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 TTLL10 254173 broad.mit.edu 37 1 1120451 1120451 + Missense_Mutation SNP C T T TCGA-26-1439-01A-01D-1353-08 TCGA-26-1439-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0d78dbfc-db49-42a2-a399-593c4b0839ff 07608301-2532-446d-acff-641e40d2e038 g.chr1:1120451C>T uc001acy.2 + 13 1514 c.1363C>T c.(1363-1365)CGG>TGG p.R455W TTLL10_uc010nyg.1_Missense_Mutation_p.R455W|TTLL10_uc001acz.1_Missense_Mutation_p.R382W NM_001130045 NP_001123517 Q6ZVT0 TTL10_HUMAN tubulin tyrosine ligase-like family, member 10 455 TTL. protein modification process ATP binding|tubulin-tyrosine ligase activity large_intestine(1) 1 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) Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) CTGGAAGGCCCGGGGCCTCGC 0.612 SPEN 23013 broad.mit.edu 37 1 16255142 16255143 + Frame_Shift_Del DEL GA - - TCGA-26-1439-01A-01D-1353-08 TCGA-26-1439-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0d78dbfc-db49-42a2-a399-593c4b0839ff 07608301-2532-446d-acff-641e40d2e038 g.chr1:16255142_16255143delGA uc001axk.1 + 11 2611_2612 c.2407_2408delGA c.(2407-2409)GAGfs p.E803fs SPEN_uc010obp.1_Frame_Shift_Del_p.E762fs NM_015001 NP_055816 Q96T58 MINT_HUMAN spen homolog, transcriptional regulator 803 Arg-rich. interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding ovary(6)|breast(3)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 15 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) GGAGAGAGTGGAGAGAGAGAGA 0.431 ADC 113451 broad.mit.edu 37 1 33583680 33583681 + Frame_Shift_Ins INS - C C TCGA-26-1439-01A-01D-1353-08 TCGA-26-1439-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0d78dbfc-db49-42a2-a399-593c4b0839ff 07608301-2532-446d-acff-641e40d2e038 g.chr1:33583680_33583681insC uc001bwr.2 + 11 1794_1795 c.1207_1208insC c.(1207-1209)GCCfs p.A403fs ADC_uc001bws.2_Frame_Shift_Ins_p.A403fs|ADC_uc009vue.2_Frame_Shift_Ins_p.A403fs|ADC_uc001bwt.1_Frame_Shift_Ins_p.A308fs|ADC_uc001bwu.2_Frame_Shift_Ins_p.A308fs|ADC_uc001bwv.2_Frame_Shift_Ins_p.A308fs|ADC_uc001bww.2_Frame_Shift_Ins_p.A308fs|ADC_uc001bwx.1_Frame_Shift_Ins_p.A380fs|ADC_uc009vug.2_Frame_Shift_Ins_p.A423fs NM_052998 NP_443724 Q96A70 ADC_HUMAN ODC antizyme inhibitor-2 403 polyamine biosynthetic process|spermatogenesis cytosol arginine decarboxylase activity ovary(2) 2 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837) L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114) GGGGACCCAGGCCTGCCACATC 0.614 TCHH 7062 broad.mit.edu 37 1 152081494 152081494 + Missense_Mutation SNP C T T TCGA-26-1439-01A-01D-1353-08 TCGA-26-1439-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0d78dbfc-db49-42a2-a399-593c4b0839ff 07608301-2532-446d-acff-641e40d2e038 g.chr1:152081494C>T uc001ezp.2 - 2 4199 c.4199G>A c.(4198-4200)CGC>CAC p.R1400H TCHH_uc009wne.1_Missense_Mutation_p.R1400H NM_007113 NP_009044 Q07283 TRHY_HUMAN trichohyalin 1400 23 X 26 AA approximate tandem repeats. R -> P (found in a renal cell carcinoma sample; somatic mutation). keratinization cytoskeleton calcium ion binding p.R1400P(1) ovary(3)|kidney(1)|central_nervous_system(1) 5 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTCCTGGCAGCGCAGCTGCTG 0.587 PCP4L1 654790 broad.mit.edu 37 1 161253488 161253488 + Nonsense_Mutation SNP C T T TCGA-26-1439-01A-01D-1353-08 TCGA-26-1439-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0d78dbfc-db49-42a2-a399-593c4b0839ff 07608301-2532-446d-acff-641e40d2e038 g.chr1:161253488C>T uc001gad.2 + 2 288 c.40C>T c.(40-42)CAG>TAG p.Q14* NM_001102566 NP_001096036 A6NKN8 PC4L1_HUMAN Purkinje cell protein 4 like 1 14 0 all_cancers(52;4.16e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00376) AGCAACCAACCAGGCAGCTGG 0.428 CACNA1E 777 broad.mit.edu 37 1 181680102 181680103 + Frame_Shift_Del DEL AG - - TCGA-26-1439-01A-01D-1353-08 TCGA-26-1439-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0d78dbfc-db49-42a2-a399-593c4b0839ff 07608301-2532-446d-acff-641e40d2e038 g.chr1:181680102_181680103delAG uc001gow.2 + 8 1233_1234 c.1068_1069delAG c.(1066-1071)AAAGAGfs p.K356fs CACNA1E_uc009wxs.2_Frame_Shift_Del_p.K263fs NM_000721 NP_000712 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, 356_357 Cytoplasmic (Potential). energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity ovary(3)|central_nervous_system(2)|pancreas(1) 6 AATTTGCCAAAGAGAGAGAGAG 0.510 NMNAT2 23057 broad.mit.edu 37 1 183261948 183261948 + Silent SNP G A A rs138225647 TCGA-26-1439-01A-01D-1353-08 TCGA-26-1439-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0d78dbfc-db49-42a2-a399-593c4b0839ff 07608301-2532-446d-acff-641e40d2e038 g.chr1:183261948G>A uc001gqc.1 - 3 554 c.219C>T c.(217-219)GCC>GCT p.A73A NMNAT2_uc001gqb.1_Silent_p.A68A|NMNAT2_uc001gqd.2_5'Flank NM_015039 NP_055854 Q9BZQ4 NMNA2_HUMAN nicotinamide mononucleotide adenylyltransferase 73 water-soluble vitamin metabolic process Golgi membrane|nucleus ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity skin(1) 1 AATTCTGGACGGCCAGCTGAC 0.562 AKR1C4 1109 broad.mit.edu 37 10 5254979 5254979 + Missense_Mutation SNP C A A TCGA-26-1439-01A-01D-1353-08 TCGA-26-1439-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0d78dbfc-db49-42a2-a399-593c4b0839ff 07608301-2532-446d-acff-641e40d2e038 g.chr10:5254979C>A uc001ihw.2 + 7 736 c.703C>A c.(703-705)CTT>ATT p.L235I NM_001818 NP_001809 P17516 AK1C4_HUMAN aldo-keto reductase family 1, member C4 235 NADP. androgen metabolic process|bile acid biosynthetic process cytosol aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid transmembrane transporter activity|chlordecone reductase activity|electron carrier activity ovary(1) 1 NADH(DB00157) CTCCCCAGTTCTTTTGGAGGA 0.527 HPS6 79803 broad.mit.edu 37 10 103825336 103825336 + Silent SNP T C C TCGA-26-1439-01A-01D-1353-08 TCGA-26-1439-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0d78dbfc-db49-42a2-a399-593c4b0839ff 07608301-2532-446d-acff-641e40d2e038 g.chr10:103825336T>C uc001kuj.2 + 1 190 c.105T>C c.(103-105)CGT>CGC p.R35R NM_024747 NP_079023 Q86YV9 HPS6_HUMAN Hermansky-Pudlak syndrome-6 35 cytosol|early endosome membrane|endoplasmic reticulum|microsome 0 Colorectal(252;0.122) Epithelial(162;5.93e-08)|all cancers(201;1.03e-06) TCCGAGTCCGTGGCAGTCCGG 0.756 Hermansky-Pudlak_syndrome NPAS4 266743 broad.mit.edu 37 11 66192484 66192484 + Missense_Mutation SNP C T T TCGA-26-1439-01A-01D-1353-08 TCGA-26-1439-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0d78dbfc-db49-42a2-a399-593c4b0839ff 07608301-2532-446d-acff-641e40d2e038 g.chr11:66192484C>T uc001ohx.1 + 7 2299 c.2123C>T c.(2122-2124)ACG>ATG p.T708M NPAS4_uc010rpc.1_Missense_Mutation_p.T498M NM_178864 NP_849195 Q8IUM7 NPAS4_HUMAN neuronal PAS domain protein 4 708 transcription, DNA-dependent DNA binding|signal transducer activity 0 CTGGAAGAGACGCCCGTGGAA 0.612 CABP4 57010 broad.mit.edu 37 11 67225127 67225127 + Nonsense_Mutation SNP C T T TCGA-26-1439-01A-01D-1353-08 TCGA-26-1439-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0d78dbfc-db49-42a2-a399-593c4b0839ff 07608301-2532-446d-acff-641e40d2e038 g.chr11:67225127C>T uc001olo.2 + 4 702 c.625C>T c.(625-627)CGA>TGA p.R209* CABP4_uc001oln.2_Nonsense_Mutation_p.R104* NM_145200 NP_660201 P57796 CABP4_HUMAN calcium binding protein 4 209 EF-hand 3. visual perception cytoplasm|extracellular region|terminal button calcium ion binding 0 BRCA - Breast invasive adenocarcinoma(15;8.18e-06) GCTGGGGGTGCGAGAGCTGCG 0.637 SORL1 6653 broad.mit.edu 37 11 121424742 121424742 + Missense_Mutation SNP G A A TCGA-26-1439-01A-01D-1353-08 TCGA-26-1439-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0d78dbfc-db49-42a2-a399-593c4b0839ff 07608301-2532-446d-acff-641e40d2e038 g.chr11:121424742G>A uc001pxx.2 + 17 2443 c.2363G>A c.(2362-2364)CGG>CAG p.R788Q NM_003105 NP_003096 Q92673 SORL_HUMAN sortilin-related receptor containing LDLR class 788 Extracellular (Potential). cholesterol metabolic process|lipid transport|receptor-mediated endocytosis integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|transmembrane receptor activity ovary(5)|breast(4)|large_intestine(2)|skin(2)|central_nervous_system(1)|pancreas(1) 15 Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113) BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108) ACCGGGCTACGGGCAGCAGTG 0.562 TFDP1 7027 broad.mit.edu 37 13 114294537 114294537 + Silent SNP C T T TCGA-26-1439-01A-01D-1353-08 TCGA-26-1439-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0d78dbfc-db49-42a2-a399-593c4b0839ff 07608301-2532-446d-acff-641e40d2e038 g.chr13:114294537C>T uc001vtw.2 + 12 1400 c.1188C>T c.(1186-1188)GAC>GAT p.D396D TFDP1_uc010tkd.1_Silent_p.D297D|TFDP1_uc010tke.1_Silent_p.D367D|TFDP1_uc001vty.3_Silent_p.D392D|TFDP1_uc001vtx.2_3'UTR NM_007111 NP_009042 Q14186 TFDP1_HUMAN transcription factor Dp-1 396 Asp/Glu-rich (acidic; NCB domain). cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter transcription factor complex DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding lung(4)|ovary(2)|skin(1) 7 Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153) all cancers(43;0.0576) tcggggaggacgacgaggagg 0.378 TSP Lung(29;0.18) CDC42BPB 9578 broad.mit.edu 37 14 103523372 103523372 + Missense_Mutation SNP G A A TCGA-26-1439-01A-01D-1353-08 TCGA-26-1439-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0d78dbfc-db49-42a2-a399-593c4b0839ff 07608301-2532-446d-acff-641e40d2e038 g.chr14:103523372G>A uc001ymi.1 - 1 371 c.139C>T c.(139-141)CGC>TGC p.R47C NM_006035 NP_006026 Q9Y5S2 MRCKB_HUMAN CDC42-binding protein kinase beta 47 actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm|cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1) 11 Melanoma(154;0.155) Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199) TTGTCGCGGCGCAGGGCCGAG 0.721 ADAM6 8755 broad.mit.edu 37 14 107099305 107099305 + Splice_Site SNP T C C rs117541988 by1000genomes TCGA-26-1439-01A-01D-1353-08 TCGA-26-1439-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0d78dbfc-db49-42a2-a399-593c4b0839ff 07608301-2532-446d-acff-641e40d2e038 g.chr14:107099305T>C uc010tyt.1 - 96 c.4457_splice c.e96+1 Parts of antibodies, mostly variable regions. 0 AAACCCTTTCTTGGAGCCTGG 0.542 KIAA1370 56204 broad.mit.edu 37 15 52902145 52902145 + Silent SNP A G G TCGA-26-1439-01A-01D-1353-08 TCGA-26-1439-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0d78dbfc-db49-42a2-a399-593c4b0839ff 07608301-2532-446d-acff-641e40d2e038 g.chr15:52902145A>G uc002acg.3 - 6 1119 c.966T>C c.(964-966)GGT>GGC p.G322G KIAA1370_uc002ach.3_RNA|KIAA1370_uc010bfg.1_Silent_p.G234G|KIAA1370_uc010ugf.1_Silent_p.G329G NM_019600 NP_062546 Q32MH5 K1370_HUMAN hypothetical protein LOC56204 322 0 all cancers(107;0.0803) TATCACCTATACCACTAAAGC 0.383 ANPEP 290 broad.mit.edu 37 15 90349552 90349552 + Missense_Mutation SNP G A A TCGA-26-1439-01A-01D-1353-08 TCGA-26-1439-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0d78dbfc-db49-42a2-a399-593c4b0839ff 07608301-2532-446d-acff-641e40d2e038 g.chr15:90349552G>A uc002bop.3 - 2 555 c.263C>T c.(262-264)ACG>ATG p.T88M NM_001150 NP_001141 P15144 AMPN_HUMAN membrane alanine aminopeptidase precursor 88 Extracellular.|Metalloprotease. angiogenesis|cell differentiation|interspecies interaction between organisms cytosol|ER-Golgi intermediate compartment|integral to plasma membrane aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding ovary(3)|skin(1) 4 Lung NSC(78;0.0221)|all_lung(78;0.0448) BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169) Ezetimibe(DB00973) CGGTCTCAGCGTCACCCGGTA 0.597 NOD2 64127 broad.mit.edu 37 16 50745689 50745689 + Missense_Mutation SNP C G G TCGA-26-1439-01A-01D-1353-08 TCGA-26-1439-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0d78dbfc-db49-42a2-a399-593c4b0839ff 07608301-2532-446d-acff-641e40d2e038 g.chr16:50745689C>G uc002egm.1 + 4 1972 c.1867C>G c.(1867-1869)CCA>GCA p.P623A NOD2_uc010cbk.1_Missense_Mutation_p.P596A|NOD2_uc002egl.1_Missense_Mutation_p.P401A|NOD2_uc010cbl.1_Missense_Mutation_p.P401A|NOD2_uc010cbm.1_Missense_Mutation_p.P401A|NOD2_uc010cbn.1_RNA|NOD2_uc010cbo.1_RNA|NOD2_uc010cbp.1_5'Flank|NOD2_uc010cbq.1_5'Flank|NOD2_uc010cbr.1_5'Flank NM_022162 NP_071445 Q9HC29 NOD2_HUMAN nucleotide-binding oligomerization domain 623 activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cell surface|cytosol|plasma membrane|vesicle ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding ovary(3)|skin(1) 4 all_cancers(37;0.0156) TGATGTGCCACCAGCTTTGCT 0.582 NUP93 9688 broad.mit.edu 37 16 56865910 56865910 + Silent SNP G A A TCGA-26-1439-01A-01D-1353-08 TCGA-26-1439-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0d78dbfc-db49-42a2-a399-593c4b0839ff 07608301-2532-446d-acff-641e40d2e038 g.chr16:56865910G>A uc002eka.2 + 11 1363 c.1242G>A c.(1240-1242)CTG>CTA p.L414L NUP93_uc002ekb.2_Silent_p.L291L|NUP93_uc010vhi.1_Silent_p.L291L NM_014669 NP_055484 Q8N1F7 NUP93_HUMAN nucleoporin 93kDa 414 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding ovary(1)|lung(1) 2 AGGATTACCTGTGGCTGAAGG 0.502 CDYL2 124359 broad.mit.edu 37 16 80718650 80718650 + Missense_Mutation SNP G A A TCGA-26-1439-01A-01D-1353-08 TCGA-26-1439-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0d78dbfc-db49-42a2-a399-593c4b0839ff 07608301-2532-446d-acff-641e40d2e038 g.chr16:80718650G>A uc002ffs.2 - 2 506 c.401C>T c.(400-402)ACG>ATG p.T134M NM_152342 NP_689555 Q8N8U2 CDYL2_HUMAN chromodomain protein, Y-like 2 134 nucleus catalytic activity|protein binding central_nervous_system(1) 1 GTAAGACACCGTCTTGGTGGC 0.537 NLRP1 22861 broad.mit.edu 37 17 5418262 5418262 + Nonsense_Mutation SNP G A A TCGA-26-1439-01A-01D-1353-08 TCGA-26-1439-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0d78dbfc-db49-42a2-a399-593c4b0839ff 07608301-2532-446d-acff-641e40d2e038 g.chr17:5418262G>A uc002gci.2 - 17 4789 c.4234C>T c.(4234-4236)CAG>TAG p.Q1412* NLRP1_uc002gcg.1_Intron|NLRP1_uc002gck.2_Nonsense_Mutation_p.Q1368*|NLRP1_uc002gcj.2_Nonsense_Mutation_p.Q1382*|NLRP1_uc002gcl.2_Nonsense_Mutation_p.Q1338*|NLRP1_uc002gch.3_Nonsense_Mutation_p.Q1368* NM_033004 NP_127497 Q9C000 NALP1_HUMAN NLR family, pyrin domain containing 1 isoform 1 1412 CARD. defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide cytoplasm|NALP1 inflammasome complex|nucleus ATP binding|caspase activator activity|enzyme binding|protein domain specific binding lung(4)|breast(2)|ovary(1)|central_nervous_system(1)|skin(1) 9 Colorectal(1115;3.48e-05) CTCTCGTACTGCTCCTGGCTC 0.572 DNAH2 146754 broad.mit.edu 37 17 7708677 7708677 + Silent SNP C T T TCGA-26-1439-01A-01D-1353-08 TCGA-26-1439-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0d78dbfc-db49-42a2-a399-593c4b0839ff 07608301-2532-446d-acff-641e40d2e038 g.chr17:7708677C>T uc002giu.1 + 60 9422 c.9408C>T c.(9406-9408)AAC>AAT p.N3136N DNAH2_uc010cnm.1_Silent_p.N74N NM_020877 NP_065928 Q9P225 DYH2_HUMAN dynein heavy chain domain 3 3136 Stalk (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(6)|skin(6)|central_nervous_system(1) 13 all_cancers(10;4.66e-07)|Prostate(122;0.081) TTCGAGGCAACGAGCCCACAT 0.403 PRPSAP2 5636 broad.mit.edu 37 17 18833933 18833933 + Silent SNP C T T TCGA-26-1439-01A-01D-1353-08 TCGA-26-1439-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0d78dbfc-db49-42a2-a399-593c4b0839ff 07608301-2532-446d-acff-641e40d2e038 g.chr17:18833933C>T uc002gup.1 + 12 1243 c.1032C>T c.(1030-1032)ATC>ATT p.I344I PRPSAP2_uc002guo.1_Silent_p.I258I|PRPSAP2_uc010vyi.1_Silent_p.I292I|PRPSAP2_uc010vyj.1_Silent_p.I258I|PRPSAP2_uc010vyk.1_Silent_p.I283I|PRPSAP2_uc002guq.1_Silent_p.I131I NM_002767 NP_002758 O60256 KPRB_HUMAN phosphoribosyl pyrophosphate 344 nucleotide biosynthetic process enzyme inhibitor activity|magnesium ion binding|ribose phosphate diphosphokinase activity skin(1) 1 TCAGCATGATCCTTTCAGAGG 0.448 SLC6A4 6532 broad.mit.edu 37 17 28537542 28537542 + Silent SNP G A A TCGA-26-1439-01A-01D-1353-08 TCGA-26-1439-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0d78dbfc-db49-42a2-a399-593c4b0839ff 07608301-2532-446d-acff-641e40d2e038 g.chr17:28537542G>A uc002hey.3 - 11 1984 c.1440C>T c.(1438-1440)ACC>ACT p.T480T SLC6A4_uc010csg.2_RNA NM_001045 NP_001036 P31645 SC6A4_HUMAN solute carrier family 6 member 4 480 Helical; Name=9; (Potential). response to toxin|serotonin uptake|thalamus development cytosol|endomembrane system|endosome membrane|membrane raft actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity skin(3)|ovary(1) 4 Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832) CAAAAGTCAGGGTGACCAGGG 0.582 C17orf71 55181 broad.mit.edu 37 17 57288448 57288448 + Missense_Mutation SNP G A A TCGA-26-1439-01A-01D-1353-08 TCGA-26-1439-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0d78dbfc-db49-42a2-a399-593c4b0839ff 07608301-2532-446d-acff-641e40d2e038 g.chr17:57288448G>A uc002ixi.2 + 1 1078 c.1036G>A c.(1036-1038)GAC>AAC p.D346N NM_018149 NP_060619 Q8ND04 SMG8_HUMAN SMG8 protein 346 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity protein binding 0 all_neural(34;0.0837)|Medulloblastoma(34;0.0922) CCAGGAGGAGGACCCAGTAGG 0.527 ABCA5 23461 broad.mit.edu 37 17 67305454 67305454 + Missense_Mutation SNP G A A TCGA-26-1439-01A-01D-1353-08 TCGA-26-1439-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0d78dbfc-db49-42a2-a399-593c4b0839ff 07608301-2532-446d-acff-641e40d2e038 g.chr17:67305454G>A uc002jif.2 - 3 1636 c.418C>T c.(418-420)CGT>TGT p.R140C ABCA5_uc002jig.2_Missense_Mutation_p.R140C|ABCA5_uc002jih.2_Missense_Mutation_p.R140C|ABCA5_uc010dfe.2_Missense_Mutation_p.R140C NM_018672 NP_061142 Q8WWZ7 ABCA5_HUMAN ATP-binding cassette, sub-family A , member 5 140 cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane ATP binding|ATPase activity ovary(2)|central_nervous_system(1)|skin(1) 4 Breast(10;3.72e-11) GGAAAAAAACGAAGTTCATAG 0.328 RECQL5 9400 broad.mit.edu 37 17 73626864 73626864 + Missense_Mutation SNP C G G TCGA-26-1439-01A-01D-1353-08 TCGA-26-1439-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0d78dbfc-db49-42a2-a399-593c4b0839ff 07608301-2532-446d-acff-641e40d2e038 g.chr17:73626864C>G uc010dgl.2 - 12 1795 c.1639G>C c.(1639-1641)GTG>CTG p.V547L RECQL5_uc010dgk.2_Missense_Mutation_p.V520L|RECQL5_uc002jot.3_5'Flank|LOC643008_uc002jow.2_5'Flank NM_004259 NP_004250 O94762 RECQ5_HUMAN RecQ protein-like 5 isoform 1 547 DNA recombination|DNA repair cytoplasm|nuclear membrane|nucleolus|nucleoplasm ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding kidney(3) 3 all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09) all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112) CTTACCTTCACAGTCAGCCTG 0.657 Other_identified_genes_with_known_or_suspected_DNA_repair_function GALK1 2584 broad.mit.edu 37 17 73754163 73754163 + Missense_Mutation SNP C A A TCGA-26-1439-01A-01D-1353-08 TCGA-26-1439-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0d78dbfc-db49-42a2-a399-593c4b0839ff 07608301-2532-446d-acff-641e40d2e038 g.chr17:73754163C>A uc010wsi.1 - 8 1216 c.1153G>T c.(1153-1155)GAT>TAT p.D385Y GALK1_uc002jpk.2_Missense_Mutation_p.D385Y NM_000154 NP_000145 P51570 GALK1_HUMAN galactokinase 1 385 galactose catabolic process cytosol ATP binding|galactokinase activity|galactose binding 0 all_cancers(13;1.5e-07) all cancers(21;1.03e-06)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) TTGGCTCCATCGGCTGCTTGA 0.682 OR10H3 26532 broad.mit.edu 37 19 15852470 15852470 + Missense_Mutation SNP C T T TCGA-26-1439-01A-01D-1353-08 TCGA-26-1439-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0d78dbfc-db49-42a2-a399-593c4b0839ff 07608301-2532-446d-acff-641e40d2e038 g.chr19:15852470C>T uc010xoq.1 + 1 268 c.268C>T c.(268-270)CAT>TAT p.H90Y NM_013938 NP_039226 O60404 O10H3_HUMAN olfactory receptor, family 10, subfamily H, 90 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 GCTCTTCACCCATCGTTCCAT 0.502 CPAMD8 27151 broad.mit.edu 37 19 17017835 17017835 + Silent SNP G A A TCGA-26-1439-01A-01D-1353-08 TCGA-26-1439-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0d78dbfc-db49-42a2-a399-593c4b0839ff 07608301-2532-446d-acff-641e40d2e038 g.chr19:17017835G>A uc002nfb.2 - 30 4127 c.4095C>T c.(4093-4095)TAC>TAT p.Y1365Y NM_015692 NP_056507 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain 1318 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity ovary(4)|breast(4)|large_intestine(3)|pancreas(1)|skin(1) 13 GGGTCAGCGCGTAGGTAGTCA 0.662 Unknown 0 broad.mit.edu 37 19 23406220 23406220 + Missense_Mutation SNP T C C TCGA-26-1439-01A-01D-1353-08 TCGA-26-1439-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0d78dbfc-db49-42a2-a399-593c4b0839ff 07608301-2532-446d-acff-641e40d2e038 g.chr19:23406220T>C uc010xri.1 - 4 945 c.827A>G c.(826-828)CAT>CGT p.H276R SubName: Full=cDNA FLJ56866, moderately similar to Zinc finger protein 43; CTCTCCAGTATGAATTATCTT 0.358 WDR62 284403 broad.mit.edu 37 19 36583666 36583668 + In_Frame_Del DEL GCA - - TCGA-26-1439-01A-01D-1353-08 TCGA-26-1439-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0d78dbfc-db49-42a2-a399-593c4b0839ff 07608301-2532-446d-acff-641e40d2e038 g.chr19:36583666_36583668delGCA uc002odc.2 + 19 2377_2379 c.2286_2288delGCA c.(2284-2289)CGGCAG>CGG p.Q766del WDR62_uc002odd.2_In_Frame_Del_p.Q766del NM_173636 NP_775907 O43379 WDR62_HUMAN WD repeat domain 62 isoform 2 766 cerebral cortex development nucleus 0 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) TTGACCACCGGCAGCAGCAGCAG 0.567 PSG1 5669 broad.mit.edu 37 19 43373123 43373123 + Nonsense_Mutation SNP A C C TCGA-26-1439-01A-01D-1353-08 TCGA-26-1439-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0d78dbfc-db49-42a2-a399-593c4b0839ff 07608301-2532-446d-acff-641e40d2e038 g.chr19:43373123A>C uc002ovb.2 - 4 911 c.773T>G c.(772-774)TTA>TGA p.L258* PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Nonsense_Mutation_p.L258*|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG1_uc002oun.2_RNA|PSG1_uc002our.1_Nonsense_Mutation_p.L258*|PSG1_uc010eio.1_Nonsense_Mutation_p.L258*|PSG1_uc002oux.1_Nonsense_Mutation_p.L187*|PSG1_uc002ouy.1_Intron|PSG1_uc002ouz.1_Nonsense_Mutation_p.L258*|PSG1_uc002ova.1_Nonsense_Mutation_p.L165*|PSG1_uc002ovc.2_Nonsense_Mutation_p.L165*|PSG1_uc002ovd.1_Nonsense_Mutation_p.L258* NM_006905 NP_008836 P11464 PSG1_HUMAN pregnancy specific beta-1-glycoprotein 1 258 Ig-like C2-type 2. female pregnancy extracellular region ovary(2) 2 Prostate(69;0.00682) GGTGAAGTTTAAGACATCCTT 0.488 MFSD2B 388931 broad.mit.edu 37 2 24247038 24247038 + Missense_Mutation SNP G A A TCGA-26-1439-01A-01D-1353-08 TCGA-26-1439-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0d78dbfc-db49-42a2-a399-593c4b0839ff 07608301-2532-446d-acff-641e40d2e038 g.chr2:24247038G>A uc002reo.1 + 13 1401 c.1387G>A c.(1387-1389)GCC>ACC p.A463T NM_001080473 NP_001073942 A6NFX1 MFS2B_HUMAN major facilitator superfamily domain containing 463 Helical; (Potential). transport integral to membrane ovary(2) 2 CCTCATTGGCGCCGTGCCCAC 0.607 VAX2 25806 broad.mit.edu 37 2 71160172 71160172 + Silent SNP G A A rs144443163 byFrequency TCGA-26-1439-01A-01D-1353-08 TCGA-26-1439-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0d78dbfc-db49-42a2-a399-593c4b0839ff 07608301-2532-446d-acff-641e40d2e038 g.chr2:71160172G>A uc002shh.2 + 3 743 c.711G>A c.(709-711)GCG>GCA p.A237A ATP6V1B1_uc002shi.1_5'Flank|ATP6V1B1_uc002shj.2_5'Flank|ATP6V1B1_uc010fdv.2_5'Flank|ATP6V1B1_uc010fdw.2_5'Flank NM_012476 NP_036608 Q9UIW0 VAX2_HUMAN ventral anterior homeobox 2 237 ectoderm development|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 CGGCCTCAGCGTCCCCCCCAC 0.692 EXOC6B 23233 broad.mit.edu 37 2 72692422 72692422 + Missense_Mutation SNP T A A TCGA-26-1439-01A-01D-1353-08 TCGA-26-1439-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0d78dbfc-db49-42a2-a399-593c4b0839ff 07608301-2532-446d-acff-641e40d2e038 g.chr2:72692422T>A uc010fep.2 - 18 1985 c.1847A>T c.(1846-1848)CAG>CTG p.Q616L EXOC6B_uc002sij.2_Missense_Mutation_p.Q616L NM_015189 NP_056004 Q9Y2D4 EXC6B_HUMAN SEC15-like 2 616 protein transport|vesicle docking involved in exocytosis exocyst central_nervous_system(2) 2 GTCAATCTTCTGGTTTAAGTT 0.393 SPTLC3 55304 broad.mit.edu 37 20 13052931 13052931 + Missense_Mutation SNP G C C TCGA-26-1439-01A-01D-1353-08 TCGA-26-1439-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0d78dbfc-db49-42a2-a399-593c4b0839ff 07608301-2532-446d-acff-641e40d2e038 g.chr20:13052931G>C uc002wod.1 + 3 620 c.331G>C c.(331-333)GAA>CAA p.E111Q NM_018327 NP_060797 Q9NUV7 SPTC3_HUMAN serine palmitoyltransferase, long chain base 111 sphingoid biosynthetic process integral to membrane|serine C-palmitoyltransferase complex pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups 0 Pyridoxal Phosphate(DB00114) TCAAGACTTTGAAAATTTTTA 0.428 KRTAP10-11 386678 broad.mit.edu 37 21 46066487 46066487 + Missense_Mutation SNP G A A TCGA-26-1439-01A-01D-1353-08 TCGA-26-1439-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0d78dbfc-db49-42a2-a399-593c4b0839ff 07608301-2532-446d-acff-641e40d2e038 g.chr21:46066487G>A uc002zfr.3 + 1 157 c.112G>A c.(112-114)GCC>ACC p.A38T C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_198692 NP_941965 P60412 KR10B_HUMAN keratin associated protein 10-11 38 2.|25 X 5 AA repeats of C-C-X(3). keratin filament ovary(1) 1 CAGCTGCTGCGCCCCGGCCCC 0.697 CECR6 27439 broad.mit.edu 37 22 17600851 17600851 + Silent SNP C T T TCGA-26-1439-01A-01D-1353-08 TCGA-26-1439-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0d78dbfc-db49-42a2-a399-593c4b0839ff 07608301-2532-446d-acff-641e40d2e038 g.chr22:17600851C>T uc002zmb.2 - 1 1363 c.1167G>A c.(1165-1167)CGG>CGA p.R389R CECR6_uc002zma.2_Silent_p.R34R|uc002zmc.2_5'Flank NM_031890 NP_114096 Q9BXQ6 CECR6_HUMAN cat eye syndrome chromosome region, candidate 6 389 0 all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132) Colorectal(9;0.221) CCGCGCGGTGCCGCTGGGGCT 0.736 GNB1L 54584 broad.mit.edu 37 22 19794193 19794193 + Missense_Mutation SNP G C C TCGA-26-1439-01A-01D-1353-08 TCGA-26-1439-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0d78dbfc-db49-42a2-a399-593c4b0839ff 07608301-2532-446d-acff-641e40d2e038 g.chr22:19794193G>C uc002zqe.1 - 5 899 c.505C>G c.(505-507)CGG>GGG p.R169G GNB1L_uc002zqd.1_Missense_Mutation_p.R25G|GNB1L_uc002zqf.1_Missense_Mutation_p.R169G NM_053004 NP_443730 Q9BYB4 GNB1L_HUMAN guanine nucleotide binding protein 169 WD 3. G-protein coupled receptor protein signaling pathway|intracellular signal transduction internal side of plasma membrane|intracellular breast(1) 1 Colorectal(54;0.0993) TGCCACAGCCGCAGGCACATG 0.607 CSF2RB 1439 broad.mit.edu 37 22 37325775 37325775 + Missense_Mutation SNP G A A rs149714683 TCGA-26-1439-01A-01D-1353-08 TCGA-26-1439-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0d78dbfc-db49-42a2-a399-593c4b0839ff 07608301-2532-446d-acff-641e40d2e038 g.chr22:37325775G>A uc003aqa.3 + 6 861 c.644G>A c.(643-645)CGC>CAC p.R215H CSF2RB_uc003aqc.3_Missense_Mutation_p.R215H NM_000395 NP_000386 P32927 IL3RB_HUMAN colony stimulating factor 2 receptor, beta 215 Fibronectin type-III 1.|Extracellular (Potential). respiratory gaseous exchange granulocyte macrophage colony-stimulating factor receptor complex cytokine receptor activity skin(2)|pancreas(1) 3 Sargramostim(DB00020) GTACGGACCCGCCTGGCCCCA 0.647 SSTR3 6753 broad.mit.edu 37 22 37603101 37603101 + Missense_Mutation SNP G A A TCGA-26-1439-01A-01D-1353-08 TCGA-26-1439-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0d78dbfc-db49-42a2-a399-593c4b0839ff 07608301-2532-446d-acff-641e40d2e038 g.chr22:37603101G>A uc003ara.2 - 2 804 c.742C>T c.(742-744)CGG>TGG p.R248W SSTR3_uc003arb.2_Missense_Mutation_p.R248W NM_001051 NP_001042 P32745 SSR3_HUMAN somatostatin receptor 3 248 Cytoplasmic (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation integral to plasma membrane|nonmotile primary cilium somatostatin receptor activity lung(1) 1 GAGCGCCGCCGCCGCTGGCAC 0.667 SUSD5 26032 broad.mit.edu 37 3 33194868 33194868 + Missense_Mutation SNP T C C TCGA-26-1439-01A-01D-1353-08 TCGA-26-1439-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0d78dbfc-db49-42a2-a399-593c4b0839ff 07608301-2532-446d-acff-641e40d2e038 g.chr3:33194868T>C uc003cfo.1 - 5 1674 c.1256A>G c.(1255-1257)AAG>AGG p.K419R NM_015551 NP_056366 O60279 SUSD5_HUMAN sushi domain containing 5 precursor 419 Extracellular (Potential). cell adhesion integral to membrane hyaluronic acid binding ovary(1)|central_nervous_system(1) 2 ACTCTTGGGCTTCTTAACTTC 0.517 Unknown 0 broad.mit.edu 37 3 129140636 129140636 + Silent SNP C T T TCGA-26-1439-01A-01D-1353-08 TCGA-26-1439-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0d78dbfc-db49-42a2-a399-593c4b0839ff 07608301-2532-446d-acff-641e40d2e038 g.chr3:129140636C>T uc003emg.2 - 2 223 c.60G>A c.(58-60)CCG>CCA p.P20P NM_207307 NP_997190 hypothetical protein LOC90288 GAGTCTTAGACGGGCAGAGTC 0.512 SGEF 26084 broad.mit.edu 37 3 153867229 153867229 + Missense_Mutation SNP C G G TCGA-26-1439-01A-01D-1353-08 TCGA-26-1439-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0d78dbfc-db49-42a2-a399-593c4b0839ff 07608301-2532-446d-acff-641e40d2e038 g.chr3:153867229C>G uc011bog.1 + 5 1532 c.1321C>G c.(1321-1323)CAA>GAA p.Q441E SGEF_uc011boh.1_Missense_Mutation_p.Q441E NM_015595 NP_056410 Q96DR7 ARHGQ_HUMAN Src homology 3 domain-containing guanine 441 DH. regulation of Rho protein signal transduction intracellular|ruffle Rho guanyl-nucleotide exchange factor activity large_intestine(1) 1 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) AAGAAAGAGACAAGAGGTATG 0.393 UGDH 7358 broad.mit.edu 37 4 39515752 39515753 + Frame_Shift_Ins INS - A A TCGA-26-1439-01A-01D-1353-08 TCGA-26-1439-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0d78dbfc-db49-42a2-a399-593c4b0839ff 07608301-2532-446d-acff-641e40d2e038 g.chr4:39515752_39515753insA uc003guk.1 - 3 530_531 c.214_215insT c.(214-216)TCTfs p.S72fs UGDH_uc011byp.1_5'UTR|UGDH_uc003gul.1_Frame_Shift_Ins_p.S72fs NM_003359 NP_003350 O60701 UGDH_HUMAN UDP-glucose dehydrogenase 72 glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process cytosol electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1) 4 NADH(DB00157) AATATTGGTAGAAAAAAAAAGA 0.297 DCHS2 54798 broad.mit.edu 37 4 155219800 155219800 + Missense_Mutation SNP C G G TCGA-26-1439-01A-01D-1353-08 TCGA-26-1439-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0d78dbfc-db49-42a2-a399-593c4b0839ff 07608301-2532-446d-acff-641e40d2e038 g.chr4:155219800C>G uc003inw.2 - 18 4301 c.4301G>C c.(4300-4302)CGT>CCT p.R1434P NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN dachsous 2 isoform 1 1434 Cadherin 12. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|pancreas(1) 4 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) GTCCAAAGCACGAGTGGTTGA 0.393 DCHS2 54798 broad.mit.edu 37 4 155242236 155242236 + Silent SNP A G G TCGA-26-1439-01A-01D-1353-08 TCGA-26-1439-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0d78dbfc-db49-42a2-a399-593c4b0839ff 07608301-2532-446d-acff-641e40d2e038 g.chr4:155242236A>G uc003inw.2 - 14 2950 c.2950T>C c.(2950-2952)TTA>CTA p.L984L NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN dachsous 2 isoform 1 984 Cadherin 8. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|pancreas(1) 4 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) CTAAAATGTAACTTTCCATTA 0.328 HEATR7B2 133558 broad.mit.edu 37 5 41058241 41058241 + Missense_Mutation SNP C T T TCGA-26-1439-01A-01D-1353-08 TCGA-26-1439-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0d78dbfc-db49-42a2-a399-593c4b0839ff 07608301-2532-446d-acff-641e40d2e038 g.chr5:41058241C>T uc003jmj.3 - 7 1170 c.680G>A c.(679-681)CGT>CAT p.R227H HEATR7B2_uc003jmi.3_Translation_Start_Site NM_173489 NP_775760 Q7Z745 HTRB2_HUMAN HEAT repeat family member 7B2 227 binding ovary(6)|central_nervous_system(2) 8 GGCGTATCCACGGAAGTCTTC 0.517 MAST4 375449 broad.mit.edu 37 5 66460510 66460510 + Missense_Mutation SNP G A A TCGA-26-1439-01A-01D-1353-08 TCGA-26-1439-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0d78dbfc-db49-42a2-a399-593c4b0839ff 07608301-2532-446d-acff-641e40d2e038 g.chr5:66460510G>A uc003jut.1 + 28 5004 c.4936G>A c.(4936-4938)GTG>ATG p.V1646M MAST4_uc003juw.2_Missense_Mutation_p.V1574M|MAST4_uc003jux.2_5'Flank NM_015183 NP_055998 O15021 MAST4_HUMAN microtubule associated serine/threonine kinase 1838 cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity lung(6)|ovary(2)|kidney(2)|breast(2)|central_nervous_system(1) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) AAGTGGTGACGTGAGGGCCTC 0.562 TRPC7 57113 broad.mit.edu 37 5 135692416 135692416 + Silent SNP G A A TCGA-26-1439-01A-01D-1353-08 TCGA-26-1439-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0d78dbfc-db49-42a2-a399-593c4b0839ff 07608301-2532-446d-acff-641e40d2e038 g.chr5:135692416G>A uc003lbn.1 - 1 660 c.657C>T c.(655-657)AAC>AAT p.N219N TRPC7_uc010jef.1_Silent_p.N211N|TRPC7_uc010jeg.1_RNA|TRPC7_uc010jeh.1_Silent_p.N211N|TRPC7_uc010jei.1_Silent_p.N211N|TRPC7_uc010jej.1_Translation_Start_Site NM_020389 NP_065122 Q9HCX4 TRPC7_HUMAN transient receptor potential cation channel, 220 Cytoplasmic (Potential). axon guidance|platelet activation integral to membrane|plasma membrane calcium channel activity|protein binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) CTTTGTAGGCGTTCATGCGCG 0.607 LRRTM2 26045 broad.mit.edu 37 5 138209080 138209081 + Frame_Shift_Ins INS - T T TCGA-26-1439-01A-01D-1353-08 TCGA-26-1439-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0d78dbfc-db49-42a2-a399-593c4b0839ff 07608301-2532-446d-acff-641e40d2e038 g.chr5:138209080_138209081insT uc011cyz.1 - 2 1626_1627 c.1169_1170insA c.(1168-1170)TACfs p.Y390fs CTNNA1_uc003ldh.2_Intron|CTNNA1_uc011cyx.1_Intron|CTNNA1_uc011cyy.1_Intron|CTNNA1_uc003ldi.2_Intron|CTNNA1_uc003ldj.2_Intron|LRRTM2_uc010jez.2_Intron|LRRTM2_uc011cza.1_Frame_Shift_Ins_p.Y256fs|CTNNA1_uc003ldl.2_5'Flank NM_015564 NP_056379 O43300 LRRT2_HUMAN leucine rich repeat transmembrane neuronal 2 390 Extracellular (Potential). cell junction|integral to membrane|postsynaptic membrane 0 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) CTCCCACATGGTAACTTGATGA 0.431 PCDHA9 9752 broad.mit.edu 37 5 140229393 140229393 + Missense_Mutation SNP C T T TCGA-26-1439-01A-01D-1353-08 TCGA-26-1439-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0d78dbfc-db49-42a2-a399-593c4b0839ff 07608301-2532-446d-acff-641e40d2e038 g.chr5:140229393C>T uc003lhu.2 + 1 2037 c.1313C>T c.(1312-1314)ACG>ATG p.T438M PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Missense_Mutation_p.T438M NM_031857 NP_114063 Q9Y5H5 PCDA9_HUMAN protocadherin alpha 9 isoform 1 precursor 438 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding large_intestine(2)|ovary(2)|skin(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGTGGGCCACGGCCAGGGTG 0.657 RUNX2 860 broad.mit.edu 37 6 45390685 45390685 + Silent SNP G A A TCGA-26-1439-01A-01D-1353-08 TCGA-26-1439-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0d78dbfc-db49-42a2-a399-593c4b0839ff 07608301-2532-446d-acff-641e40d2e038 g.chr6:45390685G>A uc011dvx.1 + 3 624 c.414G>A c.(412-414)GTG>GTA p.V138V RUNX2_uc011dvy.1_Silent_p.V138V|RUNX2_uc003oxt.2_Silent_p.V124V NM_001024630 NP_001019801 Q13950 RUNX2_HUMAN runt-related transcription factor 2 isoform a 138 Runt. negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(2)|skin(1) 3 CCCTGCCCGTGGCCTTCAAGG 0.577 DBNL 28988 broad.mit.edu 37 7 44100419 44100419 + Silent SNP G T T TCGA-26-1439-01A-01D-1353-08 TCGA-26-1439-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0d78dbfc-db49-42a2-a399-593c4b0839ff 07608301-2532-446d-acff-641e40d2e038 g.chr7:44100419G>T uc003tjp.3 + 13 1295 c.1197G>T c.(1195-1197)ACG>ACT p.T399T DBNL_uc003tjo.3_Silent_p.T400T|DBNL_uc003tjr.3_Silent_p.T272T|DBNL_uc003tjq.3_Silent_p.T408T|DBNL_uc011kbm.1_Silent_p.T375T|DBNL_uc011kbn.1_Silent_p.T296T|DBNL_uc011kbo.1_Silent_p.T300T|DBNL_uc011kbp.1_Silent_p.T351T|DBNL_uc011kbq.1_Silent_p.T324T|DBNL_uc011kbr.1_Silent_p.T348T|DBNL_uc011kbs.1_Silent_p.T304T NM_001014436 NP_001014436 Q9UJU6 DBNL_HUMAN drebrin-like isoform b 399 SH3. activation of JUN kinase activity|cellular component disassembly involved in apoptosis|endocytosis|Rac protein signal transduction cell cortex|cytoskeleton|cytosol|lamellipodium actin binding|enzyme activator activity|identical protein binding skin(1) 1 ACCTCATCACGGGCATCGAGG 0.587 POM121L12 285877 broad.mit.edu 37 7 53103950 53103950 + Silent SNP T C C TCGA-26-1439-01A-01D-1353-08 TCGA-26-1439-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0d78dbfc-db49-42a2-a399-593c4b0839ff 07608301-2532-446d-acff-641e40d2e038 g.chr7:53103950T>C uc003tpz.2 + 1 602 c.586T>C c.(586-588)TTG>CTG p.L196L NM_182595 NP_872401 Q8N7R1 P1L12_HUMAN POM121 membrane glycoprotein-like 12 196 0 CGACGGGCCGTTGTGGTTCGA 0.607 EGFR 1956 broad.mit.edu 37 7 55233043 55233043 + Missense_Mutation SNP G T T rs139236063 TCGA-26-1439-01A-01D-1353-08 TCGA-26-1439-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0d78dbfc-db49-42a2-a399-593c4b0839ff 07608301-2532-446d-acff-641e40d2e038 g.chr7:55233043G>T uc003tqk.2 + 15 2039 c.1793G>T c.(1792-1794)GGA>GTA p.G598V EGFR_uc003tqi.2_Missense_Mutation_p.G598V|EGFR_uc003tqj.2_Missense_Mutation_p.G598V|EGFR_uc010kzg.1_Missense_Mutation_p.G553V|EGFR_uc011kco.1_Missense_Mutation_p.G545V|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_RNA|EGFR_uc003tqn.2_RNA NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 598 Approximate.|Extracellular (Potential). 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 p.G598V(16) lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 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) TGCCCGGCAGGAGTCATGGGA 0.567 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) ADAM22 53616 broad.mit.edu 37 7 87760639 87760639 + Missense_Mutation SNP C T T TCGA-26-1439-01A-01D-1353-08 TCGA-26-1439-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0d78dbfc-db49-42a2-a399-593c4b0839ff 07608301-2532-446d-acff-641e40d2e038 g.chr7:87760639C>T uc003ujn.2 + 11 960 c.881C>T c.(880-882)GCG>GTG p.A294V ADAM22_uc003ujj.1_Missense_Mutation_p.A294V|ADAM22_uc003ujk.1_Missense_Mutation_p.A294V|ADAM22_uc003ujl.1_Missense_Mutation_p.A294V|ADAM22_uc003ujm.2_Missense_Mutation_p.A294V|ADAM22_uc003ujo.2_Missense_Mutation_p.A294V|ADAM22_uc003ujp.1_Missense_Mutation_p.A346V NM_021723 NP_068369 Q9P0K1 ADA22_HUMAN ADAM metallopeptidase domain 22 isoform 1 294 Peptidase M12B.|Extracellular (Potential). cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis integral to membrane integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding ovary(4)|skin(2)|lung(1)|kidney(1) 8 Esophageal squamous(14;0.00202) STAD - Stomach adenocarcinoma(171;0.215) GAAACCTGGGCGACTGACAAC 0.358 EPHB4 2050 broad.mit.edu 37 7 100404060 100404060 + Nonsense_Mutation SNP C T T TCGA-26-1439-01A-01D-1353-08 TCGA-26-1439-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0d78dbfc-db49-42a2-a399-593c4b0839ff 07608301-2532-446d-acff-641e40d2e038 g.chr7:100404060C>T uc003uwn.1 - 14 2957 c.2466G>A c.(2464-2466)TGG>TGA p.W822* EPHB4_uc003uwm.1_Nonsense_Mutation_p.W729*|EPHB4_uc010lhj.1_Nonsense_Mutation_p.W822* NM_004444 NP_004435 P54760 EPHB4_HUMAN EPH receptor B4 precursor 822 Cytoplasmic (Potential).|Protein kinase. cell proliferation|organ morphogenesis|regulation of angiogenesis cell surface|integral to plasma membrane ATP binding|ephrin receptor activity lung(4)|stomach(3)|skin(3)|central_nervous_system(2)|ovary(2)|breast(1) 15 Lung NSC(181;0.041)|all_lung(186;0.0581) TGCTCATGTCCCAGTACGGCC 0.562 MUC17 140453 broad.mit.edu 37 7 100684307 100684308 + In_Frame_Ins INS - CTC CTC TCGA-26-1439-01A-01D-1353-08 TCGA-26-1439-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0d78dbfc-db49-42a2-a399-593c4b0839ff 07608301-2532-446d-acff-641e40d2e038 g.chr7:100684307_100684308insCTC uc003uxp.1 + 3 9663_9664 c.9610_9611insCTC c.(9610-9612)TCT>TCTCCT p.3204_3205insP MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 3204_3205 Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|52. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) AGCCACTTCATCTACAACTGCT 0.500 TAF2 6873 broad.mit.edu 37 8 120774701 120774701 + Missense_Mutation SNP T G G TCGA-26-1439-01A-01D-1353-08 TCGA-26-1439-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0d78dbfc-db49-42a2-a399-593c4b0839ff 07608301-2532-446d-acff-641e40d2e038 g.chr8:120774701T>G uc003you.2 - 19 2782 c.2512A>C c.(2512-2514)AAT>CAT p.N838H NM_003184 NP_003175 Q6P1X5 TAF2_HUMAN TBP-associated factor 2 838 G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor TFIID complex|transcription factor TFTC complex metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding large_intestine(2)|ovary(2)|kidney(1)|skin(1) 6 Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) TTTTCCATATTCAAAAATCTG 0.313 FLJ43860 389690 broad.mit.edu 37 8 142505515 142505515 + Missense_Mutation SNP T C C TCGA-26-1439-01A-01D-1353-08 TCGA-26-1439-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0d78dbfc-db49-42a2-a399-593c4b0839ff 07608301-2532-446d-acff-641e40d2e038 g.chr8:142505515T>C uc003ywi.2 - 3 412 c.331A>G c.(331-333)AAG>GAG p.K111E FLJ43860_uc011ljs.1_5'Flank|FLJ43860_uc010meu.1_5'Flank NM_207414 NP_997297 Q6ZUA9 Q6ZUA9_HUMAN hypothetical protein LOC389690 111 binding 0 all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0493) TTCTTGATCTTCTTGATGATG 0.527 PLEC 5339 broad.mit.edu 37 8 144993831 144993831 + Silent SNP C T T TCGA-26-1439-01A-01D-1353-08 TCGA-26-1439-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0d78dbfc-db49-42a2-a399-593c4b0839ff 07608301-2532-446d-acff-641e40d2e038 g.chr8:144993831C>T uc003zaf.1 - 32 10739 c.10569G>A c.(10567-10569)GCG>GCA p.A3523A PLEC_uc003zab.1_Silent_p.A3386A|PLEC_uc003zac.1_Silent_p.A3390A|PLEC_uc003zad.2_Silent_p.A3386A|PLEC_uc003zae.1_Silent_p.A3354A|PLEC_uc003zag.1_Silent_p.A3364A|PLEC_uc003zah.2_Silent_p.A3372A|PLEC_uc003zaj.2_Silent_p.A3413A NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 3523 Plectin 13.|Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 CCAGCAGGAGCGCAGCCGTTG 0.692 FBXL6 26233 broad.mit.edu 37 8 145581939 145581939 + Missense_Mutation SNP G A A TCGA-26-1439-01A-01D-1353-08 TCGA-26-1439-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0d78dbfc-db49-42a2-a399-593c4b0839ff 07608301-2532-446d-acff-641e40d2e038 g.chr8:145581939G>A uc003zcb.2 - 1 194 c.169C>T c.(169-171)CCC>TCC p.P57S C8ORFK29_uc003zby.3_5'Flank|FBXL6_uc003zbz.2_5'Flank|FBXL6_uc003zca.2_Missense_Mutation_p.P57S|FBXL6_uc010mfx.2_5'UTR|GPR172A_uc003zcc.1_5'Flank|GPR172A_uc003zcd.1_5'Flank|GPR172A_uc003zce.1_5'Flank|GPR172A_uc010mfy.1_5'Flank|GPR172A_uc003zcf.1_5'Flank|GPR172A_uc011llc.1_5'Flank NM_012162 NP_036294 Q8N531 FBXL6_HUMAN F-box and leucine-rich repeat protein 6 isoform 57 F-box. proteolysis ubiquitin-protein ligase activity ovary(1)|lung(1) 2 all_cancers(97;6.64e-12)|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;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055) tgtgcgcggggccgggcgggg 0.413 DMRT3 58524 broad.mit.edu 37 9 977245 977245 + Missense_Mutation SNP A G G TCGA-26-1439-01A-01D-1353-08 TCGA-26-1439-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0d78dbfc-db49-42a2-a399-593c4b0839ff 07608301-2532-446d-acff-641e40d2e038 g.chr9:977245A>G uc003zgw.1 + 1 282 c.244A>G c.(244-246)AGC>GGC p.S82G NM_021240 NP_067063 Q9NQL9 DMRT3_HUMAN doublesex and mab-3 related transcription factor 82 cell differentiation|multicellular organismal development|sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity ovary(2)|central_nervous_system(1) 3 all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08) Lung(218;0.0196) GGCCAACGAGAGCTTGGAGAG 0.483 CACNA1B 774 broad.mit.edu 37 9 141014620 141014620 + Missense_Mutation SNP G A A TCGA-26-1439-01A-01D-1353-08 TCGA-26-1439-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0d78dbfc-db49-42a2-a399-593c4b0839ff 07608301-2532-446d-acff-641e40d2e038 g.chr9:141014620G>A uc004cog.2 + 44 6179 c.6034G>A c.(6034-6036)GTC>ATC p.V2012I CACNA1B_uc004coi.2_Missense_Mutation_p.V1224I NM_000718 NP_000709 Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, 2012 Cytoplasmic (Potential). membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity breast(3)|large_intestine(2)|ovary(1) 6 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) CCCACAGCCCGTCACAGATGC 0.672 EFNB1 1947 broad.mit.edu 37 X 68058542 68058542 + Missense_Mutation SNP C G G TCGA-26-1439-01A-01D-1353-08 TCGA-26-1439-10A-01D-1353-08 Somatic Phase_I Capture Illumina GAIIx 0d78dbfc-db49-42a2-a399-593c4b0839ff 07608301-2532-446d-acff-641e40d2e038 g.chrX:68058542C>G uc004dxd.3 + 2 991 c.211C>G c.(211-213)CGG>GGG p.R71G EFNB1_uc004dxe.2_Missense_Mutation_p.R71G NM_004429 NP_004420 P98172 EFNB1_HUMAN ephrin-B1 precursor 71 Extracellular (Potential). cell adhesion|cell-cell signaling integral to plasma membrane|soluble fraction|synapse ephrin receptor binding 0 AGAAGCAGGGCGGCCCTATGA 0.572