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 validation_method t_ref_count validation_status validation_tumor_sample t_alt_count validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut TRPC6 7225 broad.mit.edu 37 11 101325831 101325831 + Splice_Site SNP A G G TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr11:101325831A>G uc001pgk.4 - 11 2910 c.2485_splice c.e11-1 p.V829_splice TRPC6_uc009ywy.3_Splice_Site_p.V713_splice|TRPC6_uc009ywz.1_Splice_Site_p.V774_splice NM_004621 NP_004612 Q9Y210 TRPC6_HUMAN Homo sapiens transient receptor potential cation channel, subfamily C, member 6 (TRPC6), mRNA. 829 axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity integral to membrane|plasma membrane protein binding autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162) BRCA - Breast invasive adenocarcinoma(274;0.0442) ATTGTGCCCAACCTGTAATTT 0.294000 5 16 0 0 1 0 0 HNRNPUL2 221092 broad.mit.edu 37 11 62483029 62483030 + Missense_Mutation DNP GT AA AA TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr11:62483029_62483030GT>AA uc001nuw.3 - 12 2334_2335 c.2105_2106AC>TT c.(2104-2106)tac>tTT p.Y702F HNRNPUL2_uc001nuu.2_Non-coding_Transcript NM_001079559 NP_001073027 Q1KMD3 HNRL2_HUMAN Homo sapiens heterogeneous nuclear ribonucleoprotein U-like 2 (HNRNPUL2), mRNA. 702 Tyr-rich. cell killing nucleus ATP binding|nucleic acid binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 AATCTCGCCCGTAAAATCGATC 0.431000 38 16 0 0 1 0 0 PGR 5241 broad.mit.edu 37 11 100999688 100999688 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr11:100999688C>T uc001pgh.2 - 0 857 c.114G>A c.(112-114)ggG>ggA p.G38G PGR_uc001pgi.2_Silent_p.G38G|PGR_uc009yww.1_Non-coding_Transcript|PGR_uc001pgj.2_Non-coding_Transcript|PGR_uc009ywx.1_Non-coding_Transcript|FJ515873_uc010rum.2_5'Flank NM_000926 NP_000917 P06401 PRGR_HUMAN Homo sapiens progesterone receptor (PGR), transcript variant 2, mRNA. 38 Modulating, Pro-Rich. cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 36 Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014) LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164) Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396) AGGTCTGGCTCCCCGGGAACG 0.706000 8 18 0 0 1 0 0 NOTCH4 4855 broad.mit.edu 37 6 32180277 32180277 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr6:32180277G>A uc003obb.3 - 16 2793 c.2654C>T c.(2653-2655)tCc>tTc p.S885F NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript NM_004557 NP_004548 Q99466 NOTC4_HUMAN Homo sapiens notch 4 (NOTCH4), mRNA. 885 EGF-like 23. Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 CTTCTGGCAGGAGGACAGTGG 0.602000 133 51 0 0 1 0 0 EML1 2009 broad.mit.edu 37 14 100331934 100331935 + Missense_Mutation DNP CC TT TT TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr14:100331934_100331935CC>TT uc001ygr.3 + 2 403_404 c.334_335CC>TT c.(334-336)cca>TTa p.P112L EML1_uc010avt.1_Missense_Mutation_p.P99L|EML1_uc010tww.2_Missense_Mutation_p.P81L|EML1_uc001ygq.3_Missense_Mutation_p.P112L|EML1_uc001ygs.3_Missense_Mutation_p.P112L NM_001008707 NP_001008707 O00423 EMAL1_HUMAN Homo sapiens echinoderm microtubule associated protein like 1 (EML1), transcript variant 1, mRNA. 112 cytoplasm|microtubule|microtubule associated complex calcium ion binding|protein binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Melanoma(154;0.0879)|all_epithelial(191;0.216) TGGCTCTCTACCATCCCCCTCC 0.495000 36 8 0 0 1 0 0 JAG1 182 broad.mit.edu 37 20 10630945 10630945 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr20:10630945C>T uc002wnw.2 - 8 1700 c.1184G>A c.(1183-1185)gGa>gAa p.G395E JAG1_uc010gcd.1_5'UTR NM_000214 NP_000205 P78504 JAG1_HUMAN Homo sapiens jagged 1 (JAG1), mRNA. 395 EGF-like 5; calcium-binding (Potential). Notch receptor processing|Notch signaling pathway|angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|regulation of cell migration|regulation of cell proliferation extracellular region|integral to plasma membrane Notch binding|calcium ion binding|growth factor activity|structural molecule activity biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1) 44 ACACTTAAATCCGTTAACCAG 0.463000 Alagille Syndrome 24 17 0 0 1 0 0 C9orf71 169693 broad.mit.edu 37 9 71155629 71155629 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr9:71155629G>A uc004agt.3 - 0 155 c.102C>T c.(100-102)ttC>ttT p.F34F NM_153237 NP_694969 Q8N6L7 CI071_HUMAN Homo sapiens chromosome 9 open reading frame 71 (C9orf71), mRNA. 34 integral to membrane endometrium(1)|lung(2)|prostate(1) 4 CCTGACAGTCGAATATGGAGC 0.537000 22 9 0 0 1 0 0 BCL9 607 broad.mit.edu 37 1 147091084 147091084 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:147091084C>T uc001epq.3 + 7 1863 c.1123C>T c.(1123-1125)Cct>Tct p.P375S BCL9_uc010ozr.1_Missense_Mutation_p.P301S NM_004326 NP_004317 O00512 BCL9_HUMAN Homo sapiens B-cell CLL/lymphoma 9 (BCL9), mRNA. 375 CTNNB1-binding.|Pro-rich. Wnt receptor signaling pathway nucleus protein binding p.P375S(1) breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 7 all_hematologic(923;0.115) CATGCTTTTTCCTGATGAGAA 0.537000 T """IGH@, IGL@""" B-ALL 177 85 0 0 1 0 0 CD28 940 broad.mit.edu 37 2 204599511 204599511 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr2:204599511G>A uc002vah.4 + 3 761 c.539G>A c.(538-540)aGg>aAg p.R180K CD28_uc010zio.2_Missense_Mutation_p.R83K|CD28_uc010ftx.3_Missense_Mutation_p.R61K|CD28_uc002vaj.4_Non-coding_Transcript NM_006139 NP_006130 P10747 CD28_HUMAN Homo sapiens CD28 molecule (CD28), transcript variant 1, mRNA. 180 T cell costimulation|cell surface receptor linked signaling pathway|cytokine biosynthetic process|humoral immune response|positive regulation of anti-apoptosis|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation of translation|positive regulation of viral genome replication|regulation of defense response to virus by virus|regulatory T cell differentiation|viral reproduction cytosol|external side of plasma membrane|integral to plasma membrane SH3/SH2 adaptor activity|coreceptor activity|protease binding endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 13 CTGCAGGTGAGGAGTAAGAGG 0.527000 45 39 0 0 1 0 0 TOX2 84969 broad.mit.edu 37 20 42680018 42680018 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr20:42680018G>A uc010ggo.3 + 3 524 c.484G>A c.(484-486)Gca>Aca p.A162T TOX2_uc002xle.4_Missense_Mutation_p.A120T|TOX2_uc010ggp.3_Missense_Mutation_p.A120T|TOX2_uc002xlf.4_Missense_Mutation_p.A171T|TOX2_uc010zwk.2_Missense_Mutation_p.A40T NM_001098797 NP_116272 Q96NM4 TOX2_HUMAN Homo sapiens TOX high mobility group box family member 2 (TOX2), transcript variant 1, mRNA. 171 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2) 26 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.00189) GGGTCGCCCGGCAATGCTGGC 0.662000 35 35 0 0 1 0 0 C11orf54 28970 broad.mit.edu 37 11 93492939 93492939 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr11:93492939C>T uc001peh.3 + 7 883 c.689C>T c.(688-690)tCt>tTt p.S230F C11orf54_uc001pef.3_Missense_Mutation_p.S180F|C11orf54_uc009ywi.3_Missense_Mutation_p.S230F|C11orf54_uc001peg.3_Missense_Mutation_p.S230F|C11orf54_uc001pei.3_Missense_Mutation_p.S211F|C11orf54_uc001pej.3_Missense_Mutation_p.S211F|C11orf54_uc001pek.3_Missense_Mutation_p.S119F NM_014039 NP_054758 Q9H0W9 CK054_HUMAN Homo sapiens chromosome 11 open reading frame 54 (C11orf54), mRNA. 230 nucleus hydrolase activity, acting on ester bonds|protein binding|zinc ion binding NS(1)|endometrium(1)|large_intestine(1)|lung(5) 8 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) CCCTTGAACTCTGATGAAGAA 0.328000 22 57 0 0 1 0 0 OR2AT4 341152 broad.mit.edu 37 11 74800540 74800540 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr11:74800540G>A uc010rro.2 - 0 219 c.219C>T c.(217-219)acC>acT p.T73T NM_001005285 NP_001005285 A6NND4 O2AT4_HUMAN Homo sapiens olfactory receptor, family 2, subfamily AT, member 4 (OR2AT4), mRNA. 73 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2) 12 GGATGTCCAAGGTGGAGAGAT 0.522000 16 38 0 0 1 0 0 SETBP1 26040 broad.mit.edu 37 18 42531897 42531897 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr18:42531897G>A uc010dni.3 + 3 2888 c.2592G>A c.(2590-2592)acG>acA p.T864T NM_015559 NP_056374 Q9Y6X0 SETBP_HUMAN Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA. 864 nucleus DNA binding NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 104 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) GTGAGGAGACGATCCCCAGCG 0.552000 Schinzel-Giedion syndrome 15 13 0 0 1 0 0 TRIM58 25893 broad.mit.edu 37 1 248039459 248039459 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:248039459C>T uc001ido.3 + 5 1177 c.1129C>T c.(1129-1131)Cct>Tct p.P377S OR2W3_uc001idp.1_Intron NM_015431 NP_056246 Q8NG06 TRI58_HUMAN Homo sapiens tripartite motif containing 58 (TRIM58), mRNA. 377 B30.2/SPRY. intracellular zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1) 63 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0286) OV - Ovarian serous cystadenocarcinoma(106;0.0319) CACGCCATCTCCTGAGAATGG 0.567000 106 77 0 0 1 0 0 LRP1 4035 broad.mit.edu 37 12 57598417 57598417 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr12:57598417C>T uc001snd.3 + 71 11545 c.11079C>T c.(11077-11079)ttC>ttT p.F3693F NM_002332 NP_002323 Q07954 LRP1_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA. 3693 LDL-receptor class A 30. aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) CAGCCCGGTTCGTGTGCCCTC 0.642000 162 27 0 0 1 0 0 GRM3 2913 broad.mit.edu 37 7 86394322 86394322 + Splice_Site SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr7:86394322G>A uc003uid.3 + 2 960 c.-139_splice c.e2-1 GRM3_uc010lef.3_Splice_Site|GRM3_uc010leg.3_Intron|GRM3_uc010leh.3_Intron NM_000840 NP_000831 Q14832 GRM3_HUMAN Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA. synaptic transmission integral to plasma membrane NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) ATCTCTTTAGGAATTTTGTGA 0.388000 14 5 0 0 1 0 0 FLT4 2324 broad.mit.edu 37 5 180053029 180053029 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr5:180053029G>A uc003mlz.4 - 9 1340 c.1261C>T c.(1261-1263)Ccc>Tcc p.P421S FLT4_uc003mma.4_Missense_Mutation_p.P421S|FLT4_uc003mmb.1_5'UTR|FLT4_uc011dgy.2_Missense_Mutation_p.P421S NM_182925 NP_891555 P35916 VGFR3_HUMAN Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA. 421 positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) ATCTGGGGGGGCACTGTGGGC 0.677000 73 45 0 0 1 0 0 ERC2 26059 broad.mit.edu 37 3 56468998 56468998 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr3:56468998C>T uc021wzo.1 - 0 178 c.38G>A c.(37-39)gGt>gAt p.G13D ERC2_uc003dhr.1_Missense_Mutation_p.G13D NM_015576 NP_056391 O15083 ERC2_HUMAN Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA. 13 cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome protein binding breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1) 31 KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219) GGAAGGGCTACCTTCCAGATT 0.463000 22 8 0 0 1 0 0 FAM188B 84182 broad.mit.edu 37 7 30821653 30821653 + Missense_Mutation SNP T G G TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr7:30821653T>G uc003tbt.3 + 2 321 c.244T>G c.(244-246)Ttt>Gtt p.F82V FAM188B_uc010kwe.3_Missense_Mutation_p.F53V NM_032222 NP_115598 Q4G0A6 F188B_HUMAN Homo sapiens family with sequence similarity 188, member B (FAM188B), mRNA. 82 endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 TCTGGATCACTTTGGAAATAC 0.368000 46 35 0 0 1 0 0 TAF7L 54457 broad.mit.edu 37 X 100531342 100531342 + Missense_Mutation SNP A T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chrX:100531342A>T uc004ehb.3 - 9 1150 c.1124T>A c.(1123-1125)tTt>tAt p.F375Y TAF7L_uc004eha.3_Intron|TAF7L_uc004ehc.2_Missense_Mutation_p.F289Y NM_024885 NP_001161946 Q5H9L4 TAF7L_HUMAN Homo sapiens TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa (TAF7L), transcript variant 1, mRNA. 375 Glu-rich. cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter cytoplasm|transcription factor TFIID complex binding p.E374K(1) NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 29 AGATTCAATAAACTCGGCCTG 0.468000 11 90 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10428305 10428305 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr17:10428305C>T uc010coi.3 - 33 4868 c.4740G>A c.(4738-4740)agG>agA p.R1580R AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.R1580R|MYH2_uc010coj.3_Intron NM_001100112 NP_060004 Q9UKX2 MYH2_HUMAN Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA. 1580 muscle filament sliding muscle myosin complex|myosin filament|sarcomere ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.D1579H(1) NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 CAGCAATTTTCCTATCAACCT 0.453000 77 84 0 0 1 0 0 SPHKAP 80309 broad.mit.edu 37 2 228884716 228884716 + Missense_Mutation SNP C T T rs145402025 TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr2:228884716C>T uc002vpq.2 - 6 901 c.854G>A c.(853-855)cGa>cAa p.R285Q SPHKAP_uc002vpp.2_Missense_Mutation_p.R285Q|SPHKAP_uc010zlx.1_Missense_Mutation_p.R285Q NM_001142644 NP_001136116 Q2M3C7 SPKAP_HUMAN Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA. 285 cytoplasm protein binding NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 185 Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23) Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232) TTCTGGAGATCGTTCTGTTTT 0.443000 134 40 0 0 1 0 0 MBP 4155 broad.mit.edu 37 18 74701951 74701951 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr18:74701951G>A uc010xfd.2 - 4 906 c.243C>T c.(241-243)acC>acT p.T81T MBP_uc002lml.3_Silent_p.T107T|MBP_uc002lmn.3_Silent_p.T107T|MBP_uc002lmp.3_Silent_p.T81T|MBP_uc010xfe.1_Silent_p.T81T|MBP_uc010dqz.3_5'Flank NM_001025101 NP_001020272 P02686 MBP_HUMAN Homo sapiens myelin basic protein (MBP), transcript variant 7, mRNA. 214 central nervous system development|immune response|synaptic transmission plasma membrane structural constituent of myelin sheath endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 19 Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211) OV - Ovarian serous cystadenocarcinoma(15;1.79e-06)|BRCA - Breast invasive adenocarcinoma(31;0.113)|READ - Rectum adenocarcinoma(1;0.188) TTTCATCTTGGGTCCGGCCGT 0.572000 40 27 0 0 1 0 0 PIK3C2A 5286 broad.mit.edu 37 11 17141516 17141516 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr11:17141516G>A uc001mmq.4 - 14 2728 c.2663C>T c.(2662-2664)tCt>tTt p.S888F PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.2_Missense_Mutation_p.S508F|PIK3C2A_uc001mmr.3_Intron NM_002645 NP_002636 O00443 P3C2A_HUMAN Homo sapiens phosphoinositide-3-kinase, class 2, alpha polypeptide (PIK3C2A), mRNA. 888 cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling Golgi apparatus|clathrin-coated vesicle|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Phosphatidylserine(DB00144) ATCTTCTTTAGAAAGTCTGCA 0.284000 13 11 0 0 1 0 0 NLRP9 338321 broad.mit.edu 37 19 56244370 56244370 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr19:56244370C>T uc002qly.3 - 1 855 c.827G>A c.(826-828)gGa>gAa p.G276E NM_176820 NP_789790 Q7RTR0 NALP9_HUMAN Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA. 276 NACHT. cytoplasm ATP binding NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3) 74 Colorectal(82;0.000133)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.123) AGCCAGTTTTCCTAATGCAAT 0.408000 53 18 0 0 1 0 0 VAV1 7409 broad.mit.edu 37 19 6825340 6825340 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr19:6825340C>T uc002mfu.1 + 7 847 c.750C>T c.(748-750)ttC>ttT p.F250F VAV1_uc010xjh.1_Silent_p.F218F|VAV1_uc010dva.1_Silent_p.F250F|VAV1_uc002mfv.1_Silent_p.F195F NM_005428 NP_005419 P15498 VAV_HUMAN Homo sapiens vav 1 guanine nucleotide exchange factor (VAV1), mRNA. 250 DH. T cell costimulation|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 62 ATACTCACTTCCTAAAGGAGA 0.587000 48 7 0 0 1 0 0 NBPF7 343505 broad.mit.edu 37 1 120387057 120387057 + Missense_Mutation SNP C G G rs140448413 TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:120387057C>G uc010oxk.2 - 0 723 c.102G>C c.(100-102)gaG>gaC p.E34D NM_001047980 NP_001041445 P0C2Y1 NBPF7_HUMAN Homo sapiens neuroblastoma breakpoint family, member 7 (NBPF7), mRNA. 34 cytoplasm p.E34E(2) breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|skin(2) 24 all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234) all_lung(203;3.66e-05)|Lung NSC(69;0.000192)|all_epithelial(167;0.0347) Lung(183;0.0103)|LUSC - Lung squamous cell carcinoma(189;0.0544) GAATGTTCATCTCTGCTTTCT 0.483000 OREG0013730 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 114 63 0 0 1 0 0 HEATR5A 25938 broad.mit.edu 37 14 31855777 31855777 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr14:31855777G>A uc001wrf.4 - 8 1379 c.1194C>T c.(1192-1194)gcC>gcT p.A398A HEATR5A_uc010ami.3_Silent_p.A3A|HEATR5A_uc001wrg.1_Intron|HEATR5A_uc010tpk.1_Silent_p.A398A NM_015473 NP_056288 Q86XA9 HTR5A_HUMAN Homo sapiens HEAT repeat containing 5A (HEATR5A), mRNA. 392 binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1) 26 Hepatocellular(127;0.0877)|Breast(36;0.137) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.0059) CACTCATTACGGCATCTGATA 0.373000 68 48 0 0 1 0 0 NDUFS3 4722 broad.mit.edu 37 11 47593296 47593296 + Splice_Site SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr11:47593296G>A uc001nft.3 + 3 721 c.-142_splice c.e3+1 PTPMT1_uc001nfs.4_3'UTR|PTPMT1_uc001nfv.4_3'UTR|PTPMT1_uc009ylt.3_3'UTR|PTPMT1_uc001nfu.4_3'UTR O75489 NDUS3_HUMAN Homo sapiens NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase) (NDUFS3), nuclear gene encoding mitochondrial protein, mRNA. induction of apoptosis|mitochondrial electron transport, NADH to ubiquinone|negative regulation of cell growth|reactive oxygen species metabolic process|transport mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity|electron carrier activity|protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2) 9 NADH(DB00157) GTGCCAATAGGTAATAGGTAA 0.383000 12 21 0 0 1 0 0 RAB40A 142684 broad.mit.edu 37 X 102755029 102755029 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chrX:102755029C>T uc022cbs.1 - 0 656 c.656G>A c.(655-657)aGa>aAa p.R219K RAB40A_uc004ekk.3_Missense_Mutation_p.R219K NM_080879 NP_543155 Q8WXH6 RB40A_HUMAN Homo sapiens RAB40A, member RAS oncogene family (RAB40A), mRNA. 219 SOCS box. protein transport|small GTPase mediated signal transduction plasma membrane GTP binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1) 12 GAGGTGGCTTCTTAAGGTACT 0.587000 24 119 0 0 1 0 0 ZBED1 9189 broad.mit.edu 37 X 2407142 2407142 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chrX:2407142G>A uc022brx.1 - 0 1619 c.1619C>T c.(1618-1620)cCc>cTc p.P540L DHRSX_uc004cqf.4_Intron|ZBED1_uc004cqh.2_Missense_Mutation_p.P540L|ZBED1_uc004cqg.2_Missense_Mutation_p.P540L|ZBED1_uc022brw.1_Missense_Mutation_p.P540L NM_004729 NP_004720 O96006 ZBED1_HUMAN Homo sapiens zinc finger, BED-type containing 1 (ZBED1), transcript variant 2, mRNA. 540 nuclear chromosome DNA binding|metal ion binding|protein dimerization activity|transposase activity endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1) 25 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) GACGCTGGCGGGCGGCGGCGT 0.647000 26 46 0 0 1 0 0 SNX13 23161 broad.mit.edu 37 7 17874413 17874413 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr7:17874413G>A uc003stv.3 - 13 1648 c.1435C>T c.(1435-1437)Cct>Tct p.P479S SNX13_uc010kuc.3_Missense_Mutation_p.P276S|SNX13_uc003stw.1_Missense_Mutation_p.P479S NM_015132 NP_055947 Q9Y5W8 SNX13_HUMAN Homo sapiens sorting nexin 13 (SNX13), mRNA. 479 RGS. cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity early endosome membrane phosphatidylinositol binding|signal transducer activity breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 38 Lung NSC(10;0.0261)|all_lung(11;0.0521) AAGATTTCAGGGGTTGGATCT 0.279000 23 11 0 0 1 0 0 PTPN9 5780 broad.mit.edu 37 15 75801321 75801322 + Missense_Mutation DNP GG AA AA TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr15:75801321_75801322GG>AA uc002bal.3 - 5 1083_1084 c.575_576CC>TT c.(574-576)ccc>cTT p.P192L NM_002833 NP_002824 P43378 PTN9_HUMAN Homo sapiens protein tyrosine phosphatase, non-receptor type 9 (PTPN9), mRNA. 192 CRAL-TRIO. cytoplasmic part non-membrane spanning protein tyrosine phosphatase activity|protein binding central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 GGAACCATATGGGTGCCCCCAC 0.485000 28 8 0 0 1 0 0 MAN1A2 10905 broad.mit.edu 37 1 118008992 118008992 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:118008992C>T uc001ehd.1 + 7 1832 c.1111C>T c.(1111-1113)Cgt>Tgt p.R371C MAN1A2_uc009whg.1_Missense_Mutation_p.R161C NM_006699 NP_006690 O60476 MA1A2_HUMAN Homo sapiens mannosidase, alpha, class 1A, member 2 (MAN1A2), mRNA. 371 N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane|membrane fraction calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1) 27 Lung SC(450;0.225) all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05) Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243) GAAAATGGATCGTCCAAATGG 0.333000 19 19 0 0 1 0 0 PLSCR5 389158 broad.mit.edu 37 3 146307508 146307508 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr3:146307508C>T uc010hvc.3 - 5 1713 c.709G>A c.(709-711)Gga>Aga p.G237R PLSCR5_uc010hvb.3_Missense_Mutation_p.G225R NM_001085420 NP_001078889 A0PG75 PLS5_HUMAN Homo sapiens phospholipid scramblase family, member 5 (PLSCR5), mRNA. 237 endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|urinary_tract(1) 12 ACATGAATTCCGAAATTGTCA 0.373000 39 16 0 0 1 0 0 HGSNAT 138050 broad.mit.edu 37 8 43014090 43014090 + Silent SNP T C C TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr8:43014090T>C uc003xpx.4 + 3 444 c.396T>C c.(394-396)ttT>ttC p.F132F NM_152419 NP_689632 Q68CP4 HGNAT_HUMAN Homo sapiens heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT), mRNA. 160 lysosomal transport|protein oligomerization integral to membrane|lysosomal membrane heparan-alpha-glucosaminide N-acetyltransferase activity cervix(1)|endometrium(2)|large_intestine(4)|lung(6) 13 Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184) all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129) Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17) TTGGAGAATTTGGAAACTATT 0.358000 10 13 0 0 1 0 0 C5 727 broad.mit.edu 37 9 123779926 123779926 + Missense_Mutation SNP G A A rs147226792 TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr9:123779926G>A uc004bkv.3 - 12 1741 c.1711C>T c.(1711-1713)Ctc>Ttc p.L571F C5_uc010mvm.1_Missense_Mutation_p.L571F|C5_uc010mvn.1_Missense_Mutation_p.L571F NM_001735 NP_001726 P01031 CO5_HUMAN Homo sapiens complement component 5 (C5), mRNA. 571 G-protein coupled receptor protein signaling pathway|activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production extracellular space|membrane attack complex chemokine activity|endopeptidase inhibitor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242) Eculizumab(DB01257) CTTACCTGGAGCTGGTTGCCA 0.388000 28 11 0 0 1 0 0 OTOF 9381 broad.mit.edu 37 2 26687826 26687826 + Missense_Mutation SNP T C C TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr2:26687826T>C uc002rhk.3 - 38 4998 c.4871A>G c.(4870-4872)aAa>aGa p.K1624R OTOF_uc010yla.2_Missense_Mutation_p.K354R|OTOF_uc002rhh.3_Missense_Mutation_p.K857R|OTOF_uc002rhi.3_Missense_Mutation_p.K934R|OTOF_uc002rhj.3_Missense_Mutation_p.K857R NM_194248 NP_919224 Q9HC10 OTOF_HUMAN Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA. 1624 cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 106 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCCGTCCACTTTGCCGTCTTT 0.617000 63 3 0 0 1 0 0 PRIC285 85441 broad.mit.edu 37 20 62195261 62195261 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr20:62195261G>A uc002yfm.2 - 8 5806 c.4914C>T c.(4912-4914)ctC>ctT p.L1638L PRIC285_uc002yfl.1_Silent_p.L1069L NM_001037335 NP_001032412 Q9BYK8 PR285_HUMAN Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA. 1638 cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm ATP binding|DNA binding|RNA binding|helicase activity|ribonuclease activity|transcription coactivator activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2) 47 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06) GGGCCTTGCGGAGGTCGCGGC 0.682000 13 12 0 0 1 0 0 NR2E1 7101 broad.mit.edu 37 6 108499447 108499447 + Splice_Site SNP T A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr6:108499447T>A uc003psg.3 + 5 1397 c.642_splice c.e5+2 p.Q214_splice NM_003269 NP_003260 Q9Y466 NR2E1_HUMAN Homo sapiens nuclear receptor subfamily 2, group E, member 1 (NR2E1), mRNA. 214 Ligand-binding (By similarity). regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3) 30 all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637) BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689) CAAGACCAGGTATGACCACAC 0.517000 34 12 0 0 1 0 0 NFS1 9054 broad.mit.edu 37 20 34260690 34260690 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr20:34260690G>A uc002xdw.2 - 11 1374 c.1297C>T c.(1297-1299)Ctt>Ttt p.L433F CPNE1_uc002xdn.1_Non-coding_Transcript|CPNE1_uc002xdo.1_Non-coding_Transcript|CPNE1_uc002xdp.1_Non-coding_Transcript|NFS1_uc002xdt.2_Missense_Mutation_p.L373F|NFS1_uc010zvl.2_Missense_Mutation_p.L382F|NFS1_uc010zvk.2_Missense_Mutation_p.L231F NM_021100 NP_066923 Q9Y697 NFS1_HUMAN Homo sapiens NFS1 nitrogen fixation 1 homolog (S. cerevisiae) (NFS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 433 Mo-molybdopterin cofactor biosynthetic process|cysteine metabolic process|iron incorporation into metallo-sulfur cluster|protein complex assembly|water-soluble vitamin metabolic process cytosol|mitochondrial matrix|nucleus cysteine desulfurase activity|protein homodimerization activity|pyridoxal phosphate binding central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 18 Lung NSC(9;0.00608)|all_lung(11;0.00918) BRCA - Breast invasive adenocarcinoma(18;0.0886) L-Alanine(DB00160)|L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114) ATTTCTCGAAGACGCTTCACA 0.453000 24 12 0 0 1 0 0 KIAA1407 57577 broad.mit.edu 37 3 113699529 113699529 + Nonsense_Mutation SNP T A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr3:113699529T>A uc003eax.3 - 13 2422 c.2275A>T c.(2275-2277)Aga>Tga p.R759* KIAA1407_uc011bin.1_Non-coding_Transcript NM_020817 NP_065868 Q8NCU4 K1407_HUMAN Homo sapiens KIAA1407 (KIAA1407), mRNA. 759 endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1) 40 ATTCTCAATCTCTTCCAAGGC 0.423000 97 46 0 0 1 0 0 L3MBTL2 83746 broad.mit.edu 37 22 41616870 41616870 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr22:41616870G>A uc003azo.3 + 6 905 c.851G>A c.(850-852)cGg>cAg p.R284Q L3MBTL2_uc010gyi.1_Missense_Mutation_p.R193Q|L3MBTL2_uc003azn.3_Non-coding_Transcript NM_031488 NP_113676 Q969R5 LMBL2_HUMAN Homo sapiens l(3)mbt-like 2 (Drosophila) (L3MBTL2), mRNA. 284 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus methylated histone residue binding|transcription corepressor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 GTGCCCCCACGGAGTGAGTTG 0.537000 61 22 0 0 1 0 0 SALL1 6299 broad.mit.edu 37 16 51173284 51173284 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr16:51173284C>T uc021tif.1 - 1 2880 c.2558G>A c.(2557-2559)aGa>aAa p.R853K SALL1_uc021tid.1_Missense_Mutation_p.R853K|SALL1_uc021tie.1_Missense_Mutation_p.R950K|SALL1_uc010cbv.3_Intron NM_001127892 NP_001121364 Q9NSC2 SALL1_HUMAN Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA. 950 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus DNA binding|beta-catenin binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) TGGGACCGCTCTCTGTGGTTT 0.527000 23 25 0 0 1 0 0 FAM20C 56975 broad.mit.edu 37 7 208951 208952 + Missense_Mutation DNP GG AA AA TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr7:208951_208952GG>AA uc003sip.3 + 2 1069_1070 c.838_839GG>AA c.(838-840)ggg>AAg p.G280K NM_020223 NP_064608 Q8IXL6 DMP4_HUMAN Homo sapiens family with sequence similarity 20, member C (FAM20C), mRNA. 280 MTFQNYGQALFKPMK -> FLSDKPFLFLSCFLR (in Ref. 5; CAB99089). extracellular region endometrium(1)|lung(2)|urinary_tract(1) 4 Ovarian(82;0.0112) UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.57e-17)|Epithelial(4;1.26e-16)|all cancers(6;4.79e-14) CCAGAATTACGGGCAAGCGCTG 0.629000 6 4 0 0 1 0 0 FHOD3 80206 broad.mit.edu 37 18 34156470 34156470 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr18:34156470G>A uc021uiv.1 + 5 665 c.568G>A c.(568-570)Gaa>Aaa p.E190K FHOD3_uc002kzr.1_Missense_Mutation_p.E190K|FHOD3_uc002kzs.1_Missense_Mutation_p.E190K|FHOD3_uc002kzt.1_Missense_Mutation_p.E190K|FHOD3_uc002kzu.1_Missense_Mutation_p.E15K NM_025135 NP_079411 Q2V2M9 FHOD3_HUMAN Homo sapiens formin homology 2 domain containing 3 (FHOD3), mRNA. 190 GBD/FH3. actin cytoskeleton organization cytoplasm|cytoskeleton actin binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 90 all_epithelial(2;0.0181)|Colorectal(2;0.0195) AAACCGCAATGAAACCATTCA 0.378000 36 14 0 0 1 0 0 LAMC3 10319 broad.mit.edu 37 9 133948706 133948706 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr9:133948706G>A uc004caa.1 + 19 3590 c.3492G>A c.(3490-3492)agG>agA p.R1164R NM_006059 NP_006050 Q9Y6N6 LAMC3_HUMAN Homo sapiens laminin, gamma 3 (LAMC3), mRNA. 1164 Domain II and I. cell adhesion basement membrane|membrane structural molecule activity endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 69 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551) CCCTCGCCAGGAGGTGAGTCC 0.607000 35 12 0 0 1 0 0 DRG2 1819 broad.mit.edu 37 17 18007134 18007134 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr17:18007134C>T uc002gsh.1 + 9 881 c.826C>T c.(826-828)Ctg>Ttg p.L276L NM_001388 NP_001379 P55039 DRG2_HUMAN Homo sapiens developmentally regulated GTP binding protein 2 (DRG2), mRNA. 276 signal transduction GTP binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 14 all_neural(463;0.228) GAAGCTGAACCTGGACTATCT 0.567000 193 22 0 0 1 0 0 RGS7 6000 broad.mit.edu 37 1 240969602 240969602 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:240969602C>T uc001hyt.2 - 7 657 c.603G>A c.(601-603)ctG>ctA p.L201L RGS7_uc010pyh.2_Silent_p.L343L|RGS7_uc010pyj.1_Silent_p.L285L|RGS7_uc001hyu.2_Silent_p.L369L|RGS7_uc009xgn.1_Silent_p.L316L|RGS7_uc001hyv.2_Silent_p.L369L|RGS7_uc001hyw.2_Silent_p.L369L NM_002924 NP_002915 P49802 RGS7_HUMAN Homo sapiens regulator of G-protein signaling 7 (RGS7), mRNA. 369 G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|protein binding|signal transducer activity breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(173;0.0131) OV - Ovarian serous cystadenocarcinoma(106;0.027) GCCTCTTTTTCAGGTCCTCCA 0.458000 162 32 0 0 1 0 0 abParts 0 broad.mit.edu 37 14 106757935 106757935 + RNA SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr14:106757935C>T uc021ser.1 - 749 c.19443G>A Parts of antibodies, mostly variable regions. GACCAGACTCCTTCAAGGTGA 0.532000 40 12 0 0 1 0 0 PREX1 57580 broad.mit.edu 37 20 47269126 47269126 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr20:47269126G>A uc002xtw.1 - 20 2488 c.2465C>T c.(2464-2466)tCa>tTa p.S822L PREX1_uc002xtv.1_Missense_Mutation_p.S119L NM_020820 NP_065871 Q8TCU6 PREX1_HUMAN Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 (PREX1), mRNA. 822 actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|enzyme binding|phospholipid binding breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 110 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) TCTATTACCTGAATCAGCCTG 0.637000 122 85 0 0 1 0 0 IGSF9 57549 broad.mit.edu 37 1 159898756 159898756 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:159898756C>T uc001fur.2 - 18 2620 c.2422G>A c.(2422-2424)Gga>Aga p.G808R IGSF9_uc001fuq.2_Missense_Mutation_p.G792R|IGSF9_uc001fup.2_5'UTR NM_001135050 NP_001128522 Q9P2J2 TUTLA_HUMAN Homo sapiens immunoglobulin superfamily, member 9 (IGSF9), transcript variant 1, mRNA. 808 cell junction|integral to membrane|synapse p.A808A(1) central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_hematologic(112;0.0597) Breast(1374;0.000126) BRCA - Breast invasive adenocarcinoma(70;0.111) ACTGGGGATCCCTGGAGCTTC 0.667000 8 11 0 0 1 0 0 NRXN1 9378 broad.mit.edu 37 2 51254796 51254796 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr2:51254796C>T uc021vhh.1 - 0 1537 c.616G>A c.(616-618)Gat>Aat p.D206N NRXN1_uc021vhg.1_Missense_Mutation_p.D206N|NRXN1_uc021vhi.1_Missense_Mutation_p.D206N|NRXN1_uc021vhj.1_Missense_Mutation_p.D206N|NRXN1_uc021vhk.1_Missense_Mutation_p.D206N NM_004801 NP_004792 Q9ULB1 NRX1A_HUMAN Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA. 206 Laminin G-like 1. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) GGCGGCTCATCGTCCAGCTTC 0.697000 7 4 0 0 1 0 0 FGD4 121512 broad.mit.edu 37 12 32786516 32786516 + Nonsense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr12:32786516C>T uc010ske.2 + 14 2215 c.2131C>T c.(2131-2133)Caa>Taa p.Q711* FGD4_uc001rlc.3_Nonsense_Mutation_p.Q684*|FGD4_uc001rky.3_Nonsense_Mutation_p.Q351*|FGD4_uc001rkz.3_Nonsense_Mutation_p.Q599*|FGD4_uc001rla.3_Nonsense_Mutation_p.Q255*|FGD4_uc001rlb.1_Non-coding_Transcript NM_139241 NP_640334 Q96M96 FGD4_HUMAN Homo sapiens FYVE, RhoGEF and PH domain containing 4 (FGD4), mRNA. 599 PH 2. actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction Golgi apparatus|cytoskeleton|cytosol|filopodium|lamellipodium|ruffle Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 27 Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) CTACAAAGCTCAACTTGAATA 0.303000 23 16 0 0 1 0 0 TLR1 7096 broad.mit.edu 37 4 38799206 38799206 + Missense_Mutation SNP T G G TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr4:38799206T>G uc003gtl.3 - 3 1521 c.1247A>C c.(1246-1248)aAa>aCa p.K416T TLR1_uc021xnn.1_Missense_Mutation_p.K416T NM_003263 NP_003254 Q15399 TLR1_HUMAN Homo sapiens toll-like receptor 1 (TLR1), mRNA. 416 cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process Toll-like receptor 1-Toll-like receptor 2 protein complex|integral to plasma membrane|phagocytic vesicle membrane protein heterodimerization activity|transmembrane receptor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2) 28 ACAGTCTCCTTTCTTTTCATC 0.318000 32 13 0 0 1 0 0 SNAI3 333929 broad.mit.edu 37 16 88744976 88744977 + Missense_Mutation DNP CC TT TT rs141257304 TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr16:88744976_88744977CC>TT uc002flj.3 - 2 826_827 c.758_759GG>AA c.(757-759)cgg>cAA p.R253Q MGC23284_uc002fli.4_Intron NM_178310 NP_840101 Q3KNW1 SNAI3_HUMAN Homo sapiens snail homolog 3 (Drosophila) (SNAI3), mRNA. 253 oxidation-reduction process DNA binding|copper ion binding|zinc ion binding NS(1)|central_nervous_system(1)|kidney(1)|lung(1)|ovary(1)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(80;0.048) GCAGATGGGCCCGAAGGTTGGA 0.644000 24 33 0 0 1 0 0 SHANK2 22941 broad.mit.edu 37 11 70319203 70319203 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr11:70319203G>A uc001oqc.3 - 21 5235 c.5123C>T c.(5122-5124)tCa>tTa p.S1708L SHANK2_uc010rqn.2_Missense_Mutation_p.S1184L|SHANK2_uc001opz.3_Missense_Mutation_p.S1179L|BC127192_uc009ysn.1_Missense_Mutation_p.E35K|SHANK2_uc001opy.3_Missense_Mutation_p.S110L|SHANK2_uc021qmr.1_Non-coding_Transcript NM_012309 NP_036441 Q9UPX8 SHAN2_HUMAN Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA. 1395 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|SH3 domain binding|ionotropic glutamate receptor binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) AGGCTTATTTGAGATTGGCTG 0.507000 58 21 0 0 1 0 0 KIAA0586 9786 broad.mit.edu 37 14 58953747 58953747 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr14:58953747C>T uc010trr.2 + 23 3570 c.3326C>T c.(3325-3327)cCt>cTt p.P1109L KIAA0586_uc001xdu.4_Missense_Mutation_p.P1041L|KIAA0586_uc010trs.2_Missense_Mutation_p.P971L|KIAA0586_uc001xdt.4_Missense_Mutation_p.P1012L|KIAA0586_uc001xdv.4_Missense_Mutation_p.P980L|KIAA0586_uc010trt.2_Missense_Mutation_p.P916L|KIAA0586_uc010tru.1_Missense_Mutation_p.P916L NM_001244189 NP_001231118 E9PGW8 E9PGW8_HUMAN Homo sapiens KIAA0586 (KIAA0586), transcript variant 1, mRNA. 980 endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 ACCCCACTGCCTACCCCACAG 0.398000 42 23 0 0 1 0 0 SMAD9 4093 broad.mit.edu 37 13 37453819 37453819 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr13:37453819G>A uc001uvw.3 - 1 351 c.8C>T c.(7-9)tCc>tTc p.S3F SMAD9_uc001uvx.3_Missense_Mutation_p.S3F|SMAD9_uc010tep.2_5'UTR NM_001127217 NP_001120689 O15198 SMAD9_HUMAN Homo sapiens SMAD family member 9 (SMAD9), transcript variant a, mRNA. 3 BMP signaling pathway|transforming growth factor beta receptor signaling pathway cytosol|transcription factor complex sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8) 18 Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184) all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026) GGGGGTGGTGGAGTGCATAAG 0.617000 59 37 0 0 1 0 0 PDGFB 5155 broad.mit.edu 37 22 39627829 39627829 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr22:39627829G>A uc003axf.3 - 3 1243 c.254C>T c.(253-255)tCc>tTc p.S85F PDGFB_uc003axe.3_Missense_Mutation_p.S70F NM_002608 NP_002599 P01127 PDGFB_HUMAN Homo sapiens platelet-derived growth factor beta polypeptide (PDGFB), transcript variant 1, mRNA. 85 activation of protein kinase B activity|cellular response to mycophenolic acid|embryonic placenta development|heart development|hemopoiesis|metanephric glomerular mesangial cell development|monocyte chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|negative regulation of transcription, DNA-dependent|paracrine signaling|peptidyl-serine phosphorylation|peptidyl-tyrosine phosphorylation|platelet activation|platelet degranulation|positive regulation of DNA biosynthetic process|positive regulation of DNA replication|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of blood vessel endothelial cell migration|positive regulation of calcium ion import|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of glomerular filtration|positive regulation of glomerular mesangial cell proliferation|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription, DNA-dependent|reactive oxygen species metabolic process|transforming growth factor beta receptor signaling pathway Golgi membrane|basolateral plasma membrane|cell surface|endoplasmic reticulum lumen|extracellular region|platelet alpha granule lumen collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|superoxide-generating NADPH oxidase activator activity COL1A1/PDGFB(429) central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2) 7 Melanoma(58;0.04) Becaplermin(DB00102) AATGGTCAGGGAACCTGGGAG 0.642000 T COL1A1 DFSP 25 3 0 0 1 0 0 ANKRD20A9P 284232 broad.mit.edu 37 13 19414237 19414237 + RNA SNP A T T rs3963827 TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr13:19414237A>T uc010tcj.1 - 0 c.31873T>A Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA. ATTCTTCTCTATTTTTTTTGT 0.294000 26 3 0 0 1 0 0 OVGP1 5016 broad.mit.edu 37 1 111964008 111964008 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:111964008G>A uc001eba.3 - 7 849 c.793C>T c.(793-795)Cgt>Tgt p.R265C OVGP1_uc001eaz.3_Missense_Mutation_p.R227C|OVGP1_uc010owb.2_Intron NM_002557 NP_002548 Q12889 OVGP1_HUMAN Homo sapiens oviductal glycoprotein 1, 120kDa (OVGP1), mRNA. 265 chitin catabolic process|female pregnancy|single fertilization transport vesicle cation binding|chitinase activity NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1) 39 all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302) Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14) CGAAAGGTACGTCCATAGGTG 0.522000 51 42 0 0 1 0 0 TDP2 51567 broad.mit.edu 37 6 24658906 24658906 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr6:24658906G>A uc003nej.3 - 2 333 c.308C>T c.(307-309)tCt>tTt p.S103F TDP2_uc010jpu.1_Missense_Mutation_p.S103F NM_016614 NP_057698 O95551 TYDP2_HUMAN Homo sapiens tyrosyl-DNA phosphodiesterase 2 (TDP2), mRNA. 103 cell surface receptor linked signaling pathway|double-strand break repair PML body 5'-tyrosyl-DNA phosphodiesterase activity|magnesium ion binding|nuclease activity|protein binding|transcription corepressor activity kidney(2)|large_intestine(1)|lung(5)|ovary(1) 9 AGTATCTTCAGATGGGCTGAT 0.398000 Direct reversal of damage 83 30 0 0 1 0 0 HCFC2 29915 broad.mit.edu 37 12 104476331 104476331 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr12:104476331C>T uc001tkj.4 + 5 924 c.821C>T c.(820-822)tCa>tTa p.S274L HCFC2_uc009zul.3_Non-coding_Transcript NM_013320 NP_037452 Q9Y5Z7 HCFC2_HUMAN Homo sapiens host cell factor C2 (HCFC2), mRNA. 274 regulation of transcription from RNA polymerase II promoter|viral reproduction cytoplasm|nucleus transcription coactivator activity breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 35 ACTGAGACTTCACCTCATGAT 0.338000 65 37 0 0 1 0 0 DSCAML1 57453 broad.mit.edu 37 11 117314656 117314656 + Missense_Mutation SNP A T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr11:117314656A>T uc001prh.1 - 20 3990 c.3988T>A c.(3988-3990)Tct>Act p.S1330T NM_020693 NP_065744 Q8TD84 DSCL1_HUMAN Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA. 1270 Ig-like C2-type 10. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) CGGCCGGCAGAGGTGACGGCG 0.632000 14 19 0 0 1 0 0 SFTPD 6441 broad.mit.edu 37 10 81697706 81697706 + Missense_Mutation SNP C T T rs142628179 TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr10:81697706C>T uc001kbh.3 - 7 1073 c.1030G>A c.(1030-1032)Gat>Aat p.D344N NM_003019 NP_003010 P35247 SFTPD_HUMAN Homo sapiens surfactant protein D (SFTPD), mRNA. 344 C-type lectin. cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of T cell proliferation|negative regulation of interleukin-2 biosynthetic process|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis collagen|endocytic vesicle|extracellular space|lysosome bacterial cell surface binding|protein binding|sugar binding endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1) 17 Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027) Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109) CCGCCATCATCGTTGGGCTCC 0.552000 44 82 0 0 1 0 0 KL 9365 broad.mit.edu 37 13 33634819 33634819 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr13:33634819G>A uc001uus.3 + 3 1611 c.1603G>A c.(1603-1605)Gat>Aat p.D535N KL_uc001uur.1_3'UTR NM_004795 NP_004786 Q9UEF7 KLOT_HUMAN Homo sapiens klotho (KL), mRNA. 535 Glycosyl hydrolase-1 2. aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5) 41 all_epithelial(80;0.133) Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05) TTCACAGGTAGATACCACTCT 0.443000 37 23 0 0 1 0 0 CHRM2 1129 broad.mit.edu 37 7 136700756 136700756 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr7:136700756G>A uc003vtf.1 + 3 1767 c.1144G>A c.(1144-1146)Gaa>Aaa p.E382K CHRM2_uc003vtg.1_Missense_Mutation_p.E382K|CHRM2_uc003vti.1_Missense_Mutation_p.E382K|CHRM2_uc003vtm.1_Missense_Mutation_p.E382K|CHRM2_uc003vtj.1_Missense_Mutation_p.E382K|CHRM2_uc003vtk.1_Missense_Mutation_p.E382K|CHRM2_uc003vtl.1_Missense_Mutation_p.E382K|CHRM2_uc003vtn.1_Missense_Mutation_p.E382K|CHRM2_uc003vto.1_Missense_Mutation_p.E382K|AK097470_uc003vtp.1_Intron|CHRM2_uc022ame.1_Missense_Mutation_p.E382K NM_001006630 NP_001006633 P08172 ACM2_HUMAN Homo sapiens cholinergic receptor, muscarinic 2 (CHRM2), transcript variant 1, mRNA. 382 G-protein signaling, coupled to cAMP nucleotide second messenger|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|nervous system development|regulation of heart contraction|response to virus cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|protein binding p.R381Q(1)|p.R381L(1) central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 68 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508) TCCTTCCCGGGAAAAGAAAGT 0.458000 79 49 0 0 1 0 0 FBXW12 285231 broad.mit.edu 37 3 48423235 48423235 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr3:48423235C>T uc003csr.3 + 8 1217 c.1031C>T c.(1030-1032)cCt>cTt p.P344L FBXW12_uc010hjv.3_Missense_Mutation_p.P325L|FBXW12_uc003css.3_Missense_Mutation_p.P274L|FBXW12_uc010hjw.3_Missense_Mutation_p.P243L NM_207102 NP_996985 Q6X9E4 FBW12_HUMAN Homo sapiens F-box and WD repeat domain containing 12 (FBXW12), transcript variant 1, mRNA. 344 breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CTGAAGTGCCCTATCTGGATG 0.428000 23 16 0 0 1 0 0 NAALAD2 10003 broad.mit.edu 37 11 89891353 89891353 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr11:89891353C>T uc001pdf.4 + 6 946 c.837C>T c.(835-837)atC>atT p.I279I NAALAD2_uc009yvx.3_Silent_p.I279I|NAALAD2_uc009yvy.3_Intron|NAALAD2_uc001pdd.2_Silent_p.I279I|NAALAD2_uc001pde.3_Intron NM_005467 NP_005458 Q9Y3Q0 NALD2_HUMAN Homo sapiens N-acetylated alpha-linked acidic dipeptidase 2 (NAALAD2), mRNA. 279 NAALADase. proteolysis integral to membrane carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2) 59 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556) GAGTGGGAATCCCCCGAATAC 0.313000 16 39 0 0 1 0 0 OTUD6A 139562 broad.mit.edu 37 X 69283109 69283109 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chrX:69283109C>T uc004dxu.1 + 0 769 c.735C>T c.(733-735)atC>atT p.I245I NM_207320 NP_997203 Q7L8S5 OTU6A_HUMAN Homo sapiens OTU domain containing 6A (OTUD6A), mRNA. 245 OTU. autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1) 23 CCTTGATCATCGGGGAGGAGT 0.647000 4 45 0 0 1 0 0 KIAA1217 56243 broad.mit.edu 37 10 24762637 24762637 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr10:24762637G>A uc001iru.4 + 5 1730 c.1327G>A c.(1327-1329)Gaa>Aaa p.E443K KIAA1217_uc001irs.3_Missense_Mutation_p.E363K|KIAA1217_uc001irt.4_Missense_Mutation_p.E443K|KIAA1217_uc010qcy.2_Missense_Mutation_p.E443K|KIAA1217_uc010qcz.2_Missense_Mutation_p.E443K|KIAA1217_uc001irv.1_Missense_Mutation_p.E293K|KIAA1217_uc010qda.1_Non-coding_Transcript|KIAA1217_uc001irw.3_Missense_Mutation_p.E161K|KIAA1217_uc001irz.3_Missense_Mutation_p.E161K|KIAA1217_uc001irx.3_Missense_Mutation_p.E161K|KIAA1217_uc001iry.3_Missense_Mutation_p.E161K NM_019590 NP_062536 Q5T5P2 SKT_HUMAN Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA. 443 embryonic skeletal system development cytoplasm p.A442V(1) breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 AATGCAAGCGGAAATGCATAT 0.517000 38 21 0 0 1 0 0 CIITA 4261 broad.mit.edu 37 16 10995993 10995993 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr16:10995993G>A uc002daj.4 + 6 716 c.583G>A c.(583-585)Gag>Aag p.E195K CIITA_uc002dai.4_Missense_Mutation_p.E194K|CIITA_uc002dak.4_Intron|CIITA_uc002dag.2_Missense_Mutation_p.E194K|CIITA_uc002dah.2_Intron|CIITA_uc010bup.1_Missense_Mutation_p.E194K NM_000246 NP_000237 P33076 C2TA_HUMAN Homo sapiens class II, major histocompatibility complex, transactivator (CIITA), mRNA. 194 interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent nucleus ATP binding|activating transcription factor binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2) 12 GTTCAACCAGGAGCCAGCCTC 0.617000 T """FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6""" """PMBL, Hodgkin Lymphona, """ 93 31 0 0 1 0 0 FABP3 2170 broad.mit.edu 37 1 31840267 31840267 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:31840267C>T uc001bss.1 - 2 383 c.321G>A c.(319-321)cgG>cgA p.R107R NM_004102 NP_004093 P05413 FABPH_HUMAN Homo sapiens fatty acid binding protein 3, muscle and heart (mammary-derived growth inhibitor) (FABP3), mRNA. 107 negative regulation of cell proliferation p.R107L(1) large_intestine(1)|lung(2)|ovary(2) 5 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123) STAD - Stomach adenocarcinoma(196;0.0185)|READ - Rectum adenocarcinoma(331;0.149) CAATTAGCTCCCGCACAAGTG 0.473000 107 97 0 0 1 0 0 GALNTL5 168391 broad.mit.edu 37 7 151664387 151664387 + Nonsense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr7:151664387G>A uc003wkp.3 + 1 326 c.56G>A c.(55-57)tGg>tAg p.W19* GALNTL5_uc010lqf.3_5'UTR|GALNTL5_uc003wkq.3_5'UTR|GALNTL5_uc003wkr.3_Non-coding_Transcript|GALNTL5_uc003wks.3_Non-coding_Transcript NM_145292 NP_660335 Q7Z4T8 GLTL5_HUMAN Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5 (GALNTL5), transcript variant 1, mRNA. 19 Golgi membrane|integral to membrane transferase activity, transferring glycosyl groups NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3) 32 all_neural(206;0.187) all_hematologic(28;0.0749) OV - Ovarian serous cystadenocarcinoma(82;0.00427) UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166) TTTGGGATCTGGACAGCTCTG 0.393000 34 19 0 0 1 0 0 ACAP2 23527 broad.mit.edu 37 3 195009937 195009937 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr3:195009937C>T uc003fun.4 - 20 2328 c.2087G>A c.(2086-2088)cGa>cAa p.R696Q NM_012287 NP_036419 Q15057 ACAP2_HUMAN Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains 2 (ACAP2), mRNA. 696 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2) 27 ATTGGCACCTCGTTTTAGGAA 0.363000 30 11 0 0 1 0 0 GRM3 2913 broad.mit.edu 37 7 86394512 86394512 + Silent SNP G A A rs138292549 TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr7:86394512G>A uc003uid.3 + 1 1150 c.51G>A c.(49-51)aaG>aaA p.K17K GRM3_uc010lef.3_Silent_p.K15K|GRM3_uc010leg.3_Intron|GRM3_uc010leh.3_Intron NM_000840 NP_000831 Q14832 GRM3_HUMAN Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA. 17 synaptic transmission integral to plasma membrane p.K17N(2) NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) TGTTTTCAAAGGGATTTTTAC 0.393000 77 43 0 0 1 0 0 HOXD1 3231 broad.mit.edu 37 2 177053942 177053942 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr2:177053942C>T uc002ukv.4 + 0 636 c.413C>T c.(412-414)gCc>gTc p.A138V HOXD-AS1_uc021vsq.1_5'Flank|HOXD1_uc010fqy.3_Missense_Mutation_p.A138V|HOXD1_uc021vsr.1_Missense_Mutation_p.A138V NM_024501 NP_078777 Q9GZZ0 HXD1_HUMAN Homo sapiens homeobox D1 (HOXD1), mRNA. 138 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1) 10 OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226) Colorectal(32;0.0226) GCCACCTCGGCCGTCTTCTCG 0.706000 3 9 0 0 1 0 0 PIK3C2B 5287 broad.mit.edu 37 1 204399051 204399051 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:204399051C>T uc001haw.3 - 29 4875 c.4396G>A c.(4396-4398)Gag>Aag p.E1466K PIK3C2B_uc010pqv.2_Missense_Mutation_p.E1438K NM_002646 NP_002637 O00750 P3C2B_HUMAN Homo sapiens phosphoinositide-3-kinase, class 2, beta polypeptide (PIK3C2B), mRNA. 1466 PX. cell communication|phosphatidylinositol-mediated signaling endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 52 all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227) GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193) CCACCCACCTCGGCCACCTCA 0.667000 114 22 0 0 1 0 0 KANSL1L 151050 broad.mit.edu 37 2 210940298 210940298 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr2:210940298G>A uc002vds.3 - 5 1941 c.1733C>T c.(1732-1734)cCt>cTt p.P578L KANSL1L_uc002vdt.3_Missense_Mutation_p.P578L|KANSL1L_uc002vdw.3_Missense_Mutation_p.P578L|KANSL1L_uc002vdv.3_Missense_Mutation_p.P578L|KANSL1L_uc002vdx.1_Missense_Mutation_p.P578L NM_152519 NP_689732 A0AUZ9 CB067_HUMAN Homo sapiens chromosome 2 open reading frame 67 (C2orf67), mRNA. 578 ATAAAAAGTAGGGCTCAATCT 0.413000 31 6 0 0 1 0 0 NFYC 4802 broad.mit.edu 37 1 41236481 41236482 + Missense_Mutation DNP CC TT TT TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:41236481_41236482CC>TT uc001cge.3 + 9 1366_1367 c.1358_1359CC>TT c.(1357-1359)ccc>cTT p.P453L NFYC_uc001cfx.4_Missense_Mutation_p.P349L|NFYC_uc009vwd.3_Missense_Mutation_p.P330L|NFYC_uc001cfz.3_Missense_Mutation_p.P329L|NFYC_uc010ojn.2_Missense_Mutation_p.P292L|NFYC_uc001cfy.4_Missense_Mutation_p.P330L|NFYC_uc001cgc.3_Missense_Mutation_p.P296L|NFYC_uc001cgb.3_Missense_Mutation_p.P434L NM_001142588 NP_001136060 Q13952 NFYC_HUMAN Homo sapiens nuclear transcription factor Y, gamma (NFYC), transcript variant 1, mRNA. 453 protein folding|regulation of transcription from RNA polymerase II promoter CCAAT-binding factor complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)|skin(2) 15 Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;1.72e-17) GGGCAGGCCCCCCAGGTGACCG 0.639000 64 32 0 0 1 0 0 PLCB1 23236 broad.mit.edu 37 20 8713958 8713958 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr20:8713958C>T uc002wnb.3 + 18 1965 c.1962C>T c.(1960-1962)ttC>ttT p.F654F PLCB1_uc010zrb.1_Silent_p.F553F|PLCB1_uc002wna.3_Silent_p.F654F|PLCB1_uc002wnc.1_Silent_p.F553F|PLCB1_uc002wnd.1_Silent_p.F231F NM_015192 NP_056007 Q9NQ66 PLCB1_HUMAN Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA. 654 PI-PLC Y-box. CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission cytosol|nuclear chromatin|nuclear speck GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 95 AGCCAGAGTTCATGAGGAGGC 0.423000 72 49 0 0 1 0 0 POMT1 10585 broad.mit.edu 37 9 134387467 134387467 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr9:134387467G>A uc004cav.3 + 10 1294 c.1092G>A c.(1090-1092)gtG>gtA p.V364V POMT1_uc004cax.3_Silent_p.V342V|POMT1_uc011mcj.2_Silent_p.V120V|POMT1_uc004cau.3_Silent_p.V342V|POMT1_uc004caw.3_Silent_p.V288V|POMT1_uc011mck.2_Silent_p.V225V|POMT1_uc011mcl.2_Silent_p.V190V|POMT1_uc011mcm.2_Silent_p.V312V NM_007171 NP_009102 Q9Y6A1 POMT1_HUMAN Homo sapiens protein-O-mannosyltransferase 1 (POMT1), transcript variant 1, mRNA. 364 MIR 1. multicellular organismal development|protein O-linked glycosylation endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 31 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259) AGCAACAGGTGACCTGTTACC 0.542000 18 8 0 0 1 0 0 RHBDD2 57414 broad.mit.edu 37 7 75517636 75517636 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr7:75517636C>T uc003udw.1 + 3 1148 c.1064C>T c.(1063-1065)tCc>tTc p.S355F RHBDD2_uc003udv.1_Missense_Mutation_p.S214F NM_001040456 NP_001035547 Q6NTF9 RHBD2_HUMAN Homo sapiens rhomboid domain containing 2 (RHBDD2), transcript variant 1, mRNA. 355 integral to membrane serine-type endopeptidase activity kidney(1)|lung(4)|prostate(1) 6 GCTGCAGGCTCCAAGGAGTCC 0.607000 124 34 0 0 1 0 0 NLRP8 126205 broad.mit.edu 37 19 56467228 56467229 + Missense_Mutation DNP CC TT TT TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr19:56467228_56467229CC>TT uc002qmh.3 + 2 1875_1876 c.1804_1805CC>TT c.(1804-1806)ccg>TTg p.P602L NLRP8_uc010etg.3_Missense_Mutation_p.P602L NM_176811 NP_789781 Q86W28 NALP8_HUMAN Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA. 602 cytoplasm ATP binding p.P602L(3) breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) CCCACCTTCTCCGGGCAGTGGG 0.465000 35 18 0 0 1 0 0 SH3BP4 23677 broad.mit.edu 37 2 235950642 235950642 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr2:235950642C>T uc002vvp.3 + 3 1622 c.1229C>T c.(1228-1230)aCa>aTa p.T410I SH3BP4_uc010fym.3_Missense_Mutation_p.T410I|SH3BP4_uc002vvq.3_Missense_Mutation_p.T410I NM_014521 NP_055336 Q9P0V3 SH3B4_HUMAN Homo sapiens SH3-domain binding protein 4 (SH3BP4), mRNA. 410 endocytosis clathrin-coated vesicle|coated pit|nucleus protein binding central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2) 44 Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419) Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237) AGCAAAAGCACAGTGGGCCTC 0.542000 29 21 0 0 1 0 0 TBC1D3P2 440452 broad.mit.edu 37 17 60342248 60342248 + RNA SNP G C C rs76625372 TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr17:60342248G>C uc010woz.2 - 13 c.1881C>G Homo sapiens TBC1 domain family, member 3 pseudogene 2 (TBC1D3P2), non-coding RNA. breast(2)|kidney(1)|lung(2) 5 ATCTCTGAATGTCTCTCGAGC 0.483000 50 6 0 0 1 0 0 PLEC 5339 broad.mit.edu 37 8 144997101 144997101 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr8:144997101C>T uc003zaf.1 - 30 7577 c.7407G>A c.(7405-7407)ctG>ctA p.L2469L PLEC_uc003zab.1_Silent_p.L2332L|PLEC_uc003zac.1_Silent_p.L2336L|PLEC_uc003zad.2_Silent_p.L2332L|PLEC_uc003zae.1_Silent_p.L2300L|PLEC_uc003zag.1_Silent_p.L2310L|PLEC_uc003zah.2_Silent_p.L2318L|PLEC_uc003zaj.2_Silent_p.L2359L NM_201380 NP_958782 Q15149 PLEC_HUMAN Homo sapiens plectin (PLEC), transcript variant 6, mRNA. 2469 Central fibrous rod domain. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle p.L2468P(1) NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 TCTGCTGCTGCAGCAGTTCCG 0.662000 12 15 0 0 1 0 0 DACH2 117154 broad.mit.edu 37 X 85906120 85906120 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chrX:85906120G>A uc004eew.2 + 3 892 c.722G>A c.(721-723)gGa>gAa p.G241E DACH2_uc004eex.2_Missense_Mutation_p.G228E|DACH2_uc010nmq.2_Missense_Mutation_p.G107E|DACH2_uc011mra.1_Missense_Mutation_p.G74E|DACH2_uc010nmr.2_Missense_Mutation_p.G22E NM_053281 NP_001132987 Q96NX9 DACH2_HUMAN Homo sapiens dachshund homolog 2 (Drosophila) (DACH2), transcript variant 1, mRNA. 241 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|nucleotide binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3) 71 CAGGGAAATGGAAGCCAAAAT 0.433000 5 36 0 0 1 0 0 ZNF341 84905 broad.mit.edu 37 20 32371575 32371575 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr20:32371575C>T uc002wzy.3 + 11 1777 c.1757C>T c.(1756-1758)cCc>cTc p.P586L ZNF341_uc002wzx.3_Missense_Mutation_p.P579L|ZNF341_uc010geq.3_Missense_Mutation_p.P496L|ZNF341_uc010ger.3_Non-coding_Transcript NM_032819 NP_116208 Q9BYN7 ZN341_HUMAN Homo sapiens zinc finger protein 341 (ZNF341), mRNA. 586 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3) 31 CGTCATCTGCCCACCCACGGC 0.607000 50 45 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 186113681 186113681 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:186113681G>A uc001grq.1 + 90 14341 c.14112G>A c.(14110-14112)gcG>gcA p.A4704A MIR548F1_uc021pgf.1_Intron|HMCN1_uc001grs.1_Silent_p.A273A NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN Homo sapiens hemicentin 1 (HMCN1), mRNA. 4704 TSP type-1 4. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 GCAAGTGGGCGACTTGGGCCA 0.517000 173 84 0 0 1 0 0 CDHR2 54825 broad.mit.edu 37 5 176008550 176008550 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr5:176008550C>T uc021yie.1 + 16 2299 c.2025C>T c.(2023-2025)ctC>ctT p.L675L CDHR2_uc003mem.2_Silent_p.L675L|CDHR2_uc003men.1_Silent_p.L675L NM_001171976 NP_060145 Q9BYE9 CDHR2_HUMAN Homo sapiens cadherin-related family member 2 (CDHR2), transcript variant 1, mRNA. 675 Cadherin 6. homophilic cell adhesion|negative regulation of cell growth apical plasma membrane|cell junction|integral to membrane calcium ion binding|protein binding breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1) 56 AGCCTGTCCTCGGCACCAAAG 0.637000 62 21 0 0 1 0 0 CYP21A2 1589 broad.mit.edu 37 6 32008877 32008877 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr6:32008877G>A uc003nze.2 + 9 1561 c.1454G>A c.(1453-1455)gGg>gAg p.G485E CYP21A2_uc003nzf.2_Missense_Mutation_p.G455E NM_000500 NP_000491 P08686 CP21A_HUMAN Homo sapiens cytochrome P450, family 21, subfamily A, polypeptide 2 (CYP21A2), transcript variant 1, mRNA. 484 glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 11 CAGCCCCGGGGGATGGGGGCC 0.677000 5 20 0 0 1 0 0 CSF3R 1441 broad.mit.edu 37 1 36939112 36939112 + Missense_Mutation SNP C A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:36939112C>A uc001caw.2 - 5 1181 c.597G>T c.(595-597)atG>atT p.M199I CSF3R_uc001cav.2_Missense_Mutation_p.M199I|CSF3R_uc001cax.2_Missense_Mutation_p.M199I NM_000760 NP_000751 Q99062 CSF3R_HUMAN Homo sapiens colony stimulating factor 3 receptor (granulocyte) (CSF3R), transcript variant 1, mRNA. 199 Fibronectin type-III 1. cell adhesion|defense response extracellular region|integral to plasma membrane cytokine receptor activity central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) Filgrastim(DB00099)|Pegfilgrastim(DB00019) CCCAGATGCCCATATTCTGGT 0.597000 73 20 4.96729e-08 5.02684e-08 1 1 0 TFR2 7036 broad.mit.edu 37 7 100225714 100225714 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr7:100225714G>A uc003uvv.1 - 11 1588 c.1519C>T c.(1519-1521)Ctg>Ttg p.L507L TFR2_uc010lhc.1_Silent_p.L48L|TFR2_uc003uvu.1_Silent_p.L336L NM_003227 NP_003218 Q9UP52 TFR2_HUMAN Homo sapiens transferrin receptor 2 (TFR2), transcript variant 1, mRNA. 507 cellular iron ion homeostasis|iron ion transport|proteolysis cytoplasm|integral to plasma membrane peptidase activity|transferrin receptor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 23 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) GCGTTGTCCAGGCTCACGTAC 0.672000 77 15 0 0 1 0 0 SVEP1 79987 broad.mit.edu 37 9 113197546 113197546 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr9:113197546G>A uc010mtz.3 - 28 5200 c.4863C>T c.(4861-4863)atC>atT p.I1621I NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA. 1621 Pentaxin. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 TCTTAGAATCGATCTTCACTT 0.448000 42 10 0 0 1 0 0 FASN 2194 broad.mit.edu 37 17 80047254 80047254 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr17:80047254C>T uc002kdu.3 - 12 2089 c.1972G>A c.(1972-1974)Gtg>Atg p.V658M FASN_uc002kdw.1_5'Flank NM_004104 NP_004095 P49327 FAS_HUMAN Homo sapiens fatty acid synthase (FASN), mRNA. 658 Acyl and malonyl transferases (By similarity). energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process Golgi apparatus|cytosol|melanosome|plasma membrane 3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1) 34 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237) Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339) AACTCAAACACCGGGGCCTGG 0.637000 40 43 0 0 1 0 0 MYH6 4624 broad.mit.edu 37 14 23870053 23870053 + Silent SNP G A A rs61742470 byFrequency TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr14:23870053G>A uc001wjv.3 - 12 1346 c.1275C>T c.(1273-1275)atC>atT p.I425I MYH6_uc010akp.2_Silent_p.I425I NM_002471 NP_002462 P13533 MYH6_HUMAN Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA. 425 Myosin head-like. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) CCAGAGCCCCGATGGAGTAGT 0.582000 79 33 0 0 1 0 0 MYO15A 51168 broad.mit.edu 37 17 18022609 18022609 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr17:18022609C>T uc021trm.1 + 0 714 c.495C>T c.(493-495)tcC>tcT p.S165S MYO15A_uc021trl.1_Silent_p.S165S NM_016239 NP_057323 Q9UKN7 MYO15_HUMAN Homo sapiens myosin XVA (MYO15A), mRNA. 165 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium ATP binding|actin binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) GCTCGAGCTCCCGCATGGGCT 0.677000 117 17 0 0 1 0 0 MYT1L 23040 broad.mit.edu 37 2 1893232 1893232 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr2:1893232C>T uc002qxe.3 - 15 3128 c.2301G>A c.(2299-2301)gtG>gtA p.V767V MYT1L_uc002qxd.3_Silent_p.V765V|MYT1L_uc010ewl.2_Non-coding_Transcript NM_015025 NP_055840 Q9UL68 MYT1L_HUMAN Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA. 767 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) CGTTCTCATCCACCTCCATGT 0.602000 19 21 0 0 1 0 0 SON 6651 broad.mit.edu 37 21 34923408 34923408 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr21:34923408C>T uc002yse.1 + 2 1920 c.1871C>T c.(1870-1872)cCt>cTt p.P624L SON_uc002ysb.1_Missense_Mutation_p.P624L|SON_uc002ysc.3_Missense_Mutation_p.P624L|SON_uc002ysd.3_5'UTR|SON_uc002ysf.1_Intron|SON_uc021win.1_Missense_Mutation_p.P270L|SON_uc002ysg.3_5'Flank NM_138927 NP_620305 P18583 SON_HUMAN Homo sapiens SON DNA binding protein (SON), transcript variant f, mRNA. 624 RNA splicing|anti-apoptosis|cytokinesis|mRNA processing|regulation of RNA splicing|regulation of cell cycle|spindle pole body separation nuclear speck DNA binding|double-stranded RNA binding breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 TTGGGGCAGCCTCTGGCAACA 0.652000 54 23 0 0 1 0 0 OR6K3 391114 broad.mit.edu 37 1 158687237 158687237 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:158687237C>T uc021pbn.1 - 0 669 c.669G>A c.(667-669)gtG>gtA p.V223V NM_001005327 NP_001005327 Q8NGY3 OR6K3_HUMAN Homo sapiens olfactory receptor, family 6, subfamily K, member 3 (OR6K3), mRNA. 239 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1) 41 all_hematologic(112;0.0378) TCCTCAATATCACAGTGACAA 0.448000 70 58 0 0 1 0 0 SLC22A14 9389 broad.mit.edu 37 3 38354590 38354591 + Missense_Mutation DNP CC TT TT TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr3:38354590_38354591CC>TT uc003cib.2 + 4 1118_1119 c.1045_1046CC>TT c.(1045-1047)cct>TTt p.P349F SLC22A14_uc010hhc.1_Missense_Mutation_p.P349F|SLC22A14_uc011ayo.1_Non-coding_Transcript NM_004803 NP_004794 Q9Y267 S22AE_HUMAN Homo sapiens solute carrier family 22, member 14 (SLC22A14), mRNA. 349 integral to plasma membrane organic cation transmembrane transporter activity central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1) 21 KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696) GAAGACCATTCCTTCAAATCTG 0.594000 2 8 0 0 1 0 0 PLK1S1 55857 broad.mit.edu 37 20 21117084 21117084 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr20:21117084C>T uc002wsb.3 + 2 339 c.206C>T c.(205-207)tCt>tTt p.S69F PLK1S1_uc010zsh.2_Intron|PLK1S1_uc010zsi.2_Intron|PLK1S1_uc010zsj.2_Intron NM_018474 NP_060944 Q2M2Z5 KIZ_HUMAN Homo sapiens polo-like kinase 1 substrate 1 (PLK1S1), transcript variant 1, mRNA. 69 spindle organization centrosome protein kinase binding ATATGTGAATCTGAAAAGAAG 0.338000 8 7 0 0 1 0 0 PRIC285 85441 broad.mit.edu 37 20 62194565 62194565 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr20:62194565G>A uc002yfm.2 - 8 6502 c.5610C>T c.(5608-5610)ttC>ttT p.F1870F PRIC285_uc002yfl.1_Silent_p.F1301F NM_001037335 NP_001032412 Q9BYK8 PR285_HUMAN Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA. 1870 cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm ATP binding|DNA binding|RNA binding|helicase activity|ribonuclease activity|transcription coactivator activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2) 47 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06) CCACCTCCAGGAAATGGCCAC 0.701000 19 3 0 0 1 0 0 GK2 2712 broad.mit.edu 37 4 80328367 80328367 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr4:80328367G>A uc003hlu.3 - 0 1006 c.988C>T c.(988-990)Cgt>Tgt p.R330C NM_033214 NP_149991 Q14410 GLPK2_HUMAN Homo sapiens glycerol kinase 2 (GK2), mRNA. 330 glycerol-3-phosphate metabolic process mitochondrial outer membrane ATP binding|glycerol kinase activity autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 39 CTTAGCCAACGAATAACAGCA 0.428000 71 55 0 0 1 0 0 MGC70870 403340 broad.mit.edu 37 GL000205.1 117405 117405 + RNA SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chrGL000205.1:117405C>T uc002kgk.4 + 0 c.783C>T Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA. TAAACGAAGTCGTGGGCGCCA 0.562000 82 16 0 0 1 0 0 SP140L 93349 broad.mit.edu 37 2 231264863 231264863 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr2:231264863G>A uc010fxm.1 + 14 1310 c.1219G>A c.(1219-1221)Gag>Aag p.E407K SP140L_uc010fxo.1_Missense_Mutation_p.E179K NM_138402 NP_612411 Q9H930 LY10L_HUMAN Homo sapiens SP140 nuclear body protein-like (SP140L), mRNA. 407 nucleus DNA binding|metal ion binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1) 20 GGATGAGTGTGAGGTGTGCCG 0.512000 79 20 0 0 1 0 0 CABS1 85438 broad.mit.edu 37 4 71201233 71201233 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr4:71201233C>T uc003hff.3 + 0 563 c.477C>T c.(475-477)acC>acT p.T159T CABS1_uc021xoz.1_Silent_p.T159T NM_033122 NP_149113 Q96KC9 CABS1_HUMAN Homo sapiens calcium-binding protein, spermatid-specific 1 (CABS1), mRNA. 159 flagellum calcium ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(4)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 TCTCAATAACCTCTGAAGTCT 0.408000 38 31 0 0 1 0 0 DFNB31 25861 broad.mit.edu 37 9 117186686 117186686 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr9:117186686C>T uc004biy.4 - 5 835 c.195G>A c.(193-195)gaG>gaA p.E65E DFNB31_uc004bix.3_Silent_p.E97E|DFNB31_uc004biz.4_Silent_p.E448E|DFNB31_uc004bja.4_Silent_p.E448E NM_001083885 NP_001077354 Q9P202 WHRN_HUMAN Homo sapiens deafness, autosomal recessive 31 (DFNB31), transcript variant 2, mRNA. 448 inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound cytoplasm|growth cone|stereocilium central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 CACCACGGTACTCATCCAGGT 0.637000 43 21 0 0 1 0 0 SNTG2 54221 broad.mit.edu 37 2 1251212 1251212 + Silent SNP T A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr2:1251212T>A uc002qwq.3 + 11 1131 c.1002T>A c.(1000-1002)ccT>ccA p.P334P SNTG2_uc010ewi.3_Silent_p.P207P NM_018968 NP_061841 Q9NY99 SNTG2_HUMAN Homo sapiens syntrophin, gamma 2 (SNTG2), mRNA. 334 PH. central nervous system development cytoplasm|cytoskeleton|sarcolemma|syntrophin complex PDZ domain binding|actin binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.00469) all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173) TCAGCACTCCTCCGGTAAGGA 0.542000 12 20 0 0 1 0 0 ZNF598 90850 broad.mit.edu 37 16 2050213 2050214 + Missense_Mutation DNP GG AA AA TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr16:2050213_2050214GG>AA uc002cof.1 - 10 1351_1352 c.1336_1337CC>TT c.(1336-1338)ccc>TTc p.P446F TCRBV20S1_uc021tak.1_Intron|ZNF598_uc002coe.1_5'UTR NM_178167 NP_835461 Q86UK7 ZN598_HUMAN Homo sapiens zinc finger protein 598 (ZNF598), mRNA. 446 intracellular zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1) 16 AGAGAGGCTGGGGAAGTCTTCG 0.658000 94 25 0 0 1 0 0 CD163 9332 broad.mit.edu 37 12 7653847 7653847 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr12:7653847C>T uc001qsz.3 - 2 473 c.345G>A c.(343-345)atG>atA p.M115I CD163_uc001qta.3_Missense_Mutation_p.M115I|CD163_uc009zfw.2_Missense_Mutation_p.M115I NM_004244 NP_004235 Q86VB7 C163A_HUMAN Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA. 115 SRCR 1. acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 AAACATGATCCATCCAAATGC 0.483000 100 77 0 0 1 0 0 OBFC1 79991 broad.mit.edu 37 10 105657312 105657312 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr10:105657312G>A uc001kxl.3 - 5 822 c.747C>T c.(745-747)tcC>tcT p.S249S OBFC1_uc001kxm.3_Silent_p.S249S NM_024928 NP_079204 Q9H668 STN1_HUMAN Homo sapiens oligonucleotide/oligosaccharide-binding fold containing 1 (OBFC1), mRNA. 249 positive regulation of DNA replication|telomere maintenance via telomere lengthening protein binding|single-stranded telomeric DNA binding large_intestine(3)|lung(7)|ovary(1)|pancreas(2) 13 Colorectal(252;0.178) Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151) TCACTTGGTCGGAGGAGGCAC 0.527000 12 44 0 0 1 0 0 IL13RA2 3598 broad.mit.edu 37 X 114244154 114244154 + Missense_Mutation SNP G T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chrX:114244154G>T uc004epx.3 - 6 907 c.782C>A c.(781-783)cCt>cAt p.P261H IL13RA2_uc010nqd.1_Missense_Mutation_p.P261H|IL13RA2_uc022cdb.1_Missense_Mutation_p.P261H NM_000640 NP_000631 Q14627 I13R2_HUMAN Homo sapiens interleukin 13 receptor, alpha 2 (IL13RA2), mRNA. 261 Fibronectin type-III 3. extracellular space|integral to membrane|soluble fraction cytokine receptor activity NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 23 AGGTCCCAAAGGTATGCTCCA 0.373000 7 42 1.8453e-21 1.89199e-21 1 1 0 TERT 7015 broad.mit.edu 37 5 1271297 1271297 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr5:1271297C>T uc003jcb.1 - 7 2463 c.2405G>A c.(2404-2406)aGc>aAc p.S802N TERT_uc003jbz.1_Intron|TERT_uc003jcc.1_Missense_Mutation_p.S802N|TERT_uc003jca.1_Missense_Mutation_p.S790N|TERT_uc003jcd.1_Intron|TERT_uc003jce.1_Intron|TERT_uc021xvz.1_Intron|TERT_uc021xwa.1_Intron|TERT_uc021xwb.1_Intron NM_198253 NP_937983 O14746 TERT_HUMAN Homo sapiens telomerase reverse transcriptase (TERT), transcript variant 1, mRNA. 802 Reverse transcriptase. DNA strand elongation|anti-apoptosis|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase PML body|cytoplasm|nucleolus|telomerase holoenzyme complex protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 41 all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10) Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) GAGGCCACTGCTGGCCTCATT 0.637000 TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis 38 19 0 0 1 0 0 IFNA7 3444 broad.mit.edu 37 9 21201927 21201927 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr9:21201927G>A uc003zop.1 - 0 278 c.238C>T c.(238-240)Ctc>Ttc p.L80F IFNA14_uc003zoo.1_Intron NM_021057 NP_066401 P01567 IFNA7_HUMAN Homo sapiens interferon, alpha 7 (IFNA7), mRNA. 80 blood coagulation|cell-cell signaling|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|interferon-alpha/beta receptor binding endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(6) 12 GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) ATCTCATGGAGGACAGAGATG 0.468000 66 32 0 0 1 0 0 S100A16 140576 broad.mit.edu 37 1 153580059 153580059 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:153580059C>T uc001fcc.2 - 2 396 c.263G>A c.(262-264)gGc>gAc p.G88D S100A16_uc001fcd.1_Missense_Mutation_p.G88D NM_080388 NP_525127 Q96FQ6 S10AG_HUMAN Homo sapiens S100 calcium binding protein A16 (S100A16), mRNA. 88 EF-hand 2. cytosol|nucleolus calcium ion binding|protein homodimerization activity breast(1)|large_intestine(1)|prostate(1) 3 all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) GGCGATGGGGCCGGTGATGCC 0.592000 96 53 0 0 1 0 0 ADAMTS3 9508 broad.mit.edu 37 4 73186523 73186523 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr4:73186523G>A uc003hgk.2 - 6 1047 c.1010C>T c.(1009-1011)tCc>tTc p.S337F NM_014243 NP_055058 O15072 ATS3_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 3 (ADAMTS3), mRNA. 337 Peptidase M12B. collagen catabolic process|collagen fibril organization|proteolysis proteinaceous extracellular matrix heparin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) TTGCTGTTGGGACGCCCAGCG 0.453000 61 44 0 0 1 0 0 ZNF415 55786 broad.mit.edu 37 19 53612595 53612595 + Nonsense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr19:53612595G>A uc002qax.3 - 6 1196 c.847C>T c.(847-849)Cag>Tag p.Q283* ZNF415_uc010yds.2_Nonsense_Mutation_p.Q235*|ZNF415_uc010ydt.2_Nonsense_Mutation_p.Q235*|ZNF415_uc002qau.3_Nonsense_Mutation_p.Q222*|ZNF415_uc002qav.3_Nonsense_Mutation_p.Q247*|ZNF415_uc002qaw.3_Nonsense_Mutation_p.Q235*|ZNF415_uc002qay.3_Nonsense_Mutation_p.Q222*|ZNF415_uc002qaz.3_Nonsense_Mutation_p.Q283*|ZNF415_uc002qba.3_Nonsense_Mutation_p.Q5* Q09FC8 ZN415_HUMAN Homo sapiens zinc finger protein 415 (ZNF415), transcript variant 4, non-coding RNA. 283 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton|nucleolus DNA binding|zinc ion binding breast(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 GBM - Glioblastoma multiforme(134;0.0191) TGACTTACCTGACGTACAGTC 0.403000 31 32 0 0 1 0 0 GLT6D1 360203 broad.mit.edu 37 9 138516311 138516311 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr9:138516311C>T uc010nbd.1 - 4 717 c.463G>A c.(463-465)Ggt>Agt p.G155S NM_182974 NP_892019 Q7Z4J2 GL6D1_HUMAN Homo sapiens glycosyltransferase 6 domain containing 1 (GLT6D1), mRNA. 155 carbohydrate metabolic process integral to membrane transferase activity, transferring hexosyl groups endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 15 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05) ATGTGTTCACCCAGGCTCTTC 0.577000 29 13 0 0 1 0 0 SLC27A3 11000 broad.mit.edu 37 1 153748254 153748254 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:153748254C>T uc001fcz.3 + 0 487 c.422C>T c.(421-423)tCa>tTa p.S141L SLC27A3_uc009won.3_Non-coding_Transcript NM_024330 NP_077306 Q5K4L6 S27A3_HUMAN Homo sapiens solute carrier family 27 (fatty acid transporter), member 3 (SLC27A3), mRNA. 141 fatty acid metabolic process integral to membrane|mitochondrial membrane ligase activity|nucleotide binding NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1) 14 all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) TTTAGCTACTCAGAGGCGGAG 0.716000 52 8 0 0 1 0 0 HRC 3270 broad.mit.edu 37 19 49657953 49657953 + Missense_Mutation SNP C T T rs148430204 TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr19:49657953C>T uc002pmv.3 - 0 729 c.542G>A c.(541-543)gGa>gAa p.G181E NM_002152 NP_002143 P23327 SRCH_HUMAN Homo sapiens histidine rich calcium binding protein (HRC), mRNA. 181 4 X tandem repeats, acidic.|6 X approximate tandem repeats. muscle contraction sarcoplasmic reticulum lumen calcium ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2) 34 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622) GCCTCGGTGTCCATGCCTGAG 0.577000 47 51 0 0 1 0 0 COBL 23242 broad.mit.edu 37 7 51111352 51111352 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr7:51111352C>T uc003tps.3 - 8 1490 c.1305G>A c.(1303-1305)ccG>ccA p.P435P COBL_uc003tpr.4_Silent_p.P378P|COBL_uc011kcl.2_Silent_p.P378P|COBL_uc010kzc.3_Silent_p.P378P|COBL_uc003tpp.4_Silent_p.P164P|COBL_uc003tpq.4_Silent_p.P319P NM_015198 NP_056013 O75128 COBL_HUMAN Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA. 378 NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Glioma(55;0.08) GGGCTCCATCCGGGCTGCAGT 0.612000 40 29 0 0 1 0 0 OR2T4 127074 broad.mit.edu 37 1 248525486 248525486 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:248525486G>A uc001ieh.1 + 0 604 c.604G>A c.(604-606)Gga>Aga p.G202R NM_001004696 NP_001004696 Q8NH00 OR2T4_HUMAN Homo sapiens olfactory receptor, family 2, subfamily T, member 4 (OR2T4), mRNA. 202 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R201S(1) central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47) 56 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CCCCTTCCGTGGATCCCGGGA 0.498000 208 177 0 0 1 0 0 ADH6 130 broad.mit.edu 37 4 100137370 100137370 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr4:100137370G>A uc003huo.2 - 1 162 c.68C>T c.(67-69)tCt>tTt p.S23F LOC100507053_uc003hum.2_Intron|ADH6_uc011cef.1_5'UTR|ADH6_uc003hup.4_Missense_Mutation_p.S23F|ADH6_uc010ile.3_Missense_Mutation_p.S23F NM_001102470 NP_001095940 P28332 ADH6_HUMAN Homo sapiens alcohol dehydrogenase 6 (class V) (ADH6), transcript variant 1, mRNA. 23 ethanol oxidation|response to ethanol|xenobiotic metabolic process cytosol alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2) 20 OV - Ovarian serous cystadenocarcinoma(123;3.58e-08) Abacavir(DB01048)|NADH(DB00157) CTCTTCAATAGAAAATGGTGC 0.423000 56 14 0 0 1 0 0 UGT2A3 79799 broad.mit.edu 37 4 69817322 69817322 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr4:69817322C>T uc003hef.2 - 0 188 c.157G>A c.(157-159)Gta>Ata p.V53I UGT2A3_uc010ihp.1_Non-coding_Transcript NM_024743 NP_079019 Q6UWM9 UD2A3_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A3 (UGT2A3), mRNA. 53 integral to membrane glucuronosyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 AATACTGTTACCTCATGGCCT 0.463000 62 29 0 0 1 0 0 DMD 1756 broad.mit.edu 37 X 31947833 31947833 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chrX:31947833C>T uc004dda.1 - 46 7036 c.6792G>A c.(6790-6792)caG>caA p.Q2264Q DMD_uc004dcr.1_5'UTR|DMD_uc004dcs.1_5'UTR|DMD_uc004dct.1_5'UTR|DMD_uc004dcu.1_5'UTR|DMD_uc004dcv.1_5'UTR|DMD_uc004dcw.2_Silent_p.Q920Q|DMD_uc004dcx.2_Silent_p.Q923Q|DMD_uc004dcz.2_Silent_p.Q2141Q|DMD_uc004dcy.1_Silent_p.Q2260Q|DMD_uc004ddb.1_Silent_p.Q2256Q|DMD_uc010ngn.1_Intron|JA202350_uc022bup.1_5'Flank NM_004006 NP_004001 P11532 DMD_HUMAN Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA. 2264 muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) TGAGAATTCCCTGGCGCAGGG 0.418000 11 57 0 0 1 0 0 ZNF385D 79750 broad.mit.edu 37 3 21462893 21462893 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr3:21462893C>T uc003cce.3 - 7 1409 c.1001G>A c.(1000-1002)cGa>cAa p.R334Q NM_024697 NP_078973 Q9H6B1 Z385D_HUMAN Homo sapiens zinc finger protein 385D (ZNF385D), mRNA. 334 nucleus nucleic acid binding|zinc ion binding NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4) 46 TGGTAGAATTCGTGGAGCCAA 0.433000 10 6 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179640506 179640506 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr2:179640506C>T uc021vsy.1 - 27 6310 c.6085G>A c.(6085-6087)Gaa>Aaa p.E2029K TTN_uc021vsz.1_Missense_Mutation_p.E1983K|TTN_uc021vta.1_Missense_Mutation_p.E1983K|TTN_uc021vtb.1_Missense_Mutation_p.E1983K|TTN_uc002unb.2_Missense_Mutation_p.E2029K|AK123298_uc002unc.1_5'Flank NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 2029 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTGAGGAGTTCCTCATAGGAT 0.453000 91 13 0 0 1 0 0 CENPF 1063 broad.mit.edu 37 1 214820055 214820055 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:214820055G>A uc001hkm.3 + 12 7316 c.7142G>A c.(7141-7143)aGa>aAa p.R2381K NM_016343 NP_057427 P49454 CENPF_HUMAN Homo sapiens centromere protein F, 350/400kDa (mitosin) (CENPF), mRNA. 2477 2 X 177 AA tandem repeats.|Interaction with NDE1 and NDEL1. DNA replication|G2 phase of mitotic cell cycle|cell differentiation|cell division|cell proliferation|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1) 126 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) CAAAGTCTGAGAGGTCTGGAA 0.383000 23 32 0 0 1 0 0 RBMS3 27303 broad.mit.edu 37 3 29938927 29938927 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr3:29938927C>T uc003cel.3 + 8 1219 c.849C>T c.(847-849)atC>atT p.I283I RBMS3_uc010hfq.3_Silent_p.I296I|RBMS3_uc003cek.3_Silent_p.I283I|RBMS3_uc010hfr.3_Silent_p.I283I|RBMS3_uc003cem.3_Silent_p.I282I NM_001003793 NP_001003793 Q6XE24 RBMS3_HUMAN Homo sapiens RNA binding motif, single stranded interacting protein 3 (RBMS3), transcript variant 1, mRNA. 283 cytoplasm RNA binding|nucleotide binding breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 11 Ovarian(412;0.0956) AGACATCTATCACGCCATTCA 0.413000 67 37 0 0 1 0 0 ARHGAP20 57569 broad.mit.edu 37 11 110462768 110462768 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr11:110462768G>A uc001pkz.1 - 10 1361 c.1076C>T c.(1075-1077)cCa>cTa p.P359L ARHGAP20_uc001pky.1_Missense_Mutation_p.P336L|ARHGAP20_uc009yyb.1_Missense_Mutation_p.P323L|ARHGAP20_uc001pla.1_Missense_Mutation_p.P323L|ARHGAP20_uc001plb.2_5'Flank NM_020809 NP_065860 Q9P2F6 RHG20_HUMAN Homo sapiens Rho GTPase activating protein 20 (ARHGAP20), mRNA. 359 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 60 all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475) GAGCTGTCCTGGCATAGGTGA 0.448000 22 82 0 0 1 0 0 GRIN2D 2906 broad.mit.edu 37 19 48945210 48945210 + Missense_Mutation SNP G T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr19:48945210G>T uc002pjc.4 + 10 2525 c.2437G>T c.(2437-2439)Gat>Tat p.D813Y GRIN2D_uc010elx.3_Missense_Mutation_p.D48Y NM_000836 NP_000827 O15399 NMDE4_HUMAN Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2D (GRIN2D), mRNA. 813 cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|protein binding autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1) 37 all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161) L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173) GTTCCTGGGGGATGGTGCGGC 0.662000 34 8 1.12685e-05 1.13582e-05 1 1 0 COL4A4 1286 broad.mit.edu 37 2 227945256 227945256 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr2:227945256C>T uc021vxr.1 - 22 1807 c.1706G>A c.(1705-1707)gGa>gAa p.G569E COL4A4_uc021vxs.1_Missense_Mutation_p.G569E NM_000092 NP_000083 P53420 CO4A4_HUMAN Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA. 569 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) ACCTCTTTCTCCTTTGTGCCC 0.473000 46 25 0 0 1 0 0 TARS 6897 broad.mit.edu 37 5 33463925 33463925 + Nonsense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr5:33463925C>T uc003jhy.3 + 16 2198 c.1903C>T c.(1903-1905)Caa>Taa p.Q635* TARS_uc010iup.1_Nonsense_Mutation_p.Q576*|TARS_uc011coc.2_Nonsense_Mutation_p.Q656*|TARS_uc003jhz.3_Nonsense_Mutation_p.Q531*|TARS_uc011cod.2_Nonsense_Mutation_p.Q514* NM_152295 NP_689508 P26639 SYTC_HUMAN Homo sapiens threonyl-tRNA synthetase (TARS), mRNA. 635 threonyl-tRNA aminoacylation cytosol ATP binding|protein homodimerization activity|threonine-tRNA ligase activity NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1) 29 L-Threonine(DB00156) TGAATATGCCCAAAAGGTAAG 0.403000 13 6 0 0 1 0 0 EDNRA 1909 broad.mit.edu 37 4 148457138 148457138 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr4:148457138G>A uc003iky.3 + 4 1387 c.857G>A c.(856-858)aGg>aAg p.R286K EDNRA_uc011cid.2_Missense_Mutation_p.R61K|EDNRA_uc010ipg.2_Missense_Mutation_p.R177K|EDNRA_uc010ipf.1_Non-coding_Transcript NM_001957 NP_001948 P25101 EDNRA_HUMAN Homo sapiens endothelin receptor type A (EDNRA), transcript variant 1, mRNA. 286 activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange integral to plasma membrane endothelin-A receptor activity|phosphatidylinositol phospholipase C activity p.R285T(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1) 17 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.154) Bosentan(DB00559) TTGAACAGAAGGAATGGCAGC 0.468000 83 55 0 0 1 0 0 OR10K2 391107 broad.mit.edu 37 1 158389972 158389972 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:158389972G>A uc010pii.2 - 0 685 c.685C>T c.(685-687)Cct>Tct p.P229S NM_001004476 NP_001004476 Q6IF99 O10K2_HUMAN Homo sapiens olfactory receptor, family 10, subfamily K, member 2 (OR10K2), mRNA. 229 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_hematologic(112;0.0378) AGTGTGGAAGGAAACTGAAGT 0.448000 63 58 0 0 1 0 0 ADAMTS16 170690 broad.mit.edu 37 5 5186196 5186196 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr5:5186196C>T uc003jdl.3 + 4 933 c.795C>T c.(793-795)ttC>ttT p.F265F ADAMTS16_uc003jdk.1_Silent_p.F265F|ADAMTS16_uc003jdj.1_Silent_p.F265F NM_139056 NP_620687 Q8TE57 ATS16_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA. 265 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 107 AAGACCTCTTCATCTTGCCAG 0.507000 162 99 0 0 1 0 0 NCAN 1463 broad.mit.edu 37 19 19339194 19339194 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr19:19339194C>T uc002nlz.3 + 7 2864 c.2765C>T c.(2764-2766)cCc>cTc p.P922L NCAN_uc010ecc.1_Missense_Mutation_p.P486L NM_004386 NP_004377 O14594 NCAN_HUMAN Homo sapiens neurocan (NCAN), mRNA. 922 axon guidance|cell adhesion extracellular region calcium ion binding|hyaluronic acid binding|sugar binding breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 Epithelial(12;0.00544) CAGAGCAGTCCCCTAGGGAAA 0.632000 130 73 0 0 1 0 0 ST7L 54879 broad.mit.edu 37 1 113140635 113140635 + Missense_Mutation SNP A T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:113140635A>T uc001ecd.3 - 4 885 c.580T>A c.(580-582)Ttt>Att p.F194I ST7L_uc009wgh.3_Non-coding_Transcript|ST7L_uc001ecc.3_Missense_Mutation_p.F11I|ST7L_uc010owg.2_Intron|ST7L_uc010owh.2_Intron|ST7L_uc001ecf.3_Missense_Mutation_p.F177I|ST7L_uc001ece.3_Missense_Mutation_p.F194I|ST7L_uc001ecg.3_Non-coding_Transcript|ST7L_uc010owi.2_Missense_Mutation_p.F129I|ST7L_uc001ech.3_Missense_Mutation_p.F177I|ST7L_uc001eci.3_Missense_Mutation_p.F194I|ST7L_uc009wgi.1_Non-coding_Transcript|ST7L_uc010owj.1_Missense_Mutation_p.F177I NM_017744 NP_060214 Q8TDW4 ST7L_HUMAN Homo sapiens suppression of tumorigenicity 7 like (ST7L), transcript variant 1, mRNA. 194 negative regulation of cell growth integral to membrane binding endometrium(1)|kidney(4)|large_intestine(3)|lung(1)|prostate(2)|stomach(1)|urinary_tract(3) 15 Lung SC(450;0.246) all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CAGGTGAAAAAGGTCTGATGG 0.363000 22 32 0 0 1 0 0 CD1A 909 broad.mit.edu 37 1 158227293 158227293 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:158227293G>A uc001frt.3 + 4 1499 c.966G>A c.(964-966)agG>agA p.R322R CD1A_uc021pbk.1_Non-coding_Transcript NM_001763 NP_001754 P06126 CD1A_HUMAN Homo sapiens CD1a molecule (CD1A), mRNA. 322 antigen processing and presentation|immune response MHC class I protein complex|endosome membrane|integral to plasma membrane NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1) 32 all_hematologic(112;0.0378) Antithymocyte globulin(DB00098) TTTGGTTCAGGAAACGCTGGT 0.463000 203 42 0 0 1 0 0 ADAMTS2 9509 broad.mit.edu 37 5 178585775 178585775 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 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 0.607000 118 29 0 0 1 0 0 ZNF488 118738 broad.mit.edu 37 10 48371163 48371163 + Missense_Mutation SNP A C C TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr10:48371163A>C uc001jex.3 + 1 793 c.631A>C c.(631-633)Aag>Cag p.K211Q ZNF488_uc021ppx.1_Missense_Mutation_p.K211Q NM_153034 NP_694579 Q96MN9 ZN488_HUMAN Homo sapiens zinc finger protein 488 (ZNF488), mRNA. 211 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2) 14 TTCAACTCCCAAGCTTTTGGT 0.537000 8 49 0 0 1 0 0 ATP4A 495 broad.mit.edu 37 19 36050055 36050055 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr19:36050055C>T uc002oal.1 - 7 1124 c.1095G>A c.(1093-1095)aaG>aaA p.K365K ATP4A_uc010eee.1_5'Flank NM_000704 NP_000695 P20648 ATP4A_HUMAN Homo sapiens ATPase, H+/K+ exchanging, alpha polypeptide (ATP4A), mRNA. 365 ATP biosynthetic process|ATP hydrolysis coupled proton transport integral to plasma membrane ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 53 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831) CCACGCAGTTCTTACTGGCCA 0.627000 99 101 0 0 1 0 0 GRB14 2888 broad.mit.edu 37 2 165476271 165476271 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr2:165476271C>T uc002ucl.3 - 1 791 c.250G>A c.(250-252)Gag>Aag p.E84K NM_004490 NP_004481 Q14449 GRB14_HUMAN Homo sapiens growth factor receptor-bound protein 14 (GRB14), mRNA. 84 blood coagulation|leukocyte migration Golgi membrane|cytosol|endosome membrane|microsome|plasma membrane SH3/SH2 adaptor activity breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 32 CAGCATAGCTCAGGAAAAGGG 0.338000 33 33 0 0 1 0 0 PKDREJ 10343 broad.mit.edu 37 22 46655763 46655763 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr22:46655763G>A uc003bhh.3 - 0 3457 c.3457C>T c.(3457-3459)Cac>Tac p.H1153Y NM_006071 NP_006062 Q9NTG1 PKDRE_HUMAN Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA. 1153 acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 73 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) GTATGCAGGTGAATGCCCGTG 0.512000 136 49 0 0 1 0 0 CREBRF 153222 broad.mit.edu 37 5 172518054 172518054 + Missense_Mutation SNP C T T rs150982426 TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr5:172518054C>T uc003mch.3 + 3 1191 c.872C>T c.(871-873)cCt>cTt p.P291L CREBRF_uc003mcf.3_Missense_Mutation_p.P291L|CREBRF_uc003mcg.3_Missense_Mutation_p.P291L|CREBRF_uc011dfd.1_Missense_Mutation_p.P291L NM_153607 NP_705835 Q8IUR6 CE041_HUMAN Homo sapiens chromosome 5 open reading frame 41 (C5orf41), transcript variant 1, mRNA. 291 protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity CCCGCTTTGCCTTTTAAAGAA 0.512000 45 32 0 0 1 0 0 IL20 50604 broad.mit.edu 37 1 207040734 207040734 + Silent SNP C A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:207040734C>A uc001her.3 + 3 428 c.384C>A c.(382-384)gcC>gcA p.A128A IL20_uc009xby.3_Intron NM_018724 NP_061194 Q9NYY1 IL20_HUMAN Homo sapiens interleukin 20 (IL20), mRNA. 128 positive regulation of keratinocyte differentiation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of inflammatory response extracellular space cytokine activity|interleukin-20 receptor binding endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)|urinary_tract(1) 9 Breast(84;0.201) OV - Ovarian serous cystadenocarcinoma(81;0.00459) TTCAGCATGCCCACATGACAT 0.408000 69 50 9.52127e-25 9.80187e-25 1 1 0 BPIFB4 149954 broad.mit.edu 37 20 31671623 31671623 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr20:31671623G>A uc010zue.2 + 2 635 c.620G>A c.(619-621)gGt>gAt p.G207D NM_182519 NP_872325 P59827 LPLC4_HUMAN Homo sapiens BPI fold containing family B, member 4 (BPIFB4), mRNA. 207 Gly-rich. cytoplasm|extracellular region lipid binding GGAGGAGGGGGTGTCCTGGGC 0.642000 45 43 0 0 1 0 0 ITGB8 3696 broad.mit.edu 37 7 20418793 20418793 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr7:20418793G>A uc003suu.3 + 3 1213 c.508G>A c.(508-510)Gga>Aga p.G170R ITGB8_uc011jyh.2_Missense_Mutation_p.G35R|ITGB8_uc003sut.3_Missense_Mutation_p.G170R NM_002214 NP_002205 P26012 ITB8_HUMAN Homo sapiens integrin, beta 8 (ITGB8), mRNA. 170 VWFA. cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development integrin complex protein binding|receptor activity p.V169G(1) NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1) 37 AAATTCCGTTGGAAACGATTT 0.348000 39 8 0 0 1 0 0 MCTP1 79772 broad.mit.edu 37 5 94134754 94134754 + Missense_Mutation SNP C G G TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr5:94134754C>G uc003kkx.2 - 17 2520 c.2520G>C c.(2518-2520)ttG>ttC p.L840F MCTP1_uc003kkv.2_Missense_Mutation_p.L619F|MCTP1_uc003kkw.2_Intron|MCTP1_uc003kkz.2_Missense_Mutation_p.L501F|MCTP1_uc003kku.2_Missense_Mutation_p.L356F NM_024717 NP_078993 Q6DN14 MCTP1_HUMAN Homo sapiens multiple C2 domains, transmembrane 1 (MCTP1), transcript variant L, mRNA. 840 calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1) 41 all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207) all cancers(79;9.1e-17) CTGATATTATCAAGAAGTAGT 0.383000 32 14 0 0 1 0 0 TEX15 56154 broad.mit.edu 37 8 30700164 30700164 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr8:30700164G>A uc003xil.3 - 0 6370 c.6370C>T c.(6370-6372)Ctt>Ttt p.L2124F NM_031271 NP_112561 Q9BXT5 TEX15_HUMAN Homo sapiens testis expressed 15 (TEX15), mRNA. 2124 NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 138 KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111) ACTTTCCAAAGGCAAACATCT 0.343000 45 11 0 0 1 0 0 DIO3 1735 broad.mit.edu 37 14 102028607 102028607 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr14:102028607C>T uc021sdx.1 + 0 920 c.774C>T c.(772-774)ttC>ttT p.F258F DIO3AS_uc001ykd.1_5'Flank|DIO3OS_uc001yke.3_5'Flank|DIO3AS_uc001ykf.3_5'Flank|DIO3AS_uc001ykg.3_5'Flank|DIO3AS_uc001ykh.3_5'Flank|DIO3AS_uc021sdw.1_5'Flank NM_001362 NP_001353 P55073 IOD3_HUMAN Homo sapiens deiodinase, iodothyronine, type III (DIO3), mRNA. 232 cellular nitrogen compound metabolic process|hormone biosynthetic process endosome membrane|integral to membrane|plasma membrane thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1) 22 all_neural(303;0.185) GCGCCTACTTCGAGCGTCTCT 0.632000 45 43 0 0 1 0 0 HGFAC 3083 broad.mit.edu 37 4 3443794 3443794 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr4:3443794C>T uc003ghc.3 + 0 69 c.66C>T c.(64-66)ctC>ctT p.L22L HGFAC_uc010icw.3_Silent_p.L22L NM_001528 NP_001519 Q04756 HGFA_HUMAN Homo sapiens HGF activator (HGFAC), mRNA. 22 proteolysis extracellular space protein binding|serine-type endopeptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 22 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) TCCTCCTCCTCCTCCTGCTGC 0.721000 30 39 0 0 1 0 0 ABCA12 26154 broad.mit.edu 37 2 215821417 215821417 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr2:215821417C>T uc002vew.3 - 41 6423 c.6203G>A c.(6202-6204)gGc>gAc p.G2068D ABCA12_uc002vev.3_Missense_Mutation_p.G1750D|ABCA12_uc010zjn.2_Missense_Mutation_p.G995D NM_173076 NP_775099 Q86UK0 ABCAC_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA. 2068 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) AGATACAGCGCCTAGGTTGTT 0.373000 53 12 0 0 1 0 0 FAM161A 84140 broad.mit.edu 37 2 62081062 62081062 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr2:62081062G>A uc002sbm.4 - 0 217 c.115C>T c.(115-117)Ctg>Ttg p.L39L FAM161A_uc002sbn.4_5'UTR|FAM161A_uc010ypo.2_Silent_p.L39L|FAM161A_uc010fcm.1_Non-coding_Transcript|FAM161A_uc010fcn.1_5'UTR NM_001201543 NP_001188472 Q3B820 F161A_HUMAN Homo sapiens family with sequence similarity 161, member A (FAM161A), transcript variant 1, mRNA. 39 response to stimulus|visual perception centrosome breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 GCTGCCGCCAGGGCCTTTAAG 0.647000 30 37 0 0 1 0 0 TOX 9760 broad.mit.edu 37 8 59728274 59728274 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr8:59728274C>T uc003xtw.1 - 6 1236 c.1015G>A c.(1015-1017)Gaa>Aaa p.E339K NM_014729 NP_055544 O94900 TOX_HUMAN Homo sapiens thymocyte selection-associated high mobility group box (TOX), mRNA. 339 nucleus DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1) 33 all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607) TCAACAGGTTCACTGTAGCTC 0.493000 48 31 0 0 1 0 0 TPTE2 93492 broad.mit.edu 37 13 20012290 20012290 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr13:20012290C>T uc001umd.3 - 14 1188 c.977G>A c.(976-978)aGa>aAa p.R326K TPTE2_uc009zzk.3_Non-coding_Transcript|TPTE2_uc009zzl.3_Missense_Mutation_p.R215K|TPTE2_uc001ume.3_Missense_Mutation_p.R249K|TPTE2_uc009zzm.3_5'UTR|TPTE2_uc010tcm.2_Non-coding_Transcript|TPTE2_uc010tcl.2_5'UTR NM_199254 NP_954863 Q6XPS3 TPTE2_HUMAN Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA. 326 Phosphatase tensin-type. 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) AGTCCCGGTTCttcctagaaa 0.338000 42 22 0 0 1 0 0 F5 2153 broad.mit.edu 37 1 169511093 169511093 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:169511093G>A uc001ggg.1 - 12 3380 c.3235C>T c.(3235-3237)Ccc>Tcc p.P1079S NM_000130 NP_000121 P12259 FA5_HUMAN Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA. 1079 B. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1) 128 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) AGGTCTGTGGGAAGAGATGTT 0.433000 190 76 0 0 1 0 0 GLRA3 8001 broad.mit.edu 37 4 175598363 175598363 + Missense_Mutation SNP G C C TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr4:175598363G>C uc003ity.1 - 6 1296 c.793C>G c.(793-795)Ctc>Gtc p.L265V GLRA3_uc003itz.1_Missense_Mutation_p.L265V NM_006529 NP_006520 O75311 GLRA3_HUMAN Homo sapiens glycine receptor, alpha 3 (GLRA3), transcript variant 1, mRNA. 265 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 35 Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107) all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421) Glycine(DB00145) ACAATCAGGAGACTGGGAATG 0.453000 30 22 0 0 1 0 0 SETBP1 26040 broad.mit.edu 37 18 42532439 42532439 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr18:42532439G>A uc010dni.3 + 3 3430 c.3134G>A c.(3133-3135)gGa>gAa p.G1045E NM_015559 NP_056374 Q9Y6X0 SETBP_HUMAN Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA. 1045 nucleus DNA binding NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 104 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) ATTCCCAGTGGAAGTTACTAT 0.458000 Schinzel-Giedion syndrome 21 9 0 0 1 0 0 CEACAM16 388551 broad.mit.edu 37 19 45211155 45211155 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr19:45211155C>T uc010xxd.2 + 5 1169 c.963C>T c.(961-963)atC>atT p.I321I NM_001039213 NP_001034302 A7LI12 A7LI12_HUMAN Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 16 (CEACAM16), mRNA. 321 endometrium(3)|large_intestine(2)|lung(3)|ovary(1) 9 Lung NSC(12;0.000698)|all_lung(12;0.002) Prostate(69;0.0376)|Ovarian(192;0.231) CCACGATGATCGTGCCCGTGC 0.652000 15 6 0 0 1 0 0 WBSCR17 64409 broad.mit.edu 37 7 70853227 70853227 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr7:70853227G>A uc003tvy.3 + 2 429 c.429G>A c.(427-429)aaG>aaA p.K143K WBSCR17_uc003tvz.3_5'UTR NM_022479 NP_071924 Q6IS24 GLTL3_HUMAN Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA. 143 Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 100 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) CCAGGTGTAAGGAGCTCAAGT 0.527000 37 35 0 0 1 0 0 SLC25A51 92014 broad.mit.edu 37 9 37888379 37888379 + Nonsense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr9:37888379G>A uc022bgx.1 - 0 169 c.169C>T c.(169-171)Cga>Tga p.R57* SLC25A51_uc004aaq.1_Intron|SLC25A51_uc004aar.1_Intron|DQ590189_uc004aat.2_5'Flank|SLC25A51_uc004aav.2_Nonsense_Mutation_p.R57* NM_033412 NP_219480 Q9H1U9 MCAR1_HUMAN Homo sapiens mitochondrial carrier triple repeat 1 (MCART1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 57 transport integral to membrane|mitochondrial inner membrane p.R57*(1) AGCTGTTGTCGAAAGAGGACC 0.438000 55 21 0 0 1 0 0 CRP 1401 broad.mit.edu 37 1 159683514 159683514 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:159683514G>A uc001ftw.3 - 1 580 c.476C>T c.(475-477)tCc>tTc p.S159F CRP_uc001ftx.1_Intron|CRP_uc001fty.1_Non-coding_Transcript NM_000567 NP_000558 P02741 CRP_HUMAN Homo sapiens C-reactive protein, pentraxin-related (CRP), mRNA. 159 Pentaxin. acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization Gram-positive bacterial cell surface binding|choline binding|low-density lipoprotein particle binding|metal ion binding|protein binding breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1) 22 all_hematologic(112;0.0429) Atorvastatin(DB01076)|Bezafibrate(DB01393) CCCACCGAAGGAATCCTGCTC 0.522000 259 292 0 0 1 0 0 GLRA4 441509 broad.mit.edu 37 X 102978824 102978824 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chrX:102978824G>A uc011mse.2 - 4 958 c.537C>T c.(535-537)ttC>ttT p.F179F GLRA4_uc010nou.2_Silent_p.F179F NM_001024452 NP_001019623 Q5JXX5 GLRA4_HUMAN Homo sapiens glycine receptor, alpha 4 (GLRA4), transcript variant 1, mRNA. 179 cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 TGTCCATGGGGAAGTTCTTGA 0.507000 7 49 0 0 1 0 0 CMTM8 152189 broad.mit.edu 37 3 32409437 32409437 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr3:32409437C>T uc003cex.3 + 2 689 c.395C>T c.(394-396)cCt>cTt p.P132L CMTM8_uc010hfu.3_Missense_Mutation_p.P74L NM_178868 NP_849199 Q8IZV2 CKLF8_HUMAN Homo sapiens CKLF-like MARVEL transmembrane domain containing 8 (CMTM8), mRNA. 132 MARVEL. chemotaxis extracellular space|integral to membrane cytokine activity breast(1)|endometrium(1)|kidney(1)|lung(1) 4 TCCGTCTCCCCTGAGAGGGAC 0.582000 26 20 0 0 1 0 0 CXADRP3 440224 broad.mit.edu 37 18 14479183 14479183 + RNA SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr18:14479183C>T uc010xai.2 - 2 c.381G>A Homo sapiens coxsackie virus and adenovirus receptor pseudogene 3 (CXADRP3), non-coding RNA. CTTTTTCAATCATCTGCTCAG 0.532000 20 16 0 0 1 0 0 PPA2 27068 broad.mit.edu 37 4 106307755 106307755 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr4:106307755G>A uc003hxl.3 - 9 928 c.908C>T c.(907-909)aCt>aTt p.T303I PPA2_uc003hxn.3_Missense_Mutation_p.T274I|PPA2_uc003hxo.3_Missense_Mutation_p.T201I|PPA2_uc003hxp.3_Missense_Mutation_p.T137I|PPA2_uc003hxq.3_Missense_Mutation_p.T210I NM_176869 NP_789845 Q9H2U2 IPYR2_HUMAN Homo sapiens pyrophosphatase (inorganic) 2 (PPA2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 303 diphosphate metabolic process|tRNA aminoacylation for protein translation mitochondrial matrix inorganic diphosphatase activity|magnesium ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|pancreas(1) 11 Myeloproliferative disorder(5;0.0255)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;2.03e-07) TTCCTCTTGAGTGCAACGGAA 0.358000 13 11 0 0 1 0 0 CHL1 10752 broad.mit.edu 37 3 391158 391158 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr3:391158G>A uc003bot.3 + 9 1607 c.965G>A c.(964-966)gGa>gAa p.G322E CHL1_uc003bou.3_Missense_Mutation_p.G306E|CHL1_uc003bow.2_Missense_Mutation_p.G306E|CHL1_uc011asi.2_Missense_Mutation_p.G322E NM_006614 NP_006605 O00533 CHL1_HUMAN Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA. 306 Ig-like C2-type 3. axon guidance|cell adhesion|signal transduction integral to membrane|plasma membrane|proteinaceous extracellular matrix NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1) 93 all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201) Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198) CAGGACAAAGGAAATTATCGC 0.413000 34 26 0 0 1 0 0 LILRB5 10990 broad.mit.edu 37 19 54756398 54756398 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr19:54756398G>A uc010yer.1 - 9 1573 c.1462C>T c.(1462-1464)Cct>Tct p.P488S LILRB3_uc002qew.2_Intron|LILRB5_uc002qey.3_Missense_Mutation_p.P497S|LILRB5_uc002qez.3_Missense_Mutation_p.P397S|LILRB5_uc002qex.3_Missense_Mutation_p.P496S|LILRB5_uc002qfa.1_3'UTR O75023 LIRB5_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 (LILRB5), transcript variant 1, mRNA. 496 cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity p.P496T(1)|p.P488S(1)|p.P496S(1)|p.P488T(1) NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GCCCCTGCAGGACGGTAGAAA 0.597000 42 34 0 0 1 0 0 DCBLD2 131566 broad.mit.edu 37 3 98520451 98520451 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr3:98520451G>A uc003dte.3 - 13 2076 c.1713C>T c.(1711-1713)gaC>gaT p.D571D DCBLD2_uc003dtd.3_Silent_p.D571D NM_080927 NP_563615 Q96PD2 DCBD2_HUMAN Homo sapiens discoidin, CUB and LCCL domain containing 2 (DCBLD2), mRNA. 571 cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing cell surface|integral to plasma membrane breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2) 25 TACCTGCCCGGTCCCAGTAAG 0.458000 11 8 0 0 1 0 0 RRNAD1 51093 broad.mit.edu 37 1 156702139 156702140 + Missense_Mutation DNP CC TT TT rs147288369 TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:156702139_156702140CC>TT uc001fpu.3 + 2 937_938 c.303_304CC>TT c.(301-306)acccgg>acTTgg p.R102W RRNAD1_uc001fpv.3_Missense_Mutation_p.R102W NM_015997 NP_057081 Q96FB5 RRNAD_HUMAN Homo sapiens ribosomal RNA adenine dimethylase domain containing 1 (RRNAD1), transcript variant 1, mRNA. 102 integral to membrane rRNA (adenine-N6,N6-)-dimethyltransferase activity NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3) 9 TGGCCTTTACCCGGATGCCTGG 0.594000 90 8 0 0 1 0 0 PGBD1 84547 broad.mit.edu 37 6 28268779 28268779 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr6:28268779C>T uc003nky.3 + 6 1568 c.1148C>T c.(1147-1149)tCa>tTa p.S383L PGBD1_uc003nkz.3_Missense_Mutation_p.S383L NM_032507 NP_115896 Q96JS3 PGBD1_HUMAN Homo sapiens piggyBac transposable element derived 1 (PGBD1), transcript variant 2, mRNA. 383 viral reproduction membrane|nucleus scavenger receptor activity|sequence-specific DNA binding transcription factor activity endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 41 TTAAAGGTATCATGTTTCCCA 0.433000 101 34 0 0 1 0 0 ORC2 4999 broad.mit.edu 37 2 201796153 201796153 + Missense_Mutation SNP A T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr2:201796153A>T uc002uwr.3 - 10 1097 c.826T>A c.(826-828)Ttg>Atg p.L276M NM_006190 NP_006181 Q13416 ORC2_HUMAN Homo sapiens origin recognition complex, subunit 2 (ORC2), transcript variant 1, mRNA. 276 DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|negative regulation of transcription from RNA polymerase II promoter nuclear origin of replication recognition complex|nucleoplasm DNA replication origin binding|protein binding p.L276L(1) breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 20 ACCTTGCTCAATAAGTTACGC 0.338000 35 10 0 0 1 0 0 ADAM28 10863 broad.mit.edu 37 8 24207384 24207384 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr8:24207384C>T uc003xdy.3 + 18 2081 c.1998C>T c.(1996-1998)tcC>tcT p.S666S ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_Silent_p.S353S NM_014265 NP_055080 Q9UKQ2 ADA28_HUMAN Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA. 666 proteolysis|spermatogenesis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Prostate(55;0.0959) Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175) CAGACTTCTCCATTGTGGTTG 0.493000 95 75 0 0 1 0 0 TRGV3 6976 broad.mit.edu 37 7 38398403 38398403 + Silent SNP A G G TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr7:38398403A>G uc003tgr.2 - 1 167 c.64T>C c.(64-66)Ttg>Ctg p.L22L LOC100506776_uc003tgp.2_Intron RecName: Full=T-cell receptor gamma chain V region PT-gamma-1/2; Flags: Precursor; CTCCCTTCCAAGTTGGAAGAT 0.433000 56 44 0 0 1 0 0 UBA5 79876 broad.mit.edu 37 3 132384834 132384834 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr3:132384834C>T uc003epa.4 + 2 456 c.214C>T c.(214-216)Cgt>Tgt p.R72C NPHP3_uc003eoz.1_Intron|UBA5_uc010htr.3_Missense_Mutation_p.R16C|UBA5_uc003epb.4_Missense_Mutation_p.R16C NM_024818 NP_938143 Q9GZZ9 UBA5_HUMAN Homo sapiens ubiquitin-like modifier activating enzyme 5 (UBA5), transcript variant 1, mRNA. 72 protein ufmylation aggresome|cytoplasm|nucleus ATP binding|UFM1 activating enzyme activity|cofactor binding|metal ion binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding p.R72H(1) breast(2)|endometrium(4)|kidney(4)|large_intestine(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 ACAGAAAATCCGTACCTTTGC 0.333000 17 11 0 0 1 0 0 CALB2 794 broad.mit.edu 37 16 71418718 71418718 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr16:71418718G>A uc002faa.4 + 8 686 c.606G>A c.(604-606)gcG>gcA p.A202A CALB2_uc010vme.2_Non-coding_Transcript|CALB2_uc002fac.4_Intron NM_001740 NP_001731 P22676 CALB2_HUMAN Homo sapiens calbindin 2 (CALB2), transcript variant CALB2, mRNA. 202 EF-hand 5. calcium ion binding NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 18 Ovarian(137;0.125) AGTTTAACGCGATCTTCACAT 0.522000 137 45 0 0 1 0 0 STK4 6789 broad.mit.edu 37 20 43607151 43607151 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr20:43607151C>T uc002xnb.3 + 2 274 c.184C>T c.(184-186)Cct>Tct p.P62S STK4_uc010ggx.3_Missense_Mutation_p.P62S|STK4_uc010ggy.3_Missense_Mutation_p.P62S|STK4_uc010ggw.1_Missense_Mutation_p.P62S NM_006282 NP_006273 Q13043 STK4_HUMAN Homo sapiens serine/threonine kinase 4 (STK4), mRNA. 62 Protein kinase. apoptosis|cell morphogenesis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of apoptosis|protein autophosphorylation cytoplasm|nucleus ATP binding|magnesium ion binding|protein homodimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity|transcription factor binding p.V61F(1) NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2) 20 Myeloproliferative disorder(115;0.0122) TAAGCAAGTTCCTGTGGAATC 0.408000 65 29 0 0 1 0 0 TIGD4 201798 broad.mit.edu 37 4 153691655 153691655 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr4:153691655G>A uc003imy.3 - 1 1323 c.502C>T c.(502-504)Cct>Tct p.P168S TIGD4_uc021xtf.1_Missense_Mutation_p.P168S NM_145720 NP_663772 Q8IY51 TIGD4_HUMAN Homo sapiens tigger transposable element derived 4 (TIGD4), mRNA. 168 regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding|chromatin binding breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2) 26 all_hematologic(180;0.093) AAATAATAAGGAAGTACATTT 0.348000 59 7 0 0 1 0 0 PCDHB1 29930 broad.mit.edu 37 5 140433458 140433458 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr5:140433458G>A uc003lik.1 + 0 2480 c.2403G>A c.(2401-2403)agG>agA p.R801R NM_013340 NP_037472 Q9Y5F3 PCDB1_HUMAN Homo sapiens protocadherin beta 1 (PCDHB1), mRNA. 801 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.D800E(1) NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 53 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ATTCTGATAGGAATAAGTCTC 0.438000 72 28 0 0 1 0 0 CNGB3 54714 broad.mit.edu 37 8 87679211 87679211 + Missense_Mutation SNP A C C TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr8:87679211A>C uc003ydx.3 - 5 842 c.794T>G c.(793-795)cTt>cGt p.L265R CNGB3_uc010maj.3_Missense_Mutation_p.L127R NM_019098 NP_061971 Q9NQW8 CNGB3_HUMAN Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA. 265 signal transduction|visual perception integral to membrane cGMP binding NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 80 CATATCATAAAGGTAGATGAT 0.423000 36 22 0 0 1 0 0 GABRB1 2560 broad.mit.edu 37 4 47408877 47408878 + Missense_Mutation DNP AA TC TC TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr4:47408877_47408878AA>TC uc003gxh.3 + 7 1388_1389 c.1014_1015AA>TC c.(1012-1017)aaaaag>aaTCag p.338_339KK>NQ GABRB1_uc011bze.2_Missense_Mutation_p.268_269KK>NQ NM_000812 NP_000803 P18505 GBRB1_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 1 (GABRB1), mRNA. 338 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) GCCCTCAGAAAAAGGGAGCTAG 0.381000 62 12 0 0 1 0 0 RASSF10 644943 broad.mit.edu 37 11 13032416 13032416 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr11:13032416C>T uc021qdz.1 + 0 1447 c.1293C>T c.(1291-1293)ggC>ggT p.G431G NM_001080521 NP_001073990 A6NK89 RASFA_HUMAN Homo sapiens Ras association (RalGDS/AF-6) domain family (N-terminal) member 10 (RASSF10), mRNA. 431 signal transduction Epithelial(150;0.00399) AGCTACAGGGCCTTCTGCAAA 0.612000 27 13 0 0 1 0 0 MAP1LC3B 81631 broad.mit.edu 37 16 87432463 87432463 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr16:87432463C>T uc002fjx.3 + 1 316 c.83C>T c.(82-84)cCa>cTa p.P28L MAP1LC3B_uc010chs.3_Non-coding_Transcript NM_022818 NP_073729 Q9GZQ8 MLP3B_HUMAN Homo sapiens microtubule-associated protein 1 light chain 3 beta (MAP1LC3B), mRNA. 28 autophagy autophagic vacuole membrane|cytoplasmic vesicle|endomembrane system|microtubule protein binding endometrium(1)|lung(2) 3 BRCA - Breast invasive adenocarcinoma(80;0.0249) GAGCAGCATCCAACCAAAATC 0.483000 41 46 0 0 1 0 0 AARSD1 80755 broad.mit.edu 37 17 41131445 41131445 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr17:41131445C>T uc010whg.2 - 2 614 c.268G>A c.(268-270)Gga>Aga p.G90R AARSD1_uc002icd.3_Missense_Mutation_p.G29R|AARSD1_uc002ich.3_Missense_Mutation_p.G52R|AARSD1_uc010whh.2_Missense_Mutation_p.G90R|RUNDC1_uc021txw.1_5'Flank|RUNDC1_uc002ici.1_5'Flank NM_001136042 NP_079543 Q9BTE6 AASD1_HUMAN Homo sapiens alanyl-tRNA synthetase domain containing 1 (AARSD1), transcript variant 1, mRNA. 0 alanyl-tRNA aminoacylation cytoplasm ATP binding|alanine-tRNA ligase activity|metal ion binding|nucleic acid binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|skin(1) 17 Breast(137;0.00499) BRCA - Breast invasive adenocarcinoma(366;0.161) AACTCCACTCCATCGGCATTC 0.512000 294 73 0 0 1 0 0 NPC1L1 29881 broad.mit.edu 37 7 44578460 44578460 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr7:44578460C>T uc003tlb.3 - 1 1592 c.1536G>A c.(1534-1536)caG>caA p.Q512Q NPC1L1_uc011kbw.2_Silent_p.Q512Q|NPC1L1_uc003tlc.3_Silent_p.Q512Q|NPC1L1_uc003tld.3_Silent_p.Q512Q NM_013389 NP_037521 Q9UHC9 NPCL1_HUMAN Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA. 512 cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 57 Ezetimibe(DB00973) CTTGGGAGGTCTGCCCCATCA 0.592000 85 61 0 0 1 0 0 HDGFRP2 84717 broad.mit.edu 37 19 4491833 4491833 + Splice_Site SNP G T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr19:4491833G>T uc002mao.3 + 6 771 c.678_splice c.e6+1 p.K226_splice HDGFRP2_uc002map.3_Splice_Site_p.K226_splice|HDGFRP2_uc010dtz.1_Splice_Site NM_001001520 NP_001001520 Q7Z4V5 HDGR2_HUMAN Homo sapiens hepatoma-derived growth factor-related protein 2 (HDGFRP2), transcript variant 1, mRNA. 226 Ser-rich. transcription, DNA-dependent nucleus DNA binding|protein binding GAAAAAAAAGGTAGCGTGCAC 0.632000 56 31 8.88839e-20 9.08571e-20 1 1 0 PCSK6 5046 broad.mit.edu 37 15 101872132 101872132 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr15:101872132G>A uc002bxa.2 - 14 2274 c.1960C>T c.(1960-1962)Cca>Tca p.P654S PCSK6_uc010bpd.3_Missense_Mutation_p.P451S|PCSK6_uc002bwy.3_Missense_Mutation_p.P654S|PCSK6_uc010bpe.3_Missense_Mutation_p.P651S|PCSK6_uc002bxb.2_Missense_Mutation_p.P654S NM_138320 NP_612193 P29122 PCSK6_HUMAN Homo sapiens proprotein convertase subtilisin/kexin type 6 (PCSK6), transcript variant 7, mRNA. 655 glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell Golgi lumen|cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|membrane|soluble fraction eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505) OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) TCCAGCTCTGGGGCTGAGAGC 0.562000 31 7 0 0 1 0 0 HES6 55502 broad.mit.edu 37 2 239147677 239147677 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr2:239147677G>A uc002vxz.3 - 3 601 c.466C>T c.(466-468)Cct>Tct p.P156S HES6_uc002vya.3_Missense_Mutation_p.P154S|HES6_uc002vyb.2_3'UTR NM_018645 NP_061115 Q96HZ4 HES6_HUMAN Homo sapiens hairy and enhancer of split 6 (Drosophila) (HES6), transcript variant 1, mRNA. 156 cell differentiation transcription factor complex DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity lung(1)|skin(1) 2 Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182) Epithelial(121;3.23e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.29e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.19e-08)|BRCA - Breast invasive adenocarcinoma(100;5.98e-05)|Lung(119;0.0086)|LUSC - Lung squamous cell carcinoma(224;0.0148) CTCCGTCCAGGGGCTCTAGGT 0.716000 18 11 0 0 1 0 0 PCBP4 57060 broad.mit.edu 37 3 51994626 51994626 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr3:51994626G>A uc003dcc.2 - 2 790 c.69C>T c.(67-69)tcC>tcT p.S23S PCBP4_uc003dcb.2_Silent_p.S23S|PCBP4_uc003dcf.2_Silent_p.S57S|PCBP4_uc003dce.2_Silent_p.S57S|PCBP4_uc003dcg.2_Silent_p.S23S|PCBP4_uc003dcj.2_Silent_p.S57S|PCBP4_uc003dck.2_Silent_p.S57S|PCBP4_uc003dch.2_Silent_p.S57S|PCBP4_uc003dci.2_5'UTR P57723 PCBP4_HUMAN Homo sapiens poly(rC) binding protein 4 (PCBP4), transcript variant 4, mRNA. 57 KH 1. cytoplasm|ribonucleoprotein complex DNA binding|RNA binding endometrium(2)|large_intestine(2)|lung(2)|prostate(1)|stomach(1) 8 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) GTTCAGGGCAGGAGCCCTCGG 0.597000 44 18 0 0 1 0 0 PAPPA2 60676 broad.mit.edu 37 1 176738853 176738853 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:176738853C>T uc001gkz.3 + 15 5598 c.4434C>T c.(4432-4434)tcC>tcT p.S1478S PAPPA2_uc009www.3_Non-coding_Transcript NM_020318 NP_064714 Q9BXP8 PAPP2_HUMAN Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA. 1478 Sushi 2. cell differentiation|proteolysis|regulation of cell growth extracellular region|intracellular|membrane metalloendopeptidase activity|zinc ion binding NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1) 226 CAAACTTCTCCTGCTCAGAGG 0.522000 85 78 0 0 1 0 0 CTDP1 9150 broad.mit.edu 37 18 77474697 77474698 + Missense_Mutation DNP CC AT AT TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr18:77474697_77474698CC>AT uc002lnh.2 + 7 1384_1385 c.1237_1238CC>AT c.(1237-1239)ccc>ATc p.P413I CTDP1_uc002lni.2_Missense_Mutation_p.P413I|CTDP1_uc010drd.2_Missense_Mutation_p.P413I|CTDP1_uc021ult.1_Missense_Mutation_p.P294I NM_004715 NP_001189433 Q9Y5B0 CTDP1_HUMAN Homo sapiens CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 (CTDP1), transcript variant 1, mRNA. 413 positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm CTD phosphatase activity|DNA-directed RNA polymerase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1) 35 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277) TGCCCAGGCCCCCACCAGCAGC 0.752000 9 8 0 0 1 0 0 CDH24 64403 broad.mit.edu 37 14 23524557 23524557 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr14:23524557G>A uc001wil.3 - 2 467 c.207C>T c.(205-207)caC>caT p.H69H CDH24_uc010akf.3_Silent_p.H69H|CDH24_uc001win.3_Silent_p.H69H NM_022478 NP_071923 Q86UP0 CAD24_HUMAN Homo sapiens cadherin 24, type 2 (CDH24), transcript variant 1, mRNA. 69 Cadherin 1. adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion cell-cell junction|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding p.L68L(1) breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 26 all_cancers(95;3.3e-05) GBM - Glioblastoma multiforme(265;0.00654) CAACATCCGAGTGCAGCTGCA 0.567000 OREG0022594 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 33 5 0 0 1 0 0 TRIM45 80263 broad.mit.edu 37 1 117654930 117654930 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:117654930G>A uc001egz.2 - 5 2328 c.1740C>T c.(1738-1740)ctC>ctT p.L580L TRIM45_uc009whe.2_Silent_p.L562L NM_025188 NP_079464 Q9H8W5 TRI45_HUMAN Homo sapiens tripartite motif containing 45 (TRIM45), transcript variant 1, mRNA. 580 cytoplasm|nucleus zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|prostate(1) 23 Lung SC(450;0.225) all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389) Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187) AAACCCATCAGAGAGCCACAG 0.478000 22 32 0 0 1 0 0 ABCB5 340273 broad.mit.edu 37 7 20785055 20785055 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr7:20785055C>T uc010kuh.3 + 25 3660 c.3423C>T c.(3421-3423)ctC>ctT p.L1141L ABCB5_uc003suw.4_Silent_p.L696L NM_001163941 NP_848654 Q2M3G0 ABCB5_HUMAN Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA. 696 regulation of membrane potential Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1) 77 TTGAAGGTCTCCCTGAGGTAA 0.408000 30 26 0 0 1 0 0 SPG11 80208 broad.mit.edu 37 15 44925831 44925831 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr15:44925831C>T uc001ztx.3 - 7 1638 c.1607G>A c.(1606-1608)gGg>gAg p.G536E SPG11_uc010ueh.2_Missense_Mutation_p.G536E|SPG11_uc010uei.2_Missense_Mutation_p.G536E|SPG11_uc001zua.1_Missense_Mutation_p.G536E NM_025137 NP_079413 Q96JI7 SPTCS_HUMAN Homo sapiens spastic paraplegia 11 (autosomal recessive) (SPG11), transcript variant 1, mRNA. 536 cell death cytosol|integral to membrane|nucleus protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 72 all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122) all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214) ATTTTCTATCCCGGCCTGAAA 0.303000 17 9 0 0 1 0 0 ZCCHC17 51538 broad.mit.edu 37 1 31821753 31821753 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:31821753G>A uc001bsp.1 + 6 632 c.496G>A c.(496-498)Gaa>Aaa p.E166K ZCCHC17_uc001bsq.1_Missense_Mutation_p.E158K|ZCCHC17_uc010ogf.1_Missense_Mutation_p.E168K|ZCCHC17_uc009vtu.1_Missense_Mutation_p.E142K|ZCCHC17_uc001bsr.1_Missense_Mutation_p.E166K|ZCCHC17_uc009vtv.1_Missense_Mutation_p.E142K NM_016505 NP_057589 Q9NP64 NO40_HUMAN Homo sapiens zinc finger, CCHC domain containing 17 (ZCCHC17), mRNA. 166 Poly-Glu. nucleolus RNA binding|zinc ion binding breast(1)|kidney(1)|large_intestine(2)|ovary(1)|skin(1) 6 Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)|all_neural(195;0.146)|Medulloblastoma(700;0.151)|Breast(348;0.222) STAD - Stomach adenocarcinoma(196;0.0215)|READ - Rectum adenocarcinoma(331;0.168) AGAGGAAAAGGAAGAGGCAAA 0.403000 40 18 0 0 1 0 0 LPA 4018 broad.mit.edu 37 6 160999712 160999712 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr6:160999712C>T uc003qtl.3 - 27 4434 c.4314G>A c.(4312-4314)agG>agA p.R1438R NM_005577 NP_005568 P08519 APOA_HUMAN Homo sapiens lipoprotein, Lp(a) (LPA), mRNA. 3946 Kringle 13. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) CATCTGGATTCCTGCAGTAGT 0.502000 40 12 0 0 1 0 0 ZNF420 147923 broad.mit.edu 37 19 37619601 37619601 + Missense_Mutation SNP C A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr19:37619601C>A uc002ofl.3 + 4 1923 c.1708C>A c.(1708-1710)Cgt>Agt p.R570S NM_144689 NP_653290 Q8TAQ5 ZN420_HUMAN Homo sapiens zinc finger protein 420 (ZNF420), mRNA. 570 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|large_intestine(9)|lung(10)|prostate(1)|skin(3) 27 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) AGCCTTTATTCGTGGTTCACA 0.438000 27 36 2.05212e-20 2.10192e-20 1 1 0 MYH11 4629 broad.mit.edu 37 16 15851849 15851849 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr16:15851849G>A uc002ddx.3 - 13 1538 c.1431C>T c.(1429-1431)tcC>tcT p.S477S MYH11_uc002ddv.3_Silent_p.S477S|MYH11_uc002ddw.3_Silent_p.S470S|MYH11_uc002ddy.3_Silent_p.S470S|MYH11_uc010bvg.3_Silent_p.S302S|MYH11_uc002dea.1_Silent_p.S176S NM_001040114 NP_001035203 P35749 MYH11_HUMAN Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA. 470 Myosin head-like. axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1) 123 GCTGCTCGAAGGAGTTCACCT 0.597000 T CBFB AML 75 22 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A T T rs121913377 TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 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 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 29 35 0 0 1 0 0 FAM53A 152877 broad.mit.edu 37 4 1643071 1643071 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr4:1643071G>A uc021xkk.1 - 4 1344 c.1146C>T c.(1144-1146)gtC>gtT p.V382V FAM53A_uc010ibw.3_3'UTR|FAM53A_uc021xkl.1_Silent_p.V382V NM_001013622 NP_001167541 Q6NSI3 FA53A_HUMAN Homo sapiens family with sequence similarity 53, member A (FAM53A), transcript variant 1, mRNA. 382 nucleus breast(2)|central_nervous_system(2)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 all_epithelial(65;0.206)|Breast(71;0.212) OV - Ovarian serous cystadenocarcinoma(23;0.0145) CCCGGGGGAAGACGCCCTCCT 0.701000 89 30 0 0 1 0 0 APC 324 broad.mit.edu 37 5 112175096 112175096 + Missense_Mutation SNP A T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr5:112175096A>T uc003kpz.4 + 16 3998 c.3805A>T c.(3805-3807)Ata>Tta p.I1269L APC_uc011cvt.2_Missense_Mutation_p.I1251L|APC_uc003kpy.4_Missense_Mutation_p.I1269L|APC_uc010jbz.3_Missense_Mutation_p.I986L|APC_uc010jca.3_Missense_Mutation_p.I569L NM_001127510 NP_001120982 P25054 APC_HUMAN Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA. 1269 Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich. canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|adherens junction|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity p.I1269fs*19(2)|p.K1192fs*3(1)|p.?(1)|p.I1269fs*6(1) NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20) 3261 all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133) OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191) AGATACTCCAATATGTTTTTC 0.378000 12 """D, Mis, N, F, S""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis TSP Lung(16;0.13) 30 18 0 0 1 0 0 KRT37 8688 broad.mit.edu 37 17 39579051 39579051 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr17:39579051G>A uc002hwp.1 - 2 758 c.711C>T c.(709-711)tcC>tcT p.S237S NM_003770 NP_003761 O76014 KRT37_HUMAN Homo sapiens keratin 37 (KRT37), mRNA. 237 Coil 1B.|Rod. intermediate filament structural molecule activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3) 25 Breast(137;0.000496) TGCTCTTGAGGGAGAGCTGCT 0.687000 39 6 0 0 1 0 0 GCN1L1 10985 broad.mit.edu 37 12 120582578 120582578 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr12:120582578G>A uc001txo.3 - 40 5230 c.5217C>T c.(5215-5217)atC>atT p.I1739I NM_006836 NP_006827 Q92616 GCN1L_HUMAN Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA. 1739 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CTGTAGCCACGATTTCTGGCA 0.507000 149 122 0 0 1 0 0 PCSK5 5125 broad.mit.edu 37 9 78947496 78947496 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr9:78947496G>A uc004akc.2 + 32 5175 c.4637G>A c.(4636-4638)gGa>gAa p.G1546E NM_001190482 NP_001177411 Q92824 PCSK5_HUMAN Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA. 714 anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release Golgi lumen|extracellular space|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 TTCCAGCTAGGAAAAGAGTGC 0.537000 5 3 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13914711 13914711 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr5:13914711G>A uc003jfd.2 - 9 1280 c.1238C>T c.(1237-1239)aCc>aTc p.T413I DNAH5_uc003jfe.1_Non-coding_Transcript NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 413 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TCCATTATTGGTAATATAGGC 0.363000 Kartagener syndrome 46 28 0 0 1 0 0 SLC6A7 6534 broad.mit.edu 37 5 149582207 149582208 + Missense_Mutation DNP CC TT TT rs146367975 TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr5:149582207_149582208CC>TT uc003lrr.3 + 7 1399_1400 c.1028_1029CC>TT c.(1027-1029)tcc>tTT p.S343F NM_014228 NP_055043 Q99884 SC6A7_HUMAN Homo sapiens solute carrier family 6 (neurotransmitter transporter, L-proline), member 7 (SLC6A7), mRNA. 343 integral to plasma membrane|membrane fraction neurotransmitter:sodium symporter activity|proline:sodium symporter activity p.S343F(2) NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1) 16 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) L-Proline(DB00172) GCCATCTTCTCCGTGCTGGGCT 0.599000 37 16 0 0 1 0 0 SNX1 6642 broad.mit.edu 37 15 64422134 64422134 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr15:64422134C>T uc002amv.3 + 8 957 c.827C>T c.(826-828)aCc>aTc p.T276I SNX1_uc010bgv.3_5'UTR|SNX1_uc010uio.2_Missense_Mutation_p.T276I|SNX1_uc002amx.3_Missense_Mutation_p.T211I|SNX1_uc010bgw.3_Missense_Mutation_p.T178I NM_003099 NP_003090 Q13596 SNX1_HUMAN Homo sapiens sorting nexin 1 (SNX1), transcript variant 1, mRNA. 276 cell communication|early endosome to Golgi transport|endocytosis|intracellular protein transport Golgi apparatus|early endosome membrane phosphatidylinositol binding|protein binding|protein transporter activity p.T276T(1) breast(1)|endometrium(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 13 GCCGTGGGTACCCAGACATTG 0.473000 64 38 0 0 1 0 0 COL12A1 1303 broad.mit.edu 37 6 75840603 75840603 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr6:75840603C>T uc021zbv.1 - 34 6067 c.6032G>A c.(6031-6033)gGa>gAa p.G2011E COL12A1_uc021zbw.1_Missense_Mutation_p.G847E|COL12A1_uc003phs.3_Missense_Mutation_p.G2011E|COL12A1_uc003pht.3_Missense_Mutation_p.G847E NM_004370 NP_004361 Q99715 COCA1_HUMAN Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA. 2011 Fibronectin type-III 15. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 ATTTCCCTCTCCATCCGAGTA 0.552000 64 19 0 0 1 0 0 ANAPC2 29882 broad.mit.edu 37 9 140077625 140077625 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr9:140077625G>A uc004clr.1 - 5 1311 c.1238C>T c.(1237-1239)tCc>tTc p.S413F ANAPC2_uc004clq.1_Missense_Mutation_p.S269F NM_013366 NP_037498 Q9UJX6 ANC2_HUMAN Homo sapiens anaphase promoting complex subunit 2 (ANAPC2), mRNA. 413 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity anaphase-promoting complex|cytosol|nucleoplasm ubiquitin protein ligase binding|ubiquitin-protein ligase activity breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 15 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858) GATGACCATGGAAGGGTCCAG 0.622000 61 39 0 0 1 0 0 ZCWPW2 152098 broad.mit.edu 37 3 28562503 28562503 + Missense_Mutation SNP T G G TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr3:28562503T>G uc003ceh.3 + 8 973 c.805T>G c.(805-807)Tta>Gta p.L269V ZCWPW2_uc003cei.3_Missense_Mutation_p.L269V|ZCWPW2_uc010hfo.3_Missense_Mutation_p.L74V NM_001040432 NP_001035522 Q504Y3 ZCPW2_HUMAN Homo sapiens zinc finger, CW type with PWWP domain 2 (ZCWPW2), mRNA. 269 zinc ion binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(6)|ovary(2) 17 GACGGAAGTTTTACTAAAAGA 0.378000 27 8 0 0 1 0 0 OR2T10 127069 broad.mit.edu 37 1 248756403 248756403 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:248756403G>A uc010pzn.2 - 0 667 c.667C>T c.(667-669)Ctc>Ttc p.L223F NM_001004693 NP_001004693 Q8NGZ9 O2T10_HUMAN Homo sapiens olfactory receptor, family 2, subfamily T, member 10 (OR2T10), mRNA. 223 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1) 26 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TGGATGGTGAGGATGATATAG 0.458000 114 33 0 0 1 0 0 FAM113B 91523 broad.mit.edu 37 12 47629874 47629874 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr12:47629874C>T uc001rpq.3 + 1 1553 c.1028C>T c.(1027-1029)tCc>tTc p.S343F FAM113B_uc001rpn.3_Missense_Mutation_p.S343F|FAM113B_uc021qxi.1_Missense_Mutation_p.S343F NM_138371 NP_612380 Q96HM7 F113B_HUMAN Homo sapiens family with sequence similarity 113, member B (FAM113B), mRNA. 343 Pro-rich. hydrolase activity p.S343F(2) NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(10) 35 Renal(347;0.138)|Lung SC(27;0.192) GCCTGTTTTTCCTCAGACCAT 0.542000 141 84 0 0 1 0 0 BC035867 0 broad.mit.edu 37 22 20977101 20977101 + RNA SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr22:20977101G>A uc002zsv.3 - 4 c.1434C>T Homo sapiens, clone IMAGE:5171202, mRNA. CCAGGCTGCCGAAAATGCTAC 0.602000 15 3 0 0 1 0 0 LRBA 987 broad.mit.edu 37 4 151827028 151827028 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr4:151827028G>A uc010ipj.3 - 12 1961 c.1717C>T c.(1717-1719)Ctt>Ttt p.L573F LRBA_uc003ilu.4_Missense_Mutation_p.L573F|LRBA_uc010ipk.1_Missense_Mutation_p.L492F NM_006726 NP_006717 P50851 LRBA_HUMAN Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA. 573 Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosome|plasma membrane protein binding breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 all_hematologic(180;0.151) GGATTAAGAAGAACGTGATCA 0.383000 39 33 0 0 1 0 0 OR52A1 23538 broad.mit.edu 37 11 5173505 5173505 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr11:5173505G>A uc010qyy.2 - 0 95 c.95C>T c.(94-96)cCa>cTa p.P32L NM_012375 NP_036507 Q9UKL2 O52A1_HUMAN Homo sapiens olfactory receptor, family 52, subfamily A, member 1 (OR52A1), mRNA. 32 sensory perception of smell integral to plasma membrane olfactory receptor activity breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 19 Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189) Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGCACAGAATGGAATCCCAAT 0.448000 30 21 0 0 1 0 0 ST3GAL1 6482 broad.mit.edu 37 8 134478159 134478159 + Missense_Mutation SNP C G G TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr8:134478159C>G uc003yuk.2 - 5 1310 c.481G>C c.(481-483)Gac>Cac p.D161H ST3GAL1_uc003yum.2_Missense_Mutation_p.D161H NM_173344 NP_775479 Q11201 SIA4A_HUMAN Homo sapiens ST3 beta-galactoside alpha-2,3-sialyltransferase 1 (ST3GAL1), transcript variant 2, mRNA. 161 protein glycosylation Golgi cisterna membrane|extracellular region|integral to Golgi membrane beta-galactoside alpha-2,3-sialyltransferase activity endometrium(3)|large_intestine(2)|lung(11)|prostate(1) 17 all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.00721) TCGTGACTGTCTATCTCAGGC 0.612000 86 42 0 0 1 0 0 KLK4 9622 broad.mit.edu 37 19 51410300 51410300 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr19:51410300C>T uc002pua.1 - 4 655 c.655G>A c.(655-657)Ggc>Agc p.G219S KLK4_uc002pty.1_3'UTR|KLK4_uc002ptz.1_Non-coding_Transcript|KLK4_uc002pub.1_Missense_Mutation_p.G124S|KLK4_uc002puc.1_Non-coding_Transcript NM_004917 NP_004908 Q9Y5K2 KLK4_HUMAN Homo sapiens kallikrein-related peptidase 4 (KLK4), mRNA. 219 Peptidase S1. proteolysis extracellular region metal ion binding|serine-type endopeptidase activity autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8) 19 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878) GACACAAGGCCCTGCAAGTAC 0.532000 67 25 0 0 1 0 0 FAM123C 205147 broad.mit.edu 37 2 131520787 131520787 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr2:131520787C>T uc021voy.1 + 0 1142 c.1142C>T c.(1141-1143)tCc>tTc p.S381F FAM123C_uc002trw.2_Missense_Mutation_p.S381F|FAM123C_uc010fmv.2_Missense_Mutation_p.S381F|FAM123C_uc010fms.1_Missense_Mutation_p.S381F|FAM123C_uc010fmt.1_Missense_Mutation_p.S381F|FAM123C_uc010fmu.1_Missense_Mutation_p.S381F NM_152698 NP_689911 Q8N944 F123C_HUMAN Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA. 381 p.V380M(1) breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8) 73 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.13) GAATCCGTGTCCACAAGTGAC 0.637000 30 37 0 0 1 0 0 EIF4A1 1973 broad.mit.edu 37 17 7476169 7476169 + Missense_Mutation SNP A T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr17:7476169A>T uc002gho.2 + 11 2573 c.10A>T c.(10-12)Agc>Tgc p.S4C EIF4A1_uc002ghr.1_Missense_Mutation_p.S4C|SNORA48_uc002ghs.1_5'Flank NM_001416 NP_001407 P60842 IF4A1_HUMAN Homo sapiens eukaryotic translation initiation factor 4A1 (EIF4A1), transcript variant 1, mRNA. 4 nuclear-transcribed mRNA poly(A) tail shortening cytosol|eukaryotic translation initiation factor 4F complex ATP binding|ATP-dependent helicase activity|RNA cap binding|mRNA binding|protein binding|translation initiation factor activity NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 22 CATGTCTGCGAGCCAGGATTC 0.617000 146 60 0 0 1 0 0 ASXL3 80816 broad.mit.edu 37 18 31319761 31319761 + Missense_Mutation SNP C A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr18:31319761C>A uc010dmg.1 + 10 2448 c.2393C>A c.(2392-2394)aCc>aAc p.T798N ASXL3_uc002kxq.2_Missense_Mutation_p.T505N NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA. 798 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 GAGAACCTTACCTCCCAGCAG 0.473000 21 9 0.000978159 0.000982037 1 1 0 LENG8 114823 broad.mit.edu 37 19 54965730 54965730 + Missense_Mutation SNP C T T rs143651422 TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr19:54965730C>T uc002qfv.1 + 4 581 c.437C>T c.(436-438)cCt>cTt p.P146L LENG8_uc002qfw.2_Missense_Mutation_p.P183L Q96PV6 LENG8_HUMAN Homo sapiens leukocyte receptor cluster (LRC) member 8 (LENG8), mRNA. 146 protein binding breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 30 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.139) AACAGTGGCCCTCAGCCTGGG 0.677000 15 17 0 0 1 0 0 OSMR 9180 broad.mit.edu 37 5 38881793 38881793 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr5:38881793G>A uc003jln.2 + 3 747 c.345G>A c.(343-345)aaG>aaA p.K115K OSMR_uc003jlm.2_Silent_p.K115K NM_003999 NP_003990 Q99650 OSMR_HUMAN Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA. 115 cell proliferation|positive regulation of cell proliferation oncostatin-M receptor complex growth factor binding|oncostatin-M receptor activity p.I114L(1) NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 46 all_lung(31;0.000365) TAAGAATAAAGAGTTTGGTGG 0.488000 49 41 0 0 1 0 0 EIF2C2 27161 broad.mit.edu 37 8 141559346 141559346 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr8:141559346G>A uc003yvn.3 - 11 1496 c.1455C>T c.(1453-1455)atC>atT p.I485I EIF2C2_uc010meo.3_Silent_p.I485I|EIF2C2_uc010men.3_Silent_p.I408I NM_012154 NP_036286 Q9UKV8 AGO2_HUMAN Homo sapiens eukaryotic translation initiation factor 2C, 2 (EIF2C2), transcript variant 1, mRNA. 485 mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent RNA-induced silencing complex|cytoplasmic mRNA processing body|cytosol|mRNA cap binding complex|micro-ribonucleoprotein complex|nucleus|polysome RNA 7-methylguanosine cap binding|endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|siRNA binding|translation initiation factor activity p.P484A(1) NS(1)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1) 33 all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155) Breast(495;0.159) BRCA - Breast invasive adenocarcinoma(115;0.158) GCTGGCCCTGGATGGGCATGC 0.622000 26 26 0 0 1 0 0 CD53 963 broad.mit.edu 37 1 111434035 111434035 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:111434035G>A uc001dzw.3 + 2 176 c.5G>A c.(4-6)gGc>gAc p.G2D CD53_uc001dzx.3_Missense_Mutation_p.G2D|CD53_uc010owa.2_Missense_Mutation_p.G2D NM_001040033 NP_001035122 P19397 CD53_HUMAN Homo sapiens CD53 molecule (CD53), transcript variant 1, mRNA. 2 signal transduction integral to membrane|plasma membrane p.M1I(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6) 17 all_cancers(81;1.06e-05)|all_epithelial(167;1.95e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Lung(183;0.0264)|Colorectal(144;0.0375)|all cancers(265;0.11)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.141)|LUSC - Lung squamous cell carcinoma(189;0.144) CACGGCATGGGCATGAGTAGC 0.433000 15 15 0 0 1 0 0 COL4A4 1286 broad.mit.edu 37 2 227907859 227907859 + Nonsense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr2:227907859G>A uc021vxr.1 - 34 3432 c.3331C>T c.(3331-3333)Caa>Taa p.Q1111* COL4A4_uc021vxs.1_Nonsense_Mutation_p.Q1111* NM_000092 NP_000083 P53420 CO4A4_HUMAN Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA. 1111 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) CTGGGCCCTTGAATACCAGGC 0.527000 25 10 0 0 1 0 0 SPTAN1 6709 broad.mit.edu 37 9 131346081 131346081 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr9:131346081G>A uc004bvl.4 + 15 2168 c.2026G>A c.(2026-2028)Gaa>Aaa p.E676K SPTAN1_uc011mbg.2_Missense_Mutation_p.E676K|SPTAN1_uc011mbh.2_Missense_Mutation_p.E688K|SPTAN1_uc004bvm.4_Missense_Mutation_p.E676K|SPTAN1_uc004bvn.4_Missense_Mutation_p.E676K NM_003127 NP_003118 Q13813 SPTA2_HUMAN Homo sapiens spectrin, alpha, non-erythrocytic 1 (alpha-fodrin) (SPTAN1), transcript variant 2, mRNA. 676 actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 87 AAAGCTTCGTGAAGCCAACCA 0.398000 43 11 0 0 1 0 0 ADAM23 8745 broad.mit.edu 37 2 207412196 207412196 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr2:207412196G>A uc002vbq.3 + 6 987 c.764G>A c.(763-765)gGa>gAa p.G255E ADAM23_uc010ziv.2_Non-coding_Transcript NM_003812 NP_003803 O75077 ADA23_HUMAN Homo sapiens ADAM metallopeptidase domain 23 (ADAM23), mRNA. 255 cell adhesion|central nervous system development|proteolysis extracellular region|integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 51 LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205) ACCTTGGCAGGACAGTATTCT 0.348000 42 7 0 0 1 0 0 DSG3 1830 broad.mit.edu 37 18 29039067 29039067 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr18:29039067G>A uc002kws.3 + 4 553 c.444G>A c.(442-444)ttG>ttA p.L148L NM_001944 NP_001935 P32926 DSG3_HUMAN Homo sapiens desmoglein 3 (DSG3), mRNA. 148 Cadherin 1. cellular component disassembly involved in apoptosis|homophilic cell adhesion cytosol|desmosome|integral to membrane calcium ion binding breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(10;0.00504) TTAAAATTTTGGATATTAATG 0.353000 13 7 0 0 1 0 0 DCDC2 51473 broad.mit.edu 37 6 24301982 24301982 + Missense_Mutation SNP A G G TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr6:24301982A>G uc003ndx.3 - 3 820 c.518T>C c.(517-519)gTc>gCc p.V173A DCDC2_uc003ndy.3_Missense_Mutation_p.V173A NM_016356 NP_057440 Q9UHG0 DCDC2_HUMAN Homo sapiens doublecortin domain containing 2 (DCDC2), transcript variant 1, mRNA. 173 Doublecortin 2. cellular defense response|intracellular signal transduction|neuron migration breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 Ovarian(999;0.101) TTTTTCTGTGACCATTTGTAG 0.423000 225 90 0 0 1 0 0 ARHGAP18 93663 broad.mit.edu 37 6 129950593 129950593 + Missense_Mutation SNP T C C TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr6:129950593T>C uc003qbr.3 - 4 780 c.691A>G c.(691-693)Aac>Gac p.N231D ARHGAP18_uc011ebw.2_Missense_Mutation_p.N231D|ARHGAP18_uc021zfe.1_Missense_Mutation_p.N228D NM_033515 NP_277050 Q8N392 RHG18_HUMAN Homo sapiens Rho GTPase activating protein 18 (ARHGAP18), mRNA. 231 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3) 18 OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074) ACCTCCAGGTTGATGTCTGTT 0.527000 53 57 0 0 1 0 0 ALDOC 230 broad.mit.edu 37 17 26902186 26902186 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr17:26902186G>A uc002hbp.3 - 2 424 c.279C>T c.(277-279)ccC>ccT p.P93P NM_005165 NP_005156 P09972 ALDOC_HUMAN Homo sapiens aldolase C, fructose-bisphosphate (ALDOC), mRNA. 93 fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis cytosol cytoskeletal protein binding|fructose-bisphosphate aldolase activity breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1) 11 Lung NSC(42;0.00431) TTCGGACGAAGGGAACACCAT 0.517000 OREG0024278 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 24 27 0 0 1 0 0 ALPK3 57538 broad.mit.edu 37 15 85411370 85411370 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr15:85411370C>T uc002ble.3 + 13 5574 c.5407C>T c.(5407-5409)Cct>Tct p.P1803S ALPK3_uc010upc.2_Missense_Mutation_p.P104S NM_020778 NP_065829 Q96L96 ALPK3_HUMAN Homo sapiens alpha-kinase 3 (ALPK3), mRNA. 1803 Alpha-type protein kinase. heart development nucleus ATP binding|protein serine/threonine kinase activity p.P1803L(1) NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 BRCA - Breast invasive adenocarcinoma(143;0.0587) AAGCTGCTTCCCTGCCCTGCT 0.652000 155 41 0 0 1 0 0 ANP32D 23519 broad.mit.edu 37 12 48866728 48866728 + Missense_Mutation SNP A G G TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr12:48866728A>G uc010slt.2 + 0 281 c.281A>G c.(280-282)aAt>aGt p.N94S NM_012404 NP_036536 O95626 AN32D_HUMAN Homo sapiens acidic (leucine-rich) nuclear phosphoprotein 32 family, member D (ANP32D), mRNA. 94 central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 9 ATACATCTAAATTTAAGTGGC 0.403000 46 38 0 0 1 0 0 MUM1L1 139221 broad.mit.edu 37 X 105450598 105450598 + Missense_Mutation SNP A T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chrX:105450598A>T uc022cca.1 + 0 1173 c.1173A>T c.(1171-1173)gaA>gaT p.E391D MUM1L1_uc004emg.2_Missense_Mutation_p.E391D|MUM1L1_uc004emf.2_Missense_Mutation_p.E391D NM_001171020 NP_001164491 Q5H9M0 MUML1_HUMAN Homo sapiens melanoma associated antigen (mutated) 1-like 1 (MUM1L1), transcript variant 1, mRNA. 391 autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 31 ATCCGTTTGAAACAGGAATGA 0.368000 5 23 0 0 1 0 0 ELMO3 79767 broad.mit.edu 37 16 67234605 67234605 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr16:67234605C>T uc002esa.3 + 6 761 c.718C>T c.(718-720)Ccc>Tcc p.P240S ELMO3_uc002esb.3_Missense_Mutation_p.P223S|ELMO3_uc002esc.3_Missense_Mutation_p.P74S NM_024712 NP_078988 Q96BJ8 ELMO3_HUMAN Homo sapiens engulfment and cell motility 3 (ELMO3), mRNA. 187 apoptosis|phagocytosis cytoplasm|cytoskeleton SH3 domain binding cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3) 18 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417) CTCCGTGCCTCCCCTGGCCCT 0.642000 55 23 0 0 1 0 0 PMS2P3 5387 broad.mit.edu 37 7 75145485 75145485 + RNA SNP T A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr7:75145485T>A uc022agi.1 - 2 c.680A>T PMS2P3_uc003udq.3_Non-coding_Transcript|PMS2P3_uc022agj.1_Non-coding_Transcript Homo sapiens postmeiotic segregation increased 2 pseudogene 3 (PMS2P3), non-coding RNA. lung(1) 1 CTCATCAGGGTCCAGTTGCCG 0.483000 58 45 0 0 1 0 0 CCP110 9738 broad.mit.edu 37 16 19547373 19547373 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr16:19547373C>T uc002dgl.4 + 3 629 c.382C>T c.(382-384)Cca>Tca p.P128S CCP110_uc002dgk.4_Missense_Mutation_p.P128S NM_001199022 NP_001185951 O43303 CP110_HUMAN Homo sapiens centriolar coiled coil protein 110kDa (CCP110), transcript variant 1, mRNA. 128 CEP97 binding. G2/M transition of mitotic cell cycle|centriole replication|regulation of cytokinesis centriole|cytosol protein binding breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|stomach(3)|urinary_tract(1) 21 AAATAGCTTTCCAAGCCATAC 0.393000 24 22 0 0 1 0 0 INHBB 3625 broad.mit.edu 37 2 121106889 121106889 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr2:121106889C>T uc002tmn.2 + 1 709 c.663C>T c.(661-663)ctC>ctT p.L221L NM_002193 NP_002184 P09529 INHBB_HUMAN Homo sapiens inhibin, beta B (INHBB), mRNA. 221 activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation extracellular region|perinuclear region of cytoplasm cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2) 15 Prostate(154;0.122) GGGTGGACCTCAAGCGCAGCG 0.627000 73 88 0 0 1 0 0 CCDC27 148870 broad.mit.edu 37 1 3669280 3669280 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:3669280C>T uc001akv.2 + 0 316 c.235C>T c.(235-237)Cgg>Tgg p.R79W NM_152492 NP_689705 Q2M243 CCD27_HUMAN Homo sapiens coiled-coil domain containing 27 (CCDC27), mRNA. 79 p.R79R(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2) 36 all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218) all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127) Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203) CCGGGACGCCCGGTGCCCAGA 0.632000 35 18 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9091430 9091430 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr19:9091430G>A uc002mkp.3 - 0 589 c.385C>T c.(385-387)Cca>Tca p.P129S NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 129 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding p.S128S(1) NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CTGGTCCTTGGGGAACTCAAT 0.498000 67 44 0 0 1 0 0 CRLF2 64109 broad.mit.edu 37 X 1327743 1327744 + Nonsense_Mutation DNP CC TT TT TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chrX:1327743_1327744CC>TT uc004cpk.2 - 1 139_140 c.137_138GG>AA c.(136-138)tgg>tAA p.W46* CRLF2_uc022brt.1_Nonsense_Mutation_p.W46*|CRLF2_uc004cpl.2_Intron|CRLF2_uc022brs.1_Nonsense_Mutation_p.W46* NM_022148 NP_071431 Q9HC73 CRLF2_HUMAN Homo sapiens cytokine receptor-like factor 2 (CRLF2), transcript variant 1, mRNA. 46 extracellular region|integral to membrane|plasma membrane receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9) 20 all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186) TGCTGGCATTCCATGTCACCTG 0.505000 """Mis, T""" """P2RY8, IGH@""" """B-ALL, Downs associated ALL""" 59 89 0 0 1 0 0 CPNE9 151835 broad.mit.edu 37 3 9754472 9754472 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr3:9754472G>A uc021wst.1 + 8 676 c.505G>A c.(505-507)Gac>Aac p.D169N CPNE9_uc003bsd.3_Missense_Mutation_p.D168N NM_153635 NP_705899 Q8IYJ1 CPNE9_HUMAN Homo sapiens copine family member IX (CPNE9), mRNA. 169 C2 2. breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 16 Medulloblastoma(99;0.227) TGGGAAATCAGACCCCTTCCT 0.542000 76 31 0 0 1 0 0 SLC7A4 6545 broad.mit.edu 37 22 21383446 21383446 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr22:21383446G>A uc002zud.3 - 4 1874 c.1806C>T c.(1804-1806)tcC>tcT p.S602S SLC7A4_uc002zue.3_Silent_p.S602S NM_004173 NP_004164 O43246 CTR4_HUMAN Homo sapiens solute carrier family 7 (orphan transporter), member 4 (SLC7A4), mRNA. 602 cellular amino acid metabolic process integral to membrane basic amino acid transmembrane transporter activity breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2) 18 all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129) CGTAGTGTGTGGAGTTCAGCC 0.612000 30 5 0 0 1 0 0 ZNF274 10782 broad.mit.edu 37 19 58697121 58697121 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr19:58697121G>A uc002qrq.1 + 2 535 c.76G>A c.(76-78)Gaa>Aaa p.E26K ZNF274_uc010yhu.1_Non-coding_Transcript|ZNF274_uc010yhv.1_Intron|ZNF274_uc002qrr.1_Missense_Mutation_p.E26K|ZNF274_uc002qrs.1_Intron|ZNF274_uc010eum.1_5'UTR NM_133502 NP_598009 Q96GC6 ZN274_HUMAN Homo sapiens zinc finger protein 274 (ZNF274), transcript variant ZNF274c, mRNA. 26 KRAB 1. viral reproduction centrosome|nucleolus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding p.P25Q(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1) 21 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215) TTTTACCCCGGAAGAGTGGGG 0.507000 53 66 0 0 1 0 0 LY75-CD302 100526664 broad.mit.edu 37 2 160708728 160708728 + Missense_Mutation SNP A C C TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr2:160708728A>C uc002ubb.4 - 20 2941 c.2867T>G c.(2866-2868)aTt>aGt p.I956S LY75-CD302_uc010fos.3_Missense_Mutation_p.I956S|LY75-CD302_uc002ubc.4_Missense_Mutation_p.I956S NM_001198759 NP_001185688 O60449 LY75_HUMAN Homo sapiens LY75-CD302 readthrough (LY75-CD302), transcript variant 1, mRNA. 956 endocytosis|immune response|inflammatory response integral to plasma membrane receptor activity|sugar binding CTGAAAAGGAATCCATTGCTC 0.378000 16 25 0 0 1 0 0 GHR 2690 broad.mit.edu 37 5 42718722 42718722 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr5:42718722G>A uc021xxv.1 + 9 1271 c.1134G>A c.(1132-1134)gaG>gaA p.E378E GHR_uc003jmt.3_Silent_p.E371E|GHR_uc003jmu.3_Silent_p.E371E|GHR_uc003jmv.2_Silent_p.E371E|GHR_uc021xxw.1_Silent_p.E371E|GHR_uc021xxx.1_Silent_p.E371E|GHR_uc021xxy.1_Silent_p.E371E|GHR_uc021xxz.1_Silent_p.E371E|GHR_uc021xya.1_Silent_p.E371E|GHR_uc021xyb.1_3'UTR|GHR_uc021xyc.1_3'UTR|GHR_uc011cpq.2_Silent_p.E184E|GHR_uc021xyd.1_Silent_p.E349E NM_001242399 NP_001229328 P10912 GHR_HUMAN Homo sapiens growth hormone receptor (GHR), transcript variant 2, mRNA. 371 2-oxoglutarate metabolic process|JAK-STAT cascade|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Myeloproliferative disorder(839;0.00878) Pegvisomant(DB00082)|Somatropin recombinant(DB00052) GTGACCATGAGAAATCACATA 0.438000 86 67 0 0 1 0 0 PIK3C2G 5288 broad.mit.edu 37 12 18478005 18478005 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr12:18478005C>T uc001rdt.3 + 7 1361 c.1245C>T c.(1243-1245)ttC>ttT p.F415F PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Silent_p.F415F|PIK3C2G_uc010sic.2_Silent_p.F193F NM_004570 NP_004561 O75747 P3C2G_HUMAN Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA. 415 cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 66 Hepatocellular(102;0.194) AATATGACTTCCACCTGAAAT 0.299000 2 4 0 0 1 0 0 AZI1 22994 broad.mit.edu 37 17 79170756 79170756 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr17:79170756C>T uc002jzp.1 - 13 1956 c.1756G>A c.(1756-1758)Gcc>Acc p.A586T AZI1_uc002jzm.1_Missense_Mutation_p.A13T|AZI1_uc002jzn.1_Missense_Mutation_p.A583T|AZI1_uc002jzo.1_Missense_Mutation_p.A583T|AZI1_uc010wum.1_Missense_Mutation_p.A586T|AZI1_uc002jzq.3_5'Flank NM_014984 NP_055799 Q9UPN4 AZI1_HUMAN Homo sapiens 5-azacytidine induced 1 (AZI1), transcript variant 1, mRNA. 586 G2/M transition of mitotic cell cycle|cell differentiation|multicellular organismal development|spermatogenesis centrosome|cytosol|intracellular membrane-bounded organelle breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5) 36 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117) AGCAGCATGGCCTGCTTCTTC 0.687000 12 4 0 0 1 0 0 COBRA1 25920 broad.mit.edu 37 9 140151387 140151387 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr9:140151387G>A uc004cmm.4 + 3 681 c.478G>A c.(478-480)Gag>Aag p.E160K NM_015456 NP_056271 Q8WX92 NELFB_HUMAN Homo sapiens cofactor of BRCA1 (COBRA1), mRNA. 160 negative regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction cytoplasm|nucleoplasm protein binding endometrium(2)|large_intestine(5)|lung(5)|skin(3)|upper_aerodigestive_tract(1) 16 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.137) OV - Ovarian serous cystadenocarcinoma(145;9.42e-05)|Epithelial(140;0.000766) CTTCGGGGACGAGGTTTCCCC 0.552000 40 12 0 0 1 0 0 MSMB 4477 broad.mit.edu 37 10 51562362 51562363 + Missense_Mutation DNP CC TT TT TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr10:51562362_51562363CC>TT uc001jiq.3 + 3 339_340 c.307_308CC>TT c.(307-309)cca>TTa p.P103L PARG_uc001jih.3_Intron|TIMM23_uc010qha.2_Intron|TIMM23_uc001jin.3_Intron|TIMM23_uc010qhb.2_Intron|TIMM23_uc010qhc.2_Intron|MSMB_uc001jir.3_Nonsense_Mutation_p.Q68*|NCOA4_uc009xon.3_5'Flank|NCOA4_uc010qhd.2_5'Flank|NCOA4_uc001jis.4_5'Flank|NCOA4_uc010qhe.2_5'Flank|NCOA4_uc010qhf.2_5'Flank NM_002443 NP_002434 P08118 MSMB_HUMAN Homo sapiens microseminoprotein, beta- (MSMB), transcript variant PSP94, mRNA. 103 extracellular space|nucleus lung(4)|ovary(2)|prostate(1) 7 GAAGAAGGACCCAAAAAAGACC 0.465000 26 59 0 0 1 0 0 TEX19 400629 broad.mit.edu 37 17 80320086 80320086 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr17:80320086C>T uc002keq.3 + 1 370 c.60C>T c.(58-60)tcC>tcT p.S20S TEX19_uc021ufp.1_Silent_p.S20S NM_207459 NP_997342 Q8NA77 TEX19_HUMAN Homo sapiens testis expressed 19 (TEX19), mRNA. 20 nucleus breast(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1) 6 TCTACGCCTCCTGGATGTATC 0.547000 132 41 0 0 1 0 0 MPRIP 23164 broad.mit.edu 37 17 17034933 17034934 + Missense_Mutation DNP GG AT AT TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr17:17034933_17034934GG>AT uc002gqv.2 + 4 511_512 c.422_423GG>AT c.(421-423)tgg>tAT p.W141Y MPRIP_uc002gqu.2_Missense_Mutation_p.W141Y NM_015134 NP_055949 Q6WCQ1 MPRIP_HUMAN Homo sapiens myosin phosphatase Rho interacting protein (MPRIP), transcript variant 1, mRNA. 141 Interaction with F-actin (By similarity).|PH 1. cytoplasm|cytoskeleton actin binding biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 31 CTTCCCAGGTGGCTGGAGATGC 0.584000 29 25 0 0 1 0 0 INVS 27130 broad.mit.edu 37 9 103055064 103055064 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr9:103055064G>A uc004bap.1 + 13 2737 c.2525G>A c.(2524-2526)gGa>gAa p.G842E INVS_uc011lve.1_Missense_Mutation_p.G746E|INVS_uc004bao.1_Intron|INVS_uc004baq.1_Intron|INVS_uc004bar.1_Missense_Mutation_p.G746E|INVS_uc010mtb.1_Missense_Mutation_p.G516E NM_014425 NP_055240 Q9Y283 INVS_HUMAN Homo sapiens inversin (INVS), transcript variant 1, mRNA. 842 Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway cytoplasm|membrane|microtubule|nucleus|spindle calmodulin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 Acute lymphoblastic leukemia(62;0.056) AAGCTCACAGGAGGGCTCTAT 0.572000 41 16 0 0 1 0 0 ANKRD50 57182 broad.mit.edu 37 4 125590492 125590492 + Missense_Mutation SNP C T T rs111651064 byFrequency TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr4:125590492C>T uc010inw.3 - 3 4978 c.3940G>A c.(3940-3942)Ggg>Agg p.G1314R ANKRD50_uc011cgo.2_Missense_Mutation_p.G1135R NM_020337 NP_001161354 Q9ULJ7 ANR50_HUMAN Homo sapiens ankyrin repeat domain 50 (ANKRD50), transcript variant 1, mRNA. 1314 NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 55 GCAGCAGTCCCGGATTTGGCT 0.408000 104 58 0 0 1 0 0 OR6C2 341416 broad.mit.edu 37 12 55846815 55846815 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr12:55846815C>T uc001sgz.1 + 0 818 c.818C>T c.(817-819)tCa>tTa p.S273L NM_054105 NP_473446 Q9NZP2 OR6C2_HUMAN Homo sapiens olfactory receptor, family 6, subfamily C, member 2 (OR6C2), mRNA. 273 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 23 AAAGGAGTTTCAGTTCTTACT 0.418000 49 19 0 0 1 0 0 PPP1R1A 5502 broad.mit.edu 37 12 54975866 54975866 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr12:54975866C>T uc001sgg.2 - 4 468 c.297G>A c.(295-297)gaG>gaA p.E99E NM_006741 NP_006732 Q13522 PPR1A_HUMAN Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 1A (PPP1R1A), mRNA. 99 glycogen metabolic process|signal transduction protein binding|protein serine/threonine phosphatase inhibitor activity p.G98V(1) lung(2) 2 CCTCAGGTTCCTCTCCTTGCT 0.592000 34 18 0 0 1 0 0 MXRA5 25878 broad.mit.edu 37 X 3229307 3229307 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chrX:3229307C>T uc004crg.4 - 6 7094 c.6937G>A c.(6937-6939)Gaa>Aaa p.E2313K NM_015419 NP_056234 Q9NR99 MXRA5_HUMAN Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA. 2313 Ig-like C2-type 7. extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) ATCCCCACTTCGTTAAAGTAG 0.552000 12 122 0 0 1 0 0 OR6C70 390327 broad.mit.edu 37 12 55863875 55863875 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr12:55863875C>T uc010spn.2 - 0 48 c.48G>A c.(46-48)acG>acA p.T16T NM_001005499 NP_001005499 A6NIJ9 O6C70_HUMAN Homo sapiens olfactory receptor, family 6, subfamily C, member 70 (OR6C70), mRNA. 16 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 18 GAGAATTATCCGTCAGTCCCA 0.353000 27 15 0 0 1 0 0 TNRC6C 57690 broad.mit.edu 37 17 76046872 76046872 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr17:76046872C>T uc002jud.2 + 3 2329 c.1729C>T c.(1729-1731)Ccc>Tcc p.P577S TNRC6C_uc002juf.2_Missense_Mutation_p.P577S|TNRC6C_uc002jue.2_Missense_Mutation_p.P577S NM_018996 NP_061869 Q9HCJ0 TNR6C_HUMAN Homo sapiens trinucleotide repeat containing 6C (TNRC6C), transcript variant 2, mRNA. 577 Sufficient for interaction with argonaute family proteins. gene silencing by RNA|regulation of translation RNA binding|nucleotide binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973) GCCTCCAAAGCCCAAATCCCA 0.562000 35 39 0 0 1 0 0 CFHR1 3078 broad.mit.edu 37 1 196794654 196794654 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:196794654G>A uc001gtn.3 + 1 220 c.106G>A c.(106-108)Gaa>Aaa p.E36K CFH_uc021pgt.1_Intron|CFHR1_uc001gtm.3_Intron NM_002113 NP_002104 Q03591 FHR1_HUMAN Homo sapiens complement factor H-related 1 (CFHR1), mRNA. 36 Sushi 1. complement activation extracellular space NS(1)|kidney(1)|large_intestine(2)|lung(7) 11 TCTATATGATGAAGAAAAATA 0.294000 45 15 0 0 1 0 0 ZBTB2 57621 broad.mit.edu 37 6 151687339 151687339 + Nonsense_Mutation SNP C A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr6:151687339C>A uc003qoh.3 - 2 997 c.862G>T c.(862-864)Gaa>Taa p.E288* NM_020861 NP_065912 Q8N680 ZBTB2_HUMAN Homo sapiens zinc finger and BTB domain containing 2 (ZBTB2), mRNA. 288 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1) 12 BRCA - Breast invasive adenocarcinoma(37;0.175) OV - Ovarian serous cystadenocarcinoma(155;2.63e-11) ACGCGACTTTCTCCCTGTTGG 0.562000 74 36 2.42023e-17 2.47147e-17 1 1 0 PCDHGC5 56097 broad.mit.edu 37 5 140751263 140751263 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr5:140751263C>T uc003ljw.2 + 0 1302 c.1302C>T c.(1300-1302)tcC>tcT p.S434S 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_uc003ljy.2_5'Flank|PCDHGC5_uc011dat.2_Silent_p.S434S|PCDHGC5_uc011dau.2_5'Flank NM_018924 NP_061747 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily B, 3 (PCDHGB3), transcript variant 1, mRNA. 436 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.L434I(1) 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) CGCTCTCCTCCAGCAAGACCA 0.542000 114 98 0 0 1 0 0 SOCS6 9306 broad.mit.edu 37 18 67992581 67992581 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr18:67992581C>T uc002lkr.1 + 1 993 c.677C>T c.(676-678)cCt>cTt p.P226L SOCS6_uc010dqq.2_Missense_Mutation_p.P226L|SOCS6_uc021ulj.1_Missense_Mutation_p.P226L NM_004232 NP_004223 O14544 SOCS6_HUMAN Homo sapiens suppressor of cytokine signaling 6 (SOCS6), mRNA. 226 JAK-STAT cascade|defense response|negative regulation of signal transduction|regulation of growth cytoplasm NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2) 22 Esophageal squamous(42;0.129)|Colorectal(73;0.152) TATACTGTGCCTTTAGATGAG 0.498000 42 19 0 0 1 0 0 ZNF451 26036 broad.mit.edu 37 6 57033253 57033253 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr6:57033253C>T uc003pdm.1 + 14 3396 c.3172C>T c.(3172-3174)Ctt>Ttt p.L1058F ZNF451_uc003pdn.1_Missense_Mutation_p.L1010F|BC032020_uc003pdq.1_Intron NM_001031623 NP_001026794 Q9Y4E5 ZN451_HUMAN Homo sapiens zinc finger protein 451 (ZNF451), transcript variant 1, mRNA. 1058 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 Lung NSC(77;0.145) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) TAGAAGAAGTCTTGAGGAAAT 0.328000 48 15 0 0 1 0 0 ARSF 416 broad.mit.edu 37 X 3007612 3007612 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chrX:3007612C>T uc022brz.1 + 6 1042 c.906C>T c.(904-906)ttC>ttT p.F302F ARSF_uc004cre.2_Silent_p.F302F|ARSF_uc004crf.2_Silent_p.F302F NM_001201538 NP_001188467 P54793 ARSF_HUMAN Homo sapiens arylsulfatase F (ARSF), transcript variant 2, mRNA. 302 extracellular region arylsulfatase activity|metal ion binding p.D301N(1) NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2) 38 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) CGGACGATTTCACTGGCACCA 0.468000 10 83 0 0 1 0 0 PTPRF 5792 broad.mit.edu 37 1 44083488 44083488 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:44083488C>T uc001cjr.3 + 24 4617 c.4277C>T c.(4276-4278)cCc>cTc p.P1426L PTPRF_uc001cjs.3_Missense_Mutation_p.P1417L|PTPRF_uc001cju.3_Missense_Mutation_p.P815L|PTPRF_uc009vwt.3_Missense_Mutation_p.P986L|PTPRF_uc001cjv.3_Missense_Mutation_p.P897L|PTPRF_uc001cjw.3_Missense_Mutation_p.P652L NM_002840 NP_002831 P10586 PTPRF_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA. 1426 Tyrosine-protein phosphatase 1. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3) 72 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) ACGCAGGGCCCCCTGCCCGAG 0.592000 27 18 0 0 1 0 0 ABCB5 340273 broad.mit.edu 37 7 20689753 20689753 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr7:20689753G>A uc010kuh.3 + 11 1552 c.1315G>A c.(1315-1317)Gat>Aat p.D439N ABCB5_uc003suw.4_5'UTR|ABCB5_uc003suv.4_5'UTR|ABCB5_uc011jyi.1_5'UTR NM_001163941 NP_848654 Q2M3G0 ABCB5_HUMAN Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA. 623 ABC transmembrane type-1. regulation of membrane potential Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1) 77 GAGGTTATATGATCCGGATGA 0.493000 26 22 0 0 1 0 0 RET 5979 broad.mit.edu 37 10 43601940 43601940 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr10:43601940C>T uc001jal.3 + 4 1174 c.984C>T c.(982-984)acC>acT p.T328T RET_uc001jak.1_Silent_p.T328T|RET_uc010qez.1_Silent_p.T74T NM_020975 NP_066124 P07949 RET_HUMAN Homo sapiens ret proto-oncogene (RET), transcript variant 2, mRNA. 328 homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development integral to membrane ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity CCDC6/RET(4)|KIF5B/RET(79) NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1) 607 Ovarian(717;0.0423) Sunitinib(DB01268) CCCAGCAGACCTTCCGGGTGG 0.647000 1 """T, Mis, N, F""" """H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6""" """medullary thyroid, papillary thyroid, pheochromocytoma, NSCLC""" """medullary thyroid, papillary thyroid, pheochromocytoma""" Hirschsprung disease Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma 8 15 0 0 1 0 0 FER1L6 654463 broad.mit.edu 37 8 125094666 125094666 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr8:125094666G>A uc003yqw.3 + 32 4564 c.4358G>A c.(4357-4359)cGa>cAa p.R1453Q AK057332_uc003yqy.1_Intron NM_001039112 NP_001034201 Q2WGJ9 FR1L6_HUMAN Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA. 1453 integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) AGCAAACACCGAGCCATCTGT 0.498000 134 82 0 0 1 0 0 FBRS 64319 broad.mit.edu 37 16 30676364 30676364 + Missense_Mutation SNP A T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr16:30676364A>T uc002dzd.4 + 2 275 c.12A>T c.(10-12)aaA>aaT p.K4N FBRS_uc002dzc.4_Intron NM_001105079 NP_001098549 Q9HAH7 FBRS_HUMAN Homo sapiens fibrosin (FBRS), mRNA. 4 ovary(1) 1 Colorectal(24;0.103) AGTTTGAGAAATATCCAGGAA 0.567000 19 5 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 90049426 90049426 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr5:90049426C>T uc003kju.3 + 53 11253 c.11157C>T c.(11155-11157)atC>atT p.I3719I GPR98_uc003kjt.3_Silent_p.I1425I|GPR98_uc003kjv.3_Silent_p.I1319I NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA. 3719 Calx-beta 24. cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TGTCAACAATCACTCTAACTA 0.338000 68 34 0 0 1 0 0 NRD1 4898 broad.mit.edu 37 1 52290999 52290999 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:52290999G>A uc001ctc.4 - 7 1522 c.1200C>T c.(1198-1200)agC>agT p.S400S NRD1_uc009vzb.3_Silent_p.S95S|NRD1_uc001cte.3_Silent_p.S268S|NRD1_uc001ctd.4_Silent_p.S332S|NRD1_uc001ctf.2_Silent_p.S332S|NRD1_uc010ong.1_Non-coding_Transcript|NRD1_uc009vzc.1_Silent_p.S200S NM_002525 NP_001229290 O43847 NRDC_HUMAN Homo sapiens nardilysin (N-arginine dibasic convertase) (NRD1), transcript variant 1, mRNA. 331 cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity cell surface|cytosol epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1) 27 GTCTAGCAAGGCTTCCAAACA 0.299000 35 9 0 0 1 0 0 LILRP2 79166 broad.mit.edu 37 19 55221732 55221732 + RNA SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr19:55221732C>T uc002qgs.1 + 0 c.2132C>T LILRP2_uc002qgt.1_Intron Homo sapiens leukocyte immunoglobulin-like receptor pseudogene 2 (LILRP2), non-coding RNA. GGTGGGGGTCCCAAGGGAGGG 0.652000 11 3 0 0 1 0 0 JOSD2 126119 broad.mit.edu 37 19 51009680 51009680 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr19:51009680G>A uc002psn.1 - 3 453 c.422C>T c.(421-423)tCc>tTc p.S141F JOSD2_uc002psp.1_Missense_Mutation_p.S141F|JOSD2_uc002pso.1_Missense_Mutation_p.S141F|JOSD2_uc002psq.1_Missense_Mutation_p.S99F NM_138334 NP_612207 Q8TAC2 JOS2_HUMAN Homo sapiens Josephin domain containing 2 (JOSD2), mRNA. 141 Josephin. protein deubiquitination ubiquitin-specific protease activity kidney(1)|lung(3)|prostate(1) 5 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0364) CCGCAGCTTGGAGTCCAGGTT 0.697000 12 15 0 0 1 0 0 ZNF687 57592 broad.mit.edu 37 1 151259684 151259684 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:151259684C>T uc001exq.3 + 1 1015 c.917C>T c.(916-918)tCt>tTt p.S306F ZNF687_uc001exp.1_Missense_Mutation_p.S315F|ZNF687_uc009wmo.3_Missense_Mutation_p.S306F|ZNF687_uc009wmp.3_Missense_Mutation_p.S306F NM_020832 NP_065883 Q8N1G0 ZN687_HUMAN Homo sapiens zinc finger protein 687 (ZNF687), mRNA. 306 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|zinc ion binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2) 32 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) CAGAGTCCCTCTAGTGGGGCC 0.572000 43 38 0 0 1 0 0 GUCY2C 2984 broad.mit.edu 37 12 14773998 14773998 + Nonsense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr12:14773998C>T uc001rcd.3 - 22 2891 c.2754G>A c.(2752-2754)tgG>tgA p.W918* NM_004963 NP_004954 P25092 GUC2C_HUMAN Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA. 918 Guanylate cyclase. intracellular signal transduction|receptor guanylyl cyclase signaling pathway integral to membrane ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1) 51 CAATGCGAATCCATATTGGGA 0.463000 24 16 0 0 1 0 0 CNTF 1270 broad.mit.edu 37 11 58391895 58391896 + Nonsense_Mutation DNP GG AA AA TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr11:58391895_58391896GG>AA uc001nna.4 + 1 583_584 c.503_504GG>AA c.(502-504)tgg>tAA p.W168* CNTF_uc010rkm.2_Non-coding_Transcript NM_000614 NP_000605 P26441 CNTF_HUMAN Homo sapiens ciliary neurotrophic factor (CNTF), mRNA. 168 ciliary neurotrophic factor-mediated signaling pathway|growth|negative regulation of neuron apoptosis|positive regulation of tyrosine phosphorylation of Stat3 protein ciliary neurotrophic factor receptor binding|growth factor activity|interleukin-6 receptor binding NS(1)|breast(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1) 10 Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24) CTTTCACAGTGGACAGTAAGGT 0.485000 45 22 0 0 1 0 0 SCNN1B 6338 broad.mit.edu 37 16 23390058 23390058 + Missense_Mutation SNP G C C TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr16:23390058G>C uc002dln.3 + 10 1612 c.1436G>C c.(1435-1437)cGg>cCg p.R479P NM_000336 NP_000327 P51168 SCNNB_HUMAN Homo sapiens sodium channel, nonvoltage-gated 1, beta (SCNN1B), mRNA. 479 excretion|sensory perception of taste apical plasma membrane WW domain binding|ligand-gated sodium channel activity breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 32 GBM - Glioblastoma multiforme(48;0.0465) Amiloride(DB00594)|Triamterene(DB00384) TCTCAGGAGCGGGACCAAAGC 0.582000 36 16 0 0 1 0 0 GPR142 350383 broad.mit.edu 37 17 72363819 72363819 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr17:72363819C>T uc021ucp.1 + 0 175 c.166C>T c.(166-168)Cca>Tca p.P56S GPR142_uc010wqy.2_Missense_Mutation_p.P59S NM_181790 NP_861455 Q7Z601 GP142_HUMAN Homo sapiens G protein-coupled receptor 142 (GPR142), mRNA. 59 cell junction|cytoplasm|integral to membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4) 35 GCTGAGGTCTCCACAGGTCAC 0.547000 20 20 0 0 1 0 0 ANLN 54443 broad.mit.edu 37 7 36438973 36438973 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr7:36438973G>A uc003tff.3 + 2 662 c.458G>A c.(457-459)cGg>cAg p.R153Q ANLN_uc011kaz.2_Missense_Mutation_p.R65Q|ANLN_uc003tfg.3_Missense_Mutation_p.R153Q|ANLN_uc010kxe.3_Missense_Mutation_p.R153Q NM_018685 NP_061155 Q9NQW6 ANLN_HUMAN Homo sapiens anillin, actin binding protein (ANLN), mRNA. 153 Interaction with CD2AP.|Nuclear localization. cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly actomyosin contractile ring|nucleus actin binding breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2) 45 GCAGAGCAACGGCGCCGTTGG 0.448000 32 24 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1155717 1155717 + Silent SNP G A A rs76203912 TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr11:1155717G>A uc021qbr.1 + 3 452 c.405G>A c.(403-405)agG>agA p.R135R Q9HC84 MUC5B_HUMAN Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA. 131 VWFD 1. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CGCTGAGCAGGGTCCTCATGA 0.632000 8 16 0 0 1 0 0 LRRIQ3 127255 broad.mit.edu 37 1 74506908 74506908 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:74506908C>T uc001dfy.4 - 6 1899 c.1707G>A c.(1705-1707)atG>atA p.M569I LRRIQ3_uc001dfz.4_Intron NM_001105659 NP_001099129 A6PVS8 LRIQ3_HUMAN Homo sapiens leucine-rich repeats and IQ motif containing 3 (LRRIQ3), mRNA. 569 NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5) 73 TAACTTTTTTCATTTCTTTAA 0.294000 14 7 0 0 1 0 0 PREX2 80243 broad.mit.edu 37 8 69005848 69005848 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr8:69005848C>T uc003xxv.1 + 20 2286 c.2259C>T c.(2257-2259)tcC>tcT p.S753S PREX2_uc003xxu.1_Silent_p.S753S|PREX2_uc011lez.1_Silent_p.S688S NM_024870 NP_079146 Q70Z35 PREX2_HUMAN Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA. 753 PDZ 2. G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 AGCAAGATTCCATACAATGGG 0.428000 93 20 0 0 1 0 0 ATP13A3 79572 broad.mit.edu 37 3 194158092 194158092 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr3:194158092G>A uc003fty.4 - 17 2349 c.1947C>T c.(1945-1947)gcC>gcT p.A649A ATP13A3_uc003ftz.1_Silent_p.A355A NM_024524 NP_078800 Q9H7F0 AT133_HUMAN Homo sapiens ATPase type 13A3 (ATP13A3), mRNA. 649 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 24 all_cancers(143;6.01e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;5.98e-05) CTTTCATGTAGGCGTCCATTT 0.463000 42 21 0 0 1 0 0 C1orf49 84066 broad.mit.edu 37 1 178483876 178483876 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:178483876C>T uc001glt.2 + 2 244 c.132C>T c.(130-132)acC>acT p.T44T C1orf49_uc021pfd.1_Silent_p.T44T|C1orf49_uc001glu.1_Silent_p.T44T|C1orf49_uc021pfe.1_Silent_p.T44T|C1orf49_uc001glw.2_Silent_p.T52T|C1orf49_uc001glv.1_Non-coding_Transcript NM_032126 NP_115502 Q5T0J7 CA049_HUMAN Homo sapiens chromosome 1 open reading frame 49 (C1orf49), transcript variant 1, mRNA. 44 microtubule cytoskeleton breast(1)|endometrium(1)|large_intestine(3)|lung(7)|skin(1) 13 GGCGGTTTACCAAAGCAGGAG 0.463000 18 11 0 0 1 0 0 LRRC8C 84230 broad.mit.edu 37 1 90179755 90179755 + Missense_Mutation SNP A C C TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:90179755A>C uc001dnl.4 + 2 1868 c.1626A>C c.(1624-1626)aaA>aaC p.K542N NM_032270 NP_115646 Q8TDW0 LRC8C_HUMAN Homo sapiens leucine rich repeat containing 8 family, member C (LRRC8C), mRNA. 542 endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 28 all_lung(203;0.126) all cancers(265;0.00756)|Epithelial(280;0.0313) GGGATCTCAAAAGCCTTAAAA 0.438000 38 46 0 0 1 0 0 RPH3A 22895 broad.mit.edu 37 12 113303249 113303249 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr12:113303249G>A uc010syl.2 + 5 623 c.261G>A c.(259-261)agG>agA p.R87R RPH3A_uc001ttz.3_Silent_p.R87R|RPH3A_uc001tty.3_Silent_p.R83R|RPH3A_uc009zwe.1_Silent_p.R83R|RPH3A_uc010sym.2_Silent_p.R38R|RPH3A_uc001tua.3_5'Flank NM_001143854 NP_001137326 Q9Y2J0 RP3A_HUMAN Homo sapiens rabphilin 3A homolog (mouse) (RPH3A), transcript variant 1, mRNA. 87 RabBD. intracellular protein transport cell junction|synaptic vesicle Rab GTPase binding|transporter activity|zinc ion binding breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1) 47 BRCA - Breast invasive adenocarcinoma(302;0.00453) AAAACATGAGGAAGAACGTGG 0.547000 123 23 0 0 1 0 0 TIPARP 25976 broad.mit.edu 37 3 156395966 156395966 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr3:156395966G>A uc003fav.3 + 1 902 c.480G>A c.(478-480)caG>caA p.Q160Q TIPARP-AS1_uc011boq.2_5'Flank|TIPARP_uc003faw.3_Silent_p.Q160Q|TIPARP_uc021xgg.1_Silent_p.Q160Q NM_015508 NP_056323 Q7Z3E1 PARPT_HUMAN Homo sapiens TCDD-inducible poly(ADP-ribose) polymerase (TIPARP), transcript variant 2, mRNA. 160 NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding p.Q160Q(2) NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 23 LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465) CTCACTTCCAGACTGATCTTT 0.463000 63 30 0 0 1 0 0 RGS22 26166 broad.mit.edu 37 8 101014534 101014534 + Nonsense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr8:101014534G>A uc003yjb.1 - 17 2881 c.2686C>T c.(2686-2688)Cga>Tga p.R896* RGS22_uc003yja.1_Nonsense_Mutation_p.R715*|RGS22_uc003yjc.1_Nonsense_Mutation_p.R884*|RGS22_uc011lgz.1_Non-coding_Transcript|RGS22_uc022azf.1_Nonsense_Mutation_p.R285*|SNORD77_uc022azg.1_5'Flank NM_015668 NP_056483 Q8NE09 RGS22_HUMAN Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA. 896 RGS 1. negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity p.D895Y(1) RGS22/SYCP1(2) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169) CTTTGATTTCGATCTCTGTAA 0.333000 34 27 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13864614 13864615 + Nonsense_Mutation DNP CC TT TT TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr5:13864614_13864615CC>TT uc003jfd.2 - 27 4529_4530 c.4487_4488GG>AA c.(4486-4488)tgg>tAA p.W1496* NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 1496 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.H1495Q(1) NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TTATCCTTTCCCAGTGCCGCTC 0.475000 Kartagener syndrome 37 26 0 0 1 0 0 LRP1 4035 broad.mit.edu 37 12 57600317 57600318 + Missense_Mutation DNP CC TT TT TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr12:57600317_57600318CC>TT uc001snd.3 + 75 12118_12119 c.11652_11653CC>TT c.(11650-11655)ggccac>ggTTac p.H3885Y NM_002332 NP_002323 Q07954 LRP1_HUMAN Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA. 3885 aorta morphogenesis|apoptotic cell clearance|negative regulation of Wnt receptor signaling pathway|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) TGTTCCCCGGCCACCCCCATTC 0.584000 39 28 0 0 1 0 0 CYFIP2 26999 broad.mit.edu 37 5 156723693 156723693 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr5:156723693G>A uc021ygm.1 + 4 433 c.295G>A c.(295-297)Gag>Aag p.E99K CYFIP2_uc011ddn.2_Missense_Mutation_p.E74K|CYFIP2_uc011ddo.2_Intron|CYFIP2_uc021ygn.1_Missense_Mutation_p.E99K|CYFIP2_uc021ygo.1_Missense_Mutation_p.E99K|CYFIP2_uc003lwt.3_5'UTR|CYFIP2_uc011ddp.2_5'UTR NM_001037333 NP_001032410 Q96F07 CYFP2_HUMAN Homo sapiens cytoplasmic FMR1 interacting protein 2 (CYFIP2), transcript variant 1, mRNA. 100 apoptosis|cell-cell adhesion cell junction|perinuclear region of cytoplasm|synapse|synaptosome protein binding p.E100K(2) breast(1)|endometrium(12)|kidney(2)|lung(23) 38 Renal(175;0.00212) Medulloblastoma(196;0.0306)|all_neural(177;0.0897) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GAAATGCAACGAGCAGCCCAA 0.463000 47 54 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179473600 179473600 + Missense_Mutation SNP C A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr2:179473600C>A uc021vsy.1 - 222 44659 c.44434G>T c.(44434-44436)Gat>Tat p.D14812Y MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.D8507Y|TTN_uc021vta.1_Missense_Mutation_p.D8440Y|TTN_uc021vtb.1_Missense_Mutation_p.D8315Y NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 15739 Fibronectin type-III 7. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTTCTGATATCTTCAAATACA 0.368000 67 16 1.01871e-10 1.03506e-10 1 1 0 PRMT8 56341 broad.mit.edu 37 12 3649838 3649838 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr12:3649838C>T uc001qmf.3 + 1 509 c.142C>T c.(142-144)Cat>Tat p.H48Y PRMT8_uc009zed.3_Missense_Mutation_p.H39Y|PRMT8_uc009zee.1_Non-coding_Transcript NM_019854 NP_062828 Q9NR22 ANM8_HUMAN Homo sapiens protein arginine methyltransferase 8 (PRMT8), mRNA. 48 regulation of protein binding cytoplasm|plasma membrane histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264) ATGCGTCCATCATGTGTCCAC 0.607000 186 142 0 0 1 0 0 ZNF878 729747 broad.mit.edu 37 19 12155702 12155702 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr19:12155702C>T uc021upl.1 - 3 680 c.514G>A c.(514-516)Gaa>Aaa p.E172K ZNF878_uc002mta.1_Missense_Mutation_p.E219K NM_001080404 NP_001073873 C9JN71 ZN878_HUMAN Homo sapiens zinc finger protein 878 (ZNF878), mRNA. 172 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding p.Y171Y(1) cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1) 8 TGCTTACATTCATAGGGTTTT 0.413000 161 103 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76455200 76455200 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr17:76455200G>A uc010dhp.2 - 60 9869 c.9744C>T c.(9742-9744)atC>atT p.I3248I DNAH17_uc002jvs.3_Non-coding_Transcript NM_173628 NP_775899 Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA. p.E3248Q(1) NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) AGAAGCGGACGATGTTGATGC 0.642000 146 187 0 0 1 0 0 CCDC141 285025 broad.mit.edu 37 2 179733901 179733901 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr2:179733901G>A uc002une.2 - 14 2455 c.2337C>T c.(2335-2337)atC>atT p.I779I CCDC141_uc002unf.1_Silent_p.I258I NM_173648 NP_775919 Q6ZP82 CC141_HUMAN Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA. 204 protein binding NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1) 78 OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147) CGTAATCCTGGATTCTCTCTT 0.418000 59 27 0 0 1 0 0 COL6A5 256076 broad.mit.edu 37 3 130095398 130095398 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr3:130095398G>A uc010htj.1 + 2 880 c.386G>A c.(385-387)aGa>aAa p.R129K COL6A5_uc010hti.1_Non-coding_Transcript NM_153264 NP_694996 A8TX70 CO6A5_HUMAN Homo sapiens collagen, type VI, alpha 5 (COL6A5), mRNA. 129 Nonhelical region.|VWFA 1. axon guidance|cell adhesion collagen endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1) 44 ATAAATGGGAGAGACAGGAAA 0.522000 10 4 0 0 1 0 0 SPG21 51324 broad.mit.edu 37 15 65257734 65257734 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr15:65257734C>T uc002aod.3 - 7 830 c.737G>A c.(736-738)cGa>cAa p.R246Q SPG21_uc002aoe.3_Missense_Mutation_p.R246Q|SPG21_uc010bhb.3_Missense_Mutation_p.R219Q NM_001127889 NP_057714 Q9NZD8 SPG21_HUMAN Homo sapiens spastic paraplegia 21 (autosomal recessive, Mast syndrome) (SPG21), transcript variant 2, mRNA. 246 cell death cytosol|endosome membrane|trans-Golgi network transport vesicle CD4 receptor binding central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1) 10 ATGAGCTCTTCGGGCATTAGG 0.433000 25 31 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179430602 179430602 + Missense_Mutation SNP A G G TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr2:179430602A>G uc021vsy.1 - 274 72778 c.72553T>C c.(72553-72555)Tat>Cat p.Y24185H MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.Y17880H|TTN_uc021vta.1_Missense_Mutation_p.Y17813H|TTN_uc021vtb.1_Missense_Mutation_p.Y17688H NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 25112 Ig-like 121. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTGAAGTAATAAATGGCTCCT 0.418000 83 103 0 0 1 0 0 OTUD6B 51633 broad.mit.edu 37 8 92082560 92082560 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr8:92082560C>T uc003yeu.4 + 0 137 c.38C>T c.(37-39)cCt>cTt p.P13L BC067244_uc003yet.3_5'Flank|OTUD6B_uc011lgh.2_5'UTR NM_016023 NP_057107 Q8N6M0 OTU6B_HUMAN Homo sapiens OTU domain containing 6B (OTUD6B), mRNA. 0 endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2) 11 BRCA - Breast invasive adenocarcinoma(11;0.0187) TGGAAGGTGCCTACTAGCCGG 0.617000 20 8 0 0 1 0 0 NDFIP2 54602 broad.mit.edu 37 13 80095068 80095068 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr13:80095068C>T uc001vlf.3 + 1 525 c.445C>T c.(445-447)Cca>Tca p.P149S NDFIP2_uc010tib.2_Missense_Mutation_p.P149S|NDFIP2_uc001vlg.3_Non-coding_Transcript NM_019080 NP_061953 Q9NV92 NFIP2_HUMAN Homo sapiens Nedd4 family interacting protein 2 (NDFIP2), transcript variant 1, mRNA. 149 Interaction with NEDD4 (By similarity). negative regulation of gene expression|negative regulation of protein transport|negative regulation of transporter activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of protein ubiquitination Golgi membrane|endoplasmic reticulum|integral to membrane|mitochondrion|multivesicular body membrane|perinuclear region of cytoplasm WW domain binding|signal transducer activity NS(1)|breast(1)|endometrium(2)|kidney(3)|lung(3)|ovary(2)|prostate(1)|skin(1) 14 Acute lymphoblastic leukemia(28;0.205) GBM - Glioblastoma multiforme(99;0.0196) CTCTTCCCCTCCACCATATAG 0.408000 40 23 0 0 1 0 0 NBPF14 25832 broad.mit.edu 37 1 148341935 148341935 + Missense_Mutation SNP T A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:148341935T>A uc001eqf.3 - 4 673 c.638A>T c.(637-639)aAt>aTt p.N213I NBPF14_uc001eqe.3_Intron|NBPF14_uc001eqg.3_Intron|NBPF14_uc009wkf.1_Non-coding_Transcript|NBPF14_uc001erc.4_Non-coding_Transcript|NBPF14_uc001erd.4_Missense_Mutation_p.N213I|NBPF14_uc010paj.2_Intron|NBPF14_uc021owo.1_5'UTR|NBPF14_uc010pav.2_Missense_Mutation_p.N213I|NBPF14_uc010paw.2_Missense_Mutation_p.N138I NM_017940 NP_060410 Q5TI25 NBPFE_HUMAN Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA. 144 NBPF 2.|Poly-Glu. cytoplasm NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1) 42 all_hematologic(923;0.032) GCCGTGGCTATTTGAACAAGT 0.493000 297 118 0 0 1 0 0 NOS1 4842 broad.mit.edu 37 12 117691527 117691527 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr12:117691527G>A uc001twn.2 - 17 3377 c.2666C>T c.(2665-2667)tCc>tTc p.S889F NOS1_uc021ren.1_Missense_Mutation_p.S519F|NOS1_uc021reo.1_Missense_Mutation_p.S519F|NOS1_uc001twm.2_Missense_Mutation_p.S855F NM_001204218 NP_001191147 P29475 NOS1_HUMAN Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA. 855 Flavodoxin-like. multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) GTCAGAGTAGGAGGAGACGCT 0.547000 79 16 0 0 1 0 0 C1QTNF5 114902 broad.mit.edu 37 11 119215467 119215467 + Splice_Site SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr11:119215467C>T uc010rzg.1 - 7 933 c.773_splice c.e7-1 p.G258_splice C1QTNF5_uc001pwj.2_Splice_Site Q9BY79 MFRP_HUMAN Homo sapiens C1q and tumor necrosis factor related protein 5 (C1QTNF5), mRNA. 258 embryo development integral to membrane endometrium(1)|lung(2) 3 Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;3.78e-05) GGCACAGCTCCCTGGATGTGG 0.587000 15 37 0 0 1 0 0 CYTIP 9595 broad.mit.edu 37 2 158283904 158283904 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr2:158283904G>A uc002tzj.1 - 5 577 c.505C>T c.(505-507)Ctg>Ttg p.L169L CYTIP_uc010zcl.1_Silent_p.L63L NM_004288 NP_004279 O60759 CYTIP_HUMAN Homo sapiens cytohesin 1 interacting protein (CYTIP), mRNA. 169 Interaction with CYTH1. regulation of cell adhesion cell cortex|early endosome protein binding breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 15 GTTCTTTTCAGAATCATTGTT 0.353000 12 6 0 0 1 0 0 ALPK1 80216 broad.mit.edu 37 4 113353198 113353198 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr4:113353198C>T uc003ian.4 + 10 2722 c.2495C>T c.(2494-2496)tCc>tTc p.S832F ALPK1_uc003iap.4_Missense_Mutation_p.S832F|ALPK1_uc011cfx.2_Missense_Mutation_p.S754F|ALPK1_uc003iao.4_Intron|ALPK1_uc010imo.3_Missense_Mutation_p.S660F NM_001102406 NP_079420 Q96QP1 ALPK1_HUMAN Homo sapiens alpha-kinase 1 (ALPK1), transcript variant 2, mRNA. 832 ATP binding|protein serine/threonine kinase activity p.S832Y(2)|p.S832N(2)|p.S832T(1) NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1) 53 Ovarian(17;0.0446)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00325) AATCCTGACTCCAGAAAAAGT 0.542000 19 17 0 0 1 0 0 SLC34A2 10568 broad.mit.edu 37 4 25665863 25665863 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr4:25665863G>A uc003grr.3 + 3 371 c.290G>A c.(289-291)gGg>gAg p.G97E SLC34A2_uc003grs.3_Missense_Mutation_p.G96E|SLC34A2_uc010iev.3_Missense_Mutation_p.G96E NM_006424 NP_006415 O95436 NPT2B_HUMAN Homo sapiens solute carrier family 34 (sodium phosphate), member 2 (SLC34A2), transcript variant 1, mRNA. 97 cellular phosphate ion homeostasis apical plasma membrane|brush border membrane|integral to plasma membrane phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity SLC34A2/ROS1(14) breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4) 41 Breast(46;0.0503) TTCTTCCAAGGGATTGGGAGA 0.468000 T ROS1 NSCLC 118 68 0 0 1 0 0 MAP4K5 11183 broad.mit.edu 37 14 50911881 50911881 + Missense_Mutation SNP A G G TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr14:50911881A>G uc001wya.3 - 17 1537 c.1217T>C c.(1216-1218)tTt>tCt p.F406S MAP4K5_uc001wyb.3_Missense_Mutation_p.F406S|MAP4K5_uc010anv.1_Missense_Mutation_p.F406S|MAP4K5_uc001wyc.1_Missense_Mutation_p.F80S NM_006575 NP_006566 Q9Y4K4 M4K5_HUMAN Homo sapiens mitogen-activated protein kinase kinase kinase kinase 5 (MAP4K5), transcript variant 1, mRNA. 406 activation of JUN kinase activity cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 all_epithelial(31;0.000415)|Breast(41;0.0102) TTCATCCGGAAAGTTGTCTTC 0.418000 19 5 0 0 1 0 0 OR10Z1 128368 broad.mit.edu 37 1 158576463 158576463 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:158576463C>T uc010pio.2 + 0 235 c.235C>T c.(235-237)Cct>Tct p.P79S NM_001004478 NP_001004478 Q8NGY1 O10Z1_HUMAN Homo sapiens olfactory receptor, family 10, subfamily Z, member 1 (OR10Z1), mRNA. 79 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P79T(2) endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4) 37 all_hematologic(112;0.0378) GGGCATCATCCCTAGAATGCT 0.537000 242 104 0 0 1 0 0 ATF7IP2 80063 broad.mit.edu 37 16 10575879 10575879 + Missense_Mutation SNP G T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr16:10575879G>T uc002czw.3 + 10 1981 c.1822G>T c.(1822-1824)Gta>Tta p.V608L ATF7IP2_uc010uyp.2_Missense_Mutation_p.V152L|ATF7IP2_uc002czu.3_Missense_Mutation_p.V608L|ATF7IP2_uc002czv.3_3'UTR|ATF7IP2_uc010uyo.2_Non-coding_Transcript|ATF7IP2_uc010uyq.2_Non-coding_Transcript NM_024997 NP_079273 Q5U623 MCAF2_HUMAN Homo sapiens activating transcription factor 7 interacting protein 2 (ATF7IP2), transcript variant 1, mRNA. 608 Fibronectin type-III. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus large_intestine(3) 3 GTGTGCTCCTGTAGAAAGCTA 0.443000 44 50 1.30916e-28 1.35049e-28 1 1 0 APOB 338 broad.mit.edu 37 2 21237416 21237416 + Missense_Mutation SNP T G G TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr2:21237416T>G uc002red.3 - 23 3874 c.3746A>C c.(3745-3747)cAg>cCg p.Q1249P NM_000384 NP_000375 P04114 APOB_HUMAN Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA. 1249 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TTGCAAAGTCTGGGTATAAGG 0.448000 31 10 0 0 1 0 0 PCDH1 5097 broad.mit.edu 37 5 141244203 141244203 + Nonsense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr5:141244203G>A uc003llp.3 - 2 1810 c.1693C>T c.(1693-1695)Cag>Tag p.Q565* PCDH1_uc011dbf.2_Nonsense_Mutation_p.Q543*|PCDH1_uc003llq.3_Nonsense_Mutation_p.Q565* NM_032420 NP_115796 Q08174 PCDH1_HUMAN Homo sapiens protocadherin 1 (PCDH1), transcript variant 2, mRNA. 565 Cadherin 5. cell-cell signaling|homophilic cell adhesion|nervous system development cell-cell junction|integral to plasma membrane calcium ion binding breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1) 51 Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;1.06e-05) GTCTTCACCTGGATCTCTCCA 0.582000 23 25 0 0 1 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125282009 125282009 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr2:125282009G>A uc010flu.3 + 8 1821 c.1457G>A c.(1456-1458)gGa>gAa p.G486E CNTNAP5_uc002tno.3_Missense_Mutation_p.G485E NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA. 485 Laminin G-like 2. cell adhesion|signal transduction integral to membrane receptor binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) ATTTATTCTGGAAATAGCTAC 0.453000 3 10 0 0 1 0 0 CDH26 60437 broad.mit.edu 37 20 58587587 58587587 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr20:58587587C>T uc002ybe.3 + 17 2612 c.2301C>T c.(2299-2301)ctC>ctT p.L767L CDH26_uc002ybf.1_Intron|CDH26_uc010zzy.2_Non-coding_Transcript|CDH26_uc002ybh.3_Silent_p.L100L|CDH26_uc002ybi.3_Silent_p.L59L NM_177980 NP_817089 Q8IXH8 CAD26_HUMAN Homo sapiens cadherin 26 (CDH26), transcript variant a, mRNA. 0 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1) 44 all_lung(29;0.00963) BRCA - Breast invasive adenocarcinoma(7;5.58e-09) CCCAGAAACTCCATGTTGCCA 0.532000 57 31 0 0 1 0 0 OR13C3 138803 broad.mit.edu 37 9 107298150 107298150 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr9:107298150C>T uc004bcb.1 - 0 945 c.945G>A c.(943-945)ggG>ggA p.G315G NM_001001961 NP_001001961 Q8NGS6 O13C3_HUMAN Homo sapiens olfactory receptor, family 13, subfamily C, member 3 (OR13C3), mRNA. 315 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1) 19 GTGTCACTACCCCATAAAACA 0.373000 66 28 0 0 1 0 0 CCDC147 159686 broad.mit.edu 37 10 106124558 106124558 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr10:106124558G>A uc001kyh.3 + 3 642 c.508G>A c.(508-510)Gta>Ata p.V170I NM_001008723 NP_001008723 Q5T655 CC147_HUMAN Homo sapiens coiled-coil domain containing 147 (CCDC147), mRNA. 170 NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189) ATCAGAAGTGGTAAAATTACG 0.453000 6 24 0 0 1 0 0 PKD2L2 27039 broad.mit.edu 37 5 137244533 137244533 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr5:137244533G>A uc003lby.3 + 7 1282 c.1226G>A c.(1225-1227)gGa>gAa p.G409E PKD2L2_uc003lbw.1_Missense_Mutation_p.G409E|PKD2L2_uc003lbx.3_Intron|PKD2L2_uc011cyi.1_Missense_Mutation_p.G17E NM_014386 NP_055201 Q9NZM6 PK2L2_HUMAN Homo sapiens polycystic kidney disease 2-like 2 (PKD2L2), mRNA. 409 integral to membrane calcium ion binding|ion channel activity breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2) 28 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) GACATAGTAGGATTTGCCATC 0.328000 8 15 0 0 1 0 0 GRIK3 2899 broad.mit.edu 37 1 37307454 37307454 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:37307454C>T uc001caz.2 - 9 1548 c.1413G>A c.(1411-1413)aaG>aaA p.K471K GRIK3_uc001cba.1_Silent_p.K471K NM_000831 NP_000822 Q13003 GRIK3_HUMAN Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA. 471 negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button G-protein-coupled receptor binding|adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1) 89 Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169) L-Glutamic Acid(DB00142) GGGCCAGCTCCTTTAGCAGGT 0.567000 106 99 0 0 1 0 0 ATXN7L1 222255 broad.mit.edu 37 7 105516868 105516868 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr7:105516868G>A uc003vde.2 - 0 164 c.137C>T c.(136-138)cCc>cTc p.P46L ATXN7L1_uc003vdi.2_Missense_Mutation_p.P46L|CDHR3_uc003vdk.3_5'Flank NM_020725 NP_065776 Q9ULK2 AT7L1_HUMAN Homo sapiens ataxin 7-like 1 (ATXN7L1), transcript variant 1, mRNA. 46 endometrium(1)|large_intestine(4)|lung(5) 10 GGAGGACCAGGGTTTGCCCAG 0.542000 15 11 0 0 1 0 0 OR52E8 390079 broad.mit.edu 37 11 5878597 5878597 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr11:5878597G>A uc010qzr.2 - 0 336 c.336C>T c.(334-336)ttC>ttT p.F112F TRIM5_uc001mbq.1_Intron NM_001005168 NP_001005168 Q6IFG1 O52E8_HUMAN Homo sapiens olfactory receptor, family 52, subfamily E, member 8 (OR52E8), mRNA. 112 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F112L(2) endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 20 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114) Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TAGCAGTGAAGAAATGGATGA 0.458000 103 54 0 0 1 0 0 ADORA3 140 broad.mit.edu 37 1 112106526 112106526 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:112106526C>T uc001ebg.4 - 0 72 c.49G>A c.(49-51)Gaa>Aaa p.E17K RAP1A_uc001ebi.3_Intron NM_001081976 NP_001075445 P33765 AA3R_HUMAN Homo sapiens adenosine A3 receptor (ADORA3), transcript variant 3, mRNA. 0 activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction integral to plasma membrane adenosine receptor activity, G-protein coupled NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1) 12 all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156) all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134) Adenosine(DB00640)|Aminophylline(DB01223) CAGGAGCTTTCCCACCTGGCC 0.552000 56 53 0 0 1 0 0 MYCBP2 23077 broad.mit.edu 37 13 77786261 77786261 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr13:77786261G>A uc021rks.1 - 21 3359 c.3092C>T c.(3091-3093)cCa>cTa p.P1031L MYCBP2_uc010aev.3_Missense_Mutation_p.P397L NM_015057 NP_055872 O75592 MYCB2_HUMAN Homo sapiens MYC binding protein 2 (MYCBP2), mRNA. 993 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) ATTCCAATATGGCACATCCAA 0.358000 18 22 0 0 1 0 0 TCRBV14S1 0 broad.mit.edu 37 7 142423748 142423749 + Missense_Mutation DNP GG AA AA TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr7:142423748_142423749GG>AA uc010lol.1 + 1 437_438 c.404_405GG>AA c.(403-405)agg>aAA p.R135K TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TRBV23-1_uc022ans.1_Intron|TCRBV14S1_uc011ksj.1_Non-coding_Transcript SubName: Full=V_segment translation product; Flags: Fragment; GCAAGAACAAGGAGACTCCTCC 0.550000 22 14 0 0 1 0 0 RAD54L 8438 broad.mit.edu 37 1 46736440 46736440 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:46736440C>T uc001cpl.2 + 9 1863 c.1152C>T c.(1150-1152)ctC>ctT p.L384L RAD54L_uc009vye.2_Silent_p.L384L NM_003579 NP_003570 Q92698 RAD54_HUMAN Homo sapiens RAD54-like (S. cerevisiae) (RAD54L), transcript variant 1, mRNA. 384 meiosis nucleus ATP binding|DNA binding|helicase activity breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 25 Acute lymphoblastic leukemia(166;0.155) Breast(1374;0.0634) KIRC - Kidney renal clear cell carcinoma(1967;0.000896) TGCGGGAGCTCACCAGCATTG 0.502000 Direct reversal of damage;Homologous recombination 37 13 0 0 1 0 0 AGAP1 116987 broad.mit.edu 37 2 237032677 237032677 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr2:237032677G>A uc002vvs.3 + 17 3083 c.2485G>A c.(2485-2487)Gag>Aag p.E829K AGAP1_uc002vvt.3_Missense_Mutation_p.E776K NM_001037131 NP_001032208 Q9UPQ3 AGAP1_HUMAN Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 (AGAP1), transcript variant 1, mRNA. 829 E -> K (in dbSNP:rs15718). protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm ARF GTPase activator activity|GTP binding|zinc ion binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 CTGCCCCGACGAGCGCTTCGT 0.637000 35 49 0 0 1 0 0 TRIO 7204 broad.mit.edu 37 5 14405957 14405957 + Splice_Site SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr5:14405957G>A uc003jff.3 + 32 4723 c.4717_splice c.e32-1 p.A1573_splice TRIO_uc003jfg.3_Splice_Site|TRIO_uc003jfh.1_Splice_Site_p.A1222_splice NM_007118 NP_009049 O75962 TRIO_HUMAN Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA. 1573 PH 1. apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway cytosol ATP binding|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 118 Lung NSC(4;0.000742) CCTTGTTAAGGCTTCCAGCAT 0.512000 20 17 0 0 1 0 0 ALPK3 57538 broad.mit.edu 37 15 85411375 85411375 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr15:85411375C>T uc002ble.3 + 13 5579 c.5412C>T c.(5410-5412)gcC>gcT p.A1804A ALPK3_uc010upc.2_Silent_p.A105A NM_020778 NP_065829 Q96L96 ALPK3_HUMAN Homo sapiens alpha-kinase 3 (ALPK3), mRNA. 1804 Alpha-type protein kinase. heart development nucleus ATP binding|protein serine/threonine kinase activity p.P1803L(1) NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 BRCA - Breast invasive adenocarcinoma(143;0.0587) GCTTCCCTGCCCTGCTGGACC 0.647000 161 41 0 0 1 0 0 OR52E6 390078 broad.mit.edu 37 11 5862630 5862630 + Silent SNP T C C TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr11:5862630T>C uc010qzq.2 - 0 498 c.498A>G c.(496-498)ttA>ttG p.L166L TRIM5_uc001mbq.1_Intron NM_001005167 NP_001005167 Q96RD3 O52E6_HUMAN Homo sapiens olfactory receptor, family 52, subfamily E, member 6 (OR52E6), mRNA. 166 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 27 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) AGGGCAACCTTAAGAGGAGAA 0.493000 33 82 0 0 1 0 0 STYK1 55359 broad.mit.edu 37 12 10783714 10783714 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr12:10783714G>A uc001qys.2 - 4 902 c.381C>T c.(379-381)ccC>ccT p.P127P NM_018423 NP_060893 Q6J9G0 STYK1_HUMAN Homo sapiens serine/threonine/tyrosine kinase 1 (STYK1), mRNA. 127 Protein kinase. integral to membrane|plasma membrane ATP binding|non-membrane spanning protein tyrosine kinase activity breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 26 CTCGAAAGATGGGCCCACAGC 0.512000 HNSCC(73;0.22) 75 12 0 0 1 0 0 HYDIN 54768 broad.mit.edu 37 16 71103194 71103194 + Silent SNP G C C TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr16:71103194G>C uc002ezr.3 - 13 2101 c.1950C>G c.(1948-1950)cgC>cgG p.R650R HYDIN_uc010cfz.2_Silent_p.R395R|HYDIN_uc021tkq.1_Silent_p.R650R|HYDIN_uc010vmc.2_Silent_p.R667R|HYDIN_uc010vmd.2_Silent_p.R677R|HYDIN_uc002ezw.4_Silent_p.R667R NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA. 650 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) ATCCCTGGGGGCGAATGGTGC 0.488000 51 20 0 0 1 0 0 SMYD1 150572 broad.mit.edu 37 2 88408030 88408030 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr2:88408030C>T uc002ssr.3 + 8 1371 c.1286C>T c.(1285-1287)cCc>cTc p.P429L SMYD1_uc002ssq.2_Intron|SMYD1_uc002sss.3_Missense_Mutation_p.P125L NM_198274 NP_938015 Q8NB12 SMYD1_HUMAN Homo sapiens SET and MYND domain containing 1 (SMYD1), mRNA. 429 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 ACACACGGACCCTCCCACCCC 0.567000 19 17 0 0 1 0 0 PREX2 80243 broad.mit.edu 37 8 69020490 69020491 + Missense_Mutation DNP GG AA AA TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr8:69020490_69020491GG>AA uc003xxv.1 + 23 2889_2890 c.2862_2863GG>AA c.(2860-2865)ttggga>ttAAga p.G955R PREX2_uc011lez.1_Missense_Mutation_p.G890R NM_024870 NP_079146 Q70Z35 PREX2_HUMAN Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA. 955 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 CAACCTCTTTGGGAAGTGCATT 0.411000 31 15 0 0 1 0 0 TRIM23 373 broad.mit.edu 37 5 64913954 64913954 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr5:64913954G>A uc003jty.3 - 1 296 c.210C>T c.(208-210)atC>atT p.I70I TRIM23_uc003jtw.3_Silent_p.I70I|TRIM23_uc003jtx.3_Silent_p.I70I NM_001656 NP_001647 P36406 TRI23_HUMAN Homo sapiens tripartite motif containing 23 (TRIM23), transcript variant alpha, mRNA. 70 interspecies interaction between organisms|small GTPase mediated signal transduction Golgi membrane|lysosomal membrane GDP binding|GTP binding|GTPase activity|enzyme activator activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 28 Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234) Lung(70;0.00473) ATGGGCAACGGATTGCTCTTC 0.408000 25 18 0 0 1 0 0 SH2D4B 387694 broad.mit.edu 37 10 82369194 82369194 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr10:82369194G>A uc001kck.1 + 5 1302 c.872G>A c.(871-873)cGc>cAc p.R291H SH2D4B_uc001kcl.1_Missense_Mutation_p.R243H|SH2D4B_uc001kcm.1_Missense_Mutation_p.R38H NM_207372 NP_997255 Q5SQS7 SH24B_HUMAN Homo sapiens SH2 domain containing 4B (SH2D4B), transcript variant 1, mRNA. 290 endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6) 13 Colorectal(32;0.229) ACCTGGGAGCGCCCGCTGCGC 0.607000 18 41 0 0 1 0 0 NOS1 4842 broad.mit.edu 37 12 117665402 117665402 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr12:117665402G>A uc001twn.2 - 23 4263 c.3552C>T c.(3550-3552)acC>acT p.T1184T NOS1_uc021ren.1_Silent_p.T814T|NOS1_uc021reo.1_Silent_p.T814T|NOS1_uc001twm.2_Silent_p.T1150T NM_001204218 NP_001191147 P29475 NOS1_HUMAN Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA. 1150 FAD-binding FR-type. multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding p.S1184S(1)|p.S1183R(1) NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) CCTCCACGATGGTGGGGTTCT 0.577000 66 63 0 0 1 0 0 SEPT14 346288 broad.mit.edu 37 7 55902251 55902251 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr7:55902251G>A uc003tqz.2 - 5 704 c.587C>T c.(586-588)gCa>gTa p.A196V NM_207366 NP_997249 Q6ZU15 SEP14_HUMAN Homo sapiens septin 14 (SEPT14), mRNA. 196 cell cycle|cell division septin complex GTP binding|protein binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2) 23 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) AATAGTGTCTGCTTTGGCAAT 0.308000 32 3 0 0 1 0 0 PKHD1 5314 broad.mit.edu 37 6 51918901 51918901 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr6:51918901G>A uc003pah.1 - 19 2175 c.1899C>T c.(1897-1899)atC>atT p.I633I PKHD1_uc003pai.3_Silent_p.I633I NM_138694 NP_619639 P08F94 PKHD1_HUMAN Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA. 633 cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) TTTGAAAGCCGATTGTGAAGG 0.478000 32 67 0 0 1 0 0 CCDC37 348807 broad.mit.edu 37 3 126142183 126142183 + Silent SNP C A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr3:126142183C>A uc010hsg.1 + 10 1160 c.1101C>A c.(1099-1101)atC>atA p.I367I CCDC37_uc003eiu.1_Silent_p.I366I NM_182628 NP_872434 Q494V2 CCD37_HUMAN Homo sapiens coiled-coil domain containing 37 (CCDC37), mRNA. 366 p.T369fs*36(1) NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3) 23 GBM - Glioblastoma multiforme(114;0.166) ACTCTCCCATCCCCCCCACGC 0.657000 10 8 0.00621372 0.00621986 1 1 0 ZNF211 10520 broad.mit.edu 37 19 58152436 58152437 + Silent DNP CC TT TT TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr19:58152436_58152437CC>TT uc002qpr.2 + 5 1077_1078 c.774_775CC>TT c.(772-777)ttcctg>ttTTtg p.258_259FL>FL ZNF211_uc010yhb.1_Silent_p.198_199FL>FL|ZNF211_uc002qpp.2_Silent_p.207_208FL>FL|ZNF211_uc002qpq.2_Silent_p.194_195FL>FL|ZNF211_uc002qpt.2_Silent_p.206_207FL>FL|ZNF211_uc010yhc.1_Silent_p.206_207FL>FL|ZNF211_uc010yhe.1_Silent_p.185_186FL>FL|ZNF211_uc010yhd.1_Silent_p.133_134FL>FL NM_006385 NP_006376 Q13398 ZN211_HUMAN Homo sapiens zinc finger protein 211 (ZNF211), transcript variant 1, mRNA. 194 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) GGAAAGACTTCCTGGCCAACAT 0.475000 25 31 0 0 1 0 0 C1orf150 148823 broad.mit.edu 37 1 247712498 247712498 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:247712498G>A uc001idf.3 + 0 152 c.5G>A c.(4-6)gGa>gAa p.G2E C1orf150_uc009xgw.3_Intron|C1orf150_uc001ida.4_Non-coding_Transcript|C1orf150_uc001idb.4_Non-coding_Transcript|C1orf150_uc009xgx.3_Intron NM_145278 NP_660321 Q5JQS6 CA150_HUMAN Homo sapiens chromosome 1 open reading frame 150 (C1orf150), mRNA. 2 breast(1)|large_intestine(2)|lung(10)|skin(2) 15 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.0241) GAAAAGATGGGAAATTATCTC 0.483000 49 31 0 0 1 0 0 CEP70 80321 broad.mit.edu 37 3 138291768 138291768 + Missense_Mutation SNP A T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr3:138291768A>T uc003esl.3 - 2 200 c.2T>A c.(1-3)aTg>aAg p.M1K CEP70_uc011bmk.2_Intron|CEP70_uc011bml.2_Intron|CEP70_uc011bmm.2_Intron|CEP70_uc003esm.3_Missense_Mutation_p.M1K|CEP70_uc003esn.3_Missense_Mutation_p.M1K NM_024491 NP_077817 Q8NHQ1 CEP70_HUMAN Homo sapiens centrosomal protein 70kDa (CEP70), mRNA. 1 G2/M transition of mitotic cell cycle centrosome|cytosol protein binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3) 24 TACCGGAAACATAGTTACTTT 0.338000 36 21 0 0 1 0 0 SPAG1 6674 broad.mit.edu 37 8 101253000 101253000 + Splice_Site SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr8:101253000G>A uc003yjh.2 + 18 2735 c.2649_splice c.e18+1 p.K883_splice SPAG1_uc003yji.2_Splice_Site_p.K883_splice NM_172218 NP_757367 Q07617 SPAG1_HUMAN Homo sapiens sperm associated antigen 1 (SPAG1), transcript variant 2, mRNA. 883 single fertilization cytoplasm GTP binding|hydrolase activity central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 30 all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823) Breast(495;0.195) Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525) KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236) AAGGTTTAAGGTAAGTGGCTA 0.299000 42 29 0 0 1 0 0 MX1 4599 broad.mit.edu 37 21 42830677 42830677 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr21:42830677C>T uc010goq.3 + 14 2327 c.1981C>T c.(1981-1983)Ccc>Tcc p.P661S MX1_uc002yzh.3_Missense_Mutation_p.P661S|MX1_uc002yzi.3_Missense_Mutation_p.P661S NM_001178046 NP_002453 P20591 MX1_HUMAN Homo sapiens myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse) (MX1), transcript variant 3, mRNA. 661 GED. induction of apoptosis|response to virus|type I interferon-mediated signaling pathway cytosol GTP binding|GTPase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 27 Prostate(19;3.18e-07)|all_epithelial(19;0.0277) TGCCCAGTTCCCCGGTTAACC 0.642000 51 9 0 0 1 0 0 ALDH1B1 219 broad.mit.edu 37 9 38396127 38396127 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr9:38396127G>A uc022bgy.1 + 0 382 c.382G>A c.(382-384)Ggg>Agg p.G128R ALDH1B1_uc004aay.3_Missense_Mutation_p.G128R NM_000692 NP_000683 P30837 AL1B1_HUMAN Homo sapiens aldehyde dehydrogenase 1 family, member B1 (ALDH1B1), nuclear gene encoding mitochondrial protein, mRNA. 128 carbohydrate metabolic process mitochondrial matrix|nucleus aldehyde dehydrogenase (NAD) activity NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2) 32 GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115) NADH(DB00157) CTTGGACAATGGGAAGCCTTT 0.577000 85 45 0 0 1 0 0 RARB 5915 broad.mit.edu 37 3 25542722 25542722 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr3:25542722G>A uc011awl.2 + 2 443 c.377G>A c.(376-378)cGa>cAa p.R126Q RARB_uc003cdi.2_Missense_Mutation_p.R7Q|RARB_uc003cdh.3_Missense_Mutation_p.R119Q NM_016152 NP_057236 P10826 RARB_HUMAN Homo sapiens retinoic acid receptor, beta (RARB), transcript variant 2, mRNA. 126 embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 28 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799) ACTTGTCACCGAGATAAGAAC 0.393000 37 13 0 0 1 0 0 MYT1L 23040 broad.mit.edu 37 2 1926436 1926436 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr2:1926436C>T uc002qxe.3 - 9 1932 c.1105G>A c.(1105-1107)Gga>Aga p.G369R MYT1L_uc002qxd.3_Missense_Mutation_p.G369R|MYT1L_uc010ewl.2_Non-coding_Transcript NM_015025 NP_055840 Q9UL68 MYT1L_HUMAN Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA. 369 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) GGCGTCCTTCCGGGGAAGTCC 0.602000 13 17 0 0 1 0 0 MYCT1 80177 broad.mit.edu 37 6 153043212 153043213 + Missense_Mutation DNP GT AA AA TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr6:153043212_153043213GT>AA uc003qpc.4 + 1 540_541 c.532_533GT>AA c.(532-534)gtg>AAg p.V178K NM_025107 NP_079383 Q8N699 MYCT1_HUMAN Homo sapiens myc target 1 (MYCT1), mRNA. 178 nucleus p.P177S(2) NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 20 Ovarian(120;0.0654) OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143) ACCACTTCCTGTGGAAACTGAG 0.490000 44 22 0 0 1 0 0 C9orf100 84904 broad.mit.edu 37 9 35663365 35663365 + Missense_Mutation SNP C A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr9:35663365C>A uc003zxm.1 - 4 610 c.498G>T c.(496-498)ttG>ttT p.L166F C9orf100_uc003zxl.3_Non-coding_Transcript|C9orf100_uc011loz.1_Missense_Mutation_p.L166F NM_032818 NP_116207 Q8N4T4 CI100_HUMAN Homo sapiens chromosome 9 open reading frame 100 (C9orf100), mRNA. 166 DH. regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity endometrium(1)|large_intestine(1) 2 all_epithelial(49;0.217) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) TGTTTTCAGCCAAAGCTACGA 0.547000 32 18 9.16793e-09 9.28711e-09 1 1 0 MFSD2B 388931 broad.mit.edu 37 2 24239823 24239823 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr2:24239823C>T uc002reo.2 + 3 470 c.456C>T c.(454-456)ttC>ttT p.F152F MFSD2B_uc010exz.2_Non-coding_Transcript NM_001080473 NP_001073942 A6NFX1 MFS2B_HUMAN Homo sapiens major facilitator superfamily domain containing 2B (MFSD2B), mRNA. 152 transport integral to membrane cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2) 10 ACTGCCTGTTCCAGGCCCTGG 0.647000 63 17 0 0 1 0 0 PLCB1 23236 broad.mit.edu 37 20 8352031 8352031 + Missense_Mutation SNP G C C TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr20:8352031G>C uc002wnb.3 + 2 183 c.180G>C c.(178-180)gaG>gaC p.E60D PLCB1_uc010zrb.1_5'UTR|PLCB1_uc010gbv.1_Missense_Mutation_p.E60D|PLCB1_uc002wmz.1_Missense_Mutation_p.E60D|PLCB1_uc002wna.3_Missense_Mutation_p.E60D NM_015192 NP_056007 Q9NQ66 PLCB1_HUMAN Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA. 60 CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission cytosol|nuclear chromatin|nuclear speck GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 95 CCTTCCAGGAGACAGAGCTAC 0.448000 52 32 0 0 1 0 0 RNASEL 6041 broad.mit.edu 37 1 182551334 182551334 + Silent SNP C A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:182551334C>A uc009wxz.2 - 3 1883 c.1626G>T c.(1624-1626)ctG>ctT p.L542L RNASEL_uc001gpk.3_Silent_p.L542L|RNASEL_uc009wya.1_3'UTR NM_021133 NP_066956 Q05823 RN5A_HUMAN Homo sapiens ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent) (RNASEL), mRNA. 542 Protein kinase. mRNA processing|response to virus|type I interferon-mediated signaling pathway mitochondrion ATP binding|RNA binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity p.L542L(2) NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1) 27 TTTGAGCTTTCAGATCCTCAA 0.448000 119 108 3.11409e-38 3.22224e-38 1 1 0 PCLO 27445 broad.mit.edu 37 7 82580559 82580559 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr7:82580559C>T uc003uhx.2 - 5 9634 c.9345G>A c.(9343-9345)gtG>gtA p.V3115V PCLO_uc003uhv.2_Silent_p.V3115V|PCLO_uc010lec.3_Silent_p.V80V NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA. 3046 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 ACAAATCCCTCACTGTGGTGC 0.448000 30 8 0 0 1 0 0 AVPR2 554 broad.mit.edu 37 X 153171269 153171269 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chrX:153171269C>T uc004fjh.4 + 1 481 c.309C>T c.(307-309)gaC>gaT p.D103D AVPR2_uc004fjg.4_Intron|AVPR2_uc004fji.3_Silent_p.D103D NM_000054 NP_000045 P30518 V2R_HUMAN Homo sapiens arginine vasopressin receptor 2 (AVPR2), transcript variant 1, mRNA. 103 G-protein signaling, coupled to cAMP nucleotide second messenger|activation of adenylate cyclase activity|excretion|hemostasis|positive regulation of gene expression|transmembrane transport|water transport Golgi apparatus|endoplasmic reticulum|endosome|integral to plasma membrane vasopressin receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1) 26 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067) AGGCCACCGACCGCTTCCGTG 0.627000 11 94 0 0 1 0 0 GRK4 2868 broad.mit.edu 37 4 2994003 2994003 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr4:2994003G>A uc003ggn.1 + 3 778 c.323G>A c.(322-324)aGa>aAa p.R108K GRK4_uc003ggo.1_Missense_Mutation_p.R108K|GRK4_uc003ggp.1_Missense_Mutation_p.R76K|GRK4_uc003ggq.1_Missense_Mutation_p.R76K NM_182982 NP_892027 P32298 GRK4_HUMAN Homo sapiens G protein-coupled receptor kinase 4 (GRK4), transcript variant 1, mRNA. 108 N-terminal.|RGS. cell cortex ATP binding|G-protein coupled receptor kinase activity|signal transducer activity lung(1)|upper_aerodigestive_tract(1) 2 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) ATCTTAGATAGATTCTTCAAT 0.338000 33 13 0 0 1 0 0 SREBF2 6721 broad.mit.edu 37 22 42276884 42276885 + Nonsense_Mutation DNP CC TT TT TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr22:42276884_42276885CC>TT uc003bbi.3 + 9 2095_2096 c.1926_1927CC>TT c.(1924-1929)ttccag>ttTTag p.Q643* bK250D10.C22.8_uc003bba.1_Intron|SREBF2_uc003bbj.3_Non-coding_Transcript NM_004599 NP_004590 Q12772 SRBP2_HUMAN Homo sapiens sterol regulatory element binding transcription factor 2 (SREBF2), mRNA. 643 cholesterol metabolic process ER to Golgi transport vesicle membrane|Golgi membrane|SREBP-SCAP-Insig complex|nucleus protein C-terminus binding NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 AGAAAGTCTTCCAGTGCCGGCG 0.653000 37 35 0 0 1 0 0 SLC12A7 10723 broad.mit.edu 37 5 1087107 1087107 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr5:1087107C>T uc003jbu.3 - 5 652 c.586G>A c.(586-588)Gag>Aag p.E196K NM_006598 NP_006589 Q9Y666 S12A7_HUMAN Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 7 (SLC12A7), mRNA. 196 potassium ion transport|sodium ion transport integral to plasma membrane potassium:chloride symporter activity breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 32 Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09) Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165) Potassium Chloride(DB00761) CCTCCAAACTCGGGTCCCAGC 0.607000 30 24 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13901544 13901544 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr5:13901544G>A uc003jfd.2 - 13 1911 c.1869C>T c.(1867-1869)atC>atT p.I623I NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 623 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TCTTTCCAGCGATGGGAGGCT 0.502000 Kartagener syndrome 38 8 0 0 1 0 0 UGT2B15 7366 broad.mit.edu 37 4 69533853 69533853 + Nonsense_Mutation SNP G A A rs145139175 TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr4:69533853G>A uc021xow.1 - 1 936 c.778C>T c.(778-780)Cga>Tga p.R260* NM_001076 NP_001067 P54855 UDB15_HUMAN Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B15 (UGT2B15), mRNA. 260 steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity CAATAGGTTCGAATGAGCCAC 0.398000 81 72 0 0 1 0 0 SPRR2B 6701 broad.mit.edu 37 1 153043153 153043153 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:153043153G>A uc001fbg.3 - 1 223 c.163C>T c.(163-165)Cct>Tct p.P55S SPRR2A_uc001fbf.3_Intron NM_001017418 NP_001017418 P35325 SPR2B_HUMAN Homo sapiens small proline-rich protein 2B (SPRR2B), mRNA. 55 keratinization cornified envelope|cytoplasm endometrium(2)|large_intestine(1)|lung(2) 5 Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) GTCACAGGAGGATATTTCTGC 0.557000 220 23 0 0 1 0 0 MYH11 4629 broad.mit.edu 37 16 15851693 15851693 + Silent SNP G T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr16:15851693G>T uc002ddx.3 - 13 1694 c.1587C>A c.(1585-1587)atC>atA p.I529I MYH11_uc002ddv.3_Silent_p.I529I|MYH11_uc002ddw.3_Silent_p.I522I|MYH11_uc002ddy.3_Silent_p.I522I|MYH11_uc010bvg.3_Silent_p.I354I|MYH11_uc002dea.1_Silent_p.I228I NM_001040114 NP_001035203 P35749 MYH11_HUMAN Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA. 522 Myosin head-like. axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1) 123 CCGGTCGCTCGATGAGCTCGA 0.627000 T CBFB AML 50 17 5.01169e-05 5.04657e-05 1 1 0 EEPD1 80820 broad.mit.edu 37 7 36194748 36194748 + Missense_Mutation SNP C G G TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr7:36194748C>G uc003tfa.3 + 1 1455 c.815C>G c.(814-816)tCc>tGc p.S272C NM_030636 NP_085139 Q7L9B9 EEPD1_HUMAN Homo sapiens endonuclease/exonuclease/phosphatase family domain containing 1 (EEPD1), mRNA. 272 DNA repair DNA binding endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1) 18 CAGGGCTGTTCCGTGGAGAAG 0.607000 44 20 0 0 1 0 0 LRRC55 219527 broad.mit.edu 37 11 56949593 56949593 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr11:56949593G>A uc001njl.2 + 0 373 c.226G>A c.(226-228)Gat>Aat p.D76N NM_001005210 NP_001005210 Q6ZSA7 LRC55_HUMAN Homo sapiens leucine rich repeat containing 55 (LRRC55), mRNA. 46 LRRNT. integral to membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2) 25 GATGCACTCGGATGCCGGCAC 0.632000 32 14 0 0 1 0 0 CRHBP 1393 broad.mit.edu 37 5 76251507 76251507 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr5:76251507G>A uc003ker.3 + 3 643 c.363G>A c.(361-363)gaG>gaA p.E121E CRHBP_uc010izx.3_Silent_p.E121E NM_001882 NP_001873 P24387 CRHBP_HUMAN Homo sapiens corticotropin releasing hormone binding protein (CRHBP), mRNA. 121 female pregnancy|learning or memory|signal transduction soluble fraction p.G120E(1) kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2) 16 all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11) OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41) TCAAGGGGGAGAAGTTCCCCA 0.448000 35 20 0 0 1 0 0 CYP2J2 1573 broad.mit.edu 37 1 60377919 60377919 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:60377919C>T uc001czq.3 - 2 443 c.438G>A c.(436-438)agG>agA p.R146R NM_000775 NP_000766 P51589 CP2J2_HUMAN Homo sapiens cytochrome P450, family 2, subfamily J, polypeptide 2 (CYP2J2), mRNA. 146 epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process endoplasmic reticulum membrane|microsome arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity p.L145L(1) NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1) 26 all_cancers(7;0.000396) AACCAAAGTTCCTTAGTGCTG 0.438000 60 19 0 0 1 0 0 POF1B 79983 broad.mit.edu 37 X 84563164 84563164 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chrX:84563164C>T uc004eer.2 - 9 1162 c.1016G>A c.(1015-1017)cGg>cAg p.R339Q POF1B_uc004ees.3_Missense_Mutation_p.R339Q NM_024921 NP_079197 Q8WVV4 POF1B_HUMAN Homo sapiens premature ovarian failure, 1B (POF1B), mRNA. 339 actin binding p.R339R(1) central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1) 35 AAGCTCCTCCCGTATGTTGCT 0.353000 31 7 0 0 1 0 0 ADCY8 114 broad.mit.edu 37 8 131949333 131949333 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr8:131949333C>T uc003ytd.4 - 4 1723 c.1467G>A c.(1465-1467)atG>atA p.M489I ADCY8_uc010mds.3_Missense_Mutation_p.M489I NM_001115 NP_001106 P40145 ADCY8_HUMAN Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA. 489 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) TGGTTTTGATCATGCTGAGAC 0.488000 HNSCC(32;0.087) 67 38 0 0 1 0 0 RFFL 117584 broad.mit.edu 37 17 33348624 33348624 + Silent SNP A T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr17:33348624A>T uc010cti.1 - 2 599 c.375T>A c.(373-375)tcT>tcA p.S125S RFFL_uc002hiq.2_Intron|RFFL_uc002him.1_Silent_p.S119S|RFFL_uc002hin.1_Silent_p.S119S|RFFL_uc002hip.2_Silent_p.S119S|RFFL_uc002hio.2_Silent_p.S119S NM_001017368 NP_001017368 Q8WZ73 RFFL_HUMAN Homo sapiens ring finger and FYVE-like domain containing 1 (RFFL), transcript variant 2, mRNA. 119 apoptosis membrane ligase activity|zinc ion binding kidney(1)|large_intestine(2)|lung(3) 6 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0227) ACATTTCGGTAGAGATGTCAT 0.547000 63 42 0 0 1 0 0 MYRIP 25924 broad.mit.edu 37 3 40251481 40251481 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr3:40251481C>T uc003cka.3 + 10 1937 c.1802C>T c.(1801-1803)tCa>tTa p.S601L MYRIP_uc010hhu.3_Non-coding_Transcript|MYRIP_uc010hhv.3_Missense_Mutation_p.S601L|MYRIP_uc010hhw.3_Missense_Mutation_p.S512L|MYRIP_uc011ayz.2_Missense_Mutation_p.S414L|FLJ33065_uc003ckb.3_Intron NM_015460 NP_056275 Q8NFW9 MYRIP_HUMAN Homo sapiens myosin VIIA and Rab interacting protein (MYRIP), mRNA. 601 Actin-binding. intracellular protein transport actin binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206) GAGACTTCTTCAGGGGAGGAT 0.507000 31 16 0 0 1 0 0 COL14A1 7373 broad.mit.edu 37 8 121228602 121228602 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr8:121228602C>T uc003yox.3 + 13 1875 c.1610C>T c.(1609-1611)cCa>cTa p.P537L COL14A1_uc003yoy.3_Missense_Mutation_p.P215L|COL14A1_uc010mde.1_Missense_Mutation_p.P215L NM_021110 NP_066933 Q05707 COEA1_HUMAN Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA. 537 Fibronectin type-III 4. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) GCTTTAAGTCCACCAAGAAAC 0.338000 45 30 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179477796 179477796 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr2:179477796G>A uc021vsy.1 - 213 42173 c.41948C>T c.(41947-41949)cCt>cTt p.P13983L MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.P7678L|TTN_uc021vta.1_Missense_Mutation_p.P7611L|TTN_uc021vtb.1_Missense_Mutation_p.P7486L NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 14910 Ig-like 95. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GGGCCATGGAGGATCTGCAAG 0.368000 31 12 0 0 1 0 0 MAPKBP1 23005 broad.mit.edu 37 15 42105202 42105202 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr15:42105202G>A uc001zok.4 + 7 1008 c.722G>A c.(721-723)aGa>aAa p.R241K MAPKBP1_uc010bci.3_Missense_Mutation_p.R241K|MAPKBP1_uc010udb.2_Missense_Mutation_p.R129K|MAPKBP1_uc001zoj.4_Missense_Mutation_p.R241K|MAPKBP1_uc010bcj.3_5'UTR|MAPKBP1_uc010bck.3_5'UTR|MAPKBP1_uc010bcl.3_5'UTR NM_001128608 NP_001122080 O60336 MABP1_HUMAN Homo sapiens mitogen-activated protein kinase binding protein 1 (MAPKBP1), transcript variant 2, mRNA. 241 breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225) GCCTGTGGCAGAGGAAAAAAG 0.577000 78 71 0 0 1 0 0 EFS 10278 broad.mit.edu 37 14 23828659 23828659 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr14:23828659C>T uc001wjo.3 - 3 1636 c.1028G>A c.(1027-1029)cGc>cAc p.R343H EFS_uc001wjp.3_Missense_Mutation_p.R250H|EFS_uc010tnm.2_Missense_Mutation_p.R174H NM_005864 NP_005855 O43281 EFS_HUMAN Homo sapiens embryonal Fyn-associated substrate (EFS), transcript variant 1, mRNA. 343 Pro-rich. cell adhesion|intracellular signal transduction cytoplasm SH3 domain binding p.R343L(2) endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2) 16 all_cancers(95;7.12e-06) GBM - Glioblastoma multiforme(265;0.00649) ACCAGGCAGGCGGGGTGGGGG 0.692000 40 14 0 0 1 0 0 WWP1 11059 broad.mit.edu 37 8 87439961 87439961 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr8:87439961C>T uc003ydt.3 + 10 1527 c.1247C>T c.(1246-1248)tCt>tTt p.S416F WWP1_uc010mai.3_Missense_Mutation_p.S192F NM_007013 NP_008944 Q9H0M0 WWP1_HUMAN Homo sapiens WW domain containing E3 ubiquitin protein ligase 1 (WWP1), mRNA. 416 central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex protein binding|ubiquitin-protein ligase activity endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1) 31 ACCATGGAATCTGTCCGAAAT 0.428000 107 20 0 0 1 0 0 ASIC1 41 broad.mit.edu 37 12 50452658 50452658 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr12:50452658G>A uc001rvv.3 + 1 338 c.109G>A c.(109-111)Gag>Aag p.E37K ASIC1_uc001rvw.3_Missense_Mutation_p.E37K|ASIC1_uc009zln.3_5'UTR|ASIC1_uc009zlo.3_Missense_Mutation_p.E37K NM_020039 NP_064423 P78348 ACCN2_HUMAN Homo sapiens amiloride-sensitive cation channel 2, neuronal (ACCN2), transcript variant 1, mRNA. 37 calcium ion transport|response to pH|signal transduction integral to plasma membrane ligand-gated sodium channel activity|protein binding Amiloride(DB00594) CTTCTCCTACGAGCGGCTGTC 0.652000 82 57 0 0 1 0 0 MS4A2 2206 broad.mit.edu 37 11 59861536 59861536 + Splice_Site SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr11:59861536G>A uc001nop.3 + 6 738 c.636_splice c.e6+1 p.K212_splice MS4A2_uc021qka.1_Splice_Site_p.K167_splice NM_000139 NP_000130 Q01362 FCERB_HUMAN Homo sapiens membrane-spanning 4-domains, subfamily A, member 2 (Fc fragment of IgE, high affinity I, receptor for; beta polypeptide) (MS4A2), mRNA. 212 cell proliferation|humoral immune response integral to plasma membrane calcium channel activity endometrium(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2) 17 all_epithelial(135;0.245) Omalizumab(DB00043) AGGAAACAAGGTAGATAGAAG 0.408000 6 23 0 0 1 0 0 LCE3D 84648 broad.mit.edu 37 1 152552305 152552305 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:152552305G>A uc021oza.1 - 0 108 c.108C>T c.(106-108)ggC>ggT p.G36G LCE3D_uc001fab.3_Silent_p.G36G NM_032563 NP_115952 Q9BYE3 LCE3D_HUMAN Homo sapiens late cornified envelope 3D (LCE3D), mRNA. 36 keratinization breast(1)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|stomach(2) 15 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0323)|Kidney(5;0.0378) TTGGGGCACAGCCAGAGGAAG 0.662000 127 70 0 0 1 0 0 TBC1D8B 54885 broad.mit.edu 37 X 106070458 106070458 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chrX:106070458G>A uc004emo.3 + 6 1259 c.1094G>A c.(1093-1095)gGa>gAa p.G365E MORC4_uc004emp.4_Intron|TBC1D8B_uc004emm.3_Missense_Mutation_p.G365E|TBC1D8B_uc004emn.3_Missense_Mutation_p.G365E NM_017752 NP_060222 Q0IIM8 TBC8B_HUMAN Homo sapiens TBC1 domain family, member 8B (with GRAM domain) (TBC1D8B), transcript variant 1, mRNA. 365 intracellular Rab GTPase activator activity|calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 AGCATCAAAGGAAAAACAGCT 0.368000 15 131 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158584077 158584077 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:158584077C>T uc001fst.1 - 48 7007 c.6808G>A c.(6808-6810)Gaa>Aaa p.E2270K NM_003126 NP_003117 P02549 SPTA1_HUMAN Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA. 2270 actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) AGAGTCTCTTCACTCACACCT 0.333000 25 21 0 0 1 0 0 CROT 54677 broad.mit.edu 37 7 86998794 86998794 + Missense_Mutation SNP T C C TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr7:86998794T>C uc003uiu.3 + 7 979 c.734T>C c.(733-735)cTt>cCt p.L245P CROT_uc003uit.3_Missense_Mutation_p.L217P NM_001143935 NP_001137407 Q9UKG9 OCTC_HUMAN Homo sapiens carnitine O-octanoyltransferase (CROT), transcript variant 1, mRNA. 217 fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport peroxisomal matrix carnitine O-octanoyltransferase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203) L-Carnitine(DB00583) CCGCCAGAGCTTCTCAGGTTT 0.413000 85 74 0 0 1 0 0 TRAPPC3 27095 broad.mit.edu 37 1 36602824 36602824 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:36602824G>A uc001bzx.3 - 4 611 c.523C>T c.(523-525)Ctt>Ttt p.L175F NM_014408 NP_055223 O43617 TPPC3_HUMAN Homo sapiens trafficking protein particle complex 3 (TRAPPC3), mRNA. 175 endoplasmic reticulum guanylate cyclase activity|heme binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1) 4 Myeloproliferative disorder(586;0.0393) CCAGCTGGAAGATTGTCCTCA 0.542000 48 13 0 0 1 0 0 SLC7A9 11136 broad.mit.edu 37 19 33355544 33355544 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr19:33355544C>T uc002ntv.4 - 2 343 c.226G>A c.(226-228)Gcg>Acg p.A76T SLC7A9_uc002ntt.4_Intron|SLC7A9_uc002ntu.4_Missense_Mutation_p.A76T|SLC7A9_uc021usa.1_Missense_Mutation_p.A76T|SLC7A9_uc002ntw.4_Intron NM_001126335 NP_055085 P82251 BAT1_HUMAN Homo sapiens solute carrier family 7 (glycoprotein-associated amino acid transporter light chain, bo,+ system), member 9 (SLC7A9), transcript variant 2, mRNA. 76 blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly integral to plasma membrane L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 32 Esophageal squamous(110;0.137) L-Cystine(DB00138) CCCAGCGTCGCGAGGACCCCG 0.627000 82 25 0 0 1 0 0 TACC2 10579 broad.mit.edu 37 10 123846757 123846757 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr10:123846757C>T uc001lfv.3 + 3 5102 c.4742C>T c.(4741-4743)cCc>cTc p.P1581L TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Missense_Mutation_p.P1581L|TACC2_uc010qtv.2_Missense_Mutation_p.P1581L NM_206862 NP_996744 O95359 TACC2_HUMAN Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA. 1581 microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) CAGGTGGCTCCCCATAGCCAT 0.567000 23 12 0 0 1 0 0 TIAM1 7074 broad.mit.edu 37 21 32624359 32624359 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr21:32624359G>A uc002yow.1 - 5 1582 c.1110C>T c.(1108-1110)agC>agT p.S370S TIAM1_uc011adk.1_Silent_p.S370S|TIAM1_uc011adl.1_Silent_p.S370S|TIAM1_uc002yox.1_5'UTR NM_003253 NP_003244 Q13009 TIAM1_HUMAN Homo sapiens T-cell lymphoma invasion and metastasis 1 (TIAM1), mRNA. 370 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2) 115 AGCTGCTGCCGCTGTCGCTGC 0.652000 138 86 0 0 1 0 0 GPR146 115330 broad.mit.edu 37 7 1097586 1097586 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr7:1097586G>A uc003sjx.4 + 1 634 c.435G>A c.(433-435)cgG>cgA p.R145R C7orf50_uc003sju.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron|GPR146_uc003sjy.1_Silent_p.R145R NM_138445 NP_612454 Q96CH1 GP146_HUMAN Homo sapiens G protein-coupled receptor 146 (GPR146), mRNA. 145 integral to membrane|plasma membrane G-protein coupled receptor activity autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|ovary(1)|skin(1) 8 Ovarian(82;0.0779) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15) ACAACACGCGGCACGTGTGCG 0.647000 86 15 0 0 1 0 0 ZNF846 162993 broad.mit.edu 37 19 9874043 9874043 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr19:9874043C>T uc002mmb.1 - 2 588 c.57G>A c.(55-57)caG>caA p.Q19Q ZNF846_uc021uoq.1_Non-coding_Transcript|ZNF846_uc010dww.3_Intron|ZNF846_uc002mmc.1_5'UTR NM_001077624 NP_001071092 Q147U1 ZN846_HUMAN Homo sapiens zinc finger protein 846 (ZNF846), mRNA. 19 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 22 TCCACTCCTCCTGGGTAAAGT 0.428000 112 71 0 0 1 0 0 MAGEB2 4113 broad.mit.edu 37 X 30237172 30237172 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chrX:30237172G>A uc022buf.1 + 0 475 c.475G>A c.(475-477)Ggc>Agc p.G159S MAGEB2_uc004dbz.3_Missense_Mutation_p.G159S NM_002364 NP_002355 O15479 MAGB2_HUMAN Homo sapiens melanoma antigen family B, 2 (MAGEB2), mRNA. 159 MAGE. protein binding p.G159C(3) breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1) 23 AGCCTCTGAGGGCCTCAGTGT 0.458000 2 24 0 0 1 0 0 FMO3 2328 broad.mit.edu 37 1 171086452 171086452 + Nonsense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:171086452G>A uc001ghi.3 + 8 1580 c.1469G>A c.(1468-1470)tGg>tAg p.W490* FMO3_uc001ghh.3_Nonsense_Mutation_p.W490*|FMO3_uc010pmb.2_Nonsense_Mutation_p.W470*|FMO3_uc010pmc.2_Nonsense_Mutation_p.W427* NM_001002294 NP_008825 P31513 FMO3_HUMAN Homo sapiens flavin containing monooxygenase 3 (FMO3), transcript variant 2, mRNA. 490 xenobiotic metabolic process integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2) 31 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) CTGACCCAGTGGGACCGGTCG 0.527000 65 25 0 0 1 0 0 ALK 238 broad.mit.edu 37 2 29754979 29754979 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr2:29754979G>A uc002rmy.3 - 3 1908 c.956C>T c.(955-957)tCc>tTc p.S319F NM_004304 NP_004295 Q9UM73 ALK_HUMAN Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA. 319 MAM 1. protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9) NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2) 340 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) AAGGAGAAAGGAGCCTGGAAA 0.522000 """T, Mis, A""" """NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22""" """ALCL, NSCLC, Neuroblastoma""" neuroblastoma Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 23 24 0 0 1 0 0 ICAM4 3386 broad.mit.edu 37 19 10397732 10397732 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr19:10397732C>T uc002mnr.2 + 0 90 c.44C>T c.(43-45)gCc>gTc p.A15V ICAM4_uc002mns.2_Missense_Mutation_p.A15V|ICAM4_uc002mnt.2_Missense_Mutation_p.A15V|ICAM5_uc002mnu.4_5'Flank NM_001039132 NP_001034221 Q14773 ICAM4_HUMAN Homo sapiens intercellular adhesion molecule 4 (Landsteiner-Wiener blood group) (ICAM4), transcript variant 3, mRNA. 15 AAAYPGVGSALGRRTK -> RPPTRELGARWDAGL (in Ref. 1; AAA59538/AAA59537). cell-cell adhesion|regulation of immune response extracellular region|integral to membrane|plasma membrane integrin binding breast(1)|large_intestine(3)|lung(2)|pancreas(1) 7 OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06) TTTTTGGCGGCCGCCTACCCG 0.672000 8 10 0 0 1 0 0 NLRP2 55655 broad.mit.edu 37 19 55494041 55494041 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr19:55494041G>A uc021vbq.1 + 5 1086 c.975G>A c.(973-975)gtG>gtA p.V325V NLRP2_uc010yfp.2_Silent_p.V302V|NLRP2_uc002qij.3_Silent_p.V325V|NLRP2_uc010esp.3_Silent_p.V303V|NLRP2_uc010esn.3_Silent_p.V301V|NLRP2_uc010eso.3_Silent_p.V322V NM_001174081 NP_060322 Q9NX02 NALP2_HUMAN Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA. 325 NACHT. apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 11 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) TGAACAGGGTGATGTTACCCA 0.662000 43 14 0 0 1 0 0 SLC5A10 125206 broad.mit.edu 37 17 18874357 18874357 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr17:18874357G>A uc002gut.1 + 7 713 c.672G>A c.(670-672)ctG>ctA p.L224L SLC5A10_uc002gur.1_Silent_p.L141L|SLC5A10_uc002guu.1_Silent_p.L224L|SLC5A10_uc002guv.1_Silent_p.L197L|SLC5A10_uc010vyl.1_Silent_p.L224L NM_152351 NP_689564 A0PJK1 SC5AA_HUMAN Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 10 (SLC5A10), transcript variant 1, mRNA. 224 sodium ion transport|transmembrane transport integral to membrane transporter activity central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3) 24 ACGGGCAGCTGGAGGCAGCCT 0.632000 90 19 0 0 1 0 0 MYBPC3 4607 broad.mit.edu 37 11 47361245 47361245 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr11:47361245C>T uc021qis.1 - 20 2079 c.2024G>A c.(2023-2025)gGg>gAg p.G675E MYBPC3_uc021qir.1_Missense_Mutation_p.G327E|MYBPC3_uc010rhl.2_Non-coding_Transcript NM_000256 NP_000247 Q14896 MYPC3_HUMAN Homo sapiens myosin binding protein C, cardiac (MYBPC3), mRNA. 674 Ig-like C2-type 5. cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis C zone|cytosol|striated muscle myosin thick filament ATPase activator activity|actin binding|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2) 42 Lung(87;0.176) AGCAGGGTCCCCAGAGATAGG 0.567000 10 15 0 0 1 0 0 POU5F1P3 642559 broad.mit.edu 37 12 8287264 8287264 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr12:8287264G>A uc010sgi.2 - 0 185 c.184C>T c.(184-186)Cca>Tca p.P62S CLEC4A_uc001qtz.1_Intron|CLEC4A_uc009zga.1_Intron|CLEC4A_uc001qub.1_Intron|CLEC4A_uc001quc.1_Intron|CLEC4A_uc009zgb.1_Intron|POU5F1P3_uc010sgj.1_Non-coding_Transcript Homo sapiens POU class 5 homeobox 1 pseudogene 3 (POU5F1P3), non-coding RNA. GGGGGACATGGGGGAATCCCC 0.657000 7 10 0 0 1 0 0 LRIG2 9860 broad.mit.edu 37 1 113657280 113657280 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:113657280C>T uc001edf.1 + 14 2510 c.2312C>T c.(2311-2313)aCc>aTc p.T771I LRIG2_uc009wgn.1_Missense_Mutation_p.T668I NM_014813 NP_055628 O94898 LRIG2_HUMAN Homo sapiens leucine-rich repeats and immunoglobulin-like domains 2 (LRIG2), mRNA. 771 Ig-like C2-type 3. cytoplasm|integral to membrane|plasma membrane breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1) 31 Lung SC(450;0.246) all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986) Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15) ATGTCTAACACCCTTGGGACA 0.468000 62 60 0 0 1 0 0 TNR 7143 broad.mit.edu 37 1 175363020 175363020 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:175363020G>A uc001gkp.1 - 3 1333 c.1252C>T c.(1252-1254)Cct>Tct p.P418S TNR_uc009wwu.1_Missense_Mutation_p.P418S|TNR_uc010pmz.1_3'UTR NM_003285 NP_003276 Q92752 TENR_HUMAN Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA. 418 Fibronectin type-III 2. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) AGCCCTTGAGGAGTGGAGAGA 0.512000 78 85 0 0 1 0 0 IMPDH2 3615 broad.mit.edu 37 3 49065152 49065152 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr3:49065152G>A uc003cvt.3 - 4 614 c.522C>T c.(520-522)ttC>ttT p.F174F NM_000884 NP_000875 P12268 IMDH2_HUMAN Homo sapiens IMP (inosine 5'-monophosphate) dehydrogenase 2 (IMPDH2), mRNA. 174 GMP biosynthetic process|purine base metabolic process cytosol|nucleus IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|stomach(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157) CCTCTTCCAAGAAACAGTCAT 0.522000 42 20 0 0 1 0 0 CNTN4 152330 broad.mit.edu 37 3 3076356 3076356 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr3:3076356C>T uc003bpc.3 + 16 2163 c.1824C>T c.(1822-1824)atC>atT p.I608I CNTN4_uc003bpb.1_Silent_p.I279I|CNTN4_uc021wsg.1_Silent_p.I608I|CNTN4_uc003bpd.1_Silent_p.I608I|CNTN4_uc003bpe.3_Silent_p.I280I|CNTN4_uc003bpf.3_Silent_p.I279I NM_175607 NP_783302 Q8IWV2 CNTN4_HUMAN Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA. 608 Fibronectin type-III 1. axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity anchored to membrane|axon|extracellular region|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 61 Ovarian(110;0.156) Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01) TAGACGAAATCACAGATACCA 0.542000 25 12 0 0 1 0 0 ACSM2A 123876 broad.mit.edu 37 16 20497956 20497956 + Nonsense_Mutation SNP C T T rs143956389 TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr16:20497956C>T uc010bwe.3 + 14 1929 c.1690C>T c.(1690-1692)Cga>Tga p.R564* ACSM2A_uc002dhf.4_Nonsense_Mutation_p.R564*|ACSM2A_uc002dhg.4_Nonsense_Mutation_p.R564*|ACSM2A_uc010vay.2_Nonsense_Mutation_p.R485*|ACSM2A_uc002dhh.4_Nonsense_Mutation_p.R194*|AX747287_uc002dhi.1_5'Flank NM_001010845 NP_001010845 Q08AH3 ACS2A_HUMAN Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA. 564 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1) 51 AGCCAAGCTTCGAGACAAGGA 0.458000 85 78 0 0 1 0 0 XKR7 343702 broad.mit.edu 37 20 30556418 30556419 + Missense_Mutation DNP CC TG TG TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr20:30556418_30556419CC>TG uc002wxe.3 + 0 614_615 c.440_441CC>TG c.(439-441)gcc>gTG p.A147V NM_001011718 NP_001011718 Q5GH72 XKR7_HUMAN Homo sapiens XK, Kell blood group complex subunit-related family, member 7 (XKR7), mRNA. 147 integral to membrane p.A147T(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 34 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) AGCGCCGGCGCCTTCCGGACCA 0.733000 20 14 0 0 1 0 0 CTCF 10664 broad.mit.edu 37 16 67644819 67644819 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr16:67644819C>T uc002etl.3 + 2 528 c.84C>T c.(82-84)cgC>cgT p.R28R CTCF_uc010cek.3_Intron NM_006565 NP_001177951 P49711 CTCF_HUMAN Homo sapiens CCCTC-binding factor (zinc finger protein) (CTCF), transcript variant 1, mRNA. 28 chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 79 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577) ACCAGAGACGCCGGGAAGGGG 0.517000 57 21 0 0 1 0 0 TBC1D3P2 440452 broad.mit.edu 37 17 60342234 60342234 + RNA SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr17:60342234C>T uc010woz.2 - 13 c.1895G>A Homo sapiens TBC1 domain family, member 3 pseudogene 2 (TBC1D3P2), non-coding RNA. breast(2)|kidney(1)|lung(2) 5 GTCTGGTGTGCTCCATCTCTG 0.498000 36 6 0 0 1 0 0 WDR88 126248 broad.mit.edu 37 19 33647270 33647270 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr19:33647270C>T uc002nui.3 + 6 897 c.819C>T c.(817-819)tcC>tcT p.S273S NM_173479 NP_775750 Q6ZMY6 WDR88_HUMAN Homo sapiens WD repeat domain 88 (WDR88), mRNA. 273 breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 25 Esophageal squamous(110;0.137) GGGCACATTCCAATGCAATCT 0.473000 62 20 0 0 1 0 0 PGLYRP4 57115 broad.mit.edu 37 1 153309739 153309739 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:153309739C>T uc001fbo.3 - 7 926 c.861G>A c.(859-861)ggG>ggA p.G287G PGLYRP4_uc001fbp.3_Silent_p.G283G NM_020393 NP_065126 Q96LB8 PGRP4_HUMAN Homo sapiens peptidoglycan recognition protein 4 (PGLYRP4), mRNA. 287 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1) 23 all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.171) TCCAGCCCACCCCTTCATAAA 0.532000 24 31 0 0 1 0 0 TLN2 83660 broad.mit.edu 37 15 62945423 62945423 + Missense_Mutation SNP G C C TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr15:62945423G>C uc002alb.4 + 3 427 c.427G>C c.(427-429)Gga>Cga p.G143R NM_015059 NP_055874 Q9Y4G6 TLN2_HUMAN Homo sapiens talin 2 (TLN2), mRNA. 143 FERM. cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5) 99 GAAAGAGGAAGGAACGGGCAC 0.348000 18 7 0 0 1 0 0 WDFY3 23001 broad.mit.edu 37 4 85707256 85707256 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr4:85707256G>A uc003hpd.3 - 23 4346 c.3938C>T c.(3937-3939)cCt>cTt p.P1313L NM_014991 NP_055806 Q8IZQ1 WDFY3_HUMAN Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA. 1313 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) TAATGACACAGGGGATGGCAC 0.388000 59 14 0 0 1 0 0 CACNA1A 773 broad.mit.edu 37 19 13428129 13428129 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr19:13428129G>A uc002mwy.3 - 10 1588 c.1352C>T c.(1351-1353)cCc>cTc p.P451L CACNA1A_uc010dzc.2_5'UTR|CACNA1A_uc010xnd.2_Missense_Mutation_p.P451L|CACNA1A_uc021ups.1_Missense_Mutation_p.P451L|CACNA1A_uc010xne.2_Missense_Mutation_p.P451L|CACNA1A_uc010dze.2_Missense_Mutation_p.P451L|CACNA1A_uc021upt.1_Missense_Mutation_p.P452L NM_001127222 NP_001120694 O00555 CAC1A_HUMAN Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA. 452 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) TCGGGCGAAGGGAGAACCTGC 0.498000 18 9 0 0 1 0 0 CYP4F22 126410 broad.mit.edu 37 19 15655083 15655083 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr19:15655083C>T uc002nbh.4 + 9 1296 c.1129C>T c.(1129-1131)Ctg>Ttg p.L377L NM_173483 NP_775754 Q6NT55 CP4FN_HUMAN Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 22 (CYP4F22), mRNA. 377 endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1) 37 GCTGGAGGAGCTGGAGTGGTG 0.542000 24 21 0 0 1 0 0 KIAA1715 80856 broad.mit.edu 37 2 176844545 176844545 + Silent SNP T C C TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr2:176844545T>C uc010fqw.1 - 4 507 c.507A>G c.(505-507)gaA>gaG p.E169E KIAA1715_uc010zes.1_Silent_p.E105E|KIAA1715_uc002ukd.1_5'UTR|KIAA1715_uc002ukc.1_Silent_p.E103E|KIAA1715_uc010zer.1_Silent_p.E103E|KIAA1715_uc010zet.1_Non-coding_Transcript Q9C0E8 LNP_HUMAN Homo sapiens KIAA1715 (KIAA1715), mRNA. 103 integral to membrane protein binding p.Q168L(1) endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1) 20 OV - Ovarian serous cystadenocarcinoma(117;0.0793) TACTATTTCTTTCTGTTCTCT 0.269000 5 7 0 0 1 0 0 MAGEC1 9947 broad.mit.edu 37 X 140993835 140993835 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chrX:140993835G>A uc004fbt.3 + 3 969 c.645G>A c.(643-645)caG>caA p.Q215Q MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_5'UTR NM_005462 NP_005453 O60732 MAGC1_HUMAN Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA. 215 protein binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) GTATTTTCCAGAGTTCCCCTG 0.502000 HNSCC(15;0.026) 158 114 0 0 1 0 0 SCN5A 6331 broad.mit.edu 37 3 38627416 38627416 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr3:38627416G>A uc021wvo.1 - 14 2605 c.2553C>T c.(2551-2553)ttC>ttT p.F851F SCN5A_uc021wvk.1_Silent_p.F851F|SCN5A_uc021wvl.1_Silent_p.F851F|SCN5A_uc021wvm.1_Silent_p.F851F|SCN5A_uc021wvn.1_Silent_p.F851F|SCN5A_uc021wvp.1_Silent_p.F851F|SCN5A_uc021wvq.1_Silent_p.F851F|SCN5A_uc021wvr.1_Silent_p.F851F|SCN5A_uc021wvs.1_Silent_p.F851F|SCN5A_uc021wvt.1_Silent_p.F851F|SCN5A_uc021wvu.1_Silent_p.F851F|SCN5A_uc021wvv.1_Silent_p.F851F|SCN5A_uc021wvj.1_Silent_p.F717F|SCN5A_uc021wvi.1_Silent_p.F717F|SCN5A_uc021wvw.1_Silent_p.F462F NM_198056 NP_932173 Q14524 SCN5A_HUMAN Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA. 851 F -> L (in BRS1). blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity p.V850M(1) NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) CAGCAAAGATGAACACGATGA 0.562000 52 21 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38820524 38820524 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr6:38820524G>A uc021yzh.1 + 39 5630 c.5521G>A c.(5521-5523)Gac>Aac p.D1841N DNAH8_uc003ooe.2_Missense_Mutation_p.D1624N NM_001206927 NP_001193856 Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA. NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 TCATGCAAAAGACTATGATCG 0.368000 70 29 0 0 1 0 0 GADL1 339896 broad.mit.edu 37 3 30885737 30885737 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr3:30885737C>T uc003cep.2 - 7 798 c.751G>A c.(751-753)Gaa>Aaa p.E251K GADL1_uc003ceq.1_Missense_Mutation_p.E251K NM_207359 NP_997242 Q6ZQY3 GADL1_HUMAN Homo sapiens glutamate decarboxylase-like 1 (GADL1), mRNA. 251 carboxylic acid metabolic process carboxy-lyase activity|pyridoxal phosphate binding breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1) 25 Pyridoxal Phosphate(DB00114) TTCTCCAGTTCCTCAGGTATC 0.438000 64 28 0 0 1 0 0 TUBG2 27175 broad.mit.edu 37 17 40818364 40818365 + Missense_Mutation DNP CC TT TT TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr17:40818364_40818365CC>TT uc010wgr.2 + 9 1276_1277 c.1020_1021CC>TT c.(1018-1023)atccgg>atTTgg p.R341W TUBG2_uc002iap.3_Missense_Mutation_p.R188W NM_016437 NP_057521 Q9NRH3 TBG2_HUMAN Homo sapiens tubulin, gamma 2 (TUBG2), mRNA. 341 G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization cytosol GTP binding|GTPase activity|structural molecule activity p.R341P(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1) 15 Breast(137;0.00116) BRCA - Breast invasive adenocarcinoma(366;0.141) TGCAGAGGATCCGGGAACGGAA 0.673000 61 15 0 0 1 0 0 KIF9 64147 broad.mit.edu 37 3 47288931 47288931 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr3:47288931C>T uc010hjp.3 - 12 1769 c.1165G>A c.(1165-1167)Gaa>Aaa p.E389K KIF9_uc003cqx.3_Missense_Mutation_p.E389K|KIF9_uc003cqy.3_Missense_Mutation_p.E389K|KIF9_uc011bat.1_Non-coding_Transcript|KIF9_uc011bau.1_Non-coding_Transcript NM_001134878 NP_878905 Q9HAQ2 KIF9_HUMAN Homo sapiens kinesin family member 9 (KIF9), transcript variant 4, mRNA. 389 blood coagulation|microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2) 34 Acute lymphoblastic leukemia(5;0.164) BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007) ATCTGGATTTCATCCATGGGG 0.537000 31 20 0 0 1 0 0 SRSF6 6431 broad.mit.edu 37 20 42088512 42088512 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr20:42088512C>T uc010zwg.2 + 2 528 c.358C>T c.(358-360)Cgg>Tgg p.R120W SRSF6_uc002xki.3_5'UTR NM_006275 NP_006266 Q13247 SRSF6_HUMAN Homo sapiens serine/arginine-rich splicing factor 6 (SRSF6), transcript variant 1, mRNA. 120 RRM 2. mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription nucleoplasm RNA binding|nucleotide binding|protein binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2) 5 TCTTTCTAGTCGGTGCAGTTG 0.378000 49 36 0 0 1 0 0 HERC2 8924 broad.mit.edu 37 15 28413670 28413670 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr15:28413670G>A uc001zbj.3 - 66 10402 c.10296C>T c.(10294-10296)tcC>tcT p.S3432S NM_004667 NP_004658 O95714 HERC2_HUMAN Homo sapiens hect domain and RLD 2 (HERC2), mRNA. 3432 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) GGGCCGCCGAGGAGAACGAGG 0.592000 61 16 0 0 1 0 0 DEPDC5 9681 broad.mit.edu 37 22 32194572 32194572 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr22:32194572C>T uc011alu.2 + 13 1078 c.876C>T c.(874-876)ggC>ggT p.G292G DEPDC5_uc011als.2_Silent_p.G292G|DEPDC5_uc003als.3_Silent_p.G292G|DEPDC5_uc011alv.2_Non-coding_Transcript|DEPDC5_uc003alt.3_Silent_p.G292G|DEPDC5_uc003alr.2_Silent_p.G292G|DEPDC5_uc011alt.2_Silent_p.G264G NM_001242896 NP_001229825 O75140 DEPD5_HUMAN Homo sapiens DEP domain containing 5 (DEPDC5), transcript variant 4, mRNA. 292 intracellular signal transduction breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 63 CTTCAGAGGGCTTTCCTCAAG 0.428000 7 15 0 0 1 0 0 FAM13A 10144 broad.mit.edu 37 4 89668818 89668818 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr4:89668818C>T uc003hse.1 - 17 2554 c.2346G>A c.(2344-2346)gaG>gaA p.E782E FAM13A_uc003hsa.1_Silent_p.E253E|FAM13A_uc003hsb.1_Silent_p.E456E|FAM13A_uc003hsd.1_Silent_p.E456E|FAM13A_uc003hsc.1_Silent_p.E442E|FAM13A_uc011cdq.1_Silent_p.E428E|FAM13A_uc003hsf.1_Silent_p.E368E|FAM13A_uc003hsg.1_Silent_p.E253E NM_014883 NP_055698 O94988 FA13A_HUMAN Homo sapiens family with sequence similarity 13, member A (FAM13A), transcript variant 1, mRNA. 782 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 55 CCGCTCGCTTCTCCTGGAGCT 0.483000 115 83 0 0 1 0 0 SCP2 6342 broad.mit.edu 37 1 53453764 53453764 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:53453764C>T uc001cur.2 + 10 1205 c.1037C>T c.(1036-1038)cCt>cTt p.P346L SCP2_uc010ono.2_Missense_Mutation_p.P265L|SCP2_uc010onp.2_Missense_Mutation_p.P322L|SCP2_uc009vzi.2_Missense_Mutation_p.P302L|SCP2_uc001cus.2_5'UTR|SCP2_uc001cuq.2_Missense_Mutation_p.P302L NM_002979 NP_001180546 P22307 NLTP_HUMAN Homo sapiens sterol carrier protein 2 (SCP2), transcript variant 1, mRNA. 346 bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|lipid transport mitochondrion|nucleus|peroxisomal matrix propanoyl-CoA C-acyltransferase activity|propionyl-CoA C2-trimethyltridecanoyltransferase activity|protein binding|sterol binding breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1) 15 GTCATAAATCCTAGTGGTGGA 0.358000 33 22 0 0 1 0 0 EDDM3B 64184 broad.mit.edu 37 14 21238600 21238600 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr14:21238600G>A uc021ron.1 + 0 291 c.291G>A c.(289-291)caG>caA p.Q97Q EDDM3B_uc001vyd.3_Silent_p.Q97Q NM_022360 NP_071755 P56851 EP3B_HUMAN Homo sapiens epididymal protein 3B (EDDM3B), mRNA. 97 spermatid development extracellular region central_nervous_system(1)|kidney(1)|lung(3)|ovary(1)|skin(1) 7 TATGGGTCCAGAATCCTCTCA 0.418000 55 17 0 0 1 0 0 WISP2 8839 broad.mit.edu 37 20 43348738 43348738 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr20:43348738G>A uc002xmp.3 + 1 408 c.261G>A c.(259-261)cgG>cgA p.R87R LOC79015_uc002xml.1_Intron|WISP2_uc002xmo.1_Silent_p.R87R|WISP2_uc002xmq.3_Silent_p.R87R NM_003881 NP_003872 O76076 WISP2_HUMAN Homo sapiens WNT1 inducible signaling pathway protein 2 (WISP2), mRNA. 87 IGFBP N-terminal. cell adhesion|cell-cell signaling|signal transduction extracellular region|soluble fraction insulin-like growth factor binding skin(1) 1 Myeloproliferative disorder(115;0.0122) CCGGTGGCCGGGGGGCCCTGT 0.701000 9 3 0 0 1 0 0 PMS2P4 5382 broad.mit.edu 37 7 66764385 66764385 + RNA SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr7:66764385G>A uc003tvo.2 - 1 c.71C>T PMS2P4_uc003tvq.3_Non-coding_Transcript|PMS2P4_uc003tvr.4_Non-coding_Transcript|PMS2P4_uc003tvs.4_Non-coding_Transcript Homo sapiens postmeiotic segregation increased 2 pseudogene 4 (PMS2P4), non-coding RNA. CCGATCGATAGGTTTGATGGC 0.423000 242 52 0 0 1 0 0 ZNF346 23567 broad.mit.edu 37 5 176477759 176477760 + Nonsense_Mutation DNP CC TT TT TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr5:176477759_176477760CC>TT uc003mfk.1 + 5 643_644 c.600_601CC>TT c.(598-603)caccag>caTTag p.Q201* ZNF346_uc003mfi.3_Nonsense_Mutation_p.Q176*|ZNF346_uc011dfr.2_Nonsense_Mutation_p.Q144*|ZNF346_uc011dfs.2_Nonsense_Mutation_p.Q78*|ZNF346_uc011dft.1_Intron NM_012279 NP_036411 Q9UL40 ZN346_HUMAN Homo sapiens zinc finger protein 346 (ZNF346), mRNA. 176 cytoplasm|nucleolus double-stranded RNA binding|zinc ion binding endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1) 14 all_cancers(89;6.3e-05)|Renal(175;0.000269)|Lung NSC(126;0.00476)|all_lung(126;0.00806) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TAGCCTTGCACCAGAATAGAGA 0.460000 61 56 0 0 1 0 0 PKN3 29941 broad.mit.edu 37 9 131482500 131482500 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr9:131482500G>A uc004bvw.3 + 20 2788 c.2395G>A c.(2395-2397)Gag>Aag p.E799K PKN3_uc010myh.3_Missense_Mutation_p.E799K|PKN3_uc022bom.1_Non-coding_Transcript NM_013355 NP_037487 Q6P5Z2 PKN3_HUMAN Homo sapiens protein kinase N3 (PKN3), mRNA. 799 Protein kinase. signal transduction Golgi apparatus|nucleus|perinuclear region of cytoplasm ATP binding|protein binding|protein kinase C activity breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 24 GAAGTGCCCGGAGAAGCGCCT 0.657000 17 9 0 0 1 0 0 PRG4 10216 broad.mit.edu 37 1 186276075 186276075 + Silent SNP T C C TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:186276075T>C uc001gru.4 + 6 1275 c.1224T>C c.(1222-1224)acT>acC p.T408T MIR548F1_uc021pgf.1_Intron|PRG4_uc001grt.4_Silent_p.T367T|PRG4_uc009wyl.3_Silent_p.T315T|PRG4_uc009wym.3_Silent_p.T274T|PRG4_uc010poo.2_Non-coding_Transcript NM_005807 NP_005798 Q92954 PRG4_HUMAN Homo sapiens proteoglycan 4 (PRG4), transcript variant A, mRNA. 408 59 X 8 AA repeats of K-X-P-X-P-T-T-X. cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity p.T408T(2) NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 CACCCACCACTCCCAAGGAGC 0.662000 233 14 0 0 1 0 0 SLC24A1 9187 broad.mit.edu 37 15 65916421 65916421 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr15:65916421G>A uc010ujf.2 + 1 290 c.3G>A c.(1-3)atG>atA p.M1I SLC24A1_uc010ujd.1_Missense_Mutation_p.M1I|SLC24A1_uc010uje.1_Missense_Mutation_p.M1I|SLC24A1_uc010ujg.2_Missense_Mutation_p.M1I|SLC24A1_uc010ujh.2_Missense_Mutation_p.M1I NM_004727 NP_004718 O60721 NCKX1_HUMAN Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 (SLC24A1), transcript variant 1, mRNA. 1 response to light intensity|visual perception integral to plasma membrane|membrane fraction|outer membrane calcium, potassium:sodium antiporter activity|protein binding|symporter activity breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 TGGCCAGCATGGGGAAATTGA 0.498000 56 45 0 0 1 0 0 SLC3A2 6520 broad.mit.edu 37 11 62648772 62648772 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr11:62648772C>T uc001nwd.3 + 3 838 c.580C>T c.(580-582)Ctc>Ttc p.L194F SLC3A2_uc001nwc.3_Missense_Mutation_p.L195F|SLC3A2_uc001nwf.3_Missense_Mutation_p.L132F|SLC3A2_uc001nwg.3_Missense_Mutation_p.L93F|SLC3A2_uc010rml.1_5'Flank NM_002394 NP_001013269 P08195 4F2_HUMAN Homo sapiens solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2 (SLC3A2), transcript variant 3, mRNA. 194 blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport apical plasma membrane|cell surface|integral to membrane|melanosome calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2) 22 GCTCGGCTGGCTCGGCATGCT 0.677000 OREG0021031 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 1 6 0 0 1 0 0 DNASE2B 58511 broad.mit.edu 37 1 84878172 84878172 + Nonsense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:84878172C>T uc001djt.1 + 4 721 c.688C>T c.(688-690)Cag>Tag p.Q230* DNASE2B_uc001dju.1_Nonsense_Mutation_p.Q22*|DNASE2B_uc009wch.1_Nonsense_Mutation_p.Q22* NM_021233 NP_067056 Q8WZ79 DNS2B_HUMAN Homo sapiens deoxyribonuclease II beta (DNASE2B), transcript variant 1, mRNA. 230 DNA metabolic process lysosome deoxyribonuclease II activity endometrium(1)|lung(4)|skin(1) 6 all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808) CACCACACTTCAGTCGGCCCA 0.502000 35 42 0 0 1 0 0 DCST2 127579 broad.mit.edu 37 1 155003021 155003022 + Missense_Mutation DNP GG AA AA TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:155003021_155003022GG>AA uc001fgm.3 - 5 985_986 c.905_906CC>TT c.(904-906)tcc>tTT p.S302F DCST2_uc009wpb.3_Non-coding_Transcript NM_144622 NP_653223 Q5T1A1 DCST2_HUMAN Homo sapiens DC-STAMP domain containing 2 (DCST2), mRNA. 302 integral to membrane breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1) 38 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) TGGCTACCTGGGACAGGCTCCG 0.594000 70 12 0 0 1 0 0 CLPTM1L 81037 broad.mit.edu 37 5 1339045 1339045 + Missense_Mutation SNP T A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr5:1339045T>A uc003jch.3 - 3 575 c.529A>T c.(529-531)Aac>Tac p.N177Y CLPTM1L_uc003jcg.3_Missense_Mutation_p.N44Y NM_030782 NP_110409 Q96KA5 CLP1L_HUMAN Homo sapiens CLPTM1-like (CLPTM1L), mRNA. 177 apoptosis integral to membrane p.N177N(1)|p.L176L(1) breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 24 Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09) Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181) KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208) GCCATCACGTTCAGCGCCAGC 0.612000 52 42 0 0 1 0 0 EMB 133418 broad.mit.edu 37 5 49706744 49706744 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr5:49706744C>T uc003jom.3 - 3 688 c.439G>A c.(439-441)Gaa>Aaa p.E147K EMB_uc003jol.3_Missense_Mutation_p.E78K|EMB_uc011cpy.2_Missense_Mutation_p.E97K NM_198449 NP_940851 Q6PCB8 EMB_HUMAN Homo sapiens embigin (EMB), mRNA. 147 Ig-like V-type 1. integral to membrane breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2) 15 Lung SC(58;0.218) Lung NSC(810;0.0795) TGTTCCTTTTCCTCTCGAAAG 0.308000 15 17 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 186106059 186106059 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:186106059C>T uc001grq.1 + 86 13801 c.13572C>T c.(13570-13572)gtC>gtT p.V4524V MIR548F1_uc021pgf.1_Intron|HMCN1_uc001grs.1_Silent_p.V93V NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN Homo sapiens hemicentin 1 (HMCN1), mRNA. 4524 Ig-like C2-type 44. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 GAGTGCCAGTCATAGTCCAGG 0.398000 137 77 0 0 1 0 0 FAM135B 51059 broad.mit.edu 37 8 139164684 139164684 + Silent SNP T C C TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr8:139164684T>C uc003yuy.3 - 12 2205 c.2034A>G c.(2032-2034)agA>agG p.R678R FAM135B_uc003yux.3_Silent_p.R579R|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Silent_p.R240R|FAM135B_uc003yvb.3_Silent_p.R240R NM_015912 NP_056996 Q49AJ0 F135B_HUMAN Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA. 678 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) TGGATGAAGATCTCTTGATGA 0.537000 HNSCC(54;0.14) 76 55 0 0 1 0 0 CHAF1A 10036 broad.mit.edu 37 19 4442295 4442295 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr19:4442295G>A uc002mal.3 + 13 2827 c.2727G>A c.(2725-2727)gaG>gaA p.E909E NM_005483 NP_005474 Q13111 CAF1A_HUMAN Homo sapiens chromatin assembly factor 1, subunit A (p150) (CHAF1A), mRNA. 909 Binds to p60.|Poly-Glu. DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|cell cycle|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent CAF-1 complex|WINAC complex chromatin binding|chromo shadow domain binding|unfolded protein binding breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 27 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18) aggaggaagaggaggaggGCG 0.602000 Chromatin Structure 11 9 0 0 1 0 0 KIAA1217 56243 broad.mit.edu 37 10 24813542 24813542 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr10:24813542C>T uc001iru.4 + 12 3150 c.2747C>T c.(2746-2748)tCc>tTc p.S916F KIAA1217_uc001irs.3_Missense_Mutation_p.S836F|KIAA1217_uc001irt.4_Missense_Mutation_p.S881F|KIAA1217_uc010qcy.2_Missense_Mutation_p.S881F|KIAA1217_uc010qcz.2_Missense_Mutation_p.S881F|KIAA1217_uc001irv.1_Missense_Mutation_p.S731F|KIAA1217_uc010qda.1_Intron|KIAA1217_uc001irw.3_Missense_Mutation_p.S599F|KIAA1217_uc001irz.3_Missense_Mutation_p.S599F|KIAA1217_uc001irx.3_Missense_Mutation_p.S599F|KIAA1217_uc001iry.3_Missense_Mutation_p.S599F NM_019590 NP_062536 Q5T5P2 SKT_HUMAN Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA. 916 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 GTGGCCAGCTCCCCAGCCGTC 0.632000 16 26 0 0 1 0 0 BRIP1 83990 broad.mit.edu 37 17 59926562 59926562 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr17:59926562G>A uc002izk.2 - 4 741 c.435C>T c.(433-435)tcC>tcT p.S145S NM_032043 NP_114432 Q9BX63 FANCJ_HUMAN Homo sapiens BRCA1 interacting protein C-terminal helicase 1 (BRIP1), mRNA. 145 Helicase ATP-binding. DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding p.A144T(1) NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 55 CTCTGTATATGGATGCCTGTT 0.333000 """F, N, Mis""" """AML, leukemia, breast""" Involved in tolerance or repair of DNA crosslinks 52 19 0 0 1 0 0 ACTR3C 653857 broad.mit.edu 37 7 149986663 149986664 + Missense_Mutation DNP CC TT TT TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr7:149986663_149986664CC>TT uc003wgu.2 - 3 362_363 c.172_173GG>AA c.(172-174)gga>AAa p.G58K ACTR3C_uc022aps.1_Missense_Mutation_p.G58K NM_001164459 NP_001157931 Q9C0K3 ARP3C_HUMAN Homo sapiens ARP3 actin-related protein 3 homolog C (yeast) (ACTR3C), transcript variant 2, mRNA. 58 regulation of actin filament polymerization cytoskeleton ATP binding|actin binding GATGCAGCTTCCAATTACATAA 0.500000 22 3 0 0 1 0 0 HHAT 55733 broad.mit.edu 37 1 210577891 210577891 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:210577891C>T uc010psr.2 + 4 660 c.555C>T c.(553-555)agC>agT p.S185S HHAT_uc009xcx.3_Silent_p.S184S|HHAT_uc010psq.2_Intron|HHAT_uc009xcy.3_Silent_p.S119S|HHAT_uc010pss.2_Silent_p.S139S|HHAT_uc010pst.2_Silent_p.S121S|HHAT_uc001hhz.4_Silent_p.S184S|HHAT_uc021pip.1_Silent_p.S184S|HHAT_uc010psu.2_Silent_p.S119S NM_001170587 NP_001164058 Q5VTY9 HHAT_HUMAN Homo sapiens hedgehog acyltransferase (HHAT), transcript variant 5, mRNA. 184 multicellular organismal development endoplasmic reticulum membrane|integral to membrane GTP binding breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215) CCAGCTTCAGCCTGGAGCTCT 0.512000 44 55 0 0 1 0 0 COL22A1 169044 broad.mit.edu 37 8 139703083 139703083 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr8:139703083C>T uc003yvd.3 - 35 3236 c.2789G>A c.(2788-2790)aGt>aAt p.S930N COL22A1_uc011ljo.2_Missense_Mutation_p.S230N NM_152888 NP_690848 Q8NFW1 COMA1_HUMAN Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA. 930 Collagen-like 8.|Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) TGGAGGGCCACTGGGACCGGG 0.562000 HNSCC(7;0.00092) 14 7 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13769236 13769236 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr5:13769236C>T uc003jfd.2 - 57 9772 c.9730G>A c.(9730-9732)Gaa>Aaa p.E3244K DNAH5_uc003jfc.2_5'UTR NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 3244 Stalk (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) ATTGTCACTTCTTTTAAGACC 0.403000 Kartagener syndrome 198 38 0 0 1 0 0 NR4A2 4929 broad.mit.edu 37 2 157185862 157185863 + Missense_Mutation DNP GG AA AA TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr2:157185862_157185863GG>AA uc002tyz.4 - 2 1258_1259 c.836_837CC>TT c.(835-837)acc>aTT p.T279I NR4A2_uc021vri.1_Missense_Mutation_p.T279I|NR4A2_uc002tyx.4_Missense_Mutation_p.T216I|NR4A2_uc010zcf.2_Missense_Mutation_p.T279I|NR4A2_uc010zcg.1_5'Flank NM_006186 NP_006177 P43354 NR4A2_HUMAN Homo sapiens nuclear receptor subfamily 4, group A, member 2 (NR4A2), mRNA. 279 cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus nucleoplasm sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding p.R278H(1) breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1) 40 AGCCCTCACAGGTGCGCACGCC 0.678000 17 5 0 0 1 0 0 OCIAD2 132299 broad.mit.edu 37 4 48906531 48906531 + Silent SNP T C C TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr4:48906531T>C uc003gyt.3 - 1 239 c.36A>G c.(34-36)aaA>aaG p.K12K OCIAD2_uc003gyu.3_Silent_p.K12K NM_001014446 NP_001014446 Q56VL3 OCAD2_HUMAN Homo sapiens OCIA domain containing 2 (OCIAD2), transcript variant 1, mRNA. 12 OCIA. endosome kidney(1)|lung(3)|skin(1)|urinary_tract(1) 6 AATGGGCATCTTTATCTTGGT 0.443000 65 52 0 0 1 0 0 DISP2 85455 broad.mit.edu 37 15 40662017 40662017 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr15:40662017C>T uc001zlk.1 + 7 3793 c.3704C>T c.(3703-3705)tCc>tTc p.S1235F NM_033510 NP_277045 A7MBM2 DISP2_HUMAN Homo sapiens dispatched homolog 2 (Drosophila) (DISP2), mRNA. 1235 smoothened signaling pathway integral to membrane breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4) 30 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247) CAGACCTCCTCCCCCTATAAG 0.701000 39 13 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9072844 9072844 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr19:9072844C>T uc002mkp.3 - 2 14806 c.14602G>A c.(14602-14604)Gaa>Aaa p.E4868K NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 4870 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GTGGTGTCTTCCATGGTGGAG 0.463000 98 79 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 138169263 138169263 + Missense_Mutation SNP T C C TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr2:138169263T>C uc002tva.1 + 12 2687 c.2687T>C c.(2686-2688)aTa>aCa p.I896T THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Missense_Mutation_p.I786T NM_001080427 NP_001073896 Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA. NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) GATGAATTTATATCCCAACCT 0.463000 49 55 0 0 1 0 0 IKBKB 3551 broad.mit.edu 37 8 42175252 42175252 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr8:42175252C>T uc003xow.2 + 11 1389 c.1203C>T c.(1201-1203)atC>atT p.I401I IKBKB_uc010lxh.2_Silent_p.I296I|IKBKB_uc011lco.2_Non-coding_Transcript|IKBKB_uc003xox.2_Silent_p.I122I|IKBKB_uc010lxj.2_Silent_p.I178I|IKBKB_uc011lcp.2_Non-coding_Transcript|IKBKB_uc011lcq.2_Silent_p.I399I|IKBKB_uc010lxi.2_Non-coding_Transcript|IKBKB_uc011lcr.2_Silent_p.I342I NM_001556 NP_001547 O14920 IKKB_HUMAN Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta (IKBKB), transcript variant 1, mRNA. 401 MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|T cell receptor signaling pathway|Toll signaling pathway|anti-apoptosis|innate immune response|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft ATP binding|IkappaB kinase activity|identical protein binding breast(4)|lung(1)|ovary(2)|skin(1) 8 all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211) all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264) Arsenic trioxide(DB01169)|Auranofin(DB00995) AGACTCAGATCTCCCCACGGC 0.408000 39 17 0 0 1 0 0 ADAM32 203102 broad.mit.edu 37 8 39141113 39141113 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr8:39141113C>T uc003xmt.4 + 23 2572 c.2327C>T c.(2326-2328)tCa>tTa p.S776L ADAM32_uc011lch.2_Missense_Mutation_p.S677L|ADAM32_uc003xmu.4_Missense_Mutation_p.S618L|ADAM32_uc003xmv.3_Missense_Mutation_p.S148L NM_145004 NP_659441 Q8TC27 ADA32_HUMAN Homo sapiens ADAM metallopeptidase domain 32 (ADAM32), mRNA. 776 proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2) 31 all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503) LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146) AGATCCAAATCACAGGACAGT 0.284000 20 8 0 0 1 0 0 DHRS13 147015 broad.mit.edu 37 17 27225737 27225737 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr17:27225737G>A uc002hde.4 - 4 983 c.856C>T c.(856-858)Cat>Tat p.H286Y FLOT2_uc002hdc.3_5'Flank|DHRS13_uc002hdd.4_Missense_Mutation_p.H236Y|DHRS13_uc010wba.2_Missense_Mutation_p.H205Y|AX795351_uc002hdf.3_Non-coding_Transcript NM_144683 NP_653284 Q6UX07 DHR13_HUMAN Homo sapiens dehydrogenase/reductase (SDR family) member 13 (DHRS13), mRNA. 286 extracellular region binding|oxidoreductase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 9 all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01) Epithelial(11;1.59e-06)|all cancers(11;9.27e-06)|BRCA - Breast invasive adenocarcinoma(11;5.78e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.0602) TCTTCCACATGGCAGTTGGCA 0.642000 37 12 0 0 1 0 0 ADNP2 22850 broad.mit.edu 37 18 77896636 77896636 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr18:77896636G>A uc002lnw.3 + 3 3795 c.3340G>A c.(3340-3342)Gat>Aat p.D1114N NM_014913 NP_055728 Q6IQ32 ADNP2_HUMAN Homo sapiens ADNP homeobox 2 (ADNP2), mRNA. 1114 cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2) 42 all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2) Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164) TTTAGGCTTTGATATGTCTGA 0.294000 18 7 0 0 1 0 0 ZBTB9 221504 broad.mit.edu 37 6 33423431 33423431 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr6:33423431C>T uc003oeq.3 + 1 822 c.554C>T c.(553-555)tCt>tTt p.S185F ZBTB9_uc021ywp.1_Missense_Mutation_p.S185F NM_152735 NP_689948 Q96C00 ZBTB9_HUMAN Homo sapiens zinc finger and BTB domain containing 9 (ZBTB9), mRNA. 185 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2) 11 TCCTCTGCTTCTACTGAAAGC 0.547000 78 129 0 0 1 0 0 ATG7 10533 broad.mit.edu 37 3 11400057 11400057 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr3:11400057C>T uc003bwc.3 + 12 1567 c.1450C>T c.(1450-1452)Cct>Tct p.P484S ATG7_uc003bwd.3_Missense_Mutation_p.P484S|ATG7_uc011aum.2_Missense_Mutation_p.P445S NM_006395 NP_006386 O95352 ATG7_HUMAN Homo sapiens ATG7 autophagy related 7 homolog (S. cerevisiae) (ATG7), transcript variant 1, mRNA. 484 autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport cytoplasm APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1) 34 CCGGTGGCTTCCTGCCGTCAT 0.522000 33 18 0 0 1 0 0 ZNF710 374655 broad.mit.edu 37 15 90610492 90610492 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr15:90610492G>A uc002bov.2 + 1 246 c.123G>A c.(121-123)gaG>gaA p.E41E NM_198526 NP_940928 Q8N1W2 ZN710_HUMAN Homo sapiens zinc finger protein 710 (ZNF710), mRNA. 41 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.E41K(1) breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3) 19 Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04) BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129) TAAGCGCCGAGGCCTTCTACC 0.667000 20 8 0 0 1 0 0 TTC21A 199223 broad.mit.edu 37 3 39172318 39172318 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr3:39172318G>A uc003cjc.2 + 17 2644 c.2467G>A c.(2467-2469)Gaa>Aaa p.E823K TTC21A_uc011ayx.1_Missense_Mutation_p.E775K|TTC21A_uc003cjd.2_Non-coding_Transcript|TTC21A_uc011ayy.2_5'Flank|TTC21A_uc003cjf.2_5'Flank NM_145755 NP_665698 Q8NDW8 TT21A_HUMAN Homo sapiens tetratricopeptide repeat domain 21A (TTC21A), transcript variant 2, mRNA. 823 binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3) 50 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) GCAGGCACTGGAACATGACAT 0.468000 20 18 0 0 1 0 0 CPA6 57094 broad.mit.edu 37 8 68423854 68423854 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr8:68423854C>T uc003xxq.4 - 3 610 c.354G>A c.(352-354)aaG>aaA p.K118K CPA6_uc003xxr.4_5'UTR|CPA6_uc003xxs.2_Silent_p.K118K NM_020361 NP_065094 Q8N4T0 CBPA6_HUMAN Homo sapiens carboxypeptidase A6 (CPA6), mRNA. 118 proteolysis proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5) 26 Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136) AGCTGCTTCCCTTCTCCAGTG 0.383000 121 73 0 0 1 0 0 TBPL2 387332 broad.mit.edu 37 14 55890921 55890921 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr14:55890921C>T uc001xby.3 - 5 1007 c.1007G>A c.(1006-1008)cGa>cAa p.R336Q FBXO34_uc001xbv.3_Non-coding_Transcript NM_199047 NP_950248 Q6SJ96 TBPL2_HUMAN Homo sapiens TATA box binding protein like 2 (TBPL2), mRNA. 336 multicellular organismal development|transcription initiation from RNA polymerase II promoter cytoplasm|nucleus DNA binding endometrium(2)|kidney(1)|large_intestine(1)|lung(4) 8 CAACACAATTCGTGGTTTTAC 0.333000 65 14 0 0 1 0 0 TSIX 9383 broad.mit.edu 37 X 73046394 73046394 + RNA SNP G T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chrX:73046394G>T uc004ebn.2 + 0 c.34355G>T XIST_uc004ebm.1_Non-coding_Transcript Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA. CATCTCAAAAGAATCAGGCTT 0.373000 14 87 2.43516e-34 2.5146e-34 1 1 0 HSPA4 3308 broad.mit.edu 37 5 132435264 132435264 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr5:132435264G>A uc003kyj.3 + 15 2238 c.1957G>A c.(1957-1959)Gaa>Aaa p.E653K NM_002154 NP_002145 P34932 HSP74_HUMAN Homo sapiens heat shock 70kDa protein 4 (HSPA4), mRNA. 653 cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein cytoplasm|nucleus ATP binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1) 32 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TTTGAAACTGGAAGATACTGA 0.333000 31 9 0 0 1 0 0 FREM1 158326 broad.mit.edu 37 9 14859445 14859445 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr9:14859445G>A uc003zlm.3 - 4 1183 c.367C>T c.(367-369)Ctg>Ttg p.L123L FREM1_uc010mic.3_Non-coding_Transcript NM_144966 NP_659403 Q5H8C1 FREM1_HUMAN Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA. 123 cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 GBM - Glioblastoma multiforme(50;3.53e-06) TAGACCCACAGGATAAAAGTT 0.408000 64 38 0 0 1 0 0 VIPR2 7434 broad.mit.edu 37 7 158851213 158851213 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr7:158851213C>T uc003woh.3 - 4 600 c.414G>A c.(412-414)ctG>ctA p.L138L VIPR2_uc010lqx.3_Non-coding_Transcript|VIPR2_uc010lqy.3_Non-coding_Transcript NM_003382 NP_003373 P41587 VIPR2_HUMAN Homo sapiens vasoactive intestinal peptide receptor 2 (VIPR2), mRNA. 138 cell-cell signaling integral to plasma membrane central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1) 22 Ovarian(565;0.152) all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603) OV - Ovarian serous cystadenocarcinoma(82;0.00231) UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18) CAAGAGACATCAGAGAGACAC 0.398000 95 58 0 0 1 0 0 LOC645166 645166 broad.mit.edu 37 1 148933291 148933291 + Splice_Site SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:148933291G>A uc010pbc.1 + 3 c.236_splice c.e3-1 LOC645166_uc010pbd.1_Intron|LOC645166_uc009wkw.1_Splice_Site Homo sapiens lymphocyte-specific protein 1 pseudogene (LOC645166), transcript variant 2, non-coding RNA. CTGCCCGCAGGATATTGTGGC 0.557000 8 11 0 0 1 0 0 MXI1 4601 broad.mit.edu 37 10 112044685 112044685 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr10:112044685G>A uc001kyy.3 + 5 1032 c.828G>A c.(826-828)ccG>ccA p.P276P MXI1_uc001kyz.3_Silent_p.P163P|MXI1_uc001kza.3_Silent_p.P209P|MXI1_uc010qrc.2_Silent_p.P199P|MXI1_uc009xxv.3_Non-coding_Transcript NM_130439 NP_569157 P50539 MXI1_HUMAN Homo sapiens MAX interactor 1 (MXI1), transcript variant 2, mRNA. 209 cytoplasmic sequestering of transcription factor|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription corepressor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(1) 10 Breast(234;0.052)|Lung NSC(174;0.223) Epithelial(162;1.33e-05)|all cancers(201;0.000277)|BRCA - Breast invasive adenocarcinoma(275;0.127) GCAGCCTGCCGAGTATTGGGA 0.458000 18 30 0 0 1 0 0 PPEF1 5475 broad.mit.edu 37 X 18845509 18845509 + Silent SNP A G G TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chrX:18845509A>G uc004cyq.3 + 18 2347 c.1866A>G c.(1864-1866)aaA>aaG p.K622K PPEF1_uc004cyp.3_Silent_p.K594K|PPEF1_uc004cyr.3_Silent_p.K560K|PPEF1_uc004cys.3_Silent_p.K622K|PPEF1_uc011mja.2_Silent_p.K557K|PPEF1_uc011mjb.2_Silent_p.K566K NM_006240 NP_006231 O14829 PPE1_HUMAN Homo sapiens protein phosphatase, EF-hand calcium binding domain 1 (PPEF1), transcript variant 1, mRNA. 622 EF-hand 3. detection of stimulus involved in sensory perception|protein dephosphorylation calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 43 Hepatocellular(33;0.183) ACTTGAACAAAGATGGAAGCA 0.363000 5 65 0 0 1 0 0 ATXN2 6311 broad.mit.edu 37 12 111924602 111924603 + Missense_Mutation DNP GG AA AA TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr12:111924602_111924603GG>AA uc001tsj.3 - 15 2908_2909 c.2746_2747CC>TT c.(2746-2748)ccc>TTc p.P916F ATXN2_uc001tsh.3_Missense_Mutation_p.P651F|ATXN2_uc001tsi.3_Missense_Mutation_p.P627F|ATXN2_uc001tsk.3_Non-coding_Transcript NM_002973 NP_002964 Q99700 ATX2_HUMAN Homo sapiens ataxin 2 (ATXN2), mRNA. 916 RNA metabolic process|RNA transport|cell death|cytoplasmic mRNA processing body assembly|regulation of translation|stress granule assembly nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network RNA binding|protein C-terminus binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 37 CTTTGCATTGGGATTCAATGTT 0.337000 27 13 0 0 1 0 0 FAM3A 60343 broad.mit.edu 37 X 153736902 153736902 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chrX:153736902C>T uc004flt.2 - 4 746 c.220G>A c.(220-222)Ggc>Agc p.G74S FAM3A_uc011mzp.2_Missense_Mutation_p.G60S|FAM3A_uc022cih.1_Missense_Mutation_p.G22S|FAM3A_uc004flw.2_Missense_Mutation_p.G60S|FAM3A_uc004fls.2_Missense_Mutation_p.G60S NM_001171133 NP_001164604 P98173 FAM3A_HUMAN Homo sapiens family with sequence similarity 3, member A (FAM3A), transcript variant 3, mRNA. 60 extracellular region kidney(2)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1) 5 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TGGGGCAGGCCACACTTGTAC 0.642000 3 18 0 0 1 0 0 MID1 4281 broad.mit.edu 37 X 10417593 10417593 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chrX:10417593G>A uc004cte.4 - 9 2009 c.1819C>T c.(1819-1821)Ctg>Ttg p.L607L MID1_uc004ctd.4_Silent_p.L318L|MID1_uc004ctg.4_Silent_p.L607L|MID1_uc004cth.4_Silent_p.L569L|MID1_uc004ctk.4_Silent_p.L607L|MID1_uc004ctj.4_Silent_p.L607L|MID1_uc004cti.4_Silent_p.L607L|MID1_uc004csz.4_Silent_p.L279L|MID1_uc004cta.4_Silent_p.L363L|MID1_uc004ctb.4_Silent_p.L267L|MID1_uc004ctc.4_Silent_p.L374L NM_001193277 NP_150632 O15344 TRI18_HUMAN Homo sapiens midline 1 (Opitz/BBB syndrome) (MID1), transcript variant 2, mRNA. 607 B30.2/SPRY. microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade cytoplasm|microtubule|microtubule associated complex|spindle ligase activity|ubiquitin protein ligase binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 26 TAGTCCAGCAGGATGCCCACG 0.562000 10 108 0 0 1 0 0 NMRAL1 57407 broad.mit.edu 37 16 4519332 4519333 + Nonsense_Mutation DNP GG AT AT TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr16:4519332_4519333GG>AT uc002cwm.3 - 2 330_331 c.174_175CC>AT c.(172-177)gaccaa>gaATaa p.58_59DQ>E* NMRAL1_uc002cwn.3_Nonsense_Mutation_p.58_59DQ>E*|NMRAL1_uc002cwo.3_Nonsense_Mutation_p.58_59DQ>E* NM_020677 NP_065728 Q9HBL8 NMRL1_HUMAN Homo sapiens NmrA-like family domain containing 1 (NMRAL1), mRNA. 58 nucleus|perinuclear region of cytoplasm binding breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|prostate(2)|stomach(1) 15 TGGTCATCTTGGTCTCCCTGCA 0.554000 140 34 0 0 1 0 0 DYNC1LI2 1783 broad.mit.edu 37 16 66770010 66770010 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr16:66770010G>A uc002eqb.1 - 4 698 c.667C>T c.(667-669)Ctg>Ttg p.L223L DYNC1LI2_uc010vis.1_Silent_p.L146L|DYNC1LI2_uc010vit.2_Silent_p.L223L|DYNC1LI2_uc010viu.2_Silent_p.L184L NM_006141 NP_006132 O43237 DC1L2_HUMAN Homo sapiens dynein, cytoplasmic 1, light intermediate chain 2 (DYNC1LI2), mRNA. 223 transport centrosome|cytoplasmic dynein complex|microtubule ATP binding|motor activity central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1) 15 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212) GGGATCCCCAGGTTATGAGTC 0.552000 32 30 0 0 1 0 0 TRUB1 142940 broad.mit.edu 37 10 116698068 116698068 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr10:116698068C>T uc001lcd.3 + 0 117 c.56C>T c.(55-57)tCc>tTc p.S19F TRUB1_uc010qsl.2_Intron NM_139169 NP_631908 Q8WWH5 TRUB1_HUMAN Homo sapiens TruB pseudouridine (psi) synthase homolog 1 (E. coli) (TRUB1), mRNA. 19 pseudouridine synthesis|tRNA processing RNA binding|pseudouridine synthase activity breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2) 12 Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245) Epithelial(162;0.00879)|all cancers(201;0.0243) ACAGACACATCCCCTGTCCTT 0.617000 13 26 0 0 1 0 0 IRF6 3664 broad.mit.edu 37 1 209969723 209969723 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:209969723G>A uc001hhq.2 - 3 653 c.349C>T c.(349-351)Cct>Tct p.P117S IRF6_uc010psm.2_Missense_Mutation_p.P22S NM_006147 NP_001193625 O14896 IRF6_HUMAN Homo sapiens interferon regulatory factor 6 (IRF6), transcript variant 1, mRNA. 117 cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway cytoplasm|nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4) 28 OV - Ovarian serous cystadenocarcinoma(81;0.0351) TGGGGCTGAGGGATGTCACAC 0.532000 HNSCC(57;0.16) 57 19 0 0 1 0 0 COMP 1311 broad.mit.edu 37 19 18895154 18895154 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr19:18895154C>T uc002nke.3 - 16 1970 c.1934G>A c.(1933-1935)gGc>gAc p.G645D COMP_uc002nkd.3_Missense_Mutation_p.G612D|COMP_uc010xqj.2_Missense_Mutation_p.G592D NM_000095 NP_000086 P49747 COMP_HUMAN Homo sapiens cartilage oligomeric matrix protein (COMP), mRNA. 645 Mediates cell survival and induction of the IAP family of survival proteins.|TSP C-terminal. anti-apoptosis|apoptosis|cell adhesion|limb development extracellular space|proteinaceous extracellular matrix calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 TTCCCCGGGGCCTGTGGAAGA 0.622000 48 29 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13737583 13737583 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr5:13737583G>A uc003jfd.2 - 65 11275 c.11233C>T c.(11233-11235)Cat>Tat p.H3745Y DNAH5_uc003jfc.2_Intron NM_001369 NP_001360 Q8TE73 DYH5_HUMAN Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA. 3745 AAA 5 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TCCATCAGATGAGTTCTTTCT 0.373000 Kartagener syndrome 37 21 0 0 1 0 0 EMB 133418 broad.mit.edu 37 5 49699234 49699234 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr5:49699234C>T uc003jom.3 - 5 904 c.655G>A c.(655-657)Gaa>Aaa p.E219K EMB_uc010ivq.3_Missense_Mutation_p.E13K|EMB_uc003jol.3_Missense_Mutation_p.E150K|EMB_uc011cpy.2_Missense_Mutation_p.E169K NM_198449 NP_940851 Q6PCB8 EMB_HUMAN Homo sapiens embigin (EMB), mRNA. 219 Ig-like V-type 2. integral to membrane p.E219K(2) breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2) 15 Lung SC(58;0.218) Lung NSC(810;0.0795) AGCTTTGTTTCGTTAGCATAT 0.378000 48 26 0 0 1 0 0 ROR1 4919 broad.mit.edu 37 1 64608152 64608152 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:64608152G>A uc001dbj.2 + 6 1392 c.993G>A c.(991-993)ggG>ggA p.G331G ROR1_uc001dbi.4_Silent_p.G331G|AK096291_uc001dbl.3_Intron NM_005012 NP_005003 Q01973 ROR1_HUMAN Homo sapiens receptor tyrosine kinase-like orphan receptor 1 (ROR1), transcript variant 1, mRNA. 331 Kringle. transmembrane receptor protein tyrosine kinase signaling pathway cytoplasm|integral to plasma membrane ATP binding|Wnt-protein binding|transmembrane receptor protein tyrosine kinase activity breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 51 CCAAATCAGGGCGCCAGTGCC 0.512000 57 24 0 0 1 0 0 U2SURP 23350 broad.mit.edu 37 3 142772593 142772593 + Missense_Mutation SNP G T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr3:142772593G>T uc003evh.1 + 25 2830 c.2731G>T c.(2731-2733)Gac>Tac p.D911Y U2SURP_uc003evi.1_Missense_Mutation_p.D502Y|U2SURP_uc003evj.1_Non-coding_Transcript|U2SURP_uc003evk.1_Missense_Mutation_p.D910Y|U2SURP_uc003evl.1_Missense_Mutation_p.D478Y NM_001080415 NP_001073884 O15042 SR140_HUMAN Homo sapiens U2 snRNP-associated SURP domain containing (U2SURP), mRNA. 911 Glu-rich. RNA processing nucleus RNA binding|nucleotide binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 31 TCGCTCCAAAGACAAGAAGGA 0.323000 12 5 0.0215528 0.0215528 1 1 0 POLE 5426 broad.mit.edu 37 12 133241935 133241935 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr12:133241935G>A uc001uks.1 - 20 2465 c.2421C>T c.(2419-2421)gcC>gcT p.A807A POLE_uc010tbq.1_Non-coding_Transcript|POLE_uc009zyu.1_Silent_p.A780A NM_006231 NP_006222 Q07864 DPOE1_HUMAN Homo sapiens polymerase (DNA directed), epsilon (POLE), mRNA. 807 DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm DNA binding|DNA-directed DNA polymerase activity|chromatin binding|nucleotide binding|protein binding|zinc ion binding NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 89 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) TGCACTTGTGGGCCAGCTGCA 0.607000 DNA polymerases (catalytic subunits) 91 78 0 0 1 0 0 BAZ2B 29994 broad.mit.edu 37 2 160176811 160176811 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr2:160176811C>T uc002uao.3 - 36 6877 c.6472G>A c.(6472-6474)Gaa>Aaa p.E2158K BAZ2B_uc002uap.3_Missense_Mutation_p.E2122K|BAZ2B_uc021vrs.1_Non-coding_Transcript NM_013450 NP_038478 Q9UIF8 BAZ2B_HUMAN Homo sapiens bromodomain adjacent to zinc finger domain, 2B (BAZ2B), mRNA. 2158 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1) 82 CACTTTTTTTCAAAATACTTC 0.343000 12 16 0 0 1 0 0 TP73 7161 broad.mit.edu 37 1 3649484 3649485 + Missense_Mutation DNP GG AA AA TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:3649484_3649485GG>AA uc001akp.3 + 13 1862_1863 c.1752_1753GG>AA c.(1750-1755)gaggcc>gaAAcc p.A585T TP73_uc021ofb.1_3'UTR|TP73_uc021ofc.1_3'UTR|TP73_uc021ofd.1_3'UTR|TP73_uc021ofe.1_Missense_Mutation_p.A489T|TP73_uc021off.1_Missense_Mutation_p.A504T|TP73_uc021ofg.1_Missense_Mutation_p.A440T|TP73_uc021ofh.1_Missense_Mutation_p.A455T|TP73_uc021ofi.1_3'UTR|TP73_uc001akr.3_Missense_Mutation_p.A536T|TP73_uc009vlk.2_3'UTR|TP73_uc001aks.3_3'UTR|TP73_uc010nzk.2_Missense_Mutation_p.A514T|TP73_uc010nzl.2_Missense_Mutation_p.A134T NM_005427 NP_001191121 O15350 P73_HUMAN Homo sapiens tumor protein p73 (TP73), transcript variant 1, mRNA. 585 DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|cellular response to UV|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to X-ray|response to gamma radiation chromatin|cytosol|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1) 20 all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198) all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127) Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226) GGGTCATGGAGGCCGTGCACTT 0.708000 21 12 0 0 1 0 0 PDCD7 10081 broad.mit.edu 37 15 65411746 65411747 + Missense_Mutation DNP GG AA AA TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr15:65411746_65411747GG>AA uc002aol.3 - 3 1356_1357 c.1301_1302CC>TT c.(1300-1302)gcc>gTT p.A434V NM_005707 NP_005698 Q8N8D1 PDCD7_HUMAN Homo sapiens programmed cell death 7 (PDCD7), mRNA. 434 apoptosis|induction of apoptosis|response to glucocorticoid stimulus U12-type spliceosomal complex endometrium(4)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1) 7 GGGAGTGCTCGGCTTGGAGATA 0.495000 16 10 0 0 1 0 0 CXXC5 51523 broad.mit.edu 37 5 139060575 139060575 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr5:139060575C>T uc010jfg.1 + 1 757 c.467C>T c.(466-468)gCc>gTc p.A156V CXXC5_uc003let.2_Missense_Mutation_p.A156V NM_016463 NP_057547 Q7LFL8 CXXC5_HUMAN Homo sapiens CXXC finger protein 5 (CXXC5), mRNA. 156 positive regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm|nucleus DNA binding|signal transducer activity|zinc ion binding central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1) 12 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAGCTGGCAGCCGAGGGACAG 0.642000 85 71 0 0 1 0 0 MTNR1A 4543 broad.mit.edu 37 4 187455385 187455385 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr4:187455385C>T uc003izd.1 - 1 529 c.511G>A c.(511-513)Gac>Aac p.D171N NM_005958 NP_005949 P48039 MTR1A_HUMAN Homo sapiens melatonin receptor 1A (MTNR1A), mRNA. 171 G-protein signaling, coupled to cyclic nucleotide second messenger|circadian rhythm|mating behavior integral to plasma membrane melatonin receptor activity p.Y170Y(1) breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 14 all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202) OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159) Melatonin(DB01065)|Ramelteon(DB00980) ATCCTCGGGTCGTACTGGAGA 0.597000 80 61 0 0 1 0 0 SPRYD3 84926 broad.mit.edu 37 12 53468952 53468952 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr12:53468952G>A uc001sbt.2 - 3 385 c.298C>T c.(298-300)Cct>Tct p.P100S SPRYD3_uc010snw.2_5'UTR NM_032840 NP_116229 Q8NCJ5 SPRY3_HUMAN Homo sapiens SPRY domain containing 3 (SPRYD3), mRNA. 100 B30.2/SPRY. central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 TAGTACTGAGGGACCAGCCCC 0.582000 99 61 0 0 1 0 0 PUS7 54517 broad.mit.edu 37 7 105112607 105112607 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr7:105112607C>T uc010lji.3 - 9 1235 c.1227G>A c.(1225-1227)atG>atA p.M409I PUS7_uc003vcx.3_Missense_Mutation_p.M403I|PUS7_uc003vcy.3_Missense_Mutation_p.M403I|PUS7_uc003vcz.1_Missense_Mutation_p.M403I NM_019042 NP_061915 Q96PZ0 PUS7_HUMAN Homo sapiens pseudouridylate synthase 7 homolog (S. cerevisiae) (PUS7), mRNA. 403 TRUD. pseudouridine synthesis|tRNA processing RNA binding|pseudouridine synthase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1) 23 ATATTAAATCCATGACTTCTG 0.274000 13 5 0 0 1 0 0 SELP 6403 broad.mit.edu 37 1 169582290 169582290 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:169582290C>T uc001ggi.4 - 4 717 c.652G>A c.(652-654)Gga>Aga p.G218R SELP_uc001ggh.3_Missense_Mutation_p.G53R|SELP_uc009wvr.3_Missense_Mutation_p.G218R NM_003005 NP_002996 P16109 LYAM3_HUMAN Homo sapiens selectin P (granule membrane protein 140kDa, antigen CD62) (SELP), mRNA. 218 Sushi 1. platelet activation|platelet degranulation|positive regulation of platelet activation external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding p.L217M(1) breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(923;0.208) Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775) GAGAAGTTTCCCAGAGGGTGG 0.488000 93 15 0 0 1 0 0 ATP9B 374868 broad.mit.edu 37 18 77119463 77119463 + Splice_Site SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr18:77119463G>A uc002lmx.3 + 26 3026 c.3012_splice c.e26+1 p.K1004_splice ATP9B_uc002lmw.1_Splice_Site_p.K1004_splice|ATP9B_uc002lmz.1_Missense_Mutation_p.V699I|ATP9B_uc002lna.3_Splice_Site_p.K30_splice|ATP9B_uc002lnb.1_Splice_Site_p.G103_splice|ATP9B_uc010drb.3_Splice_Site NM_198531 NP_940933 O43861 ATP9B_HUMAN Homo sapiens ATPase, class II, type 9B (ATP9B), mRNA. 1004 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity p.?(1) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1) 38 Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171) OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405) CCTCACCAAGGTACGGGCCTC 0.537000 13 8 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37026573 37026573 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chrX:37026573C>T uc004ddl.2 + 0 142 c.90C>T c.(88-90)ttC>ttT p.F30F NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA. 30 p.F30F(5) breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 CCAAGTACTTCGCGAAGCGCA 0.642000 40 14 0 0 1 0 0 SRSF11 9295 broad.mit.edu 37 1 70703161 70703161 + Missense_Mutation SNP C A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:70703161C>A uc001des.3 + 6 768 c.644C>A c.(643-645)tCt>tAt p.S215Y SRSF11_uc001det.3_Missense_Mutation_p.S215Y|SRSF11_uc001deu.2_Missense_Mutation_p.S215Y|SRSF11_uc001dev.3_Missense_Mutation_p.S25Y|SRSF11_uc001dew.3_Missense_Mutation_p.S155Y NM_004768 NP_004759 Q05519 SRS11_HUMAN Homo sapiens serine/arginine-rich splicing factor 11 (SRSF11), transcript variant 1, mRNA. 215 mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription nucleoplasm RNA binding|nucleotide binding|protein binding large_intestine(3)|ovary(2)|skin(1) 6 TCGGATACCTCTAGTAAAGAA 0.373000 23 34 1.42033e-22 1.46071e-22 1 1 0 MUC5B 727897 broad.mit.edu 37 11 1275419 1275419 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr11:1275419C>T uc001lta.3 + 33 15374 c.15315C>T c.(15313-15315)atC>atT p.I5105I NM_002458 NP_002449 Q9HC84 MUC5B_HUMAN Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA. 5105 VWFD 4. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) TGAGAGAGATCCATGCACGCT 0.622000 34 21 0 0 1 0 0 REST 5978 broad.mit.edu 37 4 57797183 57797183 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr4:57797183C>T uc003hch.3 + 3 2506 c.2159C>T c.(2158-2160)cCc>cTc p.P720L REST_uc003hci.3_Missense_Mutation_p.P720L|REST_uc010ihf.3_Missense_Mutation_p.P394L NM_005612 NP_005603 Q13127 REST_HUMAN Homo sapiens RE1-silencing transcription factor (REST), transcript variant 1, mRNA. 720 Pro-rich. cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent cytoplasm|transcriptional repressor complex RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|zinc ion binding central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 50 Glioma(25;0.08)|all_neural(26;0.181) GAATCTGCTCCCATGCAGGTG 0.587000 225 173 0 0 1 0 0 SYT1 6857 broad.mit.edu 37 12 79679643 79679643 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr12:79679643G>A uc001sys.3 + 5 914 c.243G>A c.(241-243)aaG>aaA p.K81K SYT1_uc001syt.3_Silent_p.K81K|SYT1_uc001syu.3_Silent_p.K81K|SYT1_uc001syv.3_Silent_p.K81K NM_001135805 NP_005630 P21579 SYT1_HUMAN Homo sapiens synaptotagmin I (SYT1), transcript variant 2, mRNA. 81 detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane 1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6) 25 GTATCTGTAAGAAATGTTTGT 0.408000 39 36 0 0 1 0 0 HEATR1 55127 broad.mit.edu 37 1 236730160 236730160 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:236730160G>A uc001hyd.2 - 29 4246 c.4094C>T c.(4093-4095)tCt>tTt p.S1365F HEATR1_uc009xgh.2_Missense_Mutation_p.S527F NM_018072 NP_060542 Q9H583 HEAT1_HUMAN Homo sapiens HEAT repeat containing 1 (HEATR1), mRNA. 1365 rRNA processing nucleolus|ribonucleoprotein complex protein binding NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 87 Ovarian(103;0.0634)|Breast(184;0.133) all_cancers(173;0.0255)|Prostate(94;0.175) OV - Ovarian serous cystadenocarcinoma(106;0.00117) AACTTCTATAGAATCTCCACT 0.433000 43 26 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 186158758 186158758 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:186158758C>T uc001grq.1 + 106 16885 c.16656C>T c.(16654-16656)atC>atT p.I5552I MIR548F1_uc021pgf.1_Intron|HMCN1_uc001grs.1_Silent_p.I1004I NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN Homo sapiens hemicentin 1 (HMCN1), mRNA. 5552 response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 AAGATTTAATCCGGCTGGTTG 0.468000 65 10 0 0 1 0 0 PTCHD3 374308 broad.mit.edu 37 10 27702324 27702324 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr10:27702324G>A uc001itu.2 - 0 974 c.856C>T c.(856-858)Ccc>Tcc p.P286S NM_001034842 NP_001030014 Q3KNS1 PTHD3_HUMAN Homo sapiens patched domain containing 3 (PTCHD3), mRNA. 286 spermatid development integral to membrane hedgehog receptor activity NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 55 TTGTAGGCGGGGAAGGAGATG 0.632000 35 24 0 0 1 0 0 BCL11A 53335 broad.mit.edu 37 2 60687590 60687590 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr2:60687590C>T uc002sae.1 - 3 2685 c.2457G>A c.(2455-2457)atG>atA p.M819I BCL11A_uc002sab.3_Intron|BCL11A_uc002sac.3_Intron|BCL11A_uc010ypi.2_Intron|BCL11A_uc010ypj.2_Intron|BCL11A_uc002sad.1_Missense_Mutation_p.M667I|BCL11A_uc002saf.1_Missense_Mutation_p.M785I NM_022893 NP_075044 Q9H165 BC11A_HUMAN Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA. 819 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) GCCATTTTTTCATGTGTTTCT 0.428000 T IGH@ B-CLL 69 22 0 0 1 0 0 KLHL4 56062 broad.mit.edu 37 X 86869444 86869444 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chrX:86869444C>T uc004efa.2 + 2 780 c.598C>T c.(598-600)Ctc>Ttc p.L200F KLHL4_uc004efb.2_Missense_Mutation_p.L200F NM_057162 NP_476503 Q9C0H6 KLHL4_HUMAN Homo sapiens kelch-like 4 (Drosophila) (KLHL4), transcript variant 2, mRNA. 200 BTB. cytoplasm|microtubule cytoskeleton|nucleolus actin binding p.V199F(1) NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1) 67 CAGGTTGGTTCTCAGCGCAGT 0.373000 41 7 0 0 1 0 0 SI 6476 broad.mit.edu 37 3 164727088 164727088 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr3:164727088C>T uc003fei.3 - 34 4221 c.4158G>A c.(4156-4158)atG>atA p.M1386I NM_001041 NP_001032 P14410 SUIS_HUMAN Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA. 1386 Sucrase. carbohydrate metabolic process|polysaccharide digestion Golgi apparatus|apical plasma membrane|brush border|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) CATCAAACTTCATCTTTTCAT 0.373000 HNSCC(35;0.089) 18 14 0 0 1 0 0 KPNA4 3840 broad.mit.edu 37 3 160253349 160253349 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr3:160253349G>A uc003fdn.3 - 4 545 c.239C>T c.(238-240)gCt>gTt p.A80V NM_002268 NP_002259 O00629 IMA4_HUMAN Homo sapiens karyopherin alpha 4 (importin alpha 3) (KPNA4), mRNA. 80 NLS-bearing substrate import into nucleus cytoplasm|nuclear pore protein binding breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2) 22 Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216) ATCACTTGAAGCATTCtataa 0.318000 11 5 0 0 1 0 0 ZNF208 7757 broad.mit.edu 37 19 22171661 22171661 + Nonsense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr19:22171661C>T uc021urr.1 - 1 203 c.54G>A c.(52-54)tgG>tgA p.W18* ZNF208_uc002nqo.1_Nonsense_Mutation_p.W18*|ZNF208_uc002nqq.3_Non-coding_Transcript NM_007153 NP_009084 Homo sapiens zinc finger protein 208 (ZNF208), mRNA. breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) CCAGGCATTGCCACTCCTCCA 0.403000 133 49 0 0 1 0 0 NR0B2 8431 broad.mit.edu 37 1 27240412 27240412 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:27240412C>T uc001bnf.3 - 0 156 c.20G>A c.(19-21)gGg>gAg p.G7E BC016143_uc021ojq.1_Intron NM_021969 NP_068804 Q15466 NR0B2_HUMAN Homo sapiens nuclear receptor subfamily 0, group B, member 2 (NR0B2), mRNA. 7 cholesterol metabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm DNA binding|protein domain specific binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity NS(1)|large_intestine(1)|lung(3) 5 all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.01e-51)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419) TGGGCAGGCCCCTGGTTGGCT 0.607000 34 38 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195475900 195475900 + Missense_Mutation SNP C T T rs143578760 byFrequency TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr3:195475900C>T uc021xjp.1 - 23 16063 c.15907G>A c.(15907-15909)Gat>Aat p.D5303N MUC4_uc010hzq.3_Missense_Mutation_p.D160N|MUC4_uc003fuz.3_Missense_Mutation_p.D901N|MUC4_uc003fva.3_Missense_Mutation_p.D783N|MUC4_uc003fvb.3_Missense_Mutation_p.D819N|MUC4_uc003fvc.3_Non-coding_Transcript|MUC4_uc003fvd.3_Non-coding_Transcript|MUC4_uc003fve.3_Missense_Mutation_p.D819N|MUC4_uc010hzr.3_Non-coding_Transcript|MUC4_uc021xjm.1_Missense_Mutation_p.D812N|MUC4_uc021xjn.1_Missense_Mutation_p.D992N|MUC4_uc021xjo.1_Missense_Mutation_p.D783N|MUC4_uc021xjg.1_Missense_Mutation_p.D783N|MUC4_uc021xjh.1_Non-coding_Transcript|MUC4_uc021xji.1_Missense_Mutation_p.D867N|MUC4_uc021xjj.1_Missense_Mutation_p.D867N|MUC4_uc021xjk.1_Missense_Mutation_p.D1044N|MUC4_uc021xjl.1_Missense_Mutation_p.D783N|MUC4_uc003fvo.3_Missense_Mutation_p.D1067N|MUC4_uc003fvp.3_Missense_Mutation_p.D1016N NM_018406 NP_060876 Q99102 MUC4_HUMAN Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA. 2060 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) TTGTAGCCATCGCATCTGAAG 0.547000 11 6 0 0 1 0 0 PLVAP 83483 broad.mit.edu 37 19 17476401 17476401 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr19:17476401C>T uc002ngk.1 - 2 913 c.873G>A c.(871-873)cgG>cgA p.R291R NM_031310 NP_112600 Q9BX97 PLVAP_HUMAN Homo sapiens plasmalemma vesicle associated protein (PLVAP), mRNA. 291 caveola|integral to membrane|perinuclear region of cytoplasm cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 CGATATCCGCCCGGAGGCTCC 0.662000 38 33 0 0 1 0 0 HCLS1 3059 broad.mit.edu 37 3 121351959 121351959 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr3:121351959C>T uc003eeh.4 - 10 1088 c.963G>A c.(961-963)agG>agA p.R321R HCLS1_uc011bjj.2_Silent_p.R284R|HCLS1_uc011bjk.1_Non-coding_Transcript NM_005335 NP_005326 P14317 HCLS1_HUMAN Homo sapiens hematopoietic cell-specific Lyn substrate 1 (HCLS1), mRNA. 321 erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus mitochondrion|nucleus|plasma membrane DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 GBM - Glioblastoma multiforme(114;0.0912) CTGGGTGTTCCCTGCTGGTTC 0.552000 10 6 0 0 1 0 0 IGF2BP1 10642 broad.mit.edu 37 17 47118862 47118862 + Splice_Site SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr17:47118862C>T uc002iom.3 + 8 1275 c.941_splice c.e8+1 p.S314_splice IGF2BP1_uc010dbj.3_Splice_Site_p.S175_splice NM_006546 NP_006537 Q9NZI8 IF2B1_HUMAN Homo sapiens insulin-like growth factor 2 mRNA binding protein 1 (IGF2BP1), transcript variant 1, mRNA. 314 KH 2.|Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).|Sufficient for nuclear export. CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity p.?(1)|p.S314L(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 ACCATCTCCTCGTAAGGCTCT 0.463000 31 14 0 0 1 0 0 DUOX2 50506 broad.mit.edu 37 15 45386800 45386800 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr15:45386800G>A uc001zun.3 - 32 4688 c.4485C>T c.(4483-4485)ttC>ttT p.F1495F DUOX2_uc010bea.3_Silent_p.F1495F NM_014080 NP_054799 Q9NRD8 DUOX2_HUMAN Homo sapiens dual oxidase 2 (DUOX2), mRNA. 1495 cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus apical plasma membrane|integral to membrane NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1) 63 all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068) AGAAGGGCTCGAAGGGGGGAC 0.637000 20 13 0 0 1 0 0 TRIM41 90933 broad.mit.edu 37 5 180661628 180661629 + Silent DNP CC TT TT TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr5:180661628_180661629CC>TT uc003mne.2 + 5 2483_2484 c.1746_1747CC>TT c.(1744-1749)tacctg>taTTtg p.582_583YL>YL TRIM41_uc003mnc.2_3'UTR|TRIM41_uc003mnd.2_Intron|TRIM41_uc003mnf.2_Intron|TRIM41_uc003mng.1_Silent_p.162_163YL>YL NM_033549 NP_291027 Q8WV44 TRI41_HUMAN Homo sapiens tripartite motif containing 41 (TRIM41), transcript variant 1, mRNA. 582 B30.2/SPRY. cytoplasm|nucleus ligase activity|protein binding|zinc ion binding NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 26 all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684) all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TTGGTGTGTACCTGGACTATGA 0.594000 105 62 0 0 1 0 0 ACTG1 71 broad.mit.edu 37 17 79478025 79478025 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr17:79478025G>A uc002kak.2 - 4 1170 c.912C>T c.(910-912)acC>acT p.T304T ACTG1_uc002kag.3_Non-coding_Transcript|ACTG1_uc002kal.2_Silent_p.T304T|ACTG1_uc021ufb.1_5'Flank NM_001199954 NP_001186883 P63261 ACTG_HUMAN Homo sapiens actin, gamma 1 (ACTG1), transcript variant 1, mRNA. 304 adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement cytoskeleton|cytosol ATP binding|identical protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1) 29 all_neural(118;0.0878)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547) CCGGGTACATGGTGGTGCCGC 0.607000 110 32 0 0 1 0 0 TRPC4 7223 broad.mit.edu 37 13 38213255 38213255 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr13:38213255C>T uc010abx.3 - 9 2383 c.2148G>A c.(2146-2148)agG>agA p.R716R TRPC4_uc010abv.3_Silent_p.R291R|TRPC4_uc001uwt.3_Silent_p.R711R|TRPC4_uc001uws.3_Silent_p.R711R|TRPC4_uc010tey.2_Silent_p.R711R|TRPC4_uc010abw.3_Silent_p.R538R|TRPC4_uc010aby.3_Silent_p.R646R NM_003306 NP_003297 Q9UBN4 TRPC4_HUMAN Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA. 711 Binds to ITPR1, ITPR2 and ITPR3. axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 83 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) TCACCAGGTTCCTCATAACTT 0.393000 165 38 0 0 1 0 0 MERTK 10461 broad.mit.edu 37 2 112725720 112725720 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr2:112725720C>T uc002thk.1 + 5 973 c.851C>T c.(850-852)cCc>cTc p.P284L MERTK_uc002thl.1_Missense_Mutation_p.P108L NM_006343 NP_006334 Q12866 MERTK_HUMAN Homo sapiens c-mer proto-oncogene tyrosine kinase (MERTK), mRNA. 284 Fibronectin type-III 1. cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10) 46 GCAGCAATTCCCTCCCCACCA 0.443000 30 20 0 0 1 0 0 LHX4 89884 broad.mit.edu 37 1 180217586 180217586 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:180217586C>T uc001goe.2 + 1 475 c.243C>T c.(241-243)ttC>ttT p.F81F NM_033343 NP_203129 Q969G2 LHX4_HUMAN Homo sapiens LIM homeobox 4 (LHX4), mRNA. 81 LIM zinc-binding 1. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1) 16 AGGAGGACTTCTTCAAGTAAG 0.612000 40 45 0 0 1 0 0 POU4F3 5459 broad.mit.edu 37 5 145719371 145719371 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr5:145719371G>A uc003loa.2 + 1 470 c.381G>A c.(379-381)ctG>ctA p.L127L NM_002700 NP_002691 Q15319 PO4F3_HUMAN Homo sapiens POU class 4 homeobox 3 (POU4F3), mRNA. 127 sensory perception of sound|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 17 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CGCCCACGCTGAGTGTGAGCG 0.687000 58 23 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 138208565 138208565 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr2:138208565C>T uc002tva.1 + 13 3017 c.3017C>T c.(3016-3018)cCa>cTa p.P1006L THSD7B_uc010zbj.1_Intron NM_001080427 NP_001073896 Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA. NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) GGAGGACGACCATGTCCCAAA 0.388000 10 3 0 0 1 0 0 HGF 3082 broad.mit.edu 37 7 81381529 81381529 + Nonsense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr7:81381529G>A uc003uhl.3 - 4 697 c.532C>T c.(532-534)Cga>Tga p.R178* HGF_uc003uhm.3_Nonsense_Mutation_p.R173*|HGF_uc003uhn.1_Nonsense_Mutation_p.R178*|HGF_uc003uho.1_Nonsense_Mutation_p.R173*|HGF_uc003uhp.3_Nonsense_Mutation_p.R178* NM_000601 NP_000592 P14210 HGF_HUMAN Homo sapiens hepatocyte growth factor (hepapoietin A; scatter factor) (HGF), transcript variant 1, mRNA. 178 Kringle 1. epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling platelet alpha granule lumen growth factor activity|serine-type endopeptidase activity NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 75 CGAGGATTTCGACAGTAGTTT 0.418000 33 34 0 0 1 0 0 INTS4 92105 broad.mit.edu 37 11 77672120 77672120 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr11:77672120G>A uc001oys.3 - 4 564 c.536C>T c.(535-537)tCt>tTt p.S179F INTS4_uc001oyt.3_Non-coding_Transcript|INTS4_uc001oyu.1_Missense_Mutation_p.S179F NM_033547 NP_291025 Q96HW7 INT4_HUMAN Homo sapiens integrator complex subunit 4 (INTS4), mRNA. 179 snRNA processing integrator complex protein binding INTS4/GAB2(2) NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1) 32 all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152) Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23) TTTCTCCAAAGAGCCAAGATT 0.388000 34 69 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179642634 179642634 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr2:179642634C>T uc021vsy.1 - 24 4502 c.4277G>A c.(4276-4278)aGg>aAg p.R1426K TTN_uc021vsz.1_Missense_Mutation_p.R1380K|TTN_uc021vta.1_Missense_Mutation_p.R1380K|TTN_uc021vtb.1_Missense_Mutation_p.R1380K|TTN_uc002unb.2_Missense_Mutation_p.R1426K|AK123298_uc002unc.1_Non-coding_Transcript NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 1426 ZIS5. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AGGAGACATCCTTGCAGGTGA 0.493000 25 25 0 0 1 0 0 DCTD 1635 broad.mit.edu 37 4 183814198 183814198 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr4:183814198G>A uc003ivf.3 - 4 618 c.444C>T c.(442-444)gcC>gcT p.A148A DCTD_uc003ivg.3_Silent_p.A159A|DCTD_uc010irw.3_Silent_p.A89A|DCTD_uc003ivh.3_Silent_p.A89A NM_001921 NP_001912 P32321 DCTD_HUMAN Homo sapiens dCMP deaminase (DCTD), transcript variant 2, mRNA. 148 nucleotide biosynthetic process|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide metabolic process cytosol dCMP deaminase activity|zinc ion binding endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|urinary_tract(1) 18 all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00666)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.202) all cancers(43;1.65e-24)|Epithelial(43;3.44e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.39e-10)|Colorectal(24;4.69e-07)|COAD - Colon adenocarcinoma(29;7.07e-05)|STAD - Stomach adenocarcinoma(60;0.000118)|GBM - Glioblastoma multiforme(59;0.000472)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.0419) ATGTCACCCCGGCCATATTAA 0.493000 10 9 0 0 1 0 0 HRNR 388697 broad.mit.edu 37 1 152187520 152187520 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:152187520G>A uc001ezt.1 - 2 6661 c.6585C>T c.(6583-6585)tcC>tcT p.S2195S NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN Homo sapiens hornerin (HRNR), mRNA. 2195 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CGTGGCTGGAGGAGTGCCCCG 0.627000 489 62 0 0 1 0 0 HEY2 23493 broad.mit.edu 37 6 126073177 126073177 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr6:126073177C>T uc003qad.3 + 2 378 c.187C>T c.(187-189)Cgg>Tgg p.R63W BC036196_uc003qac.3_5'Flank|HEY2_uc011ebr.2_Missense_Mutation_p.R17W NM_012259 NP_036391 Q9UBP5 HEY2_HUMAN Homo sapiens hairy/enhancer-of-split related with YRPW motif 2 (HEY2), mRNA. 63 Helix-loop-helix motif.|Transcriptional repression and interaction with NCOR1 and SIN3A (By similarity). Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|smooth muscle cell differentiation|transcription, DNA-dependent transcriptional repressor complex RNA polymerase II activating transcription factor binding|histone deacetylase binding|sequence-specific DNA binding breast(1)|large_intestine(7)|lung(5)|prostate(1) 14 UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193) GCGTCGGGATCGGATAAATAA 0.388000 32 29 0 0 1 0 0 TNRC6B 23112 broad.mit.edu 37 22 40661423 40661424 + Missense_Mutation DNP GG AA AA TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr22:40661423_40661424GG>AA uc011aor.2 + 4 1400_1401 c.1189_1190GG>AA c.(1189-1191)gga>AAa p.G397K TNRC6B_uc003aym.3_Intron|TNRC6B_uc003ayn.4_Missense_Mutation_p.G397K|TNRC6B_uc003ayo.3_Missense_Mutation_p.G201K NM_001162501 NP_001155973 Q9UPQ9 TNR6B_HUMAN Homo sapiens trinucleotide repeat containing 6B (TNRC6B), transcript variant 1, mRNA. 397 gene silencing by RNA|regulation of translation cytoplasmic mRNA processing body RNA binding|nucleotide binding breast(1) 1 AATGCCCTTTGGAATGGGCTTG 0.490000 35 20 0 0 1 0 0 UPB1 51733 broad.mit.edu 37 22 24916417 24916417 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr22:24916417C>T uc003aaf.3 + 6 2149 c.854C>T c.(853-855)gCc>gTc p.A285V UPB1_uc003aae.3_Missense_Mutation_p.A217V|UPB1_uc021wnh.1_Non-coding_Transcript NM_016327 NP_057411 Q9UBR1 BUP1_HUMAN Homo sapiens ureidopropionase, beta (UPB1), mRNA. 285 CN hydrolase. pyrimidine base metabolic process|pyrimidine nucleoside catabolic process cytosol beta-ureidopropionase activity|metal ion binding endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 Colorectal(2;0.0339) TTCACCTGCGCCATCAATCGA 0.612000 15 12 0 0 1 0 0 ADH1B 125 broad.mit.edu 37 4 100235009 100235009 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr4:100235009G>A uc003hus.4 - 5 881 c.797C>T c.(796-798)tCg>tTg p.S266L ADH1B_uc003hut.4_Missense_Mutation_p.S226L|ADH1B_uc011ceh.2_Missense_Mutation_p.S111L|ADH1B_uc011cei.1_Missense_Mutation_p.S226L NM_000668 NP_000659 P00325 ADH1B_HUMAN Homo sapiens alcohol dehydrogenase 1B (class I), beta polypeptide (ADH1B), mRNA. 266 ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase activity, zinc-dependent|zinc ion binding p.S266L(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 33 OV - Ovarian serous cystadenocarcinoma(123;1.02e-07) Fomepizole(DB01213)|NADH(DB00157) GACTTCAAACGAAAAATCCAC 0.463000 300 60 0 0 1 0 0 TRPV4 59341 broad.mit.edu 37 12 110222242 110222242 + Splice_Site SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr12:110222242C>T uc001tpj.2 - 14 2432 c.2337_splice c.e14-1 p.R779_splice TRPV4_uc001tpg.2_Splice_Site_p.R745_splice|TRPV4_uc021rdp.1_Splice_Site_p.R719_splice|TRPV4_uc001tph.2_Splice_Site_p.R732_splice|TRPV4_uc001tpi.2_Splice_Site_p.R672_splice|TRPV4_uc001tpk.2_Splice_Site_p.R779_splice NM_021625 NP_067638 Q9HBA0 TRPV4_HUMAN Homo sapiens transient receptor potential cation channel, subfamily V, member 4 (TRPV4), transcript variant 1, mRNA. 779 actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane SH2 domain binding|actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1) 35 CCTCATCCACCCTGGCAGGGC 0.527000 57 45 0 0 1 0 0 ADD2 119 broad.mit.edu 37 2 70890595 70890595 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr2:70890595G>A uc021vjc.1 - 15 2408 c.2143C>T c.(2143-2145)Ctg>Ttg p.L715L ADD2_uc010fds.2_Non-coding_Transcript|ADD2_uc002sgy.3_3'UTR|ADD2_uc002sgz.3_Silent_p.L715L NM_001185054 NP_001608 P35612 ADDB_HUMAN Homo sapiens adducin 2 (beta) (ADD2), transcript variant 5, mRNA. 715 Interaction with calmodulin (Potential). actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding F-actin capping protein complex|cytoplasm|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2) 36 CTCTTTTTCAGGAAGGAGGGG 0.542000 58 86 0 0 1 0 0 UBXN6 80700 broad.mit.edu 37 19 4447579 4447579 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr19:4447579G>A uc002man.2 - 5 680 c.583C>T c.(583-585)Cgg>Tgg p.R195W UBXN6_uc002mam.2_Missense_Mutation_p.R142W NM_025241 NP_079517 Q9BZV1 UBXN6_HUMAN Homo sapiens UBX domain protein 6 (UBXN6), transcript variant 1, mRNA. 195 PUB. microtubule organizing center|nucleus protein binding NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1) 12 TTGATCTTCCGGTACTTCTCC 0.677000 75 50 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103275927 103275927 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr7:103275927C>T uc022ajr.1 - 18 2570 c.2410G>A c.(2410-2412)Ggg>Agg p.G804R RELN_uc022ajq.1_Missense_Mutation_p.G804R|RELN_uc010liz.3_Missense_Mutation_p.G804R NM_005045 NP_005036 P78509 RELN_HUMAN Homo sapiens reelin (RELN), transcript variant 1, mRNA. 804 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) CAAGTTATCCCATTATCATAA 0.433000 72 19 0 0 1 0 0 NLRP12 91662 broad.mit.edu 37 19 54313123 54313123 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr19:54313123C>T uc002qcj.4 - 2 2010 c.1790G>A c.(1789-1791)aGc>aAc p.S597N NLRP12_uc010eqw.3_5'Flank|NLRP12_uc002qch.4_Missense_Mutation_p.S597N|NLRP12_uc002qci.4_Missense_Mutation_p.S597N|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Missense_Mutation_p.S597N NM_144687 NP_653288 P59046 NAL12_HUMAN Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA. 597 negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of Toll signaling pathway|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB cytoplasm ATP binding|caspase activator activity|protein binding p.Q596*(1) NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 80 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.026) CTGAGCTTTGCTTTGGATCCA 0.572000 64 23 0 0 1 0 0 ARID1B 57492 broad.mit.edu 37 6 157528219 157528219 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr6:157528219C>T uc003qqp.3 + 18 5905 c.5905C>T c.(5905-5907)Cac>Tac p.H1969Y ARID1B_uc003qqo.3_Missense_Mutation_p.H1982Y|ARID1B_uc003qqn.3_Missense_Mutation_p.H2022Y NM_017519 NP_059989 Q8NFD5 ARI1B_HUMAN Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA. 1969 chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent SWI/SNF complex DNA binding|protein binding|transcription coactivator activity NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3) 81 Breast(66;0.000162)|Ovarian(120;0.0265) OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05) GATTCTTCTTCACCACGAGCA 0.537000 47 32 0 0 1 0 0 WDR63 126820 broad.mit.edu 37 1 85573824 85573824 + Missense_Mutation SNP T A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:85573824T>A uc001dkt.3 + 14 1853 c.1662T>A c.(1660-1662)ttT>ttA p.F554L WDR63_uc009wcl.3_Missense_Mutation_p.F515L NM_145172 NP_660155 Q8IWG1 WDR63_HUMAN Homo sapiens WD repeat domain 63 (WDR63), mRNA. 554 NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3) 36 all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166) CATCTACTTTTTTGCATCTGG 0.378000 57 21 0 0 1 0 0 RPTOR 57521 broad.mit.edu 37 17 78899217 78899217 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr17:78899217C>T uc002jyt.1 + 23 3661 c.2856C>T c.(2854-2856)tcC>tcT p.S952S RPTOR_uc010wug.1_Silent_p.S794S NM_020761 NP_065812 Q8N122 RPTOR_HUMAN Homo sapiens regulatory associated protein of MTOR, complex 1 (RPTOR), transcript variant 1, mRNA. 952 TOR signaling cascade|cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of TOR signaling cascade|positive regulation of protein serine/threonine kinase activity TORC1 complex|cytosol|lysosome protein complex binding breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3) 44 GTTTCATCTCCGCCACGGTGC 0.577000 27 24 0 0 1 0 0 DGKI 9162 broad.mit.edu 37 7 137206693 137206693 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr7:137206693G>A uc003vtt.3 - 20 2168 c.2167C>T c.(2167-2169)Cgt>Tgt p.R723C DGKI_uc003vtu.3_Missense_Mutation_p.R423C NM_004717 NP_004708 O75912 DGKI_HUMAN Homo sapiens diacylglycerol kinase, iota (DGKI), mRNA. 723 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 ATCCTCAGACGATCTGGGACA 0.463000 24 7 0 0 1 0 0 EFHC2 80258 broad.mit.edu 37 X 44101481 44101481 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chrX:44101481C>T uc004dgb.4 - 7 1255 c.1166G>A c.(1165-1167)aGg>aAg p.R389K EFHC2_uc022bvg.1_5'UTR NM_025184 NP_079460 Q5JST6 EFHC2_HUMAN Homo sapiens EF-hand domain (C-terminal) containing 2 (EFHC2), mRNA. 389 calcium ion binding NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1) 29 TGGAAATTTCCTTTCTATTTT 0.408000 0 10 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113933898 113933898 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr8:113933898C>T uc003ynu.3 - 9 1750 c.1591G>A c.(1591-1593)Gaa>Aaa p.E531K CSMD3_uc003ynt.3_Missense_Mutation_p.E491K|CSMD3_uc011lhx.2_Missense_Mutation_p.E427K NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA. 531 Sushi 2. integral to membrane|plasma membrane p.E531K(2)|p.E491K(1)|p.E531D(1) breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 GCAAAAACTTCAGCTATCCGT 0.378000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 51 37 0 0 1 0 0 COG4 25839 broad.mit.edu 37 16 70557456 70557456 + Splice_Site SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr16:70557456C>T uc002ezc.3 - 1 1 c.-10_splice c.e1-1 COG4_uc002ezd.3_Splice_Site|COG4_uc010cfu.3_Splice_Site|COG4_uc002eze.3_Splice_Site|SF3B3_uc002ezf.3_5'Flank NM_015386 NP_056201 Q9H9E3 COG4_HUMAN Homo sapiens component of oligomeric golgi complex 4 (COG4), transcript variant 1, mRNA. Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane|Golgi transport complex protein binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2) 33 Ovarian(137;0.0694) TTCGGCACTTCCGGTCCCGCG 0.582000 33 13 0 0 1 0 0 C2orf62 375307 broad.mit.edu 37 2 219232161 219232161 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr2:219232161G>A uc002vhr.3 + 8 870 c.841G>A c.(841-843)Gag>Aag p.E281K BC038211_uc002vht.3_Intron NM_198559 NP_940961 Q7Z7H3 CB062_HUMAN Homo sapiens chromosome 2 open reading frame 62 (C2orf62), mRNA. 281 endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 16 Renal(207;0.0915) Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AGATGAGATTGAGCCACGCCC 0.572000 68 66 0 0 1 0 0 KIAA1210 57481 broad.mit.edu 37 X 118243074 118243074 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chrX:118243074G>A uc004era.4 - 4 742 c.742C>T c.(742-744)Cct>Tct p.P248S NM_020721 NP_065772 Q9ULL0 K1210_HUMAN Homo sapiens KIAA1210 (KIAA1210), mRNA. 248 breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 64 TCCATAGAAGGAAACATTTTA 0.493000 5 25 0 0 1 0 0 PBX1 5087 broad.mit.edu 37 1 164761920 164761920 + Missense_Mutation SNP C G G TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:164761920C>G uc001gct.3 + 2 918 c.455C>G c.(454-456)gCc>gGc p.A152G PBX1_uc010pku.2_Missense_Mutation_p.A152G|PBX1_uc001gcs.3_Missense_Mutation_p.A152G|PBX1_uc010pkv.2_Missense_Mutation_p.A69G|PBX1_uc010pkw.1_Missense_Mutation_p.A42G NM_002585 NP_002576 P40424 PBX1_HUMAN Homo sapiens pre-B-cell leukemia homeobox 1 (PBX1), transcript variant 1, mRNA. 152 negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription factor binding EWSR1/PBX1(3) large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 4 GATTACAGAGCCAAACTCTCA 0.597000 T """TCF3, EWSR1""" """pre B-ALL, myoepithelioma""" 84 17 0 0 1 0 0 SFTPA1 653509 broad.mit.edu 37 10 81373699 81373699 + Missense_Mutation SNP C T T rs139806726 byFrequency TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr10:81373699C>T uc009xry.3 + 5 704 c.622C>T c.(622-624)Ccc>Tcc p.P208S SFTPA1_uc001kap.3_Missense_Mutation_p.P193S|SFTPA1_uc001kar.3_Missense_Mutation_p.P193S|SFTPA1_uc001kaq.3_Missense_Mutation_p.P193S|SFTPA1_uc001kao.3_Missense_Mutation_p.P159S|SFTPA1_uc021puu.1_Missense_Mutation_p.P144S|SFTPA1_uc010qlt.2_Missense_Mutation_p.P134S|SFTPA1_uc009xrz.3_Missense_Mutation_p.P123S NM_001093770 NP_005402 Q8IWL2 SFTA1_HUMAN Homo sapiens surfactant protein A1 (SFTPA1), transcript variant 2, mRNA. 193 C-type lectin. cell junction assembly|respiratory gaseous exchange collagen|extracellular space lipid transporter activity|sugar binding endometrium(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149) Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229) GACTGAGGGTCCCAGCCCTGG 0.562000 56 123 0 0 1 0 0 ATP9B 374868 broad.mit.edu 37 18 76870457 76870458 + Missense_Mutation DNP GA AT AT TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr18:76870457_76870458GA>AT uc002lmx.3 + 2 410_411 c.396_397GA>AT c.(394-399)aggaat>agATat p.N133Y ATP9B_uc002lmv.1_Non-coding_Transcript|ATP9B_uc002lmw.1_Missense_Mutation_p.N133Y|ATP9B_uc002lmy.1_Non-coding_Transcript|ATP9B_uc002lmz.1_5'Flank|ATP9B_uc002lmu.3_Missense_Mutation_p.N133Y NM_198531 NP_940933 O43861 ATP9B_HUMAN Homo sapiens ATPase, class II, type 9B (ATP9B), mRNA. 133 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1) 38 Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171) OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405) AACATCCCAGGAATTCTATAAA 0.396000 21 7 0 0 1 0 0 ZNF624 57547 broad.mit.edu 37 17 16526804 16526804 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr17:16526804G>A uc010cpi.2 - 5 1488 c.1396C>T c.(1396-1398)Cat>Tat p.H466Y ZNF624_uc021tre.1_Missense_Mutation_p.H340Y NM_020787 NP_065838 Q9P2J8 ZN624_HUMAN Homo sapiens zinc finger protein 624 (ZNF624), mRNA. 466 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1) 26 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) TCTCCAGTATGAATCCTCTGA 0.383000 44 18 0 0 1 0 0 ZNF32 7580 broad.mit.edu 37 10 44139976 44139976 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr10:44139976C>T uc001jbb.3 - 2 533 c.344G>A c.(343-345)aGg>aAg p.R115K ZNF32-AS3_uc001jba.2_Intron|ZNF32_uc001jbc.3_Missense_Mutation_p.R115K NM_001005368 NP_008904 P17041 ZNF32_HUMAN Homo sapiens zinc finger protein 32 (ZNF32), transcript variant 2, mRNA. 115 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1) 14 all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157) Lung(62;0.179) GCCTTTGGCCCTGAAGCTTTT 0.468000 9 27 0 0 1 0 0 CDH13 1012 broad.mit.edu 37 16 83712043 83712043 + Missense_Mutation SNP C A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr16:83712043C>A uc010vns.2 + 10 1920 c.1656C>A c.(1654-1656)gaC>gaA p.D552E CDH13_uc002fgx.3_Missense_Mutation_p.D505E|CDH13_uc010vnt.2_Missense_Mutation_p.D251E|CDH13_uc010vnu.2_Missense_Mutation_p.D466E NM_001220488 NP_001207417 P55290 CAD13_HUMAN Homo sapiens cadherin 13, H-cadherin (heart) (CDH13), transcript variant 2, mRNA. 505 Cadherin 4. Rac protein signal transduction|Rho protein signal transduction|adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|sprouting angiogenesis anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding large_intestine(1) 1 all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09) COAD - Colon adenocarcinoma(5;0.0268) CGGACCCCGACTCCCTGCAGC 0.607000 36 12 3.07112e-06 3.09865e-06 1 1 0 TCR-alpha 0 broad.mit.edu 37 14 22574151 22574151 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr14:22574151C>T uc001wdb.2 + 1 408 c.371C>T c.(370-372)cCa>cTa p.P124L TCRA_uc001wbw.2_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron SubName: Full=cDNA FLJ59026; ACCTGCAGCCCATACGCAAAC 0.453000 11 10 0 0 1 0 0 RAB11FIP5 26056 broad.mit.edu 37 2 73315293 73315293 + Nonsense_Mutation SNP C A A rs59033238 TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr2:73315293C>A uc002siu.4 - 2 1694 c.1453G>T c.(1453-1455)Gaa>Taa p.E485* RAB11FIP5_uc002sit.4_Nonsense_Mutation_p.E407* NM_015470 NP_056285 Q9BXF6 RFIP5_HUMAN Homo sapiens RAB11 family interacting protein 5 (class I) (RAB11FIP5), mRNA. 485 protein transport mitochondrial outer membrane|recycling endosome membrane gamma-tubulin binding biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 23 CCCCCCTTTTCCCCCAGAGAG 0.627000 68 69 3.07184e-27 3.16559e-27 1 1 0 GRB14 2888 broad.mit.edu 37 2 165383642 165383642 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr2:165383642C>T uc002ucl.3 - 3 1026 c.485G>A c.(484-486)aGa>aAa p.R162K GRB14_uc010zcv.2_Missense_Mutation_p.R75K NM_004490 NP_004481 Q14449 GRB14_HUMAN Homo sapiens growth factor receptor-bound protein 14 (GRB14), mRNA. 162 Ras-associating. blood coagulation|leukocyte migration Golgi membrane|cytosol|endosome membrane|microsome|plasma membrane SH3/SH2 adaptor activity breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 32 TTCTATTGTTCTTTCTGTAAA 0.274000 15 14 0 0 1 0 0 ARID2 196528 broad.mit.edu 37 12 46243472 46243472 + Nonsense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr12:46243472C>T uc001ros.1 + 13 1825 c.1825C>T c.(1825-1827)Cag>Tag p.Q609* ARID2_uc001ror.3_Nonsense_Mutation_p.Q609*|ARID2_uc009zkg.1_Nonsense_Mutation_p.Q65*|ARID2_uc009zkh.1_Nonsense_Mutation_p.Q236*|ARID2_uc001rou.1_5'Flank NM_152641 NP_689854 Q68CP9 ARID2_HUMAN Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA. 609 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) ACTTCCCATTCAGATGTACTA 0.438000 """N, S, F""" hepatocellular carcinoma 132 71 0 0 1 0 0 PEAR1 375033 broad.mit.edu 37 1 156875116 156875116 + Splice_Site SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:156875116G>A uc001fqj.1 + 4 323 c.207_splice c.e4-1 p.T69_splice PEAR1_uc009wsl.1_5'Flank|PEAR1_uc001fqk.1_5'Flank NM_001080471 NP_001073940 Q5VY43 PEAR1_HUMAN Homo sapiens platelet endothelial aggregation receptor 1 (PEAR1), mRNA. 69 EMI. integral to membrane breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1) 43 all_hematologic(923;0.0839)|Hepatocellular(266;0.158) GCCTCCGCAGGGTTGTATACC 0.652000 32 44 0 0 1 0 0 LACC1 144811 broad.mit.edu 37 13 44455284 44455284 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr13:44455284G>A uc010acg.3 + 1 648 c.163G>A c.(163-165)Gat>Aat p.D55N CCDC122_uc010acf.3_5'Flank|LACC1_uc001uzf.4_Missense_Mutation_p.D55N NM_001128303 NP_694950 Q8IV20 CM031_HUMAN Homo sapiens laccase (multicopper oxidoreductase) domain containing 1 (LACC1), transcript variant 1, mRNA. 55 CTATGAAAGGGATGGAGAACA 0.408000 68 12 0 0 1 0 0 BAP1 8314 broad.mit.edu 37 3 52441477 52441477 + Splice_Site SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr3:52441477C>T uc003ddx.3 - 6 491 c.376_splice c.e6-1 p.S126_splice BAP1_uc010hmh.3_5'Flank NM_004656 NP_004647 Q92560 BAP1_HUMAN Homo sapiens BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) (BAP1), mRNA. 126 monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process PR-DUB complex|cytoplasm|nucleolus chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity p.?(2) NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2) 180 BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277) ATCCTTTGCTCTACGGGGAAG 0.537000 """N, Mis, F, S, O""" """uveal melanoma, breast, NSCLC, RCC""" """mesothelioma, uveal melanoma""" 34 17 0 0 1 0 0 XCR1 2829 broad.mit.edu 37 3 46063013 46063013 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr3:46063013G>A uc003cpe.3 - 2 651 c.427C>T c.(427-429)Ctc>Ttc p.L143F AX747832_uc003cpd.1_5'Flank|XCR1_uc003cpf.3_Missense_Mutation_p.L143F|XCR1_uc021wwx.1_Missense_Mutation_p.L143F NM_005283 NP_005274 P46094 XCR1_HUMAN Homo sapiens chemokine (C motif) receptor 1 (XCR1), transcript variant 1, mRNA. 143 G-protein signaling, coupled to cyclic nucleotide second messenger|chemotaxis|inflammatory response integral to plasma membrane chemokine receptor activity NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2) 14 BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203) CGGCAGCGGAGGGTGGGGACG 0.607000 13 6 0 0 1 0 0 PIK3C2G 5288 broad.mit.edu 37 12 18524130 18524130 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr12:18524130G>A uc001rdt.3 + 11 1758 c.1642G>A c.(1642-1644)Gaa>Aaa p.E548K PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.E589K|PIK3C2G_uc010sic.2_Missense_Mutation_p.E367K NM_004570 NP_004561 O75747 P3C2G_HUMAN Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA. 548 cell communication|phosphatidylinositol-mediated signaling membrane|phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 66 Hepatocellular(102;0.194) TTTTCCCCTTGAAATAAAGTC 0.378000 11 14 0 0 1 0 0 AKAP8 10270 broad.mit.edu 37 19 15484042 15484042 + Missense_Mutation SNP C A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr19:15484042C>A uc002nav.3 - 4 551 c.481G>T c.(481-483)Gac>Tac p.D161Y AKAP8_uc010dzy.3_5'UTR|AKAP8_uc010dzz.1_Non-coding_Transcript|AKAP8_uc010xog.2_5'UTR NM_005858 NP_005849 O43823 AKAP8_HUMAN Homo sapiens A kinase (PRKA) anchor protein 8 (AKAP8), mRNA. 161 signal transduction nuclear matrix breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2) 26 CCATTGCGGTCGGACCCCAGG 0.667000 39 29 3.69857e-22 3.796e-22 1 1 0 MDN1 23195 broad.mit.edu 37 6 90428268 90428269 + Missense_Mutation DNP GG AA AA TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr6:90428268_90428269GG>AA uc003pnn.1 - 42 6515_6516 c.6399_6400CC>TT c.(6397-6402)ctcctt>ctTTtt p.L2134F NM_014611 NP_055426 Q9NU22 MDN1_HUMAN Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA. 2134 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) GCACTGATAAGGAGGCTATCCC 0.465000 47 38 0 0 1 0 0 CRISP2 7180 broad.mit.edu 37 6 49665577 49665577 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr6:49665577G>A uc003ozn.2 - 7 747 c.511C>T c.(511-513)Cct>Tct p.P171S CRISP2_uc003ozr.2_Missense_Mutation_p.P171S|CRISP2_uc003ozo.2_Missense_Mutation_p.P171S|CRISP2_uc003ozm.2_Missense_Mutation_p.P171S|CRISP2_uc003ozp.2_Missense_Mutation_p.P171S|CRISP2_uc003ozq.2_Missense_Mutation_p.P171S|CRISP2_uc003ozl.2_Missense_Mutation_p.P171S NM_001142417 NP_003287 P16562 CRIS2_HUMAN Homo sapiens cysteine-rich secretory protein 2 (CRISP2), transcript variant 4, mRNA. 171 extracellular space kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 19 Lung NSC(77;0.0161) KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156) ACTTACGCAGGACAATATTGG 0.338000 61 69 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 89924543 89924543 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr5:89924543C>T uc003kju.3 + 7 1499 c.1403C>T c.(1402-1404)cCt>cTt p.P468L GPR98_uc003kjt.3_5'UTR NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA. 468 Calx-beta 4. cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) GCAACAATTCCTCTTACTGTG 0.473000 80 31 0 0 1 0 0 MYLK 4638 broad.mit.edu 37 3 123419227 123419227 + Missense_Mutation SNP T C C TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr3:123419227T>C uc003ego.3 - 17 3370 c.3088A>G c.(3088-3090)Aag>Gag p.K1030E MYLK_uc011bjw.2_Missense_Mutation_p.K1030E|MYLK_uc003egp.3_Missense_Mutation_p.K961E|MYLK_uc003egq.3_Missense_Mutation_p.K1030E|MYLK_uc003egr.3_Missense_Mutation_p.K961E|MYLK_uc003egs.3_Missense_Mutation_p.K854E|MYLK_uc003egt.3_Missense_Mutation_p.K221E NM_053025 NP_444253 Q15746 MYLK_HUMAN Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA. 1030 6 X 12 AA approximate tandem repeats. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) TCAGCAGGCTTGGCGTTGCCC 0.602000 108 50 0 0 1 0 0 HERC2P3 283755 broad.mit.edu 37 15 20645873 20645873 + Missense_Mutation SNP G C C TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr15:20645873G>C uc001ytg.3 - 19 2912 c.2203C>G c.(2203-2205)Cgg>Ggg p.R735G HERC2P3_uc010tyx.1_Non-coding_Transcript|HERC2P3_uc001yth.4_Missense_Mutation_p.R735G|HERC2P3_uc010tyy.2_Missense_Mutation_p.R735G Homo sapiens hect domain and RLD 2 pseudogene 3 (HERC2P3), non-coding RNA. central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 35 CACCAGCTCCGGTGTTGCTCC 0.552000 45 14 0 0 1 0 0 KIAA1804 84451 broad.mit.edu 37 1 233490615 233490615 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:233490615C>T uc001hvt.4 + 3 1430 c.1169C>T c.(1168-1170)tCg>tTg p.S390L KIAA1804_uc001hvs.1_Missense_Mutation_p.S390L NM_032435 NP_115811 Q5TCX8 M3KL4_HUMAN Homo sapiens mixed lineage kinase 4 (KIAA1804), mRNA. 390 Protein kinase. activation of JUN kinase activity|protein autophosphorylation ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|large_intestine(18)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(4) 52 all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122) ATTCGTCCATCGTTTGCCTTA 0.383000 102 40 0 0 1 0 0 YTHDF1 54915 broad.mit.edu 37 20 61834758 61834759 + Missense_Mutation DNP GG AA AA rs148684762 TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr20:61834758_61834759GG>AA uc002yeh.3 - 3 827_828 c.533_534CC>TT c.(532-534)ccc>cTT p.P178L YTHDF1_uc011aaq.2_Missense_Mutation_p.P128L NM_017798 NP_060268 Q9BYJ9 YTHD1_HUMAN Homo sapiens YTH domain family, member 1 (YTHDF1), mRNA. 178 NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2) 24 TGTTCATCCCGGGGGCCTTGCT 0.653000 37 29 0 0 1 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140793336 140793337 + Missense_Mutation DNP GG AA AA TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr5:140793336_140793337GG>AA uc003lkl.2 + 0 594_595 c.594_595GG>AA c.(592-597)ctggta>ctAAta p.V199I 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_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc011day.2_Missense_Mutation_p.V199I NM_018913 NP_061736 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 10 (PCDHGA10), transcript variant 1, mRNA. 195 Cadherin 2. 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) ACCCGGAGCTGGTACTGGAGCA 0.594000 19 21 0 0 1 0 0 CHST8 64377 broad.mit.edu 37 19 34263618 34263618 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr19:34263618C>T uc002nus.4 + 4 1430 c.925C>T c.(925-927)Ccc>Tcc p.P309S CHST8_uc002nut.4_Missense_Mutation_p.P309S|CHST8_uc002nuu.3_Missense_Mutation_p.P309S NM_001127895 NP_071912 Q9H2A9 CHST8_HUMAN Homo sapiens carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8 (CHST8), transcript variant 2, mRNA. 309 carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi membrane|integral to membrane N-acetylgalactosamine 4-O-sulfotransferase activity NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5) 27 Esophageal squamous(110;0.162) GGTGCGTTTTCCCGAGTTCGT 0.652000 43 12 0 0 1 0 0 GPR111 222611 broad.mit.edu 37 6 47649532 47649532 + Nonsense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr6:47649532C>T uc010jzj.1 + 5 1238 c.1237C>T c.(1237-1239)Caa>Taa p.Q413* GPR111_uc003oyy.3_Nonsense_Mutation_p.Q345* NM_153839 NP_722581 Q8IZF7 GP111_HUMAN Homo sapiens G protein-coupled receptor 111 (GPR111), mRNA. 413 GPS. neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 CAAAATGATTCAAGAAAACTC 0.443000 97 36 0 0 1 0 0 DMD 1756 broad.mit.edu 37 X 31366706 31366707 + Missense_Mutation DNP CC TT TT TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chrX:31366706_31366707CC>TT uc004dda.1 - 60 9373_9374 c.9129_9130GG>AA c.(9127-9132)agggac>agAAac p.D3044N DMD_uc004dcq.1_Missense_Mutation_p.D315N|DMD_uc004dcr.1_Missense_Mutation_p.D584N|DMD_uc004dcs.1_Missense_Mutation_p.D584N|DMD_uc004dct.1_Missense_Mutation_p.D584N|DMD_uc004dcu.1_Missense_Mutation_p.D584N|DMD_uc004dcv.1_Missense_Mutation_p.D584N|DMD_uc004dcw.2_Missense_Mutation_p.D1700N|DMD_uc004dcx.2_Missense_Mutation_p.D1703N|DMD_uc004dcz.2_Missense_Mutation_p.D2921N|DMD_uc004dcy.1_Missense_Mutation_p.D3040N|DMD_uc004ddb.1_Missense_Mutation_p.D3036N NM_004006 NP_004001 P11532 DMD_HUMAN Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA. 3044 muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding p.R3039>?(1)|p.R583>?(1)|p.R3038>?(1) NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) GGACCAAAGTCCCTGTGGGCTT 0.411000 17 11 0 0 1 0 0 HSPH1 10808 broad.mit.edu 37 13 31711578 31711578 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr13:31711578G>A uc001utl.3 - 17 2731 c.2460C>T c.(2458-2460)ggC>ggT p.G820G HSPH1_uc001utj.3_Silent_p.G818G|HSPH1_uc001utk.3_Silent_p.G774G|HSPH1_uc010aaw.3_Silent_p.G777G|HSPH1_uc010tds.2_Silent_p.G742G NM_006644 NP_006635 Q92598 HS105_HUMAN Homo sapiens heat shock 105kDa/110kDa protein 1 (HSPH1), mRNA. 818 positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein cytoplasm|extracellular region ATP binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 27 Lung SC(185;0.0257) all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125) CAATATTTGGGCCATTTGGAG 0.348000 34 25 0 0 1 0 0 FASN 2194 broad.mit.edu 37 17 80038708 80038709 + Missense_Mutation DNP GG AA AA TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr17:80038708_80038709GG>AA uc002kdu.3 - 38 6802_6803 c.6685_6686CC>TT c.(6685-6687)ccc>TTc p.P2229F FASN_uc002kdv.1_Non-coding_Transcript NM_004104 NP_004095 P49327 FAS_HUMAN Homo sapiens fatty acid synthase (FASN), mRNA. 2229 Thioesterase (By similarity). energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process Golgi apparatus|cytosol|melanosome|plasma membrane 3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1) 34 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237) Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339) CATCAGGGTGGGGCCCTCCGGG 0.663000 16 5 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140188662 140188662 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr5:140188662G>A uc003lhi.2 + 0 1991 c.1890G>A c.(1888-1890)gaG>gaA p.E630E PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Silent_p.E630E|PCDHAC2_uc011daa.2_Silent_p.E630E NM_018907 NP_061730 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA. 641 Cadherin 6. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding p.D629N(1) NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACACTGGCGAGATCAGCACAA 0.682000 99 38 0 0 1 0 0 CKAP4 10970 broad.mit.edu 37 12 106633540 106633540 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr12:106633540G>A uc001tlk.3 - 1 1155 c.1071C>T c.(1069-1071)ctC>ctT p.L357L NM_006825 NP_006816 Q07065 CKAP4_HUMAN Homo sapiens cytoskeleton-associated protein 4 (CKAP4), mRNA. 357 ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1) 20 CCTCAGACCTGAGAAGCTTCT 0.667000 45 24 0 0 1 0 0 C16orf71 146562 broad.mit.edu 37 16 4790283 4790283 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr16:4790283C>T uc002cxn.3 + 3 868 c.406C>T c.(406-408)Ctt>Ttt p.L136F NM_139170 NP_631909 Q8IYS4 CP071_HUMAN Homo sapiens chromosome 16 open reading frame 71 (C16orf71), mRNA. 136 breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1) 11 GGTCAGCGCTCTTCTTGGGAT 0.582000 103 28 0 0 1 0 0 RAP1B 5908 broad.mit.edu 37 12 69050130 69050130 + Silent SNP A G G TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr12:69050130A>G uc001sub.3 + 5 609 c.369A>G c.(367-369)gaA>gaG p.E123E RAP1B_uc010ste.2_Silent_p.E57E|RAP1B_uc001suc.3_Silent_p.E123E|RAP1B_uc010stf.2_Silent_p.E104E|RAP1B_uc010stg.2_Silent_p.E81E|RAP1B_uc010sth.2_Silent_p.E81E|RAP1B_uc010sti.2_Silent_p.E76E NM_015646 NP_056461 P61224 RAP1B_HUMAN Homo sapiens RAP1B, member of RAS oncogene family (RAP1B), transcript variant 1, mRNA. 123 blood coagulation|energy reserve metabolic process|regulation of establishment of cell polarity|regulation of insulin secretion cell-cell junction|cytosol GDP binding|GTP binding|GTPase activity|protein binding breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2)|urinary_tract(2) 12 Breast(13;1.24e-05) Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694) GBM - Glioblastoma multiforme(7;0.000306) TGGAAGATGAAAGAGTTGTAG 0.308000 64 46 0 0 1 0 0 DNM3 26052 broad.mit.edu 37 1 172001595 172001595 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:172001595G>A uc001gie.3 + 4 819 c.643G>A c.(643-645)Gat>Aat p.D215N DNM3_uc001gid.4_Missense_Mutation_p.D215N|DNM3_uc009wwb.2_Missense_Mutation_p.D215N|DNM3_uc001gif.3_Missense_Mutation_p.D215N NM_015569 NP_056384 Q9UQ16 DYN3_HUMAN Homo sapiens dynamin 3 (DNM3), transcript variant 1, mRNA. 215 endocytosis|filopodium assembly|synapse assembly dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density GTP binding|GTPase activity|protein binding p.T214T(1) NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 TGAAGGAACGGATGCCAGGGA 0.373000 81 61 0 0 1 0 0 EDNRB 1910 broad.mit.edu 37 13 78475260 78475260 + Missense_Mutation SNP A G G TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr13:78475260A>G uc001vkp.1 - 4 1307 c.1154T>C c.(1153-1155)cTa>cCa p.L385P EDNRB_uc001vkq.1_Missense_Mutation_p.L295P|BC031243_uc001vkn.1_Intron|EDNRB_uc001vko.2_Missense_Mutation_p.L295P|EDNRB_uc010aez.1_Missense_Mutation_p.L295P NM_001201397 NP_001188326 P24530 EDNRB_HUMAN Homo sapiens endothelin receptor type B (EDNRB), transcript variant 4, mRNA. 295 A -> V (in Ref. 13; BAF83388). activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction integral to plasma membrane endothelin-B receptor activity|peptide hormone binding breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3) 42 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0933) Bosentan(DB00559) ACAGGTCATTAGTGTATAAAA 0.353000 38 28 0 0 1 0 0 FGG 2266 broad.mit.edu 37 4 155530818 155530818 + Missense_Mutation SNP G C C rs148688900 TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr4:155530818G>C uc003ioj.3 - 5 771 c.630C>G c.(628-630)atC>atG p.I210M FGG_uc003iog.3_Missense_Mutation_p.I210M NM_021870 NP_068656 P02679 FIBG_HUMAN Homo sapiens fibrinogen gamma chain (FGG), transcript variant gamma-B, mRNA. 210 Fibrinogen C-terminal. platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 all_hematologic(180;0.215) Renal(120;0.0458) Sucralfate(DB00364) CAGACCCATCGATTTCACAGT 0.383000 59 40 0 0 1 0 0 DTNB 1838 broad.mit.edu 37 2 25803647 25803647 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr2:25803647G>A uc002rgh.3 - 6 902 c.652C>T c.(652-654)Cct>Tct p.P218S DTNB_uc010yko.2_Missense_Mutation_p.P161S|DTNB_uc002rgi.3_Missense_Mutation_p.P218S|DTNB_uc002rgj.3_Missense_Mutation_p.P218S|DTNB_uc002rgk.3_Missense_Mutation_p.P218S|DTNB_uc002rgl.3_Missense_Mutation_p.P218S|DTNB_uc002rgq.3_Missense_Mutation_p.P218S|DTNB_uc002rgn.3_Missense_Mutation_p.P14S|DTNB_uc010ykp.2_Missense_Mutation_p.P14S|DTNB_uc002rgr.1_Missense_Mutation_p.P207S|DTNB_uc010ykq.1_Missense_Mutation_p.P71S NM_021907 NP_068707 O60941 DTNB_HUMAN Homo sapiens dystrobrevin, beta (DTNB), transcript variant 1, mRNA. 218 cytoplasm calcium ion binding|zinc ion binding endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 11 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CACTGGGGAGGAGGGTCAGCC 0.388000 28 21 0 0 1 0 0 SHISA4 149345 broad.mit.edu 37 1 201858678 201858678 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:201858678G>A uc001gxa.3 + 1 497 c.179G>A c.(178-180)cGg>cAg p.R60Q SHISA4_uc021phk.1_Non-coding_Transcript NM_198149 NP_937792 Q96DD7 SHSA4_HUMAN Homo sapiens shisa homolog 4 (Xenopus laevis) (SHISA4), transcript variant 1, mRNA. 60 integral to membrane kidney(1)|lung(4) 5 TGCTACCATCGGTACTGCTGC 0.617000 111 37 0 0 1 0 0 GRM8 2918 broad.mit.edu 37 7 126086198 126086198 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr7:126086198C>T uc003vlr.2 - 8 2970 c.2659G>A c.(2659-2661)Gag>Aag p.E887K GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.E887K|GRM8_uc010lkz.1_Non-coding_Transcript NM_000845 NP_000836 O00222 GRM8_HUMAN Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA. 887 negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4) 125 Prostate(267;0.186) L-Glutamic Acid(DB00142) TCAAGACTCTCACAGAGTTCA 0.458000 HNSCC(24;0.065) 83 48 0 0 1 0 0 ADRBK1 156 broad.mit.edu 37 11 67049760 67049760 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr11:67049760G>A uc009yrn.1 + 11 1242 c.976G>A c.(976-978)Gac>Aac p.D326N NM_001619 NP_001610 P25098 ARBK1_HUMAN Homo sapiens adrenergic, beta, receptor kinase 1 (ADRBK1), mRNA. 326 Protein kinase. activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway cytosol|soluble fraction ATP binding|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|alpha-2A adrenergic receptor binding|beta-adrenergic receptor kinase activity|signal transducer activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2) 22 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) Adenosine triphosphate(DB00171) CATCCTTCTGGACGAGCATGG 0.642000 24 82 0 0 1 0 0 CAPNS2 84290 broad.mit.edu 37 16 55600715 55600715 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr16:55600715G>A uc002eid.1 + 0 132 c.47G>A c.(46-48)gGa>gAa p.G16E LPCAT2_uc002eie.4_Intron|LPCAT2_uc002eic.3_Intron NM_032330 NP_115706 Q96L46 CPNS2_HUMAN Homo sapiens calpain, small subunit 2 (CAPNS2), mRNA. 16 Gly-rich. cytoplasm|plasma membrane calcium ion binding central_nervous_system(1)|large_intestine(1)|lung(3)|prostate(2) 7 CGAGGTCTTGGAGAAGCTCTT 0.433000 31 7 0 0 1 0 0 WDR35 57539 broad.mit.edu 37 2 20166597 20166597 + Nonsense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr2:20166597C>T uc002rdi.3 - 9 1190 c.1082G>A c.(1081-1083)tGg>tAg p.W361* WDR35_uc002rdj.3_Nonsense_Mutation_p.W361*|WDR35_uc010ext.3_Non-coding_Transcript|WDR35_uc002rdh.3_5'UTR NM_001006657 NP_001006658 Q9P2L0 WDR35_HUMAN Homo sapiens WD repeat domain 35 (WDR35), transcript variant 1, mRNA. 361 breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TTTCGTATCCCAGAAGACAAC 0.378000 27 13 0 0 1 0 0 TMEM132E 124842 broad.mit.edu 37 17 32953333 32953333 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr17:32953333G>A uc002hif.3 + 1 583 c.255G>A c.(253-255)aaG>aaA p.K85K NM_207313 NP_997196 Q6IEE7 T132E_HUMAN Homo sapiens transmembrane protein 132E (TMEM132E), mRNA. 85 integral to membrane breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 57 BRCA - Breast invasive adenocarcinoma(366;0.231) TCCAGACCAAGGAGCTGCCGG 0.706000 12 16 0 0 1 0 0 FHOD1 29109 broad.mit.edu 37 16 67268019 67268019 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr16:67268019G>A uc002esl.3 - 12 1699 c.1587C>T c.(1585-1587)atC>atT p.I529I FHOD1_uc010ced.3_Silent_p.I336I|FHOD1_uc010vjh.1_Silent_p.I189I NM_013241 NP_037373 Q9Y613 FHOD1_HUMAN Homo sapiens formin homology 2 domain containing 1 (FHOD1), mRNA. 529 FH1. actin cytoskeleton organization cytoplasm|cytoskeleton|nucleus actin binding p.I529F(1) breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 34 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434) GGAGCTCCCAGATGGGCTCAG 0.612000 63 77 0 0 1 0 0 USP29 57663 broad.mit.edu 37 19 57641622 57641622 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr19:57641622G>A uc002qny.3 + 3 1935 c.1579G>A c.(1579-1581)Gag>Aag p.E527K USP29_uc021vci.1_Missense_Mutation_p.E527K NM_020903 NP_065954 Q9HBJ7 UBP29_HUMAN Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA. 527 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) GAAGAATAACGAGCAAGTTTA 0.408000 108 36 0 0 1 0 0 PRKCZ 5590 broad.mit.edu 37 1 2105451 2105451 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:2105451C>T uc001aiq.3 + 13 1562 c.1401C>T c.(1399-1401)ttC>ttT p.F467F PRKCZ_uc001air.3_Silent_p.F284F|PRKCZ_uc010nyw.2_Silent_p.F363F|PRKCZ_uc001ais.3_Silent_p.F284F|PRKCZ_uc010nyx.2_Non-coding_Transcript|PRKCZ_uc001ait.3_Silent_p.F315F NM_002744 NP_001028754 Q05513 KPCZ_HUMAN Homo sapiens protein kinase C, zeta (PRKCZ), transcript variant 1, mRNA. 467 Protein kinase. anti-apoptosis|intracellular signal transduction|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein complex assembly|peptidyl-serine phosphorylation|platelet activation endosome ATP binding|protein kinase C activity|zinc ion binding breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(5)|lung(5)|stomach(1) 18 all_cancers(77;0.000177)|all_epithelial(69;6.41e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;2.96e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.3e-23)|GBM - Glioblastoma multiforme(42;2.85e-08)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00294)|BRCA - Breast invasive adenocarcinoma(365;0.00493)|STAD - Stomach adenocarcinoma(132;0.00669)|KIRC - Kidney renal clear cell carcinoma(229;0.0411)|Lung(427;0.213) ACTACCTTTTCCAAGGTGCGT 0.612000 OREG0013007 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 25 29 0 0 1 0 0 MS4A12 54860 broad.mit.edu 37 11 60268557 60268557 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr11:60268557G>A uc001npr.3 + 2 373 c.316G>A c.(316-318)Gga>Aga p.G106R MS4A12_uc021qkb.1_Intron NM_017716 NP_060186 Q9NXJ0 M4A12_HUMAN Homo sapiens membrane-spanning 4-domains, subfamily A, member 12 (MS4A12), transcript variant 1, mRNA. 106 integral to membrane receptor activity breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2) 17 CATTGGTTTTGGAATTGTTTT 0.373000 44 84 0 0 1 0 0 MAGT1 84061 broad.mit.edu 37 X 77112976 77112976 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chrX:77112976G>A uc004fof.3 - 3 567 c.505C>T c.(505-507)Cca>Tca p.P169S MAGT1_uc004fog.4_Non-coding_Transcript NM_032121 NP_115497 Q9H0U3 MAGT1_HUMAN Homo sapiens magnesium transporter 1 (MAGT1), mRNA. 137 protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex p.R168L(1) cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1) 17 ATGAAAGTTGGAGCTGAATTC 0.383000 15 65 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228563450 228563450 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:228563450G>A uc009xez.1 + 97 22755 c.22711G>A c.(22711-22713)Gat>Aat p.D7571N OBSCN_uc001hsr.1_Missense_Mutation_p.D2200N NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA. 7571 Fibronectin type-III 4. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction M band|Z disc|cytosol ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GGTGTACGCGGATGGGGTGCT 0.627000 18 36 0 0 1 0 0 TP53TG5 27296 broad.mit.edu 37 20 44003840 44003840 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr20:44003840C>T uc002xny.3 - 3 688 c.607G>A c.(607-609)Gat>Aat p.D203N SYS1_uc002xnw.2_3'UTR|DBNDD2_uc002xnx.3_Intron NM_014477 NP_055292 Q9Y2B4 T53G5_HUMAN Homo sapiens TP53 target 5 (TP53TG5), mRNA. 203 intracellular signal transduction|negative regulation of cell growth cytoplasm|nucleus central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|upper_aerodigestive_tract(1) 12 TCGGCTACATCCAGCTGCTTC 0.612000 60 38 0 0 1 0 0 ALK 238 broad.mit.edu 37 2 29519814 29519814 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr2:29519814G>A uc002rmy.3 - 8 2709 c.1757C>T c.(1756-1758)gCc>gTc p.A586V NM_004304 NP_004295 Q9UM73 ALK_HUMAN Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA. 586 MAM 2. protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity p.A585T(1)|p.A585A(1) ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9) NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2) 340 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) GCCTTCATAGGCGGCGACATG 0.552000 """T, Mis, A""" """NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22""" """ALCL, NSCLC, Neuroblastoma""" neuroblastoma Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 39 14 0 0 1 0 0 FN3KRP 79672 broad.mit.edu 37 17 80685001 80685001 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr17:80685001G>A uc002kfu.3 + 5 934 c.884G>A c.(883-885)gGg>gAg p.G295E FN3KRP_uc010wvr.2_Missense_Mutation_p.G245E NM_024619 NP_078895 Q9HA64 KT3K_HUMAN Homo sapiens fructosamine 3 kinase related protein (FN3KRP), mRNA. 295 kinase activity breast(1)|large_intestine(2)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 7 Breast(20;0.000523)|all_neural(118;0.0952) BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061) TTTGGATCGGGGTACAGAGGA 0.527000 77 29 0 0 1 0 0 FLJ43315 644316 broad.mit.edu 37 GL000211.1 107511 107511 + RNA SNP A T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chrGL000211.1:107511A>T uc003boa.3 + 4 c.1051A>T Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA. AATGCAAATTATTTTGAAATA 0.279000 13 3 0 0 1 0 0 MGAT3 4248 broad.mit.edu 37 22 39883739 39883739 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr22:39883739C>T uc003axv.4 + 1 626 c.387C>T c.(385-387)ccC>ccT p.P129P MGAT3_uc010gxy.3_Silent_p.P129P NM_002409 NP_002400 Q09327 MGAT3_HUMAN Homo sapiens mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase (MGAT3), transcript variant 1, mRNA. 129 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1) 24 Melanoma(58;0.04) AGAGGCCGCCCCCGGGACGGC 0.726000 11 5 0 0 1 0 0 CACNG3 10368 broad.mit.edu 37 16 24358116 24358116 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr16:24358116G>A uc002dmf.3 + 1 1475 c.273G>A c.(271-273)caG>caA p.Q91Q NM_006539 NP_006530 O60359 CCG3_HUMAN Homo sapiens calcium channel, voltage-dependent, gamma subunit 3 (CACNG3), mRNA. 91 regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex voltage-gated calcium channel activity p.Q91Q(2) NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2) 40 GBM - Glioblastoma multiforme(48;0.0809) ACTACGAACAGGACACAGCCG 0.567000 35 30 0 0 1 0 0 IFT172 26160 broad.mit.edu 37 2 27672393 27672393 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr2:27672393G>A uc002rku.3 - 37 4248 c.4197C>T c.(4195-4197)ttC>ttT p.F1399F IFT172_uc010ezb.3_Non-coding_Transcript NM_015662 NP_056477 Q9UG01 IF172_HUMAN Homo sapiens intraflagellar transport 172 homolog (Chlamydomonas) (IFT172), mRNA. 1399 cilium assembly cilium binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 43 Acute lymphoblastic leukemia(172;0.155) GATTCTTGAGGAACTCTTTAT 0.478000 73 27 0 0 1 0 0 LEPR 3953 broad.mit.edu 37 1 66074537 66074538 + Missense_Mutation DNP CA AT AT TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:66074537_66074538CA>AT uc001dci.3 + 11 2094_2095 c.1705_1706CA>AT c.(1705-1707)caa>ATa p.Q569I LEPR_uc001dcg.3_Missense_Mutation_p.Q569I|LEPR_uc001dch.3_Missense_Mutation_p.Q569I|LEPR_uc009waq.3_Intron|LEPR_uc021ool.1_Missense_Mutation_p.Q569I|LEPR_uc001dcj.3_Missense_Mutation_p.Q569I|LEPR_uc001dck.3_Missense_Mutation_p.Q569I NM_002303 NP_002294 P48357 LEPR_HUMAN Homo sapiens leptin receptor (LEPR), transcript variant 1, mRNA. 569 Fibronectin type-III 2. 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) GAATAACCTTCAATTCCAGATT 0.347000 44 14 0 0 1 0 0 LRRC37A11P 342666 broad.mit.edu 37 17 37187974 37187974 + RNA SNP G C C TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr17:37187974G>C uc002hrd.1 + 0 c.1816G>C Homo sapiens FLJ43826 protein (FLJ43826), non-coding RNA. AGCTACGTAAGGAGGTTGTAG 0.493000 30 8 0 0 1 0 0 RABEP1 9135 broad.mit.edu 37 17 5238487 5238487 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr17:5238487C>T uc002gbm.4 + 3 600 c.376C>T c.(376-378)Cgt>Tgt p.R126C RABEP1_uc010clc.1_Missense_Mutation_p.R126C|RABEP1_uc010cld.1_Missense_Mutation_p.R83C|RABEP1_uc010vsw.1_Missense_Mutation_p.R83C|RABEP1_uc002gbl.4_Missense_Mutation_p.R126C|RABEP1_uc002gbj.3_Missense_Mutation_p.R126C|RABEP1_uc002gbk.2_Missense_Mutation_p.R126C NM_004703 NP_004694 Q15276 RABE1_HUMAN Homo sapiens rabaptin, RAB GTPase binding effector protein 1 (RABEP1), transcript variant 1, mRNA. 126 apoptosis|cellular membrane fusion|endocytosis|protein transport centrosome|early endosome|endocytic vesicle|recycling endosome GTPase activator activity|growth factor activity|protein homodimerization activity p.R126C(2) NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 8 AGAAACAGTTCGTGACTATGA 0.378000 43 23 0 0 1 0 0 TTF2 8458 broad.mit.edu 37 1 117635456 117635457 + Missense_Mutation DNP CC TT TT TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:117635456_117635457CC>TT uc001egy.3 + 17 2929_2930 c.2909_2910CC>TT c.(2908-2910)tcc>tTT p.S970F MIR942_uc021osm.1_5'Flank NM_003594 NP_003585 Q9UNY4 TTF2_HUMAN Homo sapiens transcription termination factor, RNA polymerase II (TTF2), mRNA. 970 RNA splicing|mRNA processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription cytoplasm|spliceosomal complex|transcription elongation factor complex ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2) 50 Lung SC(450;0.225) all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05) Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19) GAGCCATCTTCCACTGTTTCCC 0.490000 66 22 0 0 1 0 0 RPL13AP3 645683 broad.mit.edu 37 14 56233097 56233097 + RNA SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr14:56233097G>A uc010aos.3 + 0 c.135G>A Homo sapiens ribosomal protein L13a pseudogene 3 (RPL13AP3), non-coding RNA. AACCCTTTTCGAAGCGCCTAC 0.572000 15 9 0 0 1 0 0 OR5T3 390154 broad.mit.edu 37 11 56020545 56020545 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr11:56020545G>A uc010rjd.2 + 0 870 c.870G>A c.(868-870)atG>atA p.M290I NM_001004747 NP_001004747 Q8NGG3 OR5T3_HUMAN Homo sapiens olfactory receptor, family 5, subfamily T, member 3 (OR5T3), mRNA. 290 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.M290I(2) breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 39 Esophageal squamous(21;0.00448) TCAGTTATATGAGACCAAGTT 0.403000 61 33 0 0 1 0 0 LIFR 3977 broad.mit.edu 37 5 38502880 38502880 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr5:38502880C>T uc010ive.1 - 10 1791 c.1459G>A c.(1459-1461)Gta>Ata p.V487I LIFR_uc003jli.2_Missense_Mutation_p.V487I NM_001127671 NP_002301 P42702 LIFR_HUMAN Homo sapiens leukemia inhibitory factor receptor alpha (LIFR), transcript variant 1, mRNA. 487 Fibronectin type-III 3. positive regulation of cell proliferation extracellular region|integral to plasma membrane ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2) 78 all_lung(31;0.00021) GAATTTTCTACTCCTTTGATT 0.289000 T PLAG1 salivary adenoma 8 6 0 0 1 0 0 MAEA 10296 broad.mit.edu 37 4 1332303 1332303 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr4:1332303C>T uc003gda.3 + 7 1023 c.993C>T c.(991-993)gcC>gcT p.A331A MAEA_uc003gdd.3_Non-coding_Transcript|MAEA_uc003gdb.3_Silent_p.A290A|MAEA_uc011bvb.2_Silent_p.A263A|MAEA_uc003gdc.3_Silent_p.A263A|MAEA_uc011bvc.2_Silent_p.A330A|MAEA_uc011bvd.2_Silent_p.A283A|MAEA_uc010ibt.3_Silent_p.A104A NM_001017405 NP_001017405 Q7L5Y9 MAEA_HUMAN Homo sapiens macrophage erythroblast attacher (MAEA), transcript variant 1, mRNA. 331 cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle actin binding NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(23;0.0201) TGCCCATGGCCCACTGTGCCA 0.612000 48 29 0 0 1 0 0 DOCK3 1795 broad.mit.edu 37 3 51196695 51196695 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr3:51196695G>A uc011bds.2 + 10 872 c.849G>A c.(847-849)atG>atA p.M283I NM_004947 NP_004938 Q8IZD9 DOCK3_HUMAN Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA. 283 cytoplasm GTP binding|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) GCAAAGATATGAAGAGAGATT 0.353000 29 9 0 0 1 0 0 TRIM28 10155 broad.mit.edu 37 19 59058766 59058766 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr19:59058766G>A uc002qtg.1 + 3 899 c.610G>A c.(610-612)Gaa>Aaa p.E204K TRIM28_uc010eut.1_Missense_Mutation_p.E122K|TRIM28_uc002qth.1_5'Flank NM_005762 NP_005753 Q13263 TIF1B_HUMAN Homo sapiens tripartite motif containing 28 (TRIM28), mRNA. 204 RBCC domain. epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent nucleoplasm chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1) 19 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179) TCGGGATGGTGAACGTACTGT 0.552000 12 25 0 0 1 0 0 SUPT6H 6830 broad.mit.edu 37 17 27008961 27008961 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr17:27008961C>T uc010crt.3 + 13 1752 c.1560C>T c.(1558-1560)cgC>cgT p.R520R SUPT6H_uc002hby.3_Silent_p.R520R NM_003170 NP_003161 Q7KZ85 SPT6H_HUMAN Homo sapiens suppressor of Ty 6 homolog (S. cerevisiae) (SUPT6H), mRNA. 520 chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter nucleus RNA binding|hydrolase activity, acting on ester bonds|sequence-specific DNA binding transcription factor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 Lung NSC(42;0.00431) AAGCCTCTCGCCGAGACATGT 0.522000 8 12 0 0 1 0 0 ETAA1 54465 broad.mit.edu 37 2 67631260 67631260 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr2:67631260G>A uc002sdz.1 + 4 1585 c.1446G>A c.(1444-1446)gaG>gaA p.E482E NM_019002 NP_061875 Q9NY74 ETAA1_HUMAN Homo sapiens Ewing tumor-associated antigen 1 (ETAA1), mRNA. 482 cytoplasm|nucleus autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1) 33 TGAAATTTGAGAACTCTTCCA 0.259000 12 3 0 0 1 0 0 KLHL9 55958 broad.mit.edu 37 9 21334623 21334623 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr9:21334623G>A uc003zoy.3 - 0 807 c.236C>T c.(235-237)gCc>gTc p.A79V KLHL9_uc003zow.3_Intron|KLHL9_uc003zox.3_Non-coding_Transcript NM_018847 NP_061335 Q9P2J3 KLHL9_HUMAN Homo sapiens kelch-like 9 (Drosophila) (KLHL9), mRNA. 79 BTB. cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex|midbody endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2) 32 Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118) TGTGAACATGGCTTTGAAATA 0.403000 62 35 0 0 1 0 0 LARS 51520 broad.mit.edu 37 5 145543883 145543883 + Missense_Mutation SNP A T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr5:145543883A>T uc003lnx.1 - 5 822 c.584T>A c.(583-585)aTg>aAg p.M195K LARS_uc011dbq.1_Missense_Mutation_p.M149K|LARS_uc011dbr.1_Missense_Mutation_p.M141K|LARS_uc011dbs.1_Missense_Mutation_p.M168K NM_020117 NP_064502 Q9P2J5 SYLC_HUMAN Homo sapiens leucyl-tRNA synthetase (LARS), mRNA. 195 leucyl-tRNA aminoacylation cytosol ATP binding|leucine-tRNA ligase activity|protein binding breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8) 34 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) L-Leucine(DB00149) CTTCAAACCCATTCTTTTTAA 0.358000 58 22 0 0 1 0 0 EPHA8 2046 broad.mit.edu 37 1 22923920 22923920 + Silent SNP T C C TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:22923920T>C uc001bfx.1 + 9 2006 c.1881T>C c.(1879-1881)acT>acC p.T627T NM_020526 NP_065387 P29322 EPHA8_HUMAN Homo sapiens EPH receptor A8 (EPHA8), transcript variant 1, mRNA. 627 integral to plasma membrane ATP binding|ephrin receptor activity breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 61 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) GCAGTTTCACTCGGGAGATCG 0.647000 82 116 0 0 1 0 0 IL1RL1 9173 broad.mit.edu 37 2 102955425 102955425 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr2:102955425C>T uc002tbu.1 + 2 461 c.190C>T c.(190-192)Cgt>Tgt p.R64C IL1RL1_uc010ywa.2_Intron|IL18R1_uc002tbw.4_Intron|IL1RL1_uc002tbv.3_Missense_Mutation_p.R64C NM_016232 NP_057316 Q01638 ILRL1_HUMAN Homo sapiens interleukin 1 receptor-like 1 (IL1RL1), transcript variant 1, mRNA. 64 Ig-like C2-type 1. innate immune response integral to membrane interleukin-1 receptor activity|receptor signaling protein activity p.R64C(3) NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1) 16 GGAAAGAAATCGTGTGTTTGC 0.408000 119 37 0 0 1 0 0 DNAH1 25981 broad.mit.edu 37 3 52417987 52417987 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr3:52417987C>T uc011bef.2 + 51 8523 c.8262C>T c.(8260-8262)gcC>gcT p.A2754A DNAH1_uc003ddv.3_5'Flank NM_015512 NP_056327 Q9P2D7 DYH1_HUMAN Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA. 2754 AAA 4 (By similarity). ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1) 62 BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) AGTCTGTGGCCACCGTGTTCC 0.567000 12 5 0 0 1 0 0 AVPR1A 552 broad.mit.edu 37 12 63541189 63541189 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr12:63541189C>T uc001sro.1 - 1 3181 c.1207G>A c.(1207-1209)Gac>Aac p.D403N NM_000706 NP_000697 P37288 V1AR_HUMAN Homo sapiens arginine vasopressin receptor 1A (AVPR1A), mRNA. 403 activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy endosome|integral to plasma membrane protein kinase C binding|vasopressin receptor activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1) 26 BRCA - Breast invasive adenocarcinoma(9;0.193) GBM - Glioblastoma multiforme(28;0.0569) Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067) TTAGGCGAGTCCTTCCACATA 0.383000 96 74 0 0 1 0 0 SPAG8 26206 broad.mit.edu 37 9 35810444 35810444 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr9:35810444G>A uc003zye.3 - 4 1307 c.1192C>T c.(1192-1194)Cca>Tca p.P398S SPAG8_uc003zyg.3_Missense_Mutation_p.P398S NM_172312 NP_758516 Q99932 SPAG8_HUMAN Homo sapiens sperm associated antigen 8 (SPAG8), transcript variant 2, mRNA. 398 acrosomal vesicle|membrane NS(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 all_epithelial(49;0.161) LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194) ACCTTTGTTGGGGCAGGAGTC 0.597000 38 16 0 0 1 0 0 SEC63 11231 broad.mit.edu 37 6 108250629 108250629 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr6:108250629G>A uc003psc.4 - 1 483 c.214C>T c.(214-216)Cct>Tct p.P72S NM_007214 NP_009145 Q9UGP8 SEC63_HUMAN Homo sapiens SEC63 homolog (S. cerevisiae) (SEC63), mRNA. 72 protein folding|protein targeting to membrane endoplasmic reticulum membrane|integral to membrane heat shock protein binding|receptor activity|unfolded protein binding endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294) BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054) TTTACTGTAGGAATAATATTT 0.313000 21 20 0 0 1 0 0 UHRF1 29128 broad.mit.edu 37 19 4929251 4929251 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr19:4929251C>T uc002mbp.3 + 1 503 c.210C>T c.(208-210)acC>acT p.T70T UHRF1_uc002mbo.3_Silent_p.T57T|UHRF1_uc010xik.2_Intron|UHRF1_uc010duf.3_Non-coding_Transcript NM_013282 NP_037414 Q96T88 UHRF1_HUMAN Homo sapiens ubiquitin-like with PHD and ring finger domains 1 (UHRF1), transcript variant 2, mRNA. 57 Ubiquitin-like. DNA repair|cell cycle|cell proliferation|regulation of transcription from RNA polymerase II promoter nucleus acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2) 16 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276) ACGGCCATACCCTCTTCGACT 0.602000 80 43 0 0 1 0 0 ARRDC5 645432 broad.mit.edu 37 19 4891231 4891231 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr19:4891231C>T uc002mbm.3 - 2 856 c.856G>A c.(856-858)Ggt>Agt p.G286S NM_001080523 NP_001073992 A6NEK1 ARRD5_HUMAN Homo sapiens arrestin domain containing 5 (ARRDC5), mRNA. 286 signal transduction p.D285D(1) endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 12 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257) ATGATCTCACCGTCCTGCGTG 0.617000 135 88 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 20999068 20999068 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr16:20999068C>T uc010vbe.2 - 45 6829 c.6829G>A c.(6829-6831)Gac>Aac p.D2277N DNAH3_uc010vbd.2_5'Flank NM_017539 NP_060009 Q8TD57 DYH3_HUMAN Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA. 2277 AAA 3 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) CGTGAGAAGTCCCGCAGGTTA 0.478000 52 14 0 0 1 0 0 TAS2R30 259293 broad.mit.edu 37 12 11286736 11286736 + Silent SNP G A A rs112605675 TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr12:11286736G>A uc009zhs.1 - 0 108 c.108C>T c.(106-108)gtC>gtT p.V36V PRH1_uc001qzb.4_Intron|TAS2R14_uc021qve.1_Intron|PRH1_uc021qvg.1_Intron|PRB4_uc001qzf.1_Intron|TAS2R14_uc001qzj.3_Intron NM_001097643 NP_001091112 Homo sapiens taste receptor, type 2, member 30 (TAS2R30), mRNA. p.V36V(2) autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1) 13 TTTGTCTCTTGACCCACTCAA 0.388000 47 44 0 0 1 0 0 AK098438 0 broad.mit.edu 37 1 21750978 21750978 + RNA SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:21750978G>A uc001bep.1 - 4 c.680C>T Homo sapiens cDNA FLJ25572 fis, clone JTH05111. CATGGTCTGAGAATAGGAATA 0.502000 19 5 0 0 1 0 0 CLIC6 54102 broad.mit.edu 37 21 36079590 36079590 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr21:36079590G>A uc010gmt.1 + 2 1441 c.1441G>A c.(1441-1443)Ggt>Agt p.G481S CLIC6_uc002yuf.1_Missense_Mutation_p.G463S NM_053277 NP_444507 Q96NY7 CLIC6_HUMAN Homo sapiens chloride intracellular channel 6 (CLIC6), nuclear gene encoding mitochondrial protein, mRNA. 481 chloride channel complex|cytoplasm|plasma membrane voltage-gated chloride channel activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 19 TGGTTATGATGGTGAGAGTAT 0.428000 33 32 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9062982 9062982 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr19:9062982C>T uc002mkp.3 - 2 24668 c.24464G>A c.(24463-24465)aGg>aAg p.R8155K NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 8157 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GACTTCTGTCCTGGAGACTTC 0.547000 56 51 0 0 1 0 0 KCNMB2 10242 broad.mit.edu 37 3 178560683 178560683 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr3:178560683C>T uc003fjd.3 + 4 1009 c.666C>T c.(664-666)taC>taT p.Y222Y AF279780_uc003fjb.1_Intron|AF279780_uc003fjc.1_Intron|KCNMB2_uc003fje.3_Silent_p.Y222Y|KCNMB2_uc003fjf.3_Silent_p.Y222Y|KCNMB2_uc011bqa.2_Intron|KCNMB2_uc011bqb.2_Non-coding_Transcript NM_181361 NP_852006 Q9Y691 KCMB2_HUMAN Homo sapiens potassium large conductance calcium-activated channel, subfamily M, beta member 2 (KCNMB2), transcript variant 1, mRNA. 222 detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of vasoconstriction voltage-gated potassium channel complex calcium-activated potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity p.Q221Q(1) NS(2)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 12 all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125) OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841) TTACACAGTACCTCTCCCTAC 0.398000 20 6 0 0 1 0 0 SAMD7 344658 broad.mit.edu 37 3 169642870 169642870 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr3:169642870C>T uc003fgd.3 + 4 503 c.236C>T c.(235-237)tCc>tTc p.S79F SAMD7_uc003fge.3_Missense_Mutation_p.S79F|SAMD7_uc011bpo.2_5'UTR NM_182610 NP_872416 Q7Z3H4 SAMD7_HUMAN Homo sapiens sterile alpha motif domain containing 7 (SAMD7), mRNA. 79 NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 31 all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106) CCACCTGAATCCATAAAGGCA 0.343000 24 7 0 0 1 0 0 MIR873 100126316 broad.mit.edu 37 9 28888901 28888901 + RNA SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr9:28888901C>T uc022bfe.1 - 0 c.53G>A Homo sapiens microRNA 873 (MIR873), microRNA. GGGAACTCATCAGTCTCCTGT 0.423000 6 6 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105420580 105420580 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr14:105420580C>T uc010axc.1 - 6 1328 c.1208G>A c.(1207-1209)aGa>aAa p.R403K AHNAK2_uc021seo.1_5'Flank|AHNAK2_uc001ypx.2_Missense_Mutation_p.R303K NM_138420 NP_612429 Q8IVF2 AHNK2_HUMAN Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA. 403 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) CTCGCAAAGTCTAGGGTCACC 0.632000 53 56 0 0 1 0 0 B3GALNT1 8706 broad.mit.edu 37 3 160803733 160803733 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr3:160803733G>A uc003fdv.3 - 4 1229 c.810C>T c.(808-810)gtC>gtT p.V270V B3GALNT1_uc003fdw.3_Silent_p.V270V|B3GALNT1_uc003fdx.3_Silent_p.V270V|B3GALNT1_uc003fdy.3_Silent_p.V270V|B3GALNT1_uc003fdz.3_Silent_p.V270V|B3GALNT1_uc003fea.3_Silent_p.V270V|B3GALNT1_uc011bpa.2_Intron|B3GALNT1_uc021xgw.1_Silent_p.V270V NM_033169 NP_149359 O75752 B3GL1_HUMAN Homo sapiens beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group) (B3GALNT1), transcript variant 4, mRNA. 270 protein glycosylation Golgi membrane|integral to membrane UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity|galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity breast(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 13 LUSC - Lung squamous cell carcinoma(72;4.41e-05)|Lung(72;4.61e-05) AACAGATCCCGACATAAACAT 0.363000 22 10 0 0 1 0 0 ERI1 90459 broad.mit.edu 37 8 8869061 8869061 + Silent SNP G A A rs143206990 byFrequency TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr8:8869061G>A uc003wsk.2 + 2 557 c.297G>A c.(295-297)aaG>aaA p.K99K NM_153332 NP_699163 Q8IV48 ERI1_HUMAN Homo sapiens exoribonuclease 1 (ERI1), mRNA. 99 SAP. gene silencing by RNA|rRNA 3'-end processing cytoplasm|histone pre-mRNA 3'end processing complex|nucleolus 3'-5' exonuclease activity|histone pre-mRNA stem-loop binding|metal ion binding|rRNA binding|ribosome binding NS(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1) 11 Adenosine monophosphate(DB00131) GAGGAGTAAAGGATGTTCTAA 0.368000 16 6 0 0 1 0 0 ULK2 9706 broad.mit.edu 37 17 19687173 19687173 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr17:19687173C>T uc002gwm.4 - 21 2806 c.2297G>A c.(2296-2298)cGc>cAc p.R766H ULK2_uc002gwn.3_Missense_Mutation_p.R766H NM_001142610 NP_055498 Q8IYT8 ULK2_HUMAN Homo sapiens unc-51-like kinase 2 (C. elegans) (ULK2), transcript variant 2, mRNA. 766 signal transduction ATP binding|protein binding|protein serine/threonine kinase activity large_intestine(1)|skin(4)|stomach(1) 6 all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186) CACGCACACGCGGCCACTCAT 0.627000 51 15 0 0 1 0 0 UGGT2 55757 broad.mit.edu 37 13 96536859 96536859 + Silent SNP T C C TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr13:96536859T>C uc001vmt.3 - 26 3284 c.3114A>G c.(3112-3114)aaA>aaG p.K1038K UGGT2_uc001vmu.1_Silent_p.K125K NM_020121 NP_064506 Q9NYU1 UGGG2_HUMAN Homo sapiens UDP-glucose glycoprotein glucosyltransferase 2 (UGGT2), mRNA. 1038 post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding ER-Golgi intermediate compartment|endoplasmic reticulum lumen UDP-glucose:glycoprotein glucosyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2) 60 TATCCAAAAATTTTGCCACTG 0.398000 38 41 0 0 1 0 0 PLEC 5339 broad.mit.edu 37 8 145006821 145006821 + Silent SNP C G G TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr8:145006821C>G uc003zaf.1 - 14 2378 c.2208G>C c.(2206-2208)ctG>ctC p.L736L PLEC_uc003zab.1_Silent_p.L599L|PLEC_uc003zac.1_Silent_p.L603L|PLEC_uc003zad.2_Silent_p.L599L|PLEC_uc003zae.1_Silent_p.L567L|PLEC_uc003zag.1_Silent_p.L577L|PLEC_uc003zah.2_Silent_p.L585L|PLEC_uc003zaj.2_Silent_p.L626L NM_201380 NP_958782 Q15149 PLEC_HUMAN Homo sapiens plectin (PLEC), transcript variant 6, mRNA. 736 Globular 1. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 TGGCGTACTGCAGGTCCAGCC 0.706000 17 11 0 0 1 0 0 C1orf186 440712 broad.mit.edu 37 1 206241550 206241550 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:206241550G>A uc001hdt.1 - 3 878 c.239C>T c.(238-240)tCt>tTt p.S80F NM_001007544 NP_001007545 Q6ZWK4 CA186_HUMAN Homo sapiens chromosome 1 open reading frame 186 (C1orf186), mRNA. 80 integral to membrane breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 9 BRCA - Breast invasive adenocarcinoma(75;0.0754) AAGGGAATCAGACATTGGGAT 0.567000 143 65 0 0 1 0 0 FSIP2 401024 broad.mit.edu 37 2 186673030 186673030 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr2:186673030G>A uc002upl.3 + 16 19264 c.19264G>A c.(19264-19266)Gaa>Aaa p.E6422K FSIP2_uc002upm.3_Intron NM_173651 NP_775922 Homo sapiens fibrous sheath interacting protein 2 (FSIP2), mRNA. NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2) 69 TAAGTCTAAGGAAAAGTCTTC 0.353000 8 18 0 0 1 0 0 TMEM51 55092 broad.mit.edu 37 1 15545933 15545933 + Silent SNP G T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:15545933G>T uc001avw.4 + 3 975 c.456G>T c.(454-456)ccG>ccT p.P152P TMEM51_uc010obk.2_Silent_p.P152P|TMEM51_uc001avz.3_3'UTR|TMEM51_uc001avy.3_Silent_p.P152P|TMEM51_uc001avx.3_Silent_p.P152P NM_001136216 NP_060492 Q9NW97 TMM51_HUMAN Homo sapiens transmembrane protein 51 (TMEM51), transcript variant 1, mRNA. 152 integral to membrane p.P152P(2) breast(1)|central_nervous_system(1)|cervix(3)|large_intestine(2)|lung(5)|prostate(2) 14 Renal(390;0.00145)|Breast(348;0.00186)|Colorectal(325;0.00215)|all_lung(284;0.00459)|Lung NSC(340;0.0104)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;2.07e-06)|COAD - Colon adenocarcinoma(227;7.14e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000175)|KIRC - Kidney renal clear cell carcinoma(229;0.00141)|STAD - Stomach adenocarcinoma(313;0.00644)|READ - Rectum adenocarcinoma(331;0.0751) AGCAGAACCCGAGGTTGAGCA 0.582000 85 23 1.50039e-11 1.526e-11 1 1 0 PSG2 5670 broad.mit.edu 37 19 43575906 43575906 + Missense_Mutation SNP G A A rs143041939 byFrequency TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr19:43575906G>A uc002ovr.3 - 3 1082 c.910C>T c.(910-912)Cgt>Tgt p.R304C PSG4_uc010xwk.1_Intron NM_031246 NP_112536 P11465 PSG2_HUMAN Homo sapiens pregnancy specific beta-1-glycoprotein 2 (PSG2), mRNA. 304 Ig-like C2-type 2. cell migration|female pregnancy extracellular region p.R304H(1) central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2) 49 Prostate(69;0.00682) GCTGAGTTACGAACAGAGCAA 0.458000 130 128 0 0 1 0 0 SBNO1 55206 broad.mit.edu 37 12 123798214 123798214 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr12:123798214G>A uc010tap.2 - 22 3173 c.3173C>T c.(3172-3174)tCt>tTt p.S1058F SBNO1_uc010tao.2_Missense_Mutation_p.S1057F|SBNO1_uc010taq.2_Missense_Mutation_p.S9F|SBNO1_uc001ues.1_Missense_Mutation_p.S9F NM_001167856 NP_001161328 A3KN83 SBNO1_HUMAN Homo sapiens strawberry notch homolog 1 (Drosophila) (SBNO1), transcript variant 1, mRNA. 1058 ATP binding|DNA binding|hydrolase activity NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2) 62 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197) TACCATAGGAGAATCCAAGTT 0.318000 12 8 0 0 1 0 0 KIF1C 10749 broad.mit.edu 37 17 4925875 4925876 + Missense_Mutation DNP CC TT TT TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr17:4925875_4925876CC>TT uc002gan.2 + 21 2856_2857 c.2499_2500CC>TT c.(2497-2502)ctccgg>ctTTgg p.R834W NM_006612 NP_006603 O43896 KIF1C_HUMAN Homo sapiens kinesin family member 1C (KIF1C), mRNA. 834 microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER Golgi apparatus|endoplasmic reticulum|microtubule ATP binding|microtubule motor activity p.L833L(2) NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3) 30 TGGAGGACCTCCGGGCCCACAT 0.673000 12 9 0 0 1 0 0 TMPRSS2 7113 broad.mit.edu 37 21 42839804 42839804 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr21:42839804C>T uc010gor.3 - 12 1496 c.1435G>A c.(1435-1437)Gga>Aga p.G479R TMPRSS2_uc002yzj.3_Missense_Mutation_p.G442R|TMPRSS2_uc010gos.1_Missense_Mutation_p.G442R|TMPRSS2_uc021wjn.1_5'Flank NM_001135099 NP_005647 O15393 TMPS2_HUMAN Homo sapiens transmembrane protease, serine 2 (TMPRSS2), transcript variant 1, mRNA. 442 Peptidase S1. proteolysis cytoplasm|extracellular region|integral to plasma membrane scavenger receptor activity|serine-type endopeptidase activity TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13) central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 4 Prostate(19;4.48e-07)|all_epithelial(19;0.031) AGAGGCCCTCCACTGTCACCC 0.562000 T """ERG, ETV1, ETV4, ETV5""" prostate 44 66 0 0 1 0 0 TLN1 7094 broad.mit.edu 37 9 35713965 35713965 + Silent SNP G T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr9:35713965G>T uc003zxt.2 - 24 3588 c.3234C>A c.(3232-3234)ccC>ccA p.P1078P NM_006289 NP_006280 Q9Y490 TLN1_HUMAN Homo sapiens talin 1 (TLN1), mRNA. 1078 axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane LIM domain binding|actin binding|insulin receptor binding|structural constituent of cytoskeleton|vinculin binding NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6) 85 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) CCCCAGGTAAGGGTTTAAGCT 0.468000 32 16 2.32078e-09 2.35331e-09 1 1 0 SHMT1 6470 broad.mit.edu 37 17 18232117 18232117 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr17:18232117C>T uc002gta.3 - 11 1589 c.1399G>A c.(1399-1401)Gag>Aag p.E467K SHMT1_uc002gsz.3_Missense_Mutation_p.E242K|SHMT1_uc002gtb.3_Missense_Mutation_p.E428K|SHMT1_uc010vxt.2_Missense_Mutation_p.E329K NM_004169 NP_004160 P34896 GLYC_HUMAN Homo sapiens serine hydroxymethyltransferase 1 (soluble) (SHMT1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 467 L-serine catabolic process|carnitine biosynthetic process|folic acid metabolic process|one-carbon metabolic process|purine base biosynthetic process cytosol|nucleus glycine hydroxymethyltransferase activity|protein homodimerization activity|pyridoxal phosphate binding breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1) 13 Glycine(DB00145)|Mimosine(DB01055)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116) CTCTCAACCTCCTCCCGGAGA 0.622000 11 8 0 0 1 0 0 PCNXL2 80003 broad.mit.edu 37 1 233231576 233231576 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:233231576G>A uc001hvl.2 - 21 4106 c.3871C>T c.(3871-3873)Ctg>Ttg p.L1291L PCNXL2_uc001hvm.1_Non-coding_Transcript|PCNXL2_uc009xfu.3_Intron|PCNXL2_uc001hvp.1_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. 1291 integral to membrane p.V1290V(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) ACATATGTCAGGACGAACTGT 0.448000 24 10 0 0 1 0 0 KRT15 3866 broad.mit.edu 37 17 39670293 39670293 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr17:39670293G>A uc002hwy.3 - 7 1544 c.1353C>T c.(1351-1353)tcC>tcT p.S451S KRT15_uc002hwz.3_Silent_p.S353S|KRT15_uc002hxa.3_Silent_p.S286S|KRT15_uc002hxb.1_3'UTR NM_002275 NP_002266 P19012 K1C15_HUMAN Homo sapiens keratin 15 (KRT15), mRNA. 451 Tail. epidermis development intermediate filament protein binding|structural constituent of cytoskeleton NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 Breast(137;0.000286) CTCTCTTGTGGGAAGAAACCA 0.522000 59 65 0 0 1 0 0 MKX 283078 broad.mit.edu 37 10 28023636 28023636 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr10:28023636G>A uc001ity.4 - 4 812 c.587C>T c.(586-588)tCg>tTg p.S196L MKX_uc001itx.4_Missense_Mutation_p.S196L NM_173576 NP_775847 Q8IYA7 MKX_HUMAN Homo sapiens mohawk homeobox (MKX), transcript variant 1, mRNA. 196 muscle organ development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2) 16 TTTGATGACCGAATTCTCACT 0.488000 31 48 0 0 1 0 0 ASXL3 80816 broad.mit.edu 37 18 31325292 31325292 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr18:31325292C>T uc010dmg.1 + 11 5535 c.5480C>T c.(5479-5481)cCc>cTc p.P1827L ASXL3_uc002kxq.2_Missense_Mutation_p.P1534L NM_030632 NP_085135 Q9C0F0 ASXL3_HUMAN Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA. 1827 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding p.P1827H(1) breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 GAAAACCACCCCAAAAAGAGA 0.478000 92 50 0 0 1 0 0 SLC5A2 6524 broad.mit.edu 37 16 31501463 31501463 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr16:31501463G>A uc002ecf.4 + 12 1723 c.1704G>A c.(1702-1704)gaG>gaA p.E568E SLC5A2_uc010car.3_Non-coding_Transcript|C16orf58_uc002ecg.3_5'Flank|C16orf58_uc002ech.2_3'UTR|C16orf58_uc002eci.2_3'UTR NM_003041 NP_003032 P31639 SC5A2_HUMAN Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 2 (SLC5A2), mRNA. 568 carbohydrate metabolic process integral to membrane low-affinity glucose:sodium symporter activity endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 25 ATAGCAAGGAGGAACGGGAGG 0.602000 48 14 0 0 1 0 0 SON 6651 broad.mit.edu 37 21 34922671 34922671 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr21:34922671C>T uc002yse.1 + 2 1183 c.1134C>T c.(1132-1134)gcC>gcT p.A378A SON_uc002ysb.1_Silent_p.A378A|SON_uc002ysc.3_Silent_p.A378A|SON_uc002ysd.3_5'UTR|SON_uc002ysf.1_Intron|SON_uc021win.1_Silent_p.A24A|SON_uc002ysg.3_5'Flank NM_138927 NP_620305 P18583 SON_HUMAN Homo sapiens SON DNA binding protein (SON), transcript variant f, mRNA. 378 RNA splicing|anti-apoptosis|cytokinesis|mRNA processing|regulation of RNA splicing|regulation of cell cycle|spindle pole body separation nuclear speck DNA binding|double-stranded RNA binding breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 72 CGTCGGTGGCCTCAGCGATGG 0.627000 67 86 0 0 1 0 0 RNFT2 84900 broad.mit.edu 37 12 117273830 117273830 + Splice_Site SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr12:117273830G>A uc009zwn.3 + 9 1331 c.1098_splice c.e9+1 p.Q366_splice RNFT2_uc001twb.4_Splice_Site_p.Q366_splice|RNFT2_uc001twa.4_Splice_Site_p.Q276_splice|RNFT2_uc001twc.4_Splice_Site_p.Q114_splice NM_001109903 NP_001103373 Q96EX2 RNFT2_HUMAN Homo sapiens ring finger protein, transmembrane 2 (RNFT2), transcript variant 1, mRNA. 366 integral to membrane zinc ion binding endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1) 6 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.034) GTACCTCTCAGGTGAGTTGGC 0.562000 42 32 0 0 1 0 0 KRT5 3852 broad.mit.edu 37 12 52908759 52908759 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr12:52908759G>A uc001san.3 - 8 1903 c.1740C>T c.(1738-1740)acC>acT p.T580T NM_000424 NP_000415 P13647 K2C5_HUMAN Homo sapiens keratin 5 (KRT5), mRNA. 580 Ser-rich.|Tail. epidermis development|hemidesmosome assembly cytosol|keratin filament protein binding|structural constituent of cytoskeleton endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2) 35 BRCA - Breast invasive adenocarcinoma(357;0.189) AGGAGGAGGTGGTGGAGACAA 0.607000 68 57 0 0 1 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140789886 140789886 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr5:140789886C>T uc003lkj.2 + 0 2117 c.2117C>T c.(2116-2118)gCc>gTc p.A706V 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_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lki.1_Missense_Mutation_p.A706V|PCDHGC5_uc011day.2_5'Flank|PCDHGC5_uc003lkl.2_5'Flank NM_018926 NP_061749 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily B, 6 (PCDHGB6), transcript variant 1, mRNA. 708 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) TTCCTCCTCGCCGTGATTCTG 0.582000 83 82 0 0 1 0 0 LRRC37A2 474170 broad.mit.edu 37 17 45127444 45127444 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr17:45127444C>T uc010wkj.1 + 1 996 c.642C>T c.(640-642)ctC>ctT p.L214L ARL17_uc021tzb.1_Intron|DQ597730_uc010wkl.2_Non-coding_Transcript A6NM11 L37A2_HUMAN Homo sapiens cDNA FLJ42521 fis, clone BRACE3000973. 1350 integral to membrane endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2) 15 Melanoma(429;0.211) BRCA - Breast invasive adenocarcinoma(366;0.232) CGAAGAGCCTCATAAATTCCC 0.443000 385 10 0 0 1 0 0 SHCBP1 79801 broad.mit.edu 37 16 46638351 46638351 + Nonsense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr16:46638351G>A uc002eec.4 - 5 752 c.712C>T c.(712-714)Cga>Tga p.R238* NM_024745 NP_079021 Q8NEM2 SHCBP_HUMAN Homo sapiens SHC SH2-domain binding protein 1 (SHCBP1), mRNA. 238 p.R238P(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213) GATGGAACTCGGTCTTCAAGA 0.383000 88 24 0 0 1 0 0 DAPK2 23604 broad.mit.edu 37 15 64263739 64263739 + Silent SNP G A A rs144523094 TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr15:64263739G>A uc002amr.3 - 3 367 c.336C>T c.(334-336)ttC>ttT p.F112F DAPK2_uc010uim.2_Non-coding_Transcript|DAPK2_uc010bgu.1_Silent_p.F102F NM_014326 NP_055141 Q9UIK4 DAPK2_HUMAN Homo sapiens death-associated protein kinase 2 (DAPK2), mRNA. 112 Protein kinase. apoptosis|induction of apoptosis|intracellular protein kinase cascade cytoplasm ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|identical protein binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|skin(1)|stomach(1) 11 LUAD - Lung adenocarcinoma(2;0.215) CCAGGAAATCGAAGAGCTCTC 0.557000 27 31 0 0 1 0 0 MINK1 50488 broad.mit.edu 37 17 4797555 4797555 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr17:4797555C>T uc010vsl.2 + 22 3001 c.2757C>T c.(2755-2757)ccC>ccT p.P919P MINK1_uc010vsk.2_Silent_p.P890P|MINK1_uc010vsm.2_Silent_p.P899P|MINK1_uc010vsn.2_Silent_p.P882P|MINK1_uc010vso.2_Silent_p.P827P|MINK1_uc010vsp.2_Silent_p.P380P NM_153827 NP_722549 Q8N4C8 MINK1_HUMAN Homo sapiens misshapen-like kinase 1 (MINK1), transcript variant 3, mRNA. 919 Mediates interaction with RAP2A. JNK cascade cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1) 6 GCCACTCACCCACCGAGAACA 0.622000 57 16 0 0 1 0 0 CLPTM1L 81037 broad.mit.edu 37 5 1339043 1339043 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr5:1339043G>A uc003jch.3 - 3 577 c.531C>T c.(529-531)aaC>aaT p.N177N CLPTM1L_uc003jcg.3_Silent_p.N44N NM_030782 NP_110409 Q96KA5 CLP1L_HUMAN Homo sapiens CLPTM1-like (CLPTM1L), mRNA. 177 apoptosis integral to membrane p.N177N(2)|p.L176L(1) breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 24 Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09) Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181) KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208) CCGCCATCACGTTCAGCGCCA 0.612000 50 42 0 0 1 0 0 GOLGA1 2800 broad.mit.edu 37 9 127684013 127684013 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr9:127684013C>T uc004bpc.3 - 8 1062 c.720G>A c.(718-720)ctG>ctA p.L240L GOLGA1_uc010mws.3_Non-coding_Transcript|GOLGA1_uc010mwt.1_Silent_p.L215L NM_002077 NP_002068 Q92805 GOGA1_HUMAN Homo sapiens golgin A1 (GOLGA1), mRNA. 240 Golgi cisterna membrane NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1) 20 TCTGCTCTTCCAGCGTTGAGT 0.488000 115 61 0 0 1 0 0 FSTL5 56884 broad.mit.edu 37 4 162307269 162307269 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr4:162307269C>T uc003iqh.3 - 15 2610 c.2174G>A c.(2173-2175)gGa>gAa p.G725E FSTL5_uc003iqi.3_Missense_Mutation_p.G724E|FSTL5_uc010iqv.3_Missense_Mutation_p.G715E NM_020116 NP_064501 Q8N475 FSTL5_HUMAN Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA. 725 extracellular region calcium ion binding central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 91 all_hematologic(180;0.24) COAD - Colon adenocarcinoma(41;0.179) CTGTATTTCTCCTCTGATGGT 0.423000 49 30 0 0 1 0 0 C1orf129 80133 broad.mit.edu 37 1 170959004 170959004 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:170959004G>A uc010plz.2 + 10 1042 c.888G>A c.(886-888)aaG>aaA p.K296K C1orf129_uc001ghg.3_Silent_p.K296K|C1orf129_uc009wvy.3_Silent_p.K103K NM_001163629 NP_001157101 Q5TGP6 CA129_HUMAN Homo sapiens chromosome 1 open reading frame 129 (C1orf129), transcript variant 1, mRNA. 296 binding breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(16)|pancreas(1)|prostate(1)|skin(3) 45 all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181) AGGTGTCTAAGATCGTGGATG 0.398000 128 45 0 0 1 0 0 ST18 9705 broad.mit.edu 37 8 53084355 53084355 + Missense_Mutation SNP T C C TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr8:53084355T>C uc003xqz.2 - 4 1222 c.1066A>G c.(1066-1068)Aaa>Gaa p.K356E ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Missense_Mutation_p.K321E|ST18_uc011lds.1_Missense_Mutation_p.K261E|ST18_uc003xra.2_Missense_Mutation_p.K356E|ST18_uc003xrb.2_Missense_Mutation_p.K356E NM_014682 NP_055497 O60284 ST18_HUMAN Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA. 356 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.K356E(2) NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) GTCTTACGTTTATTGTTAAAG 0.363000 83 56 0 0 1 0 0 TPH1 7166 broad.mit.edu 37 11 18062201 18062201 + Missense_Mutation SNP T C C TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr11:18062201T>C uc001mnp.2 - 0 135 c.109A>G c.(109-111)Atc>Gtc p.I37V TPH1_uc009yhe.2_Non-coding_Transcript NM_004179 NP_004170 P17752 TPH1_HUMAN Homo sapiens tryptophan hydroxylase 1 (TPH1), mRNA. 37 ACT. aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process cytosol amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1) 25 L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360) ACCTGAAAGATTTTCAGGGCT 0.333000 6 6 0 0 1 0 0 PDZD2 23037 broad.mit.edu 37 5 32053957 32053957 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr5:32053957G>A uc003jhl.3 + 9 2256 c.1868G>A c.(1867-1869)gGa>gAa p.G623E PDZD2_uc003jhm.3_Missense_Mutation_p.G623E|PDZD2_uc011cnx.1_Missense_Mutation_p.G449E NM_178140 NP_835260 O15018 PDZD2_HUMAN Homo sapiens PDZ domain containing 2 (PDZD2), mRNA. 623 PDZ 3. cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 TTCCCAAATGGATCAGCTGCA 0.483000 85 18 0 0 1 0 0 GPX5 2880 broad.mit.edu 37 6 28497379 28497379 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr6:28497379C>T uc003nll.2 + 1 241 c.239C>T c.(238-240)cCt>cTt p.P80L GPX5_uc003nlm.2_Missense_Mutation_p.P80L|GPX5_uc003nln.2_Non-coding_Transcript NM_001509 NP_001500 O75715 GPX5_HUMAN Homo sapiens glutathione peroxidase 5 (epididymal androgen-related protein) (GPX5), transcript variant 1, mRNA. 80 lipid metabolic process|response to oxidative stress extracellular region glutathione peroxidase activity endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 Glutathione(DB00143) GCGCAATATCCTGGTAAGAGA 0.358000 37 52 0 0 1 0 0 GPC5 2262 broad.mit.edu 37 13 93518535 93518535 + Splice_Site SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr13:93518535G>A uc010tif.2 + 8 1928 c.1562_splice c.e8-1 p.W521_splice NM_004466 NP_004457 P78333 GPC5_HUMAN Homo sapiens glypican 5 (GPC5), mRNA. 521 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) GCCTCTACAGGGATGCCAGAT 0.428000 55 25 0 0 1 0 0 MAPK8IP3 23162 broad.mit.edu 37 16 1813681 1813681 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr16:1813681G>A uc010uvl.2 + 16 2042 c.1922G>A c.(1921-1923)cGa>cAa p.R641Q MAPK8IP3_uc002cmk.3_Missense_Mutation_p.R640Q|MAPK8IP3_uc002cml.3_Missense_Mutation_p.R630Q|MAPK8IP3_uc021tah.1_Missense_Mutation_p.R634Q NM_015133 NP_055948 Q9UPT6 JIP3_HUMAN Homo sapiens mitogen-activated protein kinase 8 interacting protein 3 (MAPK8IP3), transcript variant 1, mRNA. 640 vesicle-mediated transport Golgi membrane MAP-kinase scaffold activity|kinesin binding|protein kinase binding NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3) 42 TCCGCCCGTCGAGAGCAGAAG 0.662000 11 8 0 0 1 0 0 OR2L3 391192 broad.mit.edu 37 1 248224825 248224825 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:248224825C>T uc001idx.1 + 0 842 c.842C>T c.(841-843)aCt>aTt p.T281I OR2L13_uc001ids.3_Intron NM_001004687 NP_001004687 Q8NG85 OR2L3_HUMAN Homo sapiens olfactory receptor, family 2, subfamily L, member 3 (OR2L3), mRNA. 281 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1) 41 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) ACCACCCTCACTCCAATGCTC 0.488000 106 78 0 0 1 0 0 PPARGC1A 10891 broad.mit.edu 37 4 23833265 23833265 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr4:23833265C>T uc003gqs.3 - 2 464 c.344G>A c.(343-345)gGa>gAa p.G115E PPARGC1A_uc003gqt.3_Non-coding_Transcript|PPARGC1A_uc011bxp.1_Non-coding_Transcript|PPARGC1A_uc010ier.1_Non-coding_Transcript NM_013261 NP_037393 Q9UBK2 PRGC1_HUMAN Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 alpha (PPARGC1A), mRNA. 115 RNA splicing|androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mRNA processing|mitochondrion organization|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|temperature homeostasis|transcription initiation from RNA polymerase II promoter DNA-directed RNA polymerase II, core complex DNA binding|RNA binding|RNA polymerase II transcription cofactor activity|androgen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|transcription factor binding central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5) 51 Breast(46;0.0503) GGTCACGTCTCCATCTGTCAG 0.542000 188 194 0 0 1 0 0 TRIP11 9321 broad.mit.edu 37 14 92471455 92471456 + Missense_Mutation DNP GG AA AA TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr14:92471455_92471456GG>AA uc001xzy.3 - 10 3238_3239 c.2864_2865CC>TT c.(2863-2865)acc>aTT p.T955I TRIP11_uc010auf.2_Missense_Mutation_p.T691I NM_004239 NP_004230 Q15643 TRIPB_HUMAN Homo sapiens thyroid hormone receptor interactor 11 (TRIP11), mRNA. 955 transcription from RNA polymerase II promoter Golgi apparatus|cytoskeleton|membrane|nucleus protein binding|transcription coactivator activity breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 COAD - Colon adenocarcinoma(157;0.223) AAAAGAGCTGGGTGTGTGTGGC 0.381000 T PDGFRB AML 44 17 0 0 1 0 0 PDE4C 5143 broad.mit.edu 37 19 18322673 18322674 + Missense_Mutation DNP GG AA AA TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr19:18322673_18322674GG>AA uc010xqc.2 - 13 2166_2167 c.1686_1687CC>TT c.(1684-1689)gaccgc>gaTTgc p.R563C PDE4C_uc002nik.4_Missense_Mutation_p.R563C|PDE4C_uc002nil.4_Missense_Mutation_p.R563C|PDE4C_uc002nig.4_Missense_Mutation_p.R278C|PDE4C_uc002nih.4_Missense_Mutation_p.R333C|PDE4C_uc010ebk.3_Missense_Mutation_p.R457C|PDE4C_uc002nii.4_Missense_Mutation_p.R531C|PDE4C_uc002nif.4_Missense_Mutation_p.R332C|PDE4C_uc010ebl.3_Missense_Mutation_p.R277C NM_001098819 NP_001092289 Q08493 PDE4C_HUMAN Homo sapiens phosphodiesterase 4C, cAMP-specific (PDE4C), transcript variant 2, mRNA. 563 signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Dyphylline(DB00651) GCCATGATGCGGTCCGTCCACT 0.609000 74 43 0 0 1 0 0 CD1E 913 broad.mit.edu 37 1 158324356 158324356 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:158324356G>A uc001fse.3 + 1 541 c.248G>A c.(247-249)gGa>gAa p.G83E CD1E_uc010pid.2_Missense_Mutation_p.G81E|CD1E_uc010pie.2_Intron|CD1E_uc001fsh.3_Intron|CD1E_uc001fry.3_Missense_Mutation_p.G83E|CD1E_uc001fsf.3_Missense_Mutation_p.G83E|CD1E_uc001fsg.3_Intron|CD1E_uc009wsv.3_Intron|CD1E_uc001fsj.3_Missense_Mutation_p.G83E|CD1E_uc001fsk.3_Missense_Mutation_p.G83E|CD1E_uc001fsa.3_Intron|CD1E_uc001fsd.3_Missense_Mutation_p.G83E|CD1E_uc001frz.3_Missense_Mutation_p.G83E|CD1E_uc010pig.2_Intron|CD1E_uc001fsc.3_Intron|CD1E_uc021pbm.1_5'Flank|CD1E_uc009wsw.3_5'Flank NM_030893 NP_112155 P15812 CD1E_HUMAN Homo sapiens CD1e molecule (CD1E), transcript variant 1, mRNA. 83 antigen processing and presentation|immune response Golgi membrane|early endosome|integral to plasma membrane|late endosome|lysosomal lumen breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1) 49 all_hematologic(112;0.0378) TGGTCCCATGGAAACTTCAGC 0.507000 44 22 0 0 1 0 0 XPO7 23039 broad.mit.edu 37 8 21856777 21856777 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr8:21856777C>T uc003xaa.4 + 22 2706 c.2604C>T c.(2602-2604)ttC>ttT p.F868F NM_015024 NP_055839 Q9UIA9 XPO7_HUMAN Homo sapiens exportin 7 (XPO7), mRNA. 868 mRNA transport|protein export from nucleus|transmembrane transport cytoplasm|nuclear pore nuclear export signal receptor activity|protein transporter activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724) TGCAGACCTTCATCAAGCTGC 0.493000 195 133 0 0 1 0 0 METTL7A 25840 broad.mit.edu 37 12 51319047 51319047 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr12:51319047G>A uc001rxb.3 + 0 514 c.226G>A c.(226-228)Gaa>Aaa p.E76K METTL7A_uc010smv.1_Missense_Mutation_p.E76K NM_014033 NP_054752 Q9H8H3 MET7A_HUMAN Homo sapiens methyltransferase like 7A (METTL7A), mRNA. 76 endoplasmic reticulum|lipid particle|membrane methyltransferase activity endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1) 10 CTCCCTGCTGGAAGTGGGCTG 0.542000 48 22 0 0 1 0 0 ADAM7 8756 broad.mit.edu 37 8 24350097 24350097 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr8:24350097C>T uc003xeb.3 + 14 1755 c.1642C>T c.(1642-1644)Ccc>Tcc p.P548S ADAM7_uc003xec.3_Missense_Mutation_p.P320S NM_003817 NP_003808 Q9H2U9 ADAM7_HUMAN Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA. 548 Cys-rich. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15) 64 Prostate(55;0.0181) Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182) CAGATTTCTTCCCTGTGAGGA 0.388000 48 24 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179404253 179404253 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr2:179404253C>T uc021vsy.1 - 300 91060 c.90835G>A c.(90835-90837)Gat>Aat p.D30279N MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Non-coding_Transcript|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.D23974N|TTN_uc021vta.1_Missense_Mutation_p.D23907N|TTN_uc021vtb.1_Missense_Mutation_p.D23782N NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 31206 Fibronectin type-III 121. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ACTCTGGAATCAATGGTATAC 0.488000 62 56 0 0 1 0 0 TMEM57 55219 broad.mit.edu 37 1 25815749 25815749 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:25815749G>A uc001bkk.3 + 8 1784 c.1582G>A c.(1582-1584)Gaa>Aaa p.E528K TMEM57_uc009vru.3_Missense_Mutation_p.E301K|TMEM57_uc009vrv.3_Missense_Mutation_p.E170K NM_018202 NP_060672 Q8N5G2 MACOI_HUMAN Homo sapiens transmembrane protein 57 (TMEM57), mRNA. 528 axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 27 Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201) UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649) GAAGGTGAAAGAAGACCAAAT 0.428000 36 12 0 0 1 0 0 FNBP4 23360 broad.mit.edu 37 11 47758197 47758197 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr11:47758197G>A uc009ylv.3 - 8 1705 c.1552C>T c.(1552-1554)Cca>Tca p.P518S FNBP4_uc001ngj.3_Missense_Mutation_p.P425S|FNBP4_uc001ngl.2_Non-coding_Transcript NM_015308 NP_056123 Q8N3X1 FNBP4_HUMAN Homo sapiens formin binding protein 4 (FNBP4), mRNA. 518 NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 44 TCTACTTTTGGTGTTGTCTGT 0.299000 11 5 0 0 1 0 0 PDZRN4 29951 broad.mit.edu 37 12 41949535 41949535 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr12:41949535G>A uc010skn.2 + 6 1346 c.1338G>A c.(1336-1338)cgG>cgA p.R446R PDZRN4_uc001rmq.4_Silent_p.R188R|PDZRN4_uc009zjz.3_Silent_p.R186R|PDZRN4_uc001rmr.3_Silent_p.R73R NM_001164595 NP_001158067 Q6ZMN7 PZRN4_HUMAN Homo sapiens PDZ domain containing ring finger 4 (PDZRN4), transcript variant 1, mRNA. 446 PDZ 2. ubiquitin-protein ligase activity|zinc ion binding breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 77 all_cancers(12;0.000673) Lung NSC(34;0.0205)|all_lung(34;0.0264) AAGACGGCCGGATTCGAGAAG 0.393000 66 46 0 0 1 0 0 VAV1 7409 broad.mit.edu 37 19 6820742 6820742 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr19:6820742C>T uc002mfu.1 + 1 331 c.234C>T c.(232-234)ttC>ttT p.F78F VAV1_uc010xjh.1_Silent_p.F78F|VAV1_uc010dva.1_Silent_p.F78F|VAV1_uc002mfv.1_Silent_p.F23F NM_005428 NP_005419 P15498 VAV_HUMAN Homo sapiens vav 1 guanine nucleotide exchange factor (VAV1), mRNA. 78 CH.|Leu-rich. T cell costimulation|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 62 TTAGAACCTTCCTGTCCACCT 0.552000 96 57 0 0 1 0 0 HENMT1 113802 broad.mit.edu 37 1 109200171 109200171 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:109200171C>T uc001dvt.4 - 2 290 c.52G>A c.(52-54)Gaa>Aaa p.E18K HENMT1_uc001dvu.4_Missense_Mutation_p.E18K|HENMT1_uc009wer.3_Missense_Mutation_p.E18K NM_001102592 NP_653185 Q5T8I9 HENMT_HUMAN Homo sapiens HEN1 methyltransferase homolog 1 (Arabidopsis) (HENMT1), transcript variant 2, mRNA. 18 gene silencing by RNA|piRNA metabolic process P granule O-methyltransferase activity|RNA binding|RNA methyltransferase activity|metal ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1) 16 CTGGGAACTTCTTCAAAATTA 0.393000 33 9 0 0 1 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140307459 140307459 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr5:140307459G>A uc003lih.2 + 0 1158 c.982G>A c.(982-984)Gtg>Atg p.V328M PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lig.1_Missense_Mutation_p.V328M NM_018898 NP_061721 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha subfamily C, 1 (PCDHAC1), transcript variant 1, mRNA. 353 Cadherin 3. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TAAACTGCTGGTGGAGGTGAC 0.552000 137 39 0 0 1 0 0 ATP11B 23200 broad.mit.edu 37 3 182591616 182591616 + Nonsense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr3:182591616C>T uc003flb.3 + 18 2322 c.2065C>T c.(2065-2067)Cga>Tga p.R689* ATP11B_uc003flc.3_Nonsense_Mutation_p.R273*|ATP11B_uc011bqm.1_5'UTR|ATP11B_uc010hxf.1_5'UTR NM_014616 NP_055431 Q9Y2G3 AT11B_HUMAN Homo sapiens ATPase, class VI, type 11B (ATP11B), mRNA. 689 ATP biosynthetic process|aminophospholipid transport integral to membrane|nuclear inner membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1) 41 all_cancers(143;9.04e-15)|Ovarian(172;0.0355) all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20) AGATAAAGTTCGAGAAACTAT 0.323000 21 19 0 0 1 0 0 C19orf10 56005 broad.mit.edu 37 19 4670198 4670198 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr19:4670198G>A uc002may.3 - 0 218 c.149C>T c.(148-150)tCc>tTc p.S50F NM_019107 NP_061980 Q969H8 CS010_HUMAN Homo sapiens chromosome 19 open reading frame 10 (C19orf10), mRNA. 50 ER-Golgi intermediate compartment|extracellular region haematopoietic_and_lymphoid_tissue(1)|large_intestine(1) 2 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.015) ATGGGAGAAGGAATGCACGAC 0.741000 22 9 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126329734 126329734 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr4:126329734G>A uc003ifj.4 + 3 5705 c.5705G>A c.(5704-5706)cGa>cAa p.R1902Q FAT4_uc011cgp.2_Missense_Mutation_p.R200Q NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA. 1902 Cadherin 18. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 AATTTGACTCGATTATTAGAT 0.348000 78 16 0 0 1 0 0 OR10G8 219869 broad.mit.edu 37 11 123901067 123901067 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr11:123901067G>A uc001pzp.1 + 0 738 c.738G>A c.(736-738)gtG>gtA p.V246V NM_001004464 NP_001004464 Q8NGN5 O10G8_HUMAN Homo sapiens olfactory receptor, family 10, subfamily G, member 8 (OR10G8), mRNA. 246 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I245I(1) breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) ACTGTATCGTGGTCCTTTGCT 0.547000 16 38 0 0 1 0 0 GABRA5 2558 broad.mit.edu 37 15 27128380 27128380 + Splice_Site SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr15:27128380G>A uc001zbd.2 + 5 808 c.276_splice c.e5+1 p.M92_splice GABRB3_uc001zbb.3_Intron|GABRA5_uc021sgi.1_Splice_Site_p.M92_splice NM_000810 NP_001158509 P31644 GBRA5_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 5 (GABRA5), transcript variant 1, mRNA. 92 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1) 49 all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227) all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) ACACGGAAATGGTAGGTCCCG 0.647000 24 33 0 0 1 0 0 MYH1 4619 broad.mit.edu 37 17 10400668 10400668 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr17:10400668C>T uc002gmo.3 - 31 4561 c.4467G>A c.(4465-4467)aaG>aaA p.K1489K AK097500_uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA. 1489 muscle myosin complex|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|motor activity NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 CATAAGCATTCTTAATCTTAA 0.363000 21 21 0 0 1 0 0 HEG1 57493 broad.mit.edu 37 3 124732177 124732177 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr3:124732177C>T uc011bke.2 - 6 2614 c.2546G>A c.(2545-2547)aGg>aAg p.R849K HEG1_uc003ehs.4_Missense_Mutation_p.R749K NM_020733 NP_065784 Q9ULI3 HEG1_HUMAN Homo sapiens HEG homolog 1 (zebrafish) (HEG1), mRNA. 749 extracellular region|integral to membrane calcium ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4) 47 CTCCCTTGCCCTGGGCAGGAC 0.473000 65 36 0 0 1 0 0 IL1RL1 9173 broad.mit.edu 37 2 102959622 102959622 + Missense_Mutation SNP A T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr2:102959622A>T uc002tbu.1 + 6 1080 c.809A>T c.(808-810)gAa>gTa p.E270V IL1RL1_uc010ywa.2_Missense_Mutation_p.E153V|IL18R1_uc002tbw.4_Intron|IL1RL1_uc002tbv.3_Missense_Mutation_p.E270V NM_016232 NP_057316 Q01638 ILRL1_HUMAN Homo sapiens interleukin 1 receptor-like 1 (IL1RL1), transcript variant 1, mRNA. 270 Ig-like C2-type 3. innate immune response integral to membrane interleukin-1 receptor activity|receptor signaling protein activity NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1) 16 CAACAAGAGGAAGGGCAAAAT 0.418000 63 26 0 0 1 0 0 DDX60L 91351 broad.mit.edu 37 4 169305954 169305954 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr4:169305954G>A uc021xuh.1 - 28 4035 c.3925C>T c.(3925-3927)Cgt>Tgt p.R1309C DDX60L_uc003irq.4_Missense_Mutation_p.R1309C NM_001012967 NP_001012985 Q5H9U9 DDX6L_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like (DDX60L), mRNA. 1309 Helicase C-terminal. ATP binding|ATP-dependent helicase activity|RNA binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1) 43 Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132) GBM - Glioblastoma multiforme(119;0.175) CTTCCAGCACGACCAGACATC 0.408000 15 6 0 0 1 0 0 LRRC45 201255 broad.mit.edu 37 17 79982582 79982583 + Missense_Mutation DNP GG AA AA TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr17:79982582_79982583GG>AA uc002kde.3 + 2 536_537 c.296_297GG>AA c.(295-297)cgg>cAA p.R99Q STRA13_uc002kdc.3_5'Flank|STRA13_uc002kdd.3_5'Flank NM_144999 NP_659436 Q96CN5 LRC45_HUMAN Homo sapiens leucine rich repeat containing 45 (LRRC45), mRNA. 99 centrosome p.R99W(1) lung(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 5 all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191) AACAACCTTCGGGCTGCAGGGG 0.619000 60 12 0 0 1 0 0 NOP14 8602 broad.mit.edu 37 4 2940994 2940994 + Nonsense_Mutation SNP C A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr4:2940994C>A uc003ggj.1 - 16 2467 c.2395G>T c.(2395-2397)Gaa>Taa p.E799* NOP14-AS1_uc003ggd.1_Intron|NOP14-AS1_uc003gge.1_Intron|NOP14-AS1_uc003ggg.1_Intron|NOP14-AS1_uc003ggh.3_Intron|NOP14-AS1_uc003ggi.1_Intron|NOP14_uc010icp.2_Intron|NOP14_uc021xkt.1_5'Flank|NOP14_uc003ggl.3_Nonsense_Mutation_p.E799* NM_003703 NP_003694 P78316 NOP14_HUMAN Homo sapiens NOP14 nucleolar protein homolog (yeast) (NOP14), mRNA. 799 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) Noc4p-Nop14p complex|mitochondrion|small-subunit processome snoRNA binding NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1) 30 CCTTTAAATTCACGCTTGTGT 0.493000 202 90 1.16018e-38 1.2017e-38 1 1 0 MYO18B 84700 broad.mit.edu 37 22 26422536 26422536 + Missense_Mutation SNP G C C rs114927091 by1000genomes TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr22:26422536G>C uc003abz.1 + 42 6846 c.6596G>C c.(6595-6597)cGg>cCg p.R2199P MYO18B_uc003aca.1_Missense_Mutation_p.R2080P|MYO18B_uc010guy.1_Missense_Mutation_p.R2081P|MYO18B_uc010guz.1_Missense_Mutation_p.R2079P|MYO18B_uc011aka.1_Missense_Mutation_p.R1353P|MYO18B_uc011akb.1_Missense_Mutation_p.R1712P|MYO18B_uc010gva.1_Missense_Mutation_p.R182P|MYO18B_uc010gvb.1_Non-coding_Transcript NM_032608 NP_115997 Q8IUG5 MY18B_HUMAN Homo sapiens myosin XVIIIB (MYO18B), mRNA. 2199 nucleus|sarcomere|unconventional myosin complex ATP binding|actin binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 TTTGTCCGCCGGCAAAAGTAC 0.567000 65 22 0 0 1 0 0 LILRB4 11006 broad.mit.edu 37 19 55175258 55175258 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr19:55175258C>T uc002qgp.3 + 2 479 c.117C>T c.(115-117)atC>atT p.I39I LILRB4_uc002qgo.1_Silent_p.I80I|LILRB4_uc002qgq.3_Silent_p.I39I|LILRB4_uc010ers.1_Intron|LILRB4_uc010ert.3_Silent_p.I80I|LILRB4_uc010eru.3_Silent_p.I68I NM_006847 NP_006838 Q8NHJ6 LIRB4_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 (LILRB4), transcript variant 1, mRNA. 39 Ig-like C2-type 1. integral to membrane|plasma membrane antigen binding|receptor activity breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3) 39 GBM - Glioblastoma multiforme(193;0.035) GCTCTGTGATCAGCTGGGGGA 0.602000 75 36 0 0 1 0 0 ZNF81 347344 broad.mit.edu 37 X 47775142 47775142 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chrX:47775142C>T uc022bvq.1 + 4 1346 c.1097C>T c.(1096-1098)tCa>tTa p.S366L ZNF81_uc010nhy.2_Missense_Mutation_p.S366L NM_007137 NP_009068 P51508 ZNF81_HUMAN Homo sapiens zinc finger protein 81 (ZNF81), mRNA. 366 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|large_intestine(1)|lung(1)|skin(1) 4 all_lung(315;0.0973) TGTGGGAAATCATTTTTCCAG 0.388000 5 41 0 0 1 0 0 C12orf59 120939 broad.mit.edu 37 12 10339077 10339077 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr12:10339077C>T uc001qxr.3 + 3 813 c.196C>T c.(196-198)Cgc>Tgc p.R66C C12orf59_uc001qxq.3_Missense_Mutation_p.R46C Q4KMG9 CL059_HUMAN Homo sapiens chromosome 12 open reading frame 59 (C12orf59), mRNA. 66 integral to membrane large_intestine(4)|lung(4)|ovary(1) 9 CCTGTGCTTCCGCTGCTGCTG 0.607000 53 28 0 0 1 0 0 IRS4 8471 broad.mit.edu 37 X 107976577 107976577 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chrX:107976577G>A uc004eoc.2 - 0 3031 c.2998C>T c.(2998-3000)Ctt>Ttt p.L1000F NM_003604 NP_003595 O14654 IRS4_HUMAN Homo sapiens insulin receptor substrate 4 (IRS4), mRNA. 1000 plasma membrane SH3/SH2 adaptor activity|insulin receptor binding|signal transducer activity NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1) 78 CTGAGGGGAAGGGGAGGAAGT 0.488000 12 86 0 0 1 0 0 COL9A1 1297 broad.mit.edu 37 6 71009877 71009877 + Splice_Site SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr6:71009877C>T uc003pfg.4 - 4 326 c.167_splice c.e4-1 p.G56_splice NM_001851 NP_001842 P20849 CO9A1_HUMAN Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA. 56 Nonhelical region (NC4).|TSP N-terminal. axon guidance|cell adhesion|organ morphogenesis collagen type IX metal ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4) 80 TCAGATCAAACCCTATAGAAT 0.358000 17 8 0 0 1 0 0 OR7D4 125958 broad.mit.edu 37 19 9325456 9325456 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr19:9325456C>T uc002mla.2 - 0 92 c.58G>A c.(58-60)Gat>Aat p.D20N NM_001005191 NP_001005191 Q8NG98 OR7D4_HUMAN Homo sapiens olfactory receptor, family 7, subfamily D, member 4 (OR7D4), mRNA. 20 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|skin(3)|stomach(1) 26 AGTTCAGGATCATCTGAGAGT 0.507000 51 35 0 0 1 0 0 NPIP 9284 broad.mit.edu 37 16 15026785 15026785 + RNA SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr16:15026785G>A uc002dcx.4 + 7 c.1347G>A Q9UND3 NPIP_HUMAN Homo sapiens nuclear pore complex interacting protein (NPIP), mRNA. mRNA transport|protein transport|transmembrane transport nuclear membrane|nuclear pore CGGTGGAGACGGAGGCCAACG 0.657000 54 4 0 0 1 0 0 PLA2G7 7941 broad.mit.edu 37 6 46672316 46672316 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr6:46672316C>T uc010jzf.3 - 11 1576 c.1307G>A c.(1306-1308)gGa>gAa p.G436E PLA2G7_uc021zae.1_Missense_Mutation_p.G436E NM_005084 NP_005075 Q13093 PAFA_HUMAN Homo sapiens phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma) (PLA2G7), transcript variant 1, mRNA. 436 inflammatory response|lipid catabolic process extracellular space 1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1) 14 Lung(136;0.192) TTTCTCTATTCCTGAAGAGTT 0.358000 24 30 0 0 1 0 0 X97876 0 broad.mit.edu 37 9 66499748 66499748 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr9:66499748C>T uc004aee.1 + 0 558 c.558C>T c.(556-558)ttC>ttT p.F186F X97876_uc004aed.1_Non-coding_Transcript Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134). CGTCCATTTTCGGGGTGGTGG 0.607000 91 4 0 0 1 0 0 WNK2 65268 broad.mit.edu 37 9 96051849 96051849 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr9:96051849C>T uc004ati.1 + 19 4924 c.4924C>T c.(4924-4926)Ccc>Tcc p.P1642S WNK2_uc011lud.1_Missense_Mutation_p.P1605S|WNK2_uc004atj.3_Missense_Mutation_p.P1605S|WNK2_uc004atk.3_Missense_Mutation_p.P1242S|WNK2_uc004atl.1_Missense_Mutation_p.P200S NM_006648 NP_006639 Q9Y3S1 WNK2_HUMAN Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA. 1642 intracellular protein kinase cascade ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2) 54 CCTGGCCCTGCCCCCAGTGCC 0.697000 7 3 0 0 1 0 0 BICD1 636 broad.mit.edu 37 12 32480779 32480779 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr12:32480779G>A uc001rku.3 + 4 1471 c.1390G>A c.(1390-1392)Gag>Aag p.E464K BICD1_uc001rkv.3_Missense_Mutation_p.E464K|BICD1_uc010skd.2_Non-coding_Transcript NM_001714 NP_001705 Q96G01 BICD1_HUMAN Homo sapiens bicaudal D homolog 1 (Drosophila) (BICD1), transcript variant 1, mRNA. 464 RNA processing|anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|stress granule assembly|viral reproduction cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network Rab GTPase binding|cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|structural constituent of cytoskeleton NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) OV - Ovarian serous cystadenocarcinoma(6;0.0201) GATGTATGATGAGCAGGTGAC 0.418000 50 27 0 0 1 0 0 MYCBP2 23077 broad.mit.edu 37 13 77730270 77730270 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr13:77730270G>A uc021rks.1 - 45 7105 c.6838C>T c.(6838-6840)Cgt>Tgt p.R2280C MYCBP2_uc010aev.3_Missense_Mutation_p.R1646C NM_015057 NP_055872 O75592 MYCB2_HUMAN Homo sapiens MYC binding protein 2 (MYCBP2), mRNA. 2242 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding p.R2242C(2)|p.R2280C(2) NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) CAACCACAACGAATATCATCC 0.373000 31 15 0 0 1 0 0 OSBPL3 26031 broad.mit.edu 37 7 24901378 24901378 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr7:24901378G>A uc003sxf.3 - 9 1286 c.881C>T c.(880-882)cCt>cTt p.P294L OSBPL3_uc003sxd.3_Non-coding_Transcript|OSBPL3_uc003sxe.3_Non-coding_Transcript|OSBPL3_uc003sxg.3_Missense_Mutation_p.P294L|OSBPL3_uc003sxh.3_Missense_Mutation_p.P263L|OSBPL3_uc003sxi.3_Missense_Mutation_p.P263L|OSBPL3_uc003sxj.1_Missense_Mutation_p.P59L|OSBPL3_uc003sxk.1_Missense_Mutation_p.P28L NM_015550 NP_056365 Q9H4L5 OSBL3_HUMAN Homo sapiens oxysterol binding protein-like 3 (OSBPL3), transcript variant 1, mRNA. 294 lipid transport lipid binding|protein binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1) 43 GCCAGAAAAAGGTTTCGGGAC 0.363000 48 34 0 0 1 0 0 PRUNE2 158471 broad.mit.edu 37 9 79321804 79321804 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr9:79321804C>T uc010mpk.3 - 7 5510 c.5386G>A c.(5386-5388)Gga>Aga p.G1796R PRUNE2_uc004akj.4_5'Flank|PRUNE2_uc022big.1_5'Flank|PRUNE2_uc010mpl.1_5'Flank|PRUNE2_uc022bih.1_Missense_Mutation_p.G1618R NM_015225 NP_056040 Q8WUY3 PRUN2_HUMAN Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA. 1796 G1 phase|apoptosis|induction of apoptosis cytoplasm metal ion binding|pyrophosphatase activity endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1) 16 GCAACATCTCCTGTTGTCCCT 0.468000 12 7 0 0 1 0 0 FAM113B 91523 broad.mit.edu 37 12 47629324 47629324 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr12:47629324C>T uc001rpq.3 + 1 1003 c.478C>T c.(478-480)Ctg>Ttg p.L160L FAM113B_uc001rpn.3_Silent_p.L160L|FAM113B_uc021qxi.1_Silent_p.L160L NM_138371 NP_612380 Q96HM7 F113B_HUMAN Homo sapiens family with sequence similarity 113, member B (FAM113B), mRNA. 160 hydrolase activity p.L159L(1) NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(10) 35 Renal(347;0.138)|Lung SC(27;0.192) GTCTTGCCTCCTGGTGTGGAA 0.607000 44 34 0 0 1 0 0 PARD3 56288 broad.mit.edu 37 10 34666938 34666938 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr10:34666938G>A uc010qej.2 - 9 1826 c.1496C>T c.(1495-1497)gCc>gTc p.A499V PARD3_uc010qep.2_Missense_Mutation_p.A455V|PARD3_uc010qeq.2_Missense_Mutation_p.A455V|PARD3_uc010qek.2_Missense_Mutation_p.A499V|PARD3_uc010qel.2_Missense_Mutation_p.A499V|PARD3_uc010qem.2_Missense_Mutation_p.A499V|PARD3_uc010qen.2_Missense_Mutation_p.A499V|PARD3_uc010qeo.2_Missense_Mutation_p.A499V|PARD3_uc001ixo.2_Missense_Mutation_p.A229V|PARD3_uc001ixr.2_Missense_Mutation_p.A499V|PARD3_uc001ixq.2_Missense_Mutation_p.A499V|PARD3_uc001ixp.2_Missense_Mutation_p.A499V|PARD3_uc001ixt.1_Missense_Mutation_p.A320V|PARD3_uc001ixu.2_Missense_Mutation_p.A455V|PARD3_uc001ixs.1_Missense_Mutation_p.A152V NM_019619 NP_062565 Q8TEW0 PARD3_HUMAN Homo sapiens par-3 partitioning defective 3 homolog (C. elegans) (PARD3), transcript variant 1, mRNA. 499 PDZ 2. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 63 Breast(68;0.0707) ATCCTGAATGGCCGCCCCCCG 0.488000 26 69 0 0 1 0 0 PNKP 11284 broad.mit.edu 37 19 50365694 50365694 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr19:50365694G>A uc002pqj.3 - 10 1073 c.963C>T c.(961-963)ttC>ttT p.F321F PNKP_uc002pqg.3_Silent_p.F102F|PNKP_uc002pqi.3_Silent_p.F282F|PNKP_uc021uxx.1_Silent_p.F321F NM_007254 NP_009185 Q96T60 PNKP_HUMAN Homo sapiens polynucleotide kinase 3'-phosphatase (PNKP), mRNA. 321 DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation nucleolus ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1) 19 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134) CAGGCGTGGCGAAGGGCAGGC 0.682000 Other BER factors 9 4 0 0 1 0 0 SFSWAP 6433 broad.mit.edu 37 12 132237880 132237881 + Missense_Mutation DNP GG AA AA rs149684834 TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr12:132237880_132237881GG>AA uc001uja.1 + 7 1434_1435 c.1294_1295GG>AA c.(1294-1296)ggg>AAg p.G432K SFSWAP_uc010tbn.1_Missense_Mutation_p.G432K|SFSWAP_uc001ujb.1_Missense_Mutation_p.G225K|SFSWAP_uc001uiz.1_Missense_Mutation_p.G306K NM_004592 NP_004583 Q12872 SFSWA_HUMAN Homo sapiens splicing factor, suppressor of white-apricot homolog (Drosophila) (SFSWAP), mRNA. 432 mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus RNA binding|protein binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2) 25 GACTAGCAGCGGGGCCACCTCC 0.644000 40 35 0 0 1 0 0 PCDHGC5 56097 broad.mit.edu 37 5 140754526 140754526 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr5:140754526C>T uc003ljy.2 + 0 876 c.876C>T c.(874-876)ttC>ttT p.F292F 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_uc011dau.2_Silent_p.F292F NM_018919 NP_061742 Q9Y5F6 PCDGM_HUMAN Homo sapiens protocadherin gamma subfamily A, 6 (PCDHGA6), transcript variant 1, mRNA. 293 Cadherin 3. 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) CACAAATTTTCTGTTTGAATG 0.448000 31 19 0 0 1 0 0 SPTBN4 57731 broad.mit.edu 37 19 41008319 41008319 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr19:41008319G>A uc002ony.3 + 9 1194 c.1108G>A c.(1108-1110)Gag>Aag p.E370K SPTBN4_uc002onx.3_Missense_Mutation_p.E370K|SPTBN4_uc002onz.3_Missense_Mutation_p.E370K NM_020971 NP_066022 Q9H254 SPTN4_HUMAN Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA. 370 actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport PML body|cytosol|nuclear matrix|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 73 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) GGGGAACCTAGAGGTGCTGCT 0.612000 31 46 0 0 1 0 0 IL22 50616 broad.mit.edu 37 12 68647128 68647128 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr12:68647128G>A uc001sty.1 - 0 154 c.101C>T c.(100-102)gCg>gTg p.A34V IL22_uc010stb.1_Missense_Mutation_p.A34V NM_020525 NP_065386 Q9GZX6 IL22_HUMAN Homo sapiens interleukin 22 (IL22), mRNA. 34 acute-phase response extracellular space cytokine activity|interleukin-22 receptor binding breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7) 14 Myeloproliferative disorder(1001;0.0255) Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018) GBM - Glioblastoma multiforme(7;5.06e-05)|BRCA - Breast invasive adenocarcinoma(357;0.00104) GCTGATGGGCGCAGCTGCTCC 0.567000 71 24 0 0 1 0 0 NFX1 4799 broad.mit.edu 37 9 33344120 33344120 + Missense_Mutation SNP C T T rs2860036 TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr9:33344120C>T uc003zsr.3 + 13 2434 c.2281C>T c.(2281-2283)Ccc>Tcc p.P761S NFX1_uc011lnw.2_Missense_Mutation_p.P760S|NFX1_uc003zso.3_Missense_Mutation_p.P760S|NFX1_uc003zsp.2_Missense_Mutation_p.P760S|NFX1_uc010mjr.2_Missense_Mutation_p.P761S|NFX1_uc003zsq.3_Missense_Mutation_p.P760S NM_002504 NP_002495 Q12986 NFX1_HUMAN Homo sapiens nuclear transcription factor, X-box binding 1 (NFX1), transcript variant 1, mRNA. 760 inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 25 LUSC - Lung squamous cell carcinoma(29;0.00506) GBM - Glioblastoma multiforme(74;0.224) CCCTCCAGTTCCCTGTGGTAC 0.488000 42 25 0 0 1 0 0 RHAG 6005 broad.mit.edu 37 6 49604509 49604509 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr6:49604509G>A uc003ozk.4 - 0 79 c.17C>T c.(16-18)cCt>cTt p.P6L RHAG_uc010jzl.3_Missense_Mutation_p.P6L|RHAG_uc010jzm.3_Missense_Mutation_p.P6L NM_000324 NP_000315 Q02094 RHAG_HUMAN Homo sapiens Rh-associated glycoprotein (RHAG), mRNA. 6 carbon dioxide transport|cellular ion homeostasis integral to plasma membrane ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding p.F5F(1) NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 39 Lung NSC(77;0.0255) AGCCATGAGAGGGAATGTGAA 0.448000 46 83 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110416859 110416859 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr8:110416859G>A uc003yne.3 + 14 1554 c.1450G>A c.(1450-1452)Gtt>Att p.V484I NM_177531 NP_803875 Q86WI1 PKHL1_HUMAN Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA. 484 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) GTATCGAAATGTTTATACTGA 0.373000 HNSCC(38;0.096) 13 7 0 0 1 0 0 ALDH3B1 221 broad.mit.edu 37 11 67789219 67789220 + Nonsense_Mutation DNP CC GT GT TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr11:67789219_67789220CC>GT uc010rpy.2 + 7 941_942 c.825_826CC>GT c.(823-828)ccccag>ccGTag p.Q276* ALDH3B1_uc001omz.3_Nonsense_Mutation_p.Q276*|ALDH3B1_uc001ona.3_Nonsense_Mutation_p.Q240*|ALDH3B1_uc001onb.3_Non-coding_Transcript NM_001161473 NP_001154945 P43353 AL3B1_HUMAN Homo sapiens aldehyde dehydrogenase 3 family, member B1 (ALDH3B1), transcript variant 3, mRNA. 277 alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process 3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase NADH(DB00157) GCGACGACCCCCAGAGCTCCCC 0.649000 OREG0021141 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 133 7 0 0 1 0 0 RAPGEF5 9771 broad.mit.edu 37 7 22190042 22190042 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr7:22190042C>T uc003svg.3 - 17 1721 c.1408G>A c.(1408-1410)Gac>Aac p.D470N RAPGEF5_uc011jyl.1_Missense_Mutation_p.D151N NM_012294 NP_036426 Q92565 RPGF5_HUMAN Homo sapiens Rap guanine nucleotide exchange factor (GEF) 5 (RAPGEF5), mRNA. 320 Ras-GEF. nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction nucleus GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1) 6 TCCGCCAGGTCTTTCCGGTAG 0.443000 63 53 0 0 1 0 0 FLJ36000 284124 broad.mit.edu 37 17 21911017 21911017 + RNA SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr17:21911017G>A uc002gza.2 + 1 c.1745G>A Homo sapiens uncharacterized FLJ36000 (FLJ36000), non-coding RNA. ccaggatgacgaaaccacagg 0.667000 3 7 0 0 1 0 0 GHR 2690 broad.mit.edu 37 5 42718559 42718559 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr5:42718559G>A uc021xxv.1 + 9 1108 c.971G>A c.(970-972)gGa>gAa p.G324E GHR_uc003jmt.3_Missense_Mutation_p.G317E|GHR_uc003jmu.3_Missense_Mutation_p.G317E|GHR_uc003jmv.2_Missense_Mutation_p.G317E|GHR_uc021xxw.1_Missense_Mutation_p.G317E|GHR_uc021xxx.1_Missense_Mutation_p.G317E|GHR_uc021xxy.1_Missense_Mutation_p.G317E|GHR_uc021xxz.1_Missense_Mutation_p.G317E|GHR_uc021xya.1_Missense_Mutation_p.G317E|GHR_uc021xyb.1_3'UTR|GHR_uc021xyc.1_Missense_Mutation_p.E294K|GHR_uc011cpq.2_Missense_Mutation_p.G130E|GHR_uc021xyd.1_Missense_Mutation_p.G295E NM_001242399 NP_001229328 P10912 GHR_HUMAN Homo sapiens growth hormone receptor (GHR), transcript variant 2, mRNA. 317 2-oxoglutarate metabolic process|JAK-STAT cascade|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Myeloproliferative disorder(839;0.00878) Pegvisomant(DB00082)|Somatropin recombinant(DB00052) TTCTAGGAAGGAAAATTAGAG 0.299000 90 76 0 0 1 0 0 ZNF786 136051 broad.mit.edu 37 7 148767681 148767681 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr7:148767681G>A uc003wfh.2 - 3 2320 c.2183C>T c.(2182-2184)cCc>cTc p.P728L ZNF786_uc011kuk.1_Missense_Mutation_p.P691L|ZNF786_uc003wfi.2_Missense_Mutation_p.P642L NM_152411 NP_689624 Q8N393 ZN786_HUMAN Homo sapiens zinc finger protein 786 (ZNF786), mRNA. 728 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2) 26 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) GGGCCTCTCGGGCCTGTGGAT 0.567000 134 97 0 0 1 0 0 SLC30A8 169026 broad.mit.edu 37 8 118170030 118170030 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr8:118170030C>T uc003yoh.3 + 3 749 c.519C>T c.(517-519)atC>atT p.I173I SLC30A8_uc010mcz.3_Silent_p.I124I|SLC30A8_uc003yog.3_Silent_p.I124I|SLC30A8_uc011lia.2_Silent_p.I124I|SLC30A8_uc022bab.1_Silent_p.I124I NM_173851 NP_001166286 Q8IWU4 ZNT8_HUMAN Homo sapiens solute carrier family 30 (zinc transporter), member 8 (SLC30A8), transcript variant 1, mRNA. 173 insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane protein homodimerization activity|zinc ion transmembrane transporter activity breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5) 41 all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.203) ATTACCAGATCCAGGCGACTG 0.567000 91 63 0 0 1 0 0 NOTCH3 4854 broad.mit.edu 37 19 15302824 15302824 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr19:15302824C>T uc002nan.3 - 3 702 c.626G>A c.(625-627)gGg>gAg p.G209E NOTCH3_uc002nao.1_Missense_Mutation_p.G209E NM_000435 NP_000426 Q9UM47 NOTC3_HUMAN Homo sapiens notch 3 (NOTCH3), mRNA. 209 EGF-like 5. Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 93 OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15) GCAGGTGCCCCCGTTACGGCA 0.632000 68 9 0 0 1 0 0 DBF4 10926 broad.mit.edu 37 7 87537203 87537203 + Nonsense_Mutation SNP C T T rs144858770 TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr7:87537203C>T uc003ujf.1 + 11 2254 c.1750C>T c.(1750-1752)Cga>Tga p.R584* DBF4_uc003ujh.1_Nonsense_Mutation_p.R324*|DBF4_uc003ujg.1_Nonsense_Mutation_p.R360*|DBF4_uc011khf.1_Nonsense_Mutation_p.R351* NM_006716 NP_006707 Q9UBU7 DBF4A_HUMAN Homo sapiens DBF4 homolog (S. cerevisiae) (DBF4), mRNA. 584 R -> Q (in Ref. 6; EAL24170). DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|cell cycle checkpoint nucleoplasm enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3) 28 Esophageal squamous(14;0.00202) Breast(660;0.0334) AATATTAGGACGAAATAGAAA 0.328000 50 48 0 0 1 0 0 FLNB 2317 broad.mit.edu 37 3 58094970 58094970 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr3:58094970C>T uc003djj.2 + 13 2285 c.2120C>T c.(2119-2121)tCa>tTa p.S707L FLNB_uc010hne.2_Missense_Mutation_p.S707L|FLNB_uc003djk.2_Missense_Mutation_p.S707L|FLNB_uc010hnf.2_Missense_Mutation_p.S707L|FLNB_uc003djl.2_Missense_Mutation_p.S538L|FLNB_uc003djm.2_Missense_Mutation_p.S538L NM_001457 NP_001448 O75369 FLNB_HUMAN Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA. 707 actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5) 120 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) TATGCATGCTCATACACCCCG 0.572000 19 9 0 0 1 0 0 DIAPH1 1729 broad.mit.edu 37 5 140953121 140953121 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr5:140953121C>T uc003llb.4 - 15 2437 c.2296G>A c.(2296-2298)Gga>Aga p.G766R DIAPH1_uc003llc.4_Missense_Mutation_p.G757R|DIAPH1_uc021yep.1_Missense_Mutation_p.G766R|DIAPH1_uc021yeq.1_Missense_Mutation_p.G757R|DIAPH1_uc010jgc.1_Missense_Mutation_p.G205R NM_005219 NP_005210 O60610 DIAP1_HUMAN Homo sapiens diaphanous homolog 1 (Drosophila) (DIAPH1), transcript variant 1, mRNA. 766 regulation of microtubule-based process|sensory perception of sound cytoplasm|cytoskeleton|ruffle membrane Rho GTPase binding|actin binding|receptor binding breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2) 23 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGGGTTAATCCAAATGGCAGA 0.527000 45 16 0 0 1 0 0 FPGT-TNNI3K 100526835 broad.mit.edu 37 1 74902181 74902181 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:74902181G>A uc001dge.2 + 20 2219 c.2152G>A c.(2152-2154)Gat>Aat p.D718N FPGT-TNNI3K_uc001dgd.3_Missense_Mutation_p.D718N|FPGT-TNNI3K_uc001dgf.2_Missense_Mutation_p.D617N NM_001112808 NP_001106279 Q59H18 TNI3K_HUMAN Homo sapiens FPGT-TNNI3K readthrough (FPGT-TNNI3K), transcript variant 1, mRNA. 617 Protein kinase. cytoplasm|nucleus ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding ACAGTCTCTGGATGAAGACAA 0.338000 16 18 0 0 1 0 0 PZP 5858 broad.mit.edu 37 12 9348941 9348941 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr12:9348941G>A uc001qvl.3 - 9 1106 c.1077C>T c.(1075-1077)atC>atT p.I359I PZP_uc009zgl.3_Silent_p.I228I NM_002864 NP_002855 Homo sapiens pregnancy-zone protein (PZP), mRNA. breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5) 102 CAAAAAAGGGGATTCCTTGTC 0.413000 28 15 0 0 1 0 0 FANCG 2189 broad.mit.edu 37 9 35076968 35076968 + Splice_Site SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr9:35076968C>T uc003zwb.1 - 6 1269 c.777_splice c.e6+1 p.M259_splice FANCG_uc010mkj.1_Splice_Site_p.M1_splice|FANCG_uc011lot.1_Splice_Site_p.M259_splice NM_004629 NP_004620 O15287 FANCG_HUMAN Homo sapiens Fanconi anemia, complementation group G (FANCG), mRNA. 259 DNA repair|cell cycle checkpoint|mitochondrion organization mitochondrion|nucleoplasm damaged DNA binding|protein binding NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1) 28 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) CTGTCTTTACCATCTTACGGT 0.527000 """Mis, N, F, S""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks 42 16 0 0 1 0 0 ADCY6 112 broad.mit.edu 37 12 49176422 49176422 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr12:49176422C>T uc001rsh.4 - 0 1456 c.796G>A c.(796-798)Ggc>Agc p.G266S ADCY6_uc001rsi.4_Missense_Mutation_p.G266S|ADCY6_uc001rsj.4_Missense_Mutation_p.G266S NM_015270 NP_056085 O43306 ADCY6_HUMAN Homo sapiens adenylate cyclase 6 (ADCY6), transcript variant 1, mRNA. 266 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane ATP binding|metal ion binding breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1) 29 GTGGAGAGGCCCAGGCCGCTG 0.632000 12 7 0 0 1 0 0 PXDN 7837 broad.mit.edu 37 2 1658265 1658265 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr2:1658265C>T uc002qxa.3 - 14 1917 c.1853G>A c.(1852-1854)cGa>cAa p.R618Q PXDN_uc002qxb.1_Missense_Mutation_p.R618Q NM_012293 NP_036425 Q92626 PXDN_HUMAN Homo sapiens peroxidasin homolog (Drosophila) (PXDN), mRNA. 618 extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 112 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) ATCTCCATTTCGACTGACGTC 0.418000 14 23 0 0 1 0 0 TEKT5 146279 broad.mit.edu 37 16 10775953 10775953 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr16:10775953C>T uc002czz.1 - 3 832 c.760G>A c.(760-762)Gaa>Aaa p.E254K NM_144674 NP_653275 Q96M29 TEKT5_HUMAN Homo sapiens tektin 5 (TEKT5), mRNA. 254 microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4) 34 CTTTTGTCTTCGAGGTCCCTC 0.542000 106 35 0 0 1 0 0 IGSF21 84966 broad.mit.edu 37 1 18692017 18692018 + Missense_Mutation DNP GC TT TT TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:18692017_18692018GC>TT uc001bau.2 + 5 1224_1225 c.841_842GC>TT c.(841-843)gcc>TTc p.A281F IGSF21_uc001bav.2_Missense_Mutation_p.A102F NM_032880 NP_116269 Q96ID5 IGS21_HUMAN Homo sapiens immunoglobin superfamily, member 21 (IGSF21), mRNA. 281 extracellular region p.S280C(1) endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 40 Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157) GGTCCACAGCGCCGAGCCCACC 0.639000 150 55 0 0 1 0 0 ABAT 18 broad.mit.edu 37 16 8866661 8866661 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr16:8866661C>T uc002czc.4 + 11 1007 c.841C>T c.(841-843)Cgg>Tgg p.R281W ABAT_uc002czd.4_Missense_Mutation_p.R281W|ABAT_uc010buh.3_Missense_Mutation_p.R223W|ABAT_uc010bui.3_Missense_Mutation_p.R281W NM_020686 NP_065737 P80404 GABT_HUMAN Homo sapiens 4-aminobutyrate aminotransferase (ABAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 281 behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion 4-aminobutyrate transaminase complex|mitochondrial matrix (S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2) 26 Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080) TGTGAAATATCGGAAAAAGAA 0.547000 42 16 0 0 1 0 0 TLR5 7100 broad.mit.edu 37 1 223284294 223284294 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:223284294C>T uc021pjl.1 - 0 2080 c.2080G>A c.(2080-2082)Gat>Aat p.D694N TLR5_uc001hnv.2_Missense_Mutation_p.D694N|TLR5_uc001hnw.2_Missense_Mutation_p.D694N NM_003268 NP_003259 O60602 TLR5_HUMAN Homo sapiens toll-like receptor 5 (TLR5), mRNA. 694 TIR. Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1). MyD88-dependent toll-like receptor signaling pathway|cellular response to mechanical stimulus|inflammatory response|innate immune response|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway integral to membrane|plasma membrane interleukin-1 receptor binding|transmembrane receptor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 GBM - Glioblastoma multiforme(131;0.0851) AAATAGGCATCATATTTGTAC 0.453000 61 53 0 0 1 0 0 CAMTA1 23261 broad.mit.edu 37 1 7700508 7700508 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:7700508G>A uc001aoi.3 + 6 766 c.559G>A c.(559-561)Gac>Aac p.D187N NM_015215 NP_056030 Q9Y6Y1 CMTA1_HUMAN Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA. 187 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding p.E186K(2) breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 85 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) GGCCATCGAGGACTGCGGCAA 0.612000 T WWTR1 epitheliod hemangioendothelioma 66 60 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179585325 179585325 + Nonsense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr2:179585325G>A uc021vsy.1 - 76 19657 c.19432C>T c.(19432-19434)Caa>Taa p.Q6478* TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Nonsense_Mutation_p.Q3139* NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN Homo sapiens titin (TTN), transcript variant N2-A, mRNA. 7405 Ig-like 46. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) ATTTCACATTGGAGAATCACA 0.388000 9 17 0 0 1 0 0 UNC93B1 81622 broad.mit.edu 37 11 67759316 67759316 + Missense_Mutation SNP C T T rs4014596 TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr11:67759316C>T uc001omw.1 - 11 1572 c.1492G>A c.(1492-1494)Gtg>Atg p.V498M NM_030930 NP_112192 Q9H1C4 UN93B_HUMAN Homo sapiens unc-93 homolog B1 (C. elegans) (UNC93B1), mRNA. 499 innate immune response|intracellular protein transport|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 7 signaling pathway|toll-like receptor 9 signaling pathway early phagosome|endoplasmic reticulum membrane|endosome|integral to membrane|lysosome p.V498M(1) ACCAGCAGCACCGCCAGCTTA 0.741000 6 3 0 0 1 0 0 OR4K5 79317 broad.mit.edu 37 14 20389561 20389561 + Missense_Mutation SNP C G G TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr14:20389561C>G uc010tkw.2 + 0 796 c.796C>G c.(796-798)Cct>Gct p.P266A NM_001005483 NP_001005483 Q8NGD3 OR4K5_HUMAN Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA. 266 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 47 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TACCATCTCTCCTTTGGATAA 0.403000 218 6 0 0 1 0 0 GUCY2C 2984 broad.mit.edu 37 12 14774038 14774038 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr12:14774038C>T uc001rcd.3 - 22 2851 c.2714G>A c.(2713-2715)gGg>gAg p.G905E NM_004963 NP_004954 P25092 GUC2C_HUMAN Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA. 905 Guanylate cyclase. intracellular signal transduction|receptor guanylyl cyclase signaling pathway integral to membrane ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1) 51 CTCAAAGGTCCCCATGAAGCT 0.483000 38 40 0 0 1 0 0 CFH 3075 broad.mit.edu 37 1 196857313 196857313 + Missense_Mutation SNP G T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:196857313G>T uc001gtp.3 + 0 170 c.33G>T c.(31-33)ttG>ttT p.L11F CFH_uc021pgt.1_Intron|CFH_uc009wyy.3_Missense_Mutation_p.L11F|CFH_uc001gto.3_Missense_Mutation_p.L11F NM_001201550 NP_001188479 P08603 CFAH_HUMAN Homo sapiens complement factor H-related 4 (CFHR4), transcript variant 1, mRNA. 0 complement activation, alternative pathway extracellular space NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 TTCTGACCTTGTGGGTTTCCT 0.353000 53 34 5.71845e-15 5.8219e-15 1 1 0 CSF2RA 1438 broad.mit.edu 37 X 1419394 1419394 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chrX:1419394C>T uc010nct.2 + 10 1143 c.821C>T c.(820-822)tCt>tTt p.S274F CRLF2_uc022brt.1_Intron|CSF2RA_uc011mhb.1_Missense_Mutation_p.S274F|CSF2RA_uc004cpq.2_Intron|CSF2RA_uc004cpn.2_Missense_Mutation_p.S274F|CSF2RA_uc004cpo.2_Missense_Mutation_p.S274F|CSF2RA_uc010ncu.2_Intron|CSF2RA_uc011mhc.1_Missense_Mutation_p.S141F|CSF2RA_uc004cpp.2_Missense_Mutation_p.S274F|CSF2RA_uc010ncv.2_Missense_Mutation_p.S274F|CSF2RA_uc004cpr.2_Missense_Mutation_p.S274F NM_001161529 NP_001155004 P15509 CSF2R_HUMAN Homo sapiens colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) (CSF2RA), transcript variant 7, mRNA. 274 extracellular region|integral to plasma membrane cytokine receptor activity central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 45 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Sargramostim(DB00020) ATTAATGTTTCTGGTGATTTG 0.398000 72 16 0 0 1 0 0 CDH6 1004 broad.mit.edu 37 5 31323357 31323357 + Missense_Mutation SNP C G G TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr5:31323357C>G uc003jhe.2 + 11 2675 c.2315C>G c.(2314-2316)cCt>cGt p.P772R NM_004932 NP_004923 P55285 CADH6_HUMAN Homo sapiens cadherin 6, type 2, K-cadherin (fetal kidney) (CDH6), mRNA. 772 adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 GACTGGGGACCTCGATTCAAA 0.473000 83 23 0 0 1 0 0 MDN1 23195 broad.mit.edu 37 6 90482431 90482431 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr6:90482431G>A uc003pnn.1 - 13 2060 c.1944C>T c.(1942-1944)ttC>ttT p.F648F MDN1_uc003pno.1_Silent_p.F66F NM_014611 NP_055426 Q9NU22 MDN1_HUMAN Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA. 648 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) CAGCGAAAGTGAACTTCTCCC 0.498000 69 27 0 0 1 0 0 ADAMTS7 11173 broad.mit.edu 37 15 79083116 79083116 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr15:79083116G>A uc002bej.4 - 5 1135 c.924C>T c.(922-924)caC>caT p.H308H ADAMTS7_uc010und.1_Silent_p.H308H|ADAMTS7_uc002bek.1_Silent_p.H308H NM_014272 NP_055087 Q9UKP4 ATS7_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA. 308 Peptidase M12B. 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 TGTCTGCATGGTGCGTGATCT 0.557000 75 28 0 0 1 0 0 SCG2 7857 broad.mit.edu 37 2 224462262 224462262 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr2:224462262G>A uc021vxk.1 - 0 1739 c.1739C>T c.(1738-1740)cCa>cTa p.P580L SCG2_uc002vnm.3_Missense_Mutation_p.P580L NM_003469 NP_003460 P13521 SCG2_HUMAN Homo sapiens secretogranin II (SCG2), mRNA. 580 MAPKKK cascade|angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion extracellular space|stored secretory granule chemoattractant activity|cytokine activity NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 44 Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271) Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008) CTGCCTATTTGGGGTATCATC 0.483000 39 30 0 0 1 0 0 LPA 4018 broad.mit.edu 37 6 161015101 161015101 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr6:161015101C>T uc003qtl.3 - 22 3638 c.3518G>A c.(3517-3519)gGa>gAa p.G1173E NM_005577 NP_005568 P08519 APOA_HUMAN Homo sapiens lipoprotein, Lp(a) (LPA), mRNA. 3681 Kringle 11. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) ATAACTCTGTCCATCACCATG 0.478000 52 19 0 0 1 0 0 MORC2 22880 broad.mit.edu 37 22 31332500 31332500 + Nonsense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr22:31332500G>A uc003aje.1 - 17 2913 c.1549C>T c.(1549-1551)Cag>Tag p.Q517* NM_014941 NP_055756 Q9Y6X9 MORC2_HUMAN Homo sapiens MORC family CW-type zinc finger 2 (MORC2), mRNA. 579 ATP binding|zinc ion binding breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 21 CCACGTACCTGAAGGGCCTCC 0.537000 59 72 0 0 1 0 0 FOXF1 2294 broad.mit.edu 37 16 86545077 86545077 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr16:86545077C>T uc002fjl.3 + 0 945 c.902C>T c.(901-903)tCc>tTc p.S301F FOXF1-AS1_uc021tmg.1_5'Flank|FOXF1-AS1_uc002fjk.2_5'Flank NM_001451 NP_001442 Q12946 FOXF1_HUMAN Homo sapiens forkhead box F1 (FOXF1), mRNA. 301 branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1) 12 AACCCCCTGTCCGGCAGCCTC 0.706000 21 3 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55538756 55538756 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr8:55538756G>A uc003xsd.1 + 3 2462 c.2314G>A c.(2314-2316)Gga>Aga p.G772R RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA. 772 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) CAAGGTTCAAGGACTTTTAAC 0.294000 18 14 0 0 1 0 0 OXCT2 64064 broad.mit.edu 37 1 40235421 40235421 + Missense_Mutation SNP A G G TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:40235421A>G uc001ceb.1 - 0 1600 c.1507T>C c.(1507-1509)Ttt>Ctt p.F503L BMP8B_uc001cdz.1_Intron|BMP8B_uc001cea.1_Intron NM_022120 NP_071403 Q9BYC2 SCOT2_HUMAN Homo sapiens 3-oxoacid CoA transferase 2 (OXCT2), mRNA. 503 ketone body catabolic process microtubule-based flagellum|mitochondrion 3-oxoacid CoA-transferase activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|pancreas(1)|upper_aerodigestive_tract(1) 6 all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) Succinic acid(DB00139) GACACAGCAAAGGCACACCCC 0.652000 25 17 0 0 1 0 0 DFNA5 1687 broad.mit.edu 37 7 24738800 24738800 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr7:24738800C>T uc010kus.1 - 9 1424 c.1336G>A c.(1336-1338)Ggg>Agg p.G446R DFNA5_uc003sxa.1_Missense_Mutation_p.G446R|DFNA5_uc010kut.1_Missense_Mutation_p.G282R NM_001127453 NP_001120926 O60443 DFNA5_HUMAN Homo sapiens deafness, autosomal dominant 5 (DFNA5), transcript variant 2, mRNA. 446 sensory perception of sound endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1) 19 TGCACAATCCCAAACCTTTCT 0.443000 28 30 0 0 1 0 0 PRKCSH 5589 broad.mit.edu 37 19 11558265 11558265 + Silent SNP C T T rs149732361 TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr19:11558265C>T uc010xlz.2 + 10 1197 c.861C>T c.(859-861)acC>acT p.T287T PRKCSH_uc002mrt.3_Silent_p.T287T|PRKCSH_uc002mru.3_Silent_p.T287T|PRKCSH_uc002mrv.1_Silent_p.T287T|PRKCSH_uc010dyb.3_Silent_p.T287T NM_002743 NP_002734 P14314 GLU2B_HUMAN Homo sapiens protein kinase C substrate 80K-H (PRKCSH), transcript variant 1, mRNA. 287 EF-hand 2. innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding endoplasmic reticulum lumen calcium ion binding|protein kinase C binding p.T287T(2) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3) 19 CACTGCCCACCGACCTTCCAG 0.677000 33 5 0 0 1 0 0 NSUN2 54888 broad.mit.edu 37 5 6604786 6604786 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr5:6604786C>T uc003jdu.3 - 15 2131 c.1750G>A c.(1750-1752)Ggg>Agg p.G584R NSUN2_uc003jdt.3_Missense_Mutation_p.G348R|NSUN2_uc011cmk.2_Missense_Mutation_p.G549R|NSUN2_uc003jdv.3_Missense_Mutation_p.G348R NM_017755 NP_060225 Q08J23 NSUN2_HUMAN Homo sapiens NOP2/Sun domain family, member 2 (NSUN2), transcript variant 1, mRNA. 584 cytoplasm|nucleolus tRNA (cytosine-5-)-methyltransferase activity|tRNA binding breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 41 ACTTTGATCCCCGTGTTAATA 0.453000 37 19 0 0 1 0 0 C6 729 broad.mit.edu 37 5 41143073 41143073 + Missense_Mutation SNP G C C TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr5:41143073G>C uc003jmk.2 - 17 2869 c.2659C>G c.(2659-2661)Cag>Gag p.Q887E C6_uc003jml.1_Missense_Mutation_p.Q887E NM_000065 NP_001108603 P13671 CO6_HUMAN Homo sapiens complement component 6 (C6), transcript variant 1, mRNA. 887 C5b-binding domain.|Complement control factor I module 2.|Kazal-like 2. complement activation, classical pathway|cytolysis|innate immune response membrane attack complex protein binding central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2) 96 Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157) TTGAAGCACTGTGGGGGCAAT 0.433000 49 11 0 0 1 0 0 TCEB3B 51224 broad.mit.edu 37 18 44559783 44559783 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr18:44559783C>T uc002lcr.1 - 0 2206 c.1853G>A c.(1852-1854)cGg>cAg p.R618Q KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron NM_016427 NP_057511 Q8IYF1 ELOA2_HUMAN Homo sapiens transcription elongation factor B polypeptide 3B (elongin A2) (TCEB3B), mRNA. 618 Activation domain (By similarity). regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 TACTCTCAGCCGCTGCTCTGG 0.517000 72 36 0 0 1 0 0 STK32B 55351 broad.mit.edu 37 4 5333116 5333116 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr4:5333116C>T uc003gih.1 + 3 494 c.430C>T c.(430-432)Cac>Tac p.H144Y STK32B_uc010ida.1_Missense_Mutation_p.H97Y NM_018401 NP_060871 Q9NY57 ST32B_HUMAN Homo sapiens serine/threonine kinase 32B (STK32B), mRNA. 144 Protein kinase. ATP binding|metal ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 39 CCACATCATCCACAGGTAACT 0.547000 44 32 0 0 1 0 0 POTEF 728378 broad.mit.edu 37 2 130872864 130872864 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr2:130872864C>T uc010fmh.2 - 3 959 c.559G>A c.(559-561)Gaa>Aaa p.E187K NM_001099771 NP_001093241 A5A3E0 POTEF_HUMAN Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA. 187 cell cortex ATP binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 53 TTTACTACTTCTGAATTCCCA 0.418000 155 10 0 0 1 0 0 RPL10A 4736 broad.mit.edu 37 6 35436650 35436650 + Splice_Site SNP A C C TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr6:35436650A>C uc003okp.1 + 2 114 c.80_splice c.e2+1 p.K27_splice RPL10A_uc003oks.1_Splice_Site NM_007104 NP_009035 P62906 RL10A_HUMAN Homo sapiens ribosomal protein L10a (RPL10A), mRNA. 27 anatomical structure morphogenesis|endocrine pancreas development|translational elongation|translational termination|viral transcription cytosol|large ribosomal subunit RNA binding|structural constituent of ribosome breast(1)|large_intestine(2)|ovary(1) 4 AAGCGCCGCAAGTGAGTGCCG 0.677000 17 28 0 0 1 0 0 SOCS3 9021 broad.mit.edu 37 17 76354553 76354553 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr17:76354553G>A uc002jvl.2 - 1 1040 c.624C>T c.(622-624)acC>acT p.T208T SOCS3_uc021uee.1_Silent_p.T208T NM_003955 NP_003946 O14543 SOCS3_HUMAN Homo sapiens suppressor of cytokine signaling 3 (SOCS3), mRNA. 208 SOCS box. JAK-STAT cascade|anti-apoptosis|interferon-gamma-mediated signaling pathway|regulation of growth|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway cytosol protein kinase inhibitor activity kidney(1)|lung(2)|ovary(1)|pancreas(1)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(99;0.000688)|OV - Ovarian serous cystadenocarcinoma(97;0.0554) CCGGCAGCTGGGTGACTTTCT 0.632000 30 37 0 0 1 0 0 NISCH 11188 broad.mit.edu 37 3 52514214 52514214 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr3:52514214C>T uc003ded.4 + 12 1565 c.1431C>T c.(1429-1431)tcC>tcT p.S477S NISCH_uc003dec.1_Silent_p.S477S NM_007184 NP_009115 Q9Y2I1 NISCH_HUMAN Homo sapiens nischarin (NISCH), mRNA. 477 Interaction with PAK1 (By similarity).|Necessary for homooligomerization and targeting to endosomes. apoptosis|cell communication cytosol|early endosome|plasma membrane|recycling endosome phosphatidylinositol binding|receptor activity NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 33 BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577) GTGAAGACTCCCGGCTCTCAG 0.647000 47 17 0 0 1 0 0 KLHDC8A 55220 broad.mit.edu 37 1 205308336 205308336 + Missense_Mutation SNP A T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:205308336A>T uc001hcf.1 - 3 1311 c.743T>A c.(742-744)tTc>tAc p.F248Y KLHDC8A_uc010prg.1_Missense_Mutation_p.F135Y|KLHDC8A_uc001hcg.1_Missense_Mutation_p.F248Y NM_018203 NP_060673 Q8IYD2 KLD8A_HUMAN Homo sapiens kelch domain containing 8A (KLHDC8A), mRNA. 248 breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 14 Breast(84;0.23) BRCA - Breast invasive adenocarcinoma(75;0.117) TTCCATGTCGAACACGTCCAT 0.612000 42 11 0 0 1 0 0 PXDNL 137902 broad.mit.edu 37 8 52387649 52387649 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr8:52387649C>T uc003xqu.4 - 6 678 c.577G>A c.(577-579)Gag>Aag p.E193K NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA. 193 LRRCT. hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) TGTAAAAGCTCCCCCAGCCAC 0.522000 36 7 0 0 1 0 0 MUC3A 4584 broad.mit.edu 37 7 100551975 100551975 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr7:100551975C>T uc003uxl.1 + 0 1226 c.426C>T c.(424-426)atC>atT p.I142I MUC3A_uc003uxk.1_Non-coding_Transcript SubName: Full=Intestinal mucin; Flags: Fragment; p.G142W(1) breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3) 44 CCACTATTATCATGTCCTCTT 0.413000 801 99 0 0 1 0 0 B4GALNT1 2583 broad.mit.edu 37 12 58025075 58025075 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr12:58025075G>A uc001spg.1 - 2 723 c.291C>T c.(289-291)gtC>gtT p.V97V B4GALNT1_uc010sru.2_Intron|B4GALNT1_uc010srv.2_Silent_p.V97V|B4GALNT1_uc001spi.3_Silent_p.V97V|B4GALNT1_uc010srw.1_Silent_p.V174V NM_001478 NP_001469 Q00973 B4GN1_HUMAN Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 1 (B4GALNT1), mRNA. 97 lipid glycosylation integral to Golgi membrane|membrane fraction (N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1) 20 Melanoma(17;0.122) BRCA - Breast invasive adenocarcinoma(9;0.109) CAATAGCTCGGACTTGTTTCT 0.597000 139 99 0 0 1 0 0 PEG3 5178 broad.mit.edu 37 19 57327492 57327492 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr19:57327492G>A uc002qnu.2 - 6 2669 c.2318C>T c.(2317-2319)tCa>tTa p.S773L PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.S744L|PEG3_uc002qnv.2_Missense_Mutation_p.S773L|PEG3_uc002qnw.2_Missense_Mutation_p.S649L|PEG3_uc002qnx.2_Missense_Mutation_p.S647L|PEG3_uc010etr.2_Missense_Mutation_p.S773L NM_001146186 NP_001139657 Q9GZU2 PEG3_HUMAN Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA. 773 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) CCTCTCATATGATTTTGCCTC 0.438000 78 87 0 0 1 0 0 SPEF2 79925 broad.mit.edu 37 5 35727789 35727789 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr5:35727789G>A uc003jjo.3 + 20 3038 c.2927G>A c.(2926-2928)gGa>gAa p.G976E SPEF2_uc003jjp.1_Missense_Mutation_p.G462E NM_024867 NP_079143 Q9C093 SPEF2_HUMAN Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA. 976 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TCTCCTAAAGGAAAATCATCA 0.383000 58 11 0 0 1 0 0 LPA 4018 broad.mit.edu 37 6 160966476 160966476 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr6:160966476G>A uc003qtl.3 - 33 5514 c.5394C>T c.(5392-5394)ctC>ctT p.L1798L NM_005577 NP_005568 P08519 APOA_HUMAN Homo sapiens lipoprotein, Lp(a) (LPA), mRNA. 4306 Kringle 16. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity p.L1798I(1) NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) ACTTACCACAGAGAGGGATAT 0.388000 32 25 0 0 1 0 0 YTHDC1 91746 broad.mit.edu 37 4 69203114 69203114 + Missense_Mutation SNP C G G TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr4:69203114C>G uc003hdx.3 - 3 867 c.514G>C c.(514-516)Gaa>Caa p.E172Q YTHDC1_uc003hdy.3_Missense_Mutation_p.E172Q NM_001031732 NP_001026902 Q96MU7 YTDC1_HUMAN Homo sapiens YTH domain containing 1 (YTHDC1), transcript variant 1, mRNA. 172 Glu-rich. NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 30 TTCACTTCTTCCTTAGAAGAC 0.443000 59 44 0 0 1 0 0 OSBPL6 114880 broad.mit.edu 37 2 179247813 179247813 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr2:179247813C>T uc002uly.3 + 17 2303 c.1759C>T c.(1759-1761)Cct>Tct p.P587S MIR548N_uc021vsx.1_Intron|OSBPL6_uc002ulx.3_Missense_Mutation_p.P562S|OSBPL6_uc010zfe.2_Missense_Mutation_p.P531S|OSBPL6_uc002ulz.3_Missense_Mutation_p.P526S|OSBPL6_uc002uma.3_Missense_Mutation_p.P566S NM_001201480 NP_001188409 Q9BZF3 OSBL6_HUMAN Homo sapiens oxysterol binding protein-like 6 (OSBPL6), transcript variant 3, mRNA. 562 lipid transport lipid binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335) CCTGCCAGCTCCTTGTCCTGA 0.507000 38 35 0 0 1 0 0 LCTL 197021 broad.mit.edu 37 15 66853527 66853527 + Missense_Mutation SNP G A A rs143302973 TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr15:66853527G>A uc002aqc.3 - 4 739 c.607C>T c.(607-609)Cgg>Tgg p.R203W LCTL_uc002aqd.4_Missense_Mutation_p.R30W|LCTL_uc010bhw.3_5'UTR NM_207338 NP_997221 Q6UWM7 LCTL_HUMAN Homo sapiens lactase-like (LCTL), mRNA. 203 carbohydrate metabolic process endoplasmic reticulum membrane|integral to membrane cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds p.R203R(2)|p.P202H(1) NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 CTGCTTACCCGAGGATCACTG 0.547000 75 30 0 0 1 0 0 MRGPRD 116512 broad.mit.edu 37 11 68748252 68748252 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr11:68748252C>T uc010rqf.2 - 0 204 c.204G>A c.(202-204)ctG>ctA p.L68L NM_198923 NP_944605 Q8TDS7 MRGRD_HUMAN Homo sapiens MAS-related GPR, member D (MRGPRD), mRNA. 68 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2) 22 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) CGGCTGCCGCCAGGTTGAGGA 0.577000 15 33 0 0 1 0 0 SDCCAG3 10807 broad.mit.edu 37 9 139301871 139301871 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr9:139301871G>A uc004chi.3 - 4 750 c.545C>T c.(544-546)aCc>aTc p.T182I SDCCAG3_uc004chj.3_Missense_Mutation_p.T159I|SDCCAG3_uc004chk.3_Missense_Mutation_p.T109I NM_001039707 NP_001034796 Q96C92 SDCG3_HUMAN Homo sapiens serologically defined colon cancer antigen 3 (SDCCAG3), transcript variant 1, mRNA. 182 cytoplasm NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9) 16 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06) ACTCCATCCGGTGTCCTCATC 0.627000 10 7 0 0 1 0 0 MBD4 8930 broad.mit.edu 37 3 129156130 129156130 + Silent SNP T C C TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr3:129156130T>C uc003emh.1 - 2 533 c.357A>G c.(355-357)agA>agG p.R119R IFT122_uc003eml.3_5'Flank|IFT122_uc003emm.3_5'Flank|IFT122_uc003emn.3_5'Flank|IFT122_uc003emo.3_5'Flank|IFT122_uc003emp.3_5'Flank|IFT122_uc010htc.3_5'Flank|IFT122_uc011bky.2_5'Flank|MBD4_uc003emi.1_Silent_p.R119R|MBD4_uc003emj.1_Silent_p.R119R|MBD4_uc003emk.1_Intron|MBD4_uc011bkw.1_Silent_p.R119R|IFT122_uc011bkx.1_5'Flank NM_003925 NP_003916 O95243 MBD4_HUMAN Homo sapiens methyl-CpG binding domain protein 4 (MBD4), mRNA. 119 MBD. depyrimidination nucleoplasm DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1) 22 AACTTTTGGATCTGAACTTCA 0.338000 Base excision repair (BER), DNA glycosylases 12 6 0 0 1 0 0 C12orf63 374467 broad.mit.edu 37 12 97137530 97137530 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr12:97137530G>A uc021rcc.1 + 20 2752 c.2674G>A c.(2674-2676)Gga>Aga p.G892R Q6ZTY8 CL063_HUMAN RecName: Full=Putative uncharacterized protein C12orf63; 892 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2) 54 TTTGCTGGAAGGAAATGAATT 0.348000 13 5 0 0 1 0 0 CDH5 1003 broad.mit.edu 37 16 66436774 66436774 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr16:66436774C>T uc002eom.4 + 11 2213 c.2057C>T c.(2056-2058)gCg>gTg p.A686V NM_001795 NP_001786 P33151 CADH5_HUMAN Homo sapiens cadherin 5, type 2 (vascular endothelium) (CDH5), mRNA. 686 adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity integral to membrane|membrane fraction beta-catenin binding|calcium ion binding|ion channel binding|receptor binding central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 Ovarian(137;0.0955) OV - Ovarian serous cystadenocarcinoma(108;0.107) TCCCTCTATGCGCAGGTGCAG 0.706000 20 9 0 0 1 0 0 OCIAD2 132299 broad.mit.edu 37 4 48894811 48894811 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr4:48894811C>T uc003gyt.3 - 5 564 c.361G>A c.(361-363)Ggt>Agt p.G121S OCIAD2_uc003gyu.3_Intron NM_001014446 NP_001014446 Q56VL3 OCAD2_HUMAN Homo sapiens OCIA domain containing 2 (OCIAD2), transcript variant 1, mRNA. 121 endosome kidney(1)|lung(3)|skin(1)|urinary_tract(1) 6 GGACCAAAACCAGCCCCACGG 0.363000 167 114 0 0 1 0 0 ZNF549 256051 broad.mit.edu 37 19 58049099 58049099 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr19:58049099G>A uc002qpb.2 + 3 976 c.727G>A c.(727-729)Gga>Aga p.G243R ZNF549_uc002qpa.2_Missense_Mutation_p.G230R NM_001199295 NP_001186224 Q6P9A3 ZN549_HUMAN Homo sapiens zinc finger protein 549 (ZNF549), transcript variant 1, mRNA. 243 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 21 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) AGTCCACACTGGAGAAAAAGC 0.388000 33 43 0 0 1 0 0 GPRIN3 285513 broad.mit.edu 37 4 90170801 90170801 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr4:90170801G>A uc003hsm.1 - 1 980 c.461C>T c.(460-462)tCc>tTc p.S154F GPRIN3_uc021xqb.1_Missense_Mutation_p.S154F NM_198281 NP_938022 Q6ZVF9 GRIN3_HUMAN Homo sapiens GPRIN family member 3 (GPRIN3), mRNA. 154 breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1) 36 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;5.67e-05) TCTCATCAGGGAATCTTCAGG 0.512000 102 81 0 0 1 0 0 B4GALT1 2683 broad.mit.edu 37 9 33167144 33167144 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr9:33167144C>T uc003zsg.2 - 0 213 c.24G>A c.(22-24)ctG>ctA p.L8L NM_001497 NP_001488 P15291 B4GT1_HUMAN Homo sapiens UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1 (B4GALT1), mRNA. 8 oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|Golgi trans cisterna|basolateral plasma membrane|brush border membrane|desmosome|external side of plasma membrane|extracellular region|glycocalyx|integral to membrane N-acetyllactosamine synthase activity|alpha-tubulin binding|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|beta-tubulin binding|lactose synthase activity|metal ion binding|protein binding|protein homodimerization activity endometrium(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1) 14 LUSC - Lung squamous cell carcinoma(29;0.0084) GBM - Glioblastoma multiforme(74;0.121) N-Acetyl-D-glucosamine(DB00141) CGCTGCCGCTCAGGAGCGGCT 0.721000 10 4 0 0 1 0 0 HNRNPA0 10949 broad.mit.edu 37 5 137089375 137089376 + Missense_Mutation DNP GG AA AA TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr5:137089375_137089376GG>AA uc003lbt.3 - 0 664_665 c.380_381CC>TT c.(379-381)gcc>gTT p.A127V MYOT_uc011cye.2_Intron NM_006805 NP_006796 Q13151 ROA0_HUMAN Homo sapiens heterogeneous nuclear ribonucleoprotein A0 (HNRNPA0), mRNA. 127 RRM 2. nuclear mRNA splicing, via spliceosome heterogeneous nuclear ribonucleoprotein complex|nucleoplasm RNA binding|nucleotide binding large_intestine(1)|lung(2)|skin(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) CAATAATCTCGGCCTTTTCCAC 0.564000 80 27 0 0 1 0 0 ITGA10 8515 broad.mit.edu 37 1 145533427 145533427 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:145533427C>T uc001eoa.3 + 11 1386 c.1310C>T c.(1309-1311)tCc>tTc p.S437F ITGA10_uc010oyv.2_Missense_Mutation_p.S306F|ITGA10_uc009wiw.3_Missense_Mutation_p.S294F|ITGA10_uc010oyw.2_Missense_Mutation_p.S382F NM_003637 NP_003628 O75578 ITA10_HUMAN Homo sapiens integrin, alpha 10 (ITGA10), mRNA. 437 cell-matrix adhesion|integrin-mediated signaling pathway integrin complex collagen binding|receptor activity NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) TCTGTTTCTTCCATGCTTTTG 0.512000 124 48 0 0 1 0 0 TNKS1BP1 85456 broad.mit.edu 37 11 57077227 57077227 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr11:57077227G>A uc001njr.3 - 4 3270 c.2958C>T c.(2956-2958)ttC>ttT p.F986F TNKS1BP1_uc001njs.3_Silent_p.F986F|TNKS1BP1_uc009ymd.1_Silent_p.F437F NM_033396 NP_203754 Q9C0C2 TB182_HUMAN Homo sapiens tankyrase 1 binding protein 1, 182kDa (TNKS1BP1), mRNA. 986 Acidic. nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase cytoskeleton|cytosol|nuclear telomeric heterochromatin ankyrin binding|enzyme binding breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_epithelial(135;0.21) CCTCGGGGCTGAACCCAGAGC 0.587000 16 46 0 0 1 0 0 HYDIN 54768 broad.mit.edu 37 16 70913340 70913340 + Missense_Mutation SNP T C C TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr16:70913340T>C uc002ezr.3 - 61 10565 c.10414A>G c.(10414-10416)Aac>Gac p.N3472D NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA. 3473 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) CGAGGGAGGTTCCCCTCACCA 0.547000 56 20 0 0 1 0 0 JAG1 182 broad.mit.edu 37 20 10633225 10633225 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr20:10633225G>A uc002wnw.2 - 5 1293 c.777C>T c.(775-777)ggC>ggT p.G259G JAG1_uc010gcd.1_5'Flank NM_000214 NP_000205 P78504 JAG1_HUMAN Homo sapiens jagged 1 (JAG1), mRNA. 259 EGF-like 1. Notch receptor processing|Notch signaling pathway|angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|regulation of cell migration|regulation of cell proliferation extracellular region|integral to plasma membrane Notch binding|calcium ion binding|growth factor activity|structural molecule activity biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1) 44 CACAGTACAGGCCTTGCCAGC 0.552000 Alagille Syndrome 30 22 0 0 1 0 0 BTN3A2 11118 broad.mit.edu 37 6 26368427 26368427 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr6:26368427C>T uc010jqh.2 + 2 276 c.17C>T c.(16-18)tCc>tTc p.S6F BTN3A2_uc003nhp.3_Missense_Mutation_p.S6F|BTN3A2_uc011dkd.2_Intron|BTN3A2_uc011dke.2_Intron|BTN3A2_uc010jqi.2_Missense_Mutation_p.S6F NM_001197247 NP_001184176 P78410 BT3A2_HUMAN Homo sapiens butyrophilin, subfamily 3, member A2 (BTN3A2), transcript variant 3, mRNA. 6 integral to membrane central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5) 10 ATGGCAAGTTCCCTGGCTTTC 0.463000 130 24 0 0 1 0 0 N4BP2L2 10443 broad.mit.edu 37 13 33017747 33017747 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr13:33017747G>A uc010abe.1 - 6 949 c.927C>T c.(925-927)acC>acT p.T309T N4BP2L2_uc001uug.2_Silent_p.T192T|N4BP2L2_uc010abd.1_Silent_p.T222T|N4BP2L2_uc001uuh.2_Silent_p.T140T|N4BP2L2_uc001uuj.2_Intron|N4BP2L2_uc010tdz.1_Silent_p.T294T|N4BP2L2_uc021rhy.1_5'Flank NM_033111 NP_149102 Q92802 N42L2_HUMAN Homo sapiens NEDD4 binding protein 2-like 2 (N4BP2L2), transcript variant 1, mRNA. 0 kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1) 16 Lung SC(185;0.0262) all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243) AAAGGTCCTGGGTGTCTAATG 0.388000 13 14 0 0 1 0 0 LAMA2 3908 broad.mit.edu 37 6 129774169 129774169 + Silent SNP C A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr6:129774169C>A uc021zfb.1 + 45 6571 c.6466C>A c.(6466-6468)Cga>Aga p.R2156R LAMA2_uc003qbn.3_Silent_p.R2154R|LAMA2_uc003qbo.3_Silent_p.R2154R NM_000426 NP_000417 P24043 LAMA2_HUMAN Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA. 2156 Laminin G-like 1. 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) TGACTGCATTCGAACATACAA 0.358000 7 11 2.27111e-07 2.29604e-07 1 1 0 MEIS1 4211 broad.mit.edu 37 2 66691301 66691301 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr2:66691301C>T uc002sdu.3 + 6 1148 c.691C>T c.(691-693)Cct>Tct p.P231S MEIS1_uc002sdt.3_Missense_Mutation_p.P231S|MEIS1_uc010yqh.2_Non-coding_Transcript|MEIS1_uc010yqi.2_Missense_Mutation_p.P166S|MEIS1_uc002sdw.1_Missense_Mutation_p.P87S NM_002398 NP_002389 O00470 MEIS1_HUMAN Homo sapiens Meis homeobox 1 (MEIS1), mRNA. 231 Ser/Thr-rich. sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1) 24 AACCCCAGGCCCTTCCAGCGG 0.493000 10 5 0 0 1 0 0 CRB1 23418 broad.mit.edu 37 1 197396684 197396684 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:197396684C>T uc001gtz.3 + 6 2438 c.2229C>T c.(2227-2229)gtC>gtT p.V743V CRB1_uc010poz.2_Silent_p.V674V|CRB1_uc009wza.3_Silent_p.V631V|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Intron|CRB1_uc010ppc.1_Non-coding_Transcript|CRB1_uc010ppd.2_Silent_p.V224V|CRB1_uc001gub.1_Silent_p.V392V NM_201253 NP_957705 P82279 CRUM1_HUMAN Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA. 743 Laminin G-like 2. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding p.V743I(1) NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 CCATGTTTGTCCGAACGCTTC 0.478000 28 35 0 0 1 0 0 TEFM 79736 broad.mit.edu 37 17 29226322 29226322 + Missense_Mutation SNP G T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr17:29226322G>T uc002hfu.2 - 3 1018 c.948C>A c.(946-948)ttC>ttA p.F316L TEFM_uc002hfv.2_Non-coding_Transcript NM_024683 NP_078959 Q96QE5 TEFM_HUMAN Homo sapiens transcription elongation factor, mitochondrial (TEFM), nuclear gene encoding mitochondrial protein, mRNA. 316 oxidative phosphorylation|regulation of transcription, DNA-dependent|transcription from mitochondrial promoter mitochondrial nucleoid|ribonucleoprotein complex DNA polymerase processivity factor activity|nucleic acid binding|protein binding CTGATGGGAAGAACACCCGAG 0.393000 92 47 2.77807e-22 2.85414e-22 1 1 0 MCM3AP 8888 broad.mit.edu 37 21 47666560 47666560 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr21:47666560C>T uc002zir.1 - 20 4567 c.4531G>A c.(4531-4533)Gag>Aag p.E1511K MCM3AP-AS1_uc002zim.2_Intron|MCM3AP-AS1_uc002zin.2_Intron|MCM3AP_uc002zio.1_5'UTR|MCM3AP_uc002zip.1_Missense_Mutation_p.E252K|MCM3AP_uc002ziq.1_Missense_Mutation_p.E438K|MCM3AP-AS1_uc002zis.1_Intron NM_003906 NP_003897 O60318 MCM3A_HUMAN Homo sapiens minichromosome maintenance complex component 3 associated protein (MCM3AP), mRNA. 1511 DNA replication|protein import into nucleus cytosol|nucleus DNA binding|nucleotide binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 72 Breast(49;0.112) ACTTCCTTCTCAACGGCGTCC 0.547000 260 52 0 0 1 0 0 SNX19 399979 broad.mit.edu 37 11 130779926 130779926 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr11:130779926G>A uc001qgk.4 - 3 2569 c.2021C>T c.(2020-2022)tCt>tTt p.S674F SNX19_uc010sce.2_Missense_Mutation_p.S54F|SNX19_uc010scf.2_Missense_Mutation_p.S117F|SNX19_uc010scg.2_5'UTR|SNX19_uc001qgl.3_Missense_Mutation_p.S674F|SNX19_uc009zcx.1_Non-coding_Transcript NM_014758 NP_055573 Q92543 SNX19_HUMAN Homo sapiens sorting nexin 19 (SNX19), mRNA. 674 cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding|protein binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1) 35 all_hematologic(175;0.0597) Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425) OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233) GTCTATTCTAGAGACCATAAA 0.453000 19 44 0 0 1 0 0 ZBTB1 22890 broad.mit.edu 37 14 64988363 64988363 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr14:64988363C>T uc021rul.1 + 0 141 c.141C>T c.(139-141)tcC>tcT p.S47S ZBTB1_uc001xhh.4_Silent_p.S47S|ZBTB1_uc010aqg.3_Silent_p.S47S|ZBTB1_uc001xhi.2_Silent_p.S47S NM_001123329 NP_001116801 Q9Y2K1 ZBTB1_HUMAN Homo sapiens zinc finger and BTB domain containing 1 (ZBTB1), transcript variant 1, mRNA. 47 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1) 13 all_lung(585;0.000567)|Myeloproliferative disorder(585;0.0255)|all_neural(303;0.0294) UCEC - Uterine corpus endometrioid carcinoma (185;0.0182)|all cancers(60;3.78e-43)|OV - Ovarian serous cystadenocarcinoma(108;1.22e-20)|BRCA - Breast invasive adenocarcinoma(234;6.75e-06)|KIRC - Kidney renal clear cell carcinoma(182;0.00269)|STAD - Stomach adenocarcinoma(64;0.012) CCTGTAGCTCCTATTTTAGAA 0.378000 36 15 0 0 1 0 0 MYCBP2 23077 broad.mit.edu 37 13 77672272 77672272 + Missense_Mutation SNP A G G TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr13:77672272A>G uc021rks.1 - 55 9284 c.9017T>C c.(9016-9018)tTt>tCt p.F3006S MYCBP2_uc010aev.3_Missense_Mutation_p.F2372S|MYCBP2_uc001vkg.1_Missense_Mutation_p.F491S|MYCBP2_uc010aew.3_Missense_Mutation_p.F354S NM_015057 NP_055872 O75592 MYCB2_HUMAN Homo sapiens MYC binding protein 2 (MYCBP2), mRNA. 2968 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) TTTGAAAAGAAAACTCGATTT 0.448000 68 41 0 0 1 0 0 MDFIC 29969 broad.mit.edu 37 7 114655981 114655981 + Missense_Mutation SNP C T T rs145223906 byFrequency TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr7:114655981C>T uc003vhf.3 + 4 1323 c.733C>T c.(733-735)Cct>Tct p.P245S NM_001166345 NP_001159817 Q9P1T7 MDFIC_HUMAN Homo sapiens MyoD family inhibitor domain containing (MDFIC), transcript variant 1, mRNA. 245 activation of JUN kinase activity|interspecies interaction between organisms|negative regulation of protein import into nucleus|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|regulation of Wnt receptor signaling pathway|transcription, DNA-dependent cytoplasm|nucleolus|nucleus Tat protein binding|cyclin binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1) 8 AATTTGTTTTCCTTCATAAAT 0.363000 110 22 0 0 1 0 0 APBA1 320 broad.mit.edu 37 9 72131745 72131745 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr9:72131745C>T uc004ahh.2 - 1 658 c.382G>A c.(382-384)Gag>Aag p.E128K NM_001163 NP_001154 Q02410 APBA1_HUMAN Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 1 (APBA1), mRNA. 128 axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission synaptic vesicle endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3) 37 TCCGTGTACTCCTCGGCCTCG 0.716000 20 12 0 0 1 0 0 CACNA1B 774 broad.mit.edu 37 9 140991020 140991020 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr9:140991020G>A uc004cog.3 + 35 5318 c.5173G>A c.(5173-5175)Gat>Aat p.D1725N CACNA1B_uc022bqn.1_Missense_Mutation_p.D1725N|CACNA1B_uc004coi.3_Missense_Mutation_p.D939N|CACNA1B_uc004cok.1_Non-coding_Transcript|CACNA1B_uc010ncp.1_Intron NM_000718 NP_000709 Q00975 CAC1B_HUMAN Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA. 1727 EF-hand. membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity p.H1725N(1) NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) TCACCACTTGGATGAGTTCAT 0.552000 27 20 0 0 1 0 0 SLC26A4 5172 broad.mit.edu 37 7 107342365 107342365 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr7:107342365G>A uc003vep.3 + 16 2121 c.1897G>A c.(1897-1899)Gaa>Aaa p.E633K SLC26A4_uc011kmb.2_Missense_Mutation_p.E220K|SLC26A4_uc011kmc.2_Missense_Mutation_p.E194K|SLC26A4_uc011kmd.2_Missense_Mutation_p.E202K NM_000441 NP_000432 O43511 S26A4_HUMAN Homo sapiens solute carrier family 26, member 4 (SLC26A4), mRNA. 633 STAS. regulation of pH|regulation of protein localization|sensory perception of sound apical plasma membrane|integral to membrane chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 46 CCCAACCAAGGAAATAGAGAT 0.418000 Pendred syndrome 52 37 0 0 1 0 0 PRDM10 56980 broad.mit.edu 37 11 129782022 129782022 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr11:129782022G>A uc001qfm.3 - 18 3184 c.2952C>T c.(2950-2952)atC>atT p.I984I PRDM10_uc001qfj.3_Silent_p.I898I|PRDM10_uc001qfk.3_Intron|PRDM10_uc001qfl.3_Silent_p.I898I|PRDM10_uc010sbx.2_Silent_p.I894I|PRDM10_uc001qfn.3_Silent_p.I980I NM_020228 NP_064613 Q9NQV6 PRD10_HUMAN Homo sapiens PR domain containing 10 (PRDM10), transcript variant 1, mRNA. 984 Gln-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2) 48 all_hematologic(175;0.0537) Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185) CGCTGACCTGGATGTGCTGCA 0.602000 30 68 0 0 1 0 0 RNFT2 84900 broad.mit.edu 37 12 117187910 117187910 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr12:117187910C>T uc009zwn.3 + 3 581 c.348C>T c.(346-348)ttC>ttT p.F116F RNFT2_uc001twb.4_Silent_p.F116F|RNFT2_uc001twa.4_Silent_p.F26F NM_001109903 NP_001103373 Q96EX2 RNFT2_HUMAN Homo sapiens ring finger protein, transmembrane 2 (RNFT2), transcript variant 1, mRNA. 116 His-rich. integral to membrane zinc ion binding endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1) 6 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.034) ACCACCATTTCCACCATGGCG 0.751000 4 4 0 0 1 0 0 STOX2 56977 broad.mit.edu 37 4 184931439 184931439 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr4:184931439G>A uc003ivz.1 + 2 2883 c.1448G>A c.(1447-1449)aGa>aAa p.R483K STOX2_uc003iwa.1_Missense_Mutation_p.R172K NM_020225 NP_064610 Q9P2F5 STOX2_HUMAN Homo sapiens storkhead box 2 (STOX2), mRNA. 483 embryo development|maternal placenta development breast(1)|endometrium(7)|lung(6) 14 all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283) all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227) AGGAATGAGAGATCCAACAAA 0.542000 4 7 0 0 1 0 0 DCHS1 8642 broad.mit.edu 37 11 6652951 6652952 + Missense_Mutation DNP GG AA AA TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr11:6652951_6652952GG>AA uc001mem.1 - 6 3971_3972 c.3570_3571CC>TT c.(3568-3573)ccccgc>ccTTgc p.R1191C NM_003737 NP_003728 Q96JQ0 PCD16_HUMAN Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA. 1191 Cadherin 11. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GTGGTGCTGCGGGGTGGGCTCC 0.614000 9 3 0 0 1 0 0 PAN2 9924 broad.mit.edu 37 12 56721154 56721154 + Nonsense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr12:56721154G>A uc001skx.3 - 5 1290 c.913C>T c.(913-915)Cag>Tag p.Q305* PAN2_uc001sky.3_Nonsense_Mutation_p.Q305*|PAN2_uc001skz.3_Nonsense_Mutation_p.Q305* NM_001127460 NP_001120932 Q504Q3 PAN2_HUMAN Homo sapiens PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) (PAN2), transcript variant 1, mRNA. 305 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process cytosol|nucleus nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 ATACCTGACTGAGAGATGATA 0.483000 60 32 0 0 1 0 0 ZNF597 146434 broad.mit.edu 37 16 3486837 3486838 + Missense_Mutation DNP CC TT TT TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr16:3486837_3486838CC>TT uc002cvd.3 - 3 1045_1046 c.861_862GG>AA c.(859-864)gaggaa>gaAAaa p.E288K NM_152457 NP_689670 Q96LX8 ZN597_HUMAN Homo sapiens zinc finger protein 597 (ZNF597), mRNA. 288 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1) 13 ACGAATGTTTCCTCAGGCAAAG 0.460000 89 24 0 0 1 0 0 TRPM3 80036 broad.mit.edu 37 9 73461384 73461384 + Nonsense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr9:73461384G>A uc004aid.3 - 3 830 c.586C>T c.(586-588)Cag>Tag p.Q196* TRPM3_uc004ahu.3_Nonsense_Mutation_p.Q26*|TRPM3_uc004ahv.3_Nonsense_Mutation_p.Q26*|TRPM3_uc004ahw.3_Nonsense_Mutation_p.Q43*|TRPM3_uc004ahx.3_Nonsense_Mutation_p.Q43*|TRPM3_uc004ahy.3_Nonsense_Mutation_p.Q43*|TRPM3_uc004ahz.3_Nonsense_Mutation_p.Q43*|TRPM3_uc004aia.3_Nonsense_Mutation_p.Q43*|TRPM3_uc004aib.3_Nonsense_Mutation_p.Q43*|TRPM3_uc004aic.3_Nonsense_Mutation_p.Q196*|TRPM3_uc010mor.3_Nonsense_Mutation_p.Q196*|TRPM3_uc004aie.3_Nonsense_Mutation_p.Q43*|TRPM3_uc004aif.3_Nonsense_Mutation_p.Q43*|TRPM3_uc004aig.3_Nonsense_Mutation_p.Q43*|TRPM3_uc004aii.3_Nonsense_Mutation_p.Q198* NM_001007471 NP_066003 Q9HCF6 TRPM3_HUMAN Homo sapiens transient receptor potential cation channel, subfamily M, member 3 (TRPM3), transcript variant 9, mRNA. 196 integral to membrane calcium channel activity NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1) 95 AGTTTTGGCTGGAGTTCAAAG 0.483000 80 58 0 0 1 0 0 AKAP9 10142 broad.mit.edu 37 7 91690670 91690670 + Nonsense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr7:91690670C>T uc003ulg.3 + 22 5923 c.5698C>T c.(5698-5700)Cga>Tga p.R1900* AKAP9_uc003ulf.3_Nonsense_Mutation_p.R1900*|AKAP9_uc003uli.3_Nonsense_Mutation_p.R1523* NM_005751 NP_005742 Q99996 AKAP9_HUMAN Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA. 1912 Glu-rich. G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport Golgi apparatus|centrosome|cytosol receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) AGAGGAACTTCGAGAGCGCCT 0.488000 T BRAF papillary thyroid 57 14 0 0 1 0 0 NF1 4763 broad.mit.edu 37 17 29556133 29556133 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr17:29556133C>T uc002hgg.3 + 20 2883 c.2500C>T c.(2500-2502)Cta>Tta p.L834L NF1_uc002hgh.3_Silent_p.L834L|NF1_uc010csn.2_Silent_p.L694L|NF1_uc002hgi.1_5'UTR NM_001042492 NP_001035957 P21359 NF1_HUMAN Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA. 834 MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus Ras GTPase activator activity|protein binding p.0?(8)|p.?(4) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) CACAGACTCCCTACAGGAATG 0.507000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 40 19 0 0 1 0 0 COL8A1 1295 broad.mit.edu 37 3 99514574 99514574 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr3:99514574G>A uc003dti.1 + 2 1960 c.1832G>A c.(1831-1833)gGg>gAg p.G611E MIR548G_uc021xbq.1_Intron|COL8A1_uc003dtg.1_Missense_Mutation_p.G610E|COL8A1_uc003dth.1_Missense_Mutation_p.G610E NM_020351 NP_065084 P27658 CO8A1_HUMAN Homo sapiens collagen, type VIII, alpha 1 (COL8A1), transcript variant 2, mRNA. 610 C1q.|Nonhelical region (NC1). angiogenesis|cell adhesion basement membrane|collagen type VIII breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1) 27 AAGAATGGAGGGCCAGCCTAT 0.567000 35 25 0 0 1 0 0 POLR1E 64425 broad.mit.edu 37 9 37487866 37487866 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr9:37487866G>A uc003zzz.1 + 1 661 c.373G>A c.(373-375)Gaa>Aaa p.E125K POLR1E_uc011lqj.1_Missense_Mutation_p.E63K|POLR1E_uc003zzy.1_Missense_Mutation_p.E63K|POLR1E_uc011lqk.1_5'UTR NM_022490 NP_071935 Q9GZS1 RPA49_HUMAN Homo sapiens polymerase (RNA) I polypeptide E, 53kDa (POLR1E), mRNA. 125 rRNA transcription cell junction|cytoplasm|nucleolus DNA binding|DNA-directed RNA polymerase activity|protein binding autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1) 12 GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229) TTAGGCAGCTGAAACAGATAG 0.443000 32 21 0 0 1 0 0 USP41 373856 broad.mit.edu 37 22 20729881 20729881 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr22:20729881G>A uc011ahq.1 - 1 143 c.77C>T c.(76-78)cCt>cTt p.P26L USP41_uc011ahp.1_5'Flank RecName: Full=Putative ubiquitin carboxyl-terminal hydrolase 41; EC=3.4.19.12; AltName: Full=Deubiquitinating enzyme 41; AltName: Full=Ubiquitin thiolesterase 41; AltName: Full=Ubiquitin-specific-processing protease 41; endometrium(1)|kidney(1)|lung(2)|skin(1) 5 CATCTGGAAAGGGACGCTTCT 0.577000 11 5 0 0 1 0 0 CER1 9350 broad.mit.edu 37 9 14722463 14722463 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr9:14722463C>T uc003zlj.3 - 0 253 c.208G>A c.(208-210)Ggg>Agg p.G70R NM_005454 NP_005445 O95813 CER1_HUMAN Homo sapiens cerberus 1, cysteine knot superfamily, homolog (Xenopus laevis) (CER1), mRNA. 70 BMP signaling pathway extracellular space cytokine activity endometrium(2)|large_intestine(3)|lung(6) 11 GBM - Glioblastoma multiforme(50;3.16e-06) TGGCCTTCCCCTGCAGGGCTG 0.532000 48 16 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113418770 113418770 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr8:113418770G>A uc003ynu.3 - 34 5951 c.5792C>T c.(5791-5793)tCc>tTc p.S1931F CSMD3_uc003yns.3_Missense_Mutation_p.S1133F|CSMD3_uc003ynt.3_Missense_Mutation_p.S1891F|CSMD3_uc011lhx.2_Missense_Mutation_p.S1827F NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA. 1931 Sushi 10. integral to membrane|plasma membrane p.D1930Y(1)|p.S1931S(1) breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 AGTAGGTAAGGAATCATTCCA 0.318000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 49 10 0 0 1 0 0 FAM46C 54855 broad.mit.edu 37 1 118166324 118166324 + Silent SNP C T T rs140288057 by1000genomes TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:118166324C>T uc021osq.1 + 0 834 c.834C>T c.(832-834)ttC>ttT p.F278F FAM46C_uc001ehe.3_Silent_p.F278F NM_017709 NP_060179 Q5VWP2 FA46C_HUMAN Homo sapiens family with sequence similarity 46, member C (FAM46C), mRNA. 278 endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1) 15 Lung SC(450;0.225) all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05) Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247) TCATCGACTTCCCGGACATCC 0.488000 """Mis, F, O""" MM Multiple Myeloma(3;1.13e-06) 41 19 0 0 1 0 0 L3MBTL4 91133 broad.mit.edu 37 18 6093472 6093472 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr18:6093472C>T uc002kmz.4 - 14 1415 c.1255G>A c.(1255-1257)Gat>Aat p.D419N L3MBTL4_uc002kmy.4_Missense_Mutation_p.D419N|L3MBTL4_uc010dkt.3_Missense_Mutation_p.D419N NM_173464 NP_775735 Q8NA19 LMBL4_HUMAN Homo sapiens l(3)mbt-like 4 (Drosophila) (L3MBTL4), mRNA. 419 chromatin modification nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 Colorectal(10;0.0249) CTCAAACGATCGTGAAGTGTT 0.378000 24 13 0 0 1 0 0 CSF2RA 1438 broad.mit.edu 37 X 1407734 1407734 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chrX:1407734G>A uc010nct.2 + 6 748 c.426G>A c.(424-426)ccG>ccA p.P142P CRLF2_uc022brt.1_Intron|CSF2RA_uc011mhb.1_Silent_p.P142P|CSF2RA_uc004cpq.2_Silent_p.P142P|CSF2RA_uc004cpn.2_Silent_p.P142P|CSF2RA_uc004cpo.2_Silent_p.P142P|CSF2RA_uc010ncu.2_Non-coding_Transcript|CSF2RA_uc011mhc.1_Silent_p.P9P|CSF2RA_uc004cpp.2_Silent_p.P142P|CSF2RA_uc010ncv.2_Silent_p.P142P|CSF2RA_uc004cpr.2_Silent_p.P142P NM_001161529 NP_001155004 P15509 CSF2R_HUMAN Homo sapiens colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) (CSF2RA), transcript variant 7, mRNA. 142 extracellular region|integral to plasma membrane cytokine receptor activity central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 45 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Sargramostim(DB00020) CGAGGGGTCCGACGGCCCCCC 0.478000 117 76 0 0 1 0 0 RTKN2 219790 broad.mit.edu 37 10 63958147 63958147 + Silent SNP A G G TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr10:63958147A>G uc001jlw.3 - 11 1447 c.1350T>C c.(1348-1350)atT>atC p.I450I RTKN2_uc009xpf.1_Silent_p.I252I|RTKN2_uc001jlv.3_Silent_p.I104I NM_145307 NP_660350 Q8IZC4 RTKN2_HUMAN Homo sapiens rhotekin 2 (RTKN2), mRNA. 450 signal transduction intracellular p.I450fs*67(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Prostate(12;0.0297)|all_hematologic(501;0.215) TTGTCTCTTCAATTTTTTTTT 0.333000 7 18 0 0 1 0 0 DSCR4 10281 broad.mit.edu 37 21 39493250 39493250 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr21:39493250C>T uc002ywp.3 - 0 205 c.100G>A c.(100-102)Gat>Aat p.D34N DSCR8_uc002ywt.4_5'Flank|DSCR8_uc010gnp.3_5'Flank|DSCR8_uc010gnq.3_5'Flank|DSCR8_uc010gnr.3_5'Flank|DSCR8_uc010gns.3_5'Flank NM_005867 NP_005858 P56555 DSCR4_HUMAN Homo sapiens Down syndrome critical region gene 4 (DSCR4), mRNA. 34 large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1) 6 gaggcaggatcaggaagcggg 0.507000 20 4 0 0 1 0 0 OR2M2 391194 broad.mit.edu 37 1 248343668 248343668 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:248343668C>T uc010pzf.2 + 0 381 c.381C>T c.(379-381)tgC>tgT p.C127C NM_001004688 NP_001004688 Q96R28 OR2M2_HUMAN Homo sapiens olfactory receptor, family 2, subfamily M, member 2 (OR2M2), mRNA. 127 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3) 70 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) TTGCTATTTGCCACCCTCTAA 0.408000 291 182 0 0 1 0 0 PTRH2 51651 broad.mit.edu 37 17 57775142 57775142 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr17:57775142C>T uc002ixt.3 - 1 323 c.198G>A c.(196-198)aaG>aaA p.K66K PTRH2_uc002ixs.3_Non-coding_Transcript NM_016077 NP_057161 Q9Y3E5 PTH2_HUMAN Homo sapiens peptidyl-tRNA hydrolase 2 (PTRH2), nuclear gene encoding mitochondrial protein, mRNA. 66 apoptosis|translation mitochondrion aminoacyl-tRNA hydrolase activity large_intestine(1) 1 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) CAAGAATCATCTTGTACTCCC 0.468000 62 37 0 0 1 0 0 PCSK5 5125 broad.mit.edu 37 9 78686707 78686707 + Missense_Mutation SNP C A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr9:78686707C>A uc004akc.2 + 6 1325 c.787C>A c.(787-789)Cag>Aag p.Q263K PCSK5_uc004ajy.2_Missense_Mutation_p.Q263K|PCSK5_uc004ajz.3_Missense_Mutation_p.Q263K|PCSK5_uc004aka.3_Non-coding_Transcript NM_001190482 NP_001177411 Q92824 PCSK5_HUMAN Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA. 263 Catalytic. anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release Golgi lumen|extracellular space|stored secretory granule peptide binding|serine-type endopeptidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 CTTCAACCCCCAGCACGTGCA 0.552000 92 61 7.38948e-41 7.66176e-41 1 1 0 LGR6 59352 broad.mit.edu 37 1 202279450 202279450 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:202279450C>T uc001gxu.3 + 15 1532 c.1532C>T c.(1531-1533)cCc>cTc p.P511L LGR6_uc001gxv.3_Missense_Mutation_p.P459L|LGR6_uc009xab.3_Non-coding_Transcript|LGR6_uc001gxw.3_Missense_Mutation_p.P372L NM_001017403 NP_001017403 Q9HBX8 LGR6_HUMAN Homo sapiens leucine-rich repeat containing G protein-coupled receptor 6 (LGR6), transcript variant 1, mRNA. 511 integral to membrane|plasma membrane protein-hormone receptor activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3) 36 TCAAAAAGGCCCCTGGGCCTC 0.582000 47 65 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 89925045 89925045 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr5:89925045G>A uc003kju.3 + 8 1624 c.1528G>A c.(1528-1530)Gat>Aat p.D510N GPR98_uc003kjt.3_5'UTR NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA. 510 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) CTACATTCAGGATAGTGATGA 0.338000 21 9 0 0 1 0 0 COL7A1 1294 broad.mit.edu 37 3 48626196 48626196 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr3:48626196G>A uc003ctz.2 - 18 2467 c.2466C>T c.(2464-2466)ctC>ctT p.L822L NM_000094 NP_000085 Q02388 CO7A1_HUMAN Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA. 822 Fibronectin type-III 7.|Nonhelical region (NC1). cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) TGTTTCCTGGGAGTATCTGGT 0.627000 59 19 0 0 1 0 0 TFEC 22797 broad.mit.edu 37 7 115624343 115624343 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr7:115624343C>T uc003vhj.2 - 1 406 c.153G>A c.(151-153)ggG>ggA p.G51G TFEC_uc003vhk.2_Silent_p.G51G|TFEC_uc003vhl.4_Silent_p.G51G|TFEC_uc011kmw.2_Silent_p.G141G NM_012252 NP_036384 O14948 TFEC_HUMAN Homo sapiens transcription factor EC (TFEC), transcript variant 1, mRNA. 51 Necessary for transcriptional transactivation. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2) 25 STAD - Stomach adenocarcinoma(10;0.00878) CATCTTCTTTCCCAATAGCTA 0.413000 117 31 0 0 1 0 0 XIRP1 165904 broad.mit.edu 37 3 39227900 39227900 + Nonsense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr3:39227900G>A uc003cjk.2 - 1 3266 c.3037C>T c.(3037-3039)Caa>Taa p.Q1013* XIRP1_uc003cji.3_Nonsense_Mutation_p.Q1013*|XIRP1_uc003cjj.3_Intron|XIRP1_uc021wvz.1_Nonsense_Mutation_p.Q1013* NM_194293 NP_919269 Q702N8 XIRP1_HUMAN Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA. 1013 actin binding breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6) 71 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) TTTTGCAATTGGGCTGGTGCT 0.597000 28 13 0 0 1 0 0 ATP4A 495 broad.mit.edu 37 19 36054387 36054387 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr19:36054387C>T uc002oal.1 - 1 84 c.55G>A c.(55-57)Ggc>Agc p.G19S NM_000704 NP_000695 P20648 ATP4A_HUMAN Homo sapiens ATPase, H+/K+ exchanging, alpha polypeptide (ATP4A), mRNA. 19 ATP biosynthetic process|ATP hydrolysis coupled proton transport integral to plasma membrane ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 53 all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831) ATGTCCCCGCCAGGGCCAGGA 0.582000 90 99 0 0 1 0 0 GBP5 115362 broad.mit.edu 37 1 89732143 89732143 + Missense_Mutation SNP G C C TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:89732143G>C uc001dnc.3 - 6 1291 c.754C>G c.(754-756)Cct>Gct p.P252A GBP5_uc001dnd.3_Missense_Mutation_p.P252A|GBP5_uc001dne.1_Missense_Mutation_p.P252A NM_052942 NP_443174 Q96PP8 GBP5_HUMAN Homo sapiens guanylate binding protein 5 (GBP5), transcript variant 1, mRNA. 252 plasma membrane GTP binding|GTPase activity breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1) 24 all cancers(265;0.00784)|Epithelial(280;0.0286) TCATCATCAGGCAGTGTTTCA 0.413000 91 34 0 0 1 0 0 FZD2 2535 broad.mit.edu 37 17 42636301 42636301 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr17:42636301C>T uc002igx.2 + 0 1490 c.1245C>T c.(1243-1245)ttC>ttT p.F415F NM_001466 NP_001457 Q14332 FZD2_HUMAN Homo sapiens frizzled family receptor 2 (FZD2), mRNA. 415 G-protein signaling, coupled to cGMP nucleotide second messenger|Wnt receptor signaling pathway, calcium modulating pathway|axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development apical part of cell|cytoplasm|integral to membrane|neuron projection membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8) 33 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.189) TGCGGGGCTTCGTGCTAGCGC 0.637000 90 32 0 0 1 0 0 CDC42EP3 10602 broad.mit.edu 37 2 37873216 37873216 + Nonsense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr2:37873216C>T uc021vfz.1 - 0 515 c.515G>A c.(514-516)tGg>tAg p.W172* CDC42EP3_uc002rqi.1_Nonsense_Mutation_p.W172* NM_006449 NP_006440 Q9UKI2 BORG2_HUMAN Homo sapiens CDC42 effector protein (Rho GTPase binding) 3 (CDC42EP3), mRNA. 172 regulation of cell shape|signal transduction actin cytoskeleton|cytoplasm|endomembrane system|membrane cytoskeletal regulatory protein binding p.S171S(1) endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1) 11 all_hematologic(82;0.172) GCTGGAGCCCCACGAGGTGTC 0.592000 79 29 0 0 1 0 0 GABRB2 2561 broad.mit.edu 37 5 160721269 160721269 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr5:160721269C>T uc003lys.1 - 10 1576 c.1358G>A c.(1357-1359)cGa>cAa p.R453Q GABRB2_uc011deh.1_Missense_Mutation_p.R254Q|GABRB2_uc003lyr.1_Missense_Mutation_p.R415Q|GABRB2_uc003lyt.1_Missense_Mutation_p.R415Q NM_021911 NP_068711 P47870 GBRB2_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 2 (GABRB2), transcript variant 1, mRNA. 453 gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane GABA-A receptor activity|chloride channel activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 26 Renal(175;0.00259) Medulloblastoma(196;0.021)|all_neural(177;0.0463) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) CAGAGCATTTCGGCCAAAACT 0.532000 58 20 0 0 1 0 0 CTNNAL1 8727 broad.mit.edu 37 9 111727724 111727724 + Nonsense_Mutation SNP C A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr9:111727724C>A uc004bdo.1 - 10 1567 c.1525G>T c.(1525-1527)Gaa>Taa p.E509* CTNNAL1_uc010mts.1_Nonsense_Mutation_p.E161*|CTNNAL1_uc004bdp.1_Nonsense_Mutation_p.E509* NM_003798 NP_003789 Q9UBT7 CTNL1_HUMAN Homo sapiens catenin (cadherin-associated protein), alpha-like 1 (CTNNAL1), mRNA. 509 Rho protein signal transduction|cell adhesion actin cytoskeleton|cytosol|plasma membrane cadherin binding|structural molecule activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2) 25 STAD - Stomach adenocarcinoma(157;0.0768) ATTTGGGATTCCCAAGCTTCA 0.348000 35 10 3.07112e-06 3.09865e-06 1 1 0 UGT3A1 133688 broad.mit.edu 37 5 35965695 35965695 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr5:35965695C>T uc003jjv.2 - 3 829 c.636G>A c.(634-636)agG>agA p.R212R UGT3A1_uc003jjw.2_Non-coding_Transcript|UGT3A1_uc011coq.2_Silent_p.R212R|UGT3A1_uc011cor.2_Silent_p.R178R|UGT3A1_uc003jjy.2_Silent_p.R158R NM_152404 NP_689617 Q6NUS8 UD3A1_HUMAN Homo sapiens UDP glycosyltransferase 3 family, polypeptide A1 (UGT3A1), transcript variant 1, mRNA. 212 integral to membrane glucuronosyltransferase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4) 46 all_lung(31;0.000197) Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) CCCATTGGCTCCTGGAGAAAC 0.463000 56 35 0 0 1 0 0 RAB37 326624 broad.mit.edu 37 17 72741160 72741160 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr17:72741160C>T uc010wrc.2 + 7 708 c.518C>T c.(517-519)cCc>cTc p.P173L RAB37_uc002jlc.2_3'UTR|RAB37_uc002jld.2_Missense_Mutation_p.P161L|RAB37_uc010dfu.3_Missense_Mutation_p.P161L|RAB37_uc010wrb.2_Missense_Mutation_p.P136L|RAB37_uc002jlk.3_Missense_Mutation_p.P168L|RAB37_uc010wre.2_Missense_Mutation_p.P131L NM_001163989 NP_001157461 Q96AX2 RAB37_HUMAN Homo sapiens RAB37, member RAS oncogene family (RAB37), transcript variant 4, mRNA. 168 protein transport|small GTPase mediated signal transduction ER-Golgi intermediate compartment GTP binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1) 12 TACGGTGTTCCCTTCCTGGAG 0.617000 OREG0024716 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 69 10 0 0 1 0 0 GCOM1 145781 broad.mit.edu 37 15 58004378 58004378 + Missense_Mutation SNP A T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr15:58004378A>T uc002aem.3 + 12 1632 c.1501A>T c.(1501-1503)Aat>Tat p.N501Y GCOM1_uc002aep.3_Non-coding_Transcript|GCOM1_uc010bfx.3_Non-coding_Transcript|GCOM1_uc002aeq.3_Non-coding_Transcript|GCOM1_uc002aen.3_Non-coding_Transcript|GCOM1_uc010bfy.3_Non-coding_Transcript|GCOM1_uc002aeo.3_Intron|GCOM1_uc002aes.3_Missense_Mutation_p.N88Y|GCOM1_uc010ugu.2_Non-coding_Transcript|GCOM1_uc002aet.4_Missense_Mutation_p.N319Y|GCOM1_uc002aeu.4_Missense_Mutation_p.N162Y NM_001018090 NP_001018100 P0CAP1 GCOM1_HUMAN Homo sapiens GRINL1A complex locus 1 (GCOM1), transcript variant 1, mRNA. 338 intracellular signal transduction I band|extrinsic to internal side of plasma membrane endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1) 18 GCAGAAACAGAATTATGAGGT 0.423000 37 14 0 0 1 0 0 SLC6A10P 386757 broad.mit.edu 37 16 32890622 32890622 + Missense_Mutation SNP T G G TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr16:32890622T>G uc002edh.1 - 4 440 c.264A>C c.(262-264)aaA>aaC p.K88N SLC6A10P_uc002edi.1_Non-coding_Transcript Homo sapiens solute carrier family 6 (neurotransmitter transporter, creatine), member 10, pseudogene (SLC6A10P), non-coding RNA. CGTTGGTGTTTTTGTAGACCA 0.617000 21 3 0 0 1 0 0 ST18 9705 broad.mit.edu 37 8 53045643 53045643 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr8:53045643C>T uc003xqz.2 - 15 2574 c.2418G>A c.(2416-2418)aaG>aaA p.K806K ST18_uc011ldq.1_Silent_p.K453K|ST18_uc011ldr.1_Silent_p.K771K|ST18_uc011lds.1_Silent_p.K711K|ST18_uc003xra.2_Silent_p.K806K NM_014682 NP_055497 O60284 ST18_HUMAN Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA. 806 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.T805T(1) NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) CTTTTTCTTCCTTGGTAGGGG 0.473000 71 43 0 0 1 0 0 RPS19 6223 broad.mit.edu 37 19 42364908 42364908 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr19:42364908C>T uc002ort.3 + 1 436 c.64C>T c.(64-66)Ctc>Ttc p.L22F NM_001022 NP_001013 P39019 RS19_HUMAN Homo sapiens ribosomal protein S19 (RPS19), mRNA. 22 endocrine pancreas development|erythrocyte differentiation|gas transport|positive regulation of cellular component movement|rRNA processing|response to extracellular stimulus|ribosomal small subunit biogenesis|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit|nucleolus RNA binding|protein binding|structural constituent of ribosome endometrium(1)|lung(1)|upper_aerodigestive_tract(1) 3 GGCAGCCTTCCTCAAAAAGTG 0.567000 Diamond-Blackfan Anemia 51 57 0 0 1 0 0 ABCA8 10351 broad.mit.edu 37 17 66872631 66872631 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr17:66872631C>T uc002jhq.3 - 34 4680 c.4340G>A c.(4339-4341)gGg>gAg p.G1447E ABCA8_uc002jhp.3_Missense_Mutation_p.G1407E|ABCA8_uc010wqq.2_Missense_Mutation_p.G1442E NM_007168 NP_009099 O94911 ABCA8_HUMAN Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA. 1407 ABC transporter 2. integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4) 83 Breast(10;4.56e-13) GGGGTCCATCCCGGTCGACGG 0.567000 66 50 0 0 1 0 0 ECE1 1889 broad.mit.edu 37 1 21546454 21546454 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:21546454G>A uc001bek.2 - 18 2382 c.2307C>T c.(2305-2307)gtC>gtT p.V769V ECE1_uc001bem.2_Silent_p.V753V|ECE1_uc001bej.2_Silent_p.V757V|ECE1_uc001bei.2_Silent_p.V766V|ECE1_uc010odl.1_Silent_p.V737V NM_001397 NP_001388 P42892 ECE1_HUMAN Homo sapiens endothelin converting enzyme 1 (ECE1), transcript variant 1, mRNA. 769 bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process Weibel-Palade body|early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane metal ion binding|metalloendopeptidase activity|protein homodimerization activity endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1) 25 Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206) GTCCTTACCAGACTTCGCACT 0.622000 26 18 0 0 1 0 0 SVEP1 79987 broad.mit.edu 37 9 113149577 113149577 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr9:113149577G>A uc010mtz.3 - 41 10385 c.10048C>T c.(10048-10050)Cct>Tct p.P3350S SVEP1_uc010mty.3_Missense_Mutation_p.P1276S NM_153366 NP_699197 Q4LDE5 SVEP1_HUMAN Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA. 3350 Sushi 32. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding p.S3349N(1) NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 TTGCAGAGAGGGACTGGGTGG 0.483000 39 28 0 0 1 0 0 MAN2B2 23324 broad.mit.edu 37 4 6596420 6596420 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr4:6596420C>T uc003gjf.1 + 6 1054 c.1018C>T c.(1018-1020)Cgt>Tgt p.R340C MAN2B2_uc003gje.1_Missense_Mutation_p.R340C|MAN2B2_uc011bwf.1_Missense_Mutation_p.R289C NM_015274 NP_056089 Q9Y2E5 MA2B2_HUMAN Homo sapiens mannosidase, alpha, class 2B, member 2 (MAN2B2), mRNA. 340 mannose metabolic process extracellular region alpha-mannosidase activity|carbohydrate binding|zinc ion binding breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1) 30 TGTCACCTGGCGTGTCCGCGA 0.617000 39 13 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92616090 92616090 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr11:92616090C>T uc001pdj.4 + 22 12485 c.12468C>T c.(12466-12468)atC>atT p.I4156I FAT3_uc001pdi.4_Silent_p.I596I NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA. 4156 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) AGGAGCTCATCGGCATCGCCG 0.592000 TCGA Ovarian(4;0.039) 10 11 0 0 1 0 0 SYNM 23336 broad.mit.edu 37 15 99672948 99672948 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr15:99672948C>T uc002bup.3 + 4 4500 c.4380C>T c.(4378-4380)acC>acT p.T1460T SYNM_uc002buo.3_Intron|SYNM_uc002buq.3_Intron NM_145728 NP_663780 O15061 SYNEM_HUMAN Homo sapiens synemin, intermediate filament protein (SYNM), transcript variant A, mRNA. 1461 Interaction with DMD and UTRN.|Interaction with TLN1 and VCL.|Tail. intermediate filament cytoskeleton organization adherens junction|costamere|intermediate filament|neurofilament cytoskeleton intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 29 CTTCGTTTACCTTTCAGATGG 0.567000 192 55 0 0 1 0 0 GNE 10020 broad.mit.edu 37 9 36227307 36227307 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr9:36227307G>A uc010mlh.3 - 6 1440 c.1219C>T c.(1219-1221)Cta>Tta p.L407L GNE_uc010mlg.3_Silent_p.L407L|GNE_uc011lpl.2_Silent_p.L297L|GNE_uc010mli.3_Silent_p.L438L|GNE_uc010mlj.3_Silent_p.L402L NM_005476 NP_005467 Q9Y223 GLCNE_HUMAN Homo sapiens glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase (GNE), transcript variant 2, mRNA. 407 N-acetylmannosamine kinase. N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process|cell adhesion|lipopolysaccharide biosynthetic process ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 STAD - Stomach adenocarcinoma(86;0.228) AAGGCACTTAGAGTTTCAAGA 0.408000 22 12 0 0 1 0 0 ANAPC5 51433 broad.mit.edu 37 12 121747651 121747651 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr12:121747651G>A uc001uag.3 - 15 2031 c.1909C>T c.(1909-1911)Cca>Tca p.P637S ANAPC5_uc010szu.2_Missense_Mutation_p.P303S|ANAPC5_uc001uae.3_Missense_Mutation_p.P201S|ANAPC5_uc010szv.2_Missense_Mutation_p.P239S|ANAPC5_uc001uaf.3_Non-coding_Transcript|ANAPC5_uc001uah.3_Missense_Mutation_p.P525S NM_016237 NP_057321 Q9UJX4 APC5_HUMAN Homo sapiens anaphase promoting complex subunit 5 (ANAPC5), transcript variant 1, mRNA. 637 G2/M transition of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm protein phosphatase binding|ubiquitin-protein ligase activity breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3) 31 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) GCCTGTTCTGGGATTCCAAGA 0.507000 63 42 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11532833 11532833 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr17:11532833G>A uc002gne.3 + 6 1518 c.1450G>A c.(1450-1452)Gaa>Aaa p.E484K NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA. 484 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) GCAAATGCATGAAGAATTTCA 0.542000 103 47 0 0 1 0 0 PRPH2 5961 broad.mit.edu 37 6 42666229 42666229 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr6:42666229C>T uc003osk.3 - 2 1131 c.845G>A c.(844-846)gGg>gAg p.G282E NM_000322 NP_000313 P23942 PRPH2_HUMAN Homo sapiens peripherin 2 (retinal degeneration, slow) (PRPH2), mRNA. 282 cell adhesion|visual perception integral to membrane NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1) 18 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904) GTAGCGCAGCCCAATTGTAAT 0.577000 42 50 0 0 1 0 0 GSK3B 2932 broad.mit.edu 37 3 119634959 119634959 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr3:119634959C>T uc003edo.3 - 4 1523 c.540G>A c.(538-540)cgG>cgA p.R180R GSK3B_uc003edn.3_Silent_p.R180R NM_001146156 NP_001139628 P49841 GSK3B_HUMAN Homo sapiens glycogen synthase kinase 3 beta (GSK3B), transcript variant 2, mRNA. 180 Protein kinase. ER overload response|axon guidance|epithelial to mesenchymal transition|glycogen metabolic process|hippocampus development|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|positive regulation of Rac GTPase activity|positive regulation of cell-matrix adhesion|positive regulation of protein complex assembly|positive regulation of protein export from nucleus|regulation of microtubule-based process|superior temporal gyrus development Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|nucleus|plasma membrane ATP binding|NF-kappaB binding|RNA polymerase II transcription factor binding|beta-catenin binding|p53 binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin protein ligase binding p.R180Q(1) endometrium(1)|large_intestine(8)|lung(7)|prostate(2) 18 GBM - Glioblastoma multiforme(114;0.24) Lithium(DB01356) GTTTAATATCCCGATGGCAGA 0.408000 20 15 0 0 1 0 0 FOLR2 2350 broad.mit.edu 37 11 71932097 71932097 + Nonsense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr11:71932097C>T uc009yte.3 + 2 497 c.334C>T c.(334-336)Cag>Tag p.Q112* FOLR2_uc009ytf.3_Nonsense_Mutation_p.Q112*|FOLR2_uc009ytd.3_Nonsense_Mutation_p.Q112*|FOLR2_uc001ose.4_Nonsense_Mutation_p.Q112* NM_001113535 NP_001107008 P14207 FOLR2_HUMAN Homo sapiens folate receptor 2 (fetal) (FOLR2), transcript variant 3, mRNA. 112 IQ -> VR (in Ref. 4; AA sequence). folic acid transport anchored to membrane|extracellular region|membrane fraction|plasma membrane folic acid binding|receptor activity breast(3)|large_intestine(3)|ovary(1)|skin(1) 8 Folic Acid(DB00158) GCCCTGGATCCAGCAGGTAGG 0.637000 1 18 0 0 1 0 0 KCNB2 9312 broad.mit.edu 37 8 73848929 73848929 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr8:73848929G>A uc003xzb.3 + 2 1927 c.1339G>A c.(1339-1341)Gga>Aga p.G447R NM_004770 NP_004761 Q92953 KCNB2_HUMAN Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA. 447 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) CAAAAGGAACGGAAGCATCGT 0.453000 65 60 0 0 1 0 0 TBC1D25 4943 broad.mit.edu 37 X 48419064 48419064 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chrX:48419064C>T uc011mmb.1 + 5 1866 c.1780C>T c.(1780-1782)Ccg>Tcg p.P594S TBC1D25_uc004dka.1_Missense_Mutation_p.P590S|TBC1D25_uc011mly.1_Missense_Mutation_p.P532S|TBC1D25_uc004dkb.1_Missense_Mutation_p.P336S|TBC1D25_uc011mlz.1_Missense_Mutation_p.P336S|TBC1D25_uc011mma.1_Missense_Mutation_p.P336S|TBC1D25_uc004dkc.1_Missense_Mutation_p.P336S|TBC1D25_uc011mmd.1_Missense_Mutation_p.P336S|TBC1D25_uc011mmc.1_Missense_Mutation_p.P336S NM_002536 NP_002527 Q3MII6 TBC25_HUMAN Homo sapiens TBC1 domain family, member 25 (TBC1D25), mRNA. 590 intracellular Rab GTPase activator activity large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 4 GGTAGGCTCCCCGAAAGACCC 0.602000 14 84 0 0 1 0 0 PLB1 151056 broad.mit.edu 37 2 28825788 28825788 + Splice_Site SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr2:28825788G>A uc002rmb.2 + 39 2818 c.2774_splice c.e39+1 p.S925_splice PLB1_uc010ezj.2_Splice_Site_p.S914_splice|PLB1_uc002rme.2_Splice_Site NM_153021 NP_694566 Q6P1J6 PLB1_HUMAN Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA. 925 4 X 308-326 AA approximate repeats. lipid catabolic process|retinoid metabolic process|steroid metabolic process apical plasma membrane|integral to membrane lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2) 69 Acute lymphoblastic leukemia(172;0.155) CAGCAGGCCAGGTAGGCAGGT 0.597000 35 41 0 0 1 0 0 ZDHHC14 79683 broad.mit.edu 37 6 158074587 158074587 + Silent SNP C G G TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr6:158074587C>G uc003qqt.3 + 7 1493 c.996C>G c.(994-996)ccC>ccG p.P332P ZDHHC14_uc003qqs.3_Silent_p.P332P|ZDHHC14_uc010kjn.3_5'UTR NM_024630 NP_078906 Q8IZN3 ZDH14_HUMAN Homo sapiens zinc finger, DHHC-type containing 14 (ZDHHC14), transcript variant 1, mRNA. 332 integral to membrane acyltransferase activity|zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1) 17 Breast(66;0.00586)|Ovarian(120;0.123) OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05) ACATCCAGCCCGACACGCCGC 0.567000 49 11 0 0 1 0 0 SYT3 84258 broad.mit.edu 37 19 51132559 51132559 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr19:51132559C>T uc002pst.3 - 3 1907 c.1273G>A c.(1273-1275)Ggc>Agc p.G425S SYT3_uc002psv.3_Missense_Mutation_p.G425S|SYT3_uc010ycd.2_Missense_Mutation_p.G425S NM_032298 NP_115674 Q9BQG1 SYT3_HUMAN Homo sapiens synaptotagmin III (SYT3), transcript variant 1, mRNA. 425 cell junction|endosome|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity p.G425D(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2) 35 all_neural(266;0.131) OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188) ACCGAGCCGCCCTCCACGATG 0.682000 24 3 0 0 1 0 0 SIL1 64374 broad.mit.edu 37 5 138362517 138362517 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr5:138362517G>A uc003ldo.3 - 6 824 c.618C>T c.(616-618)ctC>ctT p.L206L SIL1_uc003ldp.3_Silent_p.L206L|SIL1_uc003ldq.1_Intron NM_001037633 NP_071909 Q9H173 SIL1_HUMAN Homo sapiens SIL1 homolog, endoplasmic reticulum chaperone (S. cerevisiae) (SIL1), transcript variant 1, mRNA. 206 Interaction with HSPA5 and localization to the endoplasmic reticulum (By similarity). intracellular protein transport|protein folding|transmembrane transport endoplasmic reticulum lumen unfolded protein binding endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1) 13 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) CAAGATCAAAGAGCGCAGCAA 0.413000 Marinesco-Sjgren syndrome 56 22 0 0 1 0 0 JPH3 57338 broad.mit.edu 37 16 87678075 87678075 + Silent SNP C T T rs138715600 byFrequency TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr16:87678075C>T uc002fkd.3 + 1 848 c.594C>T c.(592-594)ctC>ctT p.L198L JPH3_uc010vou.1_Non-coding_Transcript NM_020655 NP_065706 Q8WXH2 JPH3_HUMAN Homo sapiens junctophilin 3 (JPH3), mRNA. 198 calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 30 BRCA - Breast invasive adenocarcinoma(80;0.0287) GCTTCGTGCTCGTGGCCCACA 0.682000 51 65 0 0 1 0 0 RC3H2 54542 broad.mit.edu 37 9 125616864 125616864 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr9:125616864G>A uc010mwc.1 - 15 3087 c.2846C>T c.(2845-2847)tCa>tTa p.S949L RC3H2_uc004bnc.2_Non-coding_Transcript|RC3H2_uc004bnd.1_Missense_Mutation_p.S949L|RC3H2_uc004bne.4_Missense_Mutation_p.S949L NM_001100588 NP_001094058 Q9HBD1 RC3H2_HUMAN Homo sapiens ring finger and CCCH-type domains 2 (RC3H2), transcript variant 1, mRNA. 949 cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 33 ACTCCACCTTGAATCAACAGC 0.368000 29 18 0 0 1 0 0 BRPF3 27154 broad.mit.edu 37 6 36178151 36178151 + Silent SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr6:36178151C>T uc003olv.4 + 5 2249 c.2025C>T c.(2023-2025)ttC>ttT p.F675F BRPF3_uc010jwb.3_Silent_p.F675F|BRPF3_uc011dtj.2_Non-coding_Transcript|BRPF3_uc010jwc.3_Non-coding_Transcript|BRPF3_uc011dtk.2_Silent_p.F675F NM_015695 NP_056510 Q9ULD4 BRPF3_HUMAN Homo sapiens bromodomain and PHD finger containing, 3 (BRPF3), mRNA. 675 Bromo. histone H3 acetylation|platelet activation|platelet degranulation MOZ/MORF histone acetyltransferase complex|cytosol|extracellular region protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2) 40 ACACAATTTTCCACCGAGCAG 0.572000 57 64 0 0 1 0 0 LMAN1L 79748 broad.mit.edu 37 15 75114983 75114983 + Splice_Site SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr15:75114983G>A uc002ayt.1 + 11 1134 c.1132_splice c.e11-1 p.D378_splice LMAN1L_uc010bke.1_Splice_Site_p.D366_splice|CPLX3_uc002ayu.1_5'Flank NM_021819 NP_068591 Q9HAT1 LMA1L_HUMAN Homo sapiens lectin, mannose-binding, 1 like (LMAN1L), mRNA. 378 ER-Golgi intermediate compartment membrane|integral to membrane sugar binding NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 CCCTCTGCAGGACTCTGCCAA 0.637000 34 11 0 0 1 0 0 CAPSL 133690 broad.mit.edu 37 5 35910093 35910093 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr5:35910093C>T uc003jjt.1 - 3 495 c.400G>A c.(400-402)Gaa>Aaa p.E134K CAPSL_uc003jju.1_Missense_Mutation_p.E134K NM_001042625 NP_653248 Q8WWF8 CAPSL_HUMAN Homo sapiens calcyphosine-like (CAPSL), transcript variant 2, mRNA. 134 EF-hand 3. cytoplasm calcium ion binding central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1) 19 all_lung(31;0.000268) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202) CGAAGGTCTTCGATTGTTATA 0.383000 61 37 0 0 1 0 0 ADAM30 11085 broad.mit.edu 37 1 120437028 120437028 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:120437028G>A uc001eij.3 - 0 2120 c.1932C>T c.(1930-1932)tgC>tgT p.C644C NM_021794 NP_068566 Q9UKF2 ADA30_HUMAN Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA. 644 EGF-like. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2) 38 all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234) all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138) Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117) TTCTGTTGTTGCAAACACCCC 0.498000 41 11 0 0 1 0 0 LDB1 8861 broad.mit.edu 37 10 103869144 103869145 + Missense_Mutation DNP GG AA AA TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr10:103869144_103869145GG>AA uc009xwz.3 - 8 1195_1196 c.852_853CC>TT c.(850-855)ccccct>ccTTct p.P285S LDB1_uc001kuk.4_Missense_Mutation_p.P249S|LDB1_uc001kul.3_Missense_Mutation_p.P249S NM_001113407 NP_003884 Q86U70 LDB1_HUMAN Homo sapiens LIM domain binding 1 (LDB1), transcript variant 1, mRNA. 285 histone H3-K4 acetylation|negative regulation of erythrocyte differentiation|negative regulation of transcription, DNA-dependent|positive regulation of hemoglobin biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription elongation, DNA-dependent|transcription, DNA-dependent|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery nuclear chromatin|protein complex LIM domain binding|protein homodimerization activity|transcription corepressor activity breast(1)|central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1) 21 Colorectal(252;0.122) Epithelial(162;1.11e-07)|all cancers(201;1.82e-06) CACTCACCAGGGGGTGCTACCA 0.554000 13 16 0 0 1 0 0 DENND2A 27147 broad.mit.edu 37 7 140273704 140273705 + Missense_Mutation DNP GG AA AA TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr7:140273704_140273705GG>AA uc010lnk.3 - 5 1869_1870 c.1349_1350CC>TT c.(1348-1350)tcc>tTT p.S450F DENND2A_uc011kre.2_Non-coding_Transcript|DENND2A_uc010lnj.3_Missense_Mutation_p.S450F|DENND2A_uc003vvw.3_Missense_Mutation_p.S450F|DENND2A_uc003vvx.3_Missense_Mutation_p.S450F NM_015689 NP_056504 Q9ULE3 DEN2A_HUMAN Homo sapiens DENN/MADD domain containing 2A (DENND2A), mRNA. 450 breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Melanoma(164;0.00956) GGCTGATTTTGGAAGGGGACCC 0.495000 199 50 0 0 1 0 0 PTPRM 5797 broad.mit.edu 37 18 8378333 8378333 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr18:8378333C>T uc002knn.4 + 24 3997 c.3494C>T c.(3493-3495)tCc>tTc p.S1165F PTPRM_uc010dkv.3_Missense_Mutation_p.S1178F|PTPRM_uc010wzl.2_Missense_Mutation_p.S952F NM_002845 NP_002836 P28827 PTPRM_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, M (PTPRM), transcript variant 2, mRNA. 1165 homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm cadherin binding|transmembrane receptor protein tyrosine phosphatase activity breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 90 Colorectal(10;0.234) GTGCCTGCTTCCCAAGTTAGG 0.478000 35 20 0 0 1 0 0 KCNA5 3741 broad.mit.edu 37 12 5153723 5153723 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr12:5153723C>T uc001qni.3 + 0 639 c.410C>T c.(409-411)aCc>aTc p.T137I NM_002234 NP_002225 P22460 KCNA5_HUMAN Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 5 (KCNA5), mRNA. 137 Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2) 52 CAGCTGGGCACCCTGGCGCAG 0.677000 39 35 0 0 1 0 0 EPRS 2058 broad.mit.edu 37 1 220162041 220162041 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:220162041C>T uc001hly.1 - 18 2936 c.2666G>A c.(2665-2667)aGa>aAa p.R889K RNU5F-1_uc021pjd.1_Intron|EPRS_uc010puf.1_Missense_Mutation_p.R640K|EPRS_uc001hlz.1_Missense_Mutation_p.R896K NM_004446 NP_004437 P07814 SYEP_HUMAN Homo sapiens glutamyl-prolyl-tRNA synthetase (EPRS), mRNA. 889 3 X 57 AA approximate repeats. glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly cytosol|soluble fraction ATP binding|RNA binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3) 63 GBM - Glioblastoma multiforme(131;0.0735) L-Glutamic Acid(DB00142)|L-Proline(DB00172) TTCAGAATTTCTGGTTGGGCT 0.418000 59 61 0 0 1 0 0 STK24 8428 broad.mit.edu 37 13 99171532 99171532 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr13:99171532G>A uc001vnm.1 - 1 509 c.274C>T c.(274-276)Cca>Tca p.P92S STK24_uc001vnn.1_Missense_Mutation_p.P80S|STK24_uc010tim.1_Missense_Mutation_p.P80S NM_003576 NP_003567 Q9Y6E0 STK24_HUMAN Homo sapiens serine/threonine kinase 24 (STK24), transcript variant 1, mRNA. 92 Protein kinase. cellular component disassembly involved in apoptosis|signal transduction cytosol|nucleoplasm ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1) 17 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.233) GTTACATATGGACTGTCACAC 0.433000 105 72 0 0 1 0 0 PLXNB1 5364 broad.mit.edu 37 3 48455200 48455200 + Silent SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr3:48455200G>A uc003csw.2 - 22 4684 c.4414C>T c.(4414-4416)Ctg>Ttg p.L1472L PLXNB1_uc003cst.2_5'UTR|PLXNB1_uc003csu.2_Silent_p.L1289L|PLXNB1_uc003csx.2_Silent_p.L1472L|PLXNB1_uc010hjx.1_Non-coding_Transcript NM_002673 NP_002664 O43157 PLXB1_HUMAN Homo sapiens plexin B1 (PLXNB1), transcript variant 1, mRNA. 1472 axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) ACGTGACCCAGGGAGAAGCGC 0.642000 30 14 0 0 1 0 0 SGK223 157285 broad.mit.edu 37 8 8185909 8185909 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr8:8185909G>A uc003wsh.4 - 3 2383 c.2383C>T c.(2383-2385)Cct>Tct p.P795S NM_001080826 NP_001074295 Q86YV5 SG223_HUMAN Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA. 795 ATP binding|non-membrane spanning protein tyrosine kinase activity GAGCCTGAAGGAAACGGAACG 0.602000 54 35 0 0 1 0 0 KIAA0494 9813 broad.mit.edu 37 1 47130937 47130937 + Missense_Mutation SNP C A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:47130937C>A uc010omh.1 - 9 2197 c.1220G>T c.(1219-1221)tGg>tTg p.W407L ATPAF1_uc009vyk.3_5'UTR|ATPAF1_uc010omg.2_Silent_p.V34V|ATPAF1_uc001cqh.3_Silent_p.V122V|ATPAF1_uc001cqi.3_Silent_p.V122V NM_014774 NP_055589 O75071 K0494_HUMAN Homo sapiens KIAA0494 (KIAA0494), mRNA. 460 calcium ion binding endometrium(1)|large_intestine(1)|lung(4)|prostate(1) 7 Acute lymphoblastic leukemia(166;0.155) CCTTCTGTTCCACACATTTGA 0.493000 30 29 5.8336e-16 5.94511e-16 1 1 0 TEK 7010 broad.mit.edu 37 9 27229199 27229199 + Missense_Mutation SNP G A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr9:27229199G>A uc011lno.2 + 21 3657 c.3215G>A c.(3214-3216)gGa>gAa p.G1072E TEK_uc003zqi.4_Missense_Mutation_p.G1115E|TEK_uc011lnp.2_Missense_Mutation_p.G967E NM_000459 NP_000450 Q02763 TIE2_HUMAN Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA. 1115 Protein kinase. angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3) 15 all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255) Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027) ACTTATGCAGGAATTGACTGT 0.468000 57 24 0 0 1 0 0 ALDH3B2 222 broad.mit.edu 37 11 67432876 67432877 + Nonsense_Mutation DNP GG AC AC TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr11:67432876_67432877GG>AC uc001omr.3 - 6 1024_1025 c.585_586CC>GT c.(583-588)ccccag>ccGTag p.Q196* ALDH3B2_uc001oms.3_Nonsense_Mutation_p.Q196*|ALDH3B2_uc009ysa.1_Nonsense_Mutation_p.Q196* NM_000695 NP_001026786 P48448 AL3B2_HUMAN Homo sapiens aldehyde dehydrogenase 3 family, member B2 (ALDH3B2), transcript variant 1, mRNA. 196 alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process 3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1) 18 NADH(DB00157) GGGGAGCTCTGGGGGTCGTCGC 0.653000 34 56 0 0 1 0 0 MGC72080 389538 broad.mit.edu 37 7 97599113 97599114 + RNA DNP GG AA AA TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr7:97599113_97599114GG>AA uc010lfp.1 - 1 c.253_254CC>TT MGC72080_uc003upa.1_Non-coding_Transcript|MGC72080_uc003upb.1_Non-coding_Transcript Homo sapiens MGC72080 pseudogene (MGC72080), non-coding RNA. TTCAATAACTGGTTTTCCATCT 0.282000 48 20 0 0 1 0 0 TELO2 9894 broad.mit.edu 37 16 1555462 1555462 + Missense_Mutation SNP A T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr16:1555462A>T uc002cly.3 + 15 2185 c.1894A>T c.(1894-1896)Act>Tct p.T632S NM_016111 NP_057195 Q9Y4R8 TELO2_HUMAN Homo sapiens TEL2, telomere maintenance 2, homolog (S. cerevisiae) (TELO2), mRNA. 632 chromosome, telomeric region|cytoplasm|membrane|nucleus protein binding NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 19 Hepatocellular(780;0.219) CCTCGGGAGGACTCCCCAACC 0.682000 50 30 0 0 1 0 0 C9orf9 11092 broad.mit.edu 37 9 135759383 135759383 + Missense_Mutation SNP C T T TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr9:135759383C>T uc004cbz.1 + 1 198 c.49C>T c.(49-51)Ctc>Ttc p.L17F C9orf9_uc004cbx.1_Missense_Mutation_p.L17F|C9orf9_uc004cby.1_Missense_Mutation_p.L17F NM_018956 NP_061829 Q96E40 CI009_HUMAN Homo sapiens chromosome 9 open reading frame 9 (C9orf9), mRNA. 17 p.?(1) cervix(1)|large_intestine(1)|lung(1)|prostate(1) 4 OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|GBM - Glioblastoma multiforme(294;4.84e-07)|Epithelial(140;1.28e-06) GAAGTACAAGCTCTTCCAGCA 0.547000 43 28 0 0 1 0 0 SPEN 23013 broad.mit.edu 37 1 16259066 16259067 + Frame_Shift_Del DEL GA - - TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr1:16259066_16259067delGA uc001axk.1 + 10 6535_6536 c.6331_6332delGA c.(6331-6333)gagfs p.E2111fs SPEN_uc010obp.1_Frame_Shift_Del_p.E2070fs NM_015001 NP_055816 Q96T58 MINT_HUMAN Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA. 2111 Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent nucleus RNA binding|nucleotide binding|protein binding NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) ACAGGCAGGGGAGAGGGAATCT 0.520 --- 149 --- --- 48 --- GFM2 84340 broad.mit.edu 37 5 74032630 74032631 + Frame_Shift_Ins INS - A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr5:74032630_74032631insA uc010izj.1 - 15 1922_1923 c.1596_1597insT c.(1594-1599)tctaagfs p.S532fs GFM2_uc003kdh.1_Frame_Shift_Ins_p.S500fs|GFM2_uc003kdi.1_Frame_Shift_Ins_p.S453fs|GFM2_uc010izk.1_Non-coding_Transcript|GFM2_uc003kdj.1_Frame_Shift_Ins_p.S500fs NM_032380 NP_115756 Q969S9 RRF2M_HUMAN Homo sapiens G elongation factor, mitochondrial 2 (GFM2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 500 mitochondrial translation|ribosome disassembly mitochondrion GTP binding|GTPase activity p.C533C(1) 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) CCTGGCTGCTTAGACAGTGATG 0.381 --- 70 --- --- 43 --- SSPO 23145 broad.mit.edu 37 7 149518533 149518533 + Frame_Shift_Del DEL C - - rs11353848 TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr7:149518533delC uc010lpk.3 + 87 12593 c.12593delC c.(12592-12594)tccfs p.S4198fs SSPO_uc010lpm.1_5'Flank|SSPO_uc003wgg.2_5'Flank|SSPO_uc003wgh.2_5'Flank|SSPO_uc003wgi.1_5'Flank NM_198455 NP_940857 A2VEC9 SSPO_HUMAN Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA. 4201 TSP type-1 19. cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GAGGAGCAGTCCCAGAGCCAG 0.711 --- 4 --- --- 3 --- CNNM1 26507 broad.mit.edu 37 10 101120631 101120631 + Frame_Shift_Del DEL G - - TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr10:101120631delG uc010qpi.2 + 2 2046 c.1757delG c.(1756-1758)cggfs p.R586fs CNNM1_uc009xwe.3_Frame_Shift_Del_p.R586fs|CNNM1_uc001kpp.4_Frame_Shift_Del_p.R586fs|CNNM1_uc009xwf.3_Frame_Shift_Del_p.R586fs|CNNM1_uc009xwg.3_5'UTR NM_020348 NP_065081 Q9NRU3 CNNM1_HUMAN Homo sapiens cyclin M1 (CNNM1), mRNA. 586 ion transport integral to membrane|plasma membrane NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1) 25 Colorectal(252;0.234) Epithelial(162;6.82e-10)|all cancers(201;5.62e-08) CAACGGGAGCGGAAGCGGCAT 0.527 --- 31 --- --- 50 --- LOC619207 619207 broad.mit.edu 37 10 135273523 135273523 + Frame_Shift_Del DEL G - - TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr10:135273523delG uc001lnh.1 + 3 2729 c.831delG c.(829-831)ctgfs p.L277fs LOC619207_uc001lng.3_Non-coding_Transcript Homo sapiens scavenger receptor protein family member (LOC619207), non-coding RNA. TGAGCGCCCTGGGGGCCGCAC 0.751 --- 4 --- --- 2 --- OR56A1 120796 broad.mit.edu 37 11 6048297 6048297 + Frame_Shift_Del DEL A - - TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr11:6048297delA uc010qzw.2 - 0 675 c.638delT c.(637-639)ttgfs p.L213fs NM_001001917 NP_001001917 Q8NGH5 O56A1_HUMAN Homo sapiens olfactory receptor, family 56, subfamily A, member 1 (OR56A1), mRNA. 213 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2) 33 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGAGCCCAGCAAGGTCCAACC 0.483 --- 22 --- --- 43 --- CUL5 8065 broad.mit.edu 37 11 107966294 107966300 + Frame_Shift_Del DEL AGGTAAC - - TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr11:107966294_107966300delAGGTAAC uc001pjv.3 + 15 2448_2454 c.1781_1787delAGGTAAC c.(1780-1788)gaggtaaccfs p.E594fs CUL5_uc001pju.3_Non-coding_Transcript NM_003478 NP_003469 Q93034 CUL5_HUMAN Homo sapiens cullin 5 (CUL5), mRNA. 594 G1/S transition of mitotic cell cycle|cell cycle arrest|cell proliferation|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction cullin-RING ubiquitin ligase complex|cytosol calcium channel activity|receptor activity|ubiquitin protein ligase binding endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1) 23 all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217) TATGATTTGGAGGTAACCACGTTTCAG 0.338 --- 31 --- --- 14 --- SNX19 399979 broad.mit.edu 37 11 130785392 130785392 + Frame_Shift_Del DEL A - - TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr11:130785392delA uc001qgk.4 - 0 991 c.443delT c.(442-444)gtgfs p.V148fs SNX19_uc010sce.2_Intron|SNX19_uc010scf.2_Intron|SNX19_uc010scg.2_Intron|SNX19_uc001qgl.3_Frame_Shift_Del_p.V148fs|SNX19_uc009zcx.1_Intron NM_014758 NP_055573 Q92543 SNX19_HUMAN Homo sapiens sorting nexin 19 (SNX19), mRNA. 148 PXA. cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding|protein binding central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1) 35 all_hematologic(175;0.0597) Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425) OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233) ACTGTCCATCACGCTCATCCT 0.542 --- 9 --- --- 28 --- DICER1 23405 broad.mit.edu 37 14 95597909 95597914 + In_Frame_Del DEL TGAGTA - - TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr14:95597909_95597914delTGAGTA uc001ydw.2 - 4 582_587 c.370_375delTACTCA c.(370-375)tactcadel p.YS124del DICER1_uc021sbc.1_In_Frame_Del_p.YS124del|DICER1_uc001ydv.2_In_Frame_Del_p.YS114del|DICER1_uc001ydx.2_In_Frame_Del_p.YS124del NM_030621 NP_803187 Q9UPY3 DICER_HUMAN Homo sapiens dicer 1, ribonuclease type III (DICER1), transcript variant 2, mRNA. 124 Helicase ATP-binding. negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of Schwann cell differentiation|positive regulation of myelination|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference RNA-induced silencing complex|cytosol ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3) 75 all_cancers(154;0.0621)|all_epithelial(191;0.223) Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215) CTTCTAGGTTTGAGTATTCCCCAACC 0.364 """Mis F, N""" """sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma""" pleuropulmonary blastoma Familial Multinodular Goiter ;DICER 1 syndrome --- 46 --- --- 13 --- HDGFRP2 84717 broad.mit.edu 37 19 4491823 4491824 + Frame_Shift_Ins INS - A A TCGA-D3-A5GU-06A-11D-A27K-08 TCGA-D3-A5GU-10A-01D-A27N-08 Untested Somatic Phase_I WXS none Illumina GAIIx 547743a7-1678-45a8-b744-42d628175cf1 74d1fe18-3d65-4c42-a56b-3d2c19d4cf75 g.chr19:4491823_4491824insA uc002mao.3 + 5 762_763 c.669_670insA c.(667-672)cggaaafs p.R223fs HDGFRP2_uc002map.3_Frame_Shift_Ins_p.R223fs|HDGFRP2_uc010dtz.1_Non-coding_Transcript NM_001001520 NP_001001520 Q7Z4V5 HDGR2_HUMAN Homo sapiens hepatoma-derived growth factor-related protein 2 (HDGFRP2), transcript variant 1, mRNA. 223 Ser-rich. transcription, DNA-dependent nucleus DNA binding|protein binding TGGGGGGACGGAAAAAAAAGGT 0.634 --- 82 --- --- 34 ---