Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut AP4E1 23431 broad.mit.edu 37 15 51223057 51223057 + Missense_Mutation SNP A A C TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr15:51223057A>C ENST00000261842.5 + 7 864 c.758A>C c.(757-759)cAa>cCa p.Q253P AP4E1_ENST00000560508.1_Missense_Mutation_p.Q178P NM_001252127.1|NM_007347.4 NP_001239056.1|NP_031373.2 Q9UPM8 AP4E1_HUMAN adaptor-related protein complex 4, epsilon 1 subunit 253 intracellular protein transport|vesicle-mediated transport COPI vesicle coat binding|structural molecule activity breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2) 27 all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364) ATTTTGAAGCAAGTAGTTGGA 0.388000 5 49 0 0 0.184627 0 0 APC 324 broad.mit.edu 37 5 112176102 112176102 + Missense_Mutation SNP C C T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr5:112176102C>T ENST00000457016.1 + 16 5191 c.4811C>T c.(4810-4812)cCt>cTt p.P1604L CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.P1604L|APC_ENST00000508376.2_Missense_Mutation_p.P1604L P25054 APC_HUMAN adenomatous polyposis coli 1604 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 adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|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.K1192fs*3(1)|p.?(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) TTACCTCCACCTGTGGCAAGG 0.423000 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) 36 177 0 0 0.225048 0 0 SCML1 6322 broad.mit.edu 37 X 17771464 17771464 + Silent SNP A A G TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chrX:17771464A>G ENST00000380043.3 + 7 1189 c.861A>G c.(859-861)ctA>ctG p.L287L SCML1_ENST00000380041.3_Silent_p.L314L|SCML1_ENST00000398080.1_Silent_p.L193L|SCML1_ENST00000380045.3_Silent_p.L193L NM_006746.4 NP_006737.2 Q9UN30 SCML1_HUMAN sex comb on midleg-like 1 (Drosophila) 314 SAM. anatomical structure morphogenesis nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|ovary(1) 10 Hepatocellular(33;0.183) CTGTGAAGCTATGCTACTACA 0.458000 16 38 0 0 0.175082 0 0 CMYA5 202333 broad.mit.edu 37 5 79029704 79029704 + Missense_Mutation SNP G G A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr5:79029704G>A ENST00000446378.2 + 2 5147 c.5116G>A c.(5116-5118)Gag>Aag p.E1706K NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 1706 perinuclear region of cytoplasm NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) ATTGCTTAGGGAGGAATCTCA 0.453000 13 87 0 0 0.146539 0 0 HOOK1 51361 broad.mit.edu 37 1 60324150 60324150 + Silent SNP A A G TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr1:60324150A>G ENST00000371208.3 + 13 1550 c.1293A>G c.(1291-1293)cgA>cgG p.R431R HOOK1_ENST00000465876.1_3'UTR|HOOK1_ENST00000395561.2_Silent_p.R389R NM_015888.4 NP_056972.1 Q9UJC3 HOOK1_HUMAN hook microtubule-tethering protein 1 431 Sufficient for interaction with microtubules. early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport FHF complex|microtubule identical protein binding biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1) 29 all_cancers(7;0.000129) AAGAGCTTCGATGTTCACAAG 0.363000 3 21 0 0 0.150653 0 0 KIF5C 3800 broad.mit.edu 37 2 149806425 149806425 + Missense_Mutation SNP G G A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr2:149806425G>A ENST00000435030.1 + 9 1155 c.787G>A c.(787-789)Gga>Aga p.G263R KIF5C_ENST00000414838.2_Missense_Mutation_p.G168R|KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000397413.1_Missense_Mutation_p.G31R O60282 KIF5C_HUMAN kinesin family member 5C 263 Kinesin-motor.|Microtubule-binding. microtubule-based movement|organelle organization cytoplasm|kinesin complex|microtubule ATP binding|microtubule motor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 BRCA - Breast invasive adenocarcinoma(221;0.108) GTCTGCTCTTGGAAATGTGAT 0.448000 5 22 0 0 0.217242 0 0 DEAF1 10522 broad.mit.edu 37 11 674761 674761 + Silent SNP C C A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr11:674761C>A ENST00000382409.3 - 10 1762 c.1278G>T c.(1276-1278)ctG>ctT p.L426L RP11-754B17.1_ENST00000527799.1_RNA|DEAF1_ENST00000338675.6_Silent_p.L337L|DEAF1_ENST00000525904.1_5'UTR NM_021008.2 NP_066288.2 O75398 DEAF1_HUMAN DEAF1 transcription factor 426 Pro-rich. embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|extracellular region|nucleus protein binding|zinc ion binding breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1) 24 all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136) all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075) GTGGGACCGCCAGCGCAGGCA 0.532000 11 22 1.58986e-06 1.95894e-06 0.069234 1 0 ADAMTS20 80070 broad.mit.edu 37 12 43847848 43847848 + Missense_Mutation SNP C C A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr12:43847848C>A ENST00000389420.3 - 12 1621 c.1622G>T c.(1621-1623)cGt>cTt p.R541L ADAMTS20_ENST00000553158.1_Missense_Mutation_p.R541L NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 541 Disintegrin. proteinaceous extracellular matrix zinc ion binding p.R541L(2) breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) TAGCCCATGACGGCAATGCTA 0.368000 4 53 0.150653 0.154001 0.150653 1 0 ADC 113451 broad.mit.edu 37 1 33567487 33567487 + Silent SNP C C A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr1:33567487C>A ENST00000358680.3 + 8 1196 c.609C>A c.(607-609)gcC>gcA p.A203A ADC_ENST00000398167.1_Intron|ADC_ENST00000373440.1_Silent_p.A203A|ADC_ENST00000484656.1_Intron|ADC_ENST00000373441.1_Intron|ADC_ENST00000373443.3_Intron|ADC_ENST00000294517.6_Intron Q96A70 ADC_HUMAN arginine decarboxylase 0 polyamine biosynthetic process|spermatogenesis cytosol arginine decarboxylase activity NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2) 11 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837) L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114) atttcattgccgtgtagcgct 0.433000 4 47 0.00024832 0.00027936 0.150653 1 0 HAVCR1 26762 broad.mit.edu 37 5 156476071 156476071 + Silent SNP T T A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr5:156476071T>A ENST00000339252.3 - 4 1291 c.759A>T c.(757-759)tcA>tcT p.S253S HAVCR1_ENST00000517644.1_5'UTR|HAVCR1_ENST00000544197.1_Silent_p.S253S|HAVCR1_ENST00000523175.1_Silent_p.S253S|HAVCR1_ENST00000425854.1_Silent_p.S253S|HAVCR1_ENST00000522693.1_Silent_p.S253S NM_012206.2 NP_036338.2 Q96D42 HAVR1_HUMAN hepatitis A virus cellular receptor 1 248 interspecies interaction between organisms integral to membrane receptor activity endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.0999) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) AGTACAATGGTGAGCTGGTGG 0.478000 14 93 0 0 0.119110 0 0 RAG2 5897 broad.mit.edu 37 11 36614774 36614774 + Silent SNP C C T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr11:36614774C>T ENST00000311485.3 - 2 1106 c.945G>A c.(943-945)aaG>aaA p.K315K NM_000536.3|NM_001243785.1|NM_001243786.1 NP_000527.2|NP_001230714.1|NP_001230715.1 P55895 RAG2_HUMAN recombination activating gene 2 315 chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination nucleus chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4) 32 all_lung(20;0.226) all_hematologic(20;0.00756) CAAACCATATCTTGCTGTGCT 0.383000 Familial Hemophagocytic Lymphohistiocytosis 14 122 0 0 0.175082 0 0 COL2A1 1280 broad.mit.edu 37 12 48375180 48375180 + Splice_Site SNP C C T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr12:48375180C>T ENST00000380518.3 - 37 2574 c.e37-1 COL2A1_ENST00000337299.6_Splice_Site|COL2A1_ENST00000493991.1_Splice_Site NM_001844.4|NM_033150.2 NP_001835.3|NP_149162.2 P02458 CO2A1_HUMAN collagen, type II, alpha 1 axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception collagen type II identical protein binding|platelet-derived growth factor binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3) 64 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) CAACTTCTCCCTGAGGGTGGG 0.662000 6 5 0 0 0.248553 0 0 SPTA1 6708 broad.mit.edu 37 1 158648262 158648262 + Missense_Mutation SNP C C A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr1:158648262C>A ENST00000368148.3 - 6 921 c.741G>T c.(739-741)gaG>gaT p.E247D SPTA1_ENST00000368147.3_Missense_Mutation_p.E247D NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 247 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) CACGAAGGCGCTCCCAGGCAG 0.448000 7 92 2.7689e-08 3.56001e-08 0.248553 1 0 GABRG1 2565 broad.mit.edu 37 4 46066479 46066479 + Missense_Mutation SNP A A T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr4:46066479A>T ENST00000295452.4 - 5 771 c.604T>A c.(604-606)Tgt>Agt p.C202S NM_173536.3 NP_775807.2 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 1 202 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 76 Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23) TCCAGTGGACAGGAATGTTCA 0.269000 7 36 0 0 0.047766 0 0 IL25 64806 broad.mit.edu 37 14 23842337 23842337 + Nonsense_Mutation SNP C C T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr14:23842337C>T ENST00000329715.2 + 1 268 c.10C>T c.(10-12)Cga>Tga p.R4* IL25_ENST00000397242.2_Intron NM_022789.3 NP_073626.1 Q9H293 IL25_HUMAN interleukin 25 4 inflammatory response extracellular space|membrane cytokine activity|interleukin-17E receptor binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1) 9 all_cancers(95;2e-05) GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396) GATGAGGGAGCGACCCAGATT 0.587000 9 57 0 0 0.080935 0 0 USH2A 7399 broad.mit.edu 37 1 216373437 216373437 + Silent SNP G G A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr1:216373437G>A ENST00000366943.2 - 17 3729 c.3343C>T c.(3343-3345)Ctg>Ttg p.L1115L USH2A_ENST00000307340.3_Silent_p.L1115L|RP5-1099E6.3_ENST00000420867.1_RNA|USH2A_ENST00000366942.3_Silent_p.L1115L O75445 USH2A_HUMAN Usher syndrome 2A (autosomal recessive, mild) 1115 Fibronectin type-III 1. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3) 527 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) TATGGTAACAGGTCTGTGTCT 0.368000 HNSCC(13;0.011) 4 52 0 0 0.184627 0 0 MAGEC1 9947 broad.mit.edu 37 X 140994373 140994373 + Missense_Mutation SNP A A G TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chrX:140994373A>G ENST00000285879.4 + 4 1469 c.1183A>G c.(1183-1185)Aga>Gga p.R395G MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 395 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) TTCCCCTGAGAGAACTCACAG 0.473000 HNSCC(15;0.026) 51 107 0 0 0.139131 0 0 MID1 4281 broad.mit.edu 37 X 10535314 10535314 + Missense_Mutation SNP T T C TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chrX:10535314T>C ENST00000317552.4 - 2 674 c.274A>G c.(274-276)Agc>Ggc p.S92G MID1_ENST00000453318.2_Missense_Mutation_p.S92G|MID1_ENST00000380779.1_Missense_Mutation_p.S92G|MID1_ENST00000380787.1_Missense_Mutation_p.S92G|MID1_ENST00000380780.1_Missense_Mutation_p.S92G|MID1_ENST00000380782.2_Missense_Mutation_p.S92G|MID1_ENST00000380785.1_Missense_Mutation_p.S92G NM_000381.3|NM_033289.1 NP_000372.1|NP_150631.1 O15344 TRI18_HUMAN midline 1 (Opitz/BBB syndrome) 92 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 TTGGGCCCGCTCACTGATGCT 0.607000 9 40 0 0 0.058154 0 0 MAGEC2 51438 broad.mit.edu 37 X 141290891 141290891 + Missense_Mutation SNP G G T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chrX:141290891G>T ENST00000247452.3 - 3 1230 c.883C>A c.(883-885)Cca>Aca p.P295T NM_016249.3 NP_057333.1 Q9UBF1 MAGC2_HUMAN melanoma antigen family C, 2 295 MAGE. cytoplasm|nucleus NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3) 47 Acute lymphoblastic leukemia(192;6.56e-05) TCATAATATGGAGGAGAACTG 0.498000 HNSCC(46;0.14) 44 106 2.69774e-35 3.82488e-35 0.139131 1 0 ULBP3 79465 broad.mit.edu 37 6 150386651 150386651 + Missense_Mutation SNP C C G TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr6:150386651C>G ENST00000367339.1 - 3 539 c.511G>C c.(511-513)Gag>Cag p.E171Q ULBP3_ENST00000438272.2_Missense_Mutation_p.E171Q Q9BZM4 N2DL3_HUMAN UL16 binding protein 3 171 MHC class I alpha-2 like. antigen processing and presentation|immune response|natural killer cell activation anchored to membrane|MHC class I protein complex MHC class I receptor activity central_nervous_system(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 9 Ovarian(120;0.12) BRCA - Breast invasive adenocarcinoma(37;0.193) OV - Ovarian serous cystadenocarcinoma(155;2.45e-12) TCCCACTTCTCTTTCATCCGC 0.507000 8 50 0 0 0.058154 0 0 SPTBN4 57731 broad.mit.edu 37 19 41062057 41062057 + Missense_Mutation SNP G G A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr19:41062057G>A ENST00000352632.3 + 25 5238 c.5152G>A c.(5152-5154)Gag>Aag p.E1718K SPTBN4_ENST00000392025.1_Missense_Mutation_p.E461K|SPTBN4_ENST00000338932.3_Missense_Mutation_p.E1718K|SPTBN4_ENST00000598249.1_Missense_Mutation_p.E1718K|SPTBN4_ENST00000392023.1_Missense_Mutation_p.E394K|SPTBN4_ENST00000595535.1_Missense_Mutation_p.E1718K Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 1718 actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|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) GCTGGGTGAGGAGCGCCGGGT 0.657000 3 7 0 0 0.150653 0 0 FAT1 2195 broad.mit.edu 37 4 187510357 187510357 + Missense_Mutation SNP A A G TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr4:187510357A>G ENST00000441802.2 - 27 13365 c.13156T>C c.(13156-13158)Tca>Cca p.S4386P NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 4386 actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 ATCCAATCTGATGTATCCCAG 0.468000 HNSCC(5;0.00058) 21 127 0 0 0.083992 0 0 APBB1 322 broad.mit.edu 37 11 6424580 6424580 + Missense_Mutation SNP C C T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr11:6424580C>T ENST00000389906.2 - 5 1108 c.1009G>A c.(1009-1011)Ggg>Agg p.G337R APBB1_ENST00000311051.3_Missense_Mutation_p.G337R|APBB1_ENST00000299402.6_Missense_Mutation_p.G337R|APBB1_ENST00000533407.1_Missense_Mutation_p.G78R|APBB1_ENST00000530885.1_Missense_Mutation_p.G117R NM_001257325.1 NP_001244254.1 O00213 APBB1_HUMAN amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) 337 apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1) 24 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194) GTCAACGTCCCCTCCTCAGGT 0.572000 20 98 0 0 0.264190 0 0 FN1 2335 broad.mit.edu 37 2 216271930 216271930 + Missense_Mutation SNP A A T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr2:216271930A>T ENST00000354785.4 - 18 3002 c.2633T>A c.(2632-2634)aTc>aAc p.I878N FN1_ENST00000345488.5_Missense_Mutation_p.I878N|FN1_ENST00000446046.1_Missense_Mutation_p.I878N|FN1_ENST00000443816.1_Missense_Mutation_p.I878N|FN1_ENST00000432072.2_Missense_Mutation_p.I878N|FN1_ENST00000323926.6_Missense_Mutation_p.I878N|FN1_ENST00000336916.4_Missense_Mutation_p.I878N|FN1_ENST00000346544.3_Missense_Mutation_p.I878N|FN1_ENST00000359671.1_Missense_Mutation_p.I878N|FN1_ENST00000357009.2_Missense_Mutation_p.I878N|FN1_ENST00000421182.1_Missense_Mutation_p.I878N|FN1_ENST00000357867.4_Missense_Mutation_p.I878N|FN1_ENST00000356005.4_Missense_Mutation_p.I878N P02751 FINC_HUMAN fibronectin 1 878 Fibronectin type-III 3. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding FN1/ALK(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 109 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) ATAGATAGTGATGTTATACTG 0.438000 17 112 0 0 0.189662 0 0 GABRA4 2557 broad.mit.edu 37 4 46973176 46973176 + Silent SNP C C A rs147092196 TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr4:46973176C>A ENST00000264318.3 - 7 1780 c.798G>T c.(796-798)ccG>ccT p.P266P NM_000809.3|NM_001204266.1|NM_001204267.1 NP_000800.2|NP_001191195.1|NP_001191196.1 P48169 GBRA4_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 4 266 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TCATAATGCACGGAATATAGG 0.368000 4 35 0.00909568 0.00963072 0.150653 1 0 ASIC2 40 broad.mit.edu 37 17 31415962 31415962 + Missense_Mutation SNP C C G TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr17:31415962C>G ENST00000225823.2 - 3 1778 c.906G>C c.(904-906)caG>caC p.Q302H ASIC2_ENST00000359872.6_Missense_Mutation_p.Q251H|ASIC2_ENST00000448983.1_5'UTR NM_183377.1 NP_899233.1 Q16515 ACCN1_HUMAN acid-sensing (proton-gated) ion channel 2 251 central nervous system development|peripheral nervous system development|synaptic transmission integral to plasma membrane ligand-gated sodium channel activity|protein binding Amiloride(DB00594) GTGGCTCAGACTGACTGTGGA 0.532000 3 57 0 0 0.150653 0 0 VGLL1 51442 broad.mit.edu 37 X 135631059 135631059 + Nonsense_Mutation SNP A A T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chrX:135631059A>T ENST00000370634.3 + 3 696 c.526A>T c.(526-528)Aga>Tga p.R176* NM_016267.3 NP_057351.1 Q99990 VGLL1_HUMAN vestigial like 1 (Drosophila) 176 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus transcription coactivator activity breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Acute lymphoblastic leukemia(192;0.000127) CCAGCAAGACAGATGCCTAGC 0.612000 41 68 0 0 0.131918 0 0 GPR139 124274 broad.mit.edu 37 16 20043715 20043715 + Missense_Mutation SNP T T C TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr16:20043715T>C ENST00000570682.1 - 2 704 c.404A>G c.(403-405)aAg>aGg p.K135R NM_001002911.2 NP_001002911.1 Q6DWJ6 GP139_HUMAN G protein-coupled receptor 139 135 integral to membrane|plasma membrane autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 30 CGTGTGGTACTTGAGCGGGTG 0.498000 7 70 0 0 0.248553 0 0 NMD3 51068 broad.mit.edu 37 3 160952566 160952566 + Missense_Mutation SNP C C G TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr3:160952566C>G ENST00000460469.1 + 5 864 c.409C>G c.(409-411)Cag>Gag p.Q137E NMD3_ENST00000472947.1_Missense_Mutation_p.Q137E|NMD3_ENST00000351193.2_Missense_Mutation_p.Q137E|NMD3_ENST00000478160.1_3'UTR Q96D46 NMD3_HUMAN NMD3 ribosome export adaptor 137 protein transport cytoplasm|nucleolus|nucleoplasm cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2) 25 Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156) TTATGTTGTTCAGTCCCAAAT 0.383000 5 119 0 0 0.184627 0 0 YLPM1 56252 broad.mit.edu 37 14 75276211 75276211 + Silent SNP A A T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr14:75276211A>T ENST00000325680.7 + 7 4774 c.4650A>T c.(4648-4650)ccA>ccT p.P1550P YLPM1_ENST00000238571.3_Silent_p.P1355P|YLPM1_ENST00000552421.1_Silent_p.P844P NM_019589.2 NP_062535.2 P49750 YLPM1_HUMAN YLP motif containing 1 1355 Arg-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 62 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00162) CACCAcctccacctcctccac 0.522000 4 21 0 0 0.150653 0 0 ZFHX3 463 broad.mit.edu 37 16 72993498 72993498 + Missense_Mutation SNP C C T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr16:72993498C>T ENST00000268489.5 - 2 1219 c.547G>A c.(547-549)Gac>Aac p.D183N ZFHX3_ENST00000397992.5_Intron NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 183 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) CACGAAGGGTCCCCTTGCTTG 0.637000 4 49 0 0 0.150653 0 0 GVINP1 387751 broad.mit.edu 37 11 6738832 6738832 + RNA SNP C C T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr11:6738832C>T ENST00000526769.2 - 0 4372 ATGGAGGAAGCTTCTTCCAGA 0.423000 6 5 0 0 0.217242 0 0 ATP13A4 84239 broad.mit.edu 37 3 193176932 193176932 + Missense_Mutation SNP G G A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr3:193176932G>A ENST00000342695.4 - 14 1934 c.1612C>T c.(1612-1614)Ctt>Ttt p.L538F ATP13A4_ENST00000295548.3_Missense_Mutation_p.L538F|ATP13A4_ENST00000392443.3_Missense_Mutation_p.L519F NM_032279.2 NP_115655.2 Q4VNC1 AT134_HUMAN ATPase type 13A4 538 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2) 71 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) CCATCAAGAAGGATCAGAGAG 0.532000 13 99 0 0 0.119110 0 0 A2M 2 broad.mit.edu 37 12 9246133 9246133 + Missense_Mutation SNP A A T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr12:9246133A>T ENST00000318602.7 - 18 2475 c.2168T>A c.(2167-2169)gTt>gAt p.V723D NM_000014.4 NP_000005.2 P01023 A2MG_HUMAN alpha-2-macroglobulin 723 Bait region.|Inhibitory. blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|extracellular space|platelet alpha granule lumen enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 77 Bacitracin(DB00626)|Becaplermin(DB00102) AGGCTCTTCAACATGCACCAG 0.443000 11 56 0 0 0.069234 0 0 FAM135B 51059 broad.mit.edu 37 8 139153550 139153550 + Silent SNP G G T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr8:139153550G>T ENST00000395297.1 - 17 3851 c.3681C>A c.(3679-3681)gtC>gtA p.V1227V NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 1227 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) GCCGTGTGAGGACCGATCGGA 0.552000 HNSCC(54;0.14) 19 105 4.4004e-07 5.48725e-07 0.083992 1 0 ADAM9 8754 broad.mit.edu 37 8 38884267 38884267 + Missense_Mutation SNP T T A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr8:38884267T>A ENST00000487273.2 + 11 1146 c.1068T>A c.(1066-1068)aaT>aaA p.N356K NM_003816.2 NP_003807.1 Q13443 ADAM9_HUMAN ADAM metallopeptidase domain 9 356 Peptidase M12B. activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway extracellular space|integral to membrane|intrinsic to external side of plasma membrane collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153) LUSC - Lung squamous cell carcinoma(45;2.74e-07) TTGGAATGAATCACGATGATG 0.418000 13 98 0 0 0.105934 0 0 QKI 9444 broad.mit.edu 37 6 163956145 163956145 + Silent SNP A A G TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr6:163956145A>G ENST00000361752.3 + 4 1085 c.534A>G c.(532-534)ttA>ttG p.L178L QKI_ENST00000275262.7_Silent_p.L178L|QKI_ENST00000392127.2_Silent_p.L178L|QKI_ENST00000453779.2_Silent_p.L178L|QKI_ENST00000424802.3_Silent_p.L178L|QKI_ENST00000361195.2_Silent_p.L178L NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2 NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1 Q96PU8 QKI_HUMAN QKI, KH domain containing, RNA binding 178 mRNA processing|mRNA transport|regulation of translation|RNA splicing cytoplasm|nucleus|plasma membrane RNA binding|SH3 domain binding central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2) 27 Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203) all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234) TGAAGAAATTATTGGTACCTG 0.338000 17 53 0 0 0.175082 0 0 GLDN 342035 broad.mit.edu 37 15 51696845 51696845 + Missense_Mutation SNP T T C TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr15:51696845T>C ENST00000335449.6 + 10 1606 c.1550T>C c.(1549-1551)cTt>cCt p.L517P GLDN_ENST00000396399.2_Missense_Mutation_p.L393P NM_181789.2 NP_861454.2 Q6ZMI3 GLDN_HUMAN gliomedin 517 Olfactomedin-like. cell differentiation|nervous system development collagen|integral to membrane|plasma membrane central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 19 all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942) CAGTCTGTTCTTGCCATGTTA 0.378000 8 69 0 0 0.047766 0 0 ERC1 23085 broad.mit.edu 37 12 1553905 1553905 + Missense_Mutation SNP A A C TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr12:1553905A>C ENST00000397203.2 + 18 3608 c.3202A>C c.(3202-3204)Acc>Ccc p.T1068P ERC1_ENST00000589028.1_Missense_Mutation_p.T1068P|ERC1_ENST00000546231.2_Missense_Mutation_p.T1072P|ERC1_ENST00000543086.3_Missense_Mutation_p.T1040P|ERC1_ENST00000355446.5_Missense_Mutation_p.T1068P|ERC1_ENST00000360905.4_Missense_Mutation_p.T1068P Q8IUD2 RB6I2_HUMAN ELKS/RAB6-interacting/CAST family member 1 1068 FIP-RBD. I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport Golgi membrane|IkappaB kinase complex|presynaptic membrane leucine zipper domain binding NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 all_epithelial(11;0.0698)|Ovarian(42;0.107) OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567) GCAGAAGATGACCCGGGGGCA 0.552000 6 54 0 0 0.038147 0 0 POM121L12 285877 broad.mit.edu 37 7 53103754 53103754 + Silent SNP A A T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr7:53103754A>T ENST00000408890.4 + 1 406 c.390A>T c.(388-390)ccA>ccT p.P130P NM_182595.3 NP_872401.3 Q8N7R1 P1L12_HUMAN POM121 transmembrane nucleoporin-like 12 130 endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 61 CCTGGAACCCAGGACGGACCT 0.716000 3 23 0 0 0.115264 0 0 NME8 51314 broad.mit.edu 37 7 37927918 37927918 + Missense_Mutation SNP C C A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr7:37927918C>A ENST00000199447.4 + 15 1659 c.1287C>A c.(1285-1287)aaC>aaA p.N429K EPDR1_ENST00000476620.1_Intron|NME8_ENST00000440017.1_Missense_Mutation_p.N429K NM_016616.4 NP_057700.3 Q8N427 TXND3_HUMAN NME/NM23 family member 8 429 NDK 2. cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process cytoplasm|microtubule cytoskeleton ATP binding|nucleoside diphosphate kinase activity TGCCGGTCAACCAGTTGTATG 0.373000 8 125 1.06961e-07 1.35006e-07 0.038147 1 0 NPHS1 4868 broad.mit.edu 37 19 36339163 36339163 + Missense_Mutation SNP T T C TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr19:36339163T>C ENST00000378910.5 - 10 1306 c.1307A>G c.(1306-1308)aAc>aGc p.N436S NPHS1_ENST00000353632.6_Missense_Mutation_p.N436S NM_004646.3 NP_004637.1 O60500 NPHN_HUMAN nephrosis 1, congenital, Finnish type (nephrin) 436 cell adhesion|excretion|muscle organ development integral to plasma membrane NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) ACATTTTACGTTCAGGATGAG 0.577000 6 54 0 0 0.217242 0 0 BARX2 8538 broad.mit.edu 37 11 129306661 129306661 + Missense_Mutation SNP G G C TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr11:129306661G>C ENST00000281437.4 + 2 299 c.203G>C c.(202-204)cGg>cCg p.R68P BARX2_ENST00000526127.1_5'UTR NM_003658.4 NP_003649.2 Q9UMQ3 BARX2_HUMAN BARX homeobox 2 68 breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 20 all_hematologic(175;0.0749) Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253) CCTTCCCTGCGGGCATATCCG 0.672000 5 102 0 0 0.217242 0 0 RP11-782C8.2 0 broad.mit.edu 37 1 143163614 143163614 + RNA SNP T T A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr1:143163614T>A ENST00000412204.2 - 0 2503 RP11-782C8.4_ENST00000424474.2_lincRNA|RP11-782C8.1_ENST00000438000.1_lincRNA ttctttcctctgcttggtcta 0.488000 2 3 0 0 0.115264 0 0 RAVER2 55225 broad.mit.edu 37 1 65243492 65243492 + Missense_Mutation SNP T T C TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr1:65243492T>C ENST00000294428.3 + 3 581 c.503T>C c.(502-504)aTt>aCt p.I168T RAVER2_ENST00000371072.4_Missense_Mutation_p.I168T Q9HCJ3 RAVR2_HUMAN ribonucleoprotein, PTB-binding 2 168 RRM 2. cytoplasm|nucleus nucleotide binding|RNA binding breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 24 TATGGAAATATTGAGAGATGT 0.403000 28 312 0 0 0.116897 0 0 REV3L 5980 broad.mit.edu 37 6 111695267 111695267 + Missense_Mutation SNP A A G TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr6:111695267A>G ENST00000435970.1 - 15 4873 c.4057T>C c.(4057-4059)Tgc>Cgc p.C1353R REV3L_ENST00000358835.3_Missense_Mutation_p.C1431R|REV3L_ENST00000368802.3_Missense_Mutation_p.C1431R|REV3L_ENST00000368805.1_Missense_Mutation_p.C1431R O60673 DPOLZ_HUMAN REV3-like, polymerase (DNA directed), zeta, catalytic subunit 1431 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 88 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) TCCGCTATGCACACAATCTGC 0.418000 DNA polymerases (catalytic subunits) 4 116 0 0 0.184627 0 0 NXPE2 120406 broad.mit.edu 37 11 114569284 114569284 + Missense_Mutation SNP C C A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr11:114569284C>A ENST00000375475.5 + 3 748 c.650C>A c.(649-651)aCt>aAt p.T217N NXPE2_ENST00000389586.4_Missense_Mutation_p.T217N neurexophilin and PC-esterase domain family, member 2 ATCATCTTCACTGGCCTGTTT 0.517000 18 58 1.56452e-12 2.11671e-12 0.189662 1 0 MYH7 4625 broad.mit.edu 37 14 23884965 23884965 + Missense_Mutation SNP C C A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr14:23884965C>A ENST00000355349.3 - 35 5192 c.5030G>T c.(5029-5031)cGc>cTc p.R1677L NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1677 adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.R1677H(1) NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) CAGGTTGTTGCGCCGCTCCAC 0.612000 4 49 2.56e-06 3.10804e-06 0.150653 1 0 SPTA1 6708 broad.mit.edu 37 1 158585142 158585142 + Missense_Mutation SNP C C A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr1:158585142C>A ENST00000368148.3 - 48 6832 c.6652G>T c.(6652-6654)Gac>Tac p.D2218Y SPTA1_ENST00000368147.3_Missense_Mutation_p.D2215Y NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 2218 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) TCCCCCAGGTCCACAATCTTG 0.498000 35 288 2.04263e-09 2.6846e-09 0.203993 1 0 LRRC4C 57689 broad.mit.edu 37 11 40137259 40137259 + Missense_Mutation SNP C C A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr11:40137259C>A ENST00000278198.2 - 2 2547 c.584G>T c.(583-585)gGt>gTt p.G195V LRRC4C_ENST00000530763.1_Missense_Mutation_p.G195V|LRRC4C_ENST00000527150.1_Missense_Mutation_p.G195V|LRRC4C_ENST00000528697.1_Missense_Mutation_p.G195V Q9HCJ2 LRC4C_HUMAN leucine rich repeat containing 4C 195 regulation of axonogenesis integral to membrane protein binding NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 86 all_lung(304;0.0575)|Lung NSC(402;0.138) GTTGGACAGACCTTCAAAGGC 0.443000 17 84 1.99824e-07 2.5145e-07 0.160694 1 0 OBSCN 84033 broad.mit.edu 37 1 228444509 228444509 + Silent SNP C C T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr1:228444509C>T ENST00000570156.2 + 16 4817 c.4743C>T c.(4741-4743)cgC>cgT p.R1581R OBSCN_ENST00000422127.1_Silent_p.R1489R|OBSCN_ENST00000284548.11_Silent_p.R1489R|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000359599.6_Silent_p.R53R NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 562 Ig-like 16. VRM -> MRV (in Ref. 1; CAC85750). apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) CGAAAGTGCGCATGGAGGCTG 0.682000 6 34 0 0 0.248553 0 0 OR2D3 120775 broad.mit.edu 37 11 6943219 6943219 + Missense_Mutation SNP G G T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr11:6943219G>T ENST00000317834.3 + 1 1015 c.987G>T c.(985-987)agG>agT p.R329S NM_001004684.1 NP_001004684.1 Q8NGH3 OR2D3_HUMAN olfactory receptor, family 2, subfamily D, member 3 329 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1) 27 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) TCTCTCATAGGCAGTGACCTC 0.403000 5 61 0.014758 0.0153899 0.184627 1 0 BTK 695 broad.mit.edu 37 X 100617171 100617171 + Missense_Mutation SNP T T A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chrX:100617171T>A ENST00000308731.7 - 7 741 c.578A>T c.(577-579)gAg>gTg p.E193V BTK_ENST00000372880.1_Missense_Mutation_p.E193V NM_000061.2 NP_000052.1 Q06187 BTK_HUMAN Bruton agammaglobulinemia tyrosine kinase 193 calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development cytosol|membrane raft|nucleus|plasma membrane ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 50 CTGGTCCTCCTCAGGCGTTGG 0.473000 Agammaglobulinemia, X-linked 7 20 0 0 0.047766 0 0 KCNK10 54207 broad.mit.edu 37 14 88652311 88652311 + Missense_Mutation SNP C C A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr14:88652311C>A ENST00000340700.5 - 7 1636 c.1185G>T c.(1183-1185)gaG>gaT p.E395D KCNK10_ENST00000312350.5_Missense_Mutation_p.E400D|KCNK10_ENST00000319231.5_Missense_Mutation_p.E400D NM_021161.4 NP_066984.1 P57789 KCNKA_HUMAN potassium channel, subfamily K, member 10 395 signal transduction integral to membrane potassium channel activity|voltage-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 47 CAGAGCGCTTCTCGGGGGACA 0.677000 9 34 0.000673444 0.000747469 0.069234 1 0 COL11A1 1301 broad.mit.edu 37 1 103487272 103487272 + Silent SNP C C T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr1:103487272C>T ENST00000358392.2 - 9 1652 c.1335G>A c.(1333-1335)gtG>gtA p.V445V COL11A1_ENST00000512756.1_Silent_p.V317V|COL11A1_ENST00000370096.3_Silent_p.V433V|COL11A1_ENST00000353414.4_Silent_p.V394V NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 433 Triple-helical region (interrupted). collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) CAGGCTCAACCACTGCTGGTT 0.363000 7 23 0 0 0.038147 0 0 MYO5B 4645 broad.mit.edu 37 18 47375947 47375947 + Silent SNP C C T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr18:47375947C>T ENST00000285039.7 - 32 4604 c.4305G>A c.(4303-4305)caG>caA p.Q1435Q MYO5B_ENST00000324581.6_Silent_p.Q550Q|MYO5B_ENST00000592688.1_Silent_p.Q5Q|SCARNA17_ENST00000589499.1_RNA NM_001080467.2 NP_001073936.1 Q9ULV0 MYO5B_HUMAN myosin VB 1435 protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) CTTCTAGGTCCTGGGCTTTCT 0.488000 9 707 0 0 0.080935 0 0 SCN2A 6326 broad.mit.edu 37 2 166201109 166201109 + Missense_Mutation SNP G G T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr2:166201109G>T ENST00000357398.3 + 16 2897 c.2607G>T c.(2605-2607)atG>atT p.M869I SCN2A_ENST00000375427.2_Missense_Mutation_p.M869I|SCN2A_ENST00000375437.2_Missense_Mutation_p.M869I|SCN2A_ENST00000283256.6_Missense_Mutation_p.M869I Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit 869 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Lamotrigine(DB00555) CTCTAAATATGCTAATTAAGA 0.413000 16 65 3.45872e-05 4.04494e-05 0.146539 1 0 RTKN2 219790 broad.mit.edu 37 10 63958111 63958111 + Missense_Mutation SNP A A C TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr10:63958111A>C ENST00000373789.3 - 12 1482 c.1386T>G c.(1384-1386)caT>caG p.H462Q RTKN2_ENST00000395265.1_Missense_Mutation_p.H483Q|RTKN2_ENST00000315289.2_Missense_Mutation_p.H264Q NM_145307.2 NP_660350.2 Q8IZC4 RTKN2_HUMAN rhotekin 2 462 H -> R (in dbSNP:rs3125734). signal transduction intracellular 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) AGGATTCTTCATGCTGACCAA 0.378000 3 92 0 0 0.115264 0 0 DOCK4 9732 broad.mit.edu 37 7 111409724 111409724 + Missense_Mutation SNP T T A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr7:111409724T>A ENST00000428084.1 - 37 3961 c.3689A>T c.(3688-3690)tAt>tTt p.Y1230F DOCK4_ENST00000494651.2_Missense_Mutation_p.Y104F|DOCK4_ENST00000437633.1_Missense_Mutation_p.Y1221F Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 1221 DHR-2. cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4) 72 Acute lymphoblastic leukemia(1;0.0441) GAGGAGGGTATATGCAGCTTC 0.507000 9 30 0 0 0.058154 0 0 C5AR1 728 broad.mit.edu 37 19 47823817 47823817 + Silent SNP G G A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr19:47823817G>A ENST00000355085.3 + 2 805 c.783G>A c.(781-783)acG>acA p.T261T NM_001736.3 NP_001727.1 P21730 C5AR_HUMAN complement component 5a receptor 1 261 activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus integral to plasma membrane C5a anaphylatoxin receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1) 20 all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503) all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242) ACCAGGTGACGGGGATAATGA 0.577000 6 38 0 0 0.217242 0 0 YTHDF3 253943 broad.mit.edu 37 8 64098705 64098705 + Splice_Site SNP G G C TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr8:64098705G>C ENST00000542911.2 + 5 389 c.e5-1 YTHDF3_ENST00000539294.1_Intron|YTHDF3_ENST00000521674.1_Splice_Site|YTHDF3_ENST00000517371.1_Intron Q7Z739 YTHD3_HUMAN YTH domain family, member 3 Breast(64;0.0716) all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146) BRCA - Breast invasive adenocarcinoma(89;0.161) TTGTTTTGCAGAGTAACAGCT 0.363000 3 29 0 0 0.115264 0 0 OR4A15 81328 broad.mit.edu 37 11 55135507 55135507 + Missense_Mutation SNP G G A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr11:55135507G>A ENST00000314706.3 + 1 148 c.148G>A c.(148-150)Gag>Aag p.E50K NM_001005275.1 NP_001005275.1 Q8NGL6 O4A15_HUMAN olfactory receptor, family 4, subfamily A, member 15 50 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 71 ACAGAACCCTGAGGGGCAAAA 0.438000 8 54 0 0 0.038147 0 0 DACH2 117154 broad.mit.edu 37 X 85404023 85404023 + Silent SNP G G A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chrX:85404023G>A ENST00000373131.1 + 1 562 c.399G>A c.(397-399)ggG>ggA p.G133G DACH2_ENST00000373125.4_Silent_p.G133G NM_001139514.1 NP_001132986.1 Q96NX9 DACH2_HUMAN dachshund homolog 2 (Drosophila) 133 DACHbox-N. 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 TCCTCCGCGGGCTGGGGGCCA 0.567000 12 20 0 0 0.132662 0 0 TCL6 27004 broad.mit.edu 37 14 96134711 96134711 + RNA SNP G G A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr14:96134711G>A ENST00000467865.1 + 0 1821 RP11-1070N10.6_ENST00000461160.1_RNA large_intestine(1)|lung(7) 8 all_cancers(154;0.103) Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207) ACAGCAGCATGAAAAACAGGC 0.512000 T TRA@ T-ALL 5 58 0 0 0.217242 0 0 CACNA1E 777 broad.mit.edu 37 1 181701820 181701820 + Silent SNP C C T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr1:181701820C>T ENST00000526775.1 + 19 2706 c.2541C>T c.(2539-2541)gcC>gcT p.A847A CACNA1E_ENST00000367567.4_Silent_p.A473A|CACNA1E_ENST00000360108.3_Silent_p.A847A|CACNA1E_ENST00000367573.2_Silent_p.A866A|CACNA1E_ENST00000358338.5_Silent_p.A798A|CACNA1E_ENST00000367570.1_Silent_p.A866A|CACNA1E_ENST00000357570.5_Silent_p.A817A NM_001205294.1 NP_001192223.1 Q15878 CAC1E_HUMAN calcium channel, voltage-dependent, R type, alpha 1E subunit 866 energy reserve metabolic process|membrane depolarization|synaptic transmission voltage-gated calcium channel complex voltage-gated calcium channel activity NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 204 GATCCAGTGCCCTGGACAACC 0.672000 3 15 0 0 0.150653 0 0 ZFHX4 79776 broad.mit.edu 37 8 77690536 77690536 + Silent SNP G G C TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr8:77690536G>C ENST00000521891.2 + 4 3634 c.3186G>C c.(3184-3186)ctG>ctC p.L1062L ZFHX4_ENST00000517683.1_3'UTR|ZFHX4_ENST00000455469.2_Silent_p.L1036L|ZFHX4_ENST00000050961.6_Silent_p.L1036L|ZFHX4_ENST00000518282.1_Silent_p.L1036L NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 1036 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) AGTTGAATCTGGTACAACATG 0.537000 HNSCC(33;0.089) 7 119 0 0 0.248553 0 0 IGHV3-64 28414 broad.mit.edu 37 14 107113929 107113929 + RNA SNP A A C TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr14:107113929A>C ENST00000454421.2 - 0 242 TGGCGGACCCAGTGCATAGCA 0.547000 10 211 0 0 0.069234 0 0 COL1A2 1278 broad.mit.edu 37 7 94041394 94041394 + Silent SNP C C A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr7:94041394C>A ENST00000297268.6 + 24 1836 c.1365C>A c.(1363-1365)tcC>tcA p.S455S NM_000089.3 NP_000080.2 P08123 CO1A2_HUMAN collagen, type I, alpha 2 455 axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 115 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) TTCCTGGTTCCCCTGGAAATA 0.388000 HNSCC(75;0.22) 3 30 2.56e-06 3.10804e-06 0.150653 1 0 CSMD3 114788 broad.mit.edu 37 8 113504781 113504781 + Missense_Mutation SNP G G A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr8:113504781G>A ENST00000297405.5 - 31 5459 c.5215C>T c.(5215-5217)Ctc>Ttc p.L1739F CSMD3_ENST00000352409.3_Missense_Mutation_p.L1739F|CSMD3_ENST00000343508.3_Missense_Mutation_p.L1699F|CSMD3_ENST00000455883.2_Missense_Mutation_p.L1635F NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 1739 Sushi 9. integral to membrane|plasma membrane p.L1739F(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 ATACAGGTGAGTGTTGAATAA 0.383000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 24 80 0 0 0.091800 0 0 TEX13A 56157 broad.mit.edu 37 X 104463837 104463837 + Missense_Mutation SNP C C A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chrX:104463837C>A ENST00000372578.3 - 3 1152 c.1041G>T c.(1039-1041)atG>atT p.M347I IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000372575.1_Missense_Mutation_p.M347I|IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000413579.1_Missense_Mutation_p.G347W NM_031274.3 NP_112564.1 Q9BXU3 TX13A_HUMAN testis expressed 13A 0 intracellular zinc ion binding large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1) 8 TGGGGCCCCCCATCAGACCAC 0.562000 11 32 3.86212e-05 4.46625e-05 0.069234 1 0 GJA10 84694 broad.mit.edu 37 6 90605746 90605746 + Missense_Mutation SNP C C T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr6:90605746C>T ENST00000369352.1 + 1 1559 c.1559C>T c.(1558-1560)gCa>gTa p.A520V NM_032602.1 NP_115991.1 Q969M2 CXA10_HUMAN gap junction protein, alpha 10, 62kDa 520 synaptic transmission connexon complex|integral to membrane gap junction channel activity breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1) 37 all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527) BRCA - Breast invasive adenocarcinoma(108;0.0915) GACAGAGAGGCAGATGGAGGG 0.343000 4 110 0 0 0.150653 0 0 SPTA1 6708 broad.mit.edu 37 1 158623080 158623080 + Missense_Mutation SNP C C T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr1:158623080C>T ENST00000368148.3 - 22 3352 c.3172G>A c.(3172-3174)Gag>Aag p.E1058K SPTA1_ENST00000368147.3_Missense_Mutation_p.E1058K NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1058 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) TCAATCTGCTCCTGGCGCTGG 0.522000 4 90 0 0 0.150653 0 0 RYR3 6263 broad.mit.edu 37 15 34112970 34112970 + Missense_Mutation SNP G G C TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr15:34112970G>C ENST00000389232.4 + 78 10842 c.10772G>C c.(10771-10773)gGt>gCt p.G3591A RYR3_ENST00000415757.3_Missense_Mutation_p.G3586A NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 3591 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) TGTCAAAGTGGTGAGGATGAA 0.428000 3 13 0 0 0.115264 0 0 OR13A1 79290 broad.mit.edu 37 10 45799860 45799860 + Nonsense_Mutation SNP C C T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr10:45799860C>T ENST00000553795.1 - 4 319 c.11G>A c.(10-12)tGg>tAg p.W4* OR13A1_ENST00000536058.1_Nonsense_Mutation_p.W4*|OR13A1_ENST00000374401.2_Nonsense_Mutation_p.W4* NM_001004297.2 NP_001004297.2 Q8NGR1 O13A1_HUMAN olfactory receptor, family 13, subfamily A, member 1 4 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1) 19 ACTCTCCATCCACAGCTTCAT 0.507000 6 49 0 0 0.038147 0 0 PAX8 7849 broad.mit.edu 37 2 114002157 114002157 + Missense_Mutation SNP G G C TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr2:114002157G>C ENST00000429538.3 - 4 430 c.236C>G c.(235-237)tCc>tGc p.S79C AC016683.6_ENST00000451179.1_RNA|AC016683.6_ENST00000422956.1_RNA|AC016683.6_ENST00000436293.2_RNA|AC016683.6_ENST00000333145.5_RNA|AC016683.6_ENST00000556070.1_RNA|PAX8_ENST00000263335.7_Missense_Mutation_p.S79C|AC016683.6_ENST00000553869.2_RNA|AC016683.6_ENST00000445745.1_RNA|PAX8_ENST00000397647.3_Missense_Mutation_p.S79C|PAX8_ENST00000348715.5_Missense_Mutation_p.S79C|PAX8_ENST00000263334.5_Missense_Mutation_p.S79C NM_003466.3 NP_003457.1 Q06710 PAX8_HUMAN paired box 8 79 Paired. branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent nucleoplasm protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity PAX8/PPARG(117) breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1) 20 CTTGGGCTTGGAGCCCCCTAT 0.557000 T PPARG follicular thyroid Thyroid dysgenesis 15 142 0 0 0.189662 0 0 SEC16A 9919 broad.mit.edu 37 9 139353685 139353685 + Silent SNP T T C TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr9:139353685T>C ENST00000313050.7 - 15 5383 c.5310A>G c.(5308-5310)ccA>ccG p.P1770P SEC16A_ENST00000371706.3_Silent_p.P1592P|SEC16A_ENST00000431893.2_Silent_p.P1592P|SEC16A_ENST00000290037.6_Silent_p.P1592P NM_014866.1 NP_055681.1 O15027 SC16A_HUMAN SEC16 homolog A (S. cerevisiae) 1592 Pro-rich. protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Myeloproliferative disorder(178;0.0511) Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06) ACTTTAAGAATGGCAAACTGT 0.483000 5 24 0 0 0.184627 0 0 CARD16 114769 broad.mit.edu 37 11 104915276 104915276 + Missense_Mutation SNP C C G rs61739405 TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr11:104915276C>G ENST00000375706.2 - 2 134 c.117G>C c.(115-117)gaG>gaC p.E39D CASP1_ENST00000415981.2_Intron|CASP1_ENST00000593315.1_Intron|CASP1_ENST00000598974.1_Intron|CARD16_ENST00000375704.3_Missense_Mutation_p.E39D|CASP1_ENST00000594519.1_Intron|CARD16_ENST00000525374.1_Missense_Mutation_p.E39D NM_001017534.1 NP_001017534.1 caspase recruitment domain family, member 16 endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1) 11 CTTTCTCCATCTCTTCCTGGT 0.423000 11 413 0 0 0.069234 0 0 ZNF733P 643955 broad.mit.edu 37 7 62752740 62752740 + RNA SNP C C G TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr7:62752740C>G ENST00000331425.6 - 0 695 NR_003952.1 TTCCTCACATCTATATGGTTT 0.403000 5 25 0 0 0.038147 0 0 NOX3 50508 broad.mit.edu 37 6 155776924 155776924 + Missense_Mutation SNP C C T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr6:155776924C>T ENST00000159060.2 - 1 113 c.11G>A c.(10-12)tGc>tAc p.C4Y NM_015718.2 NP_056533.1 Q9HBY0 NOX3_HUMAN NADPH oxidase 3 4 electron carrier activity|flavin adenine dinucleotide binding|iron ion binding cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1) 45 Breast(66;0.0183) OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815) CAAAATCCAGCACCCCATCAT 0.378000 5 34 0 0 0.184627 0 0 ZNF670 93474 broad.mit.edu 37 1 247200850 247200850 + Silent SNP C C T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr1:247200850C>T ENST00000366503.2 - 4 1229 c.1071G>A c.(1069-1071)agG>agA p.R357R NM_001204220.1|NM_033213.4 NP_001191149.1|NP_149990.1 Q9BS34 ZN670_HUMAN zinc finger protein 670 357 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1) 17 all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00427) CAGTATGAGTCCTTTCATGGC 0.408000 36 53 0 0 0.173368 0 0 CMYA5 202333 broad.mit.edu 37 5 79029705 79029705 + Missense_Mutation SNP A A T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr5:79029705A>T ENST00000446378.2 + 2 5148 c.5117A>T c.(5116-5118)gAg>gTg p.E1706V NM_153610.3 NP_705838.3 Q8N3K9 CMYA5_HUMAN cardiomyopathy associated 5 1706 perinuclear region of cytoplasm NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1) 128 Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262) OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35) TTGCTTAGGGAGGAATCTCAG 0.448000 13 87 0 0 0.146539 0 0 GPR112 139378 broad.mit.edu 37 X 135405117 135405117 + Missense_Mutation SNP G G C TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chrX:135405117G>C ENST00000394143.1 + 5 542 c.251G>C c.(250-252)gGc>gCc p.G84A GPR112_ENST00000394141.1_Intron|GPR112_ENST00000412101.1_Intron|GPR112_ENST00000370652.1_Missense_Mutation_p.G84A|GPR112_ENST00000287534.4_Missense_Mutation_p.G21A NM_153834.3 NP_722576.3 Q8IZF6 GP112_HUMAN G protein-coupled receptor 112 84 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2) 199 Acute lymphoblastic leukemia(192;0.000127) GCCCTCCTGGGCAGAGAAGAC 0.448000 76 81 0 0 0.139131 0 0 GRIA4 2893 broad.mit.edu 37 11 105623720 105623720 + Nonsense_Mutation SNP T T A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr11:105623720T>A ENST00000393127.2 + 4 707 c.261T>A c.(259-261)taT>taA p.Y87* GRIA4_ENST00000428631.2_Nonsense_Mutation_p.Y87*|GRIA4_ENST00000393125.2_Nonsense_Mutation_p.Y87*|GRIA4_ENST00000530497.1_Nonsense_Mutation_p.Y87*|GRIA4_ENST00000282499.5_Nonsense_Mutation_p.Y87*|GRIA4_ENST00000525187.1_Nonsense_Mutation_p.Y87* NM_001077243.2 NP_001070711.2 P48058 GRIA4_HUMAN glutamate receptor, ionotropic, AMPA 4 87 glutamate signaling pathway|synaptic transmission cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6) 82 Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323) BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899) L-Glutamic Acid(DB00142) GTTCCCAGTATTCTAGAGGAG 0.378000 13 117 0 0 0.146539 0 0 POLL 27343 broad.mit.edu 37 10 103343395 103343395 + Missense_Mutation SNP T T G TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr10:103343395T>G ENST00000370162.3 - 6 1429 c.935A>C c.(934-936)aAa>aCa p.K312T DPCD_ENST00000470165.1_Intron|POLL_ENST00000370158.3_Missense_Mutation_p.K37T|POLL_ENST00000370172.1_Missense_Mutation_p.K224T|POLL_ENST00000299206.4_Missense_Mutation_p.K312T|POLL_ENST00000370169.1_Missense_Mutation_p.K312T|POLL_ENST00000456836.2_Missense_Mutation_p.K49T|POLL_ENST00000339310.3_Missense_Mutation_p.K35T|DPCD_ENST00000416979.2_Intron|POLL_ENST00000436284.2_Missense_Mutation_p.K170Q NM_001174084.1|NM_001174085.1|NM_013274.3 NP_001167555.1|NP_001167556.1|NP_037406.1 Q9UGP5 DPOLL_HUMAN polymerase (DNA directed), lambda 312 DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes nucleus DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2) 19 Colorectal(252;0.234) Epithelial(162;1.55e-08)|all cancers(201;6.64e-07) CTCTATGATTTTCTCAGCCAT 0.552000 DNA polymerases (catalytic subunits) 3 14 0 0 0.150653 0 0 C2orf78 388960 broad.mit.edu 37 2 74040815 74040815 + Missense_Mutation SNP C C G TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr2:74040815C>G ENST00000409561.1 + 2 430 c.309C>G c.(307-309)agC>agG p.S103R NM_001080474.1 NP_001073943.1 A6NCI8 CB078_HUMAN chromosome 2 open reading frame 78 103 Ser-rich. cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1) 34 AACATTCTAGCACAACTATGT 0.522000 12 75 0 0 0.105934 0 0 TFAP2D 83741 broad.mit.edu 37 6 50683242 50683242 + Silent SNP C C A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr6:50683242C>A ENST00000008391.3 + 2 681 c.453C>A c.(451-453)ggC>ggA p.G151G NM_172238.3 NP_758438.2 Q7Z6R9 AP2D_HUMAN transcription factor AP-2 delta (activating enhancer binding protein 2 delta) 151 DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1) 60 Lung NSC(77;0.0334) TGAGCCATGGCTCTCAGTATG 0.642000 29 124 1.45844e-13 1.99271e-13 0.173368 1 0 KCNS3 3790 broad.mit.edu 37 2 18113551 18113551 + Missense_Mutation SNP G G A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr2:18113551G>A ENST00000403915.1 + 3 1727 c.1276G>A c.(1276-1278)Gag>Aag p.E426K KCNS3_ENST00000465292.1_Intron|KCNS3_ENST00000304101.4_Missense_Mutation_p.E426K Q9BQ31 KCNS3_HUMAN potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3 426 energy reserve metabolic process|regulation of insulin secretion Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium channel regulator activity endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158) CCAGTGCAGTGAGGATGCACC 0.463000 23 139 0 0 0.264190 0 0 PCIF1 63935 broad.mit.edu 37 20 44567888 44567888 + Missense_Mutation SNP G G T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr20:44567888G>T ENST00000372409.3 + 4 523 c.159G>T c.(157-159)tgG>tgT p.W53C NM_022104.3 NP_071387.1 Q9H4Z3 PCIF1_HUMAN PDX1 C-terminal inhibiting factor 1 53 WW. nucleus central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 20 AGAAGTGCTGGAGCCGGAGGG 0.617000 4 10 0.014758 0.0153899 0.184627 1 0 AQP7 364 broad.mit.edu 37 9 33385614 33385614 + Missense_Mutation SNP A A T rs140995428 by1000genomes TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr9:33385614A>T ENST00000541274.1 - 5 830 c.381T>A c.(379-381)agT>agA p.S127R AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000377425.4_Intron|AQP7_ENST00000537089.1_3'UTR O14520 AQP7_HUMAN aquaporin 7 0 excretion|generation of precursor metabolites and energy cell-cell junction|cytoplasm|integral to plasma membrane glycerol channel activity|water channel activity NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) CCACAGAAAAACTCAAAGGAA 0.632000 4 59 0 0 0.217242 0 0 OR2D3 120775 broad.mit.edu 37 11 6943218 6943218 + Missense_Mutation SNP G G T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr11:6943218G>T ENST00000317834.3 + 1 1014 c.986G>T c.(985-987)aGg>aTg p.R329M NM_001004684.1 NP_001004684.1 Q8NGH3 OR2D3_HUMAN olfactory receptor, family 2, subfamily D, member 3 329 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|large_intestine(7)|lung(12)|prostate(3)|skin(1)|stomach(1) 27 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) TTCTCTCATAGGCAGTGACCT 0.403000 5 62 0.014758 0.0153899 0.184627 1 0 POLN 353497 broad.mit.edu 37 4 2230953 2230953 + Silent SNP T T C TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr4:2230953T>C ENST00000511885.2 - 3 359 c.6A>G c.(4-6)gaA>gaG p.E2E POLN_ENST00000382865.1_Silent_p.E2E|POLN_ENST00000515357.1_5'UTR|HAUS3_ENST00000506763.1_Intron|HAUS3_ENST00000243706.4_3'UTR Q7Z5Q5 DPOLN_HUMAN polymerase (DNA directed) nu 2 DNA repair|DNA replication nucleus DNA binding|DNA-directed DNA polymerase activity kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2) 28 OV - Ovarian serous cystadenocarcinoma(23;0.0955) CCTCATAATTTTCCATTTTCA 0.313000 DNA polymerases (catalytic subunits) 6 35 0 0 0.248553 0 0 WIBG 84305 broad.mit.edu 37 12 56297212 56297212 + Missense_Mutation SNP C C A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr12:56297212C>A ENST00000557259.1 - 2 348 c.128G>T c.(127-129)gGa>gTa p.G43V WIBG_ENST00000547925.1_Missense_Mutation_p.G44V|WIBG_ENST00000302533.6_5'UTR|WIBG_ENST00000408946.2_Silent_p.R30R|WIBG_ENST00000398213.4_Silent_p.R29R Q9BRP8 WIBG_HUMAN within bgcn homolog (Drosophila) 0 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation cytoplasm|exon-exon junction complex|nucleolus|nucleoplasm protein binding|ribosome binding|RNA binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2) 5 CTTTCACCCTCCGCTGCTTGC 0.468000 4 53 0.150653 0.154001 0.150653 1 0 OR4A16 81327 broad.mit.edu 37 11 55110813 55110813 + Missense_Mutation SNP C C T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr11:55110813C>T ENST00000314721.2 + 1 187 c.137C>T c.(136-138)aCt>aTt p.T46I NM_001005274.1 NP_001005274.1 Q8NH70 O4A16_HUMAN olfactory receptor, family 4, subfamily A, member 16 46 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 51 ATTTGGGTGACTACTATTGGC 0.433000 12 56 0 0 0.093190 0 0 RALBP1 10928 broad.mit.edu 37 18 9517288 9517288 + Silent SNP C C T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr18:9517288C>T ENST00000019317.4 + 3 913 c.690C>T c.(688-690)atC>atT p.I230I RALBP1_ENST00000383432.3_Silent_p.I230I Q15311 RBP1_HUMAN ralA binding protein 1 230 Rho-GAP. chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport cytosol|membrane ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1) 14 GTGAAGGCATCTACAGAGTAT 0.393000 4 66 0 0 0.150653 0 0 DCDC1 341019 broad.mit.edu 37 11 30930622 30930622 + Missense_Mutation SNP C C G TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr11:30930622C>G ENST00000597505.1 - 27 3788 c.3789G>C c.(3787-3789)tgG>tgC p.W1263C DCDC1_ENST00000406071.2_5'UTR|DCDC1_ENST00000339794.5_Missense_Mutation_p.W342C P59894 DCDC1_HUMAN doublecortin domain containing 1 0 intracellular signal transduction central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1) 31 Lung SC(675;0.225) TCATGTAATGCCACTTTTGAT 0.383000 4 37 0 0 0.150653 0 0 CTAGE1 64693 broad.mit.edu 37 18 19996946 19996946 + Missense_Mutation SNP T T A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr18:19996946T>A ENST00000391403.2 - 1 932 c.829A>T c.(829-831)Aat>Tat p.N277Y NM_172241.2 NP_758441.2 Q96RT6 CTGE2_HUMAN cutaneous T-cell lymphoma-associated antigen 1 277 integral to membrane cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1) 27 all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135) TTTGGAGGATTATCTAAGTAA 0.348000 5 237 0 0 0.217242 0 0 CAB39 51719 broad.mit.edu 37 2 231682502 231682502 + Missense_Mutation SNP T T G TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr2:231682502T>G ENST00000258418.5 + 8 1156 c.727T>G c.(727-729)Ttc>Gtc p.F243V CAB39_ENST00000410084.3_Missense_Mutation_p.F243V|CAB39_ENST00000409788.3_Missense_Mutation_p.F243V NM_016289.3 NP_057373.1 Q9Y376 CAB39_HUMAN calcium binding protein 39 243 cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation cytosol kinase binding central_nervous_system(1)|large_intestine(1)|skin(1) 3 all_lung(227;4.63e-07)|all_hematologic(139;1.83e-06)|Lung NSC(271;2.11e-05)|Acute lymphoblastic leukemia(138;5.51e-05)|Hepatocellular(293;0.0207)|Lung SC(224;0.187) all cancers(144;1.64e-12)|Epithelial(121;5.29e-11)|LUSC - Lung squamous cell carcinoma(224;0.0154)|Lung(119;0.0177)|COAD - Colon adenocarcinoma(134;0.226) TAGACACAACTTCACAATTAT 0.333000 4 41 0 0 0.184627 0 0 R3HDM1 23518 broad.mit.edu 37 2 136481642 136481642 + Missense_Mutation SNP G G A rs143951307 TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr2:136481642G>A ENST00000264160.4 + 26 3450 c.3080G>A c.(3079-3081)cGt>cAt p.R1027H R3HDM1_ENST00000329971.3_Missense_Mutation_p.R898H|R3HDM1_ENST00000409478.1_Missense_Mutation_p.R899H|R3HDM1_ENST00000409606.1_Missense_Mutation_p.R1028H|R3HDM1_ENST00000410054.1_Missense_Mutation_p.R972H NM_015361.2 NP_056176.2 Q15032 R3HD1_HUMAN R3H domain containing 1 1027 nucleic acid binding breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3) 38 BRCA - Breast invasive adenocarcinoma(221;0.127) CAACCACGTCGTCACCCCCTC 0.562000 8 62 0 0 0.047766 0 0 SIGLEC12 89858 broad.mit.edu 37 19 52003577 52003577 + Missense_Mutation SNP C C A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr19:52003577C>A ENST00000598614.1 - 1 50 c.51G>T c.(49-51)tgG>tgT p.W17C SIGLEC12_ENST00000291707.3_Intron NM_033329.1 NP_201586.1 Q96PQ1 SIG12_HUMAN sialic acid binding Ig-like lectin 12 (gene/pseudogene) 0 cell adhesion integral to membrane sugar binding NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2) 61 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102) GAGGGTCAGCCCAGCCCCCAC 0.607000 4 33 2.56e-06 3.10804e-06 0.150653 1 0 LHX9 56956 broad.mit.edu 37 1 197887011 197887011 + Missense_Mutation SNP A A T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr1:197887011A>T ENST00000367390.3 + 2 58 c.31A>T c.(31-33)Atg>Ttg p.M11L LHX9_ENST00000606127.1_3'UTR|LHX9_ENST00000337020.2_Missense_Mutation_p.M20L|LHX9_ENST00000367387.4_Missense_Mutation_p.M20L|LHX9_ENST00000367391.1_Missense_Mutation_p.M11L|LHX9_ENST00000561173.1_Missense_Mutation_p.M26L NM_001014434.1 NP_001014434.1 Q9NQ69 LHX9_HUMAN LIM homeobox 9 20 motor axon guidance|negative regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1) 35 CCCCCCAGCCATGCTCTTTCA 0.602000 8 109 0 0 0.038147 0 0 BRINP1 1620 broad.mit.edu 37 9 122004416 122004416 + Missense_Mutation SNP G G A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr9:122004416G>A ENST00000265922.3 - 4 949 c.488C>T c.(487-489)gCt>gTt p.A163V DBC1_ENST00000373964.2_Missense_Mutation_p.A163V NM_014618.2 NP_055433.2 O60477 DBC1_HUMAN 163 MACPF. cell cycle arrest|cell death cytoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 CTGGTGCAGAGCTTCAACACT 0.488000 5 50 0 0 0.184627 0 0 OR4N2 390429 broad.mit.edu 37 14 20296219 20296219 + Silent SNP C C T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr14:20296219C>T ENST00000315947.1 + 1 612 c.612C>T c.(610-612)ggC>ggT p.G204G OR4N2_ENST00000568211.1_3'UTR NM_001004723.1 NP_001004723.1 Q8NGD1 OR4N2_HUMAN olfactory receptor, family 4, subfamily N, member 2 204 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2) 52 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TCAACAGTGGCCTGATGACAC 0.512000 10 122 0 0 0.080935 0 0 KIAA1257 57501 broad.mit.edu 37 3 128711899 128711899 + Missense_Mutation SNP G G C TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr3:128711899G>C ENST00000265068.5 - 2 416 c.249C>G c.(247-249)ttC>ttG p.F83L KIAA1257_ENST00000510149.1_Intron|KIAA1257_ENST00000511438.1_Missense_Mutation_p.F83L NM_020741.2 NP_065792.1 Q9ULG3 K1257_HUMAN KIAA1257 83 breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2) 14 TATTCACAGGGAAGGCCAGTG 0.547000 15 103 0 0 0.189662 0 0 NANP 140838 broad.mit.edu 37 20 25596690 25596690 + Silent SNP T T C TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr20:25596690T>C ENST00000304788.3 - 2 844 c.618A>G c.(616-618)acA>acG p.T206T NM_152667.2 NP_689880.1 Q8TBE9 NANP_HUMAN N-acetylneuraminic acid phosphatase 206 N-acetylneuraminate biosynthetic process N-acylneuraminate-9-phosphatase activity|phosphoglycolate phosphatase activity endometrium(2)|lung(2)|prostate(1) 5 TGATCCAGACTGTTGCTTTCA 0.468000 5 37 0 0 0.184627 0 0 PEAR1 375033 broad.mit.edu 37 1 156874545 156874545 + Missense_Mutation SNP C C T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr1:156874545C>T ENST00000338302.3 + 4 332 c.107C>T c.(106-108)aCt>aTt p.T36I PEAR1_ENST00000292357.7_Missense_Mutation_p.T36I Q5VY43 PEAR1_HUMAN platelet endothelial aggregation receptor 1 36 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) TGCAGCTTCACTACCACCACC 0.677000 16 86 0 0 0.146539 0 0 TSNAXIP1 55815 broad.mit.edu 37 16 67860156 67860156 + Silent SNP C C T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr16:67860156C>T ENST00000388833.3 + 10 1461 c.1084C>T c.(1084-1086)Ctg>Ttg p.L362L TSNAXIP1_ENST00000415766.3_Silent_p.L347L|TSNAXIP1_ENST00000561639.1_Silent_p.L416L NM_018430.2 NP_060900.2 Q2TAA8 TXIP1_HUMAN translin-associated factor X interacting protein 1 362 cell differentiation|multicellular organismal development|spermatogenesis perinuclear region of cytoplasm NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1) 22 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125) TTCGGGGCTGCTGCGGGAGAA 0.632000 5 14 0 0 0.184627 0 0 CACNA2D1 781 broad.mit.edu 37 7 81643766 81643766 + Silent SNP T T C TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr7:81643766T>C ENST00000356860.3 - 13 1511 c.1173A>G c.(1171-1173)caA>caG p.Q391Q MIR1255B1_ENST00000454066.1_RNA|MIR1255B1_ENST00000439234.1_RNA|CACNA2D1_ENST00000356253.5_Silent_p.Q391Q|CACNA2D1_ENST00000464354.1_5'UTR NM_000722.2 NP_000713.2 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 1 391 VWFA. voltage-gated calcium channel complex metal ion binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) CATAATTGTGTTGACCAACTG 0.318000 6 23 0 0 0.038147 0 0 ASB4 51666 broad.mit.edu 37 7 95157271 95157271 + Silent SNP C C T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr7:95157271C>T ENST00000325885.5 + 3 705 c.634C>T c.(634-636)Ctg>Ttg p.L212L ASB4_ENST00000428113.1_Silent_p.L212L NM_016116.2 NP_057200.1 Q9Y574 ASB4_HUMAN ankyrin repeat and SOCS box containing 4 212 intracellular signal transduction central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2) 20 all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246) STAD - Stomach adenocarcinoma(171;0.0151) GGAGACCCCCCTGGCCATCGC 0.622000 OREG0018172 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 43 0 0 0.093190 0 0 ZNF695 57116 broad.mit.edu 37 1 247150501 247150501 + Missense_Mutation SNP T T C TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr1:247150501T>C ENST00000339986.7 - 4 1463 c.1316A>G c.(1315-1317)gAt>gGt p.D439G ZNF695_ENST00000498046.2_Intron|ZNF695_ENST00000487338.2_Intron NM_020394.4 NP_065127.4 Q8IW36 ZN695_HUMAN zinc finger protein 695 439 regulation of transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1) 13 all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) GCCACATTCATCACATTTGTA 0.368000 3 80 0 0 0.115264 0 0 AFAP1 60312 broad.mit.edu 37 4 7870433 7870433 + Silent SNP C C T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr4:7870433C>T ENST00000420658.1 - 3 413 c.141G>A c.(139-141)aaG>aaA p.K47K AFAP1_ENST00000358461.2_Silent_p.K47K|AFAP1_ENST00000382543.3_Silent_p.K47K|AFAP1_ENST00000360265.4_Silent_p.K47K NM_001134647.1 NP_001128119.1 Q8N556 AFAP1_HUMAN actin filament associated protein 1 47 actin cytoskeleton|cytoplasm|focal adhesion actin binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2) 32 GAGCATGGTCCTTCACATCAA 0.547000 3 16 0 0 0.115264 0 0 FCRL1 115350 broad.mit.edu 37 1 157773775 157773775 + Missense_Mutation SNP G G A rs149142723 by1000genomes TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr1:157773775G>A ENST00000358292.3 - 3 230 c.179C>T c.(178-180)gCc>gTc p.A60V FCRL1_ENST00000368176.3_Missense_Mutation_p.A60V|FCRL1_ENST00000491942.1_Missense_Mutation_p.A60V|FCRL1_ENST00000489998.1_5'UTR NM_001159397.1 NP_001152869.1 Q96LA6 FCRL1_HUMAN Fc receptor-like 1 60 Ig-like C2-type 1. integral to membrane|plasma membrane receptor activity breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6) 42 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) TGGGCCCAAGGCCCGGGTGTC 0.582000 20 79 0 0 0.204396 0 0 DNAH5 1767 broad.mit.edu 37 5 13794128 13794128 + Missense_Mutation SNP T T C TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr5:13794128T>C ENST00000265104.4 - 48 8031 c.7927A>G c.(7927-7929)Aca>Gca p.T2643A NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2643 AAA 3 (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) GGGCCATATGTTGTACCCATT 0.378000 Kartagener syndrome 4 50 0 0 0.184627 0 0 OR5T2 219464 broad.mit.edu 37 11 55999910 55999910 + Missense_Mutation SNP A A G TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr11:55999910A>G ENST00000313264.4 - 1 827 c.752T>C c.(751-753)cTg>cCg p.L251P NM_001004746.1 NP_001004746.1 Q8NGG2 OR5T2_HUMAN olfactory receptor, family 5, subfamily T, member 2 251 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L251Q(1) endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3) 41 Esophageal squamous(21;0.00448) CAGAACAATCAGGATAGTGAC 0.443000 6 125 0 0 0.217242 0 0 ROBO4 54538 broad.mit.edu 37 11 124765507 124765507 + Silent SNP T T C TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr11:124765507T>C ENST00000306534.3 - 6 1367 c.882A>G c.(880-882)ggA>ggG p.G294G ROBO4_ENST00000533054.1_Silent_p.G149G NM_019055.5 NP_061928.4 Q8WZ75 ROBO4_HUMAN roundabout, axon guidance receptor, homolog 4 (Drosophila) 294 Fibronectin type-III 1. angiogenesis|cell differentiation integral to membrane receptor activity NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3) 76 all_hematologic(175;0.215) Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301) CCCACGGAGCTCCCTGGCCTC 0.647000 12 43 0 0 0.119110 0 0 KANK2 25959 broad.mit.edu 37 19 11286646 11286646 + Missense_Mutation SNP G G T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr19:11286646G>T ENST00000432929.2 - 8 2164 c.1804C>A c.(1804-1806)Ctc>Atc p.L602I KANK2_ENST00000586659.1_Missense_Mutation_p.L594I|KANK2_ENST00000589894.1_Missense_Mutation_p.L594I|KANK2_ENST00000589359.1_Missense_Mutation_p.L602I|KANK2_ENST00000355150.5_Missense_Mutation_p.L594I NM_001136191.2 NP_001129663.1 Q63ZY3 KANK2_HUMAN KN motif and ankyrin repeat domains 2 594 endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 GCTGAGATGAGGTCAGGGCTT 0.602000 3 23 0.00909568 0.00963072 0.150653 1 0 SATB2 23314 broad.mit.edu 37 2 200137209 200137209 + Nonsense_Mutation SNP C C A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr2:200137209C>A ENST00000443023.1 - 10 3215 c.1750G>T c.(1750-1752)Gaa>Taa p.E584* SATB2_ENST00000260926.5_Nonsense_Mutation_p.E643*|SATB2_ENST00000417098.1_Nonsense_Mutation_p.E643*|SATB2_ENST00000457245.1_Nonsense_Mutation_p.E643*|SATB2_ENST00000428695.1_Nonsense_Mutation_p.E525* Q9UPW6 SATB2_HUMAN SATB homeobox 2 643 cytoplasm|nuclear matrix sequence-specific DNA binding transcription factor activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 TGGATGGCTTCCTGGTCTGGG 0.532000 10 81 4.68919e-08 6.01029e-08 0.069234 1 0 HDGF 3068 broad.mit.edu 37 1 156714082 156714082 + Missense_Mutation SNP C C A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr1:156714082C>A ENST00000357325.5 - 4 676 c.362G>T c.(361-363)gGt>gTt p.G121V HDGF_ENST00000368209.5_Missense_Mutation_p.G114V|HDGF_ENST00000416666.2_Missense_Mutation_p.G89V|HDGF_ENST00000537739.1_Missense_Mutation_p.G121V|HDGF_ENST00000368206.5_Missense_Mutation_p.G137V|HDGF_ENST00000465180.1_5'UTR NM_004494.2 NP_004485.1 P51858 HDGF_HUMAN hepatoma-derived growth factor 121 Glu-rich. cell proliferation|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent cytoplasm|extracellular space|nucleus DNA binding|growth factor activity|heparin binding|nucleotide binding endometrium(1)|kidney(1)|large_intestine(1)|lung(6) 9 all_hematologic(923;0.088)|Hepatocellular(266;0.158) Breast(1374;0.198) Colorectal(1306;0.018) ATCACCGTCACCCTCTGCAGC 0.577000 85 263 3.89424e-36 5.54026e-36 0.139131 1 0 LY6D 8581 broad.mit.edu 37 8 143867036 143867036 + Silent SNP G G T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr8:143867036G>T ENST00000301263.4 - 2 195 c.120C>A c.(118-120)gcC>gcA p.A40A LY6D_ENST00000518434.1_5'UTR|RP11-706C16.8_ENST00000510610.2_RNA NM_003695.2 NP_003686.1 Q14210 LY6D_HUMAN lymphocyte antigen 6 complex, locus D 40 UPAR/Ly6. cell adhesion anchored to membrane|membrane fraction|plasma membrane protein binding large_intestine(1)|lung(3)|prostate(1) 5 all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) AGCGAGAGCTGGCCGGGCAGA 0.652000 7 16 1.76689e-08 2.29308e-08 0.058154 1 0 CRISP1 167 broad.mit.edu 37 6 49814333 49814333 + Missense_Mutation SNP C C A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr6:49814333C>A ENST00000335847.4 - 5 436 c.335G>T c.(334-336)tGg>tTg p.W112L CRISP1_ENST00000505118.1_Missense_Mutation_p.W112L|CRISP1_ENST00000355791.2_Missense_Mutation_p.W112L|CRISP1_ENST00000329411.5_Missense_Mutation_p.W112L|CRISP1_ENST00000507853.1_Missense_Mutation_p.W112L|CRISP1_ENST00000536021.1_Missense_Mutation_p.W112L NM_001131.2 NP_001122.2 P54107 CRIS1_HUMAN cysteine-rich secretory protein 1 112 fusion of sperm to egg plasma membrane extracellular space endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1) 27 Lung NSC(77;0.0358) TACACTTGACCATGATACAGG 0.393000 10 80 3.07112e-06 3.71767e-06 0.080935 1 0 GBA3 57733 broad.mit.edu 37 4 22749300 22749300 + RNA SNP C C G TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr4:22749300C>G ENST00000511446.1 + 0 671 GBA3_ENST00000503442.1_RNA|GBA3_ENST00000508166.1_RNA NM_001277225.1 NP_001264154.1 Q9H227 GBA3_HUMAN glucosidase, beta, acid 3 (gene/pseudogene) glycoside catabolic process|glycosylceramide catabolic process cytosol beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 GTGTCTCTATCACTTTTTGCG 0.433000 25 146 0 0 0.083992 0 0 PELI1 57162 broad.mit.edu 37 2 64323337 64323337 + Silent SNP T T C TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr2:64323337T>C ENST00000358912.4 - 6 1054 c.612A>G c.(610-612)ggA>ggG p.G204G NM_020651.3 NP_065702.2 Q96FA3 PELI1_HUMAN pellino E3 ubiquitin protein ligase 1 204 innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1) 19 CTCTCCATATTCCAGGCTTGG 0.438000 69 113 0 0 0.139131 0 0 PHACTR1 221692 broad.mit.edu 37 6 13160516 13160516 + Splice_Site SNP G G A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr6:13160516G>A ENST00000379350.1 + 5 625 c.496_splice c.e5+1 p.D166_splice PHACTR1_ENST00000457702.2_Splice_Site_p.D21_splice|PHACTR1_ENST00000379345.2_Splice_Site_p.D21_splice|PHACTR1_ENST00000482982.1_3'UTR|PHACTR1_ENST00000332995.7_Splice_Site_p.D166_splice Q9C0D0 PHAR1_HUMAN phosphatase and actin regulator 1 166 cell junction|cytoplasm|synapse actin binding|protein phosphatase inhibitor activity breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 26 Breast(50;0.0427)|Ovarian(93;0.12) all_hematologic(90;0.122)|Lung SC(78;0.195) Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239) CTATGATAAAGGTAAGGAGGA 0.428000 5 172 0 0 0.184627 0 0 TTN 7273 broad.mit.edu 37 2 179439236 179439236 + Missense_Mutation SNP T T C TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr2:179439236T>C ENST00000589042.1 - 326 71847 c.71623A>G c.(71623-71625)Act>Gct p.T23875A TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T15002A|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T21307A|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T14810A|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T22234A|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T14935A|TTN-AS1_ENST00000592600.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 22234 Ig-like 120. 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) TTGCTCACAGTCTGCCAGAGA 0.418000 16 138 0 0 0.160694 0 0 OR5T3 390154 broad.mit.edu 37 11 56019977 56019977 + Missense_Mutation SNP C C A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr11:56019977C>A ENST00000303059.3 + 1 302 c.302C>A c.(301-303)gCt>gAt p.A101D NM_001004747.1 NP_001004747.1 Q8NGG3 OR5T3_HUMAN olfactory receptor, family 5, subfamily T, member 3 101 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.A101V(1) 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) TTCTTGGATGCTTGCTATTCT 0.378000 6 63 0.00198382 0.00219014 0.248553 1 0 SPAM1 6677 broad.mit.edu 37 7 123594355 123594355 + Missense_Mutation SNP A A G TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr7:123594355A>G ENST00000340011.5 + 3 1088 c.731A>G c.(730-732)aAa>aGa p.K244R SPAM1_ENST00000402183.2_Missense_Mutation_p.K244R|SPAM1_ENST00000439500.1_Missense_Mutation_p.K244R|SPAM1_ENST00000223028.7_Missense_Mutation_p.K244R|SPAM1_ENST00000460182.1_Missense_Mutation_p.K244R NM_003117.4 NP_003108.2 P38567 HYALP_HUMAN sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) 244 binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane anchored to membrane|plasma membrane hyalurononglucosaminidase activity breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 Hyaluronidase(DB00070) GTAGAAATAAAAAGAAATGAT 0.398000 4 74 0 0 0.217242 0 0 TET2 54790 broad.mit.edu 37 4 106155397 106155397 + Nonsense_Mutation SNP G G T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr4:106155397G>T ENST00000513237.1 + 3 1158 c.361G>T c.(361-363)Gaa>Taa p.E121* TET2_ENST00000545826.1_Nonsense_Mutation_p.E100*|TET2_ENST00000540549.1_Nonsense_Mutation_p.E100*|TET2_ENST00000380013.4_Nonsense_Mutation_p.E100*|TET2_ENST00000305737.2_Nonsense_Mutation_p.E100*|TET2_ENST00000394764.1_Nonsense_Mutation_p.E100*|TET2_ENST00000413648.2_Nonsense_Mutation_p.E100* Q6N021 TET2_HUMAN tet methylcytosine dioxygenase 2 100 cell cycle|myeloid cell differentiation metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 1314 Myeloproliferative disorder(5;0.0393) OV - Ovarian serous cystadenocarcinoma(123;7.18e-08) CACAGTTAGTGAACCTTCTCT 0.428000 """Mis N, F""" MDS 25 100 2.48779e-11 3.35488e-11 0.108266 1 0 CEACAM20 125931 broad.mit.edu 37 19 45029235 45029235 + RNA SNP A A T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr19:45029235A>T ENST00000454753.1 - 0 373 Q6UY09 CEA20_HUMAN carcinoembryonic antigen-related cell adhesion molecule 20 integral to membrane central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1) 15 Prostate(69;0.0352) ATTGAGGGTGAGCTGGGCTGC 0.587000 22 196 0 0 0.264190 0 0 TREM1 54210 broad.mit.edu 37 6 41250157 41250157 + Missense_Mutation SNP G G T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr6:41250157G>T ENST00000591620.1 - 2 408 c.382C>A c.(382-384)Cgc>Agc p.R128S TREM1_ENST00000244709.4_Missense_Mutation_p.R128S|TREM1_ENST00000334475.6_Missense_Mutation_p.R128S|TREM1_ENST00000589614.1_Missense_Mutation_p.R128S NM_001242589.1 NP_001229518.1 Q9NP99 TREM1_HUMAN triggering receptor expressed on myeloid cells 1 128 Ig-like V-type. blood coagulation|humoral immune response|intracellular signal transduction|leukocyte migration extracellular region|integral to membrane|intracellular|plasma membrane receptor activity NS(1)|breast(2)|endometrium(2)|large_intestine(5)|lung(5)|skin(1) 16 Ovarian(28;0.0327)|Colorectal(47;0.196) Glutathione(DB00143) AAGCGGATGCGATCGAACAGC 0.562000 7 52 0.00307968 0.00338193 0.038147 1 0 NRXN1 9378 broad.mit.edu 37 2 50765733 50765733 + Missense_Mutation SNP G G T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr2:50765733G>T ENST00000404971.1 - 11 3260 c.1921C>A c.(1921-1923)Cct>Act p.P641T NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000405472.3_Missense_Mutation_p.P593T|NRXN1_ENST00000401669.2_Missense_Mutation_p.P601T|NRXN1_ENST00000406316.2_Missense_Mutation_p.P601T|NRXN1_ENST00000402717.3_Missense_Mutation_p.P593T|NRXN1_ENST00000406859.3_Missense_Mutation_p.P601T NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 601 Laminin G-like 3. 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) CTCTCACCAGGAGCAGTGTAG 0.483000 18 57 1.67942e-08 2.18641e-08 0.175082 1 0 SNAI2 6591 broad.mit.edu 37 8 49832983 49832983 + Missense_Mutation SNP G G C TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr8:49832983G>C ENST00000396822.1 - 3 454 c.97C>G c.(97-99)Ctc>Gtc p.L33V SNAI2_ENST00000020945.1_Missense_Mutation_p.L33V O43623 SNAI2_HUMAN snail family zinc finger 2 33 canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1) 18 all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502) CTCTCATAGAGATACGGGGAA 0.443000 14 82 0 0 0.132662 0 0 MTNR1A 4543 broad.mit.edu 37 4 187455200 187455200 + Missense_Mutation SNP C C A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr4:187455200C>A ENST00000307161.5 - 2 897 c.696G>T c.(694-696)caG>caT p.Q232H RP11-215A19.2_ENST00000509111.1_Intron NM_005958.3 NP_005949.1 P48039 MTR1A_HUMAN melatonin receptor 1A 232 circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior integral to plasma membrane melatonin receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 14 all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202) OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159) Melatonin(DB01065)|Ramelteon(DB00980) TCCTGAAGTCCTGTGGTTTCA 0.493000 7 85 1.06961e-07 1.35006e-07 0.038147 1 0 FAM45B 55855 broad.mit.edu 37 X 129629602 129629602 + RNA SNP G G T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chrX:129629602G>T ENST00000458525.1 - 0 1015 FAM45B_ENST00000592932.1_RNA TACCCGGCTGGCTCCATCAAA 0.428000 24 64 2.44723e-14 3.37718e-14 0.099896 1 0 DRD3 1814 broad.mit.edu 37 3 113849973 113849973 + Missense_Mutation SNP A A G TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr3:113849973A>G ENST00000383673.2 - 6 1428 c.998T>C c.(997-999)aTt>aCt p.I333T DRD3_ENST00000460779.1_Missense_Mutation_p.I333T|DRD3_ENST00000295881.7_Missense_Mutation_p.I300T|DRD3_ENST00000467632.1_Missense_Mutation_p.I333T NM_000796.3 NP_000787.2 P35462 DRD3_HUMAN dopamine receptor D3 333 activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning integral to plasma membrane dopamine D3 receptor activity|drug binding central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1) 36 Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246) ACCAAGCACAATGGCCACCAT 0.493000 6 36 0 0 0.217242 0 0 RFC2 5982 broad.mit.edu 37 7 73661077 73661077 + Missense_Mutation SNP T T C TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr7:73661077T>C ENST00000055077.3 - 5 409 c.349A>G c.(349-351)Agg>Ggg p.R117G RFC2_ENST00000352131.3_Intron NM_181471.1 NP_852136.1 P35250 RFC2_HUMAN replication factor C (activator 1) 2, 40kDa 117 cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|protein binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(3) 8 ATTTTATTCCTCACAACGTCA 0.408000 7 28 0 0 0.248553 0 0 ADC 113451 broad.mit.edu 37 1 33567486 33567486 + Missense_Mutation SNP C C A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr1:33567486C>A ENST00000358680.3 + 8 1195 c.608C>A c.(607-609)gCc>gAc p.A203D ADC_ENST00000398167.1_Intron|ADC_ENST00000373440.1_Missense_Mutation_p.A203D|ADC_ENST00000484656.1_Intron|ADC_ENST00000373441.1_Intron|ADC_ENST00000373443.3_Intron|ADC_ENST00000294517.6_Intron Q96A70 ADC_HUMAN arginine decarboxylase 0 polyamine biosynthetic process|spermatogenesis cytosol arginine decarboxylase activity NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2) 11 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837) L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114) catttcattgccgtgtagcgc 0.428000 4 48 0.00024832 0.00027936 0.150653 1 0 KIAA1919 91749 broad.mit.edu 37 6 111585053 111585053 + Missense_Mutation SNP A A G TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr6:111585053A>G ENST00000368847.4 + 3 570 c.217A>G c.(217-219)Acc>Gcc p.T73A NM_153369.2 NP_699200.2 Q5TF39 NAGT1_HUMAN KIAA1919 73 carbohydrate transport|sodium ion transport apical plasma membrane|integral to membrane symporter activity large_intestine(3)|lung(2)|ovary(4)|skin(3) 12 all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209) OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884) GTCGGCTACCACCGTTGGTCT 0.378000 3 29 0 0 0.115264 0 0 IL12A-AS1 101928376 broad.mit.edu 37 3 159820152 159820152 + RNA SNP G G T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr3:159820152G>T ENST00000497452.1 - 0 517 CAGGGCGTTTGGAGTCCAATA 0.428000 8 55 2.62144e-13 3.55828e-13 0.047766 1 0 PPP1R3A 5506 broad.mit.edu 37 7 113518398 113518398 + Missense_Mutation SNP A A G TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr7:113518398A>G ENST00000284601.3 - 4 2817 c.2749T>C c.(2749-2751)Tcc>Ccc p.S917P NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 917 glycogen metabolic process integral to membrane NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2) 121 TGATGTTTGGAAAAAGGAGAG 0.398000 7 118 0 0 0.248553 0 0 MTMR6 9107 broad.mit.edu 37 13 25840012 25840012 + Missense_Mutation SNP T T G TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr13:25840012T>G ENST00000381801.5 - 5 1297 c.536A>C c.(535-537)aAg>aCg p.K179T MTMR6_ENST00000540661.1_Missense_Mutation_p.K179T NM_004685.3 NP_004676.3 Q9Y217 MTMR6_HUMAN myotubularin related protein 6 179 Myotubularin phosphatase. cytoplasm|nuclear envelope calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3) 36 Lung SC(185;0.0225)|Breast(139;0.0351) all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164) GCTCCGGAACTTGGAACTACC 0.363000 10 112 0 0 0.069234 0 0 PCDH15 65217 broad.mit.edu 37 10 55943337 55943337 + Missense_Mutation SNP C C T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr10:55943337C>T ENST00000373965.2 - 14 1872 c.1478G>A c.(1477-1479)gGt>gAt p.G493D PCDH15_ENST00000395446.1_Missense_Mutation_p.G486D|PCDH15_ENST00000437009.1_Missense_Mutation_p.G486D|PCDH15_ENST00000395445.1_Missense_Mutation_p.G493D|PCDH15_ENST00000414778.1_Missense_Mutation_p.G491D|PCDH15_ENST00000395430.1_Missense_Mutation_p.G486D|PCDH15_ENST00000409834.1_Missense_Mutation_p.G97D|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.G486D|PCDH15_ENST00000373957.3_Missense_Mutation_p.G464D|PCDH15_ENST00000373955.1_Missense_Mutation_p.G486D|PCDH15_ENST00000395438.1_Missense_Mutation_p.G486D|PCDH15_ENST00000361849.3_Missense_Mutation_p.G486D|PCDH15_ENST00000395433.1_Missense_Mutation_p.G464D|PCDH15_ENST00000395432.2_Missense_Mutation_p.G449D NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 486 Cadherin 4. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) TTCTTGTACACCATCAAATGC 0.358000 HNSCC(58;0.16) 8 70 0 0 0.038147 0 0 FAM131A 131408 broad.mit.edu 37 3 184059582 184059582 + Missense_Mutation SNP C C T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr3:184059582C>T ENST00000340957.5 + 3 319 c.47C>T c.(46-48)gCg>gTg p.A16V FAM131A_ENST00000453072.1_Missense_Mutation_p.A16V|FAM131A_ENST00000450976.1_Missense_Mutation_p.A16V|FAM131A_ENST00000383847.2_Missense_Mutation_p.A101V|EIF2B5_ENST00000444495.1_Intron|FAM131A_ENST00000418281.1_Intron|FAM131A_ENST00000310585.4_5'UTR NM_001171093.1 NP_001164564.1 Q6UXB0 F131A_HUMAN family with sequence similarity 131, member A 0 extracellular region p.A101V(1) breast(1)|endometrium(1)|large_intestine(2)|lung(9)|skin(1) 14 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) GAGATCGCTGCGCTGGCCAGG 0.557000 20 145 0 0 0.219247 0 0 MYH1 4619 broad.mit.edu 37 17 10402375 10402375 + Silent SNP T T A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr17:10402375T>A ENST00000226207.5 - 29 3994 c.3900A>T c.(3898-3900)acA>acT p.T1300T CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1300 muscle myosin complex|myofibril|myosin filament actin binding|ATP 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 GTGAAACTAGTGTGTCCTTTT 0.393000 13 103 0 0 0.093190 0 0 POMGNT1 55624 broad.mit.edu 37 1 46657877 46657877 + Missense_Mutation SNP A A G TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr1:46657877A>G ENST00000371992.1 - 17 2082 c.1432T>C c.(1432-1434)Tgg>Cgg p.W478R POMGNT1_ENST00000371984.3_Missense_Mutation_p.W478R|POMGNT1_ENST00000396420.3_3'UTR|POMGNT1_ENST00000485714.1_5'UTR|POMGNT1_ENST00000371986.3_Missense_Mutation_p.W478R|POMGNT1_ENST00000535522.1_Missense_Mutation_p.W456R NM_001243766.1 NP_001230695.1 Q8WZA1 PMGT1_HUMAN protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 478 protein N-linked glycosylation|protein O-linked glycosylation Golgi membrane|integral to membrane|microsome alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 20 Acute lymphoblastic leukemia(166;0.155) ATCCGCATCCACATGTCCCAA 0.562000 12 66 0 0 0.080935 0 0 NEK10 152110 broad.mit.edu 37 3 27297818 27297818 + Missense_Mutation SNP T T C TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr3:27297818T>C ENST00000429845.2 - 24 2421 c.2059A>G c.(2059-2061)Acc>Gcc p.T687A NEK10_ENST00000357467.2_Missense_Mutation_p.T84A|NEK10_ENST00000341435.5_Missense_Mutation_p.T687A Q6ZWH5 NEK10_HUMAN NIMA-related kinase 10 687 Protein kinase. ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 ACCACAGAGGTGAGTTTACTG 0.343000 7 12 0 0 0.038147 0 0 ACAT2 39 broad.mit.edu 37 6 160199778 160199778 + Missense_Mutation SNP G G C TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr6:160199778G>C ENST00000367048.4 + 9 2871 c.1111G>C c.(1111-1113)Gag>Cag p.E371Q ACAT2_ENST00000472052.1_3'UTR|ACAT2_ENST00000541436.1_Missense_Mutation_p.E400Q|TCP1_ENST00000321394.7_3'UTR NM_005891.2 NP_005882.2 Q9BWD1 THIC_HUMAN acetyl-CoA acetyltransferase 2 371 mitochondrion|nucleolus acetyl-CoA C-acetyltransferase activity|protein binding breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1) 9 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;1.51e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06) ACACACACTGGAGAGAATGGG 0.502000 6 70 0 0 0.038147 0 0 ZFHX4 79776 broad.mit.edu 37 8 77767647 77767647 + Silent SNP C C A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr8:77767647C>A ENST00000521891.2 + 10 8938 c.8490C>A c.(8488-8490)tcC>tcA p.S2830S ZFHX4_ENST00000455469.2_Silent_p.S2785S|ZFHX4_ENST00000050961.6_Silent_p.S2785S|ZFHX4_ENST00000518282.1_Silent_p.S2804S NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 2785 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.S2814S(1) NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) CAGGAAGTTCCGGAGATGTGA 0.488000 HNSCC(33;0.089) 15 52 2.23348e-06 2.74381e-06 0.146539 1 0 TPO 7173 broad.mit.edu 37 2 1457533 1457533 + Missense_Mutation SNP G G A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr2:1457533G>A ENST00000345913.4 + 6 641 c.550G>A c.(550-552)Ggc>Agc p.G184S TPO_ENST00000382201.3_Missense_Mutation_p.G184S|TPO_ENST00000382198.1_Missense_Mutation_p.G184S|TPO_ENST00000497517.2_Intron|TPO_ENST00000349624.3_Missense_Mutation_p.G184S|TPO_ENST00000346956.3_Missense_Mutation_p.G184S|TPO_ENST00000337415.3_Missense_Mutation_p.G184S|TPO_ENST00000329066.4_Missense_Mutation_p.G184S NM_000547.5 NP_000538.3 P07202 PERT_HUMAN thyroid peroxidase 184 cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) CTATGAGGACGGCTTCAGTCA 0.587000 4 16 0 0 0.184627 0 0 KRT15 3866 broad.mit.edu 37 17 39671752 39671752 + Missense_Mutation SNP G G C rs138894344 TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr17:39671752G>C ENST00000254043.3 - 6 4804 c.1219C>G c.(1219-1221)Cgc>Ggc p.R407G KRT15_ENST00000393981.3_Missense_Mutation_p.R242G|KRT15_ENST00000393976.2_Missense_Mutation_p.R407G|KRT15_ENST00000393974.3_Missense_Mutation_p.R242G NM_002275.3 NP_002266.2 P19012 K1C15_HUMAN keratin 15 407 Coil 2.|Rod. epidermis development intermediate filament protein binding|structural constituent of cytoskeleton NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 Breast(137;0.000286) AGCAGGCTGCGGTAAGTAGCG 0.592000 7 29 0 0 0.038147 0 0 TCERG1L 256536 broad.mit.edu 37 10 132944790 132944790 + Missense_Mutation SNP G G T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr10:132944790G>T ENST00000368642.4 - 7 1253 c.1168C>A c.(1168-1170)Cgc>Agc p.R390S NM_174937.3 NP_777597.2 Q5VWI1 TCRGL_HUMAN transcription elongation regulator 1-like 390 cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 31 all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09) all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276) TCCAGCTTGCGTTTGTGGGGC 0.498000 7 43 0.00307968 0.00338193 0.038147 1 0 AHNAK2 113146 broad.mit.edu 37 14 105409427 105409427 + Silent SNP G G A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr14:105409427G>A ENST00000333244.5 - 7 12480 c.12361C>T c.(12361-12363)Ctg>Ttg p.L4121L AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 4121 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) TTGTCGGCCAGGGACAGGTCC 0.587000 3 73 0 0 0.184627 0 0 KIF13B 23303 broad.mit.edu 37 8 28998003 28998003 + Silent SNP G G A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr8:28998003G>A ENST00000524189.1 - 20 2504 c.2466C>T c.(2464-2466)atC>atT p.I822I CTD-2647L4.1_ENST00000523661.1_RNA|CTD-2647L4.1_ENST00000517632.1_RNA NM_015254.3 NP_056069.2 Q9NQT8 KI13B_HUMAN kinesin family member 13B 822 microtubule-based movement|protein targeting|signal transduction|T cell activation cytoplasm|microtubule ATP binding|microtubule motor activity|protein kinase binding endometrium(6)|kidney(1)|lung(20)|urinary_tract(1) 28 Ovarian(32;0.000536) KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181) TCTGGTTGATGATGGGAACAG 0.413000 9 59 0 0 0.058154 0 0 DMRTB1 63948 broad.mit.edu 37 1 53927166 53927166 + Missense_Mutation SNP C C A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr1:53927166C>A ENST00000371445.3 + 2 653 c.598C>A c.(598-600)Ccg>Acg p.P200T DMRTB1_ENST00000463126.1_3'UTR NM_033067.1 NP_149056.1 Q96MA1 DMRTB_HUMAN DMRT-like family B with proline-rich C-terminal, 1 200 Pro-rich. sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity large_intestine(3)|lung(5)|ovary(1)|skin(1) 10 GAACATCAACCCGGACCGTGC 0.662000 6 44 5.4927e-09 7.17344e-09 0.047766 1 0 COL14A1 7373 broad.mit.edu 37 8 121259925 121259925 + Silent SNP C C T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr8:121259925C>T ENST00000297848.3 + 21 2823 c.2553C>T c.(2551-2553)ccC>ccT p.P851P COL14A1_ENST00000247781.3_Silent_p.P756P|COL14A1_ENST00000309791.4_Silent_p.P851P|COL14A1_ENST00000432943.2_3'UTR NM_021110.1 NP_066933.1 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 851 Fibronectin type-III 7. 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) CGTGGGACCCCCCATCTTCCC 0.453000 5 91 0 0 0.184627 0 0 LRP1B 53353 broad.mit.edu 37 2 141027875 141027875 + Missense_Mutation SNP C C A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr2:141027875C>A ENST00000389484.3 - 86 14154 c.13183G>T c.(13183-13185)Gat>Tat p.D4395Y NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 4395 EGF-like 14. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding p.D4395Y(1) NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) CAGTAGCCATCACATAACTGA 0.398000 TSP Lung(27;0.18) 23 42 1.30998e-17 1.82604e-17 0.225048 1 0 MADD 8567 broad.mit.edu 37 11 47345285 47345285 + Missense_Mutation SNP G G A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr11:47345285G>A ENST00000342922.4 + 28 4621 c.4264G>A c.(4264-4266)Gag>Aag p.E1422K MADD_ENST00000311027.5_Missense_Mutation_p.E1481K|MADD_ENST00000402192.2_Missense_Mutation_p.E1421K|MADD_ENST00000395336.3_Missense_Mutation_p.E1481K|MADD_ENST00000407859.3_Missense_Mutation_p.E1399K|MADD_ENST00000406482.1_Missense_Mutation_p.E1379K|MADD_ENST00000405573.2_Missense_Mutation_p.E291K|MADD_ENST00000402799.1_Missense_Mutation_p.E1379K|MADD_ENST00000395344.3_Missense_Mutation_p.E1375K|MADD_ENST00000349238.3_Missense_Mutation_p.E1442K NM_130470.2 NP_569826.2 Q8WXG6 MADD_HUMAN MAP-kinase activating death domain 1481 activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle cytoplasm|integral to membrane|plasma membrane death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 84 Lung(87;0.182) CTGGTGGTACGAGAAGCTCAT 0.498000 6 61 0 0 0.217242 0 0 PRELP 5549 broad.mit.edu 37 1 203452736 203452736 + Missense_Mutation SNP G G A rs56086342 TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr1:203452736G>A ENST00000343110.2 + 2 551 c.424G>A c.(424-426)Gac>Aac p.D142N NM_002725.3|NM_201348.1 NP_002716.1|NP_958505.1 P51888 PRELP_HUMAN proline/arginine-rich end leucine-rich repeat protein 142 skeletal system development proteinaceous extracellular matrix extracellular matrix structural constituent breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 BRCA - Breast invasive adenocarcinoma(75;0.109) CCGCAAGATAGACCAGAGGGT 0.572000 27 105 0 0 0.183431 0 0 BMP1 649 broad.mit.edu 37 8 22035126 22035126 + Silent SNP T T C TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr8:22035126T>C ENST00000354870.5 + 6 1043 c.777T>C c.(775-777)aaT>aaC p.N259N BMP1_ENST00000306349.8_Intron|BMP1_ENST00000397816.3_Intron|BMP1_ENST00000306385.5_Intron|BMP1_ENST00000397814.3_Intron P13497 BMP1_HUMAN bone morphogenetic protein 1 0 Metalloprotease. cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis extracellular space calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3) 30 Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11) GCTCTAGAAATGGTGCTTCCT 0.582000 9 202 0 0 0.047766 0 0 ADAM2 2515 broad.mit.edu 37 8 39678647 39678647 + Silent SNP G G A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr8:39678647G>A ENST00000265708.4 - 6 490 c.387C>T c.(385-387)ccC>ccT p.P129P ADAM2_ENST00000379853.2_Silent_p.P129P|ADAM2_ENST00000523181.1_5'UTR|ADAM2_ENST00000347580.4_Silent_p.P129P|ADAM2_ENST00000521880.1_Silent_p.P129P NM_001464.3 NP_001455.3 Q99965 ADAM2_HUMAN ADAM metallopeptidase domain 2 129 cell adhesion|fusion of sperm to egg plasma membrane|proteolysis integral to plasma membrane integrin binding|metalloendopeptidase activity|zinc ion binding haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1) 53 all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246) LUSC - Lung squamous cell carcinoma(45;0.000149) READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162) AAGACTCCAGGGGTTCTATTC 0.313000 3 46 0 0 0.150653 0 0 MAGEC1 9947 broad.mit.edu 37 X 140994078 140994078 + Missense_Mutation SNP G G C TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chrX:140994078G>C ENST00000285879.4 + 4 1174 c.888G>C c.(886-888)gaG>gaC p.E296D MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 296 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) GTACTTTTGAGGGTTTTCCCC 0.498000 HNSCC(15;0.026) 10 56 0 0 0.203993 0 0 GRIK2 2898 broad.mit.edu 37 6 102069929 102069929 + Missense_Mutation SNP C C G TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr6:102069929C>G ENST00000369138.1 + 2 711 c.221C>G c.(220-222)aCt>aGt p.T74S GRIK2_ENST00000369137.3_Missense_Mutation_p.T74S|GRIK2_ENST00000421544.1_Missense_Mutation_p.T74S|GRIK2_ENST00000413795.1_Missense_Mutation_p.T74S|GRIK2_ENST00000369134.4_Missense_Mutation_p.T25S|GRIK2_ENST00000358361.3_Missense_Mutation_p.T74S|GRIK2_ENST00000318991.6_Missense_Mutation_p.T74S NM_001166247.1 NP_001159719.1 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 74 glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) CTACCCAATACTACCCTTACC 0.358000 15 59 0 0 0.160694 0 0 SORCS1 114815 broad.mit.edu 37 10 108439018 108439018 + Missense_Mutation SNP C C A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr10:108439018C>A ENST00000263054.6 - 12 1743 c.1736G>T c.(1735-1737)aGa>aTa p.R579I SORCS1_ENST00000344440.6_Missense_Mutation_p.R579I|SORCS1_ENST00000369698.1_Missense_Mutation_p.R114I NM_001206570.1|NM_052918.4 NP_001193499.1|NP_443150.3 Q8WY21 SORC1_HUMAN sortilin-related VPS10 domain containing receptor 1 579 integral to membrane neuropeptide receptor activity|protein binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 127 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) TCTTACCTGTCTCCAGGTGTT 0.413000 7 69 0.0477658 0.0495615 0.047766 1 0 FLG 2312 broad.mit.edu 37 1 152276508 152276508 + Silent SNP T T G TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr1:152276508T>G ENST00000368799.1 - 3 10889 c.10854A>C c.(10852-10854)gcA>gcC p.A3618A FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 3618 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CACTTGATCTTGCCTGTTCAT 0.557000 Ichthyosis 12 329 0 0 0.160694 0 0 PLCB3 5331 broad.mit.edu 37 11 64029061 64029061 + Nonsense_Mutation SNP A A T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr11:64029061A>T ENST00000540288.1 + 16 1940 c.1837A>T c.(1837-1839)Aaa>Taa p.K613* PLCB3_ENST00000325234.5_Nonsense_Mutation_p.K546*|PLCB3_ENST00000279230.6_Nonsense_Mutation_p.K613* NM_000932.2 NP_000923.1 Q01970 PLCB3_HUMAN phospholipase C, beta 3 (phosphatidylinositol-specific) 613 PI-PLC Y-box. intracellular signal transduction|lipid catabolic process|synaptic transmission cytosol calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1) 33 AGAGAGGAACAAATGCTTCGA 0.577000 7 25 0 0 0.248553 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110394800 110394800 + Splice_Site SNP C C T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr8:110394800C>T ENST00000378402.5 + 4 521 c.417_splice c.e4+1 p.N139_splice NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 139 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) GTACCTTCAACGTATGTAGGA 0.393000 HNSCC(38;0.096) 17 94 0 0 0.146539 0 0 SNX29 92017 broad.mit.edu 37 16 12371874 12371874 + Missense_Mutation SNP A A G TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr16:12371874A>G ENST00000566228.1 + 15 1832 c.1763A>G c.(1762-1764)tAc>tGc p.Y588C SNX29_ENST00000323433.4_Missense_Mutation_p.Y203C|SNX29_ENST00000306030.3_Missense_Mutation_p.Y203C NM_032167.3 NP_115543.3 Q8TEQ0 SNX29_HUMAN sorting nexin 29 203 cell communication phosphatidylinositol binding endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 7 GCAAGCTCCTACGAAAGAAAG 0.478000 4 67 0 0 0.150653 0 0 GLDN 342035 broad.mit.edu 37 15 51696918 51696918 + Silent SNP T T C TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr15:51696918T>C ENST00000335449.6 + 10 1679 c.1623T>C c.(1621-1623)ccT>ccC p.P541P GLDN_ENST00000396399.2_Silent_p.P417P NM_181789.2 NP_861454.2 Q6ZMI3 GLDN_HUMAN gliomedin 541 Olfactomedin-like. cell differentiation|nervous system development collagen|integral to membrane|plasma membrane central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 19 all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942) TGCTTTATCCTGTGCAGTTTT 0.423000 4 96 0 0 0.150653 0 0 SYPL2 284612 broad.mit.edu 37 1 110018304 110018304 + Missense_Mutation SNP C C G TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr1:110018304C>G ENST00000369872.3 + 3 447 c.231C>G c.(229-231)atC>atG p.I77M SYPL2_ENST00000475497.1_3'UTR|SYPL2_ENST00000401021.3_Missense_Mutation_p.I77M NM_001040709.1 NP_001035799.1 Q5VXT5 SYPL2_HUMAN synaptophysin-like 2 77 MARVEL. integral to membrane|synaptic vesicle transporter activity breast(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 16 all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231) GCTCCATCATCGTTGCATTTG 0.537000 6 58 0 0 0.248553 0 0 CYP1A1 1543 broad.mit.edu 37 15 75013388 75013388 + Silent SNP T T G TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr15:75013388T>G ENST00000379727.3 - 6 1371 c.1173A>C c.(1171-1173)acA>acC p.T391T CYP1A1_ENST00000567032.1_Silent_p.T391T|CYP1A1_ENST00000564596.1_Silent_p.T130T|CYP1A1_ENST00000395048.2_Silent_p.T391T|CYP1A1_ENST00000395049.4_Intron P04798 CP1A1_HUMAN cytochrome P450, family 1, subfamily A, polypeptide 1 391 cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730) TTGTGTCTCTTGTTGTGCTAG 0.502000 Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia 3 50 0 0 0.115264 0 0 LMX1A 4009 broad.mit.edu 37 1 165218775 165218775 + Nonsense_Mutation SNP G G T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr1:165218775G>T ENST00000342310.3 - 4 748 c.366C>A c.(364-366)tgC>tgA p.C122* LMX1A_ENST00000294816.2_Nonsense_Mutation_p.C122*|LMX1A_ENST00000367893.4_Nonsense_Mutation_p.C122* NM_177398.3 NP_796372.1 Q8TE12 LMX1A_HUMAN LIM homeobox transcription factor 1, alpha 122 LIM zinc-binding 2. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4) 35 all_hematologic(923;0.248) CGCAGACACAGCAGCAGAAGC 0.552000 15 42 0.0332995 0.0346382 0.160694 1 0 STAG1 10274 broad.mit.edu 37 3 136068096 136068096 + Missense_Mutation SNP C C G TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr3:136068096C>G ENST00000383202.2 - 29 3431 c.3175G>C c.(3175-3177)Gat>Cat p.D1059H STAG1_ENST00000236698.5_Missense_Mutation_p.D1059H|STAG1_ENST00000434713.2_Missense_Mutation_p.D799H|STAG1_ENST00000536929.1_Missense_Mutation_p.D643H NM_005862.2 NP_005853.2 Q8WVM7 STAG1_HUMAN stromal antigen 1 1059 cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase cell junction|chromatin|chromosome, centromeric region|nucleoplasm protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 GACATTCTATCATCTTCACCC 0.428000 9 29 0 0 0.093190 0 0 TTBK1 84630 broad.mit.edu 37 6 43237441 43237441 + Missense_Mutation SNP G G C TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr6:43237441G>C ENST00000304139.5 + 13 2056 c.1894G>C c.(1894-1896)Gcg>Ccg p.A632P TTBK1_ENST00000259750.4_Intron Q5TCY1 TTBK1_HUMAN tau tubulin kinase 1 1245 cell junction|cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399) GCGACGACTGGCGTCCTCCGT 0.647000 33 28 0 0 0.139131 0 0 TXNDC11 51061 broad.mit.edu 37 16 11829940 11829940 + Missense_Mutation SNP G G T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr16:11829940G>T ENST00000356957.3 - 2 511 c.404C>A c.(403-405)cCt>cAt p.P135H TXNDC11_ENST00000283033.5_Missense_Mutation_p.P135H Q6PKC3 TXD11_HUMAN thioredoxin domain containing 11 135 Thioredoxin 1. cell redox homeostasis endoplasmic reticulum membrane|integral to membrane endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 TCCACACCAAGGGGCATAGAA 0.507000 7 166 0.00448238 0.00488344 0.047766 1 0 RUNX1T1 862 broad.mit.edu 37 8 92982976 92982976 + Missense_Mutation SNP C C A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr8:92982976C>A ENST00000523629.1 - 11 1903 c.1449G>T c.(1447-1449)agG>agT p.R483S RUNX1T1_ENST00000520724.1_Missense_Mutation_p.R446S|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.R456S|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.R494S|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.R456S|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.R446S|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.R483S|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.R446S NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2 NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1 Q06455 MTG8_HUMAN runt-related transcription factor 1; translocated to, 1 (cyclin D-related) 483 generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 86 BRCA - Breast invasive adenocarcinoma(11;0.0141) CCATCTTGGCCCTCTCTGTTG 0.622000 10 19 0.0135373 0.0142607 0.093190 1 0 HYAL4 23553 broad.mit.edu 37 7 123516914 123516914 + Missense_Mutation SNP A A G TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr7:123516914A>G ENST00000223026.4 + 5 1789 c.1151A>G c.(1150-1152)aAt>aGt p.N384S HYAL4_ENST00000476325.1_Missense_Mutation_p.N384S NM_012269.2 NP_036401.2 Q2M3T9 HYAL4_HUMAN hyaluronoglucosaminidase 4 384 fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process integral to membrane hyalurononglucosaminidase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 23 TGCAGGAACAATGGCAGGTGC 0.502000 8 32 0 0 0.058154 0 0 CEP350 9857 broad.mit.edu 37 1 179983551 179983551 + Missense_Mutation SNP A A G TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr1:179983551A>G ENST00000367607.3 + 10 2381 c.1963A>G c.(1963-1965)Agg>Ggg p.R655G NM_014810.4 NP_055625.4 Q5VT06 CE350_HUMAN centrosomal protein 350kDa 655 centrosome|nucleus|spindle central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 66 ATCAGCAACTAGGCGACTACA 0.413000 13 32 0 0 0.132662 0 0 HHLA3 11147 broad.mit.edu 37 1 70820791 70820791 + Missense_Mutation SNP G G T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr1:70820791G>T ENST00000359875.5 + 1 297 c.157G>T c.(157-159)Gta>Tta p.V53L HHLA3_ENST00000531950.1_Missense_Mutation_p.V53L|HHLA3_ENST00000432224.1_Missense_Mutation_p.V53L|HHLA3_ENST00000361764.4_Splice_Site|HHLA3_ENST00000486110.1_3'UTR|HHLA3_ENST00000370940.5_Missense_Mutation_p.V53L NM_001036645.1 NP_001031722.1 Q9XRX5 HHLA3_HUMAN HERV-H LTR-associating 3 53 protein binding large_intestine(3)|lung(1) 4 acttcgtgccgtatgtacgaa 0.493000 5 21 4.096e-09 5.36628e-09 0.217242 1 0 AOC3 8639 broad.mit.edu 37 17 41003593 41003593 + Missense_Mutation SNP G G T rs402680 TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr17:41003593G>T ENST00000308423.2 + 1 393 c.233G>T c.(232-234)cGg>cTg p.R78L NM_003734.2 NP_003725.1 Q16853 AOC3_HUMAN amine oxidase, copper containing 3 78 R -> Q (in dbSNP:rs402680). amine metabolic process|cell adhesion|inflammatory response cell surface|integral to membrane|plasma membrane aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8) 41 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.156) Hydralazine(DB01275)|Phenelzine(DB00780) CTGACCCAGCGGCTGGGGCCA 0.657000 7 87 2.74318e-10 3.66347e-10 0.058154 1 0 KCNT2 343450 broad.mit.edu 37 1 196227513 196227513 + Missense_Mutation SNP G G A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr1:196227513G>A ENST00000367433.5 - 25 3051 c.2950C>T c.(2950-2952)Ccc>Tcc p.P984S KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000294725.8_Missense_Mutation_p.P1008S|KCNT2_ENST00000367431.4_Missense_Mutation_p.P942S|KCNT2_ENST00000451324.2_3'UTR Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 1008 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 CGCAGCAAGGGATGGTCCGAC 0.507000 12 45 0 0 0.093190 0 0 ADD2 119 broad.mit.edu 37 2 70900436 70900436 + Silent SNP T T C TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr2:70900436T>C ENST00000355733.3 - 15 2208 c.1764A>G c.(1762-1764)ccA>ccG p.P588P ADD2_ENST00000407644.2_Intron|ADD2_ENST00000264436.3_Intron NM_017488.3 NP_059522.1 P35612 ADDB_HUMAN adducin 2 (beta) 590 actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding cytoplasm|F-actin capping protein complex|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 GACCAGAGCCTGGCTCTCGTT 0.542000 23 67 0 0 0.091800 0 0 SPG11 80208 broad.mit.edu 37 15 44862813 44862813 + Silent SNP C C T rs150121550 by1000genomes TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr15:44862813C>T ENST00000261866.7 - 34 6403 c.6387G>A c.(6385-6387)acG>acA p.T2129T SPG11_ENST00000535302.2_Silent_p.T2016T|SPG11_ENST00000427534.2_Silent_p.T2129T NM_025137.3 NP_079413.3 Q96JI7 SPTCS_HUMAN spastic paraplegia 11 (autosomal recessive) 2129 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) CCATGTGGCACGTCAGGGTGA 0.582000 3 13 0 0 0.115264 0 0 ZNF184 7738 broad.mit.edu 37 6 27419946 27419946 + Silent SNP G G A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr6:27419946G>A ENST00000211936.6 - 6 1676 c.1392C>T c.(1390-1392)caC>caT p.H464H ZNF184_ENST00000377419.1_Silent_p.H464H NM_007149.2 NP_009080.2 Q99676 ZN184_HUMAN zinc finger protein 184 464 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 48 GAATTTTCAGGTGTTGAGCAA 0.408000 6 55 0 0 0.217242 0 0 ELMO1 9844 broad.mit.edu 37 7 36934500 36934500 + Silent SNP G G T rs140840691 TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr7:36934500G>T ENST00000310758.4 - 17 2207 c.1560C>A c.(1558-1560)tcC>tcA p.S520S ELMO1_ENST00000396045.3_Silent_p.S40S|ELMO1_ENST00000448602.1_Silent_p.S520S|ELMO1_ENST00000341056.3_Silent_p.S222S|ELMO1_ENST00000442504.1_Silent_p.S520S|ELMO1_ENST00000396040.2_Silent_p.S40S NM_001206480.1|NM_014800.10 NP_001193409.1|NP_055615.8 Q92556 ELMO1_HUMAN engulfment and cell motility 1 520 actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|plasma membrane SH3 domain binding p.S520S(1) breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 58 TCATCCTCTCGGACTGGCGGA 0.463000 17 39 3.41278e-10 4.54306e-10 0.160694 1 0 GLDN 342035 broad.mit.edu 37 15 51693895 51693895 + Missense_Mutation SNP A A G TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr15:51693895A>G ENST00000335449.6 + 9 1189 c.1133A>G c.(1132-1134)aAc>aGc p.N378S GLDN_ENST00000396399.2_Missense_Mutation_p.N254S NM_181789.2 NP_861454.2 Q6ZMI3 GLDN_HUMAN gliomedin 378 Olfactomedin-like. cell differentiation|nervous system development collagen|integral to membrane|plasma membrane central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 19 all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942) GTTGTTTACAACAACTCTCTC 0.493000 OREG0023125 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 51 0 0 0.184627 0 0 CACNA1C 775 broad.mit.edu 37 12 2721083 2721083 + Missense_Mutation SNP C C G TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr12:2721083C>G ENST00000399655.1 + 29 3997 c.3732C>G c.(3730-3732)agC>agG p.S1244R CACNA1C_ENST00000480911.1_Missense_Mutation_p.S1244R|CACNA1C_ENST00000399637.1_Missense_Mutation_p.S1244R|CACNA1C_ENST00000344100.3_Missense_Mutation_p.S1244R|CACNA1C_ENST00000399641.1_Missense_Mutation_p.S1244R|CACNA1C_ENST00000399629.1_Missense_Mutation_p.S1244R|CACNA1C_ENST00000406454.3_Missense_Mutation_p.S1244R|CACNA1C_ENST00000399595.1_Missense_Mutation_p.S1244R|CACNA1C_ENST00000399649.1_Missense_Mutation_p.S1244R|CACNA1C_ENST00000399603.1_Missense_Mutation_p.S1244R|CACNA1C_ENST00000335762.5_Missense_Mutation_p.S1269R|CACNA1C_ENST00000402845.3_Missense_Mutation_p.S1244R|CACNA1C_ENST00000399644.1_Missense_Mutation_p.S1244R|CACNA1C_ENST00000399617.1_Missense_Mutation_p.S1244R|CACNA1C_ENST00000327702.7_Missense_Mutation_p.S1244R|CACNA1C_ENST00000399634.1_Missense_Mutation_p.S1244R|CACNA1C_ENST00000399621.1_Missense_Mutation_p.S1244R|CACNA1C_ENST00000399601.1_Missense_Mutation_p.S1244R|CACNA1C_ENST00000399591.1_Missense_Mutation_p.S1244R|CACNA1C_ENST00000399597.1_Missense_Mutation_p.S1244R|CACNA1C_ENST00000399606.1_Missense_Mutation_p.S1264R|CACNA1C_ENST00000399638.1_Missense_Mutation_p.S1244R|CACNA1C_ENST00000347598.4_Missense_Mutation_p.S1264R NM_000719.6|NM_001129829.1|NM_001129834.1 NP_000710.5|NP_001123301.1|NP_001123306.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 1264 L -> P (in Ref. 16; AAA74590). axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) ACGGCCAGAGCTGCCTGTTCA 0.572000 4 146 0 0 0.150653 0 0 DRP2 1821 broad.mit.edu 37 X 100491011 100491011 + Splice_Site SNP C C A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chrX:100491011C>A ENST00000395209.3 + 4 807 c.281_splice c.e4+1 p.R94_splice DRP2_ENST00000402866.1_Splice_Site_p.R94_splice|DRP2_ENST00000541709.1_Splice_Site_p.R16_splice|DRP2_ENST00000538510.1_Splice_Site_p.R94_splice NM_001939.2 NP_001930.2 Q13474 DRP2_HUMAN dystrophin related protein 2 94 central nervous system development cytoplasm|cytoskeleton zinc ion binding p.?(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2) 31 TCACAACCTCCGGTAAGAAAC 0.512000 21 45 2.89027e-11 3.88497e-11 0.249174 1 0 PCDHB17P 54661 broad.mit.edu 37 5 140537246 140537246 + Missense_Mutation SNP C C A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr5:140537246C>A ENST00000539533.1 + 1 1670 c.1670C>A c.(1669-1671)aCg>aAg p.T557K TGGACGCCAACGACAACTCGC 0.706000 7 32 1.12685e-05 1.3329e-05 0.047766 1 0 AKNAD1 254268 broad.mit.edu 37 1 109385769 109385769 + Missense_Mutation SNP A A G TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr1:109385769A>G ENST00000370001.3 - 6 1634 c.1366T>C c.(1366-1368)Ttt>Ctt p.F456L AKNAD1_ENST00000369994.1_Missense_Mutation_p.F456L|AKNAD1_ENST00000369995.3_Missense_Mutation_p.F456L|AKNAD1_ENST00000357393.4_Missense_Mutation_p.F163L NM_152763.4 NP_689976.2 Q5T1N1 AKND1_HUMAN AKNA domain containing 1 456 breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2) 32 TCTGGATCAAAGTCACCAACG 0.483000 24 177 0 0 0.091800 0 0 OR12D2 26529 broad.mit.edu 37 6 29365302 29365302 + Missense_Mutation SNP A A C TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr6:29365302A>C ENST00000383555.2 + 1 887 c.826A>C c.(826-828)Atg>Ctg p.M276L OR5V1_ENST00000377154.1_Intron NM_013936.3 NP_039224.2 P58182 O12D2_HUMAN olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene) 276 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 31 TGTTGCCATCATGTACACTGT 0.453000 6 181 0 0 0.038147 0 0 C10orf2 56652 broad.mit.edu 37 10 102753132 102753132 + Missense_Mutation SNP G G C TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr10:102753132G>C ENST00000311916.2 + 5 2105 c.1920G>C c.(1918-1920)aaG>aaC p.K640N C10orf2_ENST00000370228.1_3'UTR|C10orf2_ENST00000473656.1_3'UTR NM_001163813.1|NM_021830.4 NP_001157285.1|NP_068602.2 Q96RR1 PEO1_HUMAN chromosome 10 open reading frame 2 640 cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter mitochondrial nucleoid 5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1) 24 Colorectal(252;0.122)|all_hematologic(284;0.152) Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224) GGCTCAAGAAGATCAAGGATG 0.527000 15 123 0 0 0.160694 0 0 GRM1 2911 broad.mit.edu 37 6 146720539 146720539 + Silent SNP G G A rs114187147 byFrequency TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr6:146720539G>A ENST00000392299.2 + 8 2834 c.2364G>A c.(2362-2364)gcG>gcA p.A788A GRM1_ENST00000507907.1_Silent_p.A788A|GRM1_ENST00000355289.4_Silent_p.A788A|GRM1_ENST00000282753.1_Silent_p.A788A|GRM1_ENST00000361719.2_Silent_p.A788A|GRM1_ENST00000492807.2_Silent_p.A788A Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 788 synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) AATATATCGCGTTCACCATGT 0.488000 10 110 0 0 0.093190 0 0 BCAN 63827 broad.mit.edu 37 1 156622659 156622659 + Silent SNP T T C TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr1:156622659T>C ENST00000329117.4 + 8 2253 c.1917T>C c.(1915-1917)ggT>ggC p.G639G BCAN_ENST00000361588.5_Silent_p.G639G|RP11-284F21.7_ENST00000448869.1_RNA NM_021948.4 NP_068767.3 Q96GW7 PGCB_HUMAN brevican 639 cell adhesion anchored to membrane|proteinaceous extracellular matrix hyaluronic acid binding|sugar binding cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 55 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CCAGCCGAGGTGGAGTGGCCG 0.612000 11 79 0 0 0.119110 0 0 CEP70 80321 broad.mit.edu 37 3 138219396 138219396 + Missense_Mutation SNP G G A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr3:138219396G>A ENST00000264982.3 - 15 1648 c.1382C>T c.(1381-1383)cCa>cTa p.P461L CEP70_ENST00000542237.1_Missense_Mutation_p.P441L|CEP70_ENST00000489254.1_Missense_Mutation_p.P309L|CEP70_ENST00000481834.1_Missense_Mutation_p.P461L|CEP70_ENST00000484888.1_Missense_Mutation_p.P461L NM_024491.2 NP_077817.2 Q8NHQ1 CEP70_HUMAN centrosomal protein 70kDa 461 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 TTGAAAGTGTGGCATATTGCT 0.313000 31 184 0 0 0.163468 0 0 BPIFB3 359710 broad.mit.edu 37 20 31656612 31656612 + Missense_Mutation SNP C C G rs113939875 TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr20:31656612C>G ENST00000375494.3 + 10 982 c.982C>G c.(982-984)Ctg>Gtg p.L328V NM_182658.1 NP_872599.1 P59826 LPLC3_HUMAN BPI fold containing family B, member 3 328 innate immune response cytoplasm|extracellular region lipid binding|protein binding TCTCCAGGCCCTGGGGAAGCT 0.577000 8 90 0 0 0.047766 0 0 SCN7A 6332 broad.mit.edu 37 2 167262949 167262949 + Missense_Mutation SNP A A T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr2:167262949A>T ENST00000409855.1 - 25 4316 c.4190T>A c.(4189-4191)tTt>tAt p.F1397Y NM_002976.3 NP_002967.2 Q01118 SCN7A_HUMAN sodium channel, voltage-gated, type VII, alpha subunit 1397 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1) 44 ATACATTCCAAATACGGCATA 0.358000 12 125 0 0 0.093190 0 0 FAM198B 51313 broad.mit.edu 37 4 159052016 159052016 + Nonsense_Mutation SNP A A T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr4:159052016A>T ENST00000296530.8 - 4 1895 c.1274T>A c.(1273-1275)tTg>tAg p.L425* FAM198B_ENST00000585682.1_Nonsense_Mutation_p.L425*|FAM198B_ENST00000393807.5_Nonsense_Mutation_p.L433*|FAM198B_ENST00000589306.1_5'UTR NM_016613.6 NP_057697.2 Q6UWH4 F198B_HUMAN family with sequence similarity 198, member B 425 Golgi membrane|integral to membrane haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1) 26 TATAAAAACCAAATGCCTTGG 0.398000 11 39 0 0 0.093190 0 0 CLINT1 9685 broad.mit.edu 37 5 157232889 157232889 + Silent SNP A A T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr5:157232889A>T ENST00000523094.1 - 7 1078 c.873T>A c.(871-873)ccT>ccA p.P291P CLINT1_ENST00000523908.1_Silent_p.P309P|CLINT1_ENST00000530742.1_Silent_p.P291P|CLINT1_ENST00000411809.2_Silent_p.P309P|CLINT1_ENST00000296951.5_Silent_p.P291P NM_001195555.1|NM_001195556.1 NP_001182484.1|NP_001182485.1 Q14677 EPN4_HUMAN clathrin interactor 1 309 endocytosis|post-Golgi vesicle-mediated transport clathrin-coated vesicle|cytosol|Golgi apparatus|membrane|perinuclear region of cytoplasm clathrin binding|lipid binding breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|urinary_tract(1) 21 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CTGAAGACTGAGGTGTGTGGG 0.438000 13 30 0 0 0.146539 0 0 CNKSR1 10256 broad.mit.edu 37 1 26507069 26507069 + Missense_Mutation SNP A A T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr1:26507069A>T ENST00000361530.6 + 2 323 c.178A>T c.(178-180)Atc>Ttc p.I60F CNKSR1_ENST00000374253.5_Missense_Mutation_p.I60F|CNKSR1_ENST00000480348.2_3'UTR|CNKSR1_ENST00000531191.1_5'UTR Q969H4 CNKR1_HUMAN connector enhancer of kinase suppressor of Ras 1 60 SAM. Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway cell cortex|cell-cell junction protein binding, bridging breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 28 Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649) CCAGGAGCTCATCCTGGGCGG 0.647000 5 49 0 0 0.217242 0 0 TLK1 9874 broad.mit.edu 37 2 171906414 171906414 + Missense_Mutation SNP C C A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr2:171906414C>A ENST00000442919.2 - 10 1361 c.746G>T c.(745-747)cGa>cTa p.R249L TLK1_ENST00000434911.2_Missense_Mutation_p.R201L|TLK1_ENST00000431350.2_Missense_Mutation_p.R297L|TLK1_ENST00000521943.1_Missense_Mutation_p.R249L|TLK1_ENST00000360843.3_Missense_Mutation_p.R318L NM_012290.4 NP_036422.3 Q9UKI8 TLK1_HUMAN tousled-like kinase 1 297 cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 33 GAGGCGTAATCGATCTTGCAT 0.363000 11 60 6.40141e-05 7.36162e-05 0.080935 1 0 HSP90AB2P 391634 broad.mit.edu 37 4 13338163 13338163 + RNA SNP G G T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr4:13338163G>T ENST00000602906.1 + 0 181 kidney(3)|lung(1) 4 CTTTCAGGCAGAAATTGCCCA 0.433000 8 55 2.17888e-05 2.5554e-05 0.058154 1 0 EXOC5 10640 broad.mit.edu 37 14 57689125 57689125 + Missense_Mutation SNP G G C TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr14:57689125G>C ENST00000413566.2 - 13 1665 c.1306C>G c.(1306-1308)Cct>Gct p.P436A EXOC5_ENST00000340918.7_Missense_Mutation_p.P371A NM_006544.3 NP_006535.1 O00471 EXOC5_HUMAN exocyst complex component 5 436 exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking cytoplasm breast(3)|endometrium(1)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 22 AAGTCAGAAGGATCAGAGAGC 0.318000 4 131 0 0 0.184627 0 0 ARHGAP32 9743 broad.mit.edu 37 11 128848784 128848784 + Missense_Mutation SNP T T A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr11:128848784T>A ENST00000310343.9 - 18 1960 c.1961A>T c.(1960-1962)aAg>aTg p.K654M ARHGAP32_ENST00000524655.1_Missense_Mutation_p.K580M|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.K305M|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.K305M NM_001142685.1 NP_001136157.1 A7KAX9 RHG32_HUMAN Rho GTPase activating protein 32 654 cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane GTPase activator activity|phosphatidylinositol binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3) 60 CACAGGAGACTTTTTCATCTT 0.393000 6 48 0 0 0.217242 0 0 SHROOM4 57477 broad.mit.edu 37 X 50378521 50378521 + Missense_Mutation SNP G G T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chrX:50378521G>T ENST00000376020.2 - 4 577 c.552C>A c.(550-552)aaC>aaA p.N184K SHROOM4_ENST00000289292.7_Missense_Mutation_p.N184K|SHROOM4_ENST00000460112.3_Missense_Mutation_p.N68K NM_020717.3 NP_065768.2 Q9ULL8 SHRM4_HUMAN shroom family member 4 184 actin filament organization|brain development|cell morphogenesis|cognition apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus actin filament binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 52 Ovarian(276;0.236) AGTCACGCTGGTTAGGGTACA 0.552000 3 8 2.56e-06 3.10804e-06 0.150653 1 0 SOBP 55084 broad.mit.edu 37 6 107954957 107954957 + Silent SNP G G A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr6:107954957G>A ENST00000317357.5 + 6 1568 c.909G>A c.(907-909)ccG>ccA p.P303P NM_018013.3 NP_060483.3 A7XYQ1 SOBP_HUMAN sine oculis binding protein homolog (Drosophila) 303 metal ion binding endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 26 all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156) BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154) GGAATATCCCGCTAACAGATG 0.607000 5 56 0 0 0.184627 0 0 RELN 5649 broad.mit.edu 37 7 103180650 103180650 + Silent SNP G G T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr7:103180650G>T ENST00000424685.2 - 44 7083 c.6924C>A c.(6922-6924)atC>atA p.I2308I RELN_ENST00000428762.1_Silent_p.I2308I|RELN_ENST00000343529.5_Silent_p.I2308I P78509 RELN_HUMAN reelin 2308 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) TGACCTGATCGATAACCCAGG 0.488000 4 44 1.23904e-05 1.45728e-05 0.184627 1 0 PGBD2 267002 broad.mit.edu 37 1 249211295 249211295 + Missense_Mutation SNP A A G TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr1:249211295A>G ENST00000539153.1 + 4 758 c.503A>G c.(502-504)aAt>aGt p.N168S PGBD2_ENST00000329291.5_Missense_Mutation_p.N171S|PGBD2_ENST00000355360.4_Intron|PGBD2_ENST00000462488.1_Intron Q6P3X8 PGBD2_HUMAN piggyBac transposable element derived 2 171 NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3) 14 all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199) all_cancers(173;0.012) OV - Ovarian serous cystadenocarcinoma(106;0.00989) AAAAATGTCAATTTGAGTCTT 0.388000 65 119 0 0 0.139131 0 0 RIMS2 9699 broad.mit.edu 37 8 105105708 105105708 + Missense_Mutation SNP G G C TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr8:105105708G>C ENST00000436393.2 + 21 2972 c.2731G>C c.(2731-2733)Gga>Cga p.G911R RIMS2_ENST00000262231.10_Intron|RIMS2_ENST00000507740.1_Intron|RIMS2_ENST00000406091.3_Intron Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 366 C2 1. intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1) 144 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) GTATCGATCAGGATGGGATCC 0.383000 HNSCC(12;0.0054) 35 102 0 0 0.214465 0 0 BAAT 570 broad.mit.edu 37 9 104133326 104133326 + Missense_Mutation SNP C C T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr9:104133326C>T ENST00000259407.2 - 2 469 c.361G>A c.(361-363)Gct>Act p.A121T BAAT_ENST00000395051.3_Missense_Mutation_p.A121T NM_001127610.1|NM_001701.3 NP_001121082.1|NP_001692.1 Q14032 BAAT_HUMAN bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase) 121 acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process cytosol|peroxisomal matrix carboxylesterase activity|glycine N-choloyltransferase activity|N-acyltransferase activity|palmitoyl-CoA hydrolase activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1) 23 Acute lymphoblastic leukemia(62;0.0559) Glycine(DB00145) GCCTTTGGAGCACTGGCAACT 0.453000 14 89 0 0 0.105934 0 0 VPS18 57617 broad.mit.edu 37 15 41188205 41188205 + Missense_Mutation SNP C C T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr15:41188205C>T ENST00000220509.5 + 2 500 c.161C>T c.(160-162)tCc>tTc p.S54F VPS18_ENST00000558474.1_Missense_Mutation_p.S54F NM_020857.2 NP_065908.1 Q9P253 VPS18_HUMAN vacuolar protein sorting 18 homolog (S. cerevisiae) 54 endosome organization|lysosome organization|protein transport HOPS complex|late endosome membrane|lysosomal membrane metal ion binding|protein binding autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 28 all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164) TTCACCCCTTCCGAGCGCATT 0.512000 4 114 0 0 0.184627 0 0 PARG 8505 broad.mit.edu 37 10 51093329 51093329 + Missense_Mutation SNP C C T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr10:51093329C>T ENST00000402038.3 - 4 294 c.295G>A c.(295-297)Gca>Aca p.A99T NM_003631.2 NP_003622.2 Q86W56 PARG_HUMAN poly (ADP-ribose) glycohydrolase 584 carbohydrate metabolic process nucleus poly(ADP-ribose) glycohydrolase activity p.A584T(1) endometrium(5)|kidney(2)|lung(1)|ovary(2) 10 Epithelial(53;0.213) TGAGCTTCTGCTTCTTCAAGT 0.318000 4 104 0 0 0.150653 0 0 KRT28 162605 broad.mit.edu 37 17 38956072 38956072 + Missense_Mutation SNP T T C TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr17:38956072T>C ENST00000306658.7 - 1 139 c.74A>G c.(73-75)aAt>aGt p.N25S NM_181535.3 NP_853513.2 Q7Z3Y7 K1C28_HUMAN keratin 28 25 Gly-rich.|Head. cytoplasm|intermediate filament structural molecule activity NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 30 Breast(137;0.000301) TGCACCTCCATTGAGGGGTCT 0.512000 5 70 0 0 0.047766 0 0 ATP9A 10079 broad.mit.edu 37 20 50230268 50230268 + Missense_Mutation SNP G G A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr20:50230268G>A ENST00000338821.5 - 23 2783 c.2519C>T c.(2518-2520)gCc>gTc p.A840V ATP9A_ENST00000402822.1_Missense_Mutation_p.A719V|ATP9A_ENST00000311637.5_Missense_Mutation_p.A704V NM_006045.1 NP_006036.1 O75110 ATP9A_HUMAN ATPase, class II, type 9A 840 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 GCTGAGGGCGGCTGACCGCTT 0.552000 8 72 0 0 0.047766 0 0 LINC01410 103352539 broad.mit.edu 37 9 66457322 66457322 + RNA SNP G G C rs11262292 TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr9:66457322G>C ENST00000424345.1 + 0 34 tggagcgacagcgacagagcc 0.632000 3 16 0 0 0.150653 0 0 SEMG2 6407 broad.mit.edu 37 20 43851066 43851066 + Missense_Mutation SNP A A G TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr20:43851066A>G ENST00000372769.3 + 2 883 c.793A>G c.(793-795)Aag>Gag p.K265E NM_003008.2 NP_002999.1 Q02383 SEMG2_HUMAN semenogelin II 265 4 X 60 AA tandem repeats, type I.|Repeat-rich region. sexual reproduction extracellular space|stored secretory granule structural molecule activity autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 Myeloproliferative disorder(115;0.0122) AGTATATAACAAGAATCAACA 0.403000 25 102 0 0 0.108266 0 0 NRIP1 8204 broad.mit.edu 37 21 16340473 16340473 + Missense_Mutation SNP T T A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr21:16340473T>A ENST00000400202.1 - 3 753 c.41A>T c.(40-42)gAt>gTt p.D14V NRIP1_ENST00000400199.1_Missense_Mutation_p.D14V|NRIP1_ENST00000318948.4_Missense_Mutation_p.D14V P48552 NRIP1_HUMAN nuclear receptor interacting protein 1 14 androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity p.D14A(1) cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 39 Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24) AACAATAGAATCCTGGTGCAC 0.423000 6 32 0 0 0.047766 0 0 PSG9 5678 broad.mit.edu 37 19 43762248 43762248 + Missense_Mutation SNP C C T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr19:43762248C>T ENST00000244293.7 - 4 1136 c.1070G>A c.(1069-1071)gGc>gAc p.G357D PSG9_ENST00000291752.5_Intron|PSG9_ENST00000418820.2_Intron|PSG9_ENST00000443718.3_Intron|PSG9_ENST00000593948.1_Intron|PSG9_ENST00000270077.3_Intron|PSG9_ENST00000596730.1_Missense_Mutation_p.G264D Q00887 PSG9_HUMAN pregnancy specific beta-1-glycoprotein 9 0 Ig-like C2-type 3. female pregnancy extracellular region central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Prostate(69;0.00682) TTTGCTTGTGCCCATGGGACA 0.453000 5 55 0 0 0.184627 0 0 PCIF1 63935 broad.mit.edu 37 20 44567887 44567887 + Missense_Mutation SNP G G T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr20:44567887G>T ENST00000372409.3 + 4 522 c.158G>T c.(157-159)tGg>tTg p.W53L NM_022104.3 NP_071387.1 Q9H4Z3 PCIF1_HUMAN PDX1 C-terminal inhibiting factor 1 53 WW. nucleus central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 20 GAGAAGTGCTGGAGCCGGAGG 0.622000 3 11 0.00909568 0.00963072 0.150653 1 0 ANKRD12 23253 broad.mit.edu 37 18 9256880 9256880 + Silent SNP C C T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr18:9256880C>T ENST00000383440.2 + 8 3803 c.3546C>T c.(3544-3546)tcC>tcT p.S1182S ANKRD12_ENST00000400020.3_Silent_p.S1182S|ANKRD12_ENST00000262126.3_Silent_p.S1205S NM_001083625.2 NP_001077094.1 Q6UB98 ANR12_HUMAN ankyrin repeat domain 12 1205 nucleus NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2) 65 GATCTGTATCCATGATTTCTG 0.413000 28 101 0 0 0.108266 0 0 TOX2 84969 broad.mit.edu 37 20 42694514 42694514 + Missense_Mutation SNP C C G TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr20:42694514C>G ENST00000358131.5 + 6 1277 c.1069C>G c.(1069-1071)Cgg>Ggg p.R357G TOX2_ENST00000341197.3_Missense_Mutation_p.R375G|TOX2_ENST00000435864.2_Missense_Mutation_p.R253G|TOX2_ENST00000423191.1_Missense_Mutation_p.R333G|TOX2_ENST00000372999.1_Missense_Mutation_p.R333G NM_001098798.1 NP_001092268.1 Q96NM4 TOX2_HUMAN TOX high mobility group box family member 2 357 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) CAGCCTCGCCCGGACGCTGGG 0.701000 12 19 0 0 0.160694 0 0 CDH13 1012 broad.mit.edu 37 16 83378607 83378607 + Silent SNP C C A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr16:83378607C>A ENST00000566620.1 + 6 1067 c.777C>A c.(775-777)ccC>ccA p.P259P CDH13_ENST00000569454.1_3'UTR|CDH13_ENST00000268613.10_Silent_p.P306P|CDH13_ENST00000428848.3_Silent_p.P220P NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4 NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1 P55290 CAD13_HUMAN cadherin 13 259 Cadherin 2. 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|Rac protein signal transduction|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|Rho protein signal transduction|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) AAGGGTCACCCACAGGTATGT 0.507000 8 73 0.00448238 0.00488344 0.047766 1 0 C1orf173 127254 broad.mit.edu 37 1 75038451 75038451 + Silent SNP G G T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr1:75038451G>T ENST00000326665.5 - 14 3161 c.2943C>A c.(2941-2943)gcC>gcA p.A981A C1orf173_ENST00000433746.2_5'UTR NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 981 Glu-rich. NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5) 184 TTCTCTCTTTGGCTGGTTCCT 0.542000 9 117 0.000274275 0.000307723 0.047766 1 0 NNT 23530 broad.mit.edu 37 5 43613236 43613236 + Silent SNP C C G TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr5:43613236C>G ENST00000264663.5 + 3 599 c.378C>G c.(376-378)gtC>gtG p.V126V NNT_ENST00000344920.4_Silent_p.V126V|NNT_ENST00000512996.2_5'UTR NM_012343.3 NP_036475.3 Q13423 NNTM_HUMAN nicotinamide nucleotide transhydrogenase 126 tricarboxylic acid cycle integral to membrane|mitochondrial respiratory chain NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(6;2.58e-06) NADH(DB00157) ATTTGGTGGTCAAAGTAATTA 0.413000 13 55 0 0 0.093190 0 0 PIGO 84720 broad.mit.edu 37 9 35090143 35090143 + Missense_Mutation SNP G G A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr9:35090143G>A ENST00000378617.3 - 9 3383 c.2989C>T c.(2989-2991)Cgg>Tgg p.R997W PIGO_ENST00000361778.2_Missense_Mutation_p.R580W|PIGO_ENST00000341666.3_Missense_Mutation_p.R997W|PIGO_ENST00000298004.5_Missense_Mutation_p.R580W NM_032634.3 NP_116023.2 Q8TEQ8 PIGO_HUMAN phosphatidylinositol glycan anchor biosynthesis, class O 997 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane transferase activity endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3) 38 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) TCCCGGAGCCGCATCTCCATC 0.577000 3 54 0 0 0.150653 0 0 TRPV2 51393 broad.mit.edu 37 17 16335351 16335351 + Nonsense_Mutation SNP C C T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr17:16335351C>T ENST00000338560.7 + 12 2125 c.1726C>T c.(1726-1728)Cag>Tag p.Q576* TRPV2_ENST00000583241.1_3'UTR|TRPV2_ENST00000577397.1_Nonsense_Mutation_p.Q146* NM_016113.4 NP_057197.2 Q9Y5S1 TRPV2_HUMAN transient receptor potential cation channel, subfamily V, member 2 576 sensory perception integral to plasma membrane|melanosome calcium channel activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3) 28 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) AGAGTCAGTGCAGCCCATGGA 0.622000 7 37 0 0 0.047766 0 0 FAM45B 55855 broad.mit.edu 37 X 129629298 129629298 + RNA SNP C C A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chrX:129629298C>A ENST00000458525.1 - 0 1015 FAM45B_ENST00000592932.1_RNA AAACAAACTTCTCCATCCCTT 0.393000 28 56 1.45844e-13 1.99271e-13 0.173368 1 0 RLF 6018 broad.mit.edu 37 1 40703619 40703619 + Missense_Mutation SNP C C T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr1:40703619C>T ENST00000372771.4 + 8 3272 c.3245C>T c.(3244-3246)tCa>tTa p.S1082L NM_012421.3 NP_036553.2 Q13129 RLF_HUMAN rearranged L-myc fusion 1082 chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2) 68 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461) GGATCTTTCTCAGGGTCATTG 0.408000 9 43 0 0 0.058154 0 0 COL11A1 1301 broad.mit.edu 37 1 103487271 103487271 + Missense_Mutation SNP C C A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr1:103487271C>A ENST00000358392.2 - 9 1653 c.1336G>T c.(1336-1338)Gtt>Ttt p.V446F COL11A1_ENST00000512756.1_Missense_Mutation_p.V318F|COL11A1_ENST00000370096.3_Missense_Mutation_p.V434F|COL11A1_ENST00000353414.4_Missense_Mutation_p.V395F NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 434 Triple-helical region (interrupted). collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) ACAGGCTCAACCACTGCTGGT 0.363000 7 23 0.000157383 0.000178511 0.038147 1 0 SCN1A 6323 broad.mit.edu 37 2 166897784 166897784 + Missense_Mutation SNP G G T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr2:166897784G>T ENST00000423058.2 - 13 2389 c.2372C>A c.(2371-2373)cCa>cAa p.P791Q AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.P763Q|SCN1A_ENST00000375405.3_Missense_Mutation_p.P780Q|SCN1A_ENST00000303395.4_Missense_Mutation_p.P791Q|AC010127.3_ENST00000595268.1_RNA NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 791 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1) 200 Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909) GTCCGTCATTGGATAGTGCTC 0.388000 4 35 0.000602214 0.000670206 0.184627 1 0 FREM1 158326 broad.mit.edu 37 9 14737453 14737453 + Missense_Mutation SNP G G T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr9:14737453G>T ENST00000380881.4 - 38 7299 c.6484C>A c.(6484-6486)Caa>Aaa p.Q2162K FREM1_ENST00000422223.2_Missense_Mutation_p.Q2161K|FREM1_ENST00000380880.3_Missense_Mutation_p.Q2161K|FREM1_ENST00000380894.1_Missense_Mutation_p.Q697K Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 2161 C-type lectin. 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) TCTTTTGTTTGCCATTTCCCT 0.478000 5 29 0.000602214 0.000670206 0.184627 1 0 PHF20 51230 broad.mit.edu 37 20 34459638 34459638 + Missense_Mutation SNP A A T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr20:34459638A>T ENST00000374012.3 + 9 1298 c.1169A>T c.(1168-1170)gAt>gTt p.D390V PHF20_ENST00000439301.1_3'UTR|PHF20_ENST00000481202.1_3'UTR Q9BVI0 PHF20_HUMAN PHD finger protein 20 390 regulation of transcription, DNA-dependent|transcription, DNA-dependent MLL1 complex DNA binding|zinc ion binding breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 Breast(12;0.00631)|all_lung(11;0.0145) TCCTTTGGGGATGGATCCGGG 0.473000 31 121 0 0 0.246493 0 0 MSH6 2956 broad.mit.edu 37 2 48030811 48030811 + Missense_Mutation SNP C C T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr2:48030811C>T ENST00000234420.4 + 5 3577 c.3425C>T c.(3424-3426)aCg>aTg p.T1142M FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000540021.1_Missense_Mutation_p.T1012M|MSH6_ENST00000538136.1_Missense_Mutation_p.T840M NM_000179.2 NP_000170.1 P52701 MSH6_HUMAN mutS homolog 6 1142 determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes MutSalpha complex ATP binding|DNA-dependent ATPase activity|protein binding p.0?(2) breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 229 Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) GGCAAGTCTACGCTTATGAGA 0.383000 """Mis, N, F, S""" colorectal """colorectal, endometrial, ovarian""" Mismatch excision repair (MMR) Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome 27 164 0 0 0.134883 0 0 TNFRSF11A 8792 broad.mit.edu 37 18 60036549 60036549 + Nonsense_Mutation SNP G G T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr18:60036549G>T ENST00000586569.1 + 9 1437 c.1399G>T c.(1399-1401)Gga>Tga p.G467* TNFRSF11A_ENST00000269485.7_Intron NM_003839.2 NP_003830.1 Q9Y6Q6 TNR11_HUMAN tumor necrosis factor receptor superfamily, member 11a, NFKB activator 467 adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide external side of plasma membrane|integral to membrane metal ion binding|tumor necrosis factor receptor activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1) 29 Colorectal(73;0.188) CCCAAAACGTGGACCCTTGCC 0.662000 5 60 3.59834e-05 4.18458e-05 0.217242 1 0 NLRX1 79671 broad.mit.edu 37 11 119054062 119054062 + Missense_Mutation SNP C C A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr11:119054062C>A ENST00000409109.1 + 10 3429 c.2842C>A c.(2842-2844)Ctt>Att p.L948I NLRX1_ENST00000409265.4_Intron|NLRX1_ENST00000409991.1_Missense_Mutation_p.L948I|NLRX1_ENST00000292199.2_Missense_Mutation_p.L948I|NLRX1_ENST00000525863.1_Intron|NLRX1_ENST00000469103.2_3'UTR Q86UT6 NLRX1_HUMAN NLR family member X1 948 Required for the repression of MAVS- induced interferon signaling. innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production mitochondrial outer membrane ATP binding cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 22 all_hematologic(175;0.0977) Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.7e-05) GGGTGCCACCCTTAATCCTTG 0.637000 3 39 0.150653 0.154001 0.150653 1 0 ANKEF1 63926 broad.mit.edu 37 20 10019172 10019172 + Missense_Mutation SNP G G A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr20:10019172G>A ENST00000378380.3 + 2 552 c.223G>A c.(223-225)Gat>Aat p.D75N ANKEF1_ENST00000378392.1_Missense_Mutation_p.D75N|SNAP25-AS1_ENST00000421143.2_RNA|ANKEF1_ENST00000488991.1_3'UTR|SNAP25-AS1_ENST00000603542.1_RNA NM_198798.1 NP_942093.1 ankyrin repeat and EF-hand domain containing 1 TGCTCACCCTGATGTGCAAGA 0.448000 11 91 0 0 0.080935 0 0 COL12A1 1303 broad.mit.edu 37 6 75829168 75829168 + Missense_Mutation SNP C C G TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr6:75829168C>G ENST00000322507.8 - 45 7417 c.7108G>C c.(7108-7110)Gat>Cat p.D2370H COL12A1_ENST00000483888.2_Missense_Mutation_p.D2370H|COL12A1_ENST00000416123.2_Missense_Mutation_p.D2370H|COL12A1_ENST00000345356.6_Missense_Mutation_p.D1206H NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 2370 VWFA 4. 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 TTGACCTCATCGCTGTATTGC 0.433000 9 59 0 0 0.080935 0 0 FAM98A 25940 broad.mit.edu 37 2 33817277 33817277 + Silent SNP C C T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr2:33817277C>T ENST00000403368.1 - 3 276 c.207G>A c.(205-207)ccG>ccA p.P69P FAM98A_ENST00000441530.2_5'UTR|FAM98A_ENST00000238823.8_Silent_p.P69P|FAM98A_ENST00000498340.1_5'UTR NM_015475.3 NP_056290.3 Q8NCA5 FA98A_HUMAN family with sequence similarity 98, member A 69 NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1) 24 all_hematologic(175;0.115) CAGCTTCACTCGGACCTTTTA 0.353000 4 218 0 0 0.150653 0 0 OR5AP2 338675 broad.mit.edu 37 11 56409469 56409469 + Missense_Mutation SNP C C G TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr11:56409469C>G ENST00000544374.1 - 1 478 c.450G>C c.(448-450)ttG>ttC p.L150F OR5AP2_ENST00000302981.1_Missense_Mutation_p.L149F Q8NGF4 O5AP2_HUMAN olfactory receptor, family 5, subfamily AP, member 2 149 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 29 TAGCTATTAGCAAAAAGCAAA 0.463000 10 98 0 0 0.080935 0 0 FSHR 2492 broad.mit.edu 37 2 49190205 49190205 + Missense_Mutation SNP C C A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr2:49190205C>A ENST00000406846.2 - 10 1874 c.1755G>T c.(1753-1755)atG>atT p.M585I FSHR_ENST00000304421.4_Missense_Mutation_p.M559I|FSHR_ENST00000541117.1_Missense_Mutation_p.M321I|FSHR_ENST00000346173.3_Missense_Mutation_p.M523I NM_000145.3 NP_000136.2 P23945 FSHR_HUMAN follicle stimulating hormone receptor 585 female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 73 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) AAATGGGTGCCATGCAGAGGA 0.522000 Gonadal Dysgenesis, 46 XX 20 69 3.99206e-14 5.49074e-14 0.189662 1 0 KRT26 353288 broad.mit.edu 37 17 38926577 38926577 + Nonsense_Mutation SNP A A T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr17:38926577A>T ENST00000335552.4 - 3 657 c.609T>A c.(607-609)tgT>tgA p.C203* NM_181539.4 NP_853517.2 Q7Z3Y9 K1C26_HUMAN keratin 26 203 Coil 1B.|Rod. intermediate filament structural molecule activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5) 16 Breast(137;0.00526) GGTCGGTTGTACAAAGGGTCA 0.483000 21 101 0 0 0.234183 0 0 ABCC1 4363 broad.mit.edu 37 16 16110392 16110392 + Missense_Mutation SNP G G A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr16:16110392G>A ENST00000399408.2 + 5 704 c.529G>A c.(529-531)Gtc>Atc p.V177I ABCC1_ENST00000399410.3_Missense_Mutation_p.V177I|ABCC1_ENST00000349029.5_Missense_Mutation_p.V177I|ABCC1_ENST00000346370.5_Missense_Mutation_p.V177I|ABCC1_ENST00000351154.5_Missense_Mutation_p.V177I|ABCC1_ENST00000345148.5_Missense_Mutation_p.V177I P33527 MRP1_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 1 177 hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3) 56 Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) CACTTTCTACGTCTACTTTTC 0.512000 16 246 0 0 0.160694 0 0 EDARADD 128178 broad.mit.edu 37 1 236645924 236645924 + Missense_Mutation SNP G G C TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr1:236645924G>C ENST00000359362.5 + 6 807 c.593G>C c.(592-594)cGt>cCt p.R198P EDARADD_ENST00000334232.4_Missense_Mutation_p.R208P NM_080738.3 NP_542776.1 Q8WWZ3 EDAD_HUMAN EDAR-associated death domain 208 Death. cell differentiation|signal transduction cytoplasm p.R208L(1) endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|stomach(1) 12 Ovarian(103;0.0634)|Breast(184;0.247) all_cancers(173;0.0232)|Prostate(94;0.174) OV - Ovarian serous cystadenocarcinoma(106;0.00117) AAGCGGGAGCGTGGAGACCCC 0.582000 11 57 0 0 0.132662 0 0 CYP2B6 1555 broad.mit.edu 37 19 41509908 41509908 + Missense_Mutation SNP C C A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr19:41509908C>A ENST00000324071.4 + 2 181 c.174C>A c.(172-174)ttC>ttA p.F58L CYP2B6_ENST00000593831.1_5'UTR|CYP2B6_ENST00000330446.5_Missense_Mutation_p.F18L|CYP2B6_ENST00000598834.1_3'UTR NM_000767.4 NP_000758.1 P20813 CP2B6_HUMAN cytochrome P450, family 2, subfamily B, polypeptide 6 58 cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 28 LUSC - Lung squamous cell carcinoma(20;0.00322) Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361) ATTGGCAGTTCCGAGAGAAAT 0.512000 6 45 8.12818e-05 9.27016e-05 0.248553 1 0 EYS 346007 broad.mit.edu 37 6 66005981 66005981 + Silent SNP A A G TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr6:66005981A>G ENST00000503581.1 - 12 2335 c.1798T>C c.(1798-1800)Ttg>Ctg p.L600L EYS_ENST00000370621.3_Silent_p.L600L|EYS_ENST00000370616.2_Silent_p.L600L NM_001142800.1 NP_001136272.1 Q5T1H1 EYS_HUMAN eyes shut homolog (Drosophila) 600 EGF-like 6. response to stimulus|visual perception extracellular region calcium ion binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 69 ACAACACACAATCTGCCAATG 0.378000 2 2 0 0 0.115264 0 0 NUP107 57122 broad.mit.edu 37 12 69096537 69096537 + Missense_Mutation SNP A A T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr12:69096537A>T ENST00000229179.4 + 8 1034 c.702A>T c.(700-702)ttA>ttT p.L234F NUP107_ENST00000539906.1_Missense_Mutation_p.L205F|NUP107_ENST00000378905.2_Missense_Mutation_p.L83F NM_020401.2 NP_065134.1 P57740 NU107_HUMAN nucleoporin 107kDa 234 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding NUP107/LGR5(2) breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2) 39 Breast(13;6.25e-06) Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694) AGTCTGCATTAGAAGAGGAAA 0.279000 8 24 0 0 0.047766 0 0 RBL1 5933 broad.mit.edu 37 20 35693826 35693826 + Splice_Site SNP C C G TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr20:35693826C>G ENST00000373664.3 - 7 963 c.e7+1 RBL1_ENST00000344359.3_Splice_Site NM_002895.2 NP_002886.2 P28749 RBL1_HUMAN retinoblastoma-like 1 (p107) cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent transcription factor binding NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 42 Myeloproliferative disorder(115;0.00878) TAGATATTTACCTATTATCAG 0.308000 9 51 0 0 0.047766 0 0 TOX2 84969 broad.mit.edu 37 20 42694513 42694513 + Silent SNP C C G TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr20:42694513C>G ENST00000358131.5 + 6 1276 c.1068C>G c.(1066-1068)gcC>gcG p.A356A TOX2_ENST00000341197.3_Silent_p.A374A|TOX2_ENST00000435864.2_Silent_p.A252A|TOX2_ENST00000423191.1_Silent_p.A332A|TOX2_ENST00000372999.1_Silent_p.A332A NM_001098798.1 NP_001092268.1 Q96NM4 TOX2_HUMAN TOX high mobility group box family member 2 356 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) CCAGCCTCGCCCGGACGCTGG 0.706000 11 19 0 0 0.160694 0 0 OR6C4 341418 broad.mit.edu 37 12 55945351 55945351 + Missense_Mutation SNP C C G TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr12:55945351C>G ENST00000394256.2 + 1 369 c.341C>G c.(340-342)gCc>gGc p.A114G RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA NM_001005494.1 NP_001005494.1 Q8NGE1 OR6C4_HUMAN olfactory receptor, family 6, subfamily C, member 4 114 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1) 11 TACCTCCTGGCCTCCATGTCT 0.438000 54 97 0 0 0.139131 0 0 TP53 7157 broad.mit.edu 37 17 7578413 7578413 + Missense_Mutation SNP C C T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr17:7578413C>T ENST00000420246.2 - 5 649 c.517G>A c.(517-519)Gtg>Atg p.V173M TP53_ENST00000413465.2_Missense_Mutation_p.V173M|TP53_ENST00000269305.4_Missense_Mutation_p.V173M|TP53_ENST00000445888.2_Missense_Mutation_p.V173M|TP53_ENST00000455263.2_Missense_Mutation_p.V173M|TP53_ENST00000359597.4_Missense_Mutation_p.V173M|TP53_ENST00000574684.1_5'UTR NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 173 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|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|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.V173L(68)|p.V173M(46)|p.0?(8)|p.V80L(6)|p.V41L(6)|p.V173fs*1(4)|p.V80M(3)|p.V41M(3)|p.V173fs*59(2)|p.V157_C176del20(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.E171fs*1(1)|p.V173W(1)|p.V173fs*8(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CAGCGCCTCACAACCTCCGTC 0.662000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 14 38 0 0 0.132662 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76572213 76572213 + Missense_Mutation SNP C C G TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr16:76572213C>G ENST00000307431.8 + 20 3578 c.3193C>G c.(3193-3195)Ctt>Gtt p.L1065V CNTNAP4_ENST00000478060.1_Missense_Mutation_p.L993V|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.L1017V|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.L1069V|CNTNAP4_ENST00000469589.1_3'UTR NM_033401.3 NP_207837.2 Q9C0A0 CNTP4_HUMAN contactin associated protein-like 4 1066 Laminin G-like 4. cell adhesion|signal transduction integral to membrane receptor binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 CAAAGAATACCTTTCTGTGAT 0.358000 4 43 0 0 0.150653 0 0 FAM47B 170062 broad.mit.edu 37 X 34961693 34961693 + Missense_Mutation SNP G G T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chrX:34961693G>T ENST00000329357.5 + 1 781 c.745G>T c.(745-747)Gtg>Ttg p.V249L NM_152631.2 NP_689844.2 Q8NA70 FA47B_HUMAN family with sequence similarity 47, member B 249 Pro-rich. p.V249M(1) breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3) 71 TCATCTCCGCGTGGATCCTCC 0.627000 16 49 2.48551e-13 3.38487e-13 0.160694 1 0 NCOA6 23054 broad.mit.edu 37 20 33345447 33345447 + Silent SNP C C A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr20:33345447C>A ENST00000374796.2 - 8 3674 c.1104G>T c.(1102-1104)acG>acT p.T368T NCOA6_ENST00000359003.2_Silent_p.T368T Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 368 CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1) 107 GGTGGGAAGGCGTCTGTACCG 0.577000 8 47 1.12685e-05 1.3329e-05 0.047766 1 0 OR2T34 127068 broad.mit.edu 37 1 248737278 248737278 + Missense_Mutation SNP A A G TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr1:248737278A>G ENST00000328782.2 - 1 802 c.781T>C c.(781-783)Ttc>Ctc p.F261L NM_001001821.1 NP_001001821.1 Q8NGX1 O2T34_HUMAN olfactory receptor, family 2, subfamily T, member 34 261 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3) 43 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) TAGGTGTAGAAGGAAGCACCG 0.557000 27 73 0 0 0.111260 0 0 DST 667 broad.mit.edu 37 6 56484807 56484807 + Missense_Mutation SNP T T A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr6:56484807T>A ENST00000370765.6 - 23 4132 c.4025A>T c.(4024-4026)cAg>cTg p.Q1342L DST_ENST00000421834.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000244364.6_Intron NM_001723.5 NP_001714.1 Q03001 DYST_HUMAN dystonin 4990 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) TGATGTAGCCTGTGTGATCGG 0.408000 16 90 0 0 0.204396 0 0 CCDC113 29070 broad.mit.edu 37 16 58296307 58296307 + Missense_Mutation SNP G G C TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr16:58296307G>C ENST00000219299.4 + 6 725 c.646G>C c.(646-648)Gcc>Ccc p.A216P CCDC113_ENST00000443128.2_Missense_Mutation_p.A162P NM_014157.3 NP_054876.2 Q9H0I3 CC113_HUMAN coiled-coil domain containing 113 216 protein complex large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1) 12 GGTGAGTGAGGCCCTTCACGA 0.418000 17 100 0 0 0.160694 0 0 CUBN 8029 broad.mit.edu 37 10 16911667 16911667 + Missense_Mutation SNP T T A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr10:16911667T>A ENST00000377833.4 - 59 9487 c.9422A>T c.(9421-9423)aAa>aTa p.K3141I NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 3141 CUB 23. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8) 241 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) CTTCCAGCCTTTTGCTGTCTG 0.428000 11 105 0 0 0.093190 0 0 PIH1D3 139212 broad.mit.edu 37 X 106462128 106462128 + Silent SNP C C T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chrX:106462128C>T ENST00000535523.1 + 5 598 c.261C>T c.(259-261)gaC>gaT p.D87D PIH1D3_ENST00000372453.3_Silent_p.D87D|PIH1D3_ENST00000336387.4_Silent_p.D87D NM_001169154.1 NP_001162625.1 PIH1 domain containing 3 ATAATGAGGACATCTGGAATT 0.403000 4 43 0 0 0.184627 0 0 PABPC3 5042 broad.mit.edu 37 13 25671839 25671839 + Silent SNP C C T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr13:25671839C>T ENST00000281589.3 + 1 1540 c.1503C>T c.(1501-1503)cgC>cgT p.R501R NM_030979.2 NP_112241.2 Q9H361 PABP3_HUMAN poly(A) binding protein, cytoplasmic 3 501 mRNA metabolic process cytoplasm nucleotide binding|poly(A) RNA binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) ctgctgTGCGCACGGTTCCAC 0.532000 5 24 0 0 0.047766 0 0 RGPD3 653489 broad.mit.edu 37 2 107040987 107040987 + Nonsense_Mutation SNP G G A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr2:107040987G>A ENST00000409886.3 - 20 3523 c.3436C>T c.(3436-3438)Cga>Tga p.R1146* RGPD3_ENST00000304514.7_Nonsense_Mutation_p.R1146* NM_001144013.1 NP_001137485.1 A6NKT7 RGPD3_HUMAN RANBP2-like and GRIP domain containing 3 1146 RanBD1 1. intracellular transport binding breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2) 71 GCTGCCAATCGCTCTAGTTTG 0.453000 32 169 0 0 0.163468 0 0 GGCX 2677 broad.mit.edu 37 2 85781383 85781383 + Missense_Mutation SNP C C T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr2:85781383C>T ENST00000233838.3 - 7 852 c.772G>A c.(772-774)Ggt>Agt p.G258S GGCX_ENST00000430215.3_Missense_Mutation_p.G201S|GGCX_ENST00000473665.1_5'UTR NM_000821.5 NP_000812.2 P38435 VKGC_HUMAN gamma-glutamyl carboxylase 258 blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification endoplasmic reticulum membrane|integral to membrane|membrane fraction gamma-glutamyl carboxylase activity endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2) 15 Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022) AGCAGCCCACCCCAGTGCACG 0.502000 6 86 0 0 0.038147 0 0 HOXD1 3231 broad.mit.edu 37 2 177054663 177054663 + Missense_Mutation SNP C C G TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr2:177054663C>G ENST00000331462.4 + 2 1003 c.780C>G c.(778-780)atC>atG p.I260M NM_024501.1 NP_078777.1 Q9GZZ0 HXD1_HUMAN homeobox D1 260 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) CCCGGCGCATCGAGATAGCCA 0.498000 31 194 0 0 0.163468 0 0 SPARC 6678 broad.mit.edu 37 5 151043764 151043764 + Missense_Mutation SNP C C G TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr5:151043764C>G ENST00000231061.4 - 9 1080 c.767G>C c.(766-768)cGt>cCt p.R256P NM_003118.3 NP_003109.1 P09486 SPRC_HUMAN secreted protein, acidic, cysteine-rich (osteonectin) 256 ossification|platelet activation|platelet degranulation|signal transduction basement membrane|extracellular space|platelet alpha granule lumen calcium ion binding|collagen binding central_nervous_system(3)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1) 15 Medulloblastoma(196;0.109)|all_hematologic(541;0.122) Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) OV - Ovarian serous cystadenocarcinoma(192;0.00118) Becaplermin(DB00102) GAGGGGAGCACGCAGTGGAGC 0.622000 9 23 0 0 0.047766 0 0 ARAP3 64411 broad.mit.edu 37 5 141059221 141059221 + Missense_Mutation SNP G G T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr5:141059221G>T ENST00000239440.4 - 4 654 c.589C>A c.(589-591)Cac>Aac p.H197N ARAP3_ENST00000508305.1_Missense_Mutation_p.H119N NM_022481.5 NP_071926.4 Q8WWN8 ARAP3_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 197 cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1) 53 TCCATGATGTGCACTGGCAGG 0.597000 5 22 3.59834e-05 4.18458e-05 0.217242 1 0 GARS 2617 broad.mit.edu 37 7 30643155 30643155 + Missense_Mutation SNP A A C TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr7:30643155A>C ENST00000389266.3 + 6 943 c.702A>C c.(700-702)gaA>gaC p.E234D NM_002047.2 NP_002038.2 P41250 SYG_HUMAN glycyl-tRNA synthetase 234 cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation cytosol|mitochondrial matrix|soluble fraction ATP binding|glycine-tRNA ligase activity|protein dimerization activity breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1) 24 Glycine(DB00145) GTTCTGTCGAAAAGAAATCAG 0.378000 4 37 0 0 0.184627 0 0 PDGFRA 5156 broad.mit.edu 37 4 55127551 55127551 + Missense_Mutation SNP A A C TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr4:55127551A>C ENST00000257290.5 + 3 670 c.339A>C c.(337-339)gaA>gaC p.E113D FIP1L1_ENST00000507166.1_Intron|PDGFRA_ENST00000508170.1_Missense_Mutation_p.E113D NM_006206.4 NP_006197.1 P16234 PGFRA_HUMAN platelet-derived growth factor receptor, alpha polypeptide 113 Ig-like C2-type 1. cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1) 967 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) ATGAGCTTGAAGGCAGGCACA 0.483000 """Mis, O, T""" FIP1L1 """GIST, idiopathic hypereosinophilic syndrome, paediatric GBM""" Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis TSP Lung(21;0.16) 33 166 0 0 0.225048 0 0 ASCL4 121549 broad.mit.edu 37 12 108169129 108169129 + Missense_Mutation SNP C C A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr12:108169129C>A ENST00000342331.4 + 1 968 c.137C>A c.(136-138)gCg>gAg p.A46E NM_203436.2 NP_982260.2 Q6XD76 ASCL4_HUMAN achaete-scute family bHLH transcription factor 4 45 regulation of transcription from RNA polymerase II promoter|skin development|transcription, DNA-dependent nucleus DNA binding breast(2)|central_nervous_system(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1) 13 CTGGACGCCGCGTGCTGGGAG 0.741000 3 6 6.4e-05 7.36162e-05 0.115264 1 0 DYTN 391475 broad.mit.edu 37 2 207527871 207527871 + Silent SNP G G T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr2:207527871G>T ENST00000452335.2 - 11 1505 c.1389C>A c.(1387-1389)acC>acA p.T463T NM_001093730.1 NP_001087199.1 A2CJ06 DYTN_HUMAN dystrotelin 463 plasma membrane zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1) 36 LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153) TTTGTGCCCTGGTGCTGTGCA 0.483000 5 69 0.014758 0.0153899 0.184627 1 0 ZIC3 7547 broad.mit.edu 37 X 136652166 136652166 + Silent SNP A A C TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chrX:136652166A>C ENST00000287538.5 + 3 1891 c.1341A>C c.(1339-1341)gcA>gcC p.A447A ZIC3_ENST00000370606.3_Intron NM_003413.3 NP_003404.1 O60481 ZIC3_HUMAN Zic family member 3 447 cell differentiation|positive regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1) 37 Acute lymphoblastic leukemia(192;0.000127) CCCCTTCTGCAGTTCAAACTA 0.463000 10 59 0 0 0.058154 0 0 BAGE2 85319 broad.mit.edu 37 21 11058340 11058340 + RNA SNP A A C rs28617310 by1000genomes TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr21:11058340A>C ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GGGGTAAAGGAGAGAAATCTC 0.363000 10 122 0 0 0.069234 0 0 NPSR1 387129 broad.mit.edu 37 7 34867013 34867013 + Splice_Site SNP A A G TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr7:34867013A>G ENST00000360581.1 + 5 607 c.478_splice c.e5-1 p.E160_splice NPSR1_ENST00000381542.1_Splice_Site_p.E94_splice|NPSR1_ENST00000531252.1_Splice_Site_p.E149_splice|NPSR1_ENST00000381539.3_Splice_Site_p.E160_splice|NPSR1_ENST00000359791.1_Splice_Site_p.E160_splice NM_207172.1 NP_997055.1 Q6W5P4 NPSR1_HUMAN neuropeptide S receptor 1 160 cytoplasm|integral to membrane|plasma membrane vasopressin receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7) 31 Halothane(DB01159) CTTTGGGCAGAAAAGCAAGCC 0.502000 6 72 0 0 0.217242 0 0 SLC24A3 57419 broad.mit.edu 37 20 19665877 19665877 + Missense_Mutation SNP G G A rs75574349 byFrequency TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr20:19665877G>A ENST00000328041.6 + 12 1393 c.1196G>A c.(1195-1197)cGg>cAg p.R399Q NM_020689.3 NP_065740.2 Q9HC58 NCKX3_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 399 integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 AATGGGACACGGAGGGACGAT 0.532000 5 78 0 0 0.217242 0 0 ZNF582 147948 broad.mit.edu 37 19 56895314 56895314 + Missense_Mutation SNP C C T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr19:56895314C>T ENST00000301310.4 - 5 1630 c.1472G>A c.(1471-1473)aGt>aAt p.S491N ZNF582_ENST00000586929.1_Missense_Mutation_p.S491N NM_144690.1 NP_653291.1 Q96NG8 ZN582_HUMAN zinc finger protein 582 491 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0547) TAAGGGGTAACTGCTGATGGA 0.388000 19 102 0 0 0.219247 0 0 ANKRD30BP2 149992 broad.mit.edu 37 21 14414855 14414855 + RNA SNP A A G rs141732548 by1000genomes TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr21:14414855A>G ENST00000507941.1 + 0 95 GCCAATGGCCATGCAGAAGTA 0.448000 4 50 0 0 0.217242 0 0 FAM47A 158724 broad.mit.edu 37 X 34149861 34149861 + Missense_Mutation SNP G G C TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chrX:34149861G>C ENST00000346193.3 - 1 586 c.535C>G c.(535-537)Cct>Gct p.P179A NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 179 Pro-rich. NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 TGTTTACCAGGCTCAGTGGGT 0.577000 25 51 0 0 0.099896 0 0 FAM135B 51059 broad.mit.edu 37 8 139153549 139153549 + Missense_Mutation SNP G G T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr8:139153549G>T ENST00000395297.1 - 17 3852 c.3682C>A c.(3682-3684)Ctc>Atc p.L1228I NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 1228 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) GGCCGTGTGAGGACCGATCGG 0.547000 HNSCC(54;0.14) 19 105 4.4004e-07 5.48725e-07 0.083992 1 0 KCNH5 27133 broad.mit.edu 37 14 63316464 63316464 + Silent SNP T T C TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr14:63316464T>C ENST00000322893.7 - 8 1744 c.1476A>G c.(1474-1476)ctA>ctG p.L492L KCNH5_ENST00000394968.1_Silent_p.L434L|KCNH5_ENST00000420622.2_Silent_p.L492L NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 492 regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) GATAGAGTTTTAGGAAGTCCC 0.393000 20 89 0 0 0.234183 0 0 CSMD3 114788 broad.mit.edu 37 8 113569006 113569006 + Missense_Mutation SNP A A G TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr8:113569006A>G ENST00000297405.5 - 25 4464 c.4220T>C c.(4219-4221)cTg>cCg p.L1407P CSMD3_ENST00000352409.3_Missense_Mutation_p.L1407P|CSMD3_ENST00000343508.3_Missense_Mutation_p.L1367P|CSMD3_ENST00000455883.2_Missense_Mutation_p.L1303P NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 1407 Sushi 7. integral to membrane|plasma membrane 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 ACAGGAAGGCAGAGGATAGTC 0.408000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 6 52 0 0 0.058154 0 0 OR2L13 284521 broad.mit.edu 37 1 248262962 248262962 + Silent SNP A A T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr1:248262962A>T ENST00000366478.2 + 3 622 c.285A>T c.(283-285)ggA>ggT p.G95G OR2L13_ENST00000358120.2_Silent_p.G95G NM_175911.2 NP_787107.1 Q8N349 OR2LD_HUMAN olfactory receptor, family 2, subfamily L, member 13 95 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity|protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 59 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;0.0132) CCTTCCTGGGATGTGGTGTGC 0.547000 62 263 0 0 0.139131 0 0 TTC27 55622 broad.mit.edu 37 2 32961852 32961852 + Missense_Mutation SNP T T G TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr2:32961852T>G ENST00000317907.4 + 12 1652 c.1421T>G c.(1420-1422)aTt>aGt p.I474S NM_001193509.1|NM_017735.4 NP_001180438.1|NP_060205.3 Q6P3X3 TTC27_HUMAN tetratricopeptide repeat domain 27 474 protein binding breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 38 GATGTTGTCATTTGTTATGAA 0.433000 7 16 0 0 0.248553 0 0 ITGB3 3690 broad.mit.edu 37 17 45368339 45368339 + Missense_Mutation SNP A A G TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr17:45368339A>G ENST00000559488.1 + 9 1161 c.1145A>G c.(1144-1146)gAg>gGg p.E382G ITGB3_ENST00000435993.2_Missense_Mutation_p.E335G|ITGB3_ENST00000571680.1_Missense_Mutation_p.E382G|ITGB3_ENST00000560629.1_Silent_p.R370R NM_000212.2 NP_000203.2 P05106 ITB3_HUMAN integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) 382 activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 39 Abciximab(DB00054)|Tirofiban(DB00775) TCTAAAGTAGAGCTGGAAGTG 0.488000 5 126 0 0 0.038147 0 0 TTN 7273 broad.mit.edu 37 2 179604128 179604128 + Missense_Mutation SNP G G C TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr2:179604128G>C ENST00000589042.1 - 48 14056 c.13832C>G c.(13831-13833)cCt>cGt p.P4611R TTN_ENST00000342175.6_Missense_Mutation_p.P4440R|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Missense_Mutation_p.P4248R|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P4294R|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P4373R NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 4294 Ig-like 26. 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) GTCCACTAAAGGTGTATGTAT 0.423000 18 92 0 0 0.189662 0 0 SLC27A6 28965 broad.mit.edu 37 5 128362981 128362981 + Missense_Mutation SNP G G T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr5:128362981G>T ENST00000262462.4 + 7 2421 c.1411G>T c.(1411-1413)Gac>Tac p.D471Y SLC27A6_ENST00000506176.1_Missense_Mutation_p.D471Y|SLC27A6_ENST00000395266.1_Missense_Mutation_p.D471Y Q9Y2P4 S27A6_HUMAN solute carrier family 27 (fatty acid transporter), member 6 471 long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process integral to membrane|sarcolemma fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1) 44 all_cancers(142;0.0483)|Prostate(80;0.055) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186) CCAGGATCAGGACAATTTCCT 0.378000 10 59 3.86212e-05 4.46625e-05 0.069234 1 0 LAMA4 3910 broad.mit.edu 37 6 112463320 112463320 + Splice_Site SNP C C T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr6:112463320C>T ENST00000230538.7 - 20 3065 c.e20+1 LAMA4_ENST00000389463.4_Splice_Site|LAMA4_ENST00000522006.1_Splice_Site|LAMA4_ENST00000424408.2_Splice_Site NM_001105206.2 NP_001098676.2 Q16363 LAMA4_HUMAN laminin, alpha 4 cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8) 100 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) CATGTGCTTACGTTTTTGCTT 0.453000 16 52 0 0 0.132662 0 0 SLC17A3 10786 broad.mit.edu 37 6 25861921 25861921 + Missense_Mutation SNP G G C TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr6:25861921G>C ENST00000397060.4 - 5 665 c.556C>G c.(556-558)Cag>Gag p.Q186E SLC17A3_ENST00000361703.6_Missense_Mutation_p.Q108E|SLC17A3_ENST00000360657.3_Missense_Mutation_p.Q108E NM_001098486.1 NP_001091956.1 O00476 NPT4_HUMAN solute carrier family 17 (organic anion transporter), member 3 108 glucose-6-phosphate transport|urate metabolic process apical plasma membrane|brush border membrane|endoplasmic reticulum membrane|integral to plasma membrane|perinuclear region of cytoplasm drug transmembrane transporter activity|efflux transmembrane transporter activity|organic anion transmembrane transporter activity|sodium:phosphate symporter activity|toxin transporter activity|urate transmembrane transporter activity|voltage-gated anion channel activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(10)|prostate(1) 20 ATTGCAAACTGACCCCCAAGT 0.393000 16 55 0 0 0.189662 0 0 ADAMDEC1 27299 broad.mit.edu 37 8 24250787 24250787 + Translation_Start_Site SNP C C A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr8:24250787C>A ENST00000538205.1 + 0 530 ADAMDEC1_ENST00000522298.1_De_novo_Start_OutOfFrame|RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000256412.4_Missense_Mutation_p.P74T|RP11-624C23.1_ENST00000519689.1_RNA NM_001145271.1 NP_001138743.1 O15204 ADEC1_HUMAN ADAM-like, decysin 1 integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis extracellular region|integral to membrane integrin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1) 9 Prostate(55;0.0181) Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168) AAGGTATGAACCTGAAGTTCA 0.284000 5 24 5.9392e-07 7.36176e-07 0.217242 1 0 ZNF514 84874 broad.mit.edu 37 2 95815962 95815962 + Missense_Mutation SNP A A G TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr2:95815962A>G ENST00000295208.2 - 5 730 c.268T>C c.(268-270)Tcc>Ccc p.S90P ZNF514_ENST00000411425.1_Missense_Mutation_p.S90P NM_032788.1 NP_116177.1 Q96K75 ZN514_HUMAN zinc finger protein 514 90 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(4)|lung(6)|urinary_tract(1) 11 TCTTCTTTGGAAATTCCCCAA 0.378000 16 118 0 0 0.132662 0 0 TTN 7273 broad.mit.edu 37 2 179465807 179465807 + Silent SNP G G A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr2:179465807G>A ENST00000589042.1 - 288 56048 c.55824C>T c.(55822-55824)ggC>ggT p.G18608G TTN_ENST00000342175.6_Silent_p.G9735G|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Silent_p.G16040G|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Silent_p.G9543G|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Silent_p.G16967G|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Silent_p.G9668G NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 16967 Fibronectin type-III 34. 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) TAACAGGGGAGCCCCCATCAT 0.478000 13 86 0 0 0.119110 0 0 RGL1 23179 broad.mit.edu 37 1 183885736 183885736 + Silent SNP G G T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr1:183885736G>T ENST00000304685.3 + 17 2471 c.2010G>T c.(2008-2010)tcG>tcT p.S670S RGL1_ENST00000367531.1_Silent_p.S670S|RGL1_ENST00000536277.1_Silent_p.S633S|RGL1_ENST00000539189.1_Silent_p.S606S|RGL1_ENST00000360851.3_Silent_p.S635S NM_015149.3 NP_055964.3 Q9NZL6 RGL1_HUMAN ral guanine nucleotide dissociation stimulator-like 1 635 Ras-associating. cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular protein binding|Ral guanyl-nucleotide exchange factor activity breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1) 51 CCATTACCTCGACTGTGCTGC 0.507000 31 98 6.00712e-18 8.40185e-18 0.163468 1 0 LAMA2 3908 broad.mit.edu 37 6 129802476 129802476 + Silent SNP A A G TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr6:129802476A>G ENST00000421865.2 + 55 7690 c.7641A>G c.(7639-7641)ggA>ggG p.G2547G RP1-69D17.3_ENST00000442449.1_RNA NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 2547 Laminin G-like 3. 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) TTGATGTAGGAACAGAAATCA 0.458000 14 100 0 0 0.119110 0 0 NAV3 89795 broad.mit.edu 37 12 78444689 78444689 + Missense_Mutation SNP G G T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr12:78444689G>T ENST00000397909.2 + 11 2451 c.2278G>T c.(2278-2280)Ggt>Tgt p.G760C NAV3_ENST00000536525.2_Missense_Mutation_p.G760C|NAV3_ENST00000228327.6_Missense_Mutation_p.G760C|NAV3_ENST00000266692.7_Missense_Mutation_p.G760C Q8IVL0 NAV3_HUMAN neuron navigator 3 760 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 TCCCTCCCTGGGTGCTGGCTA 0.597000 HNSCC(70;0.22) 7 30 1.6384e-10 2.19514e-10 0.248553 1 0 SLC4A10 57282 broad.mit.edu 37 2 162833373 162833373 + Missense_Mutation SNP T T C TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr2:162833373T>C ENST00000375514.5 + 25 3561 c.3274T>C c.(3274-3276)Ttt>Ctt p.F1092L SLC4A10_ENST00000446997.1_Missense_Mutation_p.F1111L|SLC4A10_ENST00000415876.2_Missense_Mutation_p.F1081L|SLC4A10_ENST00000272716.5_Missense_Mutation_p.F1081L|SLC4A10_ENST00000421911.1_Intron NM_001178016.1 NP_001171487.1 Q6U841 S4A10_HUMAN solute carrier family 4, sodium bicarbonate transporter, member 10 1111 bicarbonate transport|chloride transport|sodium ion transport integral to membrane|plasma membrane inorganic anion exchanger activity|symporter activity endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 GGAGTCAAGCTTTCCTTCCAA 0.318000 6 14 0 0 0.217242 0 0 CCDC129 223075 broad.mit.edu 37 7 31691641 31691641 + Missense_Mutation SNP C C A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr7:31691641C>A ENST00000319386.3 + 13 3349 c.2356C>A c.(2356-2358)Caa>Aaa p.Q786K CCDC129_ENST00000409210.1_Missense_Mutation_p.Q842K|CCDC129_ENST00000451887.2_Missense_Mutation_p.Q960K|CCDC129_ENST00000407970.3_Missense_Mutation_p.Q934K Q6ZRS4 CC129_HUMAN coiled-coil domain containing 129 934 cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31) 44 CCGGGCTCAGCAAATCAGAGA 0.498000 8 28 1.12685e-05 1.3329e-05 0.047766 1 0 SMC1B 27127 broad.mit.edu 37 22 45750875 45750875 + Missense_Mutation SNP T T C TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr22:45750875T>C ENST00000357450.4 - 20 3081 c.3082A>G c.(3082-3084)Aag>Gag p.K1028E SMC1B_ENST00000404354.3_Missense_Mutation_p.K1028E NM_148674.3 NP_683515.3 Q8NDV3 SMC1B_HUMAN structural maintenance of chromosomes 1B 1028 chromosome organization|meiosis chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus ATP binding breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 37 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) CTGACAGTCTTTAAGTTCTCC 0.413000 5 48 0 0 0.184627 0 0 NUP133 55746 broad.mit.edu 37 1 229631292 229631292 + Missense_Mutation SNP T T A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr1:229631292T>A ENST00000261396.3 - 8 1087 c.996A>T c.(994-996)gaA>gaT p.E332D NUP133_ENST00000366679.1_Missense_Mutation_p.E332D|NUP133_ENST00000537506.1_Missense_Mutation_p.E316D NM_018230.2 NP_060700.2 Q8WUM0 NU133_HUMAN nucleoporin 133kDa 332 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4) 56 Breast(184;0.104)|Ovarian(103;0.249) Prostate(94;0.167) CTTTAATAGCTTCATAGTTAC 0.323000 6 22 0 0 0.248553 0 0 GOLGA3 2802 broad.mit.edu 37 12 133381309 133381309 + Missense_Mutation SNP G G T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr12:133381309G>T ENST00000204726.3 - 7 2148 c.1590C>A c.(1588-1590)gaC>gaA p.D530E GOLGA3_ENST00000537452.1_Missense_Mutation_p.D530E|GOLGA3_ENST00000456883.2_Missense_Mutation_p.D530E|GOLGA3_ENST00000450791.2_Missense_Mutation_p.D530E|GOLGA3_ENST00000545875.1_Missense_Mutation_p.D530E NM_005895.3 NP_005886.2 Q08378 GOGA3_HUMAN golgin A3 530 intra-Golgi vesicle-mediated transport Golgi cisterna membrane|Golgi transport complex protein binding|transporter activity breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0176)|Lung NSC(355;0.204) OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06) CACCTGTGTTGTCCTTGCTGA 0.652000 8 30 1.12685e-05 1.3329e-05 0.047766 1 0 CNTN1 1272 broad.mit.edu 37 12 41333204 41333204 + Silent SNP G G C TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr12:41333204G>C ENST00000551295.2 + 12 1413 c.1296G>C c.(1294-1296)gtG>gtC p.V432V CNTN1_ENST00000547702.1_Silent_p.V432V|CNTN1_ENST00000347616.1_Silent_p.V432V|CNTN1_ENST00000360099.3_Silent_p.V432V|CNTN1_ENST00000547849.1_Silent_p.V432V|CNTN1_ENST00000348761.2_Silent_p.V421V NM_001843.3 NP_001834.2 Q12860 CNTN1_HUMAN contactin 1 432 Ig-like C2-type 5. axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 90 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) GTGGAAGGGTGATAATTGAAT 0.398000 4 46 0 0 0.150653 0 0 KIF21A 55605 broad.mit.edu 37 12 39750632 39750632 + Splice_Site SNP A A G TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr12:39750632A>G ENST00000395670.3 - 10 1889 c.e10+1 KIF21A_ENST00000544797.2_Splice_Site|KIF21A_ENST00000541463.2_Splice_Site|KIF21A_ENST00000361961.3_Splice_Site|KIF21A_ENST00000361418.5_Splice_Site Q7Z4S6 KI21A_HUMAN kinesin family member 21A microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 86 Lung NSC(34;0.179)|all_lung(34;0.213) CATGAACTATACCTGAGATCT 0.289000 9 41 0 0 0.058154 0 0 EFHC1 114327 broad.mit.edu 37 6 52303263 52303263 + Silent SNP A A T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr6:52303263A>T ENST00000371068.5 + 3 550 c.447A>T c.(445-447)atA>atT p.I149I EFHC1_ENST00000538167.1_Silent_p.I130I|EFHC1_ENST00000433625.2_Silent_p.I58I|EFHC1_ENST00000491749.1_3'UTR NM_018100.3 NP_060570.2 Q5JVL4 EFHC1_HUMAN EF-hand domain (C-terminal) containing 1 149 DM10 1. axoneme|neuronal cell body calcium ion binding|protein C-terminus binding breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 27 Lung NSC(77;0.109) GCAAGTTAATAAAACGCCAGC 0.423000 8 36 0 0 0.080935 0 0 LRRTM1 347730 broad.mit.edu 37 2 80529899 80529899 + Missense_Mutation SNP T T A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr2:80529899T>A ENST00000295057.3 - 2 1702 c.1046A>T c.(1045-1047)cAg>cTg p.Q349L CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000496558.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.Q349L|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000540488.1_Intron NM_178839.4 NP_849161.2 Q86UE6 LRRT1_HUMAN leucine rich repeat transmembrane neuronal 1 349 LRRCT. axon|endoplasmic reticulum membrane|growth cone|integral to membrane NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 63 GTCCTCGCCCTGTGCGTACTC 0.672000 HNSCC(69;0.2) 4 15 0 0 0.150653 0 0 MUC16 94025 broad.mit.edu 37 19 9071130 9071130 + Missense_Mutation SNP G G T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr19:9071130G>T ENST00000397910.4 - 3 16519 c.16316C>A c.(16315-16317)tCt>tAt p.S5439Y NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 5441 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 AGCTAGGACAGAGGATTGTGA 0.498000 34 263 3.09479e-21 4.37284e-21 0.246493 1 0 ZNF808 388558 broad.mit.edu 37 19 53058234 53058234 + Missense_Mutation SNP G G A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr19:53058234G>A ENST00000359798.4 + 5 2245 c.2065G>A c.(2065-2067)Gtg>Atg p.V689M NM_001039886.3 NP_001034975.2 Q8N4W9 ZN808_HUMAN zinc finger protein 808 689 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(8)|kidney(3)|lung(12)|urinary_tract(1) 24 OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213) CAAGGCTTTCGTGTGTCGTTC 0.423000 13 306 0 0 0.132662 0 0 MAOA 4128 broad.mit.edu 37 X 43590552 43590552 + Missense_Mutation SNP A A G TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chrX:43590552A>G ENST00000338702.3 + 7 833 c.710A>G c.(709-711)cAa>cGa p.Q237R MAOA_ENST00000542639.1_Missense_Mutation_p.Q104R|MAOA_ENST00000497485.1_3'UTR NM_000240.3 NP_000231.1 P21397 AOFA_HUMAN monoamine oxidase A 237 behavior|neurotransmitter biosynthetic process|neurotransmitter catabolic process|neurotransmitter secretion|xenobiotic metabolic process integral to membrane|mitochondrial outer membrane primary amine oxidase activity|protein binding NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 18 Almotriptan(DB00918)|Carbidopa(DB00190)|Clonazepam(DB01068)|Dopamine(DB00988)|Fluvoxamine(DB00176)|Ginkgo biloba(DB01381)|Imipramine(DB00458)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Linezolid(DB00601)|Lorazepam(DB00186)|Moclobemide(DB01171)|Nicotine(DB00184)|Norepinephrine(DB00368)|Phenelzine(DB00780)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Rasagiline(DB01367)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315) CTCGGAGACCAAGTGAAGCTG 0.458000 13 12 0 0 0.105934 0 0 OR8B4 283162 broad.mit.edu 37 11 124294638 124294638 + Missense_Mutation SNP C C A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr11:124294638C>A ENST00000356130.3 - 1 151 c.130G>T c.(130-132)Ggc>Tgc p.G44C NM_001005196.1 NP_001005196.1 Q96RC9 OR8B4_HUMAN olfactory receptor, family 8, subfamily B, member 4 44 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1) 32 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) GTGATCAAGCCCAAGTTGCCC 0.433000 8 84 1.06961e-07 1.35006e-07 0.038147 1 0 CLYBL 171425 broad.mit.edu 37 13 100518543 100518543 + Missense_Mutation SNP G G C TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr13:100518543G>C ENST00000376355.3 + 5 613 c.582G>C c.(580-582)aaG>aaC p.K194N CLYBL_ENST00000444838.2_Missense_Mutation_p.K194N|CLYBL_ENST00000339105.4_Missense_Mutation_p.K228N|CLYBL_ENST00000376354.1_Missense_Mutation_p.K194N|CLYBL_ENST00000376360.1_Missense_Mutation_p.K228N NM_206808.2 NP_996531.1 Q8N0X4 CLYBL_HUMAN citrate lyase beta like 228 cellular aromatic compound metabolic process citrate lyase complex|mitochondrion citrate (pro-3S)-lyase activity|metal ion binding NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2) 25 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) CCCGGCAAAAGATTGTTGTCA 0.453000 9 102 0 0 0.080935 0 0 MMS22L 253714 broad.mit.edu 37 6 97676987 97676987 + Missense_Mutation SNP C C A rs141217754 TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr6:97676987C>A ENST00000275053.4 - 14 2087 c.1822G>T c.(1822-1824)Gtg>Ttg p.V608L MMS22L_ENST00000369251.2_Missense_Mutation_p.V568L NM_198468.2 NP_940870.2 Q6ZRQ5 MMS22_HUMAN MMS22-like, DNA repair protein 608 double-strand break repair via homologous recombination|replication fork processing nuclear replication fork protein binding breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 50 TTCTTAGACACCAAGAATTCC 0.418000 15 59 1.35283e-19 1.89855e-19 0.146539 1 0 CCDC88A 55704 broad.mit.edu 37 2 55546086 55546086 + Missense_Mutation SNP C C G TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr2:55546086C>G ENST00000436346.1 - 19 4058 c.3217G>C c.(3217-3219)Gag>Cag p.E1073Q CCDC88A_ENST00000413716.2_Missense_Mutation_p.E1072Q|CCDC88A_ENST00000336838.6_Missense_Mutation_p.E1072Q|CCDC88A_ENST00000263630.8_Missense_Mutation_p.E1073Q|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000599352.1_RNA|AC012358.8_ENST00000599475.1_RNA|AC012358.8_ENST00000594078.1_RNA NM_001135597.1|NM_001254943.1 NP_001129069.1|NP_001241872.1 Q3V6T2 GRDN_HUMAN coiled-coil domain containing 88A 1073 activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1) 69 TTCTGTGTCTCAAGTTGCTTC 0.383000 5 40 0 0 0.217242 0 0 CLCA2 9635 broad.mit.edu 37 1 86913416 86913416 + Nonsense_Mutation SNP G G T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr1:86913416G>T ENST00000370565.4 + 11 2101 c.1939G>T c.(1939-1941)Gag>Tag p.E647* NM_006536.5 NP_006527.1 Q9UQC9 CLCA2_HUMAN chloride channel accessory 2 647 cell adhesion basal plasma membrane|cell junction|extracellular region|integral to plasma membrane chloride channel activity NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 42 Lung NSC(277;0.238) all cancers(265;0.0233)|Epithelial(280;0.0452) AGTTGAGCCAGAGACTGGAGA 0.433000 4 61 0.184627 0.188265 0.184627 1 0 DNER 92737 broad.mit.edu 37 2 230223358 230223358 + Missense_Mutation SNP C C A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr2:230223358C>A ENST00000341772.4 - 13 2246 c.2112G>T c.(2110-2112)aaG>aaT p.K704N NM_139072.3 NP_620711.3 Q8NFT8 DNER_HUMAN delta/notch-like EGF repeat containing 704 central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly dendrite|early endosome|integral to membrane|plasma membrane calcium ion binding|clathrin binding|transmembrane receptor activity NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 63 all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175) Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375) GCCGGGATTTCTTTCCAAACC 0.368000 10 44 0.00829132 0.00893908 0.069234 1 0 OGFOD1 55239 broad.mit.edu 37 16 56485540 56485540 + Missense_Mutation SNP C C T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr16:56485540C>T ENST00000566157.1 + 1 139 c.16C>T c.(16-18)Cca>Tca p.P6S OGFOD1_ENST00000568397.1_Missense_Mutation_p.P6S NM_018233.3 NP_060703.3 Q8N543 OGFD1_HUMAN 2-oxoglutarate and iron-dependent oxygenase domain containing 1 6 iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 8 Vitamin C(DB00126) TGGGAAGCGGCCAGCGGAGCC 0.567000 6 47 0 0 0.248553 0 0 SLC24A2 25769 broad.mit.edu 37 9 19521004 19521004 + Missense_Mutation SNP C C G TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr9:19521004C>G ENST00000341998.2 - 9 1685 c.1624G>C c.(1624-1626)Gct>Cct p.A542P SLC24A2_ENST00000286344.3_Missense_Mutation_p.A525P NM_001193288.2|NM_020344.3 NP_001180217.1|NP_065077.1 Q9UI40 NCKX2_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 2 542 visual perception integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 33 GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443) GAGGTCCCAGCAGCCAAGATG 0.478000 10 32 0 0 0.058154 0 0 MAP1A 4130 broad.mit.edu 37 15 43821529 43821529 + Silent SNP C C A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr15:43821529C>A ENST00000382031.1 + 5 8603 c.8572C>A c.(8572-8574)Cgg>Agg p.R2858R MAP1A_ENST00000300231.5_Silent_p.R2620R|MAP1A_ENST00000399453.1_Silent_p.R2620R P78559 MAP1A_HUMAN microtubule-associated protein 1A 2620 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 66 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) GTCCCCTGCACGGCGTCTGGA 0.647000 5 38 2.7689e-08 3.56001e-08 0.248553 1 0 ANO3 63982 broad.mit.edu 37 11 26669265 26669265 + Missense_Mutation SNP T T A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr11:26669265T>A ENST00000256737.3 + 24 3290 c.2438T>A c.(2437-2439)cTt>cAt p.L813H ANO3_ENST00000531568.1_Missense_Mutation_p.L667H|ANO3_ENST00000537978.1_Missense_Mutation_p.L797H|ANO3_ENST00000525139.1_Missense_Mutation_p.L797H NM_031418.2 NP_113606.2 Q9BYT9 ANO3_HUMAN anoctamin 3 813 chloride channel complex chloride channel activity breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 68 GGTATCTGGCTTGGAATTCTC 0.313000 9 40 0 0 0.105934 0 0 C8A 731 broad.mit.edu 37 1 57351650 57351650 + Silent SNP G G A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr1:57351650G>A ENST00000361249.3 + 7 1002 c.906G>A c.(904-906)aaG>aaA p.K302K NM_000562.2 NP_000553.1 P07357 CO8A_HUMAN complement component 8, alpha polypeptide 302 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular space|membrane attack complex NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 43 CACATTTTAAGATGAGGAAGG 0.388000 15 90 0 0 0.132662 0 0 IGF2 3481 broad.mit.edu 37 11 2161390 2161390 + Missense_Mutation SNP C C A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr11:2161390C>A ENST00000434045.2 - 2 521 c.137G>T c.(136-138)cGc>cTc p.R46L IGF2_ENST00000300632.5_Intron|IGF2_ENST00000337883.6_Intron|IGF2_ENST00000381389.1_Intron NM_001127598.1 NP_001121070.1 P01344 IGF2_HUMAN insulin-like growth factor 2 (somatomedin A) 0 B. glucose metabolic process|ossification|phosphatidylinositol 3-kinase cascade involved in insulin receptor signaling|positive regulation of activated T cell proliferation|positive regulation of cell division|positive regulation of glycogen (starch) synthase activity|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|skeletal system development extracellular space growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|protein serine/threonine kinase activator activity|receptor activator activity central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1) 6 all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24) Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029) BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153) CACCGGGGTGCGTCTAAGTAG 0.602000 3 7 0.115264 0.119001 0.115264 1 0 GRID2 2895 broad.mit.edu 37 4 94411878 94411878 + Silent SNP G G T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr4:94411878G>T ENST00000282020.4 + 12 2205 c.1947G>T c.(1945-1947)acG>acT p.T649T GRID2_ENST00000510992.1_Silent_p.T554T NM_001510.2 NP_001501.2 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 649 glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) CATCTTACACGGCAAACCTCG 0.438000 9 136 0.000442599 0.000495233 0.058154 1 0 NID2 22795 broad.mit.edu 37 14 52505684 52505684 + Missense_Mutation SNP T T C TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr14:52505684T>C ENST00000216286.5 - 9 2037 c.2038A>G c.(2038-2040)Aca>Gca p.T680A NID2_ENST00000541773.1_Missense_Mutation_p.T627A NM_007361.3 NP_031387.3 Q14112 NID2_HUMAN nidogen 2 (osteonidogen) 680 Nidogen G2 beta-barrel. basement membrane calcium ion binding|collagen binding NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 87 Breast(41;0.0639)|all_epithelial(31;0.123) CTGGAACTTGTAGAGGTCACA 0.413000 6 31 0 0 0.217242 0 0 PIGO 84720 broad.mit.edu 37 9 35094351 35094351 + Missense_Mutation SNP G G A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr9:35094351G>A ENST00000378617.3 - 3 911 c.517C>T c.(517-519)Cgt>Tgt p.R173C PIGO_ENST00000361778.2_Missense_Mutation_p.R173C|PIGO_ENST00000341666.3_Missense_Mutation_p.R173C|PIGO_ENST00000298004.5_Missense_Mutation_p.R173C NM_032634.3 NP_116023.2 Q8TEQ8 PIGO_HUMAN phosphatidylinositol glycan anchor biosynthesis, class O 173 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane transferase activity endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3) 38 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) AAGACTACACGCCTTCCTGCA 0.483000 11 87 0 0 0.105934 0 0 PCDH15 65217 broad.mit.edu 37 10 55582459 55582459 + Missense_Mutation SNP G G T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr10:55582459G>T ENST00000361849.3 - 34 5427 c.5033C>A c.(5032-5034)aCt>aAt p.T1678N PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.T1607N|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.T1673N|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.T1676N|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.T1653N|PCDH15_ENST00000395432.2_Missense_Mutation_p.T1636N NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1 NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 1676 equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) TCTTGAAACAGTTGGCAAAGT 0.418000 HNSCC(58;0.16) 4 79 0.00909568 0.00963072 0.150653 1 0 TMCO2 127391 broad.mit.edu 37 1 40713903 40713903 + Splice_Site SNP G G T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr1:40713903G>T ENST00000372766.3 + 1 330 c.e1+1 TMCO2_ENST00000468258.1_Intron NM_001008740.3 NP_001008740.1 Q7Z6W1 TMCO2_HUMAN transmembrane and coiled-coil domains 2 integral to membrane kidney(1)|large_intestine(3)|lung(1)|ovary(1) 6 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;6.3e-18) GTCAATTCAGGTTATACTCTT 0.333000 3 39 0.115264 0.119001 0.115264 1 0 HEPH 9843 broad.mit.edu 37 X 65392258 65392258 + Missense_Mutation SNP A A G TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chrX:65392258A>G ENST00000519389.1 + 3 570 c.391A>G c.(391-393)Atc>Gtc p.I131V HEPH_ENST00000336279.5_5'UTR|HEPH_ENST00000419594.1_Missense_Mutation_p.I80V|HEPH_ENST00000441993.2_Missense_Mutation_p.I80V|HEPH_ENST00000343002.2_Missense_Mutation_p.I77V|HEPH_ENST00000374727.3_Missense_Mutation_p.I80V Q9BQS7 HEPH_HUMAN hephaestin 77 Plastocyanin-like 1. cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 CAAGAAGACCATCTATAAAGA 0.493000 3 35 0 0 0.150653 0 0 CYP4F12 66002 broad.mit.edu 37 19 15784478 15784478 + Missense_Mutation SNP C C T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr19:15784478C>T ENST00000550308.1 + 2 519 c.139C>T c.(139-141)Cgg>Tgg p.R47W CYP4F12_ENST00000324632.9_Missense_Mutation_p.R47W NM_023944.3 NP_076433.3 cytochrome P450, family 4, subfamily F, polypeptide 12 NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 Acute lymphoblastic leukemia(2;0.0367) CAACTGCCGCCGGCTCCAGTG 0.597000 21 256 0 0 0.214465 0 0 IFI16 3428 broad.mit.edu 37 1 159002342 159002342 + Missense_Mutation SNP A A T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr1:159002342A>T ENST00000295809.7 + 7 1445 c.1190A>T c.(1189-1191)aAt>aTt p.N397I IFI16_ENST00000368132.3_Missense_Mutation_p.N397I|IFI16_ENST00000430894.2_Missense_Mutation_p.N345I|IFI16_ENST00000448393.2_Missense_Mutation_p.N397I|IFI16_ENST00000359709.3_Missense_Mutation_p.N341I|IFI16_ENST00000368131.4_Missense_Mutation_p.N397I|IFI16_ENST00000340979.6_Missense_Mutation_p.N397I Q16666 IF16_HUMAN interferon, gamma-inducible protein 16 397 cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent cytoplasm|nuclear speck|nucleolus double-stranded DNA binding|protein binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_hematologic(112;0.0429) CCGAGAAACAATGACCCCAAG 0.423000 19 113 0 0 0.083992 0 0 GP2 2813 broad.mit.edu 37 16 20335217 20335217 + Silent SNP C C A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr16:20335217C>A ENST00000302555.5 - 3 605 c.456G>T c.(454-456)gtG>gtT p.V152V GP2_ENST00000381360.5_Intron|GP2_ENST00000381362.4_Silent_p.V152V|GP2_ENST00000341642.5_Intron P55259 GP2_HUMAN glycoprotein 2 (zymogen granule membrane) 152 anchored to membrane|extracellular region|plasma membrane breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 CCTTCACCAGCACCTCTGTTT 0.587000 4 41 0.00909568 0.00963072 0.150653 1 0 PDZRN4 29951 broad.mit.edu 37 12 41903696 41903696 + Missense_Mutation SNP C C A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr12:41903696C>A ENST00000298919.7 + 5 792 c.404C>A c.(403-405)aCa>aAa p.T135K PDZRN4_ENST00000539469.2_Missense_Mutation_p.T137K|PDZRN4_ENST00000402685.2_Missense_Mutation_p.T395K Q6ZMN7 PZRN4_HUMAN PDZ domain containing ring finger 4 395 Gly-rich. 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) GCAGACAGAACAGAAGACTTT 0.373000 15 58 1.05317e-09 1.39301e-09 0.119110 1 0 PASK 23178 broad.mit.edu 37 2 242046118 242046118 + Missense_Mutation SNP C C G TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr2:242046118C>G ENST00000405260.1 - 18 4533 c.3835G>C c.(3835-3837)Gcg>Ccg p.A1279P PASK_ENST00000234040.4_Missense_Mutation_p.A1279P|PASK_ENST00000544142.1_Missense_Mutation_p.A1093P|PASK_ENST00000358649.4_Missense_Mutation_p.A1286P|PASK_ENST00000539818.1_Missense_Mutation_p.A1063P NM_001252120.1 NP_001239049.1 Q96RG2 PASK_HUMAN PAS domain containing serine/threonine kinase 1279 regulation of transcription, DNA-dependent Golgi apparatus ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2) 53 all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968) TCCAGGCTCGCAGCGGACAGA 0.522000 10 53 0 0 0.080935 0 0 STAB2 55576 broad.mit.edu 37 12 104031840 104031840 + Nonsense_Mutation SNP T T A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr12:104031840T>A ENST00000388887.2 + 8 960 c.756T>A c.(754-756)tgT>tgA p.C252* NM_017564.9 NP_060034.9 Q8WWQ8 STAB2_HUMAN stabilin 2 252 EGF-like 4. angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis cytoplasm|external side of plasma membrane|integral to plasma membrane Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2) 174 ATGCTCATTGTACGTACCTGG 0.498000 11 84 0 0 0.093190 0 0 TSPEAR 54084 broad.mit.edu 37 21 45987842 45987842 + Missense_Mutation SNP C C G TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr21:45987842C>G ENST00000323084.4 - 2 195 c.130G>C c.(130-132)Gcc>Ccc p.A44P TSPEAR_ENST00000397916.1_5'UTR NM_001272037.1|NM_144991.2 NP_001258966.1|NP_659428.2 Q8WU66 TSEAR_HUMAN thrombospondin-type laminin G domain and EAR repeats 44 cell adhesion extracellular region structural molecule activity breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2) 37 CCGCTTGTGGCGCCATCAGAA 0.597000 5 36 0 0 0.217242 0 0 ARHGAP32 9743 broad.mit.edu 37 11 128839487 128839487 + Missense_Mutation SNP C C T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr11:128839487C>T ENST00000310343.9 - 22 5578 c.5579G>A c.(5578-5580)aGc>aAc p.S1860N ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.S1511N|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.S1511N NM_001142685.1 NP_001136157.1 A7KAX9 RHG32_HUMAN Rho GTPase activating protein 32 1860 Interaction with FYN. cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane GTPase activator activity|phosphatidylinositol binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3) 60 CCTCAGGCTGCTCTGCTTCTG 0.572000 4 17 0 0 0.217242 0 0 OR5M3 219482 broad.mit.edu 37 11 56237921 56237921 + Missense_Mutation SNP C C A rs142752109 TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr11:56237921C>A ENST00000312240.2 - 1 93 c.53G>T c.(52-54)cGt>cTt p.R18L NM_001004742.2 NP_001004742.2 Q8NGP4 OR5M3_HUMAN olfactory receptor, family 5, subfamily M, member 3 18 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R18H(1) NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 37 Esophageal squamous(21;0.00448) CCATTCTCGACGGCTCGTTAG 0.398000 18 55 1.33834e-09 1.76456e-09 0.189662 1 0 ZNF181 339318 broad.mit.edu 37 19 35231858 35231858 + Missense_Mutation SNP A A G TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr19:35231858A>G ENST00000392232.3 + 6 872 c.704A>G c.(703-705)aAc>aGc p.N235S ZNF181_ENST00000492450.1_Missense_Mutation_p.N191S|ZNF181_ENST00000459757.1_Missense_Mutation_p.N190S Q2M3W8 ZN181_HUMAN zinc finger protein 181 191 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1) 22 all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.138) TTAAAGAAGAACTTACCAAAA 0.323000 8 44 0 0 0.038147 0 0 OR5H1 26341 broad.mit.edu 37 3 97852218 97852218 + Nonsense_Mutation SNP T T A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr3:97852218T>A ENST00000354565.2 + 1 677 c.677T>A c.(676-678)tTa>tAa p.L226* RP11-343D2.11_ENST00000508964.1_RNA NM_001005338.1 NP_001005338.1 A6NKK0 OR5H1_HUMAN olfactory receptor, family 5, subfamily H, member 1 226 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1) 34 TTCGCAATCTTAAAAAAGAAA 0.338000 13 58 0 0 0.119110 0 0 C10orf90 118611 broad.mit.edu 37 10 128153272 128153272 + Missense_Mutation SNP G G T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr10:128153272G>T ENST00000284694.7 - 4 1647 c.1527C>A c.(1525-1527)ttC>ttA p.F509L C10orf90_ENST00000544758.1_Missense_Mutation_p.F606L|C10orf90_ENST00000454341.1_Intron|C10orf90_ENST00000356858.3_Missense_Mutation_p.F462L NM_001004298.2 NP_001004298.2 Q96M02 CJ090_HUMAN chromosome 10 open reading frame 90 509 p.F509F(1) NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 65 all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203) COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479) TACCTTTGGGGAACTTGCTTT 0.458000 5 111 2.7689e-08 3.56001e-08 0.248553 1 0 DNAH2 146754 broad.mit.edu 37 17 7667441 7667441 + Silent SNP C C T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr17:7667441C>T ENST00000572933.1 + 20 4646 c.3186C>T c.(3184-3186)agC>agT p.S1062S DNAH2_ENST00000389173.2_Silent_p.S1062S Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 1062 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) TCAGAATCAGCCGCCCTCCGC 0.647000 4 48 0 0 0.150653 0 0 CARD16 114769 broad.mit.edu 37 11 104915311 104915311 + Missense_Mutation SNP C C T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr11:104915311C>T ENST00000375706.2 - 2 99 c.82G>A c.(82-84)Gaa>Aaa p.E28K CASP1_ENST00000415981.2_Intron|CASP1_ENST00000593315.1_Intron|CASP1_ENST00000598974.1_Intron|CARD16_ENST00000375704.3_Missense_Mutation_p.E28K|CASP1_ENST00000594519.1_Intron|CARD16_ENST00000525374.1_Missense_Mutation_p.E28K NM_001017534.1 NP_001017534.1 caspase recruitment domain family, member 16 endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1) 11 TGTAATAATTCATCCAGTAAG 0.423000 12 352 0 0 0.093190 0 0 TRANK1 9881 broad.mit.edu 37 3 36898690 36898690 + Missense_Mutation SNP T T A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr3:36898690T>A ENST00000301807.6 - 12 2638 c.741A>T c.(739-741)gaA>gaT p.E247D TRANK1_ENST00000429976.2_Missense_Mutation_p.E797D|TRANK1_ENST00000428977.2_Missense_Mutation_p.E247D NM_014831.2 NP_055646.2 O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 797 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 TCTTCAGCATTTCTGAAGTGC 0.512000 51 191 0 0 0.139131 0 0 PEG3 5178 broad.mit.edu 37 19 57328638 57328638 + Missense_Mutation SNP T T C TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr19:57328638T>C ENST00000326441.9 - 10 1535 c.1172A>G c.(1171-1173)aAg>aGg p.K391R ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.K267R|PEG3_ENST00000593695.1_Missense_Mutation_p.K265R|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.K391R|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000599935.1_Intron NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 391 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) ATAGCGCCTCTTTCTTTCAAG 0.448000 8 154 0 0 0.047766 0 0 KCND2 3751 broad.mit.edu 37 7 119915005 119915005 + Missense_Mutation SNP C C A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr7:119915005C>A ENST00000331113.4 + 1 1284 c.319C>A c.(319-321)Cct>Act p.P107T NM_012281.2 NP_036413.1 Q9NZV8 KCND2_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 2 107 regulation of action potential|synaptic transmission cell surface|dendritic spine metal ion binding NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 75 all_neural(327;0.117) GCTCCACTATCCTCGCCACGA 0.507000 13 121 7.93312e-07 9.80392e-07 0.119110 1 0 BFSP2 8419 broad.mit.edu 37 3 133119134 133119134 + Missense_Mutation SNP G G T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr3:133119134G>T ENST00000302334.2 + 1 296 c.207G>T c.(205-207)ttG>ttT p.L69F NM_003571.2 NP_003562.1 Q13515 BFSP2_HUMAN beaded filament structural protein 2, phakinin 69 Head. response to stimulus|visual perception cytoplasm|intermediate filament|membrane structural constituent of cytoskeleton|structural constituent of eye lens NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1) 13 TAGGTGGCTTGGGTGCCCGTG 0.662000 4 13 0.150653 0.154001 0.150653 1 0 CDH6 1004 broad.mit.edu 37 5 31323411 31323411 + Missense_Mutation SNP C C G TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr5:31323411C>G ENST00000265071.2 + 12 2634 c.2369C>G c.(2368-2370)tCc>tGc p.S790C NM_004932.3 NP_004923.1 P55285 CADH6_HUMAN cadherin 6, type 2, K-cadherin (fetal kidney) 790 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 GACAAAGACTCCTAATCTGTT 0.408000 15 74 0 0 0.175082 0 0 DSG1 1828 broad.mit.edu 37 18 28935116 28935116 + Missense_Mutation SNP C C A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr18:28935116C>A ENST00000257192.4 + 15 3169 c.2957C>A c.(2956-2958)gCt>gAt p.A986D RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG1_ENST00000462981.2_Missense_Mutation_p.A345D NM_001942.2 NP_001933.2 Q02413 DSG1_HUMAN desmoglein 1 986 Gly/Ser-rich. calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 76 OV - Ovarian serous cystadenocarcinoma(10;0.00559) AGCATGGGTGCTGGGAGCGGT 0.602000 15 85 6.31663e-08 8.04641e-08 0.132662 1 0 CARD16 114769 broad.mit.edu 37 11 104915140 104915140 + Missense_Mutation SNP C C G TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr11:104915140C>G ENST00000375706.2 - 2 270 c.253G>C c.(253-255)Gag>Cag p.E85Q CASP1_ENST00000415981.2_Intron|CASP1_ENST00000593315.1_Intron|CASP1_ENST00000598974.1_Intron|CARD16_ENST00000375704.3_Missense_Mutation_p.E85Q|CASP1_ENST00000594519.1_Intron|CARD16_ENST00000525374.1_Missense_Mutation_p.E85Q NM_001017534.1 NP_001017534.1 caspase recruitment domain family, member 16 endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1) 11 CCCAGCGTCTCTGCCAGGTAA 0.473000 9 277 0 0 0.058154 0 0 KIF2B 84643 broad.mit.edu 37 17 51901229 51901229 + Missense_Mutation SNP G G T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr17:51901229G>T ENST00000268919.4 + 1 991 c.835G>T c.(835-837)Gtg>Ttg p.V279L NM_032559.4 NP_115948.4 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 279 Kinesin-motor. blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 104 CAACGAGTTGGTGTACCAGTT 0.572000 3 37 0.004672 0.00505015 0.115264 1 0 PCDH15 65217 broad.mit.edu 37 10 55943338 55943338 + Missense_Mutation SNP C C A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr10:55943338C>A ENST00000373965.2 - 14 1871 c.1477G>T c.(1477-1479)Ggt>Tgt p.G493C PCDH15_ENST00000395446.1_Missense_Mutation_p.G486C|PCDH15_ENST00000437009.1_Missense_Mutation_p.G486C|PCDH15_ENST00000395445.1_Missense_Mutation_p.G493C|PCDH15_ENST00000414778.1_Missense_Mutation_p.G491C|PCDH15_ENST00000395430.1_Missense_Mutation_p.G486C|PCDH15_ENST00000409834.1_Missense_Mutation_p.G97C|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.G486C|PCDH15_ENST00000373957.3_Missense_Mutation_p.G464C|PCDH15_ENST00000373955.1_Missense_Mutation_p.G486C|PCDH15_ENST00000395438.1_Missense_Mutation_p.G486C|PCDH15_ENST00000361849.3_Missense_Mutation_p.G486C|PCDH15_ENST00000395433.1_Missense_Mutation_p.G464C|PCDH15_ENST00000395432.2_Missense_Mutation_p.G449C NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 486 Cadherin 4. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1) 237 Melanoma(3;0.117)|Lung SC(717;0.238) TCTTGTACACCATCAAATGCT 0.363000 HNSCC(58;0.16) 8 71 5.18039e-06 6.23454e-06 0.038147 1 0 WDR72 256764 broad.mit.edu 37 15 53889379 53889379 + Silent SNP G G T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr15:53889379G>T ENST00000396328.1 - 18 3284 c.3045C>A c.(3043-3045)tcC>tcA p.S1015S WDR72_ENST00000360509.5_Silent_p.S1015S|WDR72_ENST00000557913.1_Silent_p.S1012S|WDR72_ENST00000559418.1_Silent_p.S1025S NM_001277176.1|NM_182758.2 NP_001264105.1|NP_877435.3 Q3MJ13 WDR72_HUMAN WD repeat domain 72 1015 p.S1015S(1) NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 71 all cancers(107;0.0511) TCTCTGCCATGGACACTGGTT 0.448000 24 117 5.91797e-21 8.33346e-21 0.163468 1 0 C9orf84 158401 broad.mit.edu 37 9 114490023 114490023 + Missense_Mutation SNP C C T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr9:114490023C>T ENST00000394779.3 - 9 1659 c.1415G>A c.(1414-1416)gGc>gAc p.G472D C9orf84_ENST00000318737.4_Missense_Mutation_p.G511D|C9orf84_ENST00000374287.3_Missense_Mutation_p.G511D|C9orf84_ENST00000394777.4_Missense_Mutation_p.G472D NM_001080551.1 NP_001074020.1 Q5VXU9 CI084_HUMAN chromosome 9 open reading frame 84 511 p.G472D(1)|p.G511D(1) breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 TTGTTTTTTGCCATGTTCAAA 0.338000 3 57 0 0 0.150653 0 0 BCAS3 54828 broad.mit.edu 37 17 59161875 59161875 + Missense_Mutation SNP G G C TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr17:59161875G>C ENST00000589222.1 + 22 2443 c.2375G>C c.(2374-2376)cGt>cCt p.R792P BCAS3_ENST00000588462.1_Missense_Mutation_p.R807P|BCAS3_ENST00000390652.5_Missense_Mutation_p.R807P|BCAS3_ENST00000407086.3_Missense_Mutation_p.R792P|BCAS3_ENST00000585744.1_Missense_Mutation_p.R578P|BCAS3_ENST00000588874.1_Missense_Mutation_p.R563P|BCAS3_ENST00000408905.3_Missense_Mutation_p.R792P Q9H6U6 BCAS3_HUMAN breast carcinoma amplified sequence 3 807 nucleus NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06) GGGTCATCCCGTCCAGTCTCT 0.463000 9 29 0 0 0.058154 0 0 SPTA1 6708 broad.mit.edu 37 1 158585143 158585143 + Silent SNP C C A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr1:158585143C>A ENST00000368148.3 - 48 6831 c.6651G>T c.(6649-6651)gtG>gtT p.V2217V SPTA1_ENST00000368147.3_Silent_p.V2214V NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 2217 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) CCCCCAGGTCCACAATCTTGG 0.493000 34 289 9.65963e-10 1.28176e-09 0.183431 1 0 LRP2 4036 broad.mit.edu 37 2 170042168 170042168 + Silent SNP C C A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr2:170042168C>A ENST00000263816.3 - 50 9975 c.9690G>T c.(9688-9690)gtG>gtT p.V3230V NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 3230 hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) AATCTAATGCCACAACATTGT 0.368000 12 81 3.35478e-16 4.66066e-16 0.132662 1 0 TNR 7143 broad.mit.edu 37 1 175360456 175360456 + Missense_Mutation SNP C C A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr1:175360456C>A ENST00000367674.1 - 7 2183 c.1475G>T c.(1474-1476)cGc>cTc p.R492L TNR_ENST00000263525.2_Missense_Mutation_p.R492L NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 492 Fibronectin type-III 2. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix p.R492H(1) 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) AGGGGGGCTGCGGGCCTGTTC 0.547000 13 27 6.31663e-08 8.04641e-08 0.132662 1 0 SLCO1B1 10599 broad.mit.edu 37 12 21350115 21350115 + Silent SNP T T C TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr12:21350115T>C ENST00000256958.2 + 8 1059 c.963T>C c.(961-963)aaT>aaC p.N321N NM_006446.4 NP_006437.3 Q9Y6L6 SO1B1_HUMAN solute carrier organic anion transporter family, member 1B1 321 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|integral to plasma membrane|membrane fraction bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 70 Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175) TTACCAAAAATGTGACTGGTA 0.313000 6 27 0 0 0.248553 0 0 EHHADH 1962 broad.mit.edu 37 3 184910322 184910322 + Missense_Mutation SNP G G A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr3:184910322G>A ENST00000231887.3 - 7 1939 c.1864C>T c.(1864-1866)Cgc>Tgc p.R622C EHHADH_ENST00000456310.1_Missense_Mutation_p.R526C NM_001166415.1|NM_001966.3 NP_001159887.1|NP_001957.2 Q08426 ECHP_HUMAN enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase 622 peroxisome 3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3) 24 all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247) Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21) NADH(DB00157) TATAAGCAGCGTTCAAGGATC 0.428000 9 85 0 0 0.080935 0 0 XIST 7503 broad.mit.edu 37 X 73070963 73070963 + RNA SNP T T C TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chrX:73070963T>C ENST00000429829.1 - 0 1625 NR_001564.2 CCATTTCTAATTGGTTGGGTT 0.498000 21 35 0 0 0.234183 0 0 WDR7 23335 broad.mit.edu 37 18 54605764 54605764 + Splice_Site SNP G G T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr18:54605764G>T ENST00000254442.3 + 24 4043 c.3831_splice c.e24-1 p.V1278_splice WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Splice_Site_p.V1245_splice NM_015285.2 NP_056100.2 Q9Y4E6 WDR7_HUMAN WD repeat domain 7 1278 NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 78 Lung(128;0.0238)|Colorectal(16;0.0296) TGTTTTGTAGGTACACAGACA 0.343000 3 40 0.004672 0.00505015 0.115264 1 0 WDR76 79968 broad.mit.edu 37 15 44158515 44158515 + Silent SNP C C T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr15:44158515C>T ENST00000263795.6 + 13 1876 c.1806C>T c.(1804-1806)caC>caT p.H602H WDR76_ENST00000381246.2_Silent_p.H538H|WDR76_ENST00000478130.1_3'UTR NM_001167941.1|NM_024908.3 NP_001161413.1|NP_079184.2 Q9H967 WDR76_HUMAN WD repeat domain 76 602 breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2) 20 all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417) all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07) ATGCCATGCACCCAACTCGGT 0.433000 4 34 0 0 0.150653 0 0 MAGEC2 51438 broad.mit.edu 37 X 141290890 141290890 + Missense_Mutation SNP G G A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chrX:141290890G>A ENST00000247452.3 - 3 1231 c.884C>T c.(883-885)cCa>cTa p.P295L NM_016249.3 NP_057333.1 Q9UBF1 MAGC2_HUMAN melanoma antigen family C, 2 295 MAGE. cytoplasm|nucleus p.P295L(1) NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3) 47 Acute lymphoblastic leukemia(192;6.56e-05) TTCATAATATGGAGGAGAACT 0.498000 HNSCC(46;0.14) 40 106 0 0 0.139131 0 0 GPR98 84059 broad.mit.edu 37 5 90002055 90002055 + Missense_Mutation SNP C C G TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr5:90002055C>G ENST00000405460.2 + 38 8670 c.8574C>G c.(8572-8574)atC>atG p.I2858M NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 2858 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TAGGAGCTATCAATGTCACAT 0.363000 11 46 0 0 0.105934 0 0 ADAMDEC1 27299 broad.mit.edu 37 8 24250788 24250788 + Missense_Mutation SNP C C A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr8:24250788C>A ENST00000256412.4 + 3 441 c.221C>A c.(220-222)cCt>cAt p.P74H ADAMDEC1_ENST00000522298.1_5'UTR|RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000538205.1_5'UTR|RP11-624C23.1_ENST00000519689.1_RNA NM_014479.3 NP_055294.1 O15204 ADEC1_HUMAN ADAM-like, decysin 1 74 integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis extracellular region|integral to membrane integrin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1) 9 Prostate(55;0.0181) Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168) AGGTATGAACCTGAAGTTCAA 0.284000 5 24 5.9392e-07 7.36176e-07 0.217242 1 0 PHF3 23469 broad.mit.edu 37 6 64422420 64422420 + Missense_Mutation SNP A A G TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr6:64422420A>G ENST00000262043.3 + 16 5276 c.4936A>G c.(4936-4938)Atc>Gtc p.I1646V PHF3_ENST00000393387.1_Missense_Mutation_p.I1646V Q92576 PHF3_HUMAN PHD finger protein 3 1646 multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6) 75 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) TCCACAGTTTATCAACCTGAA 0.428000 15 27 0 0 0.132662 0 0 PRDM1 639 broad.mit.edu 37 6 106555120 106555120 + Missense_Mutation SNP A A T rs76571405 TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr6:106555120A>T ENST00000369096.4 + 7 2471 c.2237A>T c.(2236-2238)gAg>gTg p.E746V PRDM1_ENST00000369089.3_Missense_Mutation_p.E612V|PRDM1_ENST00000369091.2_Missense_Mutation_p.E710V NM_001198.3 NP_001189.2 O75626 PRDM1_HUMAN PR domain containing 1, with ZNF domain 746 negative regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2) 94 Breast(9;0.022) all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365) all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05) GAGGACGTGGAGGATGACATC 0.502000 """D, N, Mis, F, S""" DLBCL 6 115 0 0 0.217242 0 0 ALG10B 144245 broad.mit.edu 37 12 38714474 38714474 + Missense_Mutation SNP T T G TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr12:38714474T>G ENST00000308742.4 + 3 1197 c.881T>G c.(880-882)tTt>tGt p.F294C ALG10B_ENST00000551464.1_Intron NM_001013620.3 NP_001013642.1 Q5I7T1 AG10B_HUMAN ALG10B, alpha-1,2-glucosyltransferase 294 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane|plasma membrane dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1) 25 Esophageal squamous(101;0.187) Lung NSC(34;0.204)|all_lung(34;0.235) CTATTCTACTTTTTTTCATTT 0.343000 7 115 0 0 0.058154 0 0 KIAA0754 643314 broad.mit.edu 37 1 39879036 39879037 + Frame_Shift_Ins INS - - C TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr1:39879036_39879037insC ENST00000530275.1 + 1 2886_2887 c.2691_2692insC c.(2689-2694)gtccccfs p.VP897fs MACF1_ENST00000289893.4_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000539005.1_Intron NM_015038.1 NP_055853.1 O94854 K0754_HUMAN KIAA0754 897 Ala-rich. p.E901fs*190(1) central_nervous_system(1)|large_intestine(6)|skin(1) 8 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) CTGCTGCAGTGCCCCCCCCAGA 0.728 2 4 --- --- --- --- RP11-191G24.1 0 broad.mit.edu 37 1 51999517 51999517 + RNA DEL C C - rs34571962 TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr1:51999517delC ENST00000426017.1 + 0 64 RP11-191G24.1_ENST00000415031.1_RNA ttttttctttctttttttttt 0.353 3 6 --- --- --- --- RP11-147G16.1 0 broad.mit.edu 37 1 82684119 82684120 + RNA INS - - A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr1:82684119_82684120insA ENST00000420549.1 - 0 118 TGAAGGAAAAGAAAAAAAAATG 0.356 2 4 --- --- --- --- PKN2-AS1 101927891 broad.mit.edu 37 1 89032679 89032679 + RNA DEL A A - TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr1:89032679delA ENST00000458097.1 - 0 250 RP11-76N22.2_ENST00000425750.2_RNA ATTAAAGGATAAACATTAGCA 0.383 2 4 --- --- --- --- SRGAP2-AS1 100873165 broad.mit.edu 37 1 121134091 121134091 + RNA DEL G G - TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr1:121134091delG ENST00000437515.1 - 0 329 RP11-343N15.5_ENST00000602412.1_lincRNA tattctagaaGGATAAATTAT 0.333 2 4 --- --- --- --- LOC101927209 101927209 broad.mit.edu 37 1 142672992 142672993 + RNA INS - - C TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr1:142672992_142672993insC ENST00000369381.2 - 0 2507 CCTGctgaccaccccccactaa 0.520 3 4 --- --- --- --- PDE4DIP 9659 broad.mit.edu 37 1 145014185 145014185 + Frame_Shift_Del DEL T T - TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr1:145014185delT ENST00000493130.2 - 4 518 c.357delA c.(355-357)tcfs p.S119fs PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369348.3_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000530740.1_Intron Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 0 cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) ATCCAAAAGGTGAAAAAAAAA 0.512 T PDGFRB MPD 3 5 --- --- --- --- LOC645166 645166 broad.mit.edu 37 1 148944038 148944038 + RNA DEL A A - rs76811044 TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr1:148944038delA ENST00000539543.1 + 0 254 NR_027355.1 tccacctcagaaaaaaaaaaa 0.483 3 3 --- --- --- --- FLG-AS1 339400 broad.mit.edu 37 1 152145708 152145709 + RNA INS - - G TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr1:152145708_152145709insG ENST00000593011.1 + 0 296 CTGATCTGGGTGGGGGGGGCAC 0.505 3 5 --- --- --- --- KIRREL 55243 broad.mit.edu 37 1 158061152 158061152 + Frame_Shift_Del DEL G G - TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr1:158061152delG ENST00000368172.1 + 7 731 c.719delG c.(718-720)tgfs p.W240fs KIRREL_ENST00000360089.4_Frame_Shift_Del_p.W262fs|KIRREL_ENST00000368173.3_Frame_Shift_Del_p.W442fs|KIRREL_ENST00000416935.2_Frame_Shift_Del_p.W326fs|KIRREL_ENST00000359209.6_Frame_Shift_Del_p.W426fs|KIRREL_ENST00000392272.2_Frame_Shift_Del_p.W323fs Q96J84 KIRR1_HUMAN kin of IRRE like (Drosophila) 426 Ig-like C2-type 3. integral to membrane NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1) 38 all_hematologic(112;0.0378) CCACAGGCATGGGCCTGGAAG 0.602 9 92 --- --- --- --- RP1-15D23.2 0 broad.mit.edu 37 1 172803958 172803959 + RNA INS - - AG rs140819890 by1000genomes TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr1:172803958_172803959insAG ENST00000432694.1 + 0 223 tggggaagcacagtcagtcagg 0.540 2 4 --- --- --- --- RP1-35C21.2 0 broad.mit.edu 37 1 177426408 177426411 + RNA DEL ATCT ATCT - rs58942299 TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr1:177426408_177426411delATCT ENST00000438575.1 - 0 296 gtttgccacaatctatctttcaag 0.422 3 4 --- --- --- --- LINC01344 400799 broad.mit.edu 37 1 182203484 182203487 + RNA DEL AAAC AAAC - rs71958642 TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr1:182203484_182203487delAAAC ENST00000449842.1 - 0 410 ctccttctcaaaacaaacaaacaa 0.436 4 3 --- --- --- --- LINC01344 400799 broad.mit.edu 37 1 182263544 182263544 + RNA DEL C C - TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr1:182263544delC ENST00000449842.1 - 0 410 CTTCAAGCCACCTCCAAAgag 0.498 2 4 --- --- --- --- LINC01036 104169671 broad.mit.edu 37 1 187161183 187161184 + RNA DEL CA CA - rs35868117 TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr1:187161183_187161184delCA ENST00000458683.1 + 0 105 gctttctcaccacacacacaca 0.317 2 4 --- --- --- --- LINC01036 104169671 broad.mit.edu 37 1 187208297 187208298 + RNA INS - - G TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr1:187208297_187208298insG ENST00000458683.1 + 0 105 GAGGGTGTGGTGGGGGGGTGCC 0.396 2 4 --- --- --- --- RP11-373J16.1 0 broad.mit.edu 37 1 188986729 188986729 + RNA DEL G G - TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr1:188986729delG ENST00000445072.1 + 0 239 tttccagtttgccagtctgtc 0.418 2 4 --- --- --- --- LINC01031 101929184 broad.mit.edu 37 1 193300513 193300513 + RNA DEL C C - TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr1:193300513delC ENST00000420807.1 + 0 194 gtgtgtgccaccatgcccggc 0.532 2 4 --- --- --- --- RP11-134G8.7 0 broad.mit.edu 37 1 201499898 201499899 + RNA INS - - T rs140738054 by1000genomes TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr1:201499898_201499899insT ENST00000454651.1 + 0 179 CTCAGTCTGGGTTTACTGTAAT 0.475 OREG0014084 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 2 4 --- --- --- --- RP11-815M8.1 0 broad.mit.edu 37 1 222078776 222078778 + RNA DEL AAC AAC - TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr1:222078776_222078778delAAC ENST00000433576.1 - 0 327 ATCCATATATAACAACAACAAAA 0.399 2 4 --- --- --- --- LINC00276 100499171 broad.mit.edu 37 2 14409419 14409420 + RNA INS - - T rs71398685 TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr2:14409419_14409420insT ENST00000418420.1 - 0 251 NR_103814.1 aatcctttatcttttttttttt 0.381 4 1 --- --- --- --- LINC00276 100499171 broad.mit.edu 37 2 14519059 14519060 + RNA INS - - A rs149607590 TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr2:14519059_14519060insA ENST00000418420.1 - 0 116 NR_103814.1 gactctgtctcaaaaaaaaaaC 0.460 3 5 --- --- --- --- AC068490.2 0 broad.mit.edu 37 2 22503423 22503424 + RNA INS - - TAG rs5829828 by1000genomes TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr2:22503423_22503424insTAG ENST00000450551.1 - 0 70 GTTCTCTAGTTtgtgtgtgtgt 0.347 4 2 --- --- --- --- LINC00486 285045 broad.mit.edu 37 2 33132898 33132899 + RNA DEL TG TG - TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr2:33132898_33132899delTG ENST00000414054.1 + 0 453 NR_027098.1 tatgtggccttgtgtgtgtgtg 0.411 2 4 --- --- --- --- AC073218.1 0 broad.mit.edu 37 2 34680513 34680513 + RNA DEL T T - TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr2:34680513delT ENST00000422558.1 + 0 475 cttttttaacttttttttgtc 0.289 2 4 --- --- --- --- LOC730100 730100 broad.mit.edu 37 2 52100715 52100716 + RNA INS - - AC rs72383151 by1000genomes TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr2:52100715_52100716insAC ENST00000440698.1 + 0 879 atgaaatacatacacacacaca 0.401 2 4 --- --- --- --- LOC730100 730100 broad.mit.edu 37 2 52454733 52454734 + RNA DEL CA CA - TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr2:52454733_52454734delCA ENST00000440698.1 + 0 879 cgcacacacgcacacacacaca 0.381 3 3 --- --- --- --- AC010967.2 0 broad.mit.edu 37 2 52952752 52952752 + RNA DEL A A - rs35572508 TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr2:52952752delA ENST00000421575.1 - 0 302 AATGACTTGGAAAAAAAAAAA 0.323 2 4 --- --- --- --- RP11-481J13.1 0 broad.mit.edu 37 2 56360161 56360162 + RNA INS - - T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr2:56360161_56360162insT ENST00000606639.1 + 0 159 AGATCTAAttcttttttttttt 0.465 2 4 --- --- --- --- LINC01122 400955 broad.mit.edu 37 2 58832453 58832454 + RNA INS - - T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr2:58832453_58832454insT ENST00000452840.1 + 0 195 TACCTCCACCATTTTTTTTGGC 0.396 3 6 --- --- --- --- LINC01122 400955 broad.mit.edu 37 2 59082182 59082183 + RNA INS - - A rs140151055 by1000genomes TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr2:59082182_59082183insA ENST00000452840.1 + 0 434 ataaatgtatcgggggaaaaag 0.337 4 4 --- --- --- --- RP11-444A22.1 0 broad.mit.edu 37 2 59841574 59841575 + RNA INS - - G rs112426093 by1000genomes TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr2:59841574_59841575insG ENST00000606382.1 - 0 236 ctagatacaatgggggtacagg 0.450 2 4 --- --- --- --- AC023115.2 0 broad.mit.edu 37 2 67338503 67338503 + RNA DEL C C - TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr2:67338503delC ENST00000452716.1 + 0 110 AC023115.1_ENST00000594329.1_lincRNA ccaggtacctccctcaacacg 0.453 2 4 --- --- --- --- LOC644838 644838 broad.mit.edu 37 2 67421647 67421649 + RNA DEL TTC TTC - rs138275984 TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr2:67421647_67421649delTTC ENST00000433133.1 - 0 205 AC023115.2_ENST00000452716.1_lincRNA|AC023115.1_ENST00000594329.1_lincRNA NR_038844.1 tttctttttattcttttttctcc 0.399 3 6 --- --- --- --- ITPRIPL1 150771 broad.mit.edu 37 2 96992793 96992795 + In_Frame_Del DEL GAG GAG - TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr2:96992793_96992795delGAG ENST00000361124.4 + 1 859_861 c.448_450delGAG c.(448-450)del p.E155del ITPRIPL1_ENST00000536814.1_In_Frame_Del_p.E139del|ITPRIPL1_ENST00000542887.1_In_Frame_Del_p.E139del|ITPRIPL1_ENST00000439118.2_In_Frame_Del_p.E147del NM_178495.5 NP_848590.3 Q6GPH6 IPIL1_HUMAN inositol 1,4,5-trisphosphate receptor interacting protein-like 1 147 integral to membrane breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 TTCCAGCAGTGAGGAGGAGGAGG 0.532 7 72 --- --- --- --- AC073987.1 0 broad.mit.edu 37 2 103777481 103777481 + RNA DEL G G - TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr2:103777481delG ENST00000422683.1 - 0 213 TTTTAGCACAGGGGTCAGGGC 0.413 2 4 --- --- --- --- AC096669.2 0 broad.mit.edu 37 2 108117449 108117449 + RNA DEL T T - TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr2:108117449delT ENST00000414300.1 - 0 295 AGATCAACTATTTTCCATGGC 0.373 3 3 --- --- --- --- PGM5P3-AS1 101929127 broad.mit.edu 37 2 114294175 114294176 + RNA DEL AT AT - TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr2:114294175_114294176delAT ENST00000446595.1 - 0 90 CTCGTATGACATGTGGGGTTGC 0.446 4 4 --- --- --- --- AC097532.2 0 broad.mit.edu 37 2 133050244 133050245 + RNA DEL TG TG - rs8179688 TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr2:133050244_133050245delTG ENST00000440802.1 - 0 60 gttttctggctgtttttttttt 0.297 3 5 --- --- --- --- AC012501.2 0 broad.mit.edu 37 2 154419616 154419617 + RNA DEL TC TC - rs35691701 TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr2:154419616_154419617delTC ENST00000424322.1 - 0 429 atttgtgtaatctctgtttatt 0.277 3 6 --- --- --- --- AC012501.2 0 broad.mit.edu 37 2 154440827 154440827 + RNA DEL C C - TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr2:154440827delC ENST00000424322.1 - 0 429 caagacacagcacagtattca 0.517 2 4 --- --- --- --- LOC100131270 100131270 broad.mit.edu 37 2 159543400 159543400 + RNA DEL C C - TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr2:159543400delC ENST00000342892.4 - 0 275 AC005042.5_ENST00000449526.1_lincRNA|AC005042.4_ENST00000442666.1_RNA GGGAACATATCCAATTCTTCC 0.398 2 4 --- --- --- --- LOC101927865 101927865 broad.mit.edu 37 2 208083835 208083835 + RNA DEL T T - TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr2:208083835delT ENST00000435643.1 + 0 393 ATTTTGACACTTTTTTTTTTG 0.318 2 4 --- --- --- --- LINC00607 646324 broad.mit.edu 37 2 216559362 216559363 + RNA INS - - A rs59410509 by1000genomes TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr2:216559362_216559363insA ENST00000445174.1 - 0 723 AC012668.2_ENST00000417485.2_lincRNA NR_037195.1 acccagccttgaaaaaaaaaat 0.396 2 4 --- --- --- --- AC067956.1 0 broad.mit.edu 37 2 221351707 221351708 + RNA DEL AG AG - TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr2:221351707_221351708delAG ENST00000414512.1 + 0 368 agacagagacagagagagagag 0.436 3 5 --- --- --- --- LOC151484 151484 broad.mit.edu 37 2 231755961 231755962 + RNA INS - - A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr2:231755961_231755962insA ENST00000415628.1 + 0 424 AC012507.3_ENST00000455128.1_RNA|AC012507.3_ENST00000447074.1_RNA NR_038238.1 ctctaaaaaagaaaaaaaaaaa 0.500 2 4 --- --- --- --- AC026167.1 0 broad.mit.edu 37 3 6399542 6399542 + RNA DEL A A - rs11325381 TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr3:6399542delA ENST00000435651.1 + 0 95 GAGCAGTGTTAAAAAAAAAAA 0.383 2 4 --- --- --- --- LMCD1-AS1 100288428 broad.mit.edu 37 3 8090292 8090292 + RNA DEL T T - TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr3:8090292delT ENST00000446281.1 - 0 514 TTTTCTACGCttttttttttt 0.443 2 4 --- --- --- --- SATB1-AS1 101927777 broad.mit.edu 37 3 18555226 18555227 + RNA INS - - TA rs140664975 by1000genomes TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr3:18555226_18555227insTA ENST00000593741.1 + 0 234 AC144521.1_ENST00000596850.1_RNA|AC144521.1_ENST00000598740.1_RNA|AC144521.1_ENST00000414198.1_RNA|AC144521.1_ENST00000598498.1_RNA|AC144521.1_ENST00000595250.1_RNA|AC144521.1_ENST00000598688.1_RNA|AC144521.1_ENST00000596307.1_RNA|AC144521.1_ENST00000598390.1_RNA|AC144521.1_ENST00000596277.1_RNA|AC144521.1_ENST00000456253.2_RNA|AC144521.1_ENST00000595388.1_RNA|AC144521.1_ENST00000599762.1_RNA|AC144521.1_ENST00000595865.1_RNA|AC144521.1_ENST00000593444.1_RNA TTAGATTtatgtatatatatat 0.307 3 3 --- --- --- --- SATB1-AS1 101927777 broad.mit.edu 37 3 18933610 18933611 + RNA DEL CT CT - TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr3:18933610_18933611delCT ENST00000425799.2 + 0 463 ctctccctcgctctctctctct 0.465 3 6 --- --- --- --- AC018359.1 0 broad.mit.edu 37 3 34234065 34234065 + RNA DEL C C - TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr3:34234065delC ENST00000424786.1 + 0 159 ATGCCATCCTCCACAAATTGC 0.383 2 4 --- --- --- --- LINC00698 285401 broad.mit.edu 37 3 62984457 62984460 + RNA DEL AGAG AGAG - TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr3:62984457_62984460delAGAG ENST00000468072.1 + 0 125 NR_027104.1 ataaaaaggaagagagaaagctct 0.431 2 4 --- --- --- --- ADAMTS9-AS2 100507098 broad.mit.edu 37 3 64696627 64696627 + RNA DEL A A - rs35148462 TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr3:64696627delA ENST00000460833.1 + 0 430 ADAMTS9-AS2_ENST00000474768.1_RNA|ADAMTS9-AS2_ENST00000485174.1_RNA|ADAMTS9-AS2_ENST00000481312.1_RNA atgggacaataaaagtatcga 0.413 3 5 --- --- --- --- RP11-543A18.1 0 broad.mit.edu 37 3 65170347 65170348 + RNA INS - - T rs34474839 TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr3:65170347_65170348insT ENST00000481004.1 + 0 119 CATTTCTCTACTTTTTTTTTTT 0.322 2 4 --- --- --- --- CTD-2021J15.1 0 broad.mit.edu 37 3 98709381 98709381 + RNA DEL T T - rs62924960 TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr3:98709381delT ENST00000474798.1 + 0 196 GAATTTCTAATTTTTTTTTCA 0.348 4 2 --- --- --- --- RP11-174O3.3 0 broad.mit.edu 37 3 120083438 120083439 + RNA DEL AG AG - TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr3:120083438_120083439delAG ENST00000494869.1 + 0 219 aaactggaaaagagagagagag 0.436 2 4 --- --- --- --- TFP1 100129696 broad.mit.edu 37 3 133424119 133424119 + RNA DEL A A - rs56933033 TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr3:133424119delA ENST00000460564.1 + 0 381 actccatctcaaaaaaaaaaa 0.463 4 2 --- --- --- --- CLRN1-AS1 116933 broad.mit.edu 37 3 150750904 150750906 + RNA DEL AAC AAC - TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr3:150750904_150750906delAAC ENST00000476886.1 + 0 123 RP11-166N6.2_ENST00000469268.1_RNA|CLRN1-AS1_ENST00000465576.1_RNA CATGACAGTTAACAACATTTGGA 0.350 6 3 --- --- --- --- EGFEM1P 93556 broad.mit.edu 37 3 168543379 168543379 + RNA DEL T T - TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr3:168543379delT ENST00000483846.1 + 0 805 NR_021485.2 TAAGAACCTATTAGACTAGAA 0.363 2 4 --- --- --- --- GMNC 647309 broad.mit.edu 37 3 190573662 190573663 + Frame_Shift_Ins INS - - T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr3:190573662_190573663insT ENST00000442080.1 - 5 425_426 c.426_427insA c.(424-429)aatcagfs p.NQ142fs GMNC_ENST00000479491.1_5'UTR NM_001146686.2 NP_001140158.1 A6NCL1 GEMC1_HUMAN geminin coiled-coil domain containing 142 cell cycle|cell proliferation|DNA replication nucleus chromatin binding NS(1)|endometrium(3)|skin(1) 5 CCCTTCCTGAATTTTCCATATG 0.347 2 4 --- --- --- --- ANKRD18DP 348840 broad.mit.edu 37 3 197794331 197794331 + RNA DEL T T - TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr3:197794331delT ENST00000435620.2 - 0 921 NR_003291.1 TTGCTCCTCCTTTTCTAAAAC 0.413 2 4 --- --- --- --- LINC00504 201853 broad.mit.edu 37 4 14562319 14562319 + RNA DEL T T - TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr4:14562319delT ENST00000505089.1 - 0 461 GTCCTTTGTCTTTTTTCCACC 0.358 2 4 --- --- --- --- LOC101929095 101929095 broad.mit.edu 37 4 15175939 15175940 + RNA INS - - A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr4:15175939_15175940insA ENST00000502344.1 - 0 154 RP11-665G4.1_ENST00000513384.1_RNA ctgaccggcttaaaaaacggca 0.530 2 4 --- --- --- --- RP11-608O21.1 0 broad.mit.edu 37 4 19837705 19837706 + RNA INS - - T rs35369198 by1000genomes TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr4:19837705_19837706insT ENST00000511431.1 + 0 288 CTGCAGGATAGTTACTGGCGAA 0.386 6 3 --- --- --- --- LOC101929199 101929199 broad.mit.edu 37 4 27247857 27247859 + RNA DEL GCT GCT - rs76077112 TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr4:27247857_27247859delGCT ENST00000512873.1 + 0 360 gaattcctgagctcaagcaatcc 0.463 5 3 --- --- --- --- AC109351.1 0 broad.mit.edu 37 4 29751861 29751861 + RNA DEL A A - rs149531054 TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr4:29751861delA ENST00000390756.1 + 0 44 CTTGAGAAGGAAAAAAAAAAT 0.308 2 4 --- --- --- --- LOC101928622 101928622 broad.mit.edu 37 4 34031233 34031233 + RNA DEL A A - TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr4:34031233delA ENST00000505018.1 - 0 59 taggaatgctaaaatatgcag 0.328 2 4 --- --- --- --- RP11-63A11.1 0 broad.mit.edu 37 4 42383458 42383458 + RNA DEL C C - TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr4:42383458delC ENST00000503321.1 - 0 59 RP11-63A11.1_ENST00000508911.1_RNA|RP11-63A11.1_ENST00000515392.1_RNA tgaatttagtcggtgaaagag 0.438 2 4 --- --- --- --- LINC00989 100506035 broad.mit.edu 37 4 80417221 80417221 + RNA DEL T T - TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr4:80417221delT ENST00000508174.1 + 0 642 GTTAAAAATCTTTTTTGCTAT 0.289 2 4 --- --- --- --- RP11-742B18.1 0 broad.mit.edu 37 4 88600201 88600232 + RNA DEL TTACTTAATTACTTGTCCATCTTTCTTCTCTT TTACTTAATTACTTGTCCATCTTTCTTCTCTT - TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr4:88600201_88600232delTTACTTAATTACTTGTCCATCTTTCTTCTCTT ENST00000506480.1 - 0 187 GTATCATACATTACTTAATTACTTGTCCATCTTTCTTCTCTTTTTTTTTGGT 0.280 3 4 --- --- --- --- RP11-554D13.1 0 broad.mit.edu 37 4 95599799 95599802 + RNA DEL AACT AACT - rs58963931 TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr4:95599799_95599802delAACT ENST00000514304.1 + 0 94 AACTAGAATAAACTAACTAGCAAC 0.377 3 4 --- --- --- --- ADH1C 126 broad.mit.edu 37 4 100261040 100261041 + RNA INS - - A rs138827617 by1000genomes TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr4:100261040_100261041insA ENST00000515683.1 - 0 1316 NM_000669.3 NP_000660.1 P00326 ADH1G_HUMAN alcohol dehydrogenase 1C (class I), gamma polypeptide ethanol oxidation|xenobiotic metabolic process cytosol alcohol dehydrogenase (NAD) activity|zinc ion binding OV - Ovarian serous cystadenocarcinoma(123;1.08e-07) Fomepizole(DB01213)|NADH(DB00157) AGTGCTTTCACAAAAAAAATCA 0.327 4 2 --- --- --- --- LOC101929468 101929468 broad.mit.edu 37 4 105466079 105466080 + RNA INS - - T rs151288430 by1000genomes TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr4:105466079_105466080insT ENST00000500179.1 + 0 96 gcgtttttttgtttttttttgt 0.356 2 4 --- --- --- --- LOC101929468 101929468 broad.mit.edu 37 4 105550748 105550749 + RNA INS - - G TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr4:105550748_105550749insG ENST00000500179.1 + 0 96 ggatcccagaagggggcaaatt 0.416 2 4 --- --- --- --- RP11-556I14.2 0 broad.mit.edu 37 4 105823164 105823164 + RNA DEL T T - rs76592144 TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr4:105823164delT ENST00000515127.1 - 0 366 TTAAAGGAGCTTTTTTTTTTT 0.368 2 4 --- --- --- --- CTD-2325B11.1 0 broad.mit.edu 37 4 125133310 125133311 + RNA INS - - A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr4:125133310_125133311insA ENST00000507299.1 - 0 53 ccatctcagttaaaaaaaaaTA 0.436 2 4 --- --- --- --- CTD-2012I17.1 0 broad.mit.edu 37 4 135721771 135721772 + RNA DEL GA GA - TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr4:135721771_135721772delGA ENST00000504882.1 + 0 344 aacatgaggggagagagagaga 0.312 2 4 --- --- --- --- RP11-284M14.1 0 broad.mit.edu 37 4 144074432 144074432 + RNA DEL T T - TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr4:144074432delT ENST00000507826.1 - 0 354 actcctgctcttttttttttt 0.333 2 4 --- --- --- --- FAT1 2195 broad.mit.edu 37 4 187542211 187542211 + Frame_Shift_Del DEL A A - TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr4:187542211delA ENST00000441802.2 - 10 5738 c.5529delT c.(5527-5529)ttfs p.F1843fs NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 1843 Cadherin 16. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 CGGTAAAGTGAAAAATACTTG 0.393 HNSCC(5;0.00058) 20 38 --- --- --- --- RP11-419C19.2 0 broad.mit.edu 37 5 13007891 13007891 + RNA DEL T T - TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr5:13007891delT ENST00000510065.1 - 0 166 gctcaaaccattttttttgag 0.373 2 4 --- --- --- --- LOC102723526 102723526 broad.mit.edu 37 5 17454412 17454427 + RNA DEL GAAAGCAAAGCTCAGG GAAAGCAAAGCTCAGG - rs144669763 TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr5:17454412_17454427delGAAAGCAAAGCTCAGG ENST00000504998.1 + 0 225 AGAAAACTGAGAAAGCAAAGCTCAGGGAAAGCAAAG 0.421 2 4 --- --- --- --- GUSBP1 728411 broad.mit.edu 37 5 21534245 21534246 + RNA INS - - TG rs143137704 TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr5:21534245_21534246insTG ENST00000607545.1 + 0 314 NR_027026.1 GCAGGTGTGTCTGTCACAAACA 0.520 3 6 --- --- --- --- GUSBP1 728411 broad.mit.edu 37 5 21539903 21539903 + RNA DEL A A - rs5866503 TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr5:21539903delA ENST00000607545.1 + 0 314 NR_027026.1 ttctcacagcaaaaaaagata 0.294 6 3 --- --- --- --- CTC-261N6.1 0 broad.mit.edu 37 5 85655999 85656000 + RNA INS - - AT TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr5:85655999_85656000insAT ENST00000511940.1 + 0 277 GAGGCAAAAAAATCAATATCAA 0.307 2 4 --- --- --- --- RP11-114J13.1 0 broad.mit.edu 37 5 125425909 125425909 + RNA DEL A A - TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr5:125425909delA ENST00000450613.2 - 0 226 gtcgcaacccaaaatctcctt 0.343 2 4 --- --- --- --- GS1-39E22.2 0 broad.mit.edu 37 5 135233346 135233347 + RNA INS - - T rs141923033 by1000genomes TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr5:135233346_135233347insT ENST00000522973.1 + 0 21_22 TGGCAATACTGTTTTTTTTCAT 0.426 3 6 --- --- --- --- CTB-57H20.1 0 broad.mit.edu 37 5 143037431 143037432 + RNA INS - - A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr5:143037431_143037432insA ENST00000503323.1 + 0 104 GTGACTTCCCCAAAAACATGTA 0.411 2 4 --- --- --- --- LOC101927115 101927115 broad.mit.edu 37 5 151465274 151465275 + RNA INS - - T rs72571539 TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr5:151465274_151465275insT ENST00000524295.1 + 0 199 GCAGTCTGCCCTTTTTTTTTTT 0.480 5 4 --- --- --- --- RP11-167P20.1 0 broad.mit.edu 37 5 162034276 162034277 + RNA DEL AT AT - TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr5:162034276_162034277delAT ENST00000517722.1 - 0 127 AGTTAGTTGCATGTGGTAGATT 0.332 2 4 --- --- --- --- RP11-541P9.3 0 broad.mit.edu 37 5 162573485 162573485 + RNA DEL C C - TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr5:162573485delC ENST00000509211.1 - 0 117 RP11-541P9.3_ENST00000458002.2_RNA cccagtgagaccaacgcagaa 0.473 2 4 --- --- --- --- RP11-428J1.4 0 broad.mit.edu 37 6 5052602 5052603 + RNA INS - - G TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr6:5052602_5052603insG ENST00000606227.1 - 0 346 aatagctgaaagggggtaggag 0.322 2 4 --- --- --- --- LOC101929006 101929006 broad.mit.edu 37 6 29205459 29205460 + RNA INS - - T rs9280569 by1000genomes TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr6:29205459_29205460insT ENST00000441381.1 + 0 79 tagccatactgtttccacattg 0.376 5 1 --- --- --- --- LOC101929006 101929006 broad.mit.edu 37 6 29228332 29228332 + RNA DEL C C - rs144062472 TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr6:29228332delC ENST00000441381.1 + 0 79 TGGTAGGTTACCCAAATATTG 0.413 8 3 --- --- --- --- RP3-331H24.5 0 broad.mit.edu 37 6 72045666 72045666 + RNA DEL A A - TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr6:72045666delA ENST00000602823.1 - 0 267 AGAAAACAGCAAATACCAAAG 0.343 2 4 --- --- --- --- UFL1-AS1 100861530 broad.mit.edu 37 6 96893358 96893358 + RNA DEL T T - TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr6:96893358delT ENST00000430796.1 - 0 110 TGGTTGTTGGttttttttttt 0.373 3 3 --- --- --- --- RP3-399L15.2 0 broad.mit.edu 37 6 114850939 114850940 + RNA INS - - T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr6:114850939_114850940insT ENST00000435802.1 - 0 160 gatgtttagcattttttcagat 0.342 2 4 --- --- --- --- LOC153910 153910 broad.mit.edu 37 6 142857046 142857047 + RNA INS - - T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr6:142857046_142857047insT ENST00000447311.1 - 0 364 NR_027312.1 AGGACACACCATTTTTTTTCAC 0.411 2 4 --- --- --- --- LOC153910 153910 broad.mit.edu 37 6 142935439 142935439 + RNA DEL T T - TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr6:142935439delT ENST00000447311.1 - 0 177 NR_027312.1 tgcagcctcctcaGGTGCTCA 0.507 2 4 --- --- --- --- RAET1E-AS1 100652739 broad.mit.edu 37 6 150225575 150225575 + RNA DEL C C - TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr6:150225575delC ENST00000606915.1 + 0 889 RP11-244K5.1_ENST00000446954.1_RNA|RP11-244K5.1_ENST00000605899.1_RNA NR_045126.1 GGATGACATTCCCCCAGGTGA 0.552 2 4 --- --- --- --- RP1-111C20.4 0 broad.mit.edu 37 6 159424700 159424700 + RNA DEL T T - TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr6:159424700delT ENST00000607391.1 + 0 236 RP1-111C20.4_ENST00000607796.1_RNA|RP1-111C20.4_ENST00000606470.1_RNA gggctgatcattttctagttt 0.468 2 4 --- --- --- --- RP11-503C24.2 0 broad.mit.edu 37 6 168626579 168626581 + RNA DEL CCT CCT - rs36227106 TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr6:168626579_168626581delCCT ENST00000424343.1 - 0 209 tcctcctccccctcctcctcctt 0.581 2 4 --- --- --- --- AC073316.1 0 broad.mit.edu 37 7 3326743 3326743 + RNA DEL C C - TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr7:3326743delC ENST00000437354.1 - 0 224 gttgcccctacccccccttgc 0.502 2 4 --- --- --- --- AC004538.3 0 broad.mit.edu 37 7 11402095 11402096 + RNA DEL AC AC - TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr7:11402095_11402096delAC ENST00000421121.1 + 0 113 AC004538.3_ENST00000599875.1_RNA|AC004538.3_ENST00000428967.1_RNA|AC004538.3_ENST00000445839.1_RNA ctaagattgaacaCACACACAC 0.292 2 4 --- --- --- --- FAM126A 84668 broad.mit.edu 37 7 22944489 22944490 + RNA INS - - A rs72005665 TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr7:22944489_22944490insA ENST00000421730.1 - 0 137 gactttgtctcaaaaaaaaaaa 0.450 4 5 --- --- --- --- LINC01446 401337 broad.mit.edu 37 7 53812092 53812093 + RNA INS - - A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr7:53812092_53812093insA ENST00000380970.2 - 0 1381 NR_038371.1 tgggtgaccccactcactcaca 0.550 6 2 --- --- --- --- AC003991.3 0 broad.mit.edu 37 7 87905415 87905415 + RNA DEL T T - TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr7:87905415delT ENST00000600908.1 + 0 93 AC003991.3_ENST00000595121.1_RNA|AC003991.3_ENST00000447758.1_RNA|AC003991.3_ENST00000594469.1_RNA aaggaaagccttttttacctc 0.488 3 3 --- --- --- --- AZGP1P1 646282 broad.mit.edu 37 7 99581178 99581179 + RNA INS - - C TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr7:99581178_99581179insC ENST00000425474.1 + 0 499_500 NR_036679.1 TCCGCATCCCACCCCCCCCACA 0.579 4 7 --- --- --- --- C7orf13 129790 broad.mit.edu 37 7 156268628 156268628 + RNA DEL C C - TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr7:156268628delC ENST00000447933.1 - 0 300 gccagccctgcctccacccca 0.562 2 4 --- --- --- --- AC100802.3 0 broad.mit.edu 37 8 19947176 19947176 + RNA DEL T T - TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr8:19947176delT ENST00000519197.1 + 0 218 aatctacCAAttttttttttt 0.428 3 6 --- --- --- --- RP11-624C23.1 0 broad.mit.edu 37 8 24452271 24452271 + RNA DEL T T - TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr8:24452271delT ENST00000519689.1 - 0 184 CATGATGATATTTTTTTTCCT 0.378 2 4 --- --- --- --- RP11-566H8.3 0 broad.mit.edu 37 8 31228941 31228942 + RNA INS - - C TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr8:31228941_31228942insC ENST00000524022.1 + 0 213 aggtagtccttcccccttgctt 0.406 2 4 --- --- --- --- RP11-962G15.1 0 broad.mit.edu 37 8 36444679 36444680 + RNA DEL AG AG - TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr8:36444679_36444680delAG ENST00000524132.1 - 0 484 agagaggggaagagagagagag 0.455 2 4 --- --- --- --- RP11-758M4.4 0 broad.mit.edu 37 8 75711236 75711238 + RNA DEL TTG TTG - rs112128689 TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr8:75711236_75711238delTTG ENST00000523860.1 - 0 553_555 GAAAGtgtttttgttgttgttgt 0.394 2 4 --- --- --- --- RP11-354A14.1 0 broad.mit.edu 37 8 82812974 82812974 + RNA DEL G G - rs78896556 TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr8:82812974delG ENST00000534675.1 + 0 64 aggaaggaaaggagttgttgt 0.408 3 3 --- --- --- --- RP11-386D6.2 0 broad.mit.edu 37 8 87798145 87798145 + RNA DEL G G - rs34991054 TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr8:87798145delG ENST00000520649.1 + 0 449 ttttgggcttgtctggggtac 0.453 4 2 --- --- --- --- LINC00534 100874052 broad.mit.edu 37 8 91331458 91331458 + RNA DEL T T - TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr8:91331458delT ENST00000523406.1 + 0 300 NR_051989.1 CTAAGAGGCGTTACAGCAAAG 0.393 2 4 --- --- --- --- LINC00536 100859921 broad.mit.edu 37 8 117022373 117022373 + RNA DEL T T - TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr8:117022373delT ENST00000505156.2 - 0 1558 NR_046215.1 CTTACCATAGTTTTATGATCA 0.308 2 4 --- --- --- --- RP11-785H20.1 0 broad.mit.edu 37 8 122900531 122900532 + RNA DEL AG AG - rs143727205 TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr8:122900531_122900532delAG ENST00000523550.1 + 0 161 ttgtccatgaagagagatagga 0.371 4 2 --- --- --- --- RP11-398G24.2 0 broad.mit.edu 37 8 123005141 123005142 + RNA INS - - T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr8:123005141_123005142insT ENST00000523792.1 - 0 160 CAATTCCCCCCCAATTCTAGAA 0.337 2 4 --- --- --- --- FER1L6-AS2 157376 broad.mit.edu 37 8 125157641 125157641 + RNA DEL C C - rs36045593 TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr8:125157641delC ENST00000520031.1 - 0 95 NR_103547.1 AATACCCATTCCCCCTCGCCT 0.458 4 3 --- --- --- --- CASC8 727677 broad.mit.edu 37 8 128336140 128336141 + RNA INS - - C TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr8:128336140_128336141insC ENST00000502082.1 - 0 1176 CASC8_ENST00000523825.1_RNA|CASC8_ENST00000501396.1_RNA tggatgtttgtcccctccaaat 0.450 2 4 --- --- --- --- EEF1D 1936 broad.mit.edu 37 8 144663326 144663327 + Splice_Site INS - - G TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr8:144663326_144663327insG ENST00000532741.1 - 5 1766 c.e5-2 EEF1D_ENST00000317198.6_Splice_Site|EEF1D_ENST00000531621.1_Splice_Site|EEF1D_ENST00000526838.1_Splice_Site|EEF1D_ENST00000528610.1_Splice_Site|EEF1D_ENST00000395119.3_Splice_Site|EEF1D_ENST00000419152.2_Splice_Site|EEF1D_ENST00000524624.1_Splice_Site|EEF1D_ENST00000529272.1_Splice_Site|EEF1D_ENST00000442189.2_Splice_Site|EEF1D_ENST00000423316.2_Splice_Site|EEF1D_ENST00000532400.1_Intron P29692 EF1D_HUMAN eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein) positive regulation of I-kappaB kinase/NF-kappaB cascade cytosol|eukaryotic translation elongation factor 1 complex protein binding|signal transducer activity|translation elongation factor activity breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239) CCTGTACCACTGGGGGGGCAAG 0.693 4 7 --- --- --- --- RP11-764K9.1 0 broad.mit.edu 37 9 68407616 68407616 + RNA DEL A A - TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr9:68407616delA ENST00000417843.2 - 0 67 tggatcaagcagaagaaatag 0.343 3 3 --- --- --- --- LOC101928438 101928438 broad.mit.edu 37 9 102371817 102371818 + RNA INS - - T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr9:102371817_102371818insT ENST00000427039.1 - 0 319 ctgggctatgctttttatgtgt 0.436 2 4 --- --- --- --- LINC00587 414319 broad.mit.edu 37 9 105304091 105304094 + RNA DEL TTTC TTTC - TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr9:105304091_105304094delTTTC ENST00000374801.3 + 0 73 NR_103830.1 aaaatgcctttttctttatctctg 0.397 5 1 --- --- --- --- RP11-202G18.1 0 broad.mit.edu 37 9 114015015 114015016 + RNA INS - - T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr9:114015015_114015016insT ENST00000426204.1 - 0 370 ctttaaacctctttttcttata 0.416 2 4 --- --- --- --- RP11-69C17.4 0 broad.mit.edu 37 10 2212600 2212600 + RNA DEL C C - TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr10:2212600delC ENST00000418524.2 - 0 474 TTCTTGTCTTCCCCCCTTTTA 0.398 2 4 --- --- --- --- TMEM72-AS1 220980 broad.mit.edu 37 10 45404304 45404304 + RNA DEL G G - TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr10:45404304delG ENST00000450287.2 - 0 244 RP11-285G1.2_ENST00000436877.2_RNA NR_033842.1 AAAAGGACGTGGGGAGAGCAC 0.512 2 4 --- --- --- --- LOC101926942 101926942 broad.mit.edu 37 10 92240754 92240755 + RNA INS - - A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr10:92240754_92240755insA ENST00000422206.1 + 0 146 RP11-15K3.1_ENST00000418379.1_lincRNA tctatacaaacaaaaatgaaca 0.351 2 4 --- --- --- --- RP11-381K7.1 0 broad.mit.edu 37 10 113111165 113111165 + RNA DEL A A - TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr10:113111165delA ENST00000421597.1 - 0 167 atagtaaactaaggctcagag 0.393 2 4 --- --- --- --- LOC100506082 100506082 broad.mit.edu 37 11 4209890 4209891 + RNA INS - - G TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr11:4209890_4209891insG ENST00000525365.1 + 0 65 NR_047550.1 cataggaatttgggggggcaca 0.525 2 4 --- --- --- --- RP11-222N13.1 0 broad.mit.edu 37 11 15939590 15939590 + RNA DEL A A - rs75082724 TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr11:15939590delA ENST00000530418.1 + 0 217 TTTCAGGTGGAAAAAAAAAAT 0.408 2 4 --- --- --- --- OR7E14P 10819 broad.mit.edu 37 11 17045795 17045796 + RNA INS - - AC rs35808573 TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr11:17045795_17045796insAC ENST00000530490.1 + 0 370 CCCATACCCCAAAacacacaca 0.535 2 4 --- --- --- --- OR1S1 219959 broad.mit.edu 37 11 57982229 57982229 + Frame_Shift_Del DEL A A - rs1966836 byFrequency TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr11:57982229delA ENST00000309433.6 + 1 13 c.13delA c.(13-15)gtfs p.S6fs NM_001004458.1 NP_001004458.1 Q8NH92 OR1S1_HUMAN olfactory receptor, family 1, subfamily S, member 1 6 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3) 48 Breast(21;0.0589) GAAGACTTTTAGTTCCTTTCT 0.378 10 68 --- --- --- --- RP11-626H12.1 0 broad.mit.edu 37 11 69850399 69850400 + RNA INS - - GT rs35564666 by1000genomes TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr11:69850399_69850400insGT ENST00000534086.1 + 0 291 CATGAGAGAGAGTGTGTGCAAA 0.416 4 3 --- --- --- --- DISC1FP1 101929222 broad.mit.edu 37 11 90276147 90276152 + RNA DEL ACACAC ACACAC - rs141870455 TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr11:90276147_90276152delACACAC ENST00000562678.1 + 0 43 acacacacatacacacacacacacac 0.379 2 4 --- --- --- --- LINC00900 283143 broad.mit.edu 37 11 115629691 115629692 + RNA INS - - G TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr11:115629691_115629692insG ENST00000499809.1 - 0 165 AP000797.3_ENST00000539305.1_lincRNA NR_034148.1 GTGGGGGTGGCGGGGGGAGTCA 0.470 2 4 --- --- --- --- AP002954.4 0 broad.mit.edu 37 11 118611796 118611796 + RNA DEL G G - rs139990841 TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr11:118611796delG ENST00000526274.1 + 0 374 agcctacctagttgttgtcat 0.398 7 0 --- --- --- --- LINC00940 100271702 broad.mit.edu 37 12 2039083 2039084 + RNA DEL AG AG - TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr12:2039083_2039084delAG ENST00000418006.1 - 0 1633_1634 NR_036546.1 gggaggagtaagagggggagga 0.619 6 0 --- --- --- --- LOC100506314 100506314 broad.mit.edu 37 12 13105021 13105022 + RNA INS - - C TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr12:13105021_13105022insC ENST00000543515.2 + 0 46 RP11-392P7.6_ENST00000394742.3_RNA|RP11-392P7.6_ENST00000536029.1_RNA|RP11-392P7.6_ENST00000545914.1_RNA|RP11-392P7.6_ENST00000540198.1_RNA|RP11-392P7.6_ENST00000542078.1_RNA TGAGAACATGGCCCCCCAATTC 0.470 2 4 --- --- --- --- RP11-153K16.2 0 broad.mit.edu 37 12 23401563 23401564 + RNA INS - - A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr12:23401563_23401564insA ENST00000538297.1 - 0 39 CTAAATTCCCTAAAAATGTTCC 0.312 2 4 --- --- --- --- DDX11-AS1 100506660 broad.mit.edu 37 12 31212218 31212219 + RNA DEL AG AG - rs67354211 TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr12:31212218_31212219delAG ENST00000500527.1 - 0 764 DDX11-AS1_ENST00000535870.1_RNA NR_038927.1 gtgtctaaaaagagagagagaa 0.446 3 4 --- --- --- --- RP11-478B9.1 0 broad.mit.edu 37 12 45492497 45492498 + RNA INS - - A rs11397583 TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr12:45492497_45492498insA ENST00000548424.1 + 0 448 AAATTCTTACCAAAAAAAAAAA 0.356 6 2 --- --- --- --- RP11-324P9.1 0 broad.mit.edu 37 12 69606408 69606411 + RNA DEL TTTG TTTG - rs10591195 TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr12:69606408_69606411delTTTG ENST00000548266.1 + 0 296 ATTGTGGGGttttgtttgtttgtt 0.422 2 4 --- --- --- --- RP11-175P13.3 0 broad.mit.edu 37 12 100582504 100582505 + RNA INS - - A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr12:100582504_100582505insA ENST00000548404.2 - 0 197 GGTTCCCAGTCAAAAAAGTGAA 0.391 2 4 --- --- --- --- CASC18 101929110 broad.mit.edu 37 12 106122231 106122232 + RNA INS - - T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr12:106122231_106122232insT ENST00000548557.1 + 0 54 TCTCTCCCTTATTTTTAGGCAA 0.416 2 4 --- --- --- --- RP11-1028N23.4 0 broad.mit.edu 37 12 116030327 116030327 + RNA DEL T T - TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr12:116030327delT ENST00000551940.1 - 0 343 ctccattttcTTTTTTTTTTT 0.473 2 4 --- --- --- --- ZNF140 7699 broad.mit.edu 37 12 133683010 133683010 + Frame_Shift_Del DEL A A - TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr12:133683010delA ENST00000355557.2 + 5 2430 c.1147delA c.(1147-1149)aafs p.K383fs ZNF140_ENST00000440550.2_3'UTR|ZNF140_ENST00000544426.1_Frame_Shift_Del_p.K280fs NM_003440.2 NP_003431.2 P52738 ZN140_HUMAN zinc finger protein 140 383 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 10 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.114) OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05) CACTGGAGAGAAACCCTATGC 0.418 15 102 --- --- --- --- LINC00539 100652865 broad.mit.edu 37 13 21895825 21895825 + RNA DEL A A - rs34375679 TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr13:21895825delA ENST00000434601.2 - 0 473 NR_103840.1 TGTGCCCAGCAAAAAAAaaaa 0.478 2 4 --- --- --- --- RP11-124N19.3 0 broad.mit.edu 37 13 23493872 23493873 + RNA DEL TG TG - rs36047826 TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr13:23493872_23493873delTG ENST00000575845.1 + 0 86 agtattccactgtgtgtgtgtg 0.401 2 4 --- --- --- --- TUSC8 400128 broad.mit.edu 37 13 44978228 44978243 + RNA DEL TCTCTCTGTGTCTGTT TCTCTCTGTGTCTGTT - rs113764468 by1000genomes TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr13:44978228_44978243delTCTCTCTGTGTCTGTT ENST00000432701.2 - 0 272 tccgtctctgtctctctgtgtctgtttctctctgtc 0.449 3 5 --- --- --- --- LINC00348 100885781 broad.mit.edu 37 13 71607469 71607470 + RNA INS - - C TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr13:71607469_71607470insC ENST00000428761.1 + 0 108 NR_047699.1 ggccccaatcaccccccacttg 0.574 3 3 --- --- --- --- RNF219-AS1 100874222 broad.mit.edu 37 13 78615095 78615096 + RNA DEL AC AC - TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr13:78615095_78615096delAC ENST00000607862.1 + 0 230 GCCCCCTGAAACACACACACAC 0.347 3 6 --- --- --- --- RNF219-AS1 100874222 broad.mit.edu 37 13 78924032 78924032 + RNA DEL A A - TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr13:78924032delA ENST00000607862.1 + 0 315 RNF219-AS1_ENST00000607220.1_RNA|RNF219-AS1_ENST00000606376.1_RNA|RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000606187.1_RNA|RNF219-AS1_ENST00000444769.3_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000606803.1_RNA|RNF219-AS1_ENST00000605996.1_RNA|RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000606124.1_RNA TGTAGGAAGGAAAAAAAAAGG 0.358 2 4 --- --- --- --- MIR4500HG 642345 broad.mit.edu 37 13 88193466 88193469 + RNA DEL TAGC TAGC - rs137905877 TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr13:88193466_88193469delTAGC ENST00000436290.2 - 0 128 NR_033829.1 CACCTTAAAGTAGCTAGCTGCATC 0.431 3 5 --- --- --- --- LINC00596 414767 broad.mit.edu 37 14 24401061 24401061 + RNA DEL C C - TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr14:24401061delC ENST00000559615.1 - 0 597 cgaaaccagtccctggtgcca 0.413 2 4 --- --- --- --- RP11-562L8.1 0 broad.mit.edu 37 14 29748371 29748371 + RNA DEL G G - TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr14:29748371delG ENST00000551040.1 - 0 364 gtggagtggtggggaaaaaag 0.388 2 4 --- --- --- --- CTD-2058B24.2 0 broad.mit.edu 37 14 38533598 38533598 + RNA DEL T T - TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr14:38533598delT ENST00000554687.1 - 0 200 CTD-2058B24.2_ENST00000555342.1_RNA GTCAtttttgttttttgtaga 0.348 2 4 --- --- --- --- OTX2-AS1 100309464 broad.mit.edu 37 14 57512940 57512941 + RNA INS - - G rs10543554 TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr14:57512940_57512941insG ENST00000554725.1 + 0 344 ACAAAAAAAAAAAagagagaga 0.411 2 4 --- --- --- --- RP11-1152H15.1 0 broad.mit.edu 37 14 88294256 88294256 + RNA DEL T T - rs78846978 TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr14:88294256delT ENST00000554305.1 - 0 110 RP11-804L24.2_ENST00000555913.1_lincRNA tatcaagtgcttttttctgta 0.373 4 3 --- --- --- --- GALC 2581 broad.mit.edu 37 14 88321105 88321106 + RNA INS - - A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr14:88321105_88321106insA ENST00000554305.1 - 0 17 gactccgtctcaaaaaaacaaa 0.470 2 4 --- --- --- --- RP11-507B12.2 0 broad.mit.edu 37 15 61697243 61697244 + RNA DEL TG TG - rs71859525 TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr15:61697243_61697244delTG ENST00000559783.1 - 0 186 tatgtgtgtttgtgtgtgtgtg 0.406 3 4 --- --- --- --- RP11-648K4.2 0 broad.mit.edu 37 15 88132231 88132232 + RNA DEL TC TC - TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr15:88132231_88132232delTC ENST00000560439.1 - 0 80 tgaTACTGAGTCTCTGTCTTAT 0.475 4 3 --- --- --- --- CRTC3-AS1 101926895 broad.mit.edu 37 15 91217734 91217735 + RNA INS - - T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr15:91217734_91217735insT ENST00000559531.1 - 0 294 CAACATACttcttttttttttt 0.396 3 4 --- --- --- --- CRTC3-AS1 101926895 broad.mit.edu 37 15 91245348 91245349 + RNA DEL GT GT - TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr15:91245348_91245349delGT ENST00000559531.1 - 0 294 gtgtgtgcgcgtgtgtgtgtgC 0.480 2 4 --- --- --- --- LINC01579 283682 broad.mit.edu 37 15 94398352 94398352 + RNA DEL T T - rs10574706 TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr15:94398352delT ENST00000557481.2 - 0 430 ACTAAGCATCTTTTTTTTTTT 0.244 2 4 --- --- --- --- LINC01581 101927112 broad.mit.edu 37 15 94577628 94577628 + RNA DEL T T - TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr15:94577628delT ENST00000558874.1 - 0 1141 CAGTGTTAACTTTTTTTTTTC 0.348 2 4 --- --- --- --- LOC101927009 101927009 broad.mit.edu 37 16 9499634 9499635 + RNA INS - - ATAC rs140181290 by1000genomes TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr16:9499634_9499635insATAC ENST00000564305.1 + 0 2982_2983 CAGTTacacatacacacacatg 0.381 6 3 --- --- --- --- CES1P1 51716 broad.mit.edu 37 16 55802360 55802361 + RNA INS - - TCAT rs113112373 by1000genomes TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr16:55802360_55802361insTCAT ENST00000571348.1 + 0 448 NR_003276.2 GAAACGtttactcattcattca 0.460 4 5 --- --- --- --- LINC00922 283867 broad.mit.edu 37 16 65526534 65526535 + RNA INS - - A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr16:65526534_65526535insA ENST00000569736.1 - 0 217 NR_027755.1 ACACATTCACTAAAAAAACAAT 0.416 2 4 --- --- --- --- LOC100996425 100996425 broad.mit.edu 37 16 80924722 80924723 + RNA INS - - T rs66490638 by1000genomes TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr16:80924722_80924723insT ENST00000562231.1 - 0 91 tcaaataaatagcatatacata 0.297 4 4 --- --- --- --- AC137934.1 0 broad.mit.edu 37 16 90279596 90279597 + RNA INS - - A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr16:90279596_90279597insA ENST00000568418.1 + 0 263 aaaacaaaaacaaaaaaaCCGG 0.475 3 5 --- --- --- --- TBC1D3P3 653017 broad.mit.edu 37 17 20451429 20451430 + RNA INS - - C rs74830149 TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr17:20451429_20451430insC ENST00000591705.1 + 0 2746_2747 CATCCCCCCCACCCCCCCAGGC 0.579 2 4 --- --- --- --- SUZ12P1 440423 broad.mit.edu 37 17 29086616 29086616 + RNA DEL A A - TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr17:29086616delA ENST00000582557.1 + 0 1064 TTGTGAATGTAAAAAAAAAGT 0.299 2 4 --- --- --- --- LOC102723505 102723505 broad.mit.edu 37 17 70018181 70018182 + RNA DEL AA AA - rs60415916 TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr17:70018181_70018182delAA ENST00000430908.2 - 0 217 CTTTGGAAGGAAAAAAAAAAAA 0.307 2 4 --- --- --- --- LOC100507351 100507351 broad.mit.edu 37 17 75554356 75554357 + RNA INS - - C TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr17:75554356_75554357insC ENST00000591283.1 + 0 133_134 GTCCCCCAGCGCCCCCCGAGCA 0.624 2 4 --- --- --- --- RP11-78F17.1 0 broad.mit.edu 37 18 1035683 1035684 + RNA DEL AC AC - TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr18:1035683_1035684delAC ENST00000580781.1 + 0 306 ACATTACACTacacacacacac 0.312 2 4 --- --- --- --- RP11-78F17.1 0 broad.mit.edu 37 18 1055724 1055725 + RNA INS - - T rs141839360 by1000genomes TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr18:1055724_1055725insT ENST00000580781.1 + 0 306 tactcatttaattttttttttg 0.307 6 7 --- --- --- --- CTD-2015H3.2 0 broad.mit.edu 37 18 1695641 1695642 + RNA INS - - TTG rs57195893 by1000genomes TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr18:1695641_1695642insTTG ENST00000580524.1 + 0 408 tatctttgattttgttgttgtt 0.416 9 6 --- --- --- --- RP11-449D8.5 0 broad.mit.edu 37 18 22354358 22354359 + RNA DEL AT AT - rs145097040 TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr18:22354358_22354359delAT ENST00000582650.1 + 0 235 tgggacctgcatatcatgcaga 0.515 4 2 --- --- --- --- LOC284294 284294 broad.mit.edu 37 18 61994127 61994128 + RNA INS - - AC rs138807207 by1000genomes TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr18:61994127_61994128insAC ENST00000589376.1 + 0 580 NR_033881.1 TTTTCAAAATTacacacacaca 0.386 2 4 --- --- --- --- AC005780.1 0 broad.mit.edu 37 19 28837579 28837580 + RNA INS - - T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr19:28837579_28837580insT ENST00000592311.1 - 0 250 AGTCAGCAGAATTTTGCTCAGC 0.436 2 4 --- --- --- --- SPACA6P 147650 broad.mit.edu 37 19 52197986 52197987 + RNA INS - - T rs140038491 by1000genomes TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr19:52197986_52197987insT ENST00000573266.1 + 0 1212 NR_024330.1 GAAGGCAGCTCTAAGAGCCAGG 0.584 4 5 --- --- --- --- RP4-764O22.1 0 broad.mit.edu 37 20 7096539 7096540 + RNA INS - - T TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr20:7096539_7096540insT ENST00000425900.1 + 0 81 TTTTCATCCCATTTTTTTTGCT 0.381 2 4 --- --- --- --- RP4-610C12.1 0 broad.mit.edu 37 20 29591330 29591330 + RNA DEL G G - rs111496948 TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr20:29591330delG ENST00000432067.1 - 0 152 caatggggaaggaaaaagcaa 0.448 3 4 --- --- --- --- RP4-610C12.1 0 broad.mit.edu 37 20 29593345 29593346 + RNA DEL AG AG - rs113305967 TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr20:29593345_29593346delAG ENST00000432067.1 - 0 74 aaattgactaagacaATTGGTG 0.347 4 8 --- --- --- --- RP5-1121H13.4 0 broad.mit.edu 37 20 40635468 40635469 + RNA INS - - A rs67478321 by1000genomes TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr20:40635468_40635469insA ENST00000431589.1 + 0 131 CAAGACAAAATAAAAAAAACAT 0.391 3 6 --- --- --- --- APCDD1L-AS1 149773 broad.mit.edu 37 20 57168234 57168234 + RNA DEL C C - TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr20:57168234delC ENST00000427140.1 + 0 943 NR_034147.1 TAAGGTCCCACCCCCTCCACC 0.522 2 4 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11046078 11046079 + RNA INS - - AT rs144620563 TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr21:11046078_11046079insAT ENST00000470054.1 - 0 774 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) TTAAAAAAAACAAAGTTATTCG 0.262 3 4 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11055543 11055544 + RNA DEL CA CA - TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr21:11055543_11055544delCA ENST00000470054.1 - 0 487 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) atatacaaggcacaatcttatg 0.257 3 3 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11096543 11096544 + RNA DEL AG AG - rs55694987 TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr21:11096543_11096544delAG ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) tttttgagacagagtctccctc 0.495 3 6 --- --- --- --- MIR99AHG 388815 broad.mit.edu 37 21 17548597 17548597 + RNA DEL A A - TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr21:17548597delA ENST00000458468.1 + 0 312 NR_027790.1 TCTCTTTGCCAACACCTATAT 0.358 2 4 --- --- --- --- AF131217.1 0 broad.mit.edu 37 21 29849614 29849615 + RNA INS - - A TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr21:29849614_29849615insA ENST00000433310.1 - 0 456 TCCAGCATTTTAAAAACTTTTG 0.332 2 4 --- --- --- --- AF131217.1 0 broad.mit.edu 37 21 29973230 29973231 + RNA INS - - T rs146882239 by1000genomes TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr21:29973230_29973231insT ENST00000433310.1 - 0 294 ctttattccagtttccaataag 0.381 2 4 --- --- --- --- AP000282.2 0 broad.mit.edu 37 21 34372341 34372341 + RNA DEL A A - TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chr21:34372341delA ENST00000420356.1 - 0 201 AP000282.2_ENST00000454622.1_RNA GTAATTTGGGATAGAATCAAC 0.363 2 4 --- --- --- --- RP13-188A5.1 0 broad.mit.edu 37 X 55989624 55989624 + RNA DEL A A - TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chrX:55989624delA ENST00000452532.1 + 0 678 ATTTAAAAATAAAGAACATAA 0.348 2 4 --- --- --- --- LINC01278 92249 broad.mit.edu 37 X 62757565 62757565 + RNA DEL A A - TCGA-17-Z003-01A-01W-0746-08 TCGA-17-Z003-11A-01W-0746-08 Untested Somatic Phase_I WXS none Illumina GAIIx 443d768f-b871-4149-9ef0-2d49bc0d05a1 df1db93e-dd3b-48eb-9d24-8de9a08c4204 g.chrX:62757565delA ENST00000433061.1 - 0 218 cagctttgctaaaggacagta 0.537 2 4 --- --- --- ---