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 GLRA3 8001 broad.mit.edu 37 4 175565195 175565195 + Silent SNP G G A TCGA-DU-6542-01A-11D-1893-08 TCGA-DU-6542-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96dd5230-96ed-40d9-a861-339fdb8a9842 d6e9d687-e7e6-475b-8290-ddea4d015a92 g.chr4:175565195G>A ENST00000274093.3 - 10 1639 c.1137C>T c.(1135-1137)agC>agT p.S379S GLRA3_ENST00000340217.5_Silent_p.S364S NM_006529.2 NP_006520.2 O75311 GLRA3_HUMAN glycine receptor, alpha 3 379 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 35 Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107) all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421) Glycine(DB00145) AGCTGAATCGGCTTTCCCTTA 0.438000 4 129 0 0 0.001168 0 0 PTPRD 5789 broad.mit.edu 37 9 8376664 8376664 + Silent SNP C C T TCGA-DU-6542-01A-11D-1893-08 TCGA-DU-6542-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96dd5230-96ed-40d9-a861-339fdb8a9842 d6e9d687-e7e6-475b-8290-ddea4d015a92 g.chr9:8376664C>T ENST00000381196.4 - 35 4992 c.4449G>A c.(4447-4449)acG>acA p.T1483T PTPRD_ENST00000540109.1_Silent_p.T1483T|PTPRD_ENST00000360074.4_Silent_p.T1470T|PTPRD_ENST00000537002.1_Silent_p.T1073T|PTPRD_ENST00000486161.1_Silent_p.T1076T|PTPRD_ENST00000356435.5_Silent_p.T1483T|PTPRD_ENST00000355233.5_Silent_p.T1077T|PTPRD_ENST00000397606.3_Silent_p.T1076T|PTPRD_ENST00000397611.3_Silent_p.T1073T|PTPRD_ENST00000358503.5_Silent_p.T1461T|PTPRD_ENST00000397617.3_Silent_p.T1076T NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1483 Tyrosine-protein phosphatase 1. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) TATCAAGCAGCGTTACTTGAA 0.453000 TSP Lung(15;0.13) 15 41 0 0 0.004007 0 0 GABRG1 2565 broad.mit.edu 37 4 46099328 46099328 + Missense_Mutation SNP G G A TCGA-DU-6542-01A-11D-1893-08 TCGA-DU-6542-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96dd5230-96ed-40d9-a861-339fdb8a9842 d6e9d687-e7e6-475b-8290-ddea4d015a92 g.chr4:46099328G>A ENST00000295452.4 - 2 310 c.143C>T c.(142-144)aCg>aTg p.T48M NM_173536.3 NP_775807.2 Q8N1C3 GBRG1_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 1 48 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity p.T48M(4) 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) TTTGTTCACCGTTAAATCCTC 0.343000 5 182 0 0 0.001168 0 0 OR8I2 120586 broad.mit.edu 37 11 55861308 55861308 + Silent SNP T T C rs112181516 TCGA-DU-6542-01A-11D-1893-08 TCGA-DU-6542-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96dd5230-96ed-40d9-a861-339fdb8a9842 d6e9d687-e7e6-475b-8290-ddea4d015a92 g.chr11:55861308T>C ENST00000302124.2 + 1 556 c.525T>C c.(523-525)caT>caC p.H175H OR8I2_ENST00000560768.1_Silent_p.H175H Q8N0Y5 OR8I2_HUMAN olfactory receptor, family 8, subfamily I, member 2 175 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.C178fs*2(1) NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 53 Esophageal squamous(21;0.00693) GCATCAATCATTTTTTTTGTG 0.443000 7 117 0 0 0.001984 0 0 P2RY6 0 broad.mit.edu 37 11 73007739 73007739 + Missense_Mutation SNP C C T TCGA-DU-6542-01A-11D-1893-08 TCGA-DU-6542-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96dd5230-96ed-40d9-a861-339fdb8a9842 d6e9d687-e7e6-475b-8290-ddea4d015a92 g.chr11:73007739C>T ENST00000393590.2 + 2 475 c.176C>T c.(175-177)aCc>aTc p.T59I P2RY6_ENST00000542092.1_Missense_Mutation_p.T59I|P2RY6_ENST00000540124.1_Missense_Mutation_p.T59I|P2RY6_ENST00000540342.1_Missense_Mutation_p.T59I|P2RY6_ENST00000538328.1_Missense_Mutation_p.T59I|P2RY6_ENST00000349767.2_Missense_Mutation_p.T59I|P2RY6_ENST00000393591.1_Missense_Mutation_p.T59I|P2RY6_ENST00000393592.2_Missense_Mutation_p.T59I NM_001277207.1|NM_001277208.1 NP_001264136.1|NP_001264137.1 Q15077 P2RY6_HUMAN pyrimidinergic receptor P2Y, G-protein coupled, 6 59 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2) 14 CGGGCCCTGACCCGCACGGCC 0.612000 53 187 0 0 0.003610 0 0 MAML3 55534 broad.mit.edu 37 4 140811099 140811099 + Splice_Site SNP C C T TCGA-DU-6542-01A-11D-1893-08 TCGA-DU-6542-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96dd5230-96ed-40d9-a861-339fdb8a9842 d6e9d687-e7e6-475b-8290-ddea4d015a92 g.chr4:140811099C>T ENST00000398940.1 - 1 107 c.108_splice c.e1+1 p.Q36_splice MAML3_ENST00000327122.5_Silent_p.Q341Q|MAML3_ENST00000509479.2_Silent_p.Q497Q Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 497 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity p.Q497Q(2) breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) gctgctgctgctgctgctgct 0.542000 5 35 0 0 0.000602 0 0 INADL 10207 broad.mit.edu 37 1 62586854 62586854 + Splice_Site SNP G G A TCGA-DU-6542-01A-11D-1893-08 TCGA-DU-6542-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96dd5230-96ed-40d9-a861-339fdb8a9842 d6e9d687-e7e6-475b-8290-ddea4d015a92 g.chr1:62586854G>A ENST00000371158.2 + 38 5006 c.4890_splice c.e38-1 p.G1631_splice INADL_ENST00000472512.1_3'UTR NM_176877.2 NP_795352.2 Q8NI35 INADL_HUMAN InaD-like (Drosophila) 1631 intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3) 103 TTCTTTCAGGGTAGTCAGCAG 0.493000 44 76 0 0 0.003610 0 0 CCDC173 129881 broad.mit.edu 37 2 170537668 170537668 + Missense_Mutation SNP G G C TCGA-DU-6542-01A-11D-1893-08 TCGA-DU-6542-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96dd5230-96ed-40d9-a861-339fdb8a9842 d6e9d687-e7e6-475b-8290-ddea4d015a92 g.chr2:170537668G>C ENST00000447353.1 - 2 248 c.143C>G c.(142-144)aCc>aGc p.T48S NM_001085447.1 NP_001078916.1 coiled-coil domain containing 173 TGGAATTATGGTGACCTGCTG 0.388000 38 51 0 0 0.005524 0 0 DDX43 55510 broad.mit.edu 37 6 74117789 74117789 + Missense_Mutation SNP A A G TCGA-DU-6542-01A-11D-1893-08 TCGA-DU-6542-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96dd5230-96ed-40d9-a861-339fdb8a9842 d6e9d687-e7e6-475b-8290-ddea4d015a92 g.chr6:74117789A>G ENST00000370336.4 + 9 1302 c.1144A>G c.(1144-1146)Agt>Ggt p.S382G DDX43_ENST00000479773.1_3'UTR NM_018665.2 NP_061135.2 Q9NXZ2 DDX43_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 43 382 Helicase ATP-binding. intracellular ATP binding|ATP-dependent RNA helicase activity|RNA binding NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 24 TCTGCAAATGAGTAACTTCGT 0.388000 26 10 0 0 0.003954 0 0 SLC2A5 6518 broad.mit.edu 37 1 9100209 9100209 + Missense_Mutation SNP G G C TCGA-DU-6542-01A-11D-1893-08 TCGA-DU-6542-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96dd5230-96ed-40d9-a861-339fdb8a9842 d6e9d687-e7e6-475b-8290-ddea4d015a92 g.chr1:9100209G>C ENST00000377424.4 - 6 790 c.611C>G c.(610-612)gCg>gGg p.A204G SLC2A5_ENST00000536305.1_Missense_Mutation_p.A145G|SLC2A5_ENST00000377414.3_3'UTR|SLC2A5_ENST00000535586.1_Missense_Mutation_p.A89G NM_003039.2 NP_003030.1 P22732 GTR5_HUMAN solute carrier family 2 (facilitated glucose/fructose transporter), member 5 204 carbohydrate metabolic process integral to membrane|plasma membrane fructose transmembrane transporter activity|glucose transmembrane transporter activity endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1) 36 Ovarian(185;0.112)|all_lung(157;0.185) all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649) GAGCTGCAGCGCCGCGGGGAC 0.677000 2 6 0 0 0.004672 0 0 HCG17 0 broad.mit.edu 37 6 30228210 30228210 + RNA SNP C C T TCGA-DU-6542-01A-11D-1893-08 TCGA-DU-6542-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96dd5230-96ed-40d9-a861-339fdb8a9842 d6e9d687-e7e6-475b-8290-ddea4d015a92 g.chr6:30228210C>T ENST00000453558.1 - 0 126 HLA-L_ENST00000463348.1_RNA AGGATTACATCGCCCTGAACG 0.607000 24 29 0 0 0.004656 0 0 PCMTD1 115294 broad.mit.edu 37 8 52733124 52733124 + Silent SNP A A T TCGA-DU-6542-01A-11D-1893-08 TCGA-DU-6542-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96dd5230-96ed-40d9-a861-339fdb8a9842 d6e9d687-e7e6-475b-8290-ddea4d015a92 g.chr8:52733124A>T ENST00000360540.5 - 7 1267 c.861T>A c.(859-861)acT>acA p.T287T PCMTD1_ENST00000544451.1_Silent_p.T211T|PCMTD1_ENST00000522514.1_Silent_p.T287T|PCMTD1_ENST00000519559.1_5'UTR NM_052937.2 NP_443169.2 Q96MG8 PCMD1_HUMAN protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 287 cytoplasm protein-L-isoaspartate (D-aspartate) O-methyltransferase activity NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1) 37 Lung NSC(129;0.0795)|all_lung(136;0.144) CAAATACGTAAGTGTTAATTC 0.393000 9 218 0 0 0.002450 0 0 KIAA0101 9768 broad.mit.edu 37 15 64673564 64673564 + Missense_Mutation SNP G G A rs11554317 TCGA-DU-6542-01A-11D-1893-08 TCGA-DU-6542-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96dd5230-96ed-40d9-a861-339fdb8a9842 d6e9d687-e7e6-475b-8290-ddea4d015a92 g.chr15:64673564G>A ENST00000300035.4 - 1 145 c.7C>T c.(7-9)Cgg>Tgg p.R3W KIAA0101_ENST00000560234.1_Intron|KIAA0101_ENST00000559519.1_Missense_Mutation_p.R3W|KIAA0101_ENST00000380258.2_Missense_Mutation_p.R3W|KIAA0101_ENST00000558008.1_Missense_Mutation_p.R3W NM_014736.4 NP_055551.1 Q15004 PAF_HUMAN KIAA0101 3 mitochondrion|nucleus central_nervous_system(1)|lung(1)|upper_aerodigestive_tract(1) 3 GCTTTAGTCCGCACCATGTTC 0.577000 5 228 0 0 0.001984 0 0 WDR52 55779 broad.mit.edu 37 3 113098287 113098287 + Missense_Mutation SNP A A G TCGA-DU-6542-01A-11D-1893-08 TCGA-DU-6542-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96dd5230-96ed-40d9-a861-339fdb8a9842 d6e9d687-e7e6-475b-8290-ddea4d015a92 g.chr3:113098287A>G ENST00000393845.2 - 17 2230 c.2164T>C c.(2164-2166)Ttt>Ctt p.F722L WDR52_ENST00000295868.2_Missense_Mutation_p.F722L NM_001164496.1 NP_001157968.1 Q96MT7 WDR52_HUMAN WD repeat domain 52 722 Glu-rich. breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2) 49 tcctcctGAAATTCTTTTTCT 0.453000 31 51 0 0 0.002096 0 0 TTN 7273 broad.mit.edu 37 2 179480443 179480443 + Missense_Mutation SNP C C G TCGA-DU-6542-01A-11D-1893-08 TCGA-DU-6542-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96dd5230-96ed-40d9-a861-339fdb8a9842 d6e9d687-e7e6-475b-8290-ddea4d015a92 g.chr2:179480443C>G ENST00000589042.1 - 258 48609 c.48385G>C c.(48385-48387)Gtt>Ctt p.V16129L TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V7256L|TTN_ENST00000460472.2_Missense_Mutation_p.V7064L|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V14488L|TTN_ENST00000359218.5_Missense_Mutation_p.V7189L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V13561L NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 14488 Fibronectin type-III 17. 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) CGAGCACAAACTTTAAATAAG 0.373000 4 149 0 0 0.000248 0 0 TRIM48 79097 broad.mit.edu 37 11 55035824 55035824 + Splice_Site SNP A A G TCGA-DU-6542-01A-11D-1893-08 TCGA-DU-6542-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96dd5230-96ed-40d9-a861-339fdb8a9842 d6e9d687-e7e6-475b-8290-ddea4d015a92 g.chr11:55035824A>G ENST00000417545.2 + 4 641 c.e4-1 NM_024114.3 NP_077019.2 Q8IWZ4 TRI48_HUMAN tripartite motif containing 48 intracellular zinc ion binding endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 TTTTTTTTACAGGCTTTTGGA 0.343000 30 47 0 0 0.002445 0 0 TNN 63923 broad.mit.edu 37 1 175046809 175046809 + Silent SNP C C A TCGA-DU-6542-01A-11D-1893-08 TCGA-DU-6542-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96dd5230-96ed-40d9-a861-339fdb8a9842 d6e9d687-e7e6-475b-8290-ddea4d015a92 g.chr1:175046809C>A ENST00000239462.4 + 2 368 c.255C>A c.(253-255)atC>atA p.I85I NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 85 cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) AGAACATCATCTTCAGGCACA 0.607000 26 34 6.32553e-13 9.98028e-13 0.004656 1 0 MAGI3 260425 broad.mit.edu 37 1 114216013 114216013 + Missense_Mutation SNP A A G TCGA-DU-6542-01A-11D-1893-08 TCGA-DU-6542-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96dd5230-96ed-40d9-a861-339fdb8a9842 d6e9d687-e7e6-475b-8290-ddea4d015a92 g.chr1:114216013A>G ENST00000369615.1 + 19 3177 c.3115A>G c.(3115-3117)Aag>Gag p.K1039E MAGI3_ENST00000369617.4_Missense_Mutation_p.K1064E|MAGI3_ENST00000307546.9_Missense_Mutation_p.K1039E|MAGI3_ENST00000369611.4_Missense_Mutation_p.K1039E NM_152900.2 NP_690864.2 Q5TCQ9 MAGI3_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 3 1064 apoptosis|interspecies interaction between organisms|intracellular signal transduction nucleus|tight junction ATP binding|guanylate kinase activity|protein binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 Lung SC(450;0.184) all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CCGAGGGGGGAAGGAGTACAA 0.488000 4 191 0 0 0.000602 0 0 PLA2G2D 26279 broad.mit.edu 37 1 20442002 20442002 + Missense_Mutation SNP C C T TCGA-DU-6542-01A-11D-1893-08 TCGA-DU-6542-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96dd5230-96ed-40d9-a861-339fdb8a9842 d6e9d687-e7e6-475b-8290-ddea4d015a92 g.chr1:20442002C>T ENST00000375105.3 - 3 348 c.290G>A c.(289-291)tGc>tAc p.C97Y NM_012400.2 NP_036532.1 Q9UNK4 PA2GD_HUMAN phospholipase A2, group IID 97 inflammatory response|lipid catabolic process|phospholipid metabolic process extracellular region calcium ion binding|phospholipase A2 activity endometrium(1)|lung(2) 3 Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000798)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) GTACTCACAGCAGTGGATGTT 0.547000 Multiple Myeloma(11;0.12) 28 44 0 0 0.001786 0 0 SNED1 25992 broad.mit.edu 37 2 242003028 242003028 + Missense_Mutation SNP C C T TCGA-DU-6542-01A-11D-1893-08 TCGA-DU-6542-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96dd5230-96ed-40d9-a861-339fdb8a9842 d6e9d687-e7e6-475b-8290-ddea4d015a92 g.chr2:242003028C>T ENST00000310397.8 + 18 2396 c.2396C>T c.(2395-2397)cCg>cTg p.P799L AC005237.4_ENST00000458377.1_RNA|SNED1_ENST00000401884.1_Missense_Mutation_p.P799L|SNED1_ENST00000405547.3_Missense_Mutation_p.P799L|SNED1_ENST00000342631.6_Missense_Mutation_p.P799L NM_001080437.1 NP_001073906.1 Q8TER0 SNED1_HUMAN sushi, nidogen and EGF-like domains 1 799 EGF-like 12; calcium-binding (Potential). cell-matrix adhesion extracellular region calcium ion binding NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1) 24 all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109) CGAGCTCACCCGTGCAGAAAT 0.622000 4 12 0 0 0.001168 0 0 HMCN1 83872 broad.mit.edu 37 1 186045567 186045567 + Silent SNP A A T TCGA-DU-6542-01A-11D-1893-08 TCGA-DU-6542-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96dd5230-96ed-40d9-a861-339fdb8a9842 d6e9d687-e7e6-475b-8290-ddea4d015a92 g.chr1:186045567A>T ENST00000271588.4 + 54 8527 c.8298A>T c.(8296-8298)ccA>ccT p.P2766P HMCN1_ENST00000367492.2_Silent_p.P2766P NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 2766 Ig-like C2-type 26. response to stimulus|visual perception basement membrane calcium ion binding NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18) 308 TAGTTCCTCCAAGTTTTCAGA 0.378000 12 21 0 0 0.001368 0 0 ZAN 7455 broad.mit.edu 37 7 100370923 100370923 + RNA SNP C C T TCGA-DU-6542-01A-11D-1893-08 TCGA-DU-6542-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96dd5230-96ed-40d9-a861-339fdb8a9842 d6e9d687-e7e6-475b-8290-ddea4d015a92 g.chr7:100370923C>T ENST00000542585.1 + 0 5589 ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA NM_003386.1 NP_003377.1 Q9Y493 ZAN_HUMAN zonadhesin (gene/pseudogene) binding of sperm to zona pellucida|cell-cell adhesion integral to membrane|plasma membrane NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3) 139 Lung NSC(181;0.041)|all_lung(186;0.0581) STAD - Stomach adenocarcinoma(171;0.19) AGGTGCCCACCTGGCAGCAGC 0.587000 28 35 0 0 0.005443 0 0 OR5M9 390162 broad.mit.edu 37 11 56230846 56230846 + Missense_Mutation SNP G G C TCGA-DU-6542-01A-11D-1893-08 TCGA-DU-6542-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96dd5230-96ed-40d9-a861-339fdb8a9842 d6e9d687-e7e6-475b-8290-ddea4d015a92 g.chr11:56230846G>C ENST00000279791.1 - 1 31 c.32C>G c.(31-33)aCt>aGt p.T11S NM_001004743.1 NP_001004743.1 Q8NGP3 OR5M9_HUMAN olfactory receptor, family 5, subfamily M, member 9 11 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2) 36 Esophageal squamous(21;0.00448) CCCCAGGAGAGTAAATTCTGT 0.418000 9 37 0 0 0.004482 0 0 IDH1 3417 broad.mit.edu 37 2 209113112 209113112 + Missense_Mutation SNP C C T rs121913500 TCGA-DU-6542-01A-11D-1893-08 TCGA-DU-6542-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96dd5230-96ed-40d9-a861-339fdb8a9842 d6e9d687-e7e6-475b-8290-ddea4d015a92 g.chr2:209113112C>T ENST00000415913.1 - 4 776 c.395G>A c.(394-396)cGt>cAt p.R132H IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H O75874 IDHC_HUMAN isocitrate dehydrogenase 1 (NADP+), soluble 132 R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). 2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle cytosol|peroxisomal matrix isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1) NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1) 4887 Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136) ATAAGCATGACGACCTATGAT 0.393000 Mis gliobastoma 18 43 0 0 0.008871 0 0 OR4X1 390113 broad.mit.edu 37 11 48285724 48285724 + Missense_Mutation SNP C C A TCGA-DU-6542-01A-11D-1893-08 TCGA-DU-6542-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96dd5230-96ed-40d9-a861-339fdb8a9842 d6e9d687-e7e6-475b-8290-ddea4d015a92 g.chr11:48285724C>A ENST00000320048.1 + 1 312 c.312C>A c.(310-312)ttC>ttA p.F104L NM_001004726.1 NP_001004726.1 Q8NH49 OR4X1_HUMAN olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene) 104 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1) 28 CCCTCCATTTCTTTGGTGGCA 0.498000 33 53 1.62565e-12 2.50915e-12 0.002445 1 0 CROCCP3 0 broad.mit.edu 37 1 16811337 16811337 + RNA SNP C C G TCGA-DU-6542-01A-11D-1893-08 TCGA-DU-6542-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96dd5230-96ed-40d9-a861-339fdb8a9842 d6e9d687-e7e6-475b-8290-ddea4d015a92 g.chr1:16811337C>G ENST00000263511.4 - 0 1552 NR_023386.1 GTCCCTTAGGCTCTGCTGTAG 0.632000 2 3 0 0 0.000248 0 0 SPECC1L 23384 broad.mit.edu 37 22 24808653 24808653 + Missense_Mutation SNP G G T TCGA-DU-6542-01A-11D-1893-08 TCGA-DU-6542-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96dd5230-96ed-40d9-a861-339fdb8a9842 d6e9d687-e7e6-475b-8290-ddea4d015a92 g.chr22:24808653G>T ENST00000314328.9 + 16 3527 c.3242G>T c.(3241-3243)aGt>aTt p.S1081I SPECC1L_ENST00000541492.1_Missense_Mutation_p.S1042I|SPECC1L_ENST00000437398.1_Missense_Mutation_p.S1081I|KB-1896H10.1_ENST00000358654.2_3'UTR NM_001254733.1|NM_015330.3 NP_001241662.1|NP_056145.3 Q69YQ0 CYTSA_HUMAN sperm antigen with calponin homology and coiled-coil domains 1-like 1081 CH. cell cycle|cell division breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(3)|stomach(2)|urinary_tract(1) 27 GCAGCTGAAAGTGTCGGCATC 0.512000 4 63 1.23904e-05 1.79534e-05 0.000602 1 0 CRIPAK 285464 broad.mit.edu 37 4 1389323 1389323 + Missense_Mutation SNP G G A rs71299249 byFrequency TCGA-DU-6542-01A-11D-1893-08 TCGA-DU-6542-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96dd5230-96ed-40d9-a861-339fdb8a9842 d6e9d687-e7e6-475b-8290-ddea4d015a92 g.chr4:1389323G>A ENST00000324803.4 + 1 3984 c.1024G>A c.(1024-1026)Gcc>Acc p.A342T NM_175918.3 NP_787114.2 Q8N1N5 CRPAK_HUMAN cysteine-rich PAK1 inhibitor 342 ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus endoplasmic reticulum|nucleus|plasma membrane protein binding NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1) 35 OV - Ovarian serous cystadenocarcinoma(23;0.0106) TGGAGTGCCCGCCTGCTCACA 0.667000 8 465 0 0 0.004482 0 0 APPBP2 10513 broad.mit.edu 37 17 58556547 58556547 + Missense_Mutation SNP C C G TCGA-DU-6542-01A-11D-1893-08 TCGA-DU-6542-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96dd5230-96ed-40d9-a861-339fdb8a9842 d6e9d687-e7e6-475b-8290-ddea4d015a92 g.chr17:58556547C>G ENST00000083182.3 - 4 752 c.465G>C c.(463-465)gaG>gaC p.E155D NM_006380.2 NP_006371.2 Q92624 APBP2_HUMAN amyloid beta precursor protein (cytoplasmic tail) binding protein 2 155 intracellular protein transport cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus microtubule motor activity|protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1) 25 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01) AATGAAGCATCTCATCGTGTA 0.383000 30 55 0 0 0.002445 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128671 45128671 + RNA SNP T T G rs1056072 by1000genomes TCGA-DU-6542-01A-11D-1893-08 TCGA-DU-6542-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96dd5230-96ed-40d9-a861-339fdb8a9842 d6e9d687-e7e6-475b-8290-ddea4d015a92 g.chr17:45128671T>G ENST00000575173.1 - 0 418 GCTCACAAAATAAGTTCCAGG 0.323000 4 113 0 0 0.000248 0 0 ANKRD20A8P 0 broad.mit.edu 37 2 95522815 95522815 + RNA SNP A A G TCGA-DU-6542-01A-11D-1893-08 TCGA-DU-6542-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96dd5230-96ed-40d9-a861-339fdb8a9842 d6e9d687-e7e6-475b-8290-ddea4d015a92 g.chr2:95522815A>G ENST00000432432.2 - 0 212 NR_040113.1 ATCTTCTGCAATTCGGAGTCC 0.652000 3 115 0 0 0.001168 0 0 ABCF2 10061 broad.mit.edu 37 7 150911221 150911221 + Silent SNP G G A TCGA-DU-6542-01A-11D-1893-08 TCGA-DU-6542-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96dd5230-96ed-40d9-a861-339fdb8a9842 d6e9d687-e7e6-475b-8290-ddea4d015a92 g.chr7:150911221G>A ENST00000287844.2 - 15 1900 c.1791C>T c.(1789-1791)gaC>gaT p.D597D ABCF2_ENST00000222388.2_Silent_p.D597D NM_007189.1 NP_009120.1 Q9UG63 ABCF2_HUMAN ATP-binding cassette, sub-family F (GCN20), member 2 597 ABC transporter 2. ATP-binding cassette (ABC) transporter complex|mitochondrial envelope ATP binding|ATPase activity|transporter activity breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2) 24 OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) AAGCCAGGATGTCTCCAGGCC 0.542000 26 41 0 0 0.003954 0 0 TTN 7273 broad.mit.edu 37 2 179422678 179422678 + Missense_Mutation SNP G G C TCGA-DU-6542-01A-11D-1893-08 TCGA-DU-6542-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96dd5230-96ed-40d9-a861-339fdb8a9842 d6e9d687-e7e6-475b-8290-ddea4d015a92 g.chr2:179422678G>C ENST00000589042.1 - 328 87627 c.87403C>G c.(87403-87405)Cta>Gta p.L29135V TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L20262V|TTN_ENST00000460472.2_Missense_Mutation_p.L20070V|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.L27494V|TTN_ENST00000359218.5_Missense_Mutation_p.L20195V|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L26567V NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 27494 Fibronectin type-III 112. 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) GGCCTGTCTAGCACAACAATG 0.448000 18 229 0 0 0.008871 0 0 ADAP2 55803 broad.mit.edu 37 17 29271931 29271931 + Missense_Mutation SNP A A G TCGA-DU-6542-01A-11D-1893-08 TCGA-DU-6542-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96dd5230-96ed-40d9-a861-339fdb8a9842 d6e9d687-e7e6-475b-8290-ddea4d015a92 g.chr17:29271931A>G ENST00000330889.3 + 6 852 c.517A>G c.(517-519)Agc>Ggc p.S173G ADAP2_ENST00000580525.1_Missense_Mutation_p.S179G NM_018404.2 NP_060874.1 Q9NPF8 ADAP2_HUMAN ArfGAP with dual PH domains 2 173 PH 1. heart development|regulation of ARF GTPase activity mitochondrial envelope|plasma membrane ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding p.?(1) breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 13 TCAGGGTAAAAGCCCCAAAGC 0.498000 3 111 0 0 0.004672 0 0 SELP 6403 broad.mit.edu 37 1 169581487 169581487 + Missense_Mutation SNP C C A TCGA-DU-6542-01A-11D-1893-08 TCGA-DU-6542-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96dd5230-96ed-40d9-a861-339fdb8a9842 d6e9d687-e7e6-475b-8290-ddea4d015a92 g.chr1:169581487C>A ENST00000263686.6 - 6 966 c.929G>T c.(928-930)gGg>gTg p.G310V SELP_ENST00000367788.2_Intron|SELP_ENST00000367786.2_Missense_Mutation_p.G310V|SELP_ENST00000367794.2_Missense_Mutation_p.G310V|SELP_ENST00000367791.2_Missense_Mutation_p.G310V|SELP_ENST00000367793.2_Intron|SELP_ENST00000458599.2_Missense_Mutation_p.G310V|SELP_ENST00000367792.2_Missense_Mutation_p.G310V NM_003005.3 NP_002996.2 P16109 LYAM3_HUMAN selectin P (granule membrane protein 140kDa, antigen CD62) 310 Sushi 2. platelet activation|platelet degranulation|positive regulation of platelet activation external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_hematologic(923;0.208) Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775) TGTCCATACCCCCGAGGCTGT 0.488000 5 102 5.9392e-07 8.78507e-07 0.001168 1 0 ABCC3 8714 broad.mit.edu 37 17 48733300 48733300 + Silent SNP C C T TCGA-DU-6542-01A-11D-1893-08 TCGA-DU-6542-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96dd5230-96ed-40d9-a861-339fdb8a9842 d6e9d687-e7e6-475b-8290-ddea4d015a92 g.chr17:48733300C>T ENST00000285238.8 + 2 233 c.153C>T c.(151-153)tgC>tgT p.C51C ABCC3_ENST00000427699.1_Silent_p.C51C NM_003786.3 NP_003777.2 O15438 MRP3_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 3 51 bile acid metabolic process integral to plasma membrane|membrane fraction ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 BRCA - Breast invasive adenocarcinoma(22;3.05e-09) Glibenclamide(DB01016) CCCTGCCCTGCTACTTGCTCT 0.597000 9 57 0 0 0.006214 0 0 TP53 7157 broad.mit.edu 37 17 7578190 7578190 + Missense_Mutation SNP T T C rs121912666 TCGA-DU-6542-01A-11D-1893-08 TCGA-DU-6542-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96dd5230-96ed-40d9-a861-339fdb8a9842 d6e9d687-e7e6-475b-8290-ddea4d015a92 g.chr17:7578190T>C ENST00000420246.2 - 6 791 c.659A>G c.(658-660)tAt>tGt p.Y220C TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000269305.4_Missense_Mutation_p.Y220C|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 220 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation). 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.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(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) AGGCGGCTCATAGGGCACCAC 0.557000 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) 25 4 0 0 0.005443 0 0 VEGFC 7424 broad.mit.edu 37 4 177605151 177605151 + Missense_Mutation SNP G G C TCGA-DU-6542-01A-11D-1893-08 TCGA-DU-6542-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96dd5230-96ed-40d9-a861-339fdb8a9842 d6e9d687-e7e6-475b-8290-ddea4d015a92 g.chr4:177605151G>C ENST00000280193.2 - 7 1604 c.1189C>G c.(1189-1191)Cca>Gca p.P397A RP11-313E19.2_ENST00000509194.1_RNA|RP11-313E19.2_ENST00000504017.1_RNA NM_005429.2 NP_005420.1 P49767 VEGFC_HUMAN vascular endothelial growth factor C 397 angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway membrane|platelet alpha granule lumen chemoattractant activity|growth factor activity biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2) 41 Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397) GAAAATCCTGGCTCACAAGCC 0.418000 50 53 0 0 0.003610 0 0 UGT1A6 0 broad.mit.edu 37 2 234602346 234602346 + Silent SNP C C T TCGA-DU-6542-01A-11D-1893-08 TCGA-DU-6542-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96dd5230-96ed-40d9-a861-339fdb8a9842 d6e9d687-e7e6-475b-8290-ddea4d015a92 g.chr2:234602346C>T ENST00000305139.6 + 1 835 c.696C>T c.(694-696)ctC>ctT p.L232L UGT1A6_ENST00000480628.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A7_ENST00000373426.3_Intron|AC114812.8_ENST00000439336.1_RNA|UGT1A6_ENST00000406651.1_5'UTR|UGT1A6_ENST00000373424.1_Intron NM_001072.3 NP_001063.2 central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1) 22 Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128) Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702) ATGAAGAACTCGCATCAGCTG 0.393000 13 176 0 0 0.001368 0 0 TRPV5 56302 broad.mit.edu 37 7 142609711 142609711 + Silent SNP G G A TCGA-DU-6542-01A-11D-1893-08 TCGA-DU-6542-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96dd5230-96ed-40d9-a861-339fdb8a9842 d6e9d687-e7e6-475b-8290-ddea4d015a92 g.chr7:142609711G>A ENST00000265310.1 - 13 2073 c.1725C>T c.(1723-1725)atC>atT p.I575I NM_019841.4 NP_062815.2 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, subfamily V, member 5 575 protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 67 Melanoma(164;0.059) CCATCATGGCGATGAACAAGT 0.542000 15 107 0 0 0.003163 0 0 SBSN 374897 broad.mit.edu 37 19 36018407 36018407 + Silent SNP T T C TCGA-DU-6542-01A-11D-1893-08 TCGA-DU-6542-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96dd5230-96ed-40d9-a861-339fdb8a9842 d6e9d687-e7e6-475b-8290-ddea4d015a92 g.chr19:36018407T>C ENST00000452271.2 - 1 805 c.777A>G c.(775-777)agA>agG p.R259R SBSN_ENST00000518157.1_Intron NM_001166034.1 NP_001159506.1 Q6UWP8 SBSN_HUMAN suprabasin 132 extracellular region large_intestine(5)|lung(6)|ovary(1)|prostate(2) 14 all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) CCTGGCCAAATCTCCCTGCCT 0.627000 3 4 0 0 0.004672 0 0 VEGFC 7424 broad.mit.edu 37 4 177605165 177605165 + Missense_Mutation SNP T T C TCGA-DU-6542-01A-11D-1893-08 TCGA-DU-6542-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96dd5230-96ed-40d9-a861-339fdb8a9842 d6e9d687-e7e6-475b-8290-ddea4d015a92 g.chr4:177605165T>C ENST00000280193.2 - 7 1590 c.1175A>G c.(1174-1176)cAg>cGg p.Q392R RP11-313E19.2_ENST00000509194.1_RNA|RP11-313E19.2_ENST00000504017.1_RNA NM_005429.2 NP_005420.1 P49767 VEGFC_HUMAN vascular endothelial growth factor C 392 angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway membrane|platelet alpha granule lumen chemoattractant activity|growth factor activity biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2) 41 Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397) ACAAGCCTTCTGGCGGTTCGT 0.418000 49 55 0 0 0.003610 0 0 CELSR3 1951 broad.mit.edu 37 3 48694173 48694173 + Missense_Mutation SNP G G A TCGA-DU-6542-01A-11D-1893-08 TCGA-DU-6542-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96dd5230-96ed-40d9-a861-339fdb8a9842 d6e9d687-e7e6-475b-8290-ddea4d015a92 g.chr3:48694173G>A ENST00000544264.1 - 2 4637 c.4357C>T c.(4357-4359)Cgc>Tgc p.R1453C CELSR3_ENST00000164024.4_Missense_Mutation_p.R1453C Q9NYQ7 CELR3_HUMAN cadherin, EGF LAG seven-pass G-type receptor 3 1453 EGF-like 2; calcium-binding. homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) CCTCCCTCGCGCCGCGCGCAG 0.726000 5 7 0 0 0.001984 0 0 PNLIPRP1 5407 broad.mit.edu 37 10 118364906 118364906 + Missense_Mutation SNP T T C TCGA-DU-6542-01A-11D-1893-08 TCGA-DU-6542-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96dd5230-96ed-40d9-a861-339fdb8a9842 d6e9d687-e7e6-475b-8290-ddea4d015a92 g.chr10:118364906T>C ENST00000528052.1 + 12 1252 c.1181T>C c.(1180-1182)cTc>cCc p.L394P PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.L394P|PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.L394P P54315 LIPR1_HUMAN pancreatic lipase-related protein 1 394 PLAT. lipid metabolic process calcium ion binding|triglyceride lipase activity breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 38 all cancers(201;0.0161) AGGGGGATTCTCAAACCAGGC 0.383000 3 126 0 0 0.004672 0 0 CLCN6 1185 broad.mit.edu 37 1 11883807 11883810 + Frame_Shift_Del DEL TGAA TGAA - TCGA-DU-6542-01A-11D-1893-08 TCGA-DU-6542-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96dd5230-96ed-40d9-a861-339fdb8a9842 d6e9d687-e7e6-475b-8290-ddea4d015a92 g.chr1:11883807_11883810delTGAA ENST00000346436.6 + 7 549_552 c.497_500delTGAA c.(496-501)ctfs p.LN166fs CLCN6_ENST00000376487.3_Frame_Shift_Del_p.LN144fs|CLCN6_ENST00000376492.3_3'UTR|CLCN6_ENST00000376496.3_Frame_Shift_Del_p.LN166fs|CLCN6_ENST00000312413.6_Frame_Shift_Del_p.LN166fs NM_001286.3 NP_001277.1 P51797 CLCN6_HUMAN chloride channel, voltage-sensitive 6 166 cell volume homeostasis|signal transduction endosome membrane|integral to membrane antiporter activity|ATP binding|voltage-gated chloride channel activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4) 36 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) AAATGCTATCTGAATGGCGTAAAG 0.554 29 79 --- --- --- --- ARHGAP22 58504 broad.mit.edu 37 10 49658514 49658514 + Frame_Shift_Del DEL G G - TCGA-DU-6542-01A-11D-1893-08 TCGA-DU-6542-10A-01D-1893-08 Untested Somatic Phase_I WXS none Illumina GAIIx 96dd5230-96ed-40d9-a861-339fdb8a9842 d6e9d687-e7e6-475b-8290-ddea4d015a92 g.chr10:49658514delG ENST00000249601.4 - 9 1954 c.1658delC c.(1657-1659)cgfs p.P553fs ARHGAP22_ENST00000477708.2_Frame_Shift_Del_p.P386fs|ARHGAP22_ENST00000417912.2_Frame_Shift_Del_p.P569fs|ARHGAP22_ENST00000417247.2_Frame_Shift_Del_p.P463fs|ARHGAP22_ENST00000374172.1_Frame_Shift_Del_p.P444fs|ARHGAP22_ENST00000435790.2_Frame_Shift_Del_p.P559fs|ARHGAP22_ENST00000374170.1_Frame_Shift_Del_p.P394fs NM_001256024.1|NM_021226.3 NP_001242953.1|NP_067049.2 Q7Z5H3 RHG22_HUMAN Rho GTPase activating protein 22 553 Ser-rich. angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol|nucleus GTPase activator activity endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 GCTGGGGAGCGGGGAGGGCTC 0.726 2 4 --- --- --- ---