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 VPS13D 55187 broad.mit.edu 37 1 12418559 12418559 + Missense_Mutation SNP C C T TCGA-02-0047-01A-01D-1490-08 TCGA-02-0047-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce03026e-b756-43a2-972d-b3a4dcda5491 12cccbae-0ffc-43ee-8aa5-7ec47611b497 g.chr1:12418559C>T uc001atv.3 + 49 10184 c.10043C>T c.(10042-10044)cCg>cTg p.P3348L VPS13D_uc001atw.3_Missense_Mutation_p.P3323L|VPS13D_uc001atx.3_Missense_Mutation_p.P2535L NM_015378 NP_056193 Q5THJ4 VP13D_HUMAN Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA. 3347 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) GAAGGCATGCCGGGCTGGTGT 0.512 RPL11 6135 broad.mit.edu 37 1 24018320 24018320 + Splice_Site SNP G G C TCGA-02-0047-01A-01D-1490-08 TCGA-02-0047-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce03026e-b756-43a2-972d-b3a4dcda5491 12cccbae-0ffc-43ee-8aa5-7ec47611b497 g.chr1:24018320G>C uc001bhk.3 + 1 51 c.6_splice c.e1+1 p.A2_splice RPL11_uc001bhl.3_Splice_Site_p.A2_splice NM_000975 NP_000966 P62913 RL11_HUMAN Homo sapiens ribosomal protein L11 (RPL11), transcript variant 1, mRNA. 2 endocrine pancreas development|protein localization to nucleus|protein targeting|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleolus protein binding|rRNA binding|structural constituent of ribosome central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2) 6 Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185) CATCATGGCGGTGAGTAGCTG 0.607 OREG0013231 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) LEPR 3953 broad.mit.edu 37 1 66083830 66083830 + Splice_Site SNP G G T TCGA-02-0047-01A-01D-1490-08 TCGA-02-0047-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce03026e-b756-43a2-972d-b3a4dcda5491 12cccbae-0ffc-43ee-8aa5-7ec47611b497 g.chr1:66083830G>T uc001dci.3 + 16 2784 c.2395_splice c.e16+1 p.D799_splice LEPR_uc001dcg.3_Splice_Site_p.D799_splice|LEPR_uc001dch.3_Splice_Site_p.D799_splice|LEPR_uc009waq.3_Intron|LEPR_uc021ool.1_Splice_Site_p.D799_splice|LEPR_uc001dcj.3_Splice_Site_p.D799_splice|LEPR_uc001dck.3_Splice_Site_p.D799_splice NM_002303 NP_002294 P48357 LEPR_HUMAN Homo sapiens leptin receptor (LEPR), transcript variant 1, mRNA. 799 Fibronectin type-III 4. energy reserve metabolic process|multicellular organismal development extracellular region|integral to membrane|plasma membrane cytokine receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2) 36 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) TATATCCATGGTAAGTTTACT 0.259 RPL5 6125 broad.mit.edu 37 1 93299218 93299218 + Splice_Site SNP G G C TCGA-02-0047-01A-01D-1490-08 TCGA-02-0047-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce03026e-b756-43a2-972d-b3a4dcda5491 12cccbae-0ffc-43ee-8aa5-7ec47611b497 g.chr1:93299218G>C uc001doz.3 + 3 267 c.189_splice c.e3+1 p.Q63_splice FAM69A_uc001dpc.3_Intron|RPL5_uc001dpa.3_Splice_Site|RPL5_uc001dpb.3_Splice_Site_p.Q13_splice|RPL5_uc001dpd.3_5'Flank NM_000969 NP_000960 P46777 RL5_HUMAN Homo sapiens ribosomal protein L5 (RPL5), mRNA. 63 endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleolus 5S rRNA binding|protein binding|structural constituent of ribosome endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 9 all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203) GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927) CATTTGTCAGGTAAGTTGTAT 0.393 CD101 9398 broad.mit.edu 37 1 117552817 117552817 + Missense_Mutation SNP A A T TCGA-02-0047-01A-01D-1490-08 TCGA-02-0047-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce03026e-b756-43a2-972d-b3a4dcda5491 12cccbae-0ffc-43ee-8aa5-7ec47611b497 g.chr1:117552817A>T uc010oxb.1 + 1 447 c.389A>T c.(388-390)tAc>tTc p.Y130F CD101_uc009whd.3_Missense_Mutation_p.Y130F|CD101_uc010oxc.1_Missense_Mutation_p.Y130F|CD101_uc010oxd.1_Missense_Mutation_p.Y130F NM_004258 NP_004249 Q93033 IGSF2_HUMAN Homo sapiens CD101 molecule (CD101), transcript variant 1, mRNA. 130 Ig-like C2-type 1. cell surface receptor linked signaling pathway integral to membrane|plasma membrane hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 GATGAGAAATACTATGGAAGT 0.463 NBPF10 400818 broad.mit.edu 37 1 144816536 144816536 + Silent SNP T T G TCGA-02-0047-01A-01D-1490-08 TCGA-02-0047-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce03026e-b756-43a2-972d-b3a4dcda5491 12cccbae-0ffc-43ee-8aa5-7ec47611b497 g.chr1:144816536T>G uc009wig.1 + 11 1631 c.1437T>G c.(1435-1437)acT>acG p.T479T NBPF10_uc010oxo.1_Silent_p.T481T|NBPF10_uc010oxn.1_Intron|NBPF10_uc021oth.1_Intron|NBPF10_uc021otj.1_Intron|NBPF10_uc021oto.1_Intron|NBPF10_uc021otr.1_Intron|NBPF10_uc021ots.1_Intron|NBPF10_uc021otv.1_Intron|NBPF10_uc001ekk.1_Intron|NBPF10_uc010oyd.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc001eli.3_Non-coding_Transcript|NBPF10_uc009wii.1_Silent_p.T210T|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|NBPF10_uc021ouf.1_Silent_p.T141T NM_001037675 NP_001032764 A6NDV3 A6NDV3_HUMAN Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA. 481 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) GTGCCATCACTTATTCAAATA 0.463 NBPF10 100132406 broad.mit.edu 37 1 145360624 145360624 + Silent SNP G G A TCGA-02-0047-01A-01D-1490-08 TCGA-02-0047-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce03026e-b756-43a2-972d-b3a4dcda5491 12cccbae-0ffc-43ee-8aa5-7ec47611b497 g.chr1:145360624G>A uc021oul.1 + 73 9284 c.9249G>A c.(9247-9249)tcG>tcA p.S3083S NBPF10_uc010oye.2_Intron|NBPF10_uc010oyi.2_Intron|NBPF10_uc010oyj.2_Intron|NBPF10_uc010oyl.2_Intron|NBPF10_uc001enc.2_Intron|NBPF10_uc021ouq.1_Non-coding_Transcript NM_001039703 NP_001034792 A6NDV3 A6NDV3_HUMAN Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA. 3083 p.S3083S(4) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) GATGTTATTCGACTCCTTCAG 0.478 PTPRC 5788 broad.mit.edu 37 1 198721383 198721383 + Silent SNP C C T TCGA-02-0047-01A-01D-1490-08 TCGA-02-0047-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce03026e-b756-43a2-972d-b3a4dcda5491 12cccbae-0ffc-43ee-8aa5-7ec47611b497 g.chr1:198721383C>T uc001gur.1 + 29 3387 c.3207C>T c.(3205-3207)atC>atT p.I1069I PTPRC_uc001gut.1_Silent_p.I908I NM_002838 NP_002829 P08575 PTPRC_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA. 1069 Tyrosine-protein phosphatase 2. axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 111 TCTAGGAAATCTGTGCTCAGT 0.388 NAV1 89796 broad.mit.edu 37 1 201750337 201750337 + Silent SNP C C T TCGA-02-0047-01A-01D-1490-08 TCGA-02-0047-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce03026e-b756-43a2-972d-b3a4dcda5491 12cccbae-0ffc-43ee-8aa5-7ec47611b497 g.chr1:201750337C>T uc021phi.1 + 4 1910 c.1563C>T c.(1561-1563)atC>atT p.I521I NAV1_uc001gwu.3_Silent_p.I521I|NAV1_uc001gwv.1_Silent_p.I29I|NAV1_uc001gww.2_Silent_p.I130I|NAV1_uc001gwx.3_Silent_p.I130I|NAV1_uc001gwy.1_5'Flank NM_020443 NP_065176 Q8NEY1 NAV1_HUMAN Homo sapiens neuron navigator 1 (NAV1), transcript variant 1, mRNA. 521 cell differentiation|nervous system development cytoplasm|microtubule nucleoside-triphosphatase activity|nucleotide binding breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2) 70 AAAAGCCCATCAGCCTGGGCC 0.577 PCNXL2 80003 broad.mit.edu 37 1 233395011 233395011 + Silent SNP C C T TCGA-02-0047-01A-01D-1490-08 TCGA-02-0047-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce03026e-b756-43a2-972d-b3a4dcda5491 12cccbae-0ffc-43ee-8aa5-7ec47611b497 g.chr1:233395011C>T uc001hvl.2 - 4 832 c.597G>A c.(595-597)gcG>gcA p.A199A PCNXL2_uc009xfu.3_Non-coding_Transcript|PCNXL2_uc009xfv.1_Non-coding_Transcript NM_014801 NP_055616 A6NKB5 PCX2_HUMAN Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA. 199 integral to membrane p.A199G(1) 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) GTGCTTGAGACGCAGGTAAGC 0.448 RYR2 6262 broad.mit.edu 37 1 237794836 237794836 + Missense_Mutation SNP T T C TCGA-02-0047-01A-01D-1490-08 TCGA-02-0047-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce03026e-b756-43a2-972d-b3a4dcda5491 12cccbae-0ffc-43ee-8aa5-7ec47611b497 g.chr1:237794836T>C uc001hyl.1 + 41 6670 c.6550T>C c.(6550-6552)Tcc>Ccc p.S2184P NM_001035 NP_001026 Q92736 RYR2_HUMAN Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA. 2184 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) AGGTGGAGAGTCCAAGGTAAC 0.393 GPR158 57512 broad.mit.edu 37 10 25886887 25886887 + Missense_Mutation SNP G G T TCGA-02-0047-01A-01D-1490-08 TCGA-02-0047-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce03026e-b756-43a2-972d-b3a4dcda5491 12cccbae-0ffc-43ee-8aa5-7ec47611b497 g.chr10:25886887G>T uc001isj.3 + 10 2392 c.2332G>T c.(2332-2334)Gac>Tac p.D778Y GPR158_uc001isk.3_Missense_Mutation_p.D153Y NM_020752 NP_065803 Q5T848 GP158_HUMAN Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA. 778 integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 GGAGGGCGCCGACCATGGCAC 0.567 GPR158 57512 broad.mit.edu 37 10 25886905 25886905 + Missense_Mutation SNP G G C TCGA-02-0047-01A-01D-1490-08 TCGA-02-0047-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce03026e-b756-43a2-972d-b3a4dcda5491 12cccbae-0ffc-43ee-8aa5-7ec47611b497 g.chr10:25886905G>C uc001isj.3 + 10 2410 c.2350G>C c.(2350-2352)Ggc>Cgc p.G784R GPR158_uc001isk.3_Missense_Mutation_p.G159R NM_020752 NP_065803 Q5T848 GP158_HUMAN Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA. 784 integral to membrane|plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 119 CACAGCCAAAGGCACTGCCCT 0.547 MYO3A 53904 broad.mit.edu 37 10 26446423 26446423 + Missense_Mutation SNP T T A TCGA-02-0047-01A-01D-1490-08 TCGA-02-0047-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce03026e-b756-43a2-972d-b3a4dcda5491 12cccbae-0ffc-43ee-8aa5-7ec47611b497 g.chr10:26446423T>A uc001isn.2 + 25 3338 c.2978T>A c.(2977-2979)cTt>cAt p.L993H MYO3A_uc009xko.1_Missense_Mutation_p.L993H|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Intron NM_017433 NP_059129 Q8NEV4 MYO3A_HUMAN Homo sapiens myosin IIIA (MYO3A), mRNA. 993 Myosin head-like. protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 CATCGGATACTTTTTGCTAAC 0.333 CXCL12 6387 broad.mit.edu 37 10 44876321 44876321 + Silent SNP G G A TCGA-02-0047-01A-01D-1490-08 TCGA-02-0047-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce03026e-b756-43a2-972d-b3a4dcda5491 12cccbae-0ffc-43ee-8aa5-7ec47611b497 g.chr10:44876321G>A uc001jbf.3 - 1 161 c.69C>T c.(67-69)ccC>ccT p.P23P CXCL12_uc001jbh.3_Silent_p.P23P|CXCL12_uc021ppm.1_Silent_p.P23P|CXCL12_uc001jbi.3_Silent_p.P23P NM_000609 NP_000600 P48061 SDF1_HUMAN Homo sapiens chemokine (C-X-C motif) ligand 12 (CXCL12), transcript variant 2, mRNA. 23 blood circulation|cell adhesion|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|negative regulation of leukocyte apoptosis|positive regulation of monocyte chemotaxis|regulation of actin polymerization or depolymerization|response to virus extracellular space chemokine activity|growth factor activity|signal transducer activity p.P23P(4) endometrium(1)|large_intestine(1)|lung(3)|skin(1) 6 Dexamethasone(DB01234) TCAGGCTGACGGGCTTCCCTA 0.507 OR52I2 143502 broad.mit.edu 37 11 4609074 4609074 + Missense_Mutation SNP C C A TCGA-02-0047-01A-01D-1490-08 TCGA-02-0047-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce03026e-b756-43a2-972d-b3a4dcda5491 12cccbae-0ffc-43ee-8aa5-7ec47611b497 g.chr11:4609074C>A uc010qyh.2 + 0 1054 c.1032C>A c.(1030-1032)gaC>gaA p.D344E NM_001005170 NP_001005170 Q8NH67 O52I2_HUMAN Homo sapiens olfactory receptor, family 52, subfamily I, member 2 (OR52I2), mRNA. 344 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1) 19 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) TCCTCTTTGACCATTCCAACC 0.453 TEAD1 7003 broad.mit.edu 37 11 12946585 12946585 + Missense_Mutation SNP G G A TCGA-02-0047-01A-01D-1490-08 TCGA-02-0047-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce03026e-b756-43a2-972d-b3a4dcda5491 12cccbae-0ffc-43ee-8aa5-7ec47611b497 g.chr11:12946585G>A uc021qdx.1 + 10 1620 c.1000G>A c.(1000-1002)Gta>Ata p.V334I TEAD1_uc001mkk.4_Missense_Mutation_p.V238I|TEAD1_uc009ygl.3_Missense_Mutation_p.V155I NM_021961 NP_068780 P28347 TEAD1_HUMAN Homo sapiens TEA domain family member 1 (SV40 transcriptional enhancer factor) (TEAD1), mRNA. 334 Transcriptional activation (Potential). hippo signaling cascade DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9) 17 Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236) GAAGCAAGTAGTAGAAAAAGT 0.438 OR5M3 219482 broad.mit.edu 37 11 56237516 56237516 + Missense_Mutation SNP G G A TCGA-02-0047-01A-01D-1490-08 TCGA-02-0047-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce03026e-b756-43a2-972d-b3a4dcda5491 12cccbae-0ffc-43ee-8aa5-7ec47611b497 g.chr11:56237516G>A uc010rjk.2 - 0 499 c.458C>T c.(457-459)aCg>aTg p.T153M OR8U8_uc001nit.2_Intron NM_001004742 NP_001004742 Q8NGP4 OR5M3_HUMAN Homo sapiens olfactory receptor, family 5, subfamily M, member 3 (OR5M3), mRNA. 153 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 37 Esophageal squamous(21;0.00448) TGCCAGACTCGTCAGAAAACC 0.413 SCYL1 57410 broad.mit.edu 37 11 65303487 65303487 + Missense_Mutation SNP C C T TCGA-02-0047-01A-01D-1490-08 TCGA-02-0047-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce03026e-b756-43a2-972d-b3a4dcda5491 12cccbae-0ffc-43ee-8aa5-7ec47611b497 g.chr11:65303487C>T uc001oea.1 + 10 1527 c.1450C>T c.(1450-1452)Cgg>Tgg p.R484W SCYL1_uc009yqk.3_Missense_Mutation_p.R484W|SCYL1_uc001oeb.1_Missense_Mutation_p.R484W|SCYL1_uc001oec.1_Missense_Mutation_p.R484W|SCYL1_uc001oee.1_Missense_Mutation_p.R128W NM_020680 NP_065731 Q96KG9 NTKL_HUMAN Homo sapiens SCY1-like 1 (S. cerevisiae) (SCYL1), transcript variant A, mRNA. 484 regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus ATP binding|DNA binding|protein tyrosine kinase activity ovary(1)|skin(1) 2 TGCACCGTCCCGGGTTGCGGG 0.597 FAT3 120114 broad.mit.edu 37 11 92568240 92568240 + Missense_Mutation SNP C C T TCGA-02-0047-01A-01D-1490-08 TCGA-02-0047-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce03026e-b756-43a2-972d-b3a4dcda5491 12cccbae-0ffc-43ee-8aa5-7ec47611b497 g.chr11:92568240C>T uc001pdj.4 + 13 10093 c.10076C>T c.(10075-10077)tCt>tTt p.S3359F NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA. 3359 Cadherin 31. 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) GTGGGAGACTCTGTCATTTTG 0.468 TCGA Ovarian(4;0.039) EXPH5 23086 broad.mit.edu 37 11 108380635 108380635 + Missense_Mutation SNP G G A TCGA-02-0047-01A-01D-1490-08 TCGA-02-0047-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce03026e-b756-43a2-972d-b3a4dcda5491 12cccbae-0ffc-43ee-8aa5-7ec47611b497 g.chr11:108380635G>A uc001pkk.3 - 5 5710 c.5599C>T c.(5599-5601)Cgc>Tgc p.R1867C EXPH5_uc010rvz.2_Missense_Mutation_p.R1711C|EXPH5_uc010rvy.2_Missense_Mutation_p.R1679C NM_015065 NP_055880 Q149M6 Q149M6_HUMAN Homo sapiens exophilin 5 (EXPH5), mRNA. 1867 intracellular protein transport Rab GTPase binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1) 91 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) GTCCCGCTGCGATAAGCCCAA 0.428 DDX6 1656 broad.mit.edu 37 11 118626197 118626197 + Missense_Mutation SNP C C T TCGA-02-0047-01A-01D-1490-08 TCGA-02-0047-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce03026e-b756-43a2-972d-b3a4dcda5491 12cccbae-0ffc-43ee-8aa5-7ec47611b497 g.chr11:118626197C>T uc001pub.2 - 11 1551 c.1190G>A c.(1189-1191)gGt>gAt p.G397D DDX6_uc001pua.2_Missense_Mutation_p.G97D|DDX6_uc001puc.2_Missense_Mutation_p.G397D NM_004397 NP_004388 P26196 DDX6_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 6 (DDX6), mRNA. 397 Helicase C-terminal. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity p.G386V(1) NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1) 13 all_hematologic(175;0.0839) Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103) OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377) TATATCAATACCTCGGGTAAA 0.323 T IGH@ B-NHL KDM5A 5927 broad.mit.edu 37 12 416952 416953 + Frame_Shift_Ins INS - - T TCGA-02-0047-01A-01D-1490-08 TCGA-02-0047-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce03026e-b756-43a2-972d-b3a4dcda5491 12cccbae-0ffc-43ee-8aa5-7ec47611b497 g.chr12:416952_416953insT uc001qif.1 - 22 3960_3961 c.3597_3598insA c.(3595-3600)aaaggafs p.K1199fs NM_001042603 NP_001036068 P29375 KDM5A_HUMAN Homo sapiens lysine (K)-specific demethylase 5A (KDM5A), mRNA. 1199 chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2) 77 CAGCTGGATCCTTTTTTTTGGG 0.475 T NUP98 AML B4GALNT3 283358 broad.mit.edu 37 12 662979 662979 + Silent SNP G G A TCGA-02-0047-01A-01D-1490-08 TCGA-02-0047-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce03026e-b756-43a2-972d-b3a4dcda5491 12cccbae-0ffc-43ee-8aa5-7ec47611b497 g.chr12:662979G>A uc001qii.1 + 13 1890 c.1890G>A c.(1888-1890)ccG>ccA p.P630P B4GALNT3_uc001qij.1_Silent_p.P533P|B4GALNT3_uc001qik.1_Silent_p.P179P NM_173593 NP_775864 Q6L9W6 B4GN3_HUMAN Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 3 (B4GALNT3), mRNA. 630 Golgi cisterna membrane|integral to membrane N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215) OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262) TGTTTGACCCGGTAGTAAACT 0.547 CLSTN3 9746 broad.mit.edu 37 12 7294683 7294683 + Silent SNP G G A TCGA-02-0047-01A-01D-1490-08 TCGA-02-0047-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce03026e-b756-43a2-972d-b3a4dcda5491 12cccbae-0ffc-43ee-8aa5-7ec47611b497 g.chr12:7294683G>A uc001qss.3 + 9 2061 c.1523_splice c.e9-1 p.E508_splice CLSTN3_uc001qsr.3_Splice_Site_p.E496_splice NM_014718 NP_055533 Q9BQT9 CSTN3_HUMAN Homo sapiens calsyntenin 3 (CLSTN3), mRNA. 496 homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1) 33 TATCCCCAGAGGAGAAGAACA 0.453 OREG0021650 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) RIMKLB 57494 broad.mit.edu 37 12 8926145 8926162 + In_Frame_Del DEL CTGGCCGGCTCACCCGGC CTGGCCGGCTCACCCGGC - rs34259191 TCGA-02-0047-01A-01D-1490-08 TCGA-02-0047-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce03026e-b756-43a2-972d-b3a4dcda5491 12cccbae-0ffc-43ee-8aa5-7ec47611b497 g.chr12:8926145_8926162delCTGGCCGGCTCACCCGGC uc001qux.2 + 6 2188_2205 c.926_943delCTGGCCGGCTCACCCGGC c.(925-945)tctggccggctcacccggcgt>tgt p.309_315SGRLTRR>C RIMKLB_uc009zgf.2_Intron|RIMKLB_uc010sgl.1_In_Frame_Del_p.309_315SGRLTRR>C|RIMKLB_uc001quw.2_Intron NM_020734 NP_065785 Q9ULI2 RIMKB_HUMAN Homo sapiens ribosomal modification protein rimK-like family member B (RIMKLB), mRNA. 309 protein modification process cytoplasm acid-amino acid ligase activity|ATP binding|metal ion binding p.R314W(2) central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 CTTCTACCCTCTGGCCGGCTCACCCGGCGTATGTCCCT 0.550 BCL2L14 79370 broad.mit.edu 37 12 12247837 12247837 + Silent SNP G G A TCGA-02-0047-01A-01D-1490-08 TCGA-02-0047-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce03026e-b756-43a2-972d-b3a4dcda5491 12cccbae-0ffc-43ee-8aa5-7ec47611b497 g.chr12:12247837G>A uc001rac.3 + 4 1119 c.918G>A c.(916-918)tcG>tcA p.S306S ETV6_uc001raa.1_Intron|BCL2L14_uc001raf.1_Intron|BCL2L14_uc001rad.3_Silent_p.S306S|BCL2L14_uc001rae.3_3'UTR NM_138723 NP_620049 Q9BZR8 B2L14_HUMAN Homo sapiens BCL2-like 14 (apoptosis facilitator) (BCL2L14), transcript variant 4, mRNA. 306 apoptosis|regulation of apoptosis cytosol|endomembrane system|intracellular organelle|membrane protein binding large_intestine(1)|lung(2)|skin(3) 6 Prostate(47;0.0872) BRCA - Breast invasive adenocarcinoma(232;0.154) AGAACTTCTCGCCATGGATCC 0.448 LRP6 4040 broad.mit.edu 37 12 12274335 12274335 + Missense_Mutation SNP G G A TCGA-02-0047-01A-01D-1490-08 TCGA-02-0047-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce03026e-b756-43a2-972d-b3a4dcda5491 12cccbae-0ffc-43ee-8aa5-7ec47611b497 g.chr12:12274335G>A uc001rah.4 - 22 4709 c.4567C>T c.(4567-4569)Cgg>Tgg p.R1523W BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.R1478W NM_002336 NP_002327 O75581 LRP6_HUMAN Homo sapiens low density lipoprotein receptor-related protein 6 (LRP6), mRNA. 1523 cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 85 Prostate(47;0.0865) GCAAAGTGCCGGTAGCTATAT 0.458 TPTE2 93492 broad.mit.edu 37 13 20041405 20041405 + Missense_Mutation SNP A A C TCGA-02-0047-01A-01D-1490-08 TCGA-02-0047-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce03026e-b756-43a2-972d-b3a4dcda5491 12cccbae-0ffc-43ee-8aa5-7ec47611b497 g.chr13:20041405A>C uc001umd.3 - 7 683 c.472T>G c.(472-474)Tac>Gac p.Y158D TPTE2_uc009zzk.3_Intron|TPTE2_uc009zzl.3_Intron|TPTE2_uc001ume.3_Intron|TPTE2_uc009zzm.3_Intron|TPTE2_uc010tcm.2_Non-coding_Transcript NM_199254 NP_954863 Q6XPS3 TPTE2_HUMAN Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA. 158 endoplasmic reticulum membrane|integral to membrane ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 65 all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089) AAAAAAATGTAAATGACATCA 0.294 PABPC3 5042 broad.mit.edu 37 13 25671552 25671552 + Missense_Mutation SNP G G A TCGA-02-0047-01A-01D-1490-08 TCGA-02-0047-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce03026e-b756-43a2-972d-b3a4dcda5491 12cccbae-0ffc-43ee-8aa5-7ec47611b497 g.chr13:25671552G>A uc001upy.3 + 0 1277 c.1216G>A c.(1216-1218)Gct>Act p.A406T NM_030979 NP_112241 Q9H361 PABP3_HUMAN Homo sapiens poly(A) binding protein, cytoplasmic 3 (PABPC3), mRNA. 406 mRNA metabolic process cytoplasm nucleotide binding|poly(A) RNA binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) CTTCATGACAGCTGTCCCACA 0.532 PROSER1 80209 broad.mit.edu 37 13 39586362 39586362 + Missense_Mutation SNP G G A TCGA-02-0047-01A-01D-1490-08 TCGA-02-0047-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce03026e-b756-43a2-972d-b3a4dcda5491 12cccbae-0ffc-43ee-8aa5-7ec47611b497 g.chr13:39586362G>A uc001uwy.3 - 11 3443 c.2570C>T c.(2569-2571)tCt>tTt p.S857F PROSER1_uc001uwz.3_Missense_Mutation_p.S835F NM_025138 NP_079414 Q86XN7 CM023_HUMAN Homo sapiens proline and serine rich 1 (PROSER1), transcript variant 1, mRNA. 857 TTGAAGTCCAGATGATAAACT 0.383 DIS3 22894 broad.mit.edu 37 13 73336102 73336102 + Missense_Mutation SNP T T A TCGA-02-0047-01A-01D-1490-08 TCGA-02-0047-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce03026e-b756-43a2-972d-b3a4dcda5491 12cccbae-0ffc-43ee-8aa5-7ec47611b497 g.chr13:73336102T>A uc001vix.4 - 16 2675 c.2301A>T c.(2299-2301)ttA>ttT p.L767F DIS3_uc001viy.4_Missense_Mutation_p.L737F|DIS3_uc001viz.3_Non-coding_Transcript NM_014953 NP_055768 Q9Y2L1 RRP44_HUMAN Homo sapiens DIS3 mitotic control homolog (S. cerevisiae) (DIS3), transcript variant 1, mRNA. 767 CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing cytosol|exosome (RNase complex)|nucleolus|nucleoplasm 3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1) 35 Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195) GBM - Glioblastoma multiforme(99;0.000181) TTGGAGACGCTAAGCCATAGT 0.328 Multiple Myeloma(4;0.011) GPR132 29933 broad.mit.edu 37 14 105518226 105518226 + Missense_Mutation SNP C C T TCGA-02-0047-01A-01D-1490-08 TCGA-02-0047-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce03026e-b756-43a2-972d-b3a4dcda5491 12cccbae-0ffc-43ee-8aa5-7ec47611b497 g.chr14:105518226C>T uc001yqd.3 - 3 1147 c.248G>A c.(247-249)tGc>tAc p.C83Y GPR132_uc001yqc.3_5'UTR|GPR132_uc001yqe.3_Missense_Mutation_p.C74Y NM_013345 NP_037477 Q9UNW8 GP132_HUMAN Homo sapiens G protein-coupled receptor 132 (GPR132), mRNA. 83 response to stress integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1) 18 all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219) OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227) Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521) GAGTGCCAGGCAGAGCAGGTA 0.662 RYR3 6263 broad.mit.edu 37 15 34047281 34047281 + Missense_Mutation SNP G G A TCGA-02-0047-01A-01D-1490-08 TCGA-02-0047-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce03026e-b756-43a2-972d-b3a4dcda5491 12cccbae-0ffc-43ee-8aa5-7ec47611b497 g.chr15:34047281G>A uc001zhi.3 + 57 8485 c.8415G>A c.(8413-8415)atG>atA p.M2805I RYR3_uc010bar.3_Missense_Mutation_p.M2805I NM_001036 NP_001027 Q15413 RYR3_HUMAN Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA. 2805 4 X approximate repeats. cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) TGAAGGATATGGAGCTGGATG 0.458 BUB1B 701 broad.mit.edu 37 15 40512942 40512942 + Silent SNP G G A TCGA-02-0047-01A-01D-1490-08 TCGA-02-0047-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce03026e-b756-43a2-972d-b3a4dcda5491 12cccbae-0ffc-43ee-8aa5-7ec47611b497 g.chr15:40512942G>A uc001zkx.4 + 22 3347 c.3135G>A c.(3133-3135)ggG>ggA p.G1045G PAK6_uc010bbl.3_Intron|PAK6_uc010bbm.3_Intron NM_001211 NP_001202 O60566 BUB1B_HUMAN Homo sapiens budding uninhibited by benzimidazoles 1 homolog beta (yeast) (BUB1B), mRNA. 1045 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) CTAGTCCTGGGGCTTTGCTCT 0.443 """Mis, N, F, S""" rhabdomyosarcoma Mosaic Variegated Aneuploidy Syndrome ZNF280D 54816 broad.mit.edu 37 15 56993158 56993158 + Frame_Shift_Del DEL A A - TCGA-02-0047-01A-01D-1490-08 TCGA-02-0047-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce03026e-b756-43a2-972d-b3a4dcda5491 12cccbae-0ffc-43ee-8aa5-7ec47611b497 g.chr15:56993158delA uc002adu.3 - 5 571 c.354delT c.(352-354)tctfs p.S118fs ZNF280D_uc002adv.3_Frame_Shift_Del_p.S105fs|ZNF280D_uc010bfq.3_Frame_Shift_Del_p.S118fs|ZNF280D_uc002adw.1_Frame_Shift_Del_p.S146fs|ZNF280D_uc010bfr.1_Non-coding_Transcript|ZNF280D_uc002ady.3_Frame_Shift_Del_p.S118fs|ZNF280D_uc002adx.3_Frame_Shift_Del_p.S118fs NM_017661 NP_001002843 Q6N043 Z280D_HUMAN Homo sapiens zinc finger protein 280D (ZNF280D), transcript variant 1, mRNA. 118 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1) 30 all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787) GAACAATAACAGAACTATCTG 0.393 ADAMTS7 11173 broad.mit.edu 37 15 79059831 79059831 + Missense_Mutation SNP T T G TCGA-02-0047-01A-01D-1490-08 TCGA-02-0047-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce03026e-b756-43a2-972d-b3a4dcda5491 12cccbae-0ffc-43ee-8aa5-7ec47611b497 g.chr15:79059831T>G uc002bej.4 - 17 2960 c.2749A>C c.(2749-2751)Agc>Cgc p.S917R ADAMTS7_uc010und.1_Intron NM_014272 NP_055087 Q9UKP4 ATS7_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA. 917 TSP type-1 3. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9) 54 TCCAGGGCGCTCTGCTCATCC 0.701 C16orf91 283951 broad.mit.edu 37 16 1478504 1478504 + Silent SNP C C T TCGA-02-0047-01A-01D-1490-08 TCGA-02-0047-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce03026e-b756-43a2-972d-b3a4dcda5491 12cccbae-0ffc-43ee-8aa5-7ec47611b497 g.chr16:1478504C>T uc010uvd.2 - 1 147 c.147G>A c.(145-147)gcG>gcA p.A49A NM_001010878 NP_001010878 Q4G0I0 CSMT1_HUMAN Homo sapiens chromosome 16 open reading frame 91 (C16orf91), mRNA. 0 integral to membrane breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 11 CTGCCGCCCGCGCCTTTCAGG 0.677 CREBBP 1387 broad.mit.edu 37 16 3843446 3843446 + Frame_Shift_Del DEL C C - TCGA-02-0047-01A-01D-1490-08 TCGA-02-0047-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce03026e-b756-43a2-972d-b3a4dcda5491 12cccbae-0ffc-43ee-8aa5-7ec47611b497 g.chr16:3843446delC uc002cvv.3 - 3 1361 c.1157delG c.(1156-1158)cgafs p.R386fs CREBBP_uc002cvw.3_Frame_Shift_Del_p.R386fs NM_004380 NP_004371 Q92793 CBP_HUMAN Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA. 386 Interaction with SRCAP. cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding p.T387fs*5(1)|p.R386*(1) NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) TTTCATGGTTCGACAATGCGG 0.507 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome ABR 29 broad.mit.edu 37 17 953842 953842 + Missense_Mutation SNP C C T TCGA-02-0047-01A-01D-1490-08 TCGA-02-0047-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce03026e-b756-43a2-972d-b3a4dcda5491 12cccbae-0ffc-43ee-8aa5-7ec47611b497 g.chr17:953842C>T uc002fsd.3 - 14 1704 c.1594G>A c.(1594-1596)Ggc>Agc p.G532S ABR_uc002fse.3_Missense_Mutation_p.G486S|ABR_uc010vqg.2_Missense_Mutation_p.G314S|ABR_uc002fsg.3_Missense_Mutation_p.G495S|ABR_uc002fsh.1_Intron NM_021962 NP_001153218 Q12979 ABR_HUMAN Homo sapiens active BCR-related gene (ABR), transcript variant 1, mRNA. 532 C2. 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 GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 UCEC - Uterine corpus endometrioid carcinoma (25;0.0228) ACAAAATAGCCGAAGGAATCC 0.617 SPACA3 124912 broad.mit.edu 37 17 31322643 31322643 + Frame_Shift_Del DEL C C - TCGA-02-0047-01A-01D-1490-08 TCGA-02-0047-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce03026e-b756-43a2-972d-b3a4dcda5491 12cccbae-0ffc-43ee-8aa5-7ec47611b497 g.chr17:31322643delC uc002hhs.1 + 1 326 c.251delC c.(250-252)tccfs p.S84fs SPACA3_uc010cte.1_Non-coding_Transcript NM_173847 NP_776246 Q8IXA5 SACA3_HUMAN Homo sapiens sperm acrosome associated 3 (SPACA3), mRNA. 84 cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus acrosomal membrane|extracellular region|integral to membrane|lysosome bacterial cell surface binding|lysozyme activity|protein binding breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(9;0.193) CTGCTACCCTCCAGTGAGGCC 0.607 SLC35G3 146861 broad.mit.edu 37 17 33521251 33521251 + Missense_Mutation SNP G G A TCGA-02-0047-01A-01D-1490-08 TCGA-02-0047-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce03026e-b756-43a2-972d-b3a4dcda5491 12cccbae-0ffc-43ee-8aa5-7ec47611b497 g.chr17:33521251G>A uc002hjd.2 - 0 162 c.76C>T c.(76-78)Cgc>Tgc p.R26C NM_152462 NP_689675 Q8N808 AMAC1_HUMAN Homo sapiens solute carrier family 35, member G3 (SLC35G3), mRNA. 26 integral to membrane TGGTACCAGCGGAGGCTGGGT 0.657 GSDMA 284110 broad.mit.edu 37 17 38122551 38122551 + Silent SNP C C T TCGA-02-0047-01A-01D-1490-08 TCGA-02-0047-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce03026e-b756-43a2-972d-b3a4dcda5491 12cccbae-0ffc-43ee-8aa5-7ec47611b497 g.chr17:38122551C>T uc002htl.1 + 2 371 c.253C>T c.(253-255)Ctg>Ttg p.L85L GSDMA_uc002htm.1_Silent_p.L85L NM_178171 NP_835465 Q96QA5 GSDMA_HUMAN Homo sapiens gasdermin A (GSDMA), mRNA. 85 apoptosis|induction of apoptosis perinuclear region of cytoplasm NS(1)|endometrium(2)|large_intestine(3)|lung(1) 7 TAAGAATATGCTGGACACCCG 0.537 KRT15 3866 broad.mit.edu 37 17 39673185 39673185 + Missense_Mutation SNP C C T rs138271368 TCGA-02-0047-01A-01D-1490-08 TCGA-02-0047-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce03026e-b756-43a2-972d-b3a4dcda5491 12cccbae-0ffc-43ee-8aa5-7ec47611b497 g.chr17:39673185C>T uc002hwy.3 - 2 804 c.613G>A c.(613-615)Gtt>Att p.V205I KRT15_uc002hwz.3_Missense_Mutation_p.V107I|KRT15_uc002hxa.3_Missense_Mutation_p.V40I|KRT15_uc002hxb.1_Missense_Mutation_p.V40I NM_002275 NP_002266 P19012 K1C15_HUMAN Homo sapiens keratin 15 (KRT15), mRNA. 205 Coil 1B.|Rod. epidermis development intermediate filament protein binding|structural constituent of cytoskeleton p.V205I(6) NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 Breast(137;0.000286) TCAGCCTCAACGCCCTGGCGC 0.612 ARSG 22901 broad.mit.edu 37 17 66391258 66391258 + Missense_Mutation SNP G G A TCGA-02-0047-01A-01D-1490-08 TCGA-02-0047-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce03026e-b756-43a2-972d-b3a4dcda5491 12cccbae-0ffc-43ee-8aa5-7ec47611b497 g.chr17:66391258G>A uc002jhc.2 + 9 1932 c.1136G>A c.(1135-1137)aGc>aAc p.S379N TRNA_Und_uc021uce.1_5'Flank NM_014960 NP_055775 Q96EG1 ARSG_HUMAN Homo sapiens arylsulfatase G (ARSG), mRNA. 379 sulfur compound metabolic process endoplasmic reticulum|extracellular space|lysosome arylsulfatase activity|metal ion binding NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 26 BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24) GCCCAGGCCAGCTTACCTCAA 0.587 NEDD4L 23327 broad.mit.edu 37 18 56010160 56010160 + Missense_Mutation SNP G G A TCGA-02-0047-01A-01D-1490-08 TCGA-02-0047-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce03026e-b756-43a2-972d-b3a4dcda5491 12cccbae-0ffc-43ee-8aa5-7ec47611b497 g.chr18:56010160G>A uc002lgy.3 + 15 1683 c.1400G>A c.(1399-1401)cGt>cAt p.R467H NEDD4L_uc002lgz.3_Missense_Mutation_p.R403H|NEDD4L_uc002lgx.3_Missense_Mutation_p.R447H|NEDD4L_uc010xee.1_Missense_Mutation_p.R346H|NEDD4L_uc002lhc.2_Missense_Mutation_p.R459H|NEDD4L_uc002lhd.2_Missense_Mutation_p.R346H|NEDD4L_uc002lhb.2_Missense_Mutation_p.R326H|NEDD4L_uc002lhe.2_Missense_Mutation_p.R439H|NEDD4L_uc002lhf.3_Missense_Mutation_p.R326H|NEDD4L_uc002lhg.3_Missense_Mutation_p.R346H|NEDD4L_uc002lhh.2_Missense_Mutation_p.R242H|NEDD4L_uc010dpm.1_Intron NM_001144967 NP_001138439 Q96PU5 NED4L_HUMAN Homo sapiens neural precursor cell expressed, developmentally down-regulated 4-like (NEDD4L), transcript variant j, mRNA. 467 cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis cytoplasm protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4) 37 TCACCCGTACGTCGGGCTGTG 0.488 HMG20B 10362 broad.mit.edu 37 19 3578077 3578077 + Missense_Mutation SNP G G A TCGA-02-0047-01A-01D-1490-08 TCGA-02-0047-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce03026e-b756-43a2-972d-b3a4dcda5491 12cccbae-0ffc-43ee-8aa5-7ec47611b497 g.chr19:3578077G>A uc002lya.3 + 8 975 c.907G>A c.(907-909)Gtc>Atc p.V303I HMG20B_uc002lyb.3_Missense_Mutation_p.V201I NM_006339 NP_006330 Q9P0W2 HM20B_HUMAN Homo sapiens high mobility group 20B (HMG20B), mRNA. 303 blood coagulation|cell cycle|chromatin modification chromosome|nucleoplasm DNA binding|sequence-specific DNA binding transcription factor activity cervix(1) 1 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18) GAAGCTCATCGTCCGCATCAA 0.701 SAFB 6294 broad.mit.edu 37 19 5668177 5668177 + Missense_Mutation SNP G G A TCGA-02-0047-01A-01D-1490-08 TCGA-02-0047-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce03026e-b756-43a2-972d-b3a4dcda5491 12cccbae-0ffc-43ee-8aa5-7ec47611b497 g.chr19:5668177G>A uc002mcg.3 + 20 2800 c.2629G>A c.(2629-2631)Ggc>Agc p.G877S SAFB_uc002mcf.3_Missense_Mutation_p.G875S|SAFB_uc002mce.4_Missense_Mutation_p.G876S|SAFB_uc010xis.2_Missense_Mutation_p.G808S|SAFB_uc010xit.2_Missense_Mutation_p.G719S|SAFB_uc010xir.2_Missense_Mutation_p.G874S|SAFB_uc010xiu.2_Missense_Mutation_p.G676S NM_001201338 NP_001188267 Q15424 SAFB1_HUMAN Homo sapiens scaffold attachment factor B (SAFB), transcript variant 1, mRNA. 875 Gly-rich.|Interaction with SAFB2. chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus double-stranded DNA binding|nucleotide binding|protein binding|RNA binding breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1) 23 UCEC - Uterine corpus endometrioid carcinoma (162;0.000222) TCCTAGGCGCGGCAGCTTTGC 0.677 ZNF814 730051 broad.mit.edu 37 19 58385546 58385546 + Missense_Mutation SNP G G T TCGA-02-0047-01A-01D-1490-08 TCGA-02-0047-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce03026e-b756-43a2-972d-b3a4dcda5491 12cccbae-0ffc-43ee-8aa5-7ec47611b497 g.chr19:58385546G>T uc002qqo.2 - 2 1484 c.1212C>A c.(1210-1212)gaC>gaA p.D404E ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.2_Intron NM_001144989 NP_001138461 B7Z6K7 ZN814_HUMAN Homo sapiens zinc finger protein 814 (ZNF814), mRNA. 404 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding p.D404E(20) NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3) 25 AATGTTTTTTGTCAGTGTGAA 0.393 SPTBN1 6711 broad.mit.edu 37 2 54852086 54852086 + Missense_Mutation SNP G G A TCGA-02-0047-01A-01D-1490-08 TCGA-02-0047-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce03026e-b756-43a2-972d-b3a4dcda5491 12cccbae-0ffc-43ee-8aa5-7ec47611b497 g.chr2:54852086G>A uc002rxu.3 + 10 1577 c.1328G>A c.(1327-1329)cGt>cAt p.R443H SPTBN1_uc002rxv.1_Missense_Mutation_p.R443H|SPTBN1_uc002rxx.3_Missense_Mutation_p.R430H NM_003128 NP_003119 Q01082 SPTB2_HUMAN Homo sapiens spectrin, beta, non-erythrocytic 1 (SPTBN1), transcript variant 1, mRNA. 443 actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 82 Lung(47;0.24) GAAAACCAGCGTCTGGTGTCT 0.507 BCL11A 53335 broad.mit.edu 37 2 60688379 60688379 + Missense_Mutation SNP C C G TCGA-02-0047-01A-01D-1490-08 TCGA-02-0047-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce03026e-b756-43a2-972d-b3a4dcda5491 12cccbae-0ffc-43ee-8aa5-7ec47611b497 g.chr2:60688379C>G uc002sae.1 - 3 1896 c.1668G>C c.(1666-1668)caG>caC p.Q556H BCL11A_uc002sab.3_Missense_Mutation_p.Q556H|BCL11A_uc002sac.3_Intron|BCL11A_uc010ypi.2_Missense_Mutation_p.Q225H|BCL11A_uc010ypj.2_Missense_Mutation_p.Q522H|BCL11A_uc002sad.1_Missense_Mutation_p.Q404H|BCL11A_uc002saf.1_Missense_Mutation_p.Q522H NM_022893 NP_075044 Q9H165 BC11A_HUMAN Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA. 556 negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 59 LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199) CGCTGAAGTGCTGCATGGAGC 0.697 T IGH@ B-CLL SLC9A4 389015 broad.mit.edu 37 2 103095487 103095487 + Missense_Mutation SNP G G A TCGA-02-0047-01A-01D-1490-08 TCGA-02-0047-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce03026e-b756-43a2-972d-b3a4dcda5491 12cccbae-0ffc-43ee-8aa5-7ec47611b497 g.chr2:103095487G>A uc002tbz.4 + 1 903 c.446G>A c.(445-447)cGg>cAg p.R149Q NM_001011552 NP_001011552 Q6AI14 SL9A4_HUMAN Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA. 149 regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 ATGCCCACCCGGCCCTTCTTT 0.597 IL1B 3553 broad.mit.edu 37 2 113588108 113588108 + Nonsense_Mutation SNP G G A TCGA-02-0047-01A-01D-1490-08 TCGA-02-0047-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce03026e-b756-43a2-972d-b3a4dcda5491 12cccbae-0ffc-43ee-8aa5-7ec47611b497 g.chr2:113588108G>A uc002tii.1 - 6 727 c.640C>T c.(640-642)Cga>Tga p.R214* IL1B_uc002tih.1_Nonsense_Mutation_p.R183* NM_000576 NP_000567 P01584 IL1B_HUMAN Homo sapiens interleukin 1, beta (IL1B), mRNA. 214 activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|negative regulation of MAP kinase activity|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation of T cell proliferation|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation cytosol|extracellular space cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8) 12 Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366) AAGACAAATCGCTTTTCCATC 0.423 TUBA4A 7277 broad.mit.edu 37 2 220116339 220116339 + Missense_Mutation SNP T T C TCGA-02-0047-01A-01D-1490-08 TCGA-02-0047-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce03026e-b756-43a2-972d-b3a4dcda5491 12cccbae-0ffc-43ee-8aa5-7ec47611b497 g.chr2:220116339T>C uc002vkt.1 - 2 381 c.323A>G c.(322-324)tAt>tGt p.Y108C TUBA4A_uc010zkz.1_Missense_Mutation_p.Y93C|TUBA4B_uc002vku.3_5'Flank|TUBA4B_uc002vkv.1_5'Flank NM_006000 NP_005991 P68366 TBA4A_HUMAN Homo sapiens tubulin, alpha 4a (TUBA4A), mRNA. 108 'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization cytosol|extracellular region|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 20 Renal(207;0.0474) Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GCCAATGGTATAGTGACCACG 0.532 DES 1674 broad.mit.edu 37 2 220286104 220286104 + Missense_Mutation SNP T T A TCGA-02-0047-01A-01D-1490-08 TCGA-02-0047-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce03026e-b756-43a2-972d-b3a4dcda5491 12cccbae-0ffc-43ee-8aa5-7ec47611b497 g.chr2:220286104T>A uc002vll.3 + 5 1152 c.1066T>A c.(1066-1068)Ttt>Att p.F356I NM_001927 NP_001918 P17661 DESM_HUMAN Homo sapiens desmin (DES), mRNA. 356 Coil 2B.|Rod. cytoskeleton organization|muscle filament sliding|regulation of heart contraction cytosol|Z disc protein binding|structural constituent of cytoskeleton p.F356I(2) breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(10)|skin(1) 18 Renal(207;0.0183) Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008) GGAGGACCGATTTGCCAGTGA 0.587 COL4A4 1286 broad.mit.edu 37 2 227886828 227886828 + Silent SNP C C T rs75398993 by1000genomes TCGA-02-0047-01A-01D-1490-08 TCGA-02-0047-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce03026e-b756-43a2-972d-b3a4dcda5491 12cccbae-0ffc-43ee-8aa5-7ec47611b497 g.chr2:227886828C>T uc021vxr.1 - 42 4253 c.4152G>A c.(4150-4152)gcG>gcA p.A1384A COL4A4_uc021vxs.1_Silent_p.A1381A NM_000092 NP_000083 P53420 CO4A4_HUMAN Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA. 1384 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) TCATGCCTGGCGCCCCAGGAA 0.567 BTBD3 22903 broad.mit.edu 37 20 11899075 11899075 + Missense_Mutation SNP A A G TCGA-02-0047-01A-01D-1490-08 TCGA-02-0047-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce03026e-b756-43a2-972d-b3a4dcda5491 12cccbae-0ffc-43ee-8aa5-7ec47611b497 g.chr20:11899075A>G uc002wnz.3 + 0 511 c.152A>G c.(151-153)gAa>gGa p.E51G BTBD3_uc002wny.3_5'UTR|BTBD3_uc002woa.3_5'UTR|BTBD3_uc010zrf.2_5'UTR|BTBD3_uc010zrg.2_5'Flank|BTBD3_uc010zrh.2_5'Flank NM_014962 NP_852108 Q9Y2F9 BTBD3_HUMAN Homo sapiens BTB (POZ) domain containing 3 (BTBD3), transcript variant 1, mRNA. 51 p.E51K(1) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2) 34 GTTTGTTATGAAATAATTACC 0.458 RPRD1B 58490 broad.mit.edu 37 20 36676850 36676850 + Missense_Mutation SNP T T C TCGA-02-0047-01A-01D-1490-08 TCGA-02-0047-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce03026e-b756-43a2-972d-b3a4dcda5491 12cccbae-0ffc-43ee-8aa5-7ec47611b497 g.chr20:36676850T>C uc002xho.4 + 2 784 c.382T>C c.(382-384)Tct>Cct p.S128P NM_021215 NP_067038 Q9NQG5 RPR1B_HUMAN Homo sapiens regulation of nuclear pre-mRNA domain containing 1B (RPRD1B), mRNA. 128 CID. endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1) 12 GCTGAAGCTGTCTATGGAGGA 0.453 DNAJC28 54943 broad.mit.edu 37 21 34860697 34860697 + Missense_Mutation SNP A A G TCGA-02-0047-01A-01D-1490-08 TCGA-02-0047-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce03026e-b756-43a2-972d-b3a4dcda5491 12cccbae-0ffc-43ee-8aa5-7ec47611b497 g.chr21:34860697A>G uc021wim.1 - 0 1004 c.1004T>C c.(1003-1005)gTc>gCc p.V335A DNAJC28_uc002yrv.3_Missense_Mutation_p.V335A|DNAJC28_uc002yrw.3_Missense_Mutation_p.V335A NM_017833 NP_060303 Q9NX36 DJC28_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 28 (DNAJC28), transcript variant 1, mRNA. 335 LIVPILTRQKVHFDAQKEIVRAQKIYETLIKTKEVTDRNPN NLDQGEGEKTPEIKKGFLNWMNLWKFIKIRSF -> CSHPD QAKSPF (in Ref. 2; BAA91185). heat shock protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(5)|skin(1)|urinary_tract(1) 18 CTGGGCTCTGACAATTTCTTT 0.343 SOX10 6663 broad.mit.edu 37 22 38369502 38369502 + Nonstop_Mutation SNP T T G TCGA-02-0047-01A-01D-1490-08 TCGA-02-0047-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce03026e-b756-43a2-972d-b3a4dcda5491 12cccbae-0ffc-43ee-8aa5-7ec47611b497 g.chr22:38369502T>G uc003aun.1 - 3 1679 c.1401A>C c.(1399-1401)taA>taC p.*467Y AK098727_uc003aum.3_Intron|SOX10_uc003auo.1_Nonstop_Mutation_p.*467Y NM_006941 NP_008872 P56693 SOX10_HUMAN Homo sapiens SRY (sex determining region Y)-box 10 (SOX10), mRNA. 0 cytoplasm|nucleus DNA binding|identical protein binding|transcription coactivator activity NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2) 20 Melanoma(58;0.045) AGGGCCCCCTTTAGGGCCGGG 0.692 CELSR1 9620 broad.mit.edu 37 22 46807508 46807508 + Missense_Mutation SNP C C T TCGA-02-0047-01A-01D-1490-08 TCGA-02-0047-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce03026e-b756-43a2-972d-b3a4dcda5491 12cccbae-0ffc-43ee-8aa5-7ec47611b497 g.chr22:46807508C>T uc003bhw.1 - 5 4760 c.4760G>A c.(4759-4761)gGc>gAc p.G1587D CELSR1_uc011arc.1_5'Flank NM_014246 NP_055061 Q9NYQ6 CELR1_HUMAN Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA. 1587 Laminin G-like 1. 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) CTTCTTGGAGCCGGTCTGAGT 0.632 PLXNB2 23654 broad.mit.edu 37 22 50719359 50719359 + Silent SNP C C T TCGA-02-0047-01A-01D-1490-08 TCGA-02-0047-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce03026e-b756-43a2-972d-b3a4dcda5491 12cccbae-0ffc-43ee-8aa5-7ec47611b497 g.chr22:50719359C>T uc003bkv.4 - 23 3900 c.3807G>A c.(3805-3807)gaG>gaA p.E1269E PLXNB2_uc003bkt.1_Silent_p.E61E|PLXNB2_uc003bku.1_Silent_p.E254E NM_012401 NP_036533 O15031 PLXB2_HUMAN Homo sapiens plexin B2 (PLXNB2), mRNA. 1269 regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_cancers(38;5.78e-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) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) GGATGCCGGCCTCGTGCACGT 0.652 ZNF385D 79750 broad.mit.edu 37 3 21462765 21462765 + Missense_Mutation SNP G G A TCGA-02-0047-01A-01D-1490-08 TCGA-02-0047-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce03026e-b756-43a2-972d-b3a4dcda5491 12cccbae-0ffc-43ee-8aa5-7ec47611b497 g.chr3:21462765G>A uc003cce.3 - 7 1537 c.1129C>T c.(1129-1131)Cgg>Tgg p.R377W NM_024697 NP_078973 Q9H6B1 Z385D_HUMAN Homo sapiens zinc finger protein 385D (ZNF385D), mRNA. 377 nucleus nucleic acid binding|zinc ion binding p.R377W(2) NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4) 46 GGAGCTGGCCGCAGGAGTGCC 0.532 PIK3CA 5290 broad.mit.edu 37 3 178921553 178921553 + Missense_Mutation SNP T T A rs121913284 TCGA-02-0047-01A-01D-1490-08 TCGA-02-0047-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce03026e-b756-43a2-972d-b3a4dcda5491 12cccbae-0ffc-43ee-8aa5-7ec47611b497 g.chr3:178921553T>A uc003fjk.3 + 4 1192 c.1035T>A c.(1033-1035)aaT>aaA p.N345K NM_006218 NP_006209 P42336 PK3CA_HUMAN Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA. 345 epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.N345K(89)|p.V344G(5)|p.V344A(3)|p.N345I(3)|p.V344M(3)|p.N345D(2)|p.N345S(1) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) CCTACGTGAATGTAAATATTC 0.308 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) PDGFRA 5156 broad.mit.edu 37 4 55152112 55152113 + In_Frame_Ins INS - - TTT TCGA-02-0047-01A-01D-1490-08 TCGA-02-0047-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce03026e-b756-43a2-972d-b3a4dcda5491 12cccbae-0ffc-43ee-8aa5-7ec47611b497 g.chr4:55152112_55152113insTTT uc003han.4 + 17 2875_2876 c.2544_2545insTTT c.(2542-2547)insTTT p.848_849insF PDGFRA_uc003haa.3_In_Frame_Ins_p.608_609insF NM_006206 NP_006197 P16234 PGFRA_HUMAN Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA. 848 Protein kinase. cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity p.(814_854)?(57)|p.M844_S847del(9)|p.I843_S847>T(7)|p.Y849C(4)|p.H845_N848>P(3)|p.Y849D(2)|p.M844_S847>P(2)|p.Y849S(2)|p.N848K(2)|p.S847fs*1(1)|p.H845_N848del(1)|p.I843_S847>H(1)|p.D842_S847>EA(1)|p.I843_S847>L(1)|p.D842_S847>RV(1)|p.I843_S847>I(1) NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1) 967 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) ATGATTCGAACTATGTGTCGAA 0.495 """Mis, O, T""" FIP1L1 """GIST, idiopathic hypereosinophilic syndrome, paediatric GBM""" Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis TSP Lung(21;0.16) EPHA5 2044 broad.mit.edu 37 4 66467624 66467624 + Missense_Mutation SNP T T A TCGA-02-0047-01A-01D-1490-08 TCGA-02-0047-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce03026e-b756-43a2-972d-b3a4dcda5491 12cccbae-0ffc-43ee-8aa5-7ec47611b497 g.chr4:66467624T>A uc003hcy.3 - 2 838 c.645A>T c.(643-645)caA>caT p.Q215H EPHA5_uc003hcx.3_Missense_Mutation_p.Q146H|EPHA5_uc003hcz.3_Missense_Mutation_p.Q215H|EPHA5_uc011cah.2_Missense_Mutation_p.Q215H|EPHA5_uc011cai.2_Missense_Mutation_p.Q215H|EPHA5_uc003hda.2_Missense_Mutation_p.Q215H NM_004439 NP_004430 P54756 EPHA5_HUMAN Homo sapiens EPH receptor A5 (EPHA5), transcript variant 1, mRNA. 215 cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 142 CACCAACATCTTGAAAAGCAA 0.428 TSP Lung(17;0.13) CEP170P1 645455 broad.mit.edu 37 4 119475218 119475218 + Missense_Mutation SNP C C T TCGA-02-0047-01A-01D-1490-08 TCGA-02-0047-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce03026e-b756-43a2-972d-b3a4dcda5491 12cccbae-0ffc-43ee-8aa5-7ec47611b497 g.chr4:119475218C>T uc003icb.3 + 7 929 c.845C>T c.(844-846)cCt>cTt p.P282L Homo sapiens centrosomal protein 170kDa pseudogene 1 (CEP170P1), non-coding RNA. AGAGTCAACCCTGATGGGGAA 0.408 FGA 2243 broad.mit.edu 37 4 155507575 155507575 + Missense_Mutation SNP A A G TCGA-02-0047-01A-01D-1490-08 TCGA-02-0047-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce03026e-b756-43a2-972d-b3a4dcda5491 12cccbae-0ffc-43ee-8aa5-7ec47611b497 g.chr4:155507575A>G uc003iod.1 - 4 1064 c.1006T>C c.(1006-1008)Tct>Cct p.S336P FGA_uc003ioe.1_Missense_Mutation_p.S336P|FGA_uc003iof.1_Intron NM_000508 NP_000499 P02671 FIBA_HUMAN Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA. 336 platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 73 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) GAGCTCCCAGAGTTCCAGCTT 0.567 FBXO8 26269 broad.mit.edu 37 4 175180976 175180976 + Silent SNP C C A TCGA-02-0047-01A-01D-1490-08 TCGA-02-0047-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce03026e-b756-43a2-972d-b3a4dcda5491 12cccbae-0ffc-43ee-8aa5-7ec47611b497 g.chr4:175180976C>A uc003itp.3 - 3 1180 c.330_splice c.e3-1 p.G110_splice FBXO8_uc003itq.3_Splice_Site_p.G69_splice NM_012180 NP_036312 Q9NRD0 FBX8_HUMAN Homo sapiens F-box protein 8 (FBXO8), mRNA. 110 F-box. regulation of ARF protein signal transduction|ubiquitin-dependent protein catabolic process cytoplasm|ubiquitin ligase complex ARF guanyl-nucleotide exchange factor activity breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|urinary_tract(1) 14 Prostate(90;0.00201)|Melanoma(52;0.012)|Renal(120;0.0183)|all_neural(102;0.0887)|all_hematologic(60;0.107) all cancers(43;7.29e-18)|Epithelial(43;1.85e-15)|OV - Ovarian serous cystadenocarcinoma(60;5.62e-09)|GBM - Glioblastoma multiforme(59;0.00115)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.1) ATTTGCACAACCTATAAAATC 0.318 WWC2 80014 broad.mit.edu 37 4 184201980 184201980 + Missense_Mutation SNP G G C TCGA-02-0047-01A-01D-1490-08 TCGA-02-0047-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce03026e-b756-43a2-972d-b3a4dcda5491 12cccbae-0ffc-43ee-8aa5-7ec47611b497 g.chr4:184201980G>C uc010irx.3 + 16 2796 c.2614G>C c.(2614-2616)Gaa>Caa p.E872Q WWC2_uc003ivk.4_Missense_Mutation_p.E667Q|WWC2_uc003ivl.4_Non-coding_Transcript|WWC2_uc010iry.3_Missense_Mutation_p.E554Q|WWC2_uc003ivn.4_Missense_Mutation_p.E387Q|WWC2_uc010irz.3_Missense_Mutation_p.E189Q|WWC2_uc003ivo.4_5'Flank NM_024949 NP_079225 Q6AWC2 WWC2_HUMAN Homo sapiens WW and C2 domain containing 2 (WWC2), mRNA. 872 NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3) 32 all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202) all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242) GTTAGCTGTGgaacaagaatt 0.403 GFM2 84340 broad.mit.edu 37 5 74028894 74028894 + Missense_Mutation SNP G G A rs139234343 TCGA-02-0047-01A-01D-1490-08 TCGA-02-0047-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce03026e-b756-43a2-972d-b3a4dcda5491 12cccbae-0ffc-43ee-8aa5-7ec47611b497 g.chr5:74028894G>A uc010izj.1 - 16 1962 c.1636C>T c.(1636-1638)Cgt>Tgt p.R546C GFM2_uc003kdh.1_Missense_Mutation_p.R514C|GFM2_uc003kdi.1_Missense_Mutation_p.R467C|GFM2_uc010izk.1_Non-coding_Transcript NM_032380 NP_115756 Q969S9 RRF2M_HUMAN Homo sapiens G elongation factor, mitochondrial 2 (GFM2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 514 mitochondrial translation|ribosome disassembly mitochondrion GTP binding|GTPase activity breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1) 14 all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231) OV - Ovarian serous cystadenocarcinoma(47;1.86e-56) GGATCTTCACGCTGAAGACAT 0.348 GFM2 84340 broad.mit.edu 37 5 74041590 74041590 + Silent SNP T T C TCGA-02-0047-01A-01D-1490-08 TCGA-02-0047-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce03026e-b756-43a2-972d-b3a4dcda5491 12cccbae-0ffc-43ee-8aa5-7ec47611b497 g.chr5:74041590T>C uc010izj.1 - 10 1184 c.858A>G c.(856-858)aaA>aaG p.K286K GFM2_uc003kdh.1_Silent_p.K254K|GFM2_uc003kdi.1_Silent_p.K254K|GFM2_uc010izk.1_Non-coding_Transcript|GFM2_uc003kdj.1_Silent_p.K254K|GFM2_uc010izl.1_Silent_p.K212K NM_032380 NP_115756 Q969S9 RRF2M_HUMAN Homo sapiens G elongation factor, mitochondrial 2 (GFM2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 254 mitochondrial translation|ribosome disassembly mitochondrion GTP binding|GTPase activity breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1) 14 all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231) OV - Ovarian serous cystadenocarcinoma(47;1.86e-56) TCTCAAAGTCTTTTCCATCAT 0.358 PCDHGC5 9708 broad.mit.edu 37 5 140774103 140774103 + Missense_Mutation SNP G G A TCGA-02-0047-01A-01D-1490-08 TCGA-02-0047-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce03026e-b756-43a2-972d-b3a4dcda5491 12cccbae-0ffc-43ee-8aa5-7ec47611b497 g.chr5:140774103G>A uc003lkd.2 + 0 2621 c.1723G>A c.(1723-1725)Gtg>Atg p.V575M PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_Missense_Mutation_p.V575M|PCDHGC5_uc003lkc.2_Intron NM_032088 NP_114477 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 8 (PCDHGA8), transcript variant 1, mRNA. 577 Cadherin 6. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTCCACTGGCGTGGAGCTGGC 0.657 ADAMTS2 9509 broad.mit.edu 37 5 178556976 178556976 + Missense_Mutation SNP G G A TCGA-02-0047-01A-01D-1490-08 TCGA-02-0047-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce03026e-b756-43a2-972d-b3a4dcda5491 12cccbae-0ffc-43ee-8aa5-7ec47611b497 g.chr5:178556976G>A uc003mjw.3 - 15 2516 c.2414C>T c.(2413-2415)aCg>aTg p.T805M NM_014244 NP_055059 O95450 ATS2_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA. 805 Spacer. collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7) 72 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) GGTCTGCAGCGTCTCCCGGCC 0.607 ADAMTS2 9509 broad.mit.edu 37 5 178585775 178585775 + Missense_Mutation SNP C C T TCGA-02-0047-01A-01D-1490-08 TCGA-02-0047-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce03026e-b756-43a2-972d-b3a4dcda5491 12cccbae-0ffc-43ee-8aa5-7ec47611b497 g.chr5:178585775C>T uc003mjw.3 - 5 1183 c.1081G>A c.(1081-1083)Gat>Aat p.D361N ADAMTS2_uc011dgm.2_Missense_Mutation_p.D361N NM_014244 NP_055059 O95450 ATS2_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA. 361 Peptidase M12B. collagen catabolic process proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7) 72 all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326) all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GBM - Glioblastoma multiforme(465;0.0473) ATGGCGTGATCGTGGTATTCA 0.607 TREML2 79865 broad.mit.edu 37 6 41162491 41162491 + Missense_Mutation SNP G G A TCGA-02-0047-01A-01D-1490-08 TCGA-02-0047-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce03026e-b756-43a2-972d-b3a4dcda5491 12cccbae-0ffc-43ee-8aa5-7ec47611b497 g.chr6:41162491G>A uc010jxm.1 - 2 636 c.457C>T c.(457-459)Cct>Tct p.P153S NM_024807 NP_079083 Q5T2D2 TRML2_HUMAN Homo sapiens triggering receptor expressed on myeloid cells-like 2 (TREML2), mRNA. 153 T cell activation cell surface|integral to membrane|plasma membrane protein binding|receptor activity breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1) 18 Ovarian(28;0.0418)|Colorectal(47;0.196) CCTGAGGTAGGGGCTTGGCCA 0.542 DEFB110 245913 broad.mit.edu 37 6 49976918 49976918 + Missense_Mutation SNP G G T TCGA-02-0047-01A-01D-1490-08 TCGA-02-0047-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce03026e-b756-43a2-972d-b3a4dcda5491 12cccbae-0ffc-43ee-8aa5-7ec47611b497 g.chr6:49976918G>T uc011dwr.2 - 1 168 c.122C>A c.(121-123)aCg>aAg p.T41K NM_001037728 NP_001032817 Q30KQ9 DB110_HUMAN Homo sapiens defensin, beta 110 locus (DEFB110), transcript variant 2, mRNA. 44 defense response to bacterium extracellular region endometrium(1)|lung(1)|ovary(1) 3 Lung NSC(77;0.042) ATCACAAAACGTTTTACATAT 0.333 FAM83B 222584 broad.mit.edu 37 6 54791195 54791195 + Silent SNP T T C TCGA-02-0047-01A-01D-1490-08 TCGA-02-0047-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce03026e-b756-43a2-972d-b3a4dcda5491 12cccbae-0ffc-43ee-8aa5-7ec47611b497 g.chr6:54791195T>C uc003pck.3 + 2 587 c.471T>C c.(469-471)ttT>ttC p.F157F NM_001010872 NP_001010872 Q5T0W9 FA83B_HUMAN Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA. 157 autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) TGGATATATTTACAGATGTGG 0.299 LAMA2 3908 broad.mit.edu 37 6 129371087 129371087 + Missense_Mutation SNP T T A TCGA-02-0047-01A-01D-1490-08 TCGA-02-0047-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce03026e-b756-43a2-972d-b3a4dcda5491 12cccbae-0ffc-43ee-8aa5-7ec47611b497 g.chr6:129371087T>A uc021zfb.1 + 1 242 c.137T>A c.(136-138)cTt>cAt p.L46H LAMA2_uc003qbn.3_Missense_Mutation_p.L46H|LAMA2_uc003qbo.3_Missense_Mutation_p.L46H NM_000426 NP_000417 P24043 LAMA2_HUMAN Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA. 46 Laminin N-terminal. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) GTCCTGAATCTTGCTTCTAAT 0.403 SASH1 23328 broad.mit.edu 37 6 148865365 148865365 + Missense_Mutation SNP G G A rs145411864 TCGA-02-0047-01A-01D-1490-08 TCGA-02-0047-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce03026e-b756-43a2-972d-b3a4dcda5491 12cccbae-0ffc-43ee-8aa5-7ec47611b497 g.chr6:148865365G>A uc003qme.1 + 17 3234 c.2759G>A c.(2758-2760)cGc>cAc p.R920H SASH1_uc011eeb.1_Missense_Mutation_p.R681H|SASH1_uc003qmf.1_Missense_Mutation_p.R330H NM_015278 NP_056093 O94885 SASH1_HUMAN Homo sapiens SAM and SH3 domain containing 1 (SASH1), mRNA. 920 protein binding breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Ovarian(120;0.0169) OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701) GCCTCTGGTCGCGGCCTGTCA 0.517 PLEKHG1 57480 broad.mit.edu 37 6 151152163 151152163 + Missense_Mutation SNP G G A TCGA-02-0047-01A-01D-1490-08 TCGA-02-0047-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce03026e-b756-43a2-972d-b3a4dcda5491 12cccbae-0ffc-43ee-8aa5-7ec47611b497 g.chr6:151152163G>A uc011eem.1 + 14 2181 c.2093G>A c.(2092-2094)gGg>gAg p.G698E PLEKHG1_uc011eel.1_Missense_Mutation_p.G679E|PLEKHG1_uc003qny.1_Missense_Mutation_p.G639E|PLEKHG1_uc003qnz.2_Missense_Mutation_p.G639E NM_001029884 NP_001025055 Q9ULL1 PKHG1_HUMAN Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 1 (PLEKHG1), mRNA. 639 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3) 53 BRCA - Breast invasive adenocarcinoma(37;0.0923) OV - Ovarian serous cystadenocarcinoma(155;6.69e-13) AAAACAGAAGGGCAGGAGGAG 0.478 PLG 5340 broad.mit.edu 37 6 161173177 161173177 + Missense_Mutation SNP C C T TCGA-02-0047-01A-01D-1490-08 TCGA-02-0047-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce03026e-b756-43a2-972d-b3a4dcda5491 12cccbae-0ffc-43ee-8aa5-7ec47611b497 g.chr6:161173177C>T uc003qtm.4 + 17 2268 c.2156C>T c.(2155-2157)gCc>gTc p.A719V NM_000301 NP_000292 P00747 PLMN_HUMAN Homo sapiens plasminogen (PLG), transcript variant 1, mRNA. 719 Peptidase S1. extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen apolipoprotein binding|cell surface binding|serine-type endopeptidase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1) 59 OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06) Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013) CTCAAGGAAGCCCAGCTCCCT 0.468 GAL3ST4 79690 broad.mit.edu 37 7 99758263 99758263 + Missense_Mutation SNP C C T TCGA-02-0047-01A-01D-1490-08 TCGA-02-0047-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce03026e-b756-43a2-972d-b3a4dcda5491 12cccbae-0ffc-43ee-8aa5-7ec47611b497 g.chr7:99758263C>T uc003utt.3 - 2 1766 c.749G>A c.(748-750)cGa>cAa p.R250Q C7orf43_uc011kjj.2_5'Flank|C7orf43_uc003utr.3_5'Flank|C7orf43_uc003uts.3_5'Flank|GAL3ST4_uc022aii.1_Missense_Mutation_p.R188Q|GAL3ST4_uc003utu.3_Missense_Mutation_p.R250Q NM_024637 NP_078913 Q96RP7 G3ST4_HUMAN Homo sapiens galactose-3-O-sulfotransferase 4 (GAL3ST4), mRNA. 250 cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi cisterna membrane|integral to membrane|membrane fraction 3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1) 26 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GGTTTGGGCTCGAGGGCCAGC 0.567 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-02-0047-01A-01D-1490-08 TCGA-02-0047-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce03026e-b756-43a2-972d-b3a4dcda5491 12cccbae-0ffc-43ee-8aa5-7ec47611b497 g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome FAM86B2 653333 broad.mit.edu 37 8 12286307 12286307 + Missense_Mutation SNP T T C rs148161726 TCGA-02-0047-01A-01D-1490-08 TCGA-02-0047-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce03026e-b756-43a2-972d-b3a4dcda5491 12cccbae-0ffc-43ee-8aa5-7ec47611b497 g.chr8:12286307T>C uc003wvt.4 - 5 577 c.577A>G c.(577-579)Atc>Gtc p.I193V LOC100506990_uc011kxp.1_Intron|FAM86B2_uc003wvq.4_Intron|FAM86B2_uc003wvr.4_Missense_Mutation_p.I16V|FAM86B2_uc010lsn.3_Intron|FAM86B2_uc003wvu.4_Intron|FAM86B2_uc010lso.3_Intron|FAM86B2_uc011kxt.2_Intron|FAM86B2_uc010lsl.3_Intron|FAM86B2_uc011kxu.2_Intron NM_001137610 NP_001131082 P0C5J1 F86B2_HUMAN Homo sapiens family with sequence similarity 86, member B2 (FAM86B2), mRNA. 193 endometrium(1)|kidney(2) 3 TGCTCGAGGATCCGGCTGTGA 0.602 ASAH1 427 broad.mit.edu 37 8 17916969 17916969 + Missense_Mutation SNP C C T TCGA-02-0047-01A-01D-1490-08 TCGA-02-0047-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce03026e-b756-43a2-972d-b3a4dcda5491 12cccbae-0ffc-43ee-8aa5-7ec47611b497 g.chr8:17916969C>T uc003wyn.2 - 11 1167 c.970G>A c.(970-972)Gat>Aat p.D324N ASAH1_uc003wyl.2_Missense_Mutation_p.D308N|ASAH1_uc003wym.2_Missense_Mutation_p.D283N|ASAH1_uc003wyo.2_Missense_Mutation_p.D302N NM_004315 NP_004306 Q13510 ASAH1_HUMAN Homo sapiens N-acylsphingosine amidohydrolase (acid ceramidase) 1 (ASAH1), transcript variant 2, mRNA. 308 ceramide metabolic process lysosome ceramidase activity breast(1)|endometrium(2)|large_intestine(4)|lung(2) 9 Colorectal(111;0.0646)|COAD - Colon adenocarcinoma(73;0.228) TGCTTAGCATCGAGTCTAGAT 0.398 DNAJC5B 85479 broad.mit.edu 37 8 66963845 66963845 + Silent SNP C C T TCGA-02-0047-01A-01D-1490-08 TCGA-02-0047-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce03026e-b756-43a2-972d-b3a4dcda5491 12cccbae-0ffc-43ee-8aa5-7ec47611b497 g.chr8:66963845C>T uc003xvs.1 + 2 354 c.63C>T c.(61-63)taC>taT p.Y21Y DNAJC5B_uc003xvt.1_Non-coding_Transcript NM_033105 NP_149096 Q9UF47 DNJ5B_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 5 beta (DNAJC5B), mRNA. 21 J. protein folding membrane heat shock protein binding|unfolded protein binding endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3) 20 Lung NSC(129;0.114)|all_lung(136;0.188) Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112) AAGCTCTATACGAAATTCTTG 0.398 RNF19A 25897 broad.mit.edu 37 8 101273881 101273881 + Missense_Mutation SNP C C T TCGA-02-0047-01A-01D-1490-08 TCGA-02-0047-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce03026e-b756-43a2-972d-b3a4dcda5491 12cccbae-0ffc-43ee-8aa5-7ec47611b497 g.chr8:101273881C>T uc003yjj.1 - 8 1888 c.1571G>A c.(1570-1572)cGa>cAa p.R524Q RNF19A_uc003yjk.1_Missense_Mutation_p.R524Q NM_015435 NP_904355 Q9NV58 RN19A_HUMAN Homo sapiens ring finger protein 19A (RNF19A), transcript variant 2, mRNA. 524 microtubule cytoskeleton organization|protein modification process centrosome|integral to membrane ligase activity|transcription factor binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 30 all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166) Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525) GGCTCCTATTCGATCCATGTG 0.532 USP9X 8239 broad.mit.edu 37 X 41075440 41075440 + Nonsense_Mutation SNP C C T TCGA-02-0047-01A-01D-1490-08 TCGA-02-0047-10A-01D-1490-08 Untested Somatic Phase_I WXS none Illumina GAIIx ce03026e-b756-43a2-972d-b3a4dcda5491 12cccbae-0ffc-43ee-8aa5-7ec47611b497 g.chrX:41075440C>T uc004dfb.3 + 34 6253 c.5620C>T c.(5620-5622)Caa>Taa p.Q1874* USP9X_uc004dfc.3_Nonsense_Mutation_p.Q1874* NM_001039590 NP_001034679 Q93008 USP9X_HUMAN Homo sapiens ubiquitin specific peptidase 9, X-linked (USP9X), transcript variant 3, mRNA. 1874 BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process cytoplasm co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 ACACAGTGGTCAAGCGAGTGG 0.443