535655.1_Missense_Mutation_p.E163K|ATE1_ENST00000224652.6_Missense_Mutation_p.E462K|ATE1_ENST00000543447.1_Missense_Mutation_p.E347K NM_007041.2 NP_008972.2 O95260 ATE1_HUMAN arginyltransferase 1 462 protein arginylation cytoplasm|nucleus acyltransferase activity|arginyltransferase activity endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212) CTGCGATCCTCATCCACTGCA 0.368000 15 75 0 0 1 0 0 MYO5C 55930 broad.mit.edu 37 15 52515785 52515785 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr15:52515785C>T ENST00000261839.7 - 29 3744 c.3583G>A c.(3583-3585)Gaa>Aaa p.E1195K NM_018728.3 NP_061198.2 Q9NQX4 MYO5C_HUMAN myosin VC 1195 myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 all cancers(107;0.0137) CGGATGCTTTCATTGATGTCA 0.433000 29 20 0 0 1 0 0 TMEM205 374882 broad.mit.edu 37 19 11456024 11456024 + Silent SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr19:11456024G>A ENST00000354882.5 - 2 594 c.168C>T c.(166-168)ttC>ttT p.F56F TMEM205_ENST00000447337.1_Silent_p.F56F|TMEM205_ENST00000586590.1_Silent_p.F56F|TMEM205_ENST00000589555.1_Silent_p.F56F|CCDC159_ENST00000588790.1_5'UTR|CCDC159_ENST00000587100.1_3'UTR|TMEM205_ENST00000586956.1_Silent_p.F56F|TMEM205_ENST00000588560.1_Silent_p.F56F|RAB3D_ENST00000589655.1_Intron|TMEM205_ENST00000587948.1_Silent_p.F56F|TMEM205_ENST00000593256.2_Silent_p.F56F|TMEM205_ENST00000586218.1_5'UTR Q6UW68 TM205_HUMAN transmembrane protein 205 56 integral to membrane endometrium(1)|lung(1) 2 TGTGGAAGTAGAAGGGGAAGA 0.562000 13 25 0 0 1 0 0 MCM4 4173 broad.mit.edu 37 8 48883359 48883359 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr8:48883359G>A ENST00000262105.2 + 11 1932 c.1723G>A c.(1723-1725)Gag>Aag p.E575K MCM4_ENST00000523944.1_Missense_Mutation_p.E575K NM_005914.3 NP_005905.2 P33991 MCM4_HUMAN minichromosome maintenance complex component 4 575 MCM. cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|DNA binding|helicase activity|protein binding biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 44 all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354) CTGTATCGATGAGTTCGACAA 0.502000 11 30 0 0 1 0 0 PLXNA2 5362 broad.mit.edu 37 1 208252607 208252607 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr1:208252607C>T ENST00000367033.3 - 12 3341 c.2584G>A c.(2584-2586)Gag>Aag p.E862K NM_025179.3 NP_079455.3 O75051 PLXA2_HUMAN plexin A2 862 IPT/TIG 1. axon guidance integral to membrane|intracellular|plasma membrane NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3) 80 OV - Ovarian serous cystadenocarcinoma(81;0.199) GGACTTACCTCGGTGATTTGA 0.567000 10 25 0 0 1 0 0 TBC1D19 55296 broad.mit.edu 37 4 26640456 26640456 + Splice_Site SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr4:26640456G>A ENST00000264866.4 + 6 711 c.433G>A c.(433-435)Gat>Aat p.D145N TBC1D19_ENST00000511789.1_Splice_Site_p.D80N|TBC1D19_ENST00000515568.1_3'UTR NM_018317.2 NP_060787.2 Q8N5T2 TBC19_HUMAN TBC1 domain family, member 19 145 intracellular Rab GTPase activator activity breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1) 17 Breast(46;0.0503) TGATGAACCAGGTATGTGAAC 0.323000 13 29 0 0 1 0 0 TSGA10IP 254187 broad.mit.edu 37 11 65727395 65727395 + RNA SNP C C G TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr11:65727395C>G ENST00000532620.1 + 0 1886 TSGA10IP_ENST00000608857.1_RNA Q3SY00 T10IP_HUMAN testis specific, 10 interacting protein endometrium(2)|kidney(3)|lung(9) 14 AGCCTGGACCCGGAGTGCAGT 0.562000 24 12 0 0 1 0 0 FAM110C 642273 broad.mit.edu 37 2 45532 45532 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr2:45532G>A ENST00000327669.4 - 1 853 c.854C>T c.(853-855)tCg>tTg p.S285L NM_001077710.2 NP_001071178.2 Q1W6H9 F110C_HUMAN family with sequence similarity 110, member C 285 microtubule|microtubule organizing center|spindle pole central_nervous_system(1)|kidney(1)|lung(2) 4 all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.00221) all cancers(51;0.000815)|Epithelial(75;0.00379)|OV - Ovarian serous cystadenocarcinoma(76;0.0127)|GBM - Glioblastoma multiforme(21;0.232) CTCGATGACCGAAGTGGTGCT 0.662000 20 71 0 0 1 0 0 OSBP2 23762 broad.mit.edu 37 22 31285623 31285623 + Splice_Site SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr22:31285623G>A ENST00000332585.6 + 7 1727 c.1623G>A c.(1621-1623)ccG>ccA p.P541P OSBP2_ENST00000535268.1_Splice_Site_p.P85P|OSBP2_ENST00000382310.3_Intron|OSBP2_ENST00000437268.2_Splice_Site_p.P283P|OSBP2_ENST00000446658.2_Splice_Site_p.P540P|OSBP2_ENST00000403222.3_Splice_Site_p.P375P|OSBP2_ENST00000407373.1_Splice_Site_p.P368P|OSBP2_ENST00000401475.1_Splice_Site_p.P174P NM_001282739.1|NM_001282740.1|NM_001282741.1|NM_001282742.1|NM_030758.3 NP_001269668.1|NP_001269669.1|NP_001269670.1|NP_001269671.1|NP_110385.1 Q969R2 OSBP2_HUMAN oxysterol binding protein 2 541 lipid transport membrane lipid binding breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1) 19 TCCCCATGCCGGTGGGTGGCT 0.607000 24 43 0 0 1 0 0 SAYSD1 55776 broad.mit.edu 37 6 39082670 39082670 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr6:39082670C>T ENST00000229903.4 - 1 295 c.196G>A c.(196-198)Ggc>Agc p.G66S SAYSD1_ENST00000481599.1_5'UTR NM_018322.1 NP_060792.1 Q9NPB0 CF064_HUMAN SAYSVFN motif domain containing 1 66 integral to membrane TGAACTAGGCCGGGCTGGGCC 0.662000 12 41 0 0 1 0 0 EIF4H 7458 broad.mit.edu 37 7 73604637 73604637 + Splice_Site SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr7:73604637G>A ENST00000265753.8 + 5 608 c.e5+1 EIF4H_ENST00000495187.1_Splice_Site|EIF4H_ENST00000353999.6_Intron NM_022170.1 NP_071496.1 Q15056 IF4H_HUMAN eukaryotic translation initiation factor 4H interspecies interaction between organisms|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex|perinuclear region of cytoplasm nucleotide binding|protein binding|translation initiation factor activity endometrium(1)|lung(2)|prostate(1) 4 TTCAATTCTGGTATCAGTATT 0.438000 10 55 0 0 1 0 0 SHROOM2 357 broad.mit.edu 37 X 9914831 9914831 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chrX:9914831G>A ENST00000380913.3 + 10 4795 c.4705G>A c.(4705-4707)Gag>Aag p.E1569K SHROOM2_ENST00000418909.2_Missense_Mutation_p.E404K NM_001649.2 NP_001640.1 Q13796 SHRM2_HUMAN shroom family member 2 1569 ASD2. apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization apical plasma membrane|cell-cell adherens junction|microtubule|tight junction actin filament binding|beta-catenin binding|ligand-gated sodium channel activity breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 57 Hepatocellular(5;0.000888) CTATCTGAGCGAGGAGAGCCT 0.562000 5 5 0 0 1 0 0 ST14 6768 broad.mit.edu 37 11 130069911 130069911 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr11:130069911G>A ENST00000278742.5 + 16 2291 c.1873G>A c.(1873-1875)Gag>Aag p.E625K NM_021978.3 NP_068813.1 Q9Y5Y6 ST14_HUMAN suppression of tumorigenicity 14 (colon carcinoma) 625 Peptidase S1. proteolysis integral to plasma membrane serine-type endopeptidase activity central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3) 32 all_hematologic(175;0.0429) Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228) Urokinase(DB00013) GGATGAGGGCGAGTGGCCCTG 0.622000 10 44 0 0 1 0 0 NLRC5 84166 broad.mit.edu 37 16 57111918 57111918 + Missense_Mutation SNP C C A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr16:57111918C>A ENST00000262510.6 + 43 5292 c.5067C>A c.(5065-5067)caC>caA p.H1689Q NLRC5_ENST00000436936.1_3'UTR|NLRC5_ENST00000539144.1_Missense_Mutation_p.H1660Q|NLRC5_ENST00000308149.7_Missense_Mutation_p.H1660Q NM_032206.4 NP_115582.4 Q86WI3 NLRC5_HUMAN NLR family, CARD domain containing 5 1689 defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 75 all_neural(199;0.225) TGCCCCAGCACCTGAGGGTCC 0.662000 16 11 0.00400662 0.0040241 1 1 0 ABCF3 55324 broad.mit.edu 37 3 183908978 183908978 + Missense_Mutation SNP G G A rs75824087 byFrequency TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr3:183908978G>A ENST00000429586.2 + 16 1689 c.1504G>A c.(1504-1506)Gat>Aat p.D502N EIF2B5_ENST00000444495.1_Intron|ABCF3_ENST00000292808.5_Missense_Mutation_p.D496N NM_018358.2 NP_060828.2 Q9NUQ8 ABCF3_HUMAN ATP-binding cassette, sub-family F (GCN20), member 3 502 ABC transporter 2. ATP binding|ATPase activity breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1) 39 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) TTTCTACTACGATCCGAAGCA 0.552000 50 55 0 0 1 0 0 CDHR1 92211 broad.mit.edu 37 10 85965618 85965618 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr10:85965618G>A ENST00000372117.3 + 10 1001 c.898G>A c.(898-900)Gga>Aga p.G300R CDHR1_ENST00000440770.2_Missense_Mutation_p.G59R|CDHR1_ENST00000332904.3_Missense_Mutation_p.G300R NM_033100.2 NP_149091.1 Q96JP9 CDHR1_HUMAN cadherin-related family member 1 300 Cadherin 3. homophilic cell adhesion calcium ion binding|receptor activity breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1) 36 TGAGACATCTGGAGCCATCTC 0.572000 OREG0020333 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 8 0 0 1 0 0 ZNF620 253639 broad.mit.edu 37 3 40553940 40553940 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr3:40553940G>A ENST00000314529.6 + 4 348 c.199G>A c.(199-201)Gaa>Aaa p.E67K ZNF620_ENST00000418905.1_Intron NM_175888.3 NP_787084.1 Q6ZNG0 ZN620_HUMAN zinc finger protein 620 67 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(1)|urinary_tract(1) 11 KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653) GGAGCAAGGGGAACTGCCATG 0.567000 3 9 0 0 1 0 0 LRRCC1 85444 broad.mit.edu 37 8 86057732 86057732 + Missense_Mutation SNP C C G TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr8:86057732C>G ENST00000414626.2 + 18 3914 c.3025C>G c.(3025-3027)Cag>Gag p.Q1009E LRRCC1_ENST00000360375.3_Missense_Mutation_p.Q1029E Q9C099 LRCC1_HUMAN leucine rich repeat and coiled-coil centrosomal protein 1 1029 cell division|mitosis centriole|nucleus breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2) 43 AAATGAAATTCAGCAAGATAT 0.289000 17 64 0 0 1 0 0 XIRP1 165904 broad.mit.edu 37 3 39225860 39225860 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr3:39225860C>T ENST00000340369.3 - 2 5305 c.5077G>A c.(5077-5079)Gat>Aat p.D1693N XIRP1_ENST00000396251.1_3'UTR|XIRP1_ENST00000421646.1_Missense_Mutation_p.D376N NM_194293.2 NP_919269.2 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 1693 Interaction with FLNC. 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) ACTGAGACATCAGGGTTGCCC 0.527000 33 18 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56500398 56500398 + Nonsense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr6:56500398G>A ENST00000370754.5 - 23 3075 c.3076C>T c.(3076-3078)Cag>Tag p.Q1026* DST_ENST00000370788.2_Nonsense_Mutation_p.Q848*|DST_ENST00000361203.3_Nonsense_Mutation_p.Q848*|DST_ENST00000446842.2_Nonsense_Mutation_p.Q522*|DST_ENST00000370769.4_Nonsense_Mutation_p.Q848*|DST_ENST00000370765.6_Nonsense_Mutation_p.Q522*|DST_ENST00000312431.6_Nonsense_Mutation_p.Q848*|DST_ENST00000244364.6_Nonsense_Mutation_p.Q522*|DST_ENST00000421834.2_Nonsense_Mutation_p.Q848*|DST_ENST00000518935.1_Nonsense_Mutation_p.Q522* Q03001 DYST_HUMAN dystonin 848 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) ATTGATTCCTGAACAAGGTCT 0.343000 35 43 0 0 1 0 0 TMIGD1 388364 broad.mit.edu 37 17 28656333 28656333 + Missense_Mutation SNP G G C TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr17:28656333G>C ENST00000328886.4 - 3 369 c.297C>G c.(295-297)atC>atG p.I99M TMIGD1_ENST00000538566.2_Missense_Mutation_p.I99M NM_206832.1 NP_996663.1 Q6UXZ0 TMIG1_HUMAN transmembrane and immunoglobulin domain containing 1 99 Ig-like C2-type 1. integral to membrane breast(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2) 12 AGGTAAAGCTGATTCCGTTGT 0.488000 18 45 0 0 1 0 0 AP5B1 91056 broad.mit.edu 37 11 65545842 65545842 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr11:65545842C>T ENST00000532090.2 - 2 2332 c.2122G>A c.(2122-2124)Gag>Aag p.E708K NM_138368.4 NP_612377.4 Q2VPB7 YK046_HUMAN adaptor-related protein complex 5, beta 1 subunit 651 protein binding lung(1) 1 TGGACAGCCTCCAGGGGTGCA 0.687000 5 18 0 0 1 0 0 PRR16 51334 broad.mit.edu 37 5 119800227 119800227 + Missense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr5:119800227G>A ENST00000407149.2 + 1 255 c.46G>A c.(46-48)Gag>Aag p.E16K PRR16_ENST00000379551.2_5'UTR Q569H4 PRR16_HUMAN proline rich 16 16 endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 28 all_cancers(142;0.0464)|Prostate(80;0.00446) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169) CTGTCCAGCCGAGGGACCGCC 0.612000 5 4 0 0 1 0 0 ZNFX1 57169 broad.mit.edu 37 20 47868155 47868155 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr20:47868155C>T ENST00000396105.1 - 13 3467 c.3221G>A c.(3220-3222)cGt>cAt p.R1074H ZNFX1_ENST00000371752.1_Missense_Mutation_p.R1074H|ZNFX1_ENST00000371754.4_Missense_Mutation_p.R1074H NM_021035.2 NP_066363.1 Q9P2E3 ZNFX1_HUMAN zinc finger, NFX1-type containing 1 1074 metal ion binding cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1) 60 BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) AGGGCACATACGGTGCTGAAA 0.433000 4 44 0 0 1 0 0 ELK4 2005 broad.mit.edu 37 1 205589786 205589786 + Nonsense_Mutation SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr1:205589786G>A ENST00000357992.4 - 3 727 c.388C>T c.(388-390)Cag>Tag p.Q130* ELK4_ENST00000289703.4_Nonsense_Mutation_p.Q130*|ELK4_ENST00000468523.1_5'UTR NM_001973.3 NP_001964.2 ELK4, ETS-domain protein (SRF accessory protein 1) SLC45A3/ELK4(18) breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1) 12 Breast(84;0.07) BRCA - Breast invasive adenocarcinoma(75;0.0908) GCACCAGGCTGAGGTGGTTTA 0.443000 T SLC45A3 prostate 32 22 0 0 1 0 0 IFT81 28981 broad.mit.edu 37 12 110618349 110618349 + Silent SNP A A G TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr12:110618349A>G ENST00000242591.5 + 12 1817 c.1311A>G c.(1309-1311)caA>caG p.Q437Q IFT81_ENST00000552912.1_Silent_p.Q437Q NM_014055.3 NP_054774.2 Q8WYA0 IFT81_HUMAN intraflagellar transport 81 homolog (Chlamydomonas) 437 cell differentiation|multicellular organismal development|spermatogenesis intraflagellar transport particle B|microtubule-based flagellum endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1) 10 TTCTTAAGCAACGTCATGAAA 0.353000 22 13 0 0 1 0 0 TCHH 7062 broad.mit.edu 37 1 152080091 152080091 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr1:152080091C>T ENST00000368804.1 - 2 5601 c.5602G>A c.(5602-5604)Gag>Aag p.E1868K NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 1868 23 X 26 AA approximate tandem repeats. keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TTCTGCTCCTCTTCTTGCCAT 0.597000 27 65 0 0 1 0 0 TMC4 147798 broad.mit.edu 37 19 54666464 54666464 + Silent SNP G G A rs150616659 TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr19:54666464G>A ENST00000376591.4 - 10 1593 c.1462C>T c.(1462-1464)Ctg>Ttg p.L488L TMC4_ENST00000301187.4_Silent_p.L482L|TMC4_ENST00000416963.1_Silent_p.L70L NM_001145303.1|NM_144686.2 NP_001138775|NP_653287.2 Q7Z404 TMC4_HUMAN transmembrane channel-like 4 488 integral to membrane breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1) 22 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) TCAAAGAGCAGAAGTTTGTAC 0.572000 17 24 0 0 1 0 0 RBM24 221662 broad.mit.edu 37 6 17292231 17292231 + Nonsense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr6:17292231C>T ENST00000379052.5 + 4 828 c.592C>T c.(592-594)Cag>Tag p.Q198* RBM24_ENST00000508508.1_3'UTR|RBM24_ENST00000318204.5_Nonsense_Mutation_p.Q153*|RBM24_ENST00000425446.2_Nonsense_Mutation_p.Q140* NM_001143942.1 NP_001137414.1 Q9BX46 RBM24_HUMAN RNA binding motif protein 24 198 Ala-rich. cell differentiation|regulation of mRNA stability|regulation of myotube differentiation cytoplasm|nucleus mRNA 3'-UTR binding|nucleotide binding endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1) 13 Breast(50;0.0615)|Ovarian(93;0.0733) all_hematologic(90;0.062) all cancers(50;0.131)|Epithelial(50;0.15) CTACGCAGTCCAGCAGCCAAT 0.652000 16 13 0 0 1 0 0 KIAA1462 57608 broad.mit.edu 37 10 30318525 30318525 + Silent SNP G G T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr10:30318525G>T ENST00000375377.1 - 3 653 c.552C>A c.(550-552)gtC>gtA p.V184V NM_020848.2 NP_065899.1 Q9P266 K1462_HUMAN KIAA1462 184 breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 75 TTTCCAGGCTGACGTTCTGCC 0.507000 48 105 3.7052e-28 3.94498e-28 1 1 0 KBTBD13 390594 broad.mit.edu 37 15 65370401 65370401 + Silent SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr15:65370401C>T ENST00000432196.2 + 1 1248 c.1248C>T c.(1246-1248)atC>atT p.I416I NM_001101362.2 NP_001094832.1 C9JR72 KBTBD_HUMAN kelch repeat and BTB (POZ) domain containing 13 416 cytoplasm lung(1)|prostate(1)|skin(1) 3 TCTACGCCATCGAGGGCGGCA 0.667000 6 8 0 0 1 0 0 ZNF81 347344 broad.mit.edu 37 X 47775381 47775381 + Missense_Mutation SNP C C G TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chrX:47775381C>G ENST00000376954.1 + 6 1704 c.1336C>G c.(1336-1338)Caa>Gaa p.Q446E ZNF81_ENST00000338637.7_Missense_Mutation_p.Q446E P51508 ZNF81_HUMAN zinc finger protein 81 446 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|large_intestine(1)|lung(1)|skin(1) 4 all_lung(315;0.0973) TATCTGTACTCAATGTGGGCA 0.433000 13 20 0 0 1 0 0 MGAT1 4245 broad.mit.edu 37 5 180218961 180218961 + Missense_Mutation SNP C C A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr5:180218961C>A ENST00000446023.2 - 3 1761 c.1011G>T c.(1009-1011)caG>caT p.Q337H MGAT1_ENST00000307826.4_Missense_Mutation_p.Q337H|MGAT1_ENST00000393340.3_Missense_Mutation_p.Q337H|MGAT1_ENST00000333055.3_Missense_Mutation_p.Q337H|MGAT1_ENST00000427865.2_Missense_Mutation_p.Q337H NM_001114617.1|NM_001114618.1 NP_001108089.1|NP_001108090.1 P26572 MGAT1_HUMAN mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase 337 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1) 13 all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AGTGCACAAACTGCTGGTTCA 0.577000 26 8 1.74197e-06 1.76755e-06 1 1 0 C9orf3 84909 broad.mit.edu 37 9 97522534 97522534 + Missense_Mutation SNP G G C TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr9:97522534G>C ENST00000375315.2 + 1 469 c.469G>C c.(469-471)Gag>Cag p.E157Q C9orf3_ENST00000297979.5_Missense_Mutation_p.E157Q|C9orf3_ENST00000277198.2_Missense_Mutation_p.E157Q NM_001193329.1 NP_001180258.1 Q8N6M6 AMPO_HUMAN chromosome 9 open reading frame 3 157 leukotriene biosynthetic process|proteolysis cytoplasm aminopeptidase activity|metallopeptidase activity|zinc ion binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(323;0.000275) GTTAAAAGTCGAGGAGGTGGA 0.453000 30 66 0 0 1 0 0 DDR1 780 broad.mit.edu 37 6 30865195 30865195 + Silent SNP C C G TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr6:30865195C>G ENST00000324771.8 + 17 2585 c.2037C>G c.(2035-2037)ctC>ctG p.L679L DDR1_ENST00000513240.1_Silent_p.L685L|DDR1_ENST00000452441.1_Silent_p.L679L|DDR1_ENST00000361741.4_Silent_p.L346L|DDR1_ENST00000376568.3_Silent_p.L679L|DDR1_ENST00000376575.3_Silent_p.L685L|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000376570.4_Silent_p.L642L|DDR1_ENST00000454612.2_Silent_p.L642L|DDR1_ENST00000376569.3_Silent_p.L642L|DDR1_ENST00000418800.2_Silent_p.L642L|DDR1_ENST00000376567.2_Silent_p.L642L|DDR1_ENST00000508312.1_Silent_p.L660L Q08345 DDR1_HUMAN discoidin domain receptor tyrosine kinase 1 679 Protein kinase. cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway extracellular region|integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1) 29 Imatinib(DB00619) TGTCGAGGCTCAAGGACCCAA 0.562000 11 34 0 0 1 0 0 DLGAP4 22839 broad.mit.edu 37 20 35128659 35128659 + Silent SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr20:35128659G>A ENST00000373913.3 + 10 2628 c.2148G>A c.(2146-2148)caG>caA p.Q716Q DLGAP4_ENST00000373907.2_Silent_p.Q719Q|DLGAP4_ENST00000340491.4_Silent_p.Q180Q|DLGAP4_ENST00000339266.5_Silent_p.Q719Q|DLGAP4_ENST00000475894.1_3'UTR|DLGAP4_ENST00000401952.2_Silent_p.Q716Q Q9Y2H0 DLGP4_HUMAN discs, large (Drosophila) homolog-associated protein 4 719 cell-cell signaling membrane protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 37 Breast(12;0.0192) Myeloproliferative disorder(115;0.00878) CGGATACCCAGGATGCCAATG 0.617000 14 35 0 0 1 0 0 CELF3 11189 broad.mit.edu 37 1 151682264 151682264 + Missense_Mutation SNP T T A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr1:151682264T>A ENST00000290583.4 - 3 1025 c.232A>T c.(232-234)Aac>Tac p.N78Y CELF3_ENST00000470688.1_5'UTR|CELF3_ENST00000290585.4_Missense_Mutation_p.N78Y NM_001172648.1|NM_007185.4 NP_001166119.1|NP_009116.3 Q5SZQ8 CELF3_HUMAN CUGBP, Elav-like family member 3 78 RRM 1. nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome cytoplasm|nucleus mRNA binding|nucleotide binding central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1) 21 ATCGGCCTGTTCATCTGAAGG 0.637000 23 56 0 0 1 0 0 ACTN1 87 broad.mit.edu 37 14 69369207 69369207 + Missense_Mutation SNP G G C TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr14:69369207G>C ENST00000193403.6 - 8 1132 c.749C>G c.(748-750)tCt>tGt p.S250C ACTN1_ENST00000554508.1_5'UTR|ACTN1_ENST00000376839.3_Missense_Mutation_p.S185C|ACTN1_ENST00000438964.2_Missense_Mutation_p.S250C|ACTN1_ENST00000394419.4_Missense_Mutation_p.S250C|ACTN1_ENST00000538545.2_Missense_Mutation_p.S250C NM_001102.3 NP_001093.1 P12814 ACTN1_HUMAN actinin, alpha 1 250 focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere actin binding|calcium ion binding|integrin binding|vinculin binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1) 27 BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654) CTGGGCTCCAGAGAAGGCGTG 0.577000 19 58 0 0 1 0 0 AMY2A 279 broad.mit.edu 37 1 104160142 104160142 + Missense_Mutation SNP C C A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr1:104160142C>A ENST00000414303.2 + 1 144 c.80C>A c.(79-81)tCt>tAt p.S27Y NM_000699.2 NP_000690.1 P04746 AMYP_HUMAN amylase, alpha 2A (pancreatic) 27 carbohydrate catabolic process|polysaccharide digestion extracellular space alpha-amylase activity|calcium ion binding|chloride ion binding endometrium(3)|kidney(1)|large_intestine(5)|liver(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451) Colorectal(144;0.0654)|all cancers(265;0.0808)|Epithelial(280;0.0921)|Lung(183;0.111) Acarbose(DB00284)|Bentiromide(DB00522)|Icodextrin(DB00702)|Miglitol(DB00491)|Pancrelipase(DB00085) GGACGGACATCTATTGTTCAT 0.433000 36 216 3.50607e-19 3.7101e-19 1 1 0 BCLAF1 9774 broad.mit.edu 37 6 136600973 136600973 + Nonsense_Mutation SNP G G C TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr6:136600973G>C ENST00000531224.1 - 3 284 c.32C>G c.(31-33)tCa>tGa p.S11* BCLAF1_ENST00000392348.2_Nonsense_Mutation_p.S11*|BCLAF1_ENST00000530767.1_Nonsense_Mutation_p.S11*|BCLAF1_ENST00000527759.1_Nonsense_Mutation_p.S11*|BCLAF1_ENST00000527536.1_Nonsense_Mutation_p.S11*|BCLAF1_ENST00000353331.4_Nonsense_Mutation_p.S11* NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 11 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) CTTTGACCTTGAAGAATGTGA 0.308000 8 121 0 0 1 0 0 SRGAP3 9901 broad.mit.edu 37 3 9166485 9166485 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr3:9166485C>T ENST00000383836.3 - 2 611 c.184G>A c.(184-186)Gag>Aag p.E62K SRGAP3_ENST00000360413.3_Missense_Mutation_p.E62K|SRGAP3_ENST00000433332.3_5'UTR NM_014850.3 NP_055665.1 O43295 SRGP2_HUMAN SLIT-ROBO Rho GTPase activating protein 3 62 FCH. 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) CGGGAGTACTCGAGCTCAATC 0.562000 T RAF1 pilocytic astrocytoma 14 29 0 0 1 0 0 RP11-909M7.3 0 broad.mit.edu 37 14 101448375 101448375 + RNA SNP G G T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr14:101448375G>T ENST00000554693.2 + 0 635 SNORD114-21_ENST00000606412.1_RNA CTGGAACTCTGAGGTCCACCA 0.393000 8 62 0.0477658 0.047835 1 1 0 PLB1 151056 broad.mit.edu 37 2 28805334 28805334 + Nonsense_Mutation SNP C C G TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr2:28805334C>G ENST00000422425.2 + 24 1706 c.1662C>G c.(1660-1662)taC>taG p.Y554* PLB1_ENST00000327757.5_Nonsense_Mutation_p.Y565*|PLB1_ENST00000329020.6_Nonsense_Mutation_p.Y253* NM_001170585.1 NP_001164056.1 Q6P1J6 PLB1_HUMAN phospholipase B1 565 4 X 308-326 AA approximate repeats. lipid catabolic process|retinoid metabolic process|steroid metabolic process apical plasma membrane|integral to membrane lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2) 69 Acute lymphoblastic leukemia(172;0.155) GGGAGCTGTACCAGGAGAAAA 0.517000 15 7 0 0 1 0 0 LRRC37A4P 55073 broad.mit.edu 37 17 43587576 43587576 + RNA SNP A A G rs145439557 by1000genomes TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr17:43587576A>G ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA tctgaaaagaaaagaaaaaaa 0.428000 4 45 0 0 1 0 0 CCDC158 339965 broad.mit.edu 37 4 77252544 77252544 + Silent SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr4:77252544C>T ENST00000388914.3 - 20 3035 c.2883G>A c.(2881-2883)tcG>tcA p.S961S NM_001042784.1 NP_001036249.1 Q5M9N0 CD158_HUMAN coiled-coil domain containing 158 961 Ser-rich. breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1) 56 AGTCCCTCAACGAGTTGTTGC 0.363000 23 79 0 0 1 0 0 DYRK1B 9149 broad.mit.edu 37 19 40318964 40318964 + Missense_Mutation SNP G G C TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr19:40318964G>C ENST00000593685.1 - 6 1248 c.780C>G c.(778-780)ttC>ttG p.F260L DYRK1B_ENST00000597639.1_Missense_Mutation_p.F260L|DYRK1B_ENST00000323039.5_Missense_Mutation_p.F260L|DYRK1B_ENST00000430012.2_Missense_Mutation_p.F260L|DYRK1B_ENST00000348817.3_Missense_Mutation_p.F260L Q9Y463 DYR1B_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B 260 Protein kinase. positive regulation of transcription, DNA-dependent nucleus ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity p.F260F(1) central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 24 all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06) Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23) AGGAGCTGCCGAAGTCCACAA 0.627000 7 39 0 0 1 0 0 CNKSR2 22866 broad.mit.edu 37 X 21667011 21667011 + Missense_Mutation SNP G G C TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chrX:21667011G>C ENST00000425654.2 + 20 3145 c.2665G>C c.(2665-2667)Gcc>Ccc p.A889P CNKSR2_ENST00000379510.3_Missense_Mutation_p.A919P NM_001168647.1 NP_001162118.1 Q8WXI2 CNKR2_HUMAN connector enhancer of kinase suppressor of Ras 2 919 regulation of signal transduction cytoplasm|membrane protein binding breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3) 61 ACTGGAGCAGGCCAGTCTGTC 0.343000 26 42 0 0 1 0 0 GPX3 2878 broad.mit.edu 37 5 150407494 150407494 + Missense_Mutation SNP C C T TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr5:150407494C>T ENST00000388825.4 + 5 576 c.484C>T c.(484-486)Ctc>Ttc p.L162F GPX3_ENST00000517973.1_3'UTR NM_002084.3 NP_002075.2 P22352 GPX3_HUMAN glutathione peroxidase 3 (plasma) 162 hydrogen peroxide catabolic process|protein homotetramerization|response to lipid hydroperoxide extracellular space glutathione peroxidase activity|selenium binding|transcription factor binding kidney(1)|large_intestine(3)|lung(1)|skin(1) 6 Medulloblastoma(196;0.091)|all_hematologic(541;0.207) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Glutathione(DB00143) CACCTCGGAGCTCCTGGGTAC 0.572000 19 17 0 0 1 0 0 SPTY2D1 144108 broad.mit.edu 37 11 18636988 18636988 + Missense_Mutation SNP G G C TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr11:18636988G>C ENST00000336349.5 - 3 1068 c.833C>G c.(832-834)tCt>tGt p.S278C NM_194285.2 NP_919261.2 Q68D10 SPT2_HUMAN SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae) 278 Ser-rich. breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1) 30 TTTGGATGAAGACAAAGCGAG 0.502000 25 73 0 0 1 0 0 PLEKHN1 84069 broad.mit.edu 37 1 905726 905727 + Frame_Shift_Ins INS - - GG TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr1:905726_905727insGG ENST00000379409.2 + 3 283_284 c.253_254insGG c.(253-255)cggfs p.R85fs PLEKHN1_ENST00000379410.3_Frame_Shift_Ins_p.R85fs|PLEKHN1_ENST00000379407.3_Frame_Shift_Ins_p.R85fs Q494U1 PKHN1_HUMAN pleckstrin homology domain containing, family N member 1 85 central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1) 9 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;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199) CAAGAAGGGGCGGCGGAGGGTG 0.624 13 43 --- --- --- --- ZNF593 51042 broad.mit.edu 37 1 26497082 26497094 + Frame_Shift_Del DEL GTCGAGCCCTACA GTCGAGCCCTACA - rs137855017 TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr1:26497082_26497094delGTCGAGCCCTACA ENST00000270812.5 + 2 416_428 c.374_386delGTCGAGCCCTACA c.(373-387)cgtcgagccctacagfs p.RRALQ125fs RP11-96L14.7_ENST00000433939.1_RNA|RP11-96L14.7_ENST00000414762.1_RNA|RP11-96L14.7_ENST00000444682.1_RNA|RP11-96L14.7_ENST00000407889.2_RNA|RP11-96L14.7_ENST00000448923.1_RNA|ZNF593_ENST00000374266.5_Frame_Shift_Del_p.VEPYS94fs O00488 ZN593_HUMAN zinc finger protein 593 0 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleolus DNA binding|transcription corepressor activity|zinc ion binding p.P96S(1) large_intestine(4)|prostate(1) 5 Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|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;2.38e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649) GCAGCTGAGCGTCGAGCCCTACAGTCAGGAAGA 0.596 15 73 --- --- --- --- ZNF281 23528 broad.mit.edu 37 1 200378732 200378734 + In_Frame_Del DEL GCC GCC - TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr1:200378732_200378734delGCC ENST00000294740.3 - 2 224_226 c.100_102delGGC c.(100-102)ggcdel p.G34del ZNF281_ENST00000367352.3_In_Frame_Del_p.G34del|ZNF281_ENST00000367353.1_In_Frame_Del_p.G34del NM_001281293.1|NM_001281294.1|NM_012482.4 NP_001268222.1|NP_001268223.1|NP_036614.1 Q9Y2X9 ZN281_HUMAN zinc finger protein 281 Gly-rich. negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 27 Tgccgctgctgccgccgccgccg 0.680 2 4 --- --- --- --- SEMA3F 6405 broad.mit.edu 37 3 50223330 50223355 + Frame_Shift_Del DEL CTACGTGGCGTCAGCCGTGGGTGTCA CTACGTGGCGTCAGCCGTGGGTGTCA - TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr3:50223330_50223355delCTACGTGGCGTCAGCCGTGGGTGTCA ENST00000002829.3 + 16 2080_2105 c.1596_1621delCTACGTGGCGTCAGCCGTGGGTGTCA c.(1594-1623)ctctacgtggcgtcagccgtgggtgtcacafs p.YVASAVGVT533fs SEMA3F_ENST00000413852.1_Frame_Shift_Del_p.YVASAVGVT434fs|SEMA3F_ENST00000434342.1_Frame_Shift_Del_p.YVASAVGVT502fs NM_004186.3 NP_004177.3 Q13275 SEM3F_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F 533 Sema. axon guidance extracellular space|membrane chemorepellent activity|receptor activity central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2) 17 BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688) AGCAACAACTCTACGTGGCGTCAGCCGTGGGTGTCACACACCTGAG 0.646 7 49 --- --- --- --- E2F3 1871 broad.mit.edu 37 6 20402595 20402597 + In_Frame_Del DEL CGC CGC - TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr6:20402595_20402597delCGC ENST00000346618.3 + 1 198_200 c.132_134delCGC c.(130-135)ttcgcc>ttc p.A53del NM_001949.4 NP_001940.1 O00716 E2F3_HUMAN E2F transcription factor 3 53 Poly-Ala. G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter transcription factor complex DNA binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3) 7 all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148) OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562) GCCCCGGCTTcgccgccgccgcc 0.724 9 457 --- --- --- --- ZAN 7455 broad.mit.edu 37 7 100360042 100360042 + RNA DEL C C - rs3857808 TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr7:100360042delC ENST00000542585.1 + 0 4134 ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) CTGGAACtctctttttttttt 0.557 5 11 --- --- --- --- BEST3 144453 broad.mit.edu 37 12 70091534 70091534 + Frame_Shift_Del DEL A A - TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr12:70091534delA ENST00000330891.5 - 2 271 c.45delT c.(43-45)tttfs p.F15fs BEST3_ENST00000266661.4_Intron|BEST3_ENST00000331471.4_Frame_Shift_Del_p.F15fs|BEST3_ENST00000533674.1_Intron|BEST3_ENST00000393365.1_5'UTR|BEST3_ENST00000553096.1_Intron|BEST3_ENST00000476098.1_Intron|BEST3_ENST00000551160.1_Intron NM_001282613.1|NM_032735.2 NP_001269542.1|NP_116124.2 Q8N1M1 BEST3_HUMAN bestrophin 3 15 chloride channel complex|plasma membrane chloride channel activity cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2) 12 Breast(13;2.31e-06)|Esophageal squamous(21;0.187) Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694) TATGAAATCCAAAAAAAGTTG 0.353 10 3060 --- --- --- --- HERC2P2 400322 broad.mit.edu 37 15 23299147 23299147 + RNA DEL A A - TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr15:23299147delA ENST00000560464.1 - 0 4510 ACATTCAAAGAAAAAAAAAAA 0.313 2 4 --- --- --- --- E4F1 1877 broad.mit.edu 37 16 2285495 2285495 + Frame_Shift_Del DEL C C - TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr16:2285495delC ENST00000301727.4 + 14 2325 c.2277delC c.(2275-2277)atcfs p.I759fs E4F1_ENST00000564139.1_3'UTR|E4F1_ENST00000565090.1_Frame_Shift_Del_p.I582fs NM_004424.3 NP_004415.2 Q66K89 E4F1_HUMAN E4F transcription factor 1 759 cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth cytoplasm|nucleoplasm DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding ovary(1) 1 CAGAGGACATCGAGATCCTGG 0.652 16 5 --- --- --- --- MEFV 4210 broad.mit.edu 37 16 3306483 3306485 + In_Frame_Del DEL CTT CTT - TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr16:3306483_3306485delCTT ENST00000219596.1 - 1 142_144 c.103_105delAAG c.(103-105)aagdel p.K35del MEFV_ENST00000536379.1_In_Frame_Del_p.K35del|MEFV_ENST00000339854.4_In_Frame_Del_p.K35del|MEFV_ENST00000541159.1_In_Frame_Del_p.K35del NM_000243.2 NP_000234.1 O15553 MEFV_HUMAN Mediterranean fever 35 DAPIN. inflammatory response cytoplasm|microtubule|microtubule associated complex|nucleus actin binding|zinc ion binding NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6) 50 Colchicine(DB01394) TGGAGTGCTCCTTCTGCACACTG 0.586 7 44 --- --- --- --- RLTPR 146206 broad.mit.edu 37 16 67685308 67685309 + Frame_Shift_Ins INS - - C TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr16:67685308_67685309insC ENST00000334583.6 + 24 2646_2647 c.2318_2319insC c.(2317-2322)ctccccfs p.LP773fs RLTPR_ENST00000545661.1_Frame_Shift_Ins_p.LP737fs NM_001013838.1 NP_001013860.1 Q6F5E8 LR16C_HUMAN RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing 773 breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2) 18 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232) CCTCAGATTCTCCCCATTCTAT 0.584 10 24 --- --- --- --- PDXDC2P 283970 broad.mit.edu 37 16 70066043 70066043 + RNA DEL A A - TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr16:70066043delA ENST00000531894.1 - 0 751 NR_003610.1 AGCCAAGCCGAAAAAAAAAAA 0.289 3 6 --- --- --- --- MYO1F 4542 broad.mit.edu 37 19 8618223 8618246 + Splice_Site DEL CCTCGTCTCACCTGGACCTTCTCG CCTCGTCTCACCTGGACCTTCTCG - TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 Untested Somatic Phase_I WXS none Illumina GAIIx 857b765b-8418-4017-b39e-603257cf4b7d b35c36fe-b1ab-4ddf-8f3e-22596793c1c0 g.chr19:8618223_8618246delCCTCGTCTCACCTGGACCTTCTCG ENST00000338257.8 - 5 669_682 c.402_415delCGAGAAGGTCCAGGTGAGACGAGG c.(400-417)ggcgagaaggtccaggtg>ggtg p.EKVQV135del NM_012335.3 NP_036467.2 O00160 MYO1F_HUMAN myosin IF 135 Myosin head-like. unconventional myosin complex actin binding|ATP binding|calmodulin binding|motor activity p.G134G(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1) 42 CTTCTGTTTTCCTCGTCTCACCTGGACCTTCTCGCCTCCGCCAG 0.558 14 53 --- --- --- ---