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 LRRN1 57633 broad.mit.edu 37 3 3887513 3887513 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:3887513C>T ENST00000319331.3 + 2 1949 c.1188C>T c.(1186-1188)tcC>tcT p.S396S SUMF1_ENST00000534863.1_Intron NM_020873.5 NP_065924.3 Q6UXK5 LRRN1_HUMAN leucine rich repeat neuronal 1 396 LRRCT. integral to membrane NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2) 26 Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617) AGCCCCTGTCCATGTTCTGTG 0.493000 30 49 0 0 1 0 0 CD2BP2 10421 broad.mit.edu 37 16 30364565 30364565 + Missense_Mutation SNP T T A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr16:30364565T>A ENST00000305596.3 - 6 1027 c.852A>T c.(850-852)gaA>gaT p.E284D CD2BP2_ENST00000569466.1_Missense_Mutation_p.E284D NM_006110.2 NP_006101.1 O95400 CD2B2_HUMAN CD2 (cytoplasmic tail) binding protein 2 284 GYF. assembly of spliceosomal tri-snRNP cytoplasm|nucleoplasm|U5 snRNP protein binding|ribonucleoprotein binding breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1) 15 CCCACTTATATTCCCACATCA 0.572000 33 58 0 0 1 0 0 GMEB2 26205 broad.mit.edu 37 20 62221767 62221767 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr20:62221767G>A ENST00000266068.1 - 9 1746 c.1268C>T c.(1267-1269)cCg>cTg p.P423L GMEB2_ENST00000370077.1_Missense_Mutation_p.P423L|GMEB2_ENST00000370069.1_Missense_Mutation_p.P372L Q9UKD1 GMEB2_HUMAN glucocorticoid modulatory element binding protein 2 423 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|metal ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1) 18 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114) CGGGGAGGCCGGGGAGCTGGC 0.692000 5 11 0 0 1 0 0 PABPC5 140886 broad.mit.edu 37 X 90691155 90691155 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:90691155G>A ENST00000312600.3 + 2 793 c.579G>A c.(577-579)agG>agA p.R193R PABPC5_ENST00000373105.1_Silent_p.R29R NM_080832.2 NP_543022.1 Q96DU9 PABP5_HUMAN poly(A) binding protein, cytoplasmic 5 193 cytoplasm nucleotide binding|RNA binding central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1) 42 TCAGAACCAGGGATAGAGCAA 0.473000 27 31 0 0 1 0 0 DNAH11 8701 broad.mit.edu 37 7 21784504 21784504 + Missense_Mutation SNP T T G TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:21784504T>G ENST00000328843.6 + 52 8385 c.8354T>G c.(8353-8355)aTg>aGg p.M2785R DNAH11_ENST00000409508.3_Missense_Mutation_p.M2778R Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 2785 microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 GATAGTCACATGCTGCTTCAA 0.478000 Kartagener syndrome 7 13 0 0 1 0 0 MAGEE1 57692 broad.mit.edu 37 X 75649270 75649270 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:75649270C>T ENST00000361470.2 + 1 1225 c.947C>T c.(946-948)tCg>tTg p.S316L NM_020932.2 NP_065983.1 Q9HCI5 MAGE1_HUMAN melanoma antigen family E, 1 316 Pro-rich. dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1) 51 GGTGAGGGATCGAGCACCTCC 0.711000 13 24 0 0 1 0 0 SLC30A10 55532 broad.mit.edu 37 1 220089093 220089093 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:220089093C>T ENST00000366926.3 - 4 1317 c.1156G>A c.(1156-1158)Gac>Aac p.D386N SLC30A10_ENST00000484079.1_5'UTR|SLC30A10_ENST00000536446.1_Missense_Mutation_p.D141N NM_018713.2 NP_061183.2 Q6XR72 ZNT10_HUMAN solute carrier family 30, member 10 386 zinc ion transport integral to membrane|plasma membrane cation transmembrane transporter activity NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1) 13 GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209) TCCTTCAAGTCCACATTTTCA 0.512000 24 43 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179500735 179500735 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:179500735C>T ENST00000589042.1 - 226 41787 c.41563G>A c.(41563-41565)Gaa>Aaa p.E13855K TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E11287K|TTN_ENST00000591111.1_Missense_Mutation_p.E12214K|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E4915K|TTN_ENST00000342175.6_Missense_Mutation_p.E4982K|TTN_ENST00000460472.2_Missense_Mutation_p.E4790K|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 12214 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) TTGGCGTTTTCCACAGTAACT 0.458000 41 58 0 0 1 0 0 SYT11 23208 broad.mit.edu 37 1 155838038 155838038 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:155838038G>A ENST00000368324.4 + 2 570 c.317G>A c.(316-318)cGa>cAa p.R106Q SYT11_ENST00000539162.1_Intron NM_152280.4 NP_689493.3 Q9BT88 SYT11_HUMAN synaptotagmin XI 106 cell junction|synaptic vesicle membrane protein binding|transporter activity breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;0.000162) CTGCTAAGCCGAGACAAAGAT 0.512000 49 53 0 0 1 0 0 PTPN6 5777 broad.mit.edu 37 12 7064398 7064398 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:7064398G>A ENST00000456013.1 + 5 843 c.601G>A c.(601-603)Gag>Aag p.E201K PTPN6_ENST00000399448.1_Missense_Mutation_p.E203K|PTPN6_ENST00000318974.9_Missense_Mutation_p.E201K|PTPN6_ENST00000447931.2_Missense_Mutation_p.E162K NM_080549.3 NP_536859.1 P29350 PTN6_HUMAN protein tyrosine phosphatase, non-receptor type 6 201 SH2 2. apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway cytosol|membrane|nucleus protein binding|protein tyrosine phosphatase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3) 18 GGGGATTGAGGAGGCCTCAGG 0.622000 55 77 0 0 1 0 0 ZNF285 26974 broad.mit.edu 37 19 44891418 44891418 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:44891418G>A ENST00000330997.4 - 4 1053 c.989C>T c.(988-990)tCc>tTc p.S330F ZNF285_ENST00000544719.2_Missense_Mutation_p.S330F|CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000591679.1_Missense_Mutation_p.S337F NM_152354.3 NP_689567.3 zinc finger protein 285 breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 GTTGTGAAGGGAAGAGCTGCG 0.473000 32 61 0 0 1 0 0 OR6Y1 391112 broad.mit.edu 37 1 158516955 158516955 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:158516955C>T ENST00000302617.3 - 1 940 c.941G>A c.(940-942)gGa>gAa p.G314E NM_001005189.1 NP_001005189.1 Q8NGX8 OR6Y1_HUMAN olfactory receptor, family 6, subfamily Y, member 1 314 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 30 all_hematologic(112;0.0378) GGGCCCACTTCCTCTGCAATG 0.458000 10 51 0 0 1 0 0 GPR179 440435 broad.mit.edu 37 17 36483193 36483193 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:36483193G>A ENST00000342292.4 - 11 6279 c.6259C>T c.(6259-6261)Cca>Tca p.P2087S GPR179_ENST00000584976.1_Intron NM_001004334.2 NP_001004334.2 Q6PRD1 GP179_HUMAN G protein-coupled receptor 179 2087 integral to membrane|plasma membrane G-protein coupled receptor activity breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) GCTGGCTGTGGGGACAGACCC 0.577000 44 77 0 0 1 0 0 THRAP3 9967 broad.mit.edu 37 1 36752626 36752626 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:36752626C>T ENST00000354618.5 + 4 1019 c.795C>T c.(793-795)ccC>ccT p.P265P THRAP3_ENST00000469141.2_Silent_p.P265P NM_005119.3 NP_005110.2 Q9Y2W1 TR150_HUMAN thyroid hormone receptor associated protein 3 265 Ser-rich. androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1) 37 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) GGCGGTCACCCCGTCCTAGCC 0.622000 T USP6 aneurysmal bone cysts 43 39 0 0 1 0 0 COL9A3 1299 broad.mit.edu 37 20 61468564 61468564 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr20:61468564G>A ENST00000343916.3 + 30 1736 c.1733G>A c.(1732-1734)gGa>gAa p.G578E COL9A3_ENST00000462700.1_3'UTR NM_001853.3 NP_001844.3 Q14050 CO9A3_HUMAN collagen, type IX, alpha 3 578 Triple-helical region 2 (COL2). axon guidance collagen type IX breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 Breast(26;5.68e-08) GGCGCTCGAGGACCCCCTGGA 0.677000 34 56 0 0 1 0 0 ZBTB40 9923 broad.mit.edu 37 1 22835697 22835697 + Missense_Mutation SNP G G C rs150068799 TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:22835697G>C ENST00000404138.1 + 10 2315 c.1804G>C c.(1804-1806)Gag>Cag p.E602Q ZBTB40_ENST00000375647.4_Missense_Mutation_p.E602Q|ZBTB40_ENST00000374651.4_Missense_Mutation_p.E490Q NM_001083621.1 NP_001077090.1 Q9NUA8 ZBT40_HUMAN zinc finger and BTB domain containing 40 602 bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216) TACCTCGGAGGAGGAGCACCT 0.473000 13 51 0 0 1 0 0 MAST1 22983 broad.mit.edu 37 19 12962939 12962939 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:12962939C>T ENST00000251472.4 + 9 926 c.887C>T c.(886-888)cCc>cTc p.P296L MAST1_ENST00000591495.1_Missense_Mutation_p.P292L NM_014975.2 NP_055790.1 Q9Y2H9 MAST1_HUMAN microtubule associated serine/threonine kinase 1 296 cytoskeleton organization|intracellular protein kinase cascade cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3) 56 GAATTCAACCCCGAGGAGTTC 0.652000 34 71 0 0 1 0 0 IDS 3423 broad.mit.edu 37 X 148568459 148568459 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:148568459G>A ENST00000340855.6 - 8 1386 c.1177C>T c.(1177-1179)Cca>Tca p.P393S IDS_ENST00000541269.1_Missense_Mutation_p.P182S|IDS_ENST00000537071.1_Intron|AF011889.5_ENST00000422081.1_RNA NM_000202.5|NM_001166550.1 NP_000193.1|NP_001160022.1 P22304 IDS_HUMAN iduronate 2-sulfatase 393 lysosome iduronate-2-sulfatase activity|metal ion binding NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1) 20 Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662) TTTATACCTGGCTCCATCAAC 0.433000 30 40 0 0 1 0 0 GABARAPL3 23766 broad.mit.edu 37 15 90892082 90892082 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr15:90892082C>T ENST00000412799.2 - 1 587 c.348G>A c.(346-348)ggG>ggA p.G116G CCACTCATTTCCCATAGACAC 0.527000 3 13 0 0 1 0 0 PANK4 55229 broad.mit.edu 37 1 2445840 2445840 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:2445840G>A ENST00000378466.3 - 11 1452 c.1440C>T c.(1438-1440)ttC>ttT p.F480F PANK4_ENST00000435556.3_Silent_p.F441F NM_018216.1 NP_060686.1 Q9NVE7 PANK4_HUMAN pantothenate kinase 4 480 coenzyme A biosynthetic process cytoplasm ATP binding|pantothenate kinase activity breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4) 23 all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201) ACTTCTGCCGGAACTTCTCCG 0.627000 34 27 0 0 1 0 0 CDON 50937 broad.mit.edu 37 11 125875950 125875950 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:125875950G>A ENST00000392693.3 - 9 1682 c.1555C>T c.(1555-1557)Cct>Tct p.P519S CDON_ENST00000263577.7_Missense_Mutation_p.P519S NM_001243597.1|NM_016952.4 NP_001230526.1|NP_058648.4 Q4KMG0 CDON_HUMAN cell adhesion associated, oncogene regulated 519 cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation integral to membrane|plasma membrane protein binding breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 all_hematologic(175;0.177) Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604) GTTTCAAAAGGAACTGCAGGG 0.438000 14 33 0 0 1 0 0 AFMID 125061 broad.mit.edu 37 17 76202114 76202114 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:76202114G>A ENST00000409257.5 + 10 922 c.868G>A c.(868-870)Gac>Aac p.D290N AFMID_ENST00000589664.1_3'UTR|AFMID_ENST00000327898.5_Missense_Mutation_p.D295N|AFMID_ENST00000588800.1_3'UTR|AFMID_ENST00000591952.1_Intron NM_001010982.4|NM_001145526.2 NP_001010982.2|NP_001138998.1 Q63HM1 AFMID_HUMAN arylformamidase 290 cytosol|nucleus arylformamidase activity autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1) 19 BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134) GACCCAGAAGGACAACGTGCT 0.552000 6 31 0 0 1 0 0 ZNF189 7743 broad.mit.edu 37 9 104171026 104171026 + Nonsense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr9:104171026C>T ENST00000374861.3 + 3 1218 c.934C>T c.(934-936)Cga>Tga p.R312* ZNF189_ENST00000339664.2_Nonsense_Mutation_p.R326*|ZNF189_ENST00000259395.4_Nonsense_Mutation_p.R284* NM_001278231.1|NM_001278232.1|NM_003452.2 NP_001265160.1|NP_001265161.1|NP_003443.2 O75820 ZN189_HUMAN zinc finger protein 189 326 negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1) 26 Acute lymphoblastic leukemia(62;0.0559) GAAAGCCTTTCGATTAAGCAC 0.398000 86 18 0 0 1 0 0 ERMN 57471 broad.mit.edu 37 2 158177885 158177885 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:158177885G>A ENST00000410096.1 - 3 1044 c.753C>T c.(751-753)tcC>tcT p.S251S ERMN_ENST00000397283.2_Silent_p.S264S|ERMN_ENST00000535935.1_Silent_p.S145S|ERMN_ENST00000420719.2_Silent_p.S231S NM_020711.1 NP_065762.1 Q8TAM6 ERMIN_HUMAN ermin, ERM-like protein 251 cytoplasm|cytoskeleton endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1) 12 AAGCATTTCTGGAGATATCAC 0.428000 52 96 0 0 1 0 0 FRYL 285527 broad.mit.edu 37 4 48542846 48542846 + Missense_Mutation SNP T T A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr4:48542846T>A ENST00000358350.4 - 46 6423 c.5819A>T c.(5818-5820)aAc>aTc p.N1940I FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000537810.1_Missense_Mutation_p.N1940I|FRYL_ENST00000503238.1_Missense_Mutation_p.N1940I|FRYL_ENST00000264319.7_5'UTR NM_015030.1 NP_055845.1 O94915 FRYL_HUMAN FRY-like 1940 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 TCTCAAAGAGTTACTTCTTGC 0.413000 19 27 0 0 1 0 0 PFKP 5214 broad.mit.edu 37 10 3175453 3175453 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:3175453G>A ENST00000381075.2 + 21 2169 c.1945G>A c.(1945-1947)Gag>Aag p.E649K PFKP_ENST00000381072.1_Missense_Mutation_p.E75K|PFKP_ENST00000381125.4_Missense_Mutation_p.E657K NM_001242339.1 NP_001229268.1 Q01813 K6PP_HUMAN phosphofructokinase, platelet 657 glycolysis 6-phosphofructokinase complex 6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 31 GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142) GTATTCAGAAGAGGGCAAAGG 0.522000 70 117 0 0 1 0 0 PIP5K1A 8394 broad.mit.edu 37 1 151205158 151205158 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:151205158G>A ENST00000409426.1 + 6 1027 c.582G>A c.(580-582)aaG>aaA p.K194K PIP5K1A_ENST00000368888.4_Silent_p.K206K|PIP5K1A_ENST00000368890.4_Silent_p.K193K|PIP5K1A_ENST00000441902.2_Silent_p.K194K Q99755 PI51A_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type I, alpha 206 PIPK. phospholipid biosynthetic process|signal transduction endomembrane system|Golgi stack|lamellipodium|nuclear speck 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1) 5 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181) TTCTGCAGAAGCTGCTTCCAG 0.498000 9 41 0 0 1 0 0 ARHGAP21 57584 broad.mit.edu 37 10 24908777 24908777 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:24908777G>A ENST00000396432.2 - 9 2533 c.2047C>T c.(2047-2049)Ccc>Tcc p.P683S ARHGAP21_ENST00000320481.6_Missense_Mutation_p.P470S NM_020824.3 NP_065875.3 Q5T5U3 RHG21_HUMAN Rho GTPase activating protein 21 682 signal transduction cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane GTPase activator activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1) 78 GATAAAGAGGGGGATTTCCCA 0.483000 17 36 0 0 1 0 0 ZDHHC8 29801 broad.mit.edu 37 22 20129013 20129013 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr22:20129013C>T ENST00000334554.7 + 9 1226 c.1085C>T c.(1084-1086)cCc>cTc p.P362L ZDHHC8_ENST00000320602.7_Missense_Mutation_p.P270L|ZDHHC8_ENST00000468112.1_3'UTR|ZDHHC8_ENST00000405930.3_Missense_Mutation_p.P362L NM_013373.3 NP_037505.1 Q9ULC8 ZDHC8_HUMAN zinc finger, DHHC-type containing 8 362 cytoplasmic vesicle membrane|integral to membrane acyltransferase activity|zinc ion binding breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1) 20 Colorectal(54;0.0993) CCGGCTTTCCCCACGGGTCCC 0.657000 9 21 0 0 1 0 0 OR4C15 81309 broad.mit.edu 37 11 55321984 55321984 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:55321984G>A ENST00000314644.2 + 1 202 c.202G>A c.(202-204)Gga>Aga p.G68R NM_001001920.1 NP_001001920.1 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, member 15 14 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5) 56 TGTCCTCCTGGGACTTTCACA 0.383000 HNSCC(20;0.049) 55 79 0 0 1 0 0 SERPINA7 6906 broad.mit.edu 37 X 105279276 105279276 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:105279276C>T ENST00000327674.4 - 2 1058 c.723G>A c.(721-723)atG>atA p.M241I SERPINA7_ENST00000372563.1_Missense_Mutation_p.M241I P05543 THBG_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 241 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3) 24 Levothyroxine(DB00451)|Liothyronine(DB00279) AGTATTGTTCCATCTGGTGCA 0.458000 62 78 0 0 1 0 0 TMEM131 23505 broad.mit.edu 37 2 98382961 98382961 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:98382961C>T ENST00000186436.5 - 34 4781 c.4553G>A c.(4552-4554)cGa>cAa p.R1518Q NM_015348.1 NP_056163.1 Q92545 TM131_HUMAN transmembrane protein 131 1518 integral to membrane NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1) 57 CTGGGCATTTCGTGATTTGGA 0.388000 28 38 0 0 1 0 0 IRX4 50805 broad.mit.edu 37 5 1880923 1880923 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:1880923G>A ENST00000505790.1 - 4 779 c.323C>T c.(322-324)tCg>tTg p.S108L IRX4_ENST00000505938.1_5'UTR|IRX4_ENST00000231357.2_Missense_Mutation_p.S108L|IRX4_ENST00000513692.1_Missense_Mutation_p.S108L NM_001278634.1 NP_001265563.1 P78413 IRX4_HUMAN iroquois homeobox 4 108 heart development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|lung(7)|ovary(1)|prostate(1) 10 GBM - Glioblastoma multiforme(108;0.242) CGCAGATCCCGAACCATCCTT 0.632000 21 66 0 0 1 0 0 FOXO4 4303 broad.mit.edu 37 X 70316716 70316716 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:70316716C>T ENST00000374259.3 + 1 670 c.338C>T c.(337-339)gCc>gTc p.A113V FOXO4_ENST00000466874.1_3'UTR|FOXO4_ENST00000341558.3_Splice_Site_p.A58_splice NM_001170931.1|NM_005938.3 NP_001164402.1|NP_005929.2 P98177 FOXO4_HUMAN forkhead box O4 113 cell cycle arrest|cell differentiation|embryo development|G1 phase of mitotic cell cycle|insulin receptor signaling pathway|mitotic cell cycle G2/M transition DNA damage checkpoint|muscle organ development|negative regulation of angiogenesis|negative regulation of cell proliferation|negative regulation of smooth muscle cell differentiation|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|tissue development cytosol|transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1) 18 Renal(35;0.156) ATCAGCCAGGCCATTGAAAGC 0.587000 13 15 0 0 1 0 0 SLC43A1 8501 broad.mit.edu 37 11 57256729 57256729 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:57256729G>A ENST00000278426.3 - 12 1685 c.1330C>T c.(1330-1332)Ctc>Ttc p.L444F SLC43A1_ENST00000528450.1_Missense_Mutation_p.L444F NM_003627.5 NP_003618.1 O75387 LAT3_HUMAN solute carrier family 43 (amino acid system L transporter), member 1 444 cellular nitrogen compound metabolic process|ion transport integral to plasma membrane neutral amino acid transmembrane transporter activity breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 19 GGTACCTGGAGGTGTAAGTTG 0.562000 23 38 0 0 1 0 0 HSPA1L 3305 broad.mit.edu 37 6 31778766 31778766 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr6:31778766C>T ENST00000375654.4 - 2 1173 c.984G>A c.(982-984)atG>atA p.M328I HSPA1L_ENST00000417199.3_Missense_Mutation_p.M328I NM_005527.3 NP_005518.3 P34931 HS71L_HUMAN heat shock 70kDa protein 1-like 328 response to unfolded protein ATP binding breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 TAGCCTTATCCATCTTGGCAT 0.502000 21 12 0 0 1 0 0 MAGEB1 4112 broad.mit.edu 37 X 30269432 30269432 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:30269432G>A ENST00000378981.3 + 4 1143 c.822G>A c.(820-822)ccG>ccA p.P274P MAGEB1_ENST00000397550.1_Silent_p.P274P|MAGEB1_ENST00000397548.2_Silent_p.P274P NM_002363.4 NP_002354.2 P43366 MAGB1_HUMAN melanoma antigen family B, 1 274 MAGE. NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 32 TATGGGGTCCGAGAGCCTATG 0.502000 59 58 0 0 1 0 0 PSG2 5670 broad.mit.edu 37 19 43579506 43579506 + Splice_Site SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:43579506G>A ENST00000406487.1 - 3 807 c.709_splice c.e3+1 p.H237_splice NM_031246.3 NP_112536.2 P11465 PSG2_HUMAN pregnancy specific beta-1-glycoprotein 2 237 cell migration|female pregnancy extracellular region central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2) 49 Prostate(69;0.00682) AGATACTCACGGAGGAGATTC 0.532000 112 207 0 0 1 0 0 STK33 65975 broad.mit.edu 37 11 8435192 8435192 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:8435192C>T ENST00000447869.1 - 11 2112 c.1194G>A c.(1192-1194)atG>atA p.M398I STK33_ENST00000534493.1_Missense_Mutation_p.M357I|STK33_ENST00000473980.1_5'UTR|STK33_ENST00000358872.3_Missense_Mutation_p.M211I|STK33_ENST00000315204.1_Missense_Mutation_p.M398I|STK33_ENST00000396672.1_Missense_Mutation_p.M398I|STK33_ENST00000396673.1_Intron Q9BYT3 STK33_HUMAN serine/threonine kinase 33 398 Golgi apparatus|nucleus|perinuclear region of cytoplasm ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3) 23 Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239) TCCATTCCTTCATCATCTCTA 0.363000 41 49 0 0 1 0 0 LRP1 4035 broad.mit.edu 37 12 57606240 57606240 + Missense_Mutation SNP G G C TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:57606240G>C ENST00000243077.3 + 89 14003 c.13537G>C c.(13537-13539)Ggg>Cgg p.G4513R NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 4513 Interaction with MAFB (By similarity). aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) ACTCTACATGGGGGGCCATGG 0.642000 16 42 0 0 1 0 0 CEACAM7 1087 broad.mit.edu 37 19 42191006 42191006 + Missense_Mutation SNP C C T rs1049234 TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:42191006C>T ENST00000006724.3 - 2 412 c.211G>A c.(211-213)Gaa>Aaa p.E71K CEACAM7_ENST00000338196.4_Missense_Mutation_p.E71K|CEACAM7_ENST00000599715.1_5'UTR|CEACAM7_ENST00000401731.1_Missense_Mutation_p.E71K|CEACAM7_ENST00000602225.1_Missense_Mutation_p.E71K NM_006890.3 NP_008821.1 Q14002 CEAM7_HUMAN carcinoembryonic antigen-related cell adhesion molecule 7 71 Ig-like V-type. E -> Q (in Ref. 3; AAB62924/AAB62925). anchored to membrane|integral to membrane|plasma membrane breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366) TGCACCCTTTCCCCTTTGTAC 0.448000 46 107 0 0 1 0 0 CA14 23632 broad.mit.edu 37 1 150237006 150237006 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:150237006G>A ENST00000369111.4 + 11 1931 c.961G>A c.(961-963)Gaa>Aaa p.E321K NM_012113.1 NP_036245.1 Q9ULX7 CAH14_HUMAN carbonic anhydrase XIV 321 integral to membrane carbonate dehydratase activity|metal ion binding central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(2) 18 Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) GAAGAGGCTGGAAAACCGAAA 0.443000 16 24 0 0 1 0 0 CCDC63 160762 broad.mit.edu 37 12 111342495 111342495 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:111342495C>T ENST00000308208.5 + 11 1688 c.1446C>T c.(1444-1446)aaC>aaT p.N482N CCDC63_ENST00000552694.1_Silent_p.N403N|CCDC63_ENST00000545036.1_Silent_p.N442N NM_152591.1 NP_689804.1 Q8NA47 CCD63_HUMAN coiled-coil domain containing 63 482 NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1) 39 CCTTCATCAACCCTTTCTGGG 0.587000 39 90 0 0 1 0 0 FOSL2 2355 broad.mit.edu 37 2 28627145 28627145 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:28627145C>T ENST00000264716.4 + 2 1137 c.274C>T c.(274-276)Cct>Tct p.P92S FOSL2_ENST00000545753.1_Missense_Mutation_p.P53S|FOSL2_ENST00000379619.1_Missense_Mutation_p.P67S|FOSL2_ENST00000460736.1_3'UTR NM_005253.3 NP_005244.1 P15408 FOSL2_HUMAN FOS-like antigen 2 92 cell death|regulation of transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 14 Acute lymphoblastic leukemia(172;0.155) GGCCTCTGTCCCTGGACACAT 0.642000 54 82 0 0 1 0 0 EIF2B2 8892 broad.mit.edu 37 14 75475786 75475786 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr14:75475786C>T ENST00000266126.5 + 8 1031 c.951C>T c.(949-951)ccC>ccT p.P317P NM_014239.3 NP_055054.1 P49770 EI2BB_HUMAN eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa 317 cellular response to stimulus|myelination|oligodendrocyte development|ovarian follicle development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus cytosol|eukaryotic translation initiation factor 2B complex ATP binding|GTP binding|protein binding|translation initiation factor activity endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1) 11 BRCA - Breast invasive adenocarcinoma(234;0.00661) ACTACGTTCCCCCAGAGCTCA 0.488000 68 121 0 0 1 0 0 INO80 54617 broad.mit.edu 37 15 41348870 41348870 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr15:41348870G>A ENST00000361937.3 - 17 2444 c.2020C>T c.(2020-2022)Cgg>Tgg p.R674W INO80_ENST00000401393.3_Missense_Mutation_p.R674W Q9ULG1 INO80_HUMAN INO80 complex subunit 674 Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.|Helicase ATP-binding. cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair Ino80 complex|microtubule actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 AGCCGATTCCGACACTGGAAC 0.393000 61 117 0 0 1 0 0 HCRTR1 3061 broad.mit.edu 37 1 32089206 32089206 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:32089206G>A ENST00000403528.2 + 7 1206 c.821G>A c.(820-822)gGa>gAa p.G274E HCRTR1_ENST00000373706.5_Missense_Mutation_p.G274E|HCRTR1_ENST00000468521.1_3'UTR|HCRTR1_ENST00000373705.1_Missense_Mutation_p.G274E NM_001525.2 NP_001516.2 O43613 OX1R_HUMAN hypocretin (orexin) receptor 1 274 feeding behavior|neuropeptide signaling pathway|synaptic transmission integral to plasma membrane breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1) 7 Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116) STAD - Stomach adenocarcinoma(196;0.053) GGCCTGAGTGGAGAGCCCCAG 0.647000 27 18 0 0 1 0 0 LTF 4057 broad.mit.edu 37 3 46486873 46486873 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:46486873G>A ENST00000231751.4 - 12 1707 c.1412C>T c.(1411-1413)tCt>tTt p.S471F LTF_ENST00000417439.1_Missense_Mutation_p.S469F|LTF_ENST00000426532.2_Missense_Mutation_p.S427F NM_002343.3 NP_002334.2 P02788 TRFL_HUMAN lactotransferrin 471 Transferrin-like 2. cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport extracellular region|stored secretory granule ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 40 all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089) Pefloxacin(DB00487) GCCTTTCACAGAGTTCCAGGT 0.527000 23 49 0 0 1 0 0 XRRA1 143570 broad.mit.edu 37 11 74559421 74559421 + Missense_Mutation SNP A A C TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:74559421A>C ENST00000340360.6 - 15 1774 c.1443T>G c.(1441-1443)gaT>gaG p.D481E XRRA1_ENST00000321448.8_Missense_Mutation_p.D206E|XRRA1_ENST00000527087.1_Missense_Mutation_p.D394E NM_182969.2 NP_892014.1 Q6P2D8 XRRA1_HUMAN X-ray radiation resistance associated 1 481 response to X-ray cytoplasm|nucleus breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3) 20 GCTCTAGCATATCCTTTGAGG 0.547000 10 11 0 0 1 0 0 NLRC4 58484 broad.mit.edu 37 2 32475021 32475021 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:32475021C>T ENST00000404025.2 - 5 2400 c.1912G>A c.(1912-1914)Gag>Aag p.E638K NLRC4_ENST00000360906.5_Missense_Mutation_p.E638K|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000402280.1_Missense_Mutation_p.E638K Q9NPP4 NLRC4_HUMAN NLR family, CARD domain containing 4 638 activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis cytoplasm ATP binding|magnesium ion binding|protein homodimerization activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2) 16 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208) TCTGGGGCCTCTTCCATGTGG 0.498000 77 115 0 0 1 0 0 DRC1 92749 broad.mit.edu 37 2 26677573 26677573 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:26677573G>A ENST00000288710.2 + 15 2052 c.1978G>A c.(1978-1980)Gag>Aag p.E660K NM_145038.2 NP_659475.2 dynein regulatory complex subunit 1 homolog (Chlamydomonas) CAAGGACTCGGAGTACTGGCA 0.562000 40 59 0 0 1 0 0 COL21A1 81578 broad.mit.edu 37 6 56035551 56035551 + Missense_Mutation SNP G G C TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr6:56035551G>C ENST00000244728.5 - 5 1319 c.922C>G c.(922-924)Caa>Gaa p.Q308E COL21A1_ENST00000535941.1_Missense_Mutation_p.Q308E|COL21A1_ENST00000370819.1_Missense_Mutation_p.Q308E NM_030820.3 NP_110447.2 Q96P44 COLA1_HUMAN collagen, type XXI, alpha 1 308 TSP N-terminal. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2) 41 Lung NSC(77;0.0483) LUSC - Lung squamous cell carcinoma(124;0.181) ACTGCTATTTGTGGCCTTCCA 0.348000 3 11 0 0 1 0 0 OR2T4 127074 broad.mit.edu 37 1 248525838 248525838 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:248525838C>T ENST00000366475.1 + 1 956 c.956C>T c.(955-957)cCt>cTt p.P319L NM_001004696.1 NP_001004696.1 Q8NH00 OR2T4_HUMAN olfactory receptor, family 2, subfamily T, member 4 319 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47) 56 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GTGGTGAACCCTTTAATCTAT 0.458000 92 23 0 0 1 0 0 MAGEC3 139081 broad.mit.edu 37 X 140969434 140969434 + Missense_Mutation SNP A A G TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:140969434A>G ENST00000298296.1 + 4 761 c.761A>G c.(760-762)aAc>aGc p.N254S MAGEC3_ENST00000448920.1_Intron|MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000536088.1_Intron NM_138702.1 NP_619647.1 Q8TD91 MAGC3_HUMAN melanoma antigen family C, 3 254 MAGE 1. NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2) 69 Acute lymphoblastic leukemia(192;6.56e-05) GTCTTTGTAAACACATTAGAC 0.468000 77 143 0 0 1 0 0 MROH2B 133558 broad.mit.edu 37 5 41058287 41058287 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:41058287C>T ENST00000399564.4 - 7 1084 c.634G>A c.(634-636)Gcc>Acc p.A212T MROH2B_ENST00000506092.2_5'UTR NM_173489.4 NP_775760.3 maestro heat-like repeat family member 2B GGCCCGTGGGCCTTAACGATG 0.502000 8 14 0 0 1 0 0 SEMA3C 10512 broad.mit.edu 37 7 80546088 80546088 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:80546088G>A ENST00000265361.3 - 2 571 c.10C>T c.(10-12)Cgg>Tgg p.R4W SEMA3C_ENST00000419255.2_Missense_Mutation_p.R4W|SEMA3C_ENST00000536800.1_5'UTR|SEMA3C_ENST00000487621.1_5'UTR|SEMA3C_ENST00000544525.1_Missense_Mutation_p.R22W NM_006379.3 NP_006370.1 Q99985 SEM3C_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C 4 immune response|response to drug membrane receptor activity NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 CAAATTGTCCGGAATGCCATT 0.358000 46 58 0 0 1 0 0 DNAJC2 27000 broad.mit.edu 37 7 102963025 102963025 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:102963025G>A ENST00000379263.3 - 9 1116 c.866C>T c.(865-867)gCc>gTc p.A289V PMPCB_ENST00000420236.2_Intron|DNAJC2_ENST00000249270.7_Missense_Mutation_p.A289V NM_014377.1 NP_055192.1 Q99543 DNJC2_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 2 289 'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nuclear membrane chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1) 21 ttctttcttggctttttcttc 0.328000 9 14 0 0 1 0 0 FNBP1 23048 broad.mit.edu 37 9 132689581 132689581 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr9:132689581C>T ENST00000420781.1 - 8 900 c.682G>A c.(682-684)Gga>Aga p.G228R FNBP1_ENST00000446176.2_Missense_Mutation_p.G228R|FNBP1_ENST00000355681.3_Missense_Mutation_p.G228R Q96RU3 FNBP1_HUMAN formin binding protein 1 228 Interaction with microtubules (By similarity).|Self-association, lipid-binding and induction of membrane tubulation. endocytosis cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane identical protein binding|lipid binding Ovarian(14;0.000536) GBM - Glioblastoma multiforme(294;0.0378) ATGGACTCTCCCATTCTCACA 0.383000 T MLL AML 98 48 0 0 1 0 0 AMY2B 280 broad.mit.edu 37 1 104120437 104120437 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:104120437G>A ENST00000361355.4 + 11 1932 c.1316G>A c.(1315-1317)aGa>aAa p.R439K AMY2B_ENST00000491397.1_3'UTR NM_020978.3 NP_066188.1 P19961 AMY2B_HUMAN amylase, alpha 2B (pancreatic) 439 carbohydrate metabolic process|digestion extracellular region alpha-amylase activity|metal ion binding breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1) 46 all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451) Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112) AGAGGAAACAGAGGATTCATT 0.358000 82 99 0 0 1 0 0 CFB 629 broad.mit.edu 37 6 31910824 31910824 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr6:31910824C>T ENST00000456570.1 + 7 904 c.849C>T c.(847-849)gcC>gcT p.A283A CFB_ENST00000477310.1_Intron|C2_ENST00000299367.5_Silent_p.A436A|CFB_ENST00000556679.1_Silent_p.A283A|C2_ENST00000469372.1_Silent_p.A190A|C2_ENST00000442278.2_Silent_p.A304A|C2_ENST00000452323.2_Silent_p.A222A P00751 CFAB_HUMAN complement factor B 452 VWFA. complement activation, alternative pathway|proteolysis extracellular region|plasma membrane complement binding|serine-type endopeptidase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1) 21 AGAGGCATGCCTTCATTCTGC 0.557000 91 73 0 0 1 0 0 COL2A1 1280 broad.mit.edu 37 12 48372458 48372458 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:48372458G>A ENST00000380518.3 - 42 2981 c.2817C>T c.(2815-2817)ggC>ggT p.G939G COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Silent_p.G870G NM_001844.4|NM_033150.2 NP_001835.3|NP_149162.2 P02458 CO2A1_HUMAN collagen, type II, alpha 1 939 Triple-helical region. 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) CACCAGCTCGGCCAGGGGGGC 0.637000 18 31 0 0 1 0 0 UNC13C 440279 broad.mit.edu 37 15 54792341 54792341 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr15:54792341C>T ENST00000545554.1 + 20 5125 c.5125C>T c.(5125-5127)Cat>Tat p.H1709Y UNC13C_ENST00000260323.11_Missense_Mutation_p.H1709Y|UNC13C_ENST00000537900.1_Missense_Mutation_p.H1707Y Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 1709 MHD1. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) GGAATTCCTTCATGGAGCACT 0.348000 7 12 0 0 1 0 0 FAM135B 51059 broad.mit.edu 37 8 139160925 139160925 + Missense_Mutation SNP A A G TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:139160925A>G ENST00000395297.1 - 14 3456 c.3286T>C c.(3286-3288)Tat>Cat p.Y1096H NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 1096 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) TTGGCCTGATAAAAACTGGAG 0.388000 HNSCC(54;0.14) 16 20 0 0 1 0 0 CCDC87 55231 broad.mit.edu 37 11 66359329 66359329 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:66359329G>A ENST00000333861.3 - 1 1225 c.1158C>T c.(1156-1158)acC>acT p.T386T NM_018219.2 NP_060689.2 Q9NVE4 CCD87_HUMAN coiled-coil domain containing 87 386 central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 CTGGGTGACGGGTCACAACCC 0.607000 32 42 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 140997101 140997101 + Splice_Site SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:140997101C>T ENST00000389484.3 - 88 14296 c.13324_splice c.e88-1 p.R4442_splice NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 4442 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding 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) GGCAATGCTTCCTGGAaaata 0.313000 TSP Lung(27;0.18) 7 13 0 0 1 0 0 PCDHA4 56144 broad.mit.edu 37 5 140186794 140186794 + Missense_Mutation SNP G G C TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:140186794G>C ENST00000530339.1 + 1 22 c.22G>C c.(22-24)Ggc>Cgc p.G8R PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.G8R|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.G8R|PCDHA1_ENST00000394633.3_Intron NM_018907.2 NP_061730.1 breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGGGGAAGCGGCCAGGAATC 0.502000 43 72 0 0 1 0 0 DPYSL3 1809 broad.mit.edu 37 5 146798021 146798021 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:146798021G>A ENST00000343218.5 - 3 841 c.644C>T c.(643-645)aCc>aTc p.T215I DPYSL3_ENST00000398514.3_Missense_Mutation_p.T101I|DPYSL3_ENST00000534907.1_Intron NM_001197294.1 NP_001184223.1 Q14195 DPYL3_HUMAN dihydropyrimidinase-like 3 101 axon guidance|pyrimidine base catabolic process|signal transduction cytosol|growth cone dihydropyrimidinase activity breast(2)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 28 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GATCATGGTGGTGCCACCTGC 0.433000 76 103 0 0 1 0 0 PLVAP 83483 broad.mit.edu 37 19 17476587 17476587 + Missense_Mutation SNP G G T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:17476587G>T ENST00000252590.4 - 3 748 c.687C>A c.(685-687)gaC>gaA p.D229E NM_031310.1 NP_112600.1 Q9BX97 PLVAP_HUMAN plasmalemma vesicle associated protein 229 caveola|integral to membrane|perinuclear region of cytoplasm cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 ACTTGTCCTTGTCCAGGGGCA 0.577000 41 55 1.04594e-18 1.06637e-18 1 1 0 MYO1C 4641 broad.mit.edu 37 17 1387540 1387540 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:1387540G>A ENST00000359786.5 - 2 457 c.133C>T c.(133-135)Cgg>Tgg p.R45W MYO1C_ENST00000438665.2_Missense_Mutation_p.R26W|MYO1C_ENST00000575158.1_Missense_Mutation_p.R10W|MYO1C_ENST00000361007.2_Missense_Mutation_p.R10W|MYO1C_ENST00000545534.2_Missense_Mutation_p.R21W NM_001080779.1 NP_001074248.1 O00159 MYO1C_HUMAN myosin IC 45 Myosin head-like. mRNA transport|protein transport|transmembrane transport basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane actin binding|ATP binding|calmodulin binding|motor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) ACCCCCACCCGGTCACGGGCG 0.632000 14 26 0 0 1 0 0 SIRPA 140885 broad.mit.edu 37 20 1902301 1902301 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr20:1902301G>A ENST00000358771.4 + 3 849 c.697G>A c.(697-699)Gtc>Atc p.V233I SIRPA_ENST00000400068.3_Missense_Mutation_p.V233I|SIRPA_ENST00000356025.3_Missense_Mutation_p.V233I NM_001040023.1 NP_001035112.1 P78324 SHPS1_HUMAN signal-regulatory protein alpha 233 Ig-like C1-type 1. blood coagulation|cell adhesion|cell junction assembly|leukocyte migration integral to membrane|plasma membrane SH3 domain binding p.V233I(1) cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 21 Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556) GGTGGCCCACGTCACCTTGCA 0.617000 4 69 0 0 1 0 0 F5 2153 broad.mit.edu 37 1 169509869 169509869 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:169509869G>A ENST00000367796.3 - 13 4675 c.4474C>T c.(4474-4476)Ctt>Ttt p.L1492F F5_ENST00000367797.3_Missense_Mutation_p.L1487F P12259 FA5_HUMAN coagulation factor V (proaccelerin, labile factor) 1487 35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1) 128 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) ATCTGACCAAGGTCTGGATAA 0.398000 17 32 0 0 1 0 0 LRRTM4 80059 broad.mit.edu 37 2 77746081 77746081 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:77746081G>A ENST00000409088.3 - 3 1328 c.914C>T c.(913-915)tCc>tTc p.S305F LRRTM4_ENST00000409282.1_Missense_Mutation_p.S306F|LRRTM4_ENST00000409884.1_Missense_Mutation_p.S305F|LRRTM4_ENST00000409911.1_Missense_Mutation_p.S306F|LRRTM4_ENST00000409093.1_Missense_Mutation_p.S305F NM_024993.4 NP_079269.4 Q86VH4 LRRT4_HUMAN leucine rich repeat transmembrane neuronal 4 305 integral to membrane autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1) 64 Colorectal(11;0.059) CAATGTGATGGATATTAATGA 0.353000 11 16 0 0 1 0 0 MAGEC1 9947 broad.mit.edu 37 X 140996585 140996585 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:140996585C>T ENST00000285879.4 + 4 3681 c.3395C>T c.(3394-3396)tCc>tTc p.S1132F MAGEC1_ENST00000406005.2_Missense_Mutation_p.S199F NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 1132 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) AGTGCAAGCTCCAGTGTCATG 0.507000 HNSCC(15;0.026) 37 51 0 0 1 0 0 PGRMC2 10424 broad.mit.edu 37 4 129208548 129208548 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr4:129208548C>T ENST00000520121.1 - 1 1436 c.470G>A c.(469-471)gGc>gAc p.G157D PGRMC2_ENST00000512483.1_Intron|PGRMC2_ENST00000296425.5_Missense_Mutation_p.G133D NM_006320.4 NP_006311.2 progesterone receptor membrane component 2 GAACTTGCTGCCTTTGGTCAC 0.642000 12 17 0 0 1 0 0 DOCK8 81704 broad.mit.edu 37 9 406992 406992 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr9:406992C>T ENST00000432829.2 + 28 3565 c.3249C>T c.(3247-3249)tcC>tcT p.S1083S DOCK8_ENST00000469391.1_Silent_p.S1051S|DOCK8_ENST00000453981.1_Silent_p.S1151S|DOCK8_ENST00000382329.1_Silent_p.S618S NM_203447.3 NP_982272.2 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 1151 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 65 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) ATCTGACTTCCGAGTACCGCC 0.527000 105 26 0 0 1 0 0 RGS7 6000 broad.mit.edu 37 1 240964793 240964793 + Missense_Mutation SNP C C T rs141557672 byFrequency TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:240964793C>T ENST00000366565.1 - 17 1756 c.1375G>A c.(1375-1377)Gat>Aat p.D459N RGS7_ENST00000401882.1_Intron|RGS7_ENST00000348120.2_Intron|RGS7_ENST00000446183.2_Intron|RGS7_ENST00000407727.1_Missense_Mutation_p.D459N|RGS7_ENST00000366564.1_Intron|RGS7_ENST00000366562.4_Intron|RGS7_ENST00000366563.1_Intron|RGS7_ENST00000331110.7_Intron NM_002924.4 NP_002915.3 P49802 RGS7_HUMAN regulator of G-protein signaling 7 459 G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|protein binding|signal transducer activity breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(173;0.0131) OV - Ovarian serous cystadenocarcinoma(106;0.027) GTTCTGCGATCCATTGAGTTT 0.333000 17 4 0 0 1 0 0 MAPT 4137 broad.mit.edu 37 17 44051778 44051778 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:44051778G>A ENST00000344290.5 + 4 570 c.248G>A c.(247-249)gGa>gAa p.G83E MAPT_ENST00000574436.1_Missense_Mutation_p.G83E|MAPT_ENST00000571987.1_Missense_Mutation_p.G83E|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000535772.1_Missense_Mutation_p.G83E|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000431008.3_Missense_Mutation_p.G83E|MAPT_ENST00000576518.1_5'UTR|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000415613.2_Missense_Mutation_p.G83E|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000351559.5_Missense_Mutation_p.G83E|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000262410.5_Missense_Mutation_p.G83E|MAPT_ENST00000340799.5_Intron NM_001123066.3 NP_001116538.2 P10636 TAU_HUMAN microtubule-associated protein tau 83 cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 38 Melanoma(429;0.216) GTGGATGAGGGAGCTCCCGGC 0.622000 10 9 0 0 1 0 0 XCR1 2829 broad.mit.edu 37 3 46062478 46062478 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:46062478G>A ENST00000309285.3 - 2 1318 c.962C>T c.(961-963)tCc>tTc p.S321F XCR1_ENST00000542109.1_Missense_Mutation_p.S321F NM_001024644.1 NP_001019815.1 P46094 XCR1_HUMAN chemokine (C motif) receptor 1 321 chemotaxis|G-protein signaling, coupled to cyclic nucleotide second messenger|inflammatory response integral to plasma membrane chemokine receptor activity NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2) 14 BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203) GGCACCAGGGGAGTGGGGGAT 0.647000 6 13 0 0 1 0 0 MYO1C 4641 broad.mit.edu 37 17 1387541 1387541 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:1387541G>A ENST00000359786.5 - 2 456 c.132C>T c.(130-132)gaC>gaT p.D44D MYO1C_ENST00000438665.2_Silent_p.D25D|MYO1C_ENST00000575158.1_Silent_p.D9D|MYO1C_ENST00000361007.2_Silent_p.D9D|MYO1C_ENST00000545534.2_Silent_p.D20D NM_001080779.1 NP_001074248.1 O00159 MYO1C_HUMAN myosin IC 44 Myosin head-like. mRNA transport|protein transport|transmembrane transport basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane actin binding|ATP binding|calmodulin binding|motor activity breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) CCCCCACCCGGTCACGGGCGG 0.637000 14 26 0 0 1 0 0 NLRP11 204801 broad.mit.edu 37 19 56320538 56320538 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:56320538C>T ENST00000443188.1 - 5 2148 c.1438G>A c.(1438-1440)Gag>Aag p.E480K NLRP11_ENST00000360133.3_Missense_Mutation_p.E480K|NLRP11_ENST00000592953.1_Missense_Mutation_p.E381K|NLRP11_ENST00000589093.1_Missense_Mutation_p.E480K|NLRP11_ENST00000589824.2_Missense_Mutation_p.E480K NM_145007.3 NP_659444.2 P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 480 ATP binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 66 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) TCTCTCTTCTCTTTATACTCT 0.393000 30 61 0 0 1 0 0 A1BG 1 broad.mit.edu 37 19 58864480 58864480 + Missense_Mutation SNP G G A rs144181716 TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:58864480G>A ENST00000263100.3 - 3 215 c.154C>T c.(154-156)Cac>Tac p.H52Y A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000593960.1_RNA|A1BG-AS1_ENST00000595302.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000594950.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000599728.1_RNA NM_130786.3 NP_570602.2 P04217 A1BG_HUMAN alpha-1-B glycoprotein 52 Ig-like V-type 1. H -> R (in dbSNP:rs893184). extracellular region NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2) 15 all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269) GTCTCCAGGTGGGCCTGGCAC 0.602000 42 60 0 0 1 0 0 SLC7A1 6541 broad.mit.edu 37 13 30098369 30098369 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr13:30098369G>A ENST00000380752.5 - 6 1112 c.726C>T c.(724-726)ccC>ccT p.P242P NM_003045.4 NP_003036.1 P30825 CTR1_HUMAN solute carrier family 7 (cationic amino acid transporter, y+ system), member 1 242 cellular nitrogen compound metabolic process|ion transport integral to plasma membrane receptor activity endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2) 24 Lung SC(185;0.0257)|Breast(139;0.238) all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179) L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129) CACCAACACCGGGCTTCCCTT 0.547000 17 24 0 0 1 0 0 ALK 238 broad.mit.edu 37 2 29543630 29543630 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:29543630G>A ENST00000389048.3 - 7 2439 c.1533C>T c.(1531-1533)ttC>ttT p.F511F ALK_ENST00000431873.1_Intron NM_004304.4 NP_004295.2 Q9UM73 ALK_HUMAN anaplastic lymphoma receptor tyrosine kinase 511 MAM 2. protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9) NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2) 340 Acute lymphoblastic leukemia(172;0.155) Adenosine triphosphate(DB00171) GGTGGTCCTGGAACCGGGCAT 0.557000 """T, Mis, A""" """NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22""" """ALCL, NSCLC, Neuroblastoma""" neuroblastoma Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 68 126 0 0 1 0 0 MCM3AP 8888 broad.mit.edu 37 21 47692669 47692669 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr21:47692669G>A ENST00000397708.1 - 9 2525 c.2271C>T c.(2269-2271)caC>caT p.H757H MCM3AP_ENST00000291688.1_Silent_p.H757H O60318 MCM3A_HUMAN minichromosome maintenance complex component 3 associated protein 757 DNA replication|protein import into nucleus cytosol|nucleus DNA binding|nucleotide binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 72 Breast(49;0.112) AGTGGGCACAGTGGATGTGAA 0.552000 64 33 0 0 1 0 0 GABARAPL3 23766 broad.mit.edu 37 15 90892083 90892083 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr15:90892083C>T ENST00000412799.2 - 1 586 c.347G>A c.(346-348)gGg>gAg p.G116E CACTCATTTCCCATAGACACT 0.527000 3 13 0 0 1 0 0 MAP4K3 8491 broad.mit.edu 37 2 39552765 39552765 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:39552765G>A ENST00000263881.3 - 12 1136 c.812C>T c.(811-813)cCt>cTt p.P271L MAP4K3_ENST00000536018.1_5'UTR|MAP4K3_ENST00000437545.1_Missense_Mutation_p.P208L|MAP4K3_ENST00000341681.5_Missense_Mutation_p.P271L NM_003618.3 NP_003609.2 Q8IVH8 M4K3_HUMAN mitogen-activated protein kinase kinase kinase kinase 3 271 Protein kinase. JNK cascade ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 all_hematologic(82;0.211) TGTTACAAAAGGATGCTATAA 0.289000 17 31 0 0 1 0 0 SI 6476 broad.mit.edu 37 3 164735571 164735571 + Missense_Mutation SNP A A G TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:164735571A>G ENST00000264382.3 - 30 3673 c.3611T>C c.(3610-3612)gTt>gCt p.V1204A NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 1204 Sucrase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) CTTTGTTGCAACTTCTGGAGT 0.333000 HNSCC(35;0.089) 13 24 0 0 1 0 0 HCFC1 3054 broad.mit.edu 37 X 153220649 153220649 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:153220649C>T ENST00000310441.7 - 17 4167 c.3201G>A c.(3199-3201)caG>caA p.Q1067Q HCFC1_ENST00000369984.4_Silent_p.Q1067Q|HCFC1_ENST00000354233.3_Silent_p.Q998Q NM_005334.2 NP_005325.2 P51610 HCFC1_HUMAN host cell factor C1 (VP16-accessory protein) 1067 cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CGCTACCATTCTGCTGGCCCA 0.642000 38 56 0 0 1 0 0 KCNU1 157855 broad.mit.edu 37 8 36793292 36793292 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:36793292C>T ENST00000399881.3 + 27 3341 c.3304C>T c.(3304-3306)Cct>Tct p.P1102S NM_001031836.2 NP_001027006.2 A8MYU2 KCNU1_HUMAN potassium channel, subfamily U, member 1 1102 voltage-gated potassium channel complex binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1) 57 KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634) CCTCTCTTTTCCTAAGCAAAT 0.373000 48 65 0 0 1 0 0 CXCL16 58191 broad.mit.edu 37 17 4638418 4638418 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:4638418C>T ENST00000293778.6 - 4 1166 c.744G>A c.(742-744)agG>agA p.R248R CXCL16_ENST00000576153.1_5'UTR|CXCL16_ENST00000574412.1_Silent_p.R248R NM_022059.2 NP_071342.2 Q9H2A7 CXL16_HUMAN chemokine (C-X-C motif) ligand 16 229 lymphocyte chemotaxis|positive regulation of cell growth|positive regulation of cell migration|receptor-mediated endocytosis|response to interferon-gamma|response to tumor necrosis factor extracellular space|integral to membrane|plasma membrane chemokine activity|low-density lipoprotein receptor activity|scavenger receptor activity large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 5 GCCCCCTCCTCCTCTTGCACA 0.612000 24 21 0 0 1 0 0 SEC14L1 6397 broad.mit.edu 37 17 75199689 75199689 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:75199689G>A ENST00000413679.2 + 10 1350 c.1047G>A c.(1045-1047)atG>atA p.M349I SEC14L1_ENST00000430767.4_Missense_Mutation_p.M349I|SEC14L1_ENST00000443798.4_Missense_Mutation_p.M349I|SEC14L1_ENST00000585618.1_Missense_Mutation_p.M349I|SEC14L1_ENST00000436233.4_Missense_Mutation_p.M349I|SEC14L1_ENST00000431431.2_Missense_Mutation_p.M315I|SEC14L1_ENST00000392476.2_Missense_Mutation_p.M349I|SEC14L1_ENST00000591437.1_Missense_Mutation_p.M315I NM_001143998.1|NM_001143999.1|NM_003003.3 NP_001137470.1|NP_001137471.1|NP_002994.3 Q92503 S14L1_HUMAN SEC14-like 1 (S. cerevisiae) 349 CRAL-TRIO. transport Golgi apparatus|integral to membrane binding NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2) 31 TGGGGCAGATGGACACCAAAG 0.587000 6 15 0 0 1 0 0 IRS4 8471 broad.mit.edu 37 X 107979238 107979238 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:107979238C>T ENST00000372129.2 - 1 413 c.337G>A c.(337-339)Gaa>Aaa p.E113K NM_003604.2 NP_003595.1 O14654 IRS4_HUMAN insulin receptor substrate 4 113 PH. plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1) 78 CTGGCATTTTCGTAGTATTCC 0.667000 45 61 0 0 1 0 0 PCDHGA8 9708 broad.mit.edu 37 5 140773134 140773134 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:140773134C>T ENST00000398604.2 + 1 754 c.754C>T c.(754-756)Ctt>Ttt p.L252F PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron NM_032088.1 NP_114477.1 endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 51 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGTGAAAGTCCTTGAGAACAT 0.522000 37 73 0 0 1 0 0 ITGA5 3678 broad.mit.edu 37 12 54795370 54795370 + Splice_Site SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:54795370C>T ENST00000293379.4 - 23 2647 c.2387_splice c.e23+1 p.G796_splice RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA NM_002205.2 NP_002196.2 P08648 ITA5_HUMAN integrin, alpha 5 (fibronectin receptor, alpha polypeptide) 796 angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding p.G796C(1) NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 34 GGCACTGACCCGTTCAGGGTG 0.562000 59 91 0 0 1 0 0 MAP3K10 4294 broad.mit.edu 37 19 40704301 40704301 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:40704301C>T ENST00000253055.3 + 2 990 c.702C>T c.(700-702)atC>atT p.I234I MAP3K10_ENST00000593906.1_3'UTR NM_002446.3 NP_002437.2 Q02779 M3K10_HUMAN mitogen-activated protein kinase kinase kinase 10 234 Protein kinase. activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway cytoplasm ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 24 TGGAGGCCATCGAGAACCACA 0.637000 20 31 0 0 1 0 0 RANGAP1 5905 broad.mit.edu 37 22 41652030 41652030 + Silent SNP G G A rs150178245 byFrequency TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr22:41652030G>A ENST00000455915.2 - 9 2537 c.1068C>T c.(1066-1068)tcC>tcT p.S356S RANGAP1_ENST00000356244.3_Silent_p.S356S|RANGAP1_ENST00000407260.4_Silent_p.S301S|RANGAP1_ENST00000405486.1_Silent_p.S356S P46060 RAGP1_HUMAN Ran GTPase activating protein 1 356 mitotic prometaphase|signal transduction condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole protein binding|Ran GTPase activator activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 CCTACCTGAGGGACGCCAGCA 0.577000 23 28 0 0 1 0 0 SLC12A6 9990 broad.mit.edu 37 15 34542830 34542830 + Splice_Site SNP A A C TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr15:34542830A>C ENST00000354181.3 - 12 2084 c.e12+1 SLC12A6_ENST00000458406.2_Splice_Site|SLC12A6_ENST00000397702.2_Splice_Site|SLC12A6_ENST00000397707.2_Splice_Site|SLC12A6_ENST00000290209.5_Splice_Site|SLC12A6_ENST00000558667.1_Splice_Site|SLC12A6_ENST00000451844.2_Splice_Site|SLC12A6_ENST00000560611.1_Splice_Site|SLC12A6_ENST00000558589.1_Splice_Site|SLC12A6_ENST00000560164.1_Splice_Site Q9UHW9 S12A6_HUMAN solute carrier family 12 (potassium/chloride transporter), member 6 angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport basolateral plasma membrane|integral to membrane potassium:chloride symporter activity central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3) 45 all_lung(180;2.78e-08) all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301) Potassium Chloride(DB00761) TAAAAAGGATACAAACAAAGG 0.408000 12 44 0 0 1 0 0 OR51G1 79324 broad.mit.edu 37 11 4945214 4945214 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:4945214G>A ENST00000321961.2 - 1 423 c.356C>T c.(355-357)tCc>tTc p.S119F MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001005237.1 NP_001005237.1 Q8NGK1 O51G1_HUMAN olfactory receptor, family 51, subfamily G, member 1 119 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1) 25 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19) AATGGACATGGATAACAGAAC 0.493000 22 37 0 0 1 0 0 CEP95 90799 broad.mit.edu 37 17 62521962 62521962 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:62521962C>T ENST00000556440.2 + 9 1494 c.984C>T c.(982-984)gtC>gtT p.V328V CEP95_ENST00000553412.1_Silent_p.V164V NM_138363.1 NP_612372.1 Q96GE4 CEP95_HUMAN centrosomal protein 95kDa 328 centrosome|spindle pole protein binding endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1) 13 CAGCTCAGGTCCAAGGGCCTA 0.393000 4 22 0 0 1 0 0 ZMAT1 84460 broad.mit.edu 37 X 101139505 101139505 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:101139505C>T ENST00000458570.1 - 9 1711 c.381G>A c.(379-381)aaG>aaA p.K127K ZMAT1_ENST00000372782.3_Silent_p.K298K|ZMAT1_ENST00000540921.1_Silent_p.K298K|ZMAT1_ENST00000494068.1_5'UTR A7MD47 A7MD47_HUMAN zinc finger, matrin-type 1 127 nucleus zinc ion binding endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 22 CATATGTCTTCTTTGAATGAG 0.378000 50 118 0 0 1 0 0 ERBB3 2065 broad.mit.edu 37 12 56491581 56491581 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:56491581C>T ENST00000267101.3 + 21 2913 c.2473C>T c.(2473-2475)Ctt>Ttt p.L825F ERBB3_ENST00000450146.2_Missense_Mutation_p.L182F|ERBB3_ENST00000415288.2_Missense_Mutation_p.L766F|ERBB3_ENST00000553131.1_Missense_Mutation_p.L66F NM_001982.3 NP_001973.2 P21860 ERBB3_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3 825 Protein kinase. cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) AATGTACTACCTTGAGGAACA 0.483000 46 106 0 0 1 0 0 CCDC147 159686 broad.mit.edu 37 10 106118284 106118284 + Silent SNP A A G TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:106118284A>G ENST00000369704.3 + 2 329 c.195A>G c.(193-195)agA>agG p.R65R CCDC147_ENST00000312902.5_5'UTR NM_001008723.1 NP_001008723.1 Q5T655 CC147_HUMAN coiled-coil domain containing 147 65 NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 52 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189) CCAAATGCAGAGAGCTAAATG 0.428000 18 34 0 0 1 0 0 TBC1D10B 26000 broad.mit.edu 37 16 30376483 30376483 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr16:30376483G>A ENST00000409939.3 - 3 1187 c.1107C>T c.(1105-1107)gcC>gcT p.A369A NM_015527.3 NP_056342.3 Q4KMP7 TB10B_HUMAN TBC1 domain family, member 10B 369 Rab-GAP TBC. cytoplasm Rab GTPase activator activity endometrium(2)|kidney(1)|lung(2)|urinary_tract(1) 6 Colorectal(24;0.193) GGTACTGCCAGGCTTTGGCTC 0.587000 22 34 0 0 1 0 0 SP100 6672 broad.mit.edu 37 2 231380100 231380100 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:231380100C>T ENST00000264052.5 + 25 2740 c.2385C>T c.(2383-2385)tcC>tcT p.S795S SP100_ENST00000340126.4_Intron NM_003113.3 NP_003104.2 P23497 SP100_HUMAN SP100 nuclear antigen 795 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon cytoplasm|nuclear periphery|nucleolus|PML body chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1) 25 Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) CTGGCCTGTCCATTGATGATG 0.463000 21 22 0 0 1 0 0 HMGCS2 3158 broad.mit.edu 37 1 120306990 120306990 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:120306990C>T ENST00000369406.3 - 2 413 c.364G>A c.(364-366)Gac>Aac p.D122N HMGCS2_ENST00000544913.2_Missense_Mutation_p.D122N|HMGCS2_ENST00000476640.1_5'UTR NM_005518.3 NP_005509.1 P54868 HMCS2_HUMAN 3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial) 122 acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process mitochondrial matrix hydroxymethylglutaryl-CoA synthase activity NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 28 all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219) all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124) Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595) CCCACAGAGTCCCATGGGAGC 0.552000 23 72 0 0 1 0 0 GPR107 57720 broad.mit.edu 37 9 132891023 132891023 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr9:132891023C>T ENST00000372406.1 + 19 2196 c.1689C>T c.(1687-1689)gaC>gaT p.D563D GPR107_ENST00000372410.3_Silent_p.D534D|GPR107_ENST00000347136.6_Silent_p.D515D NM_001136557.1 NP_001130029.1 Q5VW38 GP107_HUMAN G protein-coupled receptor 107 563 integral to membrane endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 11 Ovarian(14;0.000531) AAGAAGAAGACTTGGAAATGG 0.483000 80 27 0 0 1 0 0 UTP14A 10813 broad.mit.edu 37 X 129063382 129063382 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:129063382C>T ENST00000394422.3 + 15 2142 c.2114C>T c.(2113-2115)tCc>tTc p.S705F UTP14A_ENST00000371042.3_Missense_Mutation_p.S537F|RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000371051.5_Missense_Mutation_p.S651F|UTP14A_ENST00000425117.2_Missense_Mutation_p.S653F NM_006649.3 NP_006640.2 Q9BVJ6 UT14A_HUMAN UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast) 705 rRNA processing nucleolus|small-subunit processome protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1) 32 CCCATAGGATCCACATGGAAC 0.488000 50 99 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56494202 56494202 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr6:56494202G>A ENST00000370754.5 - 31 4221 c.4222C>T c.(4222-4224)Cat>Tat p.H1408Y DST_ENST00000244364.6_Missense_Mutation_p.H904Y|DST_ENST00000312431.6_Missense_Mutation_p.H1230Y|DST_ENST00000361203.3_Missense_Mutation_p.H1230Y|DST_ENST00000518935.1_Missense_Mutation_p.H904Y|DST_ENST00000421834.2_Missense_Mutation_p.H1230Y|DST_ENST00000446842.2_Missense_Mutation_p.H904Y|DST_ENST00000370769.4_Missense_Mutation_p.H1230Y|DST_ENST00000370765.6_Missense_Mutation_p.H904Y|DST_ENST00000370788.2_Missense_Mutation_p.H1230Y Q03001 DYST_HUMAN dystonin 1230 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) TCTAAGGCATGGAATACCTGT 0.338000 15 52 0 0 1 0 0 TMPPE 643853 broad.mit.edu 37 3 33135676 33135676 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:33135676G>A ENST00000342462.4 - 2 202 c.12C>T c.(10-12)ttC>ttT p.F4F GLB1_ENST00000445488.2_Intron|TMPPE_ENST00000416695.2_Intron|GLB1_ENST00000399402.3_Intron|GLB1_ENST00000307363.5_Intron|GLB1_ENST00000307377.8_Intron NM_001039770.2 NP_001034859.2 Q6ZT21 TMPPE_HUMAN transmembrane protein with metallophosphoesterase domain 4 integral to membrane metal ion binding breast(1)|large_intestine(5)|lung(6)|prostate(1) 13 ACAGCTGCCTGAAGATGGCCA 0.572000 25 41 0 0 1 0 0 VEGFC 7424 broad.mit.edu 37 4 177608422 177608422 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr4:177608422G>A ENST00000280193.2 - 6 1479 c.1064C>T c.(1063-1065)cCt>cTt p.P355L RP11-313E19.2_ENST00000504017.1_RNA|RP11-313E19.2_ENST00000509194.1_RNA NM_005429.2 NP_005420.1 P49767 VEGFC_HUMAN vascular endothelial growth factor C 355 4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C. 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 p.P355H(1) 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) ACATTTTCCAGGATTTAGGGG 0.438000 42 114 0 0 1 0 0 PTK2B 2185 broad.mit.edu 37 8 27312077 27312077 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:27312077C>T ENST00000397501.1 + 35 3571 c.2763C>T c.(2761-2763)atC>atT p.I921I PTK2B_ENST00000517339.1_Silent_p.I879I|PTK2B_ENST00000420218.2_Silent_p.I879I|PTK2B_ENST00000338238.4_Silent_p.I879I|PTK2B_ENST00000346049.5_Silent_p.I921I|PTK2B_ENST00000544172.1_Silent_p.I921I NM_173174.2 NP_775266.1 Q14289 FAK2_HUMAN protein tyrosine kinase 2 beta 921 Focal adhesion targeting (FAT).|Interaction with TGFB1I1 (By similarity). apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity p.I921I(2) breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Ovarian(32;2.72e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229) GGAAGCTCATCGGGAGCGTGG 0.597000 16 18 0 0 1 0 0 CERCAM 51148 broad.mit.edu 37 9 131191230 131191230 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr9:131191230C>T ENST00000372842.1 + 9 3895 c.751C>T c.(751-753)Cgc>Tgc p.R251C CERCAM_ENST00000372838.4_Missense_Mutation_p.R329C Q5T4B2 GT253_HUMAN cerebral endothelial cell adhesion molecule 329 cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process endoplasmic reticulum lumen|plasma membrane endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2) 20 CAGCCTGGCTCGCAGGCCTGA 0.652000 9 2 0 0 1 0 0 CREBBP 1387 broad.mit.edu 37 16 3781358 3781358 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr16:3781358G>A ENST00000262367.5 - 30 5816 c.5007C>T c.(5005-5007)acC>acT p.T1669T CREBBP_ENST00000382070.3_Silent_p.T1631T NM_004380.2 NP_004371.2 Q92793 CBP_HUMAN CREB binding protein 1669 Interaction with TRERF1. cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) CTCTGGCGAGGGTGAGGAAGG 0.662000 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 5 10 0 0 1 0 0 COL9A1 1297 broad.mit.edu 37 6 70993476 70993476 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr6:70993476C>T ENST00000357250.6 - 6 902 c.744G>A c.(742-744)agG>agA p.R248R COL9A1_ENST00000370496.3_Silent_p.R248R NM_001851.4 NP_001842.3 P20849 CO9A1_HUMAN collagen, type IX, alpha 1 248 Nonhelical region (NC4). axon guidance|cell adhesion|organ morphogenesis collagen type IX metal ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4) 80 AAGTTTCTCTCCTGGGCCGCA 0.527000 9 3 0 0 1 0 0 NLRP6 171389 broad.mit.edu 37 11 280493 280493 + Silent SNP C C A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:280493C>A ENST00000534750.1 + 4 964 c.759C>A c.(757-759)atC>atA p.I253I NLRP6_ENST00000312165.5_Silent_p.I253I NM_001276700.1 NP_001263629.1 P59044 NALP6_HUMAN NLR family, pyrin domain containing 6 253 NACHT. cytoplasm ATP binding breast(1)|skin(1)|upper_aerodigestive_tract(2) 4 all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122) CTGACCTGATCCTGGACCAGT 0.731000 8 11 0.000442599 0.000443662 1 1 0 ZNF106 64397 broad.mit.edu 37 15 42731746 42731746 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr15:42731746G>A ENST00000263805.4 - 8 4286 c.3960C>T c.(3958-3960)acC>acT p.T1320T ZNF106_ENST00000565611.1_Silent_p.T505T|ZNF106_ENST00000565380.1_Silent_p.T548T NM_022473.1 NP_071918.1 zinc finger protein 106 TCTCCAAAGGGGTTTCTGAAG 0.453000 26 52 0 0 1 0 0 HOXB3 3213 broad.mit.edu 37 17 46628270 46628270 + Missense_Mutation SNP A A C TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:46628270A>C ENST00000470495.1 - 2 2169 c.722T>G c.(721-723)aTg>aGg p.M241R HOXB3_ENST00000311626.4_Missense_Mutation_p.M241R|HOXB3_ENST00000472863.1_Missense_Mutation_p.M168R|HOXB3_ENST00000476342.1_Missense_Mutation_p.M241R|HOXB3_ENST00000485909.2_Missense_Mutation_p.M109R|HOXB3_ENST00000460160.1_Missense_Mutation_p.M109R|HOXB-AS1_ENST00000502764.2_RNA|HOXB3_ENST00000490677.1_Missense_Mutation_p.M107R|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS1_ENST00000508688.1_RNA|HOXB-AS1_ENST00000435312.1_RNA|HOXB3_ENST00000498678.1_Missense_Mutation_p.M241R|HOXB3_ENST00000489475.1_Missense_Mutation_p.M168R P14651 HXB3_HUMAN homeobox B3 241 angiogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1) 30 CTTGTACTTCATGCGCCGGTT 0.637000 OREG0024516 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 49 82 0 0 1 0 0 MMP20 9313 broad.mit.edu 37 11 102465488 102465488 + Splice_Site SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:102465488C>T ENST00000260228.2 - 7 966 c.953_splice c.e7-1 p.R318_splice MMP20_ENST00000544938.1_5'UTR NM_004771.3 NP_004762.2 O60882 MMP20_HUMAN matrix metallopeptidase 20 318 Hemopexin-like 1. proteolysis|regulation of enamel mineralization extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033) Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13) BRCA - Breast invasive adenocarcinoma(274;0.0161) TCCAGAAAATCCTATGGGACA 0.418000 9 19 0 0 1 0 0 KIAA0430 9665 broad.mit.edu 37 16 15715623 15715623 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr16:15715623G>A ENST00000396368.3 - 12 2812 c.2606C>T c.(2605-2607)aCc>aTc p.T869I KIAA0430_ENST00000551742.1_Missense_Mutation_p.T869I|KIAA0430_ENST00000602337.1_Missense_Mutation_p.T866I|KIAA0430_ENST00000540441.2_Missense_Mutation_p.T704I|KIAA0430_ENST00000548025.1_Missense_Mutation_p.T866I|KIAA0430_ENST00000344181.3_Missense_Mutation_p.T538I NM_001184998.1|NM_001184999.1|NM_014647.3 NP_001171927.1|NP_001171928.1|NP_055462.2 Q9Y4F3 LKAP_HUMAN KIAA0430 868 RRM. peroxisome nucleotide binding|RNA binding breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1) 40 GGCAGCCCCGGTGGCAAGTGA 0.413000 26 33 0 0 1 0 0 CDH10 1008 broad.mit.edu 37 5 24535388 24535388 + Splice_Site SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:24535388C>T ENST00000264463.4 - 5 1154 c.646_splice c.e5-1 p.G216_splice NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 216 Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) CCTGATGATACCTTGAGAAAA 0.368000 HNSCC(23;0.051) 18 36 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179596985 179596985 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:179596985G>A ENST00000589042.1 - 57 16935 c.16711C>T c.(16711-16713)Cct>Tct p.P5571S TTN_ENST00000342992.6_Missense_Mutation_p.P4327S|TTN_ENST00000591111.1_Missense_Mutation_p.P5254S|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 5254 Ig-like 36. 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) TTAATTGGAGGGGTACCAGTT 0.428000 35 88 0 0 1 0 0 TMEM190 147744 broad.mit.edu 37 19 55889466 55889466 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:55889466C>T ENST00000291934.3 + 5 447 c.429C>T c.(427-429)agC>agT p.S143S CTD-2105E13.15_ENST00000595064.1_RNA NM_139172.1 NP_631911.1 Q8WZ59 TM190_HUMAN transmembrane protein 190 143 integral to membrane large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 5 Breast(117;0.191) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.044) CCACGGGCAGCGTGCCAGTCG 0.647000 20 32 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179600389 179600389 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:179600389G>A ENST00000589042.1 - 50 15008 c.14784C>T c.(14782-14784)ctC>ctT p.L4928L TTN_ENST00000342992.6_Silent_p.L3684L|TTN_ENST00000591111.1_Silent_p.L4611L|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 4611 Ig-like 29. 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) TCCCTGGGGGGAGTTTTTGCC 0.428000 19 30 0 0 1 0 0 TMEM132A 54972 broad.mit.edu 37 11 60694842 60694842 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:60694842G>A ENST00000005286.4 + 2 420 c.267G>A c.(265-267)agG>agA p.R89R TMEM132A_ENST00000453848.2_Silent_p.R89R NM_017870.3|NM_178031.2 NP_060340.2|NP_821174.1 Q24JP5 T132A_HUMAN transmembrane protein 132A 89 endoplasmic reticulum membrane|Golgi membrane|integral to membrane breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3) 32 CCTGGCCCAGGGCCCAGCCAC 0.632000 39 80 0 0 1 0 0 OR8S1 341568 broad.mit.edu 37 12 48919588 48919588 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:48919588C>T ENST00000310194.1 + 1 174 c.174C>T c.(172-174)ccC>ccT p.P58P OR8S1_ENST00000551654.1_Intron NM_001005203.2 NP_001005203.2 Q8NH09 OR8S1_HUMAN olfactory receptor, family 8, subfamily S, member 1 58 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4) 22 TCCATAAGCCCATGTATTTCT 0.473000 42 80 0 0 1 0 0 COL25A1 84570 broad.mit.edu 37 4 109740457 109740457 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr4:109740457C>T ENST00000399132.1 - 36 2404 c.1874G>A c.(1873-1875)gGg>gAg p.G625E NM_198721.2 NP_942014.1 Q9BXS0 COPA1_HUMAN collagen, type XXV, alpha 1 625 Collagen-like 7. collagen|extracellular space beta-amyloid binding|heparin binding NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 49 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.000173) GCCTGGCTCCCCTTTTTCCCC 0.458000 27 23 0 0 1 0 0 TNPO2 30000 broad.mit.edu 37 19 12817450 12817450 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:12817450G>A ENST00000425528.1 - 14 1787 c.1430C>T c.(1429-1431)cCc>cTc p.P477L TNPO2_ENST00000592287.1_Missense_Mutation_p.P477L|TNPO2_ENST00000356861.5_Missense_Mutation_p.P477L|TNPO2_ENST00000441499.1_Missense_Mutation_p.P477L|TNPO2_ENST00000588216.1_Missense_Mutation_p.P477L|TNPO2_ENST00000450764.2_Missense_Mutation_p.P477L O14787 TNPO2_HUMAN transportin 2 477 intracellular protein transport cytoplasm|nucleus nuclear localization sequence binding|protein binding|protein transporter activity autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 TGTCATCAGGGGCTTGAGGTG 0.632000 15 25 0 0 1 0 0 AUH 549 broad.mit.edu 37 9 93983201 93983201 + Silent SNP G G A rs146636009 TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr9:93983201G>A ENST00000375731.4 - 7 752 c.729C>T c.(727-729)ctC>ctT p.L243L AUH_ENST00000303617.5_Silent_p.L214L NM_001698.2 NP_001689.1 Q13825 AUHM_HUMAN AU RNA binding protein/enoyl-CoA hydratase 243 branched chain family amino acid catabolic process|mRNA catabolic process mitochondrial matrix enoyl-CoA hydratase activity|methylglutaconyl-CoA hydratase activity|mRNA 3'-UTR binding endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1) 11 CTTTGCCATCGAGGACTCGCG 0.582000 60 35 0 0 1 0 0 KIAA0319L 79932 broad.mit.edu 37 1 35907888 35907888 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:35907888G>A ENST00000325722.3 - 19 3063 c.2829C>T c.(2827-2829)gcC>gcT p.A943A KIAA0319L_ENST00000485551.1_5'UTR|KIAA0319L_ENST00000373266.4_Silent_p.A380A NM_024874.4 NP_079150.3 Q8IZA0 K319L_HUMAN KIAA0319-like 943 cytoplasmic vesicle part|integral to membrane protein binding breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1) 34 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) GGATTCCCAAGGCAACAACAA 0.448000 40 89 0 0 1 0 0 PCDHB4 56131 broad.mit.edu 37 5 140501985 140501985 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:140501985G>A ENST00000194152.1 + 1 405 c.405G>A c.(403-405)agG>agA p.R135R NM_018938.2 NP_061761.1 Q9Y5E5 PCDB4_HUMAN 135 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCCCTGAAAGGGAAGTGCTCT 0.408000 32 53 0 0 1 0 0 CEACAM6 4680 broad.mit.edu 37 19 42260761 42260761 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:42260761C>T ENST00000199764.6 + 2 536 c.318C>T c.(316-318)tcC>tcT p.S106S CEA_ENST00000598976.1_Intron NM_002483.4 NP_002474.3 P40199 CEAM6_HUMAN carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen) 106 Ig-like V-type. cell-cell signaling|signal transduction anchored to membrane|integral to plasma membrane breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797) CCAATGCATCCCTGCTGATCC 0.463000 113 184 0 0 1 0 0 CEP192 55125 broad.mit.edu 37 18 13067879 13067879 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr18:13067879G>A ENST00000506447.1 + 22 4618 c.4538G>A c.(4537-4539)gGa>gAa p.G1513E CEP192_ENST00000325971.8_Missense_Mutation_p.G917E|CEP192_ENST00000430049.2_Missense_Mutation_p.G1038E NM_032142.3 NP_115518.3 B7ZMF0 B7ZMF0_HUMAN centrosomal protein 192kDa 1108 NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 TTGACTTATGGAGGCTGGAAA 0.343000 36 40 0 0 1 0 0 KIAA2022 340533 broad.mit.edu 37 X 73964195 73964195 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:73964195G>A ENST00000373468.1 - 3 848 c.197C>T c.(196-198)cCt>cTt p.P66L KIAA2022_ENST00000055682.5_Missense_Mutation_p.P66L Q5QGS0 K2022_HUMAN KIAA2022 66 base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle delta DNA polymerase complex 3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 109 AGAGGGTAGAGGCAGGAGACC 0.532000 27 42 0 0 1 0 0 VWF 7450 broad.mit.edu 37 12 6167113 6167113 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:6167113G>A ENST00000261405.5 - 14 1885 c.1631C>T c.(1630-1632)cCc>cTc p.P544L NM_000552.3 NP_000543.2 P04275 VWF_HUMAN von Willebrand factor 544 VWFD 2. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) CTCCACCCGGGGCTCCGCCAG 0.657000 23 67 0 0 1 0 0 RAI1 10743 broad.mit.edu 37 17 17696587 17696587 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:17696587C>T ENST00000353383.1 + 3 794 c.325C>T c.(325-327)Cca>Tca p.P109S RAI1_ENST00000261641.6_Missense_Mutation_p.P109S NM_030665.3 NP_109590.3 Q7Z5J4 RAI1_HUMAN retinoic acid induced 1 109 cytoplasm|nucleus zinc ion binding breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7) 48 READ - Rectum adenocarcinoma(1115;0.0276) CAGCCCCTACCCAGGCCGCTA 0.677000 15 16 0 0 1 0 0 SCARF2 91179 broad.mit.edu 37 22 20784021 20784021 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr22:20784021G>A ENST00000405555.3 - 7 1372 c.1302C>T c.(1300-1302)caC>caT p.H434H SCARF2_ENST00000266214.5_Silent_p.H434H NM_182895.2 NP_878315.1 Q96GP6 SREC2_HUMAN scavenger receptor class F, member 2 434 cell adhesion integral to membrane protein binding|receptor activity breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2) 10 Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) ACTTACCTAGGTGGCAGGCAC 0.652000 49 66 0 0 1 0 0 CAPN11 11131 broad.mit.edu 37 6 44141076 44141076 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr6:44141076C>T ENST00000542245.1 + 7 822 c.784C>T c.(784-786)Ctt>Ttt p.L262F CAPN11_ENST00000398776.1_Missense_Mutation_p.L262F Q9UMQ6 CAN11_HUMAN calpain 11 262 Calpain catalytic. proteolysis acrosomal vesicle calcium ion binding|calcium-dependent cysteine-type endopeptidase activity breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1) 36 all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) GCTCAGGCTCCTTAGGAAGGC 0.592000 6 28 0 0 1 0 0 ATP2A2 488 broad.mit.edu 37 12 110783812 110783812 + Silent SNP C C T rs144955024 byFrequency TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:110783812C>T ENST00000395494.2 + 18 3230 c.2667C>T c.(2665-2667)tcC>tcT p.S889S ATP2A2_ENST00000539276.2_Silent_p.S916S|ATP2A2_ENST00000308664.6_Silent_p.S916S P16615 AT2A2_HUMAN ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 916 ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 38 GCAGCTTGTCCGAAAACCAGT 0.572000 30 84 0 0 1 0 0 ACSM2B 348158 broad.mit.edu 37 16 20576154 20576154 + Missense_Mutation SNP C C T rs144570025 TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr16:20576154C>T ENST00000329697.6 - 2 182 c.14G>A c.(13-15)cGa>cAa p.R5Q ACSM2B_ENST00000414188.2_Missense_Mutation_p.R5Q|ACSM2B_ENST00000567001.1_Missense_Mutation_p.R5Q|ACSM2B_ENST00000565322.1_Intron|ACSM2B_ENST00000565232.1_Missense_Mutation_p.R5Q NM_001105069.1 NP_001098539.1 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 2B 5 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding p.R5Q(1) breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5) 57 CTGAACTTTTCGCAGCCAATG 0.498000 18 32 0 0 1 0 0 MPEG1 219972 broad.mit.edu 37 11 58979269 58979269 + Missense_Mutation SNP T T C TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:58979269T>C ENST00000361050.3 - 1 1155 c.1070A>G c.(1069-1071)aAc>aGc p.N357S NM_001039396.1 NP_001034485.1 Q2M385 MPEG1_HUMAN macrophage expressed 1 357 integral to membrane NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 all_epithelial(135;0.125) AAAATTGAAGTTGGGAGAATT 0.502000 34 64 0 0 1 0 0 PRR12 57479 broad.mit.edu 37 19 50099935 50099935 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:50099935C>T ENST00000418929.2 + 4 2355 c.2343C>T c.(2341-2343)ctC>ctT p.L781L NM_020719.1 NP_065770.1 Q9ULL5 PRR12_HUMAN proline rich 12 476 DNA binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2) 11 all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132) CCCATGGCCTCCTTCTGGAGG 0.711000 12 24 0 0 1 0 0 SLC9A5 6553 broad.mit.edu 37 16 67290916 67290916 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr16:67290916C>T ENST00000299798.11 + 7 1300 c.1235C>T c.(1234-1236)gCc>gTc p.A412V NM_004594.2 NP_004585.1 Q14940 SL9A5_HUMAN solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5 412 regulation of pH integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1) 27 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116) GGGGCTGTGGCCTTTGCTCTC 0.552000 61 89 0 0 1 0 0 OTOF 9381 broad.mit.edu 37 2 26707344 26707344 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:26707344C>T ENST00000272371.2 - 12 1329 c.1203G>A c.(1201-1203)gaG>gaA p.E401E OTOF_ENST00000403946.3_Silent_p.E401E NM_194248.2 NP_919224.1 Q9HC10 OTOF_HUMAN otoferlin 401 cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 106 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGCCTCACCCCTCAATGTCAT 0.632000 12 16 0 0 1 0 0 CD200R1L 344807 broad.mit.edu 37 3 112564562 112564562 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:112564562G>A ENST00000398214.1 - 1 235 c.10C>T c.(10-12)Cca>Tca p.P4S CD200R1L_ENST00000488794.1_5'UTR|CD200R1L_ENST00000448932.1_5'UTR NM_001008784.2 NP_001008784.2 Q6Q8B3 MO2R2_HUMAN CD200 receptor 1-like 4 integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2) 19 AGTAATCTTGGAGCTGACATC 0.343000 28 64 0 0 1 0 0 IGSF5 150084 broad.mit.edu 37 21 41165472 41165472 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr21:41165472C>T ENST00000380588.4 + 8 1163 c.1060C>T c.(1060-1062)Ctc>Ttc p.L354F NM_001080444.1 NP_001073913.1 Q9NSI5 IGSF5_HUMAN immunoglobulin superfamily, member 5 354 integral to membrane|tight junction breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1) 23 Prostate(19;5.35e-06) CACCGCTTCTCTCCCTCCCAA 0.423000 54 28 0 0 1 0 0 SIGLEC5 8778 broad.mit.edu 37 19 52129352 52129352 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:52129352C>T ENST00000222107.4 - 8 1535 c.1397G>A c.(1396-1398)aGg>aAg p.R466K SIGLEC5_ENST00000429354.3_Missense_Mutation_p.R466K|SIGLEC5_ENST00000570106.2_Missense_Mutation_p.R466K|SIGLEC5_ENST00000534261.2_Missense_Mutation_p.R466K|SIGLEC5_ENST00000599649.1_Missense_Mutation_p.R466K O15389 SIGL5_HUMAN sialic acid binding Ig-like lectin 5 466 cell adhesion integral to membrane sugar binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 27 all_neural(266;0.0726) GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218) TGCTTGCTTCCTGCGGGCTTT 0.527000 19 39 0 0 1 0 0 TRBV7-7 28591 broad.mit.edu 37 7 142119873 142119873 + RNA SNP A A G TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:142119873A>G ENST00000390377.1 - 0 293 CTGTGCGCTGAATCGTCAGAG 0.537000 44 63 0 0 1 0 0 POLR3D 661 broad.mit.edu 37 8 22106602 22106602 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:22106602C>T ENST00000397802.4 + 6 916 c.701C>T c.(700-702)gCt>gTt p.A234V POLR3D_ENST00000306433.4_Missense_Mutation_p.A234V P05423 RPC4_HUMAN polymerase (RNA) III (DNA directed) polypeptide D, 44kDa 234 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1) 13 Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061) AAGATGAAGGCTCCTCCCAAA 0.567000 33 23 0 0 1 0 0 KCNC1 3746 broad.mit.edu 37 11 17793577 17793577 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:17793577C>T ENST00000379472.3 + 2 966 c.936C>T c.(934-936)gtC>gtT p.V312V KCNC1_ENST00000265969.6_Silent_p.V312V NM_004976.4 NP_004967.1 P48547 KCNC1_HUMAN potassium voltage-gated channel, Shaw-related subfamily, member 1 312 voltage-gated potassium channel complex voltage-gated potassium channel activity breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 33 TCCTGCGCGTCGTCCGCTTCG 0.632000 16 30 0 0 1 0 0 MAP1B 4131 broad.mit.edu 37 5 71491536 71491536 + Missense_Mutation SNP T T A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:71491536T>A ENST00000296755.7 + 5 2652 c.2354T>A c.(2353-2355)aTt>aAt p.I785N NM_005909.3 NP_005900.2 P46821 MAP1B_HUMAN microtubule-associated protein 1B 785 Lys-rich (highly basic, contains many KKEE and KKEI/V repeats). microtubule|microtubule associated complex structural molecule activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 104 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) ATAAAAGTCATTAAGAAGGAA 0.522000 33 65 0 0 1 0 0 LHFPL3 375612 broad.mit.edu 37 7 104377192 104377192 + Nonsense_Mutation SNP T T A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:104377192T>A ENST00000535008.1 + 4 640 c.516T>A c.(514-516)tgT>tgA p.C172* LHFPL3_ENST00000401970.2_Nonsense_Mutation_p.C158*|LHFPL3_ENST00000543266.1_Nonsense_Mutation_p.C172*|LHFPL3_ENST00000424859.1_Nonsense_Mutation_p.C158* Q86UP9 LHPL3_HUMAN lipoma HMGIC fusion partner-like 3 158 integral to membrane kidney(1)|large_intestine(2)|lung(6) 9 AACGGATGTGTGGAGAAAAGA 0.463000 10 21 0 0 1 0 0 TMCC2 9911 broad.mit.edu 37 1 205238548 205238548 + Silent SNP C C T rs138392378 byFrequency TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:205238548C>T ENST00000358024.3 + 3 1607 c.1218C>T c.(1216-1218)gtC>gtT p.V406V TMCC2_ENST00000329800.7_Silent_p.V166V|TMCC2_ENST00000545499.1_Silent_p.V328V|TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000330675.7_Silent_p.V181V NM_014858.3 NP_055673.2 O75069 TMCC2_HUMAN transmembrane and coiled-coil domain family 2 406 integral to membrane protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1) 20 Breast(84;0.0871) BRCA - Breast invasive adenocarcinoma(75;0.117) TGGAGGGCGTCAAGGGCAGCC 0.677000 26 37 0 0 1 0 0 RASAL1 8437 broad.mit.edu 37 12 113553841 113553841 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:113553841G>A ENST00000546530.1 - 10 1032 c.747C>T c.(745-747)gcC>gcT p.A249A RASAL1_ENST00000446861.3_Silent_p.A249A|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000548055.1_Silent_p.A249A|RASAL1_ENST00000261729.5_Silent_p.A249A NM_001193520.1|NM_004658.2 NP_001180449.1|NP_004649.2 O95294 RASL1_HUMAN RAS protein activator like 1 (GAP1 like) 249 intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane metal ion binding|phospholipid binding|Ras GTPase activator activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2) 43 TCACTCGCAGGGCACCCAGGT 0.582000 48 18 0 0 1 0 0 ZNF839 55778 broad.mit.edu 37 14 102792613 102792613 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr14:102792613C>T ENST00000262236.5 + 2 587 c.232C>T c.(232-234)Cca>Tca p.P78S ZNF839_ENST00000559185.1_Missense_Mutation_p.P78S|ZNF839_ENST00000558850.1_Missense_Mutation_p.P78S|ZNF839_ENST00000442396.2_Missense_Mutation_p.P194S NM_018335.4 NP_060805.3 A8K0R7 ZN839_HUMAN zinc finger protein 839 78 intracellular zinc ion binding breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 19 AAAGAGAGTCCCAGCCCCCAA 0.567000 8 18 0 0 1 0 0 ZNF253 56242 broad.mit.edu 37 19 20002338 20002338 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:20002338C>T ENST00000589717.1 + 4 374 c.282C>T c.(280-282)ttC>ttT p.F94F ZNF253_ENST00000355650.4_Silent_p.F18F NM_021047.2 NP_066385.2 O75346 ZN253_HUMAN zinc finger protein 253 94 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 AAAATTCTTTCCAAATAGGGA 0.368000 10 23 0 0 1 0 0 KDM5A 5927 broad.mit.edu 37 12 438016 438016 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:438016C>T ENST00000399788.2 - 14 2315 c.1953G>A c.(1951-1953)gaG>gaA p.E651E KDM5A_ENST00000382815.4_Silent_p.E651E NM_001042603.1 NP_001036068.1 P29375 KDM5A_HUMAN lysine (K)-specific demethylase 5A 651 chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleolus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2) 77 GTACAACAGACTCTCTTAATC 0.408000 T NUP98 AML 13 25 0 0 1 0 0 TJP2 9414 broad.mit.edu 37 9 71869364 71869364 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr9:71869364G>A ENST00000600472.1 - 1 278 c.279C>T c.(277-279)acC>acT p.T93T TJP2_ENST00000539225.1_3'UTR|TJP2_ENST00000348208.4_3'UTR|TJP2_ENST00000535702.1_3'UTR|TJP2_ENST00000377245.4_3'UTR|TJP2_ENST00000453658.2_3'UTR CCGCCGGGATGGTTCTTCTCC 0.577000 9 1 0 0 1 0 0 DGKQ 1609 broad.mit.edu 37 4 954459 954459 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr4:954459G>A ENST00000273814.3 - 23 2851 c.2778C>T c.(2776-2778)acC>acT p.T926T NM_001347.3 NP_001338.2 P52824 DGKQ_HUMAN diacylglycerol kinase, theta 110kDa 926 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway cytoskeleton|cytosol|nuclear speck|plasma membrane activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2) 9 OV - Ovarian serous cystadenocarcinoma(23;0.0158) GGGCATCCCTGGTGGTCCCGG 0.677000 20 25 0 0 1 0 0 IGF1 3479 broad.mit.edu 37 12 102811603 102811603 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:102811603C>T ENST00000307046.8 - 4 762 c.581G>A c.(580-582)gGa>gAa p.G194E IGF1_ENST00000456098.1_Intron|IGF1_ENST00000337514.6_Intron|IGF1_ENST00000424202.2_Intron|IGF1_ENST00000392904.1_Intron NM_001111285.1 NP_001104755.1 P05019 IGF1_HUMAN insulin-like growth factor 1 (somatomedin C) 194 anti-apoptosis|bone mineralization involved in bone maturation|cellular component movement|DNA replication|glycolate metabolic process|muscle hypertrophy|myoblast differentiation|myoblast proliferation|myotube cell development|negative regulation of smooth muscle cell apoptosis|phosphatidylinositol-mediated signaling|platelet activation|platelet degranulation|positive regulation of activated T cell proliferation|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis|positive regulation of osteoblast differentiation|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of Ras protein signal transduction|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat5 protein|Ras protein signal transduction|regulation of multicellular organism growth|satellite cell maintenance involved in skeletal muscle regeneration platelet alpha granule lumen growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|integrin binding central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1) 11 CCTTCATTTTCCTTTTTTGCC 0.438000 215 67 0 0 1 0 0 DISP1 84976 broad.mit.edu 37 1 223179117 223179117 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:223179117C>T ENST00000284476.6 + 8 4542 c.4378C>T c.(4378-4380)Cca>Tca p.P1460S NM_032890.3 NP_116279.2 Q96F81 DISP1_HUMAN dispatched homolog 1 (Drosophila) 1460 diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway basolateral plasma membrane|integral to membrane hedgehog receptor activity|peptide transporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5) 69 GBM - Glioblastoma multiforme(131;0.102) TCAGAATGAACCAAAAGTCCT 0.443000 32 16 0 0 1 0 0 NWD1 284434 broad.mit.edu 37 19 16890267 16890267 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:16890267G>A ENST00000524140.2 + 12 3140 c.2722G>A c.(2722-2724)Gga>Aga p.G908R NWD1_ENST00000552788.1_Missense_Mutation_p.G908R|NWD1_ENST00000549814.1_Missense_Mutation_p.G908R|NWD1_ENST00000523826.1_Missense_Mutation_p.G702R|NWD1_ENST00000379808.3_Missense_Mutation_p.G908R|NWD1_ENST00000339803.6_Missense_Mutation_p.G773R NM_001007525.3 NP_001007526.3 Q149M9 NWD1_HUMAN NACHT and WD repeat domain containing 1 908 ATP binding NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 CATGCTAACTGGACACACAGG 0.527000 OREG0025337 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 50 61 0 0 1 0 0 FBN3 84467 broad.mit.edu 37 19 8188845 8188845 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:8188845C>T ENST00000600128.1 - 23 3193 c.2779G>A c.(2779-2781)Ggg>Agg p.G927R FBN3_ENST00000270509.2_Missense_Mutation_p.G927R|FBN3_ENST00000601739.1_Missense_Mutation_p.G927R Q75N90 FBN3_HUMAN fibrillin 3 927 TB 5. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 AGGGTGACCCCACACTCATCC 0.637000 16 9 0 0 1 0 0 IL7R 3575 broad.mit.edu 37 5 35876315 35876315 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:35876315C>T ENST00000303115.3 + 8 1236 c.1107C>T c.(1105-1107)tgC>tgT p.C369C IL7R_ENST00000343305.4_3'UTR NM_002185.3 NP_002176.2 P16871 IL7RA_HUMAN interleukin 7 receptor 369 immune response|regulation of DNA recombination extracellular region|integral to membrane antigen binding|interleukin-7 receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3) 126 all_lung(31;0.00015) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202) CCCTCACATGCCTGGCTGGGA 0.547000 """Mis, O""" """ALL, ETP ALL""" Severe combined immune deficiency 16 37 0 0 1 0 0 BBS7 55212 broad.mit.edu 37 4 122791435 122791435 + Nonsense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr4:122791435G>A ENST00000264499.4 - 1 217 c.34C>T c.(34-36)Cag>Tag p.Q12* BBS7_ENST00000506636.1_Nonsense_Mutation_p.Q12* NM_176824.2 NP_789794.1 Q8IWZ6 BBS7_HUMAN Bardet-Biedl syndrome 7 12 cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception BBSome|centrosome|cilium membrane protein binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2) 30 GGGTTTACCTGCAGATAATCC 0.597000 Bardet-Biedl syndrome 15 44 0 0 1 0 0 MNDA 4332 broad.mit.edu 37 1 158815606 158815606 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:158815606C>T ENST00000368141.4 + 5 1061 c.800C>T c.(799-801)aCc>aTc p.T267I NM_002432.1 NP_002423.1 P41218 MNDA_HUMAN myeloid cell nuclear differentiation antigen 267 HIN-200. B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent cytoplasm|nucleus DNA binding NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 all_hematologic(112;0.0378) AAGGTCATTACCATATCTGAT 0.348000 6 32 0 0 1 0 0 METTL24 728464 broad.mit.edu 37 6 110567269 110567269 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr6:110567269C>T ENST00000338882.4 - 5 980 c.981G>A c.(979-981)aaG>aaA p.K327K CDC40_ENST00000368930.1_Intron|CDC40_ENST00000368933.1_Intron NM_001123364.1 NP_001116836.1 Q5JXM2 CF186_HUMAN methyltransferase like 24 327 extracellular region GCCTGAAATCCTTTTGTTCTA 0.433000 21 18 0 0 1 0 0 ZNF160 90338 broad.mit.edu 37 19 53572108 53572108 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:53572108G>A ENST00000601421.1 - 3 2447 c.1571C>T c.(1570-1572)tCt>tTt p.S524F ZNF160_ENST00000418871.1_Missense_Mutation_p.S560F|ZNF160_ENST00000429604.1_Missense_Mutation_p.S560F|ZNF160_ENST00000599056.1_Missense_Mutation_p.S560F Q9HCG1 ZN160_HUMAN zinc finger protein 160 560 hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 35 GBM - Glioblastoma multiforme(134;0.02) TTTCTCTCCAGAATGAATTCC 0.403000 40 70 0 0 1 0 0 HEPACAM2 253012 broad.mit.edu 37 7 92826823 92826823 + Silent SNP T T A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:92826823T>A ENST00000394468.2 - 5 1190 c.1113A>T c.(1111-1113)ctA>ctT p.L371L HEPACAM2_ENST00000341723.4_Silent_p.L359L|HEPACAM2_ENST00000492616.1_5'UTR|HEPACAM2_ENST00000440868.1_Silent_p.L359L|HEPACAM2_ENST00000453812.2_Silent_p.L394L NM_001039372.1 NP_001034461.1 A8MVW5 HECA2_HUMAN HEPACAM family member 2 371 integral to membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1) 28 ATTTTTTCCATAGGAAGAGAA 0.308000 22 28 0 0 1 0 0 COL4A1 1282 broad.mit.edu 37 13 110831733 110831733 + Silent SNP A A G TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr13:110831733A>G ENST00000375820.4 - 30 2350 c.2229T>C c.(2227-2229)ggT>ggC p.G743G NM_001845.4 NP_001836.2 P02462 CO4A1_HUMAN collagen, type IV, alpha 1 743 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) GACCTGGCAAACCTTTGAGTC 0.537000 30 57 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 3216688 3216688 + Missense_Mutation SNP A A C TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:3216688A>C ENST00000520002.1 - 22 3848 c.3293T>G c.(3292-3294)cTg>cGg p.L1098R CSMD1_ENST00000602723.1_Missense_Mutation_p.L1098R|CSMD1_ENST00000539096.1_Missense_Mutation_p.L1097R|CSMD1_ENST00000400186.3_Missense_Mutation_p.L1098R|CSMD1_ENST00000537824.1_Missense_Mutation_p.L1097R|CSMD1_ENST00000602557.1_Missense_Mutation_p.L1098R|CSMD1_ENST00000542608.1_Missense_Mutation_p.L1097R Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 1098 Sushi 6. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) ACACCTTGGCAGAGGTGCACT 0.592000 21 52 0 0 1 0 0 DPP10 57628 broad.mit.edu 37 2 116598334 116598334 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:116598334C>T ENST00000410059.1 + 25 2671 c.2191C>T c.(2191-2193)Cat>Tat p.H731Y DPP10_ENST00000393147.2_Missense_Mutation_p.H735Y|DPP10_ENST00000310323.8_Missense_Mutation_p.H724Y|DPP10_ENST00000409163.1_Missense_Mutation_p.H681Y NM_001178037.1|NM_020868.3 NP_001171508.1|NP_065919.2 Q8N608 DPP10_HUMAN dipeptidyl-peptidase 10 (non-functional) 731 proteolysis integral to membrane|membrane fraction serine-type peptidase activity breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1) 101 AGCAAAAGTTCATTTCCAACA 0.323000 22 29 0 0 1 0 0 TCTE1 202500 broad.mit.edu 37 6 44254208 44254208 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr6:44254208G>A ENST00000371505.4 - 3 461 c.339C>T c.(337-339)tcC>tcT p.S113S TCTE1_ENST00000371503.3_5'UTR|TMEM151B_ENST00000438774.2_Intron NM_182539.3 NP_872345.2 Q5JU00 TCTE1_HUMAN t-complex-associated-testis-expressed 1 113 breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) GTAGGTCAGGGGACAGGTGGT 0.597000 56 73 0 0 1 0 0 TBL1X 6907 broad.mit.edu 37 X 9665463 9665463 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:9665463C>T ENST00000217964.7 + 12 1748 c.1108C>T c.(1108-1110)Cat>Tat p.H370Y TBL1X_ENST00000536365.1_Missense_Mutation_p.H319Y|TBL1X_ENST00000380961.1_Missense_Mutation_p.H319Y|TBL1X_ENST00000407597.2_Missense_Mutation_p.H370Y|TBL1X_ENST00000424279.1_Missense_Mutation_p.H319Y NM_005647.3 NP_005638.1 O60907 TBL1X_HUMAN transducin (beta)-like 1X-linked 370 canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent spindle microtubule|transcriptional repressor complex beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2) 20 Hepatocellular(5;0.000888) GTTTCCTTTTCATTCAGGTGA 0.383000 63 70 0 0 1 0 0 ST8SIA3 51046 broad.mit.edu 37 18 55020182 55020182 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr18:55020182G>A ENST00000324000.3 + 1 2139 c.105G>A c.(103-105)aaG>aaA p.K35K NM_015879.2 NP_056963.2 O43173 SIA8C_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 35 glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3) 36 READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205) CCCTGAAAAAGGAGAACATCT 0.592000 28 52 0 0 1 0 0 PANX1 24145 broad.mit.edu 37 11 93911558 93911558 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:93911558C>T ENST00000227638.3 + 3 730 c.345C>T c.(343-345)ctC>ctT p.L115L PANX1_ENST00000436171.2_Silent_p.L115L NM_015368.3 NP_056183.2 Q96RD7 PANX1_HUMAN pannexin 1 115 positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission bleb|endoplasmic reticulum membrane|gap junction|integral to membrane calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) TCCTGCTGCTCTTTGCGATCC 0.478000 30 44 0 0 1 0 0 ATP8A1 10396 broad.mit.edu 37 4 42466780 42466780 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr4:42466780G>A ENST00000381668.5 - 27 2777 c.2546C>T c.(2545-2547)gCc>gTc p.A849V ATP8A1_ENST00000264449.10_Missense_Mutation_p.A834V NM_006095.2 NP_006086.1 Q9Y2Q0 AT8A1_HUMAN ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 849 ATP biosynthetic process chromaffin granule membrane|integral to membrane|plasma membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Phosphatidylserine(DB00144) ATAGTTCCAGGCACCATGAAT 0.328000 15 43 0 0 1 0 0 FNTA 2339 broad.mit.edu 37 8 42940391 42940391 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:42940391C>T ENST00000529687.1 + 9 1541 c.653C>T c.(652-654)aCa>aTa p.T218I FNTA_ENST00000302279.3_Missense_Mutation_p.T369I|FNTA_ENST00000342116.4_Missense_Mutation_p.T302I P49354 FNTA_HUMAN farnesyltransferase, CAAX box, alpha 369 cellular component disassembly involved in apoptosis|positive regulation of deacetylase activity|positive regulation of tubulin deacetylation|protein farnesylation|protein geranylgeranylation|transforming growth factor beta receptor signaling pathway cytosol|microtubule associated complex alpha-tubulin binding|CAAX-protein geranylgeranyltransferase activity|microtubule binding|protein farnesyltransferase activity cervix(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1) 16 Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184) all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129) Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17) AAACACAGCACAGAAAATGAC 0.358000 18 32 0 0 1 0 0 RGPD4 285190 broad.mit.edu 37 2 108488496 108488496 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:108488496G>A ENST00000408999.3 + 20 4113 c.4036G>A c.(4036-4038)Gaa>Aaa p.E1346K RGPD4_ENST00000354986.4_Missense_Mutation_p.E1346K NM_182588.2 NP_872394.2 Q7Z3J3 RGPD4_HUMAN RANBP2-like and GRIP domain containing 4 1346 RanBD1 2. intracellular transport binding breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3) 43 TGATCTAGTTGAAGTATCCAG 0.398000 107 163 0 0 1 0 0 CTBP2 1488 broad.mit.edu 37 10 126715549 126715549 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:126715549G>A ENST00000309035.6 - 1 910 c.780C>T c.(778-780)gcC>gcT p.A260A CTBP2_ENST00000494626.2_Intron|CTBP2_ENST00000531469.1_Intron|CTBP2_ENST00000411419.2_Intron|CTBP2_ENST00000337195.5_Intron NM_022802.2 NP_073713.2 P56545 CTBP2_HUMAN C-terminal binding protein 2 413 negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation cell junction|synapse|transcriptional repressor complex NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173) Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147) TGCTTTCCCGGGCAGGCCCGT 0.647000 29 44 0 0 1 0 0 F13B 2165 broad.mit.edu 37 1 197026303 197026303 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:197026303C>T ENST00000367412.1 - 7 1054 c.1011G>A c.(1009-1011)gaG>gaA p.E337E NM_001994.2 NP_001985.2 P05160 F13B_HUMAN coagulation factor XIII, B polypeptide 337 Sushi 6. blood coagulation extracellular region breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3) 66 AGGGTGGTTCCTCACAGGCTA 0.398000 23 25 0 0 1 0 0 TSPAN12 23554 broad.mit.edu 37 7 120428813 120428813 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:120428813C>T ENST00000222747.3 - 8 1358 c.751G>A c.(751-753)Gat>Aat p.D251N TSPAN12_ENST00000415871.1_Missense_Mutation_p.D251N NM_012338.3 NP_036470.1 O95859 TSN12_HUMAN tetraspanin 12 251 angiogenesis|cell surface receptor linked signaling pathway|regulation of angiogenesis|retina layer formation integral to plasma membrane|membrane fraction endometrium(3)|kidney(1)|lung(4)|ovary(1)|skin(1) 10 all_neural(327;0.117) TCCCTTCTATCATAATACAGA 0.488000 31 55 0 0 1 0 0 LAS1L 81887 broad.mit.edu 37 X 64737987 64737987 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:64737987C>T ENST00000374811.3 - 12 1847 c.1807G>A c.(1807-1809)Gaa>Aaa p.E603K LAS1L_ENST00000374804.5_Missense_Mutation_p.E544K|LAS1L_ENST00000312391.8_3'UTR|LAS1L_ENST00000374807.5_Missense_Mutation_p.E586K NM_031206.4 NP_112483.1 Q9Y4W2 LAS1L_HUMAN LAS1-like (S. cerevisiae) 603 MLL1 complex|nucleolus protein binding breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1) 33 ATTCTGtcttcctcttcatca 0.527000 20 25 0 0 1 0 0 MACF1 23499 broad.mit.edu 37 1 39806365 39806365 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:39806365C>T ENST00000564288.1 + 39 11184 c.10407C>T c.(10405-10407)ttC>ttT p.F3469F MACF1_ENST00000545844.1_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000289893.4_Silent_p.F1909F|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000567887.1_Silent_p.F3506F|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000372915.3_Silent_p.F3474F Q9UPN3 MACF1_HUMAN microtubule-actin crosslinking factor 1 3474 cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing Golgi apparatus|microtubule|ruffle membrane actin filament binding|ATPase activity|calcium ion binding|microtubule binding breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10) 203 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) 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) TACTCCACTTCCAGAATGCTG 0.418000 18 5 0 0 1 0 0 ROBO1 6091 broad.mit.edu 37 3 78701047 78701047 + Nonsense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:78701047G>A ENST00000436010.2 - 17 3527 c.2530C>T c.(2530-2532)Caa>Taa p.Q844* ROBO1_ENST00000464233.1_Nonsense_Mutation_p.Q883*|ROBO1_ENST00000495273.1_Nonsense_Mutation_p.Q847*|ROBO1_ENST00000467549.1_Nonsense_Mutation_p.Q847* Q9Y6N7 ROBO1_HUMAN roundabout, axon guidance receptor, homolog 1 (Drosophila) 883 Fibronectin type-III 3. activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1) 44 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) AGGCTGACTTGGTCCTCAGGT 0.488000 55 74 0 0 1 0 0 SELE 6401 broad.mit.edu 37 1 169697064 169697064 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:169697064C>T ENST00000333360.7 - 9 1423 c.1284G>A c.(1282-1284)gtG>gtA p.V428V SELE_ENST00000367777.1_Intron|SELE_ENST00000367780.4_Silent_p.V303V|SELE_ENST00000367781.4_Silent_p.V365V|SELE_ENST00000367774.1_Intron|SELE_ENST00000367776.1_Silent_p.V365V|SELE_ENST00000367779.4_Intron|SELE_ENST00000367782.4_Intron|SELE_ENST00000367775.1_Silent_p.V303V|C1orf112_ENST00000498289.1_Intron NM_000450.2 NP_000441.2 P16581 LYAM2_HUMAN selectin E 428 actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 all_hematologic(923;0.208) CATCGCATCTCACAGCTGGAA 0.488000 20 45 0 0 1 0 0 TAF15 8148 broad.mit.edu 37 17 34149697 34149697 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:34149697C>T ENST00000588240.1 + 6 459 c.344C>T c.(343-345)tCa>tTa p.S115L AC015849.13_ENST00000589356.1_RNA|TAF15_ENST00000311979.3_Missense_Mutation_p.S112L|TAF15_ENST00000592237.1_Missense_Mutation_p.S24L|AC015849.19_ENST00000588415.1_RNA NM_003487.3|NM_139215.2 NP_003478.1|NP_631961.1 Q92804 RBP56_HUMAN TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa 115 Gln/Gly/Ser/Tyr-rich. positive regulation of transcription, DNA-dependent cytoplasm|nucleus DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding TAF15/NR4A3(33) lung(1)|ovary(1)|skin(2)|stomach(1) 5 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0193) CAACAAGATTCATATGACCAG 0.413000 T """TEC, CHN1, ZNF384""" """extraskeletal myxoid chondrosarcomas, ALL""" 19 18 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100686756 100686756 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:100686756G>A ENST00000306151.4 + 3 12123 c.12059G>A c.(12058-12060)gGc>gAc p.G4020D NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 4020 extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) ACCAGCAGAGGCTGCACTACT 0.522000 57 90 0 0 1 0 0 CCR4 1233 broad.mit.edu 37 3 32995562 32995562 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:32995562G>A ENST00000330953.5 + 2 816 c.648G>A c.(646-648)ggG>ggA p.G216G NM_005508.4 NP_005499.1 P51679 CCR4_HUMAN chemokine (C-C motif) receptor 4 216 chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response integral to plasma membrane NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1) 16 TCCCCTTAGGGATCATGCTGT 0.473000 41 66 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25442574 25442574 + RNA SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr15:25442574G>A ENST00000424208.1 + 0 1550 SNHG14_ENST00000424333.1_RNA|SNHG14_ENST00000456576.1_RNA NR_003305.1 CTGGCCCCGGGAAAATGTCCC 0.602000 10 17 0 0 1 0 0 ZNF407 55628 broad.mit.edu 37 18 72347413 72347413 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr18:72347413C>T ENST00000299687.5 + 1 4438 c.4438C>T c.(4438-4440)Ccg>Tcg p.P1480S ZNF407_ENST00000577538.1_Missense_Mutation_p.P1480S|ZNF407_ENST00000309902.6_Missense_Mutation_p.P1480S|ZNF407_ENST00000582337.1_Missense_Mutation_p.P1480S NM_017757.2 NP_060227.2 Q9C0G0 ZN407_HUMAN zinc finger protein 407 1480 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2) 67 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.184) GGAGGAGCTTCCGGAGGGAGG 0.468000 10 11 0 0 1 0 0 KRT3 3850 broad.mit.edu 37 12 53189633 53189633 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:53189633C>T ENST00000417996.2 - 1 268 c.194G>A c.(193-195)aGc>aAc p.S65N KRT3_ENST00000309505.3_Missense_Mutation_p.S65N NM_057088.2 NP_476429.2 P12035 K2C3_HUMAN keratin 3 65 Gly-rich.|Head. epithelial cell differentiation|intermediate filament cytoskeleton organization keratin filament structural molecule activity NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1) 23 GATGGAGATGCTCTTGTTGCC 0.672000 57 92 0 0 1 0 0 SCN4B 6330 broad.mit.edu 37 11 118007835 118007835 + Splice_Site SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:118007835C>T ENST00000324727.4 - 5 740 c.593_splice c.e5-1 p.K198_splice SCN4B_ENST00000423160.2_5'UTR|SCN4B_ENST00000529878.1_Splice_Site_p.K64_splice NM_001142349.1|NM_174934.3 NP_001135821.1|NP_777594.1 Q8IWT1 SCN4B_HUMAN sodium channel, voltage-gated, type IV, beta subunit 198 voltage-gated sodium channel complex voltage-gated sodium channel activity kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1) 7 all_hematologic(175;0.0487) Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;3.33e-05)|Epithelial(105;0.00126) GACACTCCTTCCTGGAGAGGG 0.602000 11 20 0 0 1 0 0 SGPP1 81537 broad.mit.edu 37 14 64165303 64165303 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr14:64165303C>T ENST00000247225.6 - 2 852 c.758G>A c.(757-759)gGa>gAa p.G253E NM_030791.2 NP_110418.1 Q9BX95 SGPP1_HUMAN sphingosine-1-phosphate phosphatase 1 253 endoplasmic reticulum membrane|integral to membrane dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(4)|skin(2) 10 OV - Ovarian serous cystadenocarcinoma(108;0.0056)|all cancers(60;0.0141)|BRCA - Breast invasive adenocarcinoma(234;0.103) AGAGTGCATTCCCATGTAAAT 0.299000 19 22 0 0 1 0 0 HEY2 23493 broad.mit.edu 37 6 126080935 126080935 + Missense_Mutation SNP T T C TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr6:126080935T>C ENST00000368364.3 + 5 1198 c.1001T>C c.(1000-1002)gTt>gCt p.V334A HEY2_ENST00000368365.1_Missense_Mutation_p.V288A NM_012259.2 NP_036391.1 Q9UBP5 HEY2_HUMAN hes-related family bHLH transcription factor with YRPW motif 2 334 negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent transcriptional repressor complex histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding breast(1)|large_intestine(7)|lung(5)|prostate(1) 14 UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193) GGGACAGAAGTTGGAGCTTTT 0.473000 4 41 0 0 1 0 0 GDF10 2662 broad.mit.edu 37 10 48438543 48438543 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:48438543G>A ENST00000224605.2 - 1 433 c.168C>T c.(166-168)ctC>ctT p.L56L NM_004962.3 NP_004953.1 P55107 BMP3B_HUMAN growth differentiation factor 10 56 growth|skeletal system development|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1) 31 GGTGCCGCTGGAGATCCCTGT 0.711000 4 9 0 0 1 0 0 PRKCA 5578 broad.mit.edu 37 17 64785068 64785068 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:64785068G>A ENST00000413366.3 + 16 1851 c.1825G>A c.(1825-1827)Gag>Aag p.E609K NM_002737.2 NP_002728.1 P17252 KPCA_HUMAN protein kinase C, alpha 609 AGC-kinase C-terminal. activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 38 BRCA - Breast invasive adenocarcinoma(6;4.68e-09) Phosphatidylserine(DB00144)|Vitamin E(DB00163) GGAGAACAGGGAGATCCAGCC 0.572000 33 37 0 0 1 0 0 GUCY1A2 2977 broad.mit.edu 37 11 106681075 106681075 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:106681075G>A ENST00000526355.1 - 5 1804 c.1336C>T c.(1336-1338)Cat>Tat p.H446Y GUCY1A2_ENST00000347596.2_Missense_Mutation_p.H467Y|GUCY1A2_ENST00000282249.2_Missense_Mutation_p.H446Y NM_000855.2 NP_000846.1 P33402 GCYA2_HUMAN guanylate cyclase 1, soluble, alpha 2 446 intracellular signal transduction|platelet activation cytoplasm GTP binding|guanylate cyclase activity|heme binding p.H446Y(1) breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068) BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476) GTGGCATCATGGATAGGGATG 0.443000 22 50 0 0 1 0 0 OR4K15 81127 broad.mit.edu 37 14 20444383 20444383 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr14:20444383C>T ENST00000305051.5 + 1 781 c.706C>T c.(706-708)Ctc>Ttc p.L236F NM_001005486.1 NP_001005486.1 Q8NH41 OR4KF_HUMAN olfactory receptor, family 4, subfamily K, member 15 236 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L236I(1) endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1) 39 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;3.58e-06) GBM - Glioblastoma multiforme(265;0.00327) GAGTTCCTTTCTCCTCTTGGT 0.463000 58 78 0 0 1 0 0 DTD1 92675 broad.mit.edu 37 20 18724858 18724858 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr20:18724858G>A ENST00000377452.3 + 5 772 c.592G>A c.(592-594)Ggg>Agg p.G198R NM_080820.4 NP_543010.3 Q8TEA8 DTD1_HUMAN D-tyrosyl-tRNA deacylase 1 198 D-amino acid catabolic process cytoplasm hydrolase activity, acting on ester bonds large_intestine(4)|lung(1)|ovary(2) 7 TGCCAGCAGCGGGGCTGAGGG 0.537000 13 38 0 0 1 0 0 MROH5 389690 broad.mit.edu 37 8 142506529 142506529 + RNA SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:142506529C>T ENST00000430863.1 - 0 233 NM_207414.2 NP_997297.2 maestro heat-like repeat family member 5 ACCATCTGTCCCTGCGGGCAG 0.577000 13 41 0 0 1 0 0 C12orf45 121053 broad.mit.edu 37 12 105381946 105381946 + Splice_Site SNP T T G TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:105381946T>G ENST00000552951.1 + 2 160 c.115_splice c.e2-1 p.G39_splice C12orf45_ENST00000280749.5_Splice_Site_p.G39_splice NM_152318.2 NP_689531.2 Q8N5I9 CL045_HUMAN chromosome 12 open reading frame 45 39 large_intestine(1)|lung(2) 3 TATTTTCAGGTATATGGGACA 0.433000 15 3 0 0 1 0 0 C17orf47 284083 broad.mit.edu 37 17 56620819 56620819 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:56620819G>A ENST00000321691.3 - 1 910 c.729C>T c.(727-729)gtC>gtT p.V243V RP11-112H10.4_ENST00000580769.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA NM_001038704.2 NP_001033793.2 Q8NEP4 CQ047_HUMAN chromosome 17 open reading frame 47 243 NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 24 Medulloblastoma(34;0.127)|all_neural(34;0.237) CTTCTACAGGGACCCTTCTCT 0.478000 43 79 0 0 1 0 0 AASS 10157 broad.mit.edu 37 7 121756701 121756701 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:121756701G>A ENST00000393376.1 - 7 975 c.880C>T c.(880-882)Cgt>Tgt p.R294C AASS_ENST00000417368.2_Missense_Mutation_p.R294C|AASS_ENST00000473553.1_Intron Q9UDR5 AASS_HUMAN aminoadipate-semialdehyde synthase 294 Lysine-ketoglutarate reductase. protein tetramerization mitochondrial matrix binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 54 L-Glutamic Acid(DB00142)|NADH(DB00157) GTATTAAAACGACTTATGTAG 0.388000 29 46 0 0 1 0 0 CFHR5 81494 broad.mit.edu 37 1 196977705 196977705 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:196977705G>A ENST00000367414.5 + 10 1730 c.1674G>A c.(1672-1674)ggG>ggA p.G558G CFHR5_ENST00000256785.4_Silent_p.G534G NM_030787.3 NP_110414.1 Q9BXR6 FHR5_HUMAN complement factor H-related 5 534 Sushi 9. complement activation, alternative pathway extracellular region NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2) 49 CAAAAACAGGGGATGCTGTTG 0.358000 31 25 0 0 1 0 0 SLITRK3 22865 broad.mit.edu 37 3 164906992 164906992 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:164906992G>A ENST00000475390.1 - 2 2070 c.1627C>T c.(1627-1629)Ccc>Tcc p.P543S SLITRK3_ENST00000241274.3_Missense_Mutation_p.P543S O94933 SLIK3_HUMAN SLIT and NTRK-like family, member 3 543 integral to membrane NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5) 119 CCAGCCACGGGAAGATAGAGG 0.507000 HNSCC(40;0.11) 14 33 0 0 1 0 0 CCNL2 81669 broad.mit.edu 37 1 1323210 1323210 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:1323210G>A ENST00000400809.3 - 10 1163 c.1158C>T c.(1156-1158)agC>agT p.S386S CCNL2_ENST00000408952.5_Silent_p.S164S|CCNL2_ENST00000505849.1_5'UTR NM_030937.4 NP_112199.2 Q96S94 CCNL2_HUMAN cyclin L2 386 RS. regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent nuclear speck protein kinase binding central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2) 13 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146) TCTGCTCACGGCTCCGGCTCC 0.632000 12 9 0 0 1 0 0 SYCE1 93426 broad.mit.edu 37 10 135369531 135369531 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:135369531C>T ENST00000368517.3 - 9 579 c.441G>A c.(439-441)aaG>aaA p.K147K SYCE1_ENST00000343131.5_Silent_p.K183K|SPRN_ENST00000541506.1_Intron|SYCE1_ENST00000432597.2_Silent_p.K147K NM_130784.2 NP_570140.1 Q8N0S2 SYCE1_HUMAN synaptonemal complex central element protein 1 183 cell division central element breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1) 19 all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) CACAAATCTCCTTTGCCAGCC 0.557000 39 50 0 0 1 0 0 AOC3 8639 broad.mit.edu 37 17 41004096 41004096 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:41004096G>A ENST00000308423.2 + 1 896 c.736G>A c.(736-738)Gag>Aag p.E246K NM_003734.2 NP_003725.1 Q16853 AOC3_HUMAN amine oxidase, copper containing 3 246 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) CGTGGGCTTGGAGCTGCTAGT 0.622000 26 39 0 0 1 0 0 CT47B1 643311 broad.mit.edu 37 X 120008876 120008876 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:120008876C>T ENST00000371311.3 - 1 903 c.649G>A c.(649-651)Gag>Aag p.E217K NM_001145718.1 NP_001139190.1 P0C2W7 CT47B_HUMAN cancer/testis antigen family 47, member B1 217 breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1) 22 TCCGCGGGCTCCCTGGCCATC 0.697000 59 90 0 0 1 0 0 IL18RAP 8807 broad.mit.edu 37 2 103067347 103067347 + Nonsense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:103067347G>A ENST00000264260.2 + 11 1839 c.1250G>A c.(1249-1251)tGg>tAg p.W417* IL18RAP_ENST00000409369.1_Nonsense_Mutation_p.W275* NM_003853.2 NP_003844.1 O95256 I18RA_HUMAN interleukin 18 receptor accessory protein 417 TIR. cell surface receptor linked signaling pathway|inflammatory response|innate immune response integral to membrane transmembrane receptor activity autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4) 37 TATGCAAAATGGAGCTCTTTT 0.343000 36 59 0 0 1 0 0 DGKQ 1609 broad.mit.edu 37 4 954460 954460 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr4:954460G>A ENST00000273814.3 - 23 2850 c.2777C>T c.(2776-2778)aCc>aTc p.T926I NM_001347.3 NP_001338.2 P52824 DGKQ_HUMAN diacylglycerol kinase, theta 110kDa 926 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway cytoskeleton|cytosol|nuclear speck|plasma membrane activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2) 9 OV - Ovarian serous cystadenocarcinoma(23;0.0158) GGCATCCCTGGTGGTCCCGGC 0.672000 20 25 0 0 1 0 0 DPP9 91039 broad.mit.edu 37 19 4702711 4702711 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:4702711C>T ENST00000262960.9 - 8 1064 c.787G>A c.(787-789)Gat>Aat p.D263N DPP9_ENST00000598800.1_Missense_Mutation_p.D234N|DPP9_ENST00000594671.1_Missense_Mutation_p.D234N|DPP9_ENST00000597849.1_Missense_Mutation_p.D263N NM_139159.4 NP_631898.3 Q86TI2 DPP9_HUMAN dipeptidyl-peptidase 9 234 proteolysis cytosol|membrane aminopeptidase activity|serine-type peptidase activity cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884) TTGGGGTCATCCAGGACATTG 0.592000 10 1 0 0 1 0 0 PCDHB4 56131 broad.mit.edu 37 5 140502771 140502771 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:140502771G>A ENST00000194152.1 + 1 1191 c.1191G>A c.(1189-1191)aaG>aaA p.K397K NM_018938.2 NP_061761.1 Q9Y5E5 PCDB4_HUMAN 397 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton calcium ion binding autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 67 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CAACTTTGAAGAATTTTTACA 0.448000 25 39 0 0 1 0 0 CCDC176 80127 broad.mit.edu 37 14 74516716 74516716 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr14:74516716C>T ENST00000394009.3 + 8 1227 c.1104C>T c.(1102-1104)caC>caT p.H368H AC005484.5_ENST00000492026.1_RNA|CCDC176_ENST00000553773.1_Silent_p.H93H NM_025057.2 NP_079333.2 coiled-coil domain containing 176 ATGCTCTGCACCAAGTGAAGC 0.408000 26 31 0 0 1 0 0 NDST4 64579 broad.mit.edu 37 4 115997399 115997399 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr4:115997399C>T ENST00000264363.2 - 2 1472 c.794G>A c.(793-795)gGa>gAa p.G265E NM_022569.1 NP_072091.1 Q9H3R1 NDST4_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 265 Heparan sulfate N-deacetylase 4. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000562) TCTCTGAATTCCATCATGAAG 0.433000 54 68 0 0 1 0 0 DVL3 1857 broad.mit.edu 37 3 183887862 183887862 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:183887862C>T ENST00000313143.3 + 14 1815 c.1567C>T c.(1567-1569)Cct>Tct p.P523S DVL3_ENST00000431765.1_Missense_Mutation_p.P506S|EIF2B5_ENST00000444495.1_Intron NM_004423.3 NP_004414.3 Q92997 DVL3_HUMAN dishevelled segment polarity protein 3 523 canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent cytoplasm beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1) 35 all_cancers(143;1.12e-10)|Ovarian(172;0.0339) Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22) CACACTGGCCCCTTTGCCGCA 0.677000 21 46 0 0 1 0 0 FCHO1 23149 broad.mit.edu 37 19 17877568 17877568 + Silent SNP C C A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:17877568C>A ENST00000594202.1 + 7 564 c.285C>A c.(283-285)ctC>ctA p.L95L FCHO1_ENST00000252771.7_Silent_p.L95L|FCHO1_ENST00000596951.1_Silent_p.L95L|FCHO1_ENST00000539407.1_Silent_p.L95L|FCHO1_ENST00000595033.1_Silent_p.L45L|FCHO1_ENST00000597512.1_Silent_p.L102L|FCHO1_ENST00000389133.4_Silent_p.L95L|FCHO1_ENST00000596536.1_Silent_p.L95L|FCHO1_ENST00000600676.1_Silent_p.L95L NM_001161357.1 NP_001154829.1 O14526 FCHO1_HUMAN FCH domain only 1 95 NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12) 22 TACAGGATCTCATCAAGGACG 0.647000 23 15 2.39556e-15 2.43492e-15 1 1 0 SULT1C3 442038 broad.mit.edu 37 2 108881362 108881362 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:108881362C>T ENST00000329106.2 + 6 703 c.703C>T c.(703-705)Cac>Tac p.H235Y NM_001008743.1 NP_001008743.1 Q6IMI6 ST1C3_HUMAN sulfotransferase family, cytosolic, 1C, member 3 235 cytoplasm alcohol sulfotransferase activity breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4) 16 AATCATCTATCACACCTCCTT 0.418000 32 46 0 0 1 0 0 KRTAP10-3 386682 broad.mit.edu 37 21 45978264 45978264 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr21:45978264G>A ENST00000391620.1 - 1 379 c.335C>T c.(334-336)cCc>cTc p.P112L TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron NM_198696.2 NP_941969.2 P60369 KR103_HUMAN keratin associated protein 10-3 112 18 X 5 AA repeats of C-C-X(3). keratin filament kidney(1)|lung(4)|prostate(1)|skin(1) 7 gcagcagacgggcacacagca 0.647000 102 52 0 0 1 0 0 ANKK1 255239 broad.mit.edu 37 11 113270782 113270782 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:113270782C>T ENST00000303941.3 + 8 2185 c.2091C>T c.(2089-2091)caC>caT p.H697H NM_178510.1 NP_848605.1 Q8NFD2 ANKK1_HUMAN ankyrin repeat and kinase domain containing 1 697 ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1) 29 all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194) BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238) CACCCGCCCACCTGGCCGCCC 0.627000 24 29 0 0 1 0 0 LATS2 26524 broad.mit.edu 37 13 21565462 21565462 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr13:21565462G>A ENST00000382592.4 - 3 829 c.424C>T c.(424-426)Ctg>Ttg p.L142L LATS2_ENST00000542899.1_Silent_p.L142L|LATS2_ENST00000472754.1_5'UTR NM_014572.2 NP_055387.2 Q9NRM7 LATS2_HUMAN large tumor suppressor kinase 2 142 cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity microtubule organizing center|nucleus|spindle pole ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2) 45 all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104) CTCGGGTCCAGGTAGCCCATC 0.582000 21 45 0 0 1 0 0 NRG4 145957 broad.mit.edu 37 15 76254278 76254278 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr15:76254278C>T ENST00000394907.3 - 4 323 c.142G>A c.(142-144)Gtt>Att p.V48I NRG4_ENST00000535975.1_Missense_Mutation_p.V48I NM_138573.3 NP_612640.1 Q8WWG1 NRG4_HUMAN neuregulin 4 48 extracellular region|integral to membrane|plasma membrane growth factor activity large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 5 GGGAGAAAAACCTCTTCACAA 0.388000 37 61 0 0 1 0 0 UTP14C 9724 broad.mit.edu 37 13 52603485 52603485 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr13:52603485C>T ENST00000521776.2 + 2 1278 c.545C>T c.(544-546)cCc>cTc p.P182L ALG11_ENST00000523764.1_3'UTR|ALG11_ENST00000521508.1_3'UTR NM_021645.5 NP_067677.4 Q5TAP6 UT14C_HUMAN UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast) 182 cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis nucleolus|small-subunit processome breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1) 32 Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;2.3e-08) GCAAGAACTCCCCTGGAGCAG 0.532000 28 38 0 0 1 0 0 SLC1A7 6512 broad.mit.edu 37 1 53558361 53558361 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:53558361G>A ENST00000371494.4 - 7 1023 c.896C>T c.(895-897)aCc>aTc p.T299I NM_006671.4 NP_006662.3 O00341 EAA5_HUMAN solute carrier family 1 (glutamate transporter), member 7 299 integral to membrane|plasma membrane high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1) 26 Colorectal(1306;0.234) L-Glutamic Acid(DB00142) GCACACCACGGTGACTGAGTA 0.567000 10 74 0 0 1 0 0 HECTD4 283450 broad.mit.edu 37 12 112630477 112630477 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:112630477G>A ENST00000550722.1 - 59 9136 c.8741C>T c.(8740-8742)gCc>gTc p.A2914V HECTD4_ENST00000377560.5_Missense_Mutation_p.A2888V|HECTD4_ENST00000430131.2_Missense_Mutation_p.A2638V NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 GTAACAGGCGGCCTCGATGAG 0.632000 7 17 0 0 1 0 0 DGAT2L6 347516 broad.mit.edu 37 X 69424805 69424805 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:69424805G>A ENST00000333026.3 + 7 963 c.863G>A c.(862-864)gGg>gAg p.G288E NM_198512.1 NP_940914.1 Q6ZPD8 DG2L6_HUMAN diacylglycerol O-acyltransferase 2-like 6 288 lipid biosynthetic process endoplasmic reticulum membrane|integral to membrane acyltransferase activity breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1) 12 TTCATAGTTGGGGAACCCCTT 0.473000 8 31 0 0 1 0 0 AHDC1 27245 broad.mit.edu 37 1 27876729 27876729 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:27876729G>A ENST00000374011.2 - 6 2866 c.1898C>T c.(1897-1899)tCa>tTa p.S633L AHDC1_ENST00000247087.5_Missense_Mutation_p.S633L|AHDC1_ENST00000482400.2_Intron NM_001029882.2 NP_001025053.1 Q5TGY3 AHDC1_HUMAN AT hook, DNA binding motif, containing 1 633 DNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 42 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291) GCGGGGCGGTGAGCACCGTCC 0.662000 35 71 0 0 1 0 0 BCAS1 8537 broad.mit.edu 37 20 52583479 52583479 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr20:52583479G>A ENST00000395961.3 - 9 1482 c.1316C>T c.(1315-1317)cCa>cTa p.P439L BCAS1_ENST00000371435.2_Intron|BCAS1_ENST00000434986.2_Intron|BCAS1_ENST00000371440.3_Missense_Mutation_p.P470L NM_003657.2 NP_003648.2 O75363 BCAS1_HUMAN breast carcinoma amplified sequence 1 439 cytoplasm protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1) 37 Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05) STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198) AGAGGTTCTTGGTTTGCTTTC 0.468000 80 140 0 0 1 0 0 SLC5A12 159963 broad.mit.edu 37 11 26718756 26718756 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:26718756C>T ENST00000396005.3 - 8 1304 c.995G>A c.(994-996)gGa>gAa p.G332E SLC5A12_ENST00000280467.6_Missense_Mutation_p.G332E NM_178498.3 NP_848593.2 Q1EHB4 SC5AC_HUMAN solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12 332 sodium ion transport apical plasma membrane|integral to membrane symporter activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1) 35 TCCTGGCAGTCCTGGCATTGT 0.383000 29 50 0 0 1 0 0 SORBS1 10580 broad.mit.edu 37 10 97174427 97174427 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:97174427G>A ENST00000371247.2 - 9 823 c.634C>T c.(634-636)Ccc>Tcc p.P212S SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000353505.5_Intron|SORBS1_ENST00000361941.3_Missense_Mutation_p.P212S|SORBS1_ENST00000393949.1_Missense_Mutation_p.P203S|SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000371245.3_Intron|SORBS1_ENST00000371227.4_Missense_Mutation_p.P212S|SORBS1_ENST00000277982.5_Missense_Mutation_p.P212S|SORBS1_ENST00000354106.3_Missense_Mutation_p.P203S|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000371249.2_Missense_Mutation_p.P180S|SORBS1_ENST00000474353.2_5'UTR|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000371246.2_Missense_Mutation_p.P212S Q9BX66 SRBS1_HUMAN sorbin and SH3 domain containing 1 212 focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens actin binding|insulin receptor binding|SH3/SH2 adaptor activity NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 42 Colorectal(252;0.0429) Epithelial(162;1.7e-06)|all cancers(201;6.52e-05) AGATGAGGGGGAATGAAATCA 0.632000 20 39 0 0 1 0 0 MAGEE1 57692 broad.mit.edu 37 X 75648906 75648906 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:75648906G>A ENST00000361470.2 + 1 861 c.583G>A c.(583-585)Gga>Aga p.G195R NM_020932.2 NP_065983.1 Q9HCI5 MAGE1_HUMAN melanoma antigen family E, 1 195 Pro-rich. dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1) 51 CCCTGATGAGGGACCAAGCAC 0.697000 6 23 0 0 1 0 0 SPEN 23013 broad.mit.edu 37 1 16260017 16260017 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:16260017C>T ENST00000375759.3 + 11 7486 c.7282C>T c.(7282-7284)Ccc>Tcc p.P2428S NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 2428 Interaction with MSX2 (By similarity).|Pro-rich.|RID. interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) AGCATCTGTGCCCCCAGACCT 0.547000 10 6 0 0 1 0 0 ARHGEF1 9138 broad.mit.edu 37 19 42409915 42409915 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:42409915C>T ENST00000599846.1 + 26 2633 c.2508C>T c.(2506-2508)acC>acT p.T836T ARHGEF1_ENST00000354532.3_Silent_p.T780T|ARHGEF1_ENST00000347545.4_Silent_p.T747T|ARHGEF1_ENST00000378152.4_Silent_p.T762T|ARHGEF1_ENST00000337665.4_Silent_p.T795T Q92888 ARHG1_HUMAN Rho guanine nucleotide exchange factor (GEF) 1 780 cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction cytosol|plasma membrane GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425) Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644) CCCTCAGCACCCGAGAACCCC 0.672000 16 40 0 0 1 0 0 MRC2 9902 broad.mit.edu 37 17 60755897 60755897 + Silent SNP G G A rs142797663 TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:60755897G>A ENST00000303375.5 + 13 2487 c.2085G>A c.(2083-2085)aaG>aaA p.K695K NM_006039.4 NP_006030.2 Q9UBG0 MRC2_HUMAN mannose receptor, C type 2 695 C-type lectin 4. endocytosis integral to membrane receptor activity|sugar binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3) 53 AGGACAAGAAGAGCTGGGTCC 0.657000 12 21 0 0 1 0 0 CACNA1D 776 broad.mit.edu 37 3 53785837 53785837 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:53785837C>T ENST00000288139.3 + 29 3756 c.3638C>T c.(3637-3639)cCc>cTc p.P1213L CACNA1D_ENST00000350061.5_Missense_Mutation_p.P1193L|CACNA1D_ENST00000540742.1_Missense_Mutation_p.P100L|CACNA1D_ENST00000422281.2_Missense_Mutation_p.P1193L NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit 1193 axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) CCCAAAAACCCCTACCAGTAC 0.498000 57 112 0 0 1 0 0 TBC1D14 57533 broad.mit.edu 37 4 6925544 6925544 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr4:6925544C>T ENST00000409757.4 + 2 552 c.428C>T c.(427-429)cCg>cTg p.P143L TBC1D14_ENST00000448507.1_Missense_Mutation_p.P143L NM_020773.2 NP_065824.2 Q9P2M4 TBC14_HUMAN TBC1 domain family, member 14 143 intracellular Rab GTPase activator activity p.P128Q(1)|p.P143Q(1) breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 22 CTCTATAGCCCGACCTCCAAA 0.602000 18 100 0 0 1 0 0 DOK1 1796 broad.mit.edu 37 2 74783947 74783947 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:74783947G>A ENST00000233668.5 + 5 1821 c.1152G>A c.(1150-1152)aaG>aaA p.K384K DOK1_ENST00000480318.1_3'UTR|DOK1_ENST00000409429.1_Silent_p.K245K|DOK1_ENST00000340004.6_3'UTR NM_001381.3 NP_001372.1 Q99704 DOK1_HUMAN docking protein 1, 62kDa (downstream of tyrosine kinase 1) 384 Pro-rich. fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway cytosol|perinuclear region of cytoplasm insulin receptor binding endometrium(3)|large_intestine(2)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 16 GGGAGCCCAAGGATGCATGGT 0.607000 42 72 0 0 1 0 0 CACNA1S 779 broad.mit.edu 37 1 201041907 201041907 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:201041907G>A ENST00000362061.3 - 16 2429 c.2203C>T c.(2203-2205)Ccc>Tcc p.P735S CACNA1S_ENST00000367338.3_Missense_Mutation_p.P735S NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 735 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) GAGGGGTAGGGATCCTTCACC 0.502000 26 76 0 0 1 0 0 GPATCH3 63906 broad.mit.edu 37 1 27224200 27224200 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:27224200G>A ENST00000361720.5 - 2 491 c.468C>T c.(466-468)ccC>ccT p.P156P NM_022078.2 NP_071361.2 Q96I76 GPTC3_HUMAN G patch domain containing 3 156 intracellular nucleic acid binding endometrium(2)|large_intestine(1)|lung(11)|skin(1) 15 all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419) GGGTCTTGAAGGGAAAGGAGC 0.517000 5 15 0 0 1 0 0 RGS19 10287 broad.mit.edu 37 20 62705289 62705289 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr20:62705289C>T ENST00000395042.1 - 6 837 c.571G>A c.(571-573)Gac>Aac p.D191N RGS19_ENST00000332298.5_Missense_Mutation_p.D191N NM_005873.2 NP_005864.1 P49795 RGS19_HUMAN regulator of G-protein signaling 19 191 RGS. autophagy|G-protein coupled receptor protein signaling pathway|negative regulation of signal transduction|small GTPase mediated signal transduction Golgi apparatus|membrane fraction|plasma membrane GTPase activator activity|protein binding|signal transducer activity lung(1)|prostate(1)|skin(1) 3 all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09) GGGTAGGAGTCCCGGTGCATG 0.662000 34 66 0 0 1 0 0 KCNK13 56659 broad.mit.edu 37 14 90650549 90650549 + Missense_Mutation SNP C C G TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr14:90650549C>G ENST00000282146.4 + 2 870 c.429C>G c.(427-429)aaC>aaG p.N143K NM_022054.2 NP_071337.2 Q9HB14 KCNKD_HUMAN potassium channel, subfamily K, member 13 143 integral to membrane potassium channel activity|voltage-gated ion channel activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4) 25 all_cancers(154;0.186) TGTTCTTCAACCTCTTCCTGG 0.562000 41 64 0 0 1 0 0 ZNF639 51193 broad.mit.edu 37 3 179051424 179051424 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:179051424C>T ENST00000326361.3 + 7 1117 c.672C>T c.(670-672)atC>atT p.I224I ZNF639_ENST00000466663.1_3'UTR|ZNF639_ENST00000484866.1_Silent_p.I224I|ZNF639_ENST00000496856.1_Silent_p.I224I NM_016331.1 NP_057415.1 Q9UID6 ZN639_HUMAN zinc finger protein 639 224 initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent nucleus protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(10)|urinary_tract(1) 16 all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923) AGCATATGATCCTGAAGCATA 0.378000 19 42 0 0 1 0 0 CPN2 1370 broad.mit.edu 37 3 194063239 194063239 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:194063239C>T ENST00000323830.3 - 2 282 c.193G>A c.(193-195)Gaa>Aaa p.E65K CPN2_ENST00000429275.1_Missense_Mutation_p.E65K NM_001080513.2 NP_001073982.2 P22792 CPN2_HUMAN carboxypeptidase N, polypeptide 2 65 protein stabilization extracellular region enzyme regulator activity breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1) 27 all_cancers(143;5.31e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.65e-05) GCTCTGGTTTCCAATGTGGTG 0.547000 47 58 0 0 1 0 0 SPRR3 6707 broad.mit.edu 37 1 152975579 152975579 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:152975579C>T ENST00000331860.3 + 3 233 c.83C>T c.(82-84)cCa>cTa p.P28L SPRR3_ENST00000542696.1_Missense_Mutation_p.P28L|SPRR3_ENST00000295367.4_Missense_Mutation_p.P28L NM_005416.2 NP_005407.1 Q9UBC9 SPRR3_HUMAN small proline-rich protein 3 28 keratinization|peptide cross-linking|wound healing cytoplasm protein binding|structural molecule activity endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 11 Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.171) AGCCAGCCTCCACCTCAGGAA 0.512000 19 28 0 0 1 0 0 SLC1A7 6512 broad.mit.edu 37 1 53558360 53558360 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:53558360G>A ENST00000371494.4 - 7 1024 c.897C>T c.(895-897)acC>acT p.T299T NM_006671.4 NP_006662.3 O00341 EAA5_HUMAN solute carrier family 1 (glutamate transporter), member 7 299 integral to membrane|plasma membrane high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1) 26 Colorectal(1306;0.234) L-Glutamic Acid(DB00142) CGCACACCACGGTGACTGAGT 0.572000 10 73 0 0 1 0 0 ADCK2 90956 broad.mit.edu 37 7 140394570 140394570 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:140394570C>T ENST00000072869.4 + 8 2026 c.1848C>T c.(1846-1848)ccC>ccT p.P616P NDUFB2_ENST00000482954.1_Intron|ADCK2_ENST00000476491.1_Intron NM_052853.3 NP_443085.2 Q7Z695 ADCK2_HUMAN aarF domain containing kinase 2 616 Protein kinase. integral to membrane ATP binding|protein serine/threonine kinase activity cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4) 15 Melanoma(164;0.00956) CAGCGAGGCCCTTCCTCCTCA 0.622000 39 41 0 0 1 0 0 CXCR5 643 broad.mit.edu 37 11 118765006 118765006 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:118765006C>T ENST00000292174.4 + 2 929 c.753C>T c.(751-753)cgC>cgT p.R251R BCL9L_ENST00000334801.3_3'UTR NM_001716.4|NM_032966.2 NP_001707.1|NP_116743.1 P32302 CXCR5_HUMAN chemokine (C-X-C motif) receptor 5 251 B cell activation|cellular component movement integral to plasma membrane C-X-C chemokine receptor activity breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.62e-05) CCCAGCGGCGCCCTCAGCGGC 0.627000 18 26 0 0 1 0 0 CSHL1 1444 broad.mit.edu 37 17 61987975 61987975 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:61987975G>A ENST00000392824.4 - 2 381 c.320C>T c.(319-321)cCc>cTc p.P107L CSHL1_ENST00000450719.3_Intron|CSHL1_ENST00000561003.1_Intron|CSHL1_ENST00000309894.5_Intron|CSHL1_ENST00000259003.10_Intron|CSHL1_ENST00000346606.6_Intron|CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000558099.1_5'UTR Q14406 CSHL_HUMAN chorionic somatomammotropin hormone-like 1 0 extracellular region hormone activity|metal ion binding endometrium(3)|lung(6) 9 TACTCTTCTGGGAACCTGGCT 0.522000 30 44 0 0 1 0 0 ITIH6 347365 broad.mit.edu 37 X 54818415 54818415 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:54818415C>T ENST00000218436.6 - 3 341 c.312G>A c.(310-312)aaG>aaA p.K104K NM_198510.2 NP_940912.1 Q6UXX5 ITH5L_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 6 104 VIT. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity CATAGATTTTCTTTGCCTGGT 0.443000 33 77 0 0 1 0 0 MRVI1 10335 broad.mit.edu 37 11 10625981 10625981 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:10625981C>T ENST00000547195.1 - 12 1941 c.1441G>A c.(1441-1443)Gaa>Aaa p.E481K MRVI1_ENST00000531107.1_Missense_Mutation_p.E564K|MRVI1_ENST00000421747.1_Missense_Mutation_p.E563K|MRVI1_ENST00000552103.1_Missense_Mutation_p.E481K|LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000545852.1_Missense_Mutation_p.E257K|MRVI1_ENST00000534266.2_Missense_Mutation_p.E257K|MRVI1_ENST00000423302.2_Missense_Mutation_p.E572K|MRVI1_ENST00000558540.1_Missense_Mutation_p.E257K|MRVI1_ENST00000527509.2_Missense_Mutation_p.E481K|MRVI1_ENST00000424001.1_Missense_Mutation_p.E257K|MRVI1_ENST00000541483.1_Missense_Mutation_p.E366K|MRVI1_ENST00000436272.1_Missense_Mutation_p.E545K NM_001100163.2|NM_001206881.1 NP_001093633.1|NP_001193810.1 Q9Y6F6 MRVI1_HUMAN murine retrovirus integration site 1 homolog 545 platelet activation endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2) 22 all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723) TTTTCCAGTTCTTTCTCAGTG 0.483000 13 30 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 39075702 39075702 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:39075702C>T ENST00000355481.4 + 101 14882 c.14751C>T c.(14749-14751)ttC>ttT p.F4917F RYR1_ENST00000360985.3_Silent_p.F4917F|RYR1_ENST00000359596.3_Silent_p.F4922F NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 4922 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) TCACCTTCTTCTTCTTCGTCA 0.612000 17 23 0 0 1 0 0 NLGN1 22871 broad.mit.edu 37 3 173997364 173997364 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:173997364C>T ENST00000457714.1 + 6 2002 c.1573C>T c.(1573-1575)Cct>Tct p.P525S NLGN1_ENST00000545397.1_Missense_Mutation_p.P525S|NLGN1_ENST00000401917.3_Missense_Mutation_p.P565S|NLGN1_ENST00000361589.4_Missense_Mutation_p.P525S NM_014932.2 NP_055747.1 Q8N2Q7 NLGN1_HUMAN neuroligin 1 542 calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane cell adhesion molecule binding|neurexin binding|receptor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 Ovarian(172;0.0025) LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13) AGAGTTATTTCCTTGCAATTT 0.443000 14 44 0 0 1 0 0 FANCD2 2177 broad.mit.edu 37 3 10105521 10105521 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:10105521C>T ENST00000287647.3 + 21 1966 c.1873C>T c.(1873-1875)Cct>Tct p.P625S FANCD2_ENST00000383806.1_Missense_Mutation_p.P625S|FANCD2_ENST00000419585.1_Missense_Mutation_p.P625S|FANCD2_ENST00000383807.1_Missense_Mutation_p.P625S NM_033084.3 NP_149075.2 Q9BXW9 FACD2_HUMAN Fanconi anemia, complementation group D2 625 DNA repair|response to gamma radiation nucleoplasm protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 51 OV - Ovarian serous cystadenocarcinoma(96;0.148) TGAGCAGTCTCCTCAGGCCTC 0.453000 """D, Mis, N, F""" """AML, leukemia""" Involved in tolerance or repair of DNA crosslinks Fanconi Anemia 29 45 0 0 1 0 0 A1CF 29974 broad.mit.edu 37 10 52573626 52573626 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:52573626G>A ENST00000395489.2 - 12 1713 c.1317C>T c.(1315-1317)ctC>ctT p.L439L A1CF_ENST00000282641.2_Silent_p.L446L|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000374001.1_Silent_p.L438L|A1CF_ENST00000373993.1_Silent_p.L446L|A1CF_ENST00000373995.3_Silent_p.L446L|A1CF_ENST00000395495.1_Silent_p.L391L|A1CF_ENST00000373997.3_Silent_p.L438L|A1CF_ENST00000493415.1_5'UTR NM_001198819.1 NP_001185748.1 Q9NQ94 A1CF_HUMAN APOBEC1 complementation factor 446 cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3) 29 CCTGGGGAGCGAGTTTAATTC 0.388000 32 53 0 0 1 0 0 PCDHGA9 56107 broad.mit.edu 37 5 140784814 140784814 + Missense_Mutation SNP G G C TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:140784814G>C ENST00000573521.1 + 1 2295 c.2295G>C c.(2293-2295)aaG>aaC p.K765N PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018921.2|NM_032089.1 NP_061744.1|NP_114478.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACTCAAGGAAGAGTCACCTGA 0.522000 40 60 0 0 1 0 0 MROH7 374977 broad.mit.edu 37 1 55144428 55144428 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:55144428G>A ENST00000414150.2 + 11 2228 c.1950G>A c.(1948-1950)aaG>aaA p.K650K MROH7_ENST00000339553.5_Silent_p.K650K|MROH7_ENST00000395690.2_Silent_p.K650K|MROH7_ENST00000454855.2_Silent_p.K168K|MROH7_ENST00000545244.1_Silent_p.K218K|MROH7_ENST00000409996.1_Silent_p.K218K|MROH7_ENST00000421030.2_Silent_p.K650K maestro heat-like repeat family member 7 CCAGAGATAAGGAAGAGACCA 0.483000 26 27 0 0 1 0 0 C10orf90 118611 broad.mit.edu 37 10 128147687 128147687 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:128147687C>T ENST00000284694.7 - 6 1939 c.1819G>A c.(1819-1821)Gag>Aag p.E607K C10orf90_ENST00000356858.3_Missense_Mutation_p.E560K|C10orf90_ENST00000544758.1_Missense_Mutation_p.E704K|C10orf90_ENST00000480379.1_Missense_Mutation_p.E11K|C10orf90_ENST00000454341.1_Missense_Mutation_p.E510K NM_001004298.2 NP_001004298.2 Q96M02 CJ090_HUMAN chromosome 10 open reading frame 90 607 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) CTCAGGTCCTCCTTCCGCTGG 0.552000 32 55 0 0 1 0 0 NSD1 64324 broad.mit.edu 37 5 176636700 176636700 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:176636700C>T ENST00000439151.2 + 5 1345 c.1300C>T c.(1300-1302)Ccc>Tcc p.P434S NSD1_ENST00000347982.4_Missense_Mutation_p.P165S|NSD1_ENST00000361032.4_Missense_Mutation_p.P331S|NSD1_ENST00000354179.4_Missense_Mutation_p.P165S NM_022455.4 NP_071900.2 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 434 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) GTATGATGTTCCCAAGGGGTC 0.378000 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) 25 37 0 0 1 0 0 RIMS1 22999 broad.mit.edu 37 6 72984052 72984052 + Splice_Site SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr6:72984052G>A ENST00000521978.1 + 23 3399 c.3398_splice c.e23-1 p.R1133_splice RIMS1_ENST00000264839.7_Intron|RIMS1_ENST00000401910.3_Intron|RIMS1_ENST00000518273.1_Splice_Site_p.R1069_splice|RIMS1_ENST00000517960.1_Intron|RIMS1_ENST00000517827.1_Intron|RIMS1_ENST00000491071.2_Intron|RIMS1_ENST00000425662.2_Intron|RIMS1_ENST00000523963.1_Intron|RIMS1_ENST00000348717.5_Intron|RIMS1_ENST00000520567.1_Intron|RIMS1_ENST00000522291.1_Intron|RIMS1_ENST00000538414.1_Intron NM_014989.5 NP_055804.2 Q86UR5 RIMS1_HUMAN regulating synaptic membrane exocytosis 1 1133 calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 102 all_epithelial(107;0.179)|all_hematologic(105;0.212) GGGCAAACAGGGGTAGATGGT 0.463000 5 23 0 0 1 0 0 SAMM50 25813 broad.mit.edu 37 22 44385100 44385100 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr22:44385100C>T ENST00000350028.4 + 13 1342 c.1185C>T c.(1183-1185)ttC>ttT p.F395F SAMM50_ENST00000396202.3_Silent_p.F185F NM_015380.4 NP_056195.3 Q9Y512 SAM50_HUMAN SAMM50 sorting and assembly machinery component 395 protein import into mitochondrial outer membrane integral to membrane|integral to membrane of membrane fraction|mitochondrial sorting and assembly machinery complex protein binding endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222) GAACACACTTCTTTCTCAACG 0.488000 45 60 0 0 1 0 0 TENM1 10178 broad.mit.edu 37 X 123518366 123518366 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:123518366G>A ENST00000422452.2 - 30 6478 c.6415C>T c.(6415-6417)Cgc>Tgc p.R2139C TENM1_ENST00000371130.3_Missense_Mutation_p.R2132C|STAG2_ENST00000469481.1_Intron NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 p.R2134C(1) ATTACCATGCGGCCCACATTA 0.398000 81 148 0 0 1 0 0 CTNNA3 29119 broad.mit.edu 37 10 68979493 68979493 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:68979493C>T ENST00000433211.1 - 6 889 c.715G>A c.(715-717)Gac>Aac p.D239N CTNNA3_ENST00000545309.1_Missense_Mutation_p.D239N|CTNNA3_ENST00000373744.4_Missense_Mutation_p.D239N NM_013266.2 NP_037398.2 Q9UI47 CTNA3_HUMAN catenin (cadherin-associated protein), alpha 3 239 cell-cell adhesion actin cytoskeleton|cytoplasm|fascia adherens cadherin binding|structural molecule activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1) 95 CAAACTGTGTCCTTGCTTGCT 0.453000 44 70 0 0 1 0 0 IGHV3-53 28420 broad.mit.edu 37 14 107048710 107048710 + RNA SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr14:107048710G>A ENST00000390627.2 - 0 530 TCGGCTCTCAGGCTGTTCATT 0.542000 73 86 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 38933001 38933001 + Missense_Mutation SNP G G A rs118192160 TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:38933001G>A ENST00000355481.4 + 3 309 c.178G>A c.(178-180)Gat>Aat p.D60N RYR1_ENST00000360985.3_Missense_Mutation_p.D60N|RYR1_ENST00000359596.3_Missense_Mutation_p.D60N NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 60 muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) TGTGCCCCCCGATCTGGCCAT 0.632000 15 40 0 0 1 0 0 CEACAM18 729767 broad.mit.edu 37 19 51986356 51986356 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:51986356G>A ENST00000396477.4 + 4 780 c.759G>A c.(757-759)atG>atA p.M253I CEACAM18_ENST00000451626.1_Missense_Mutation_p.M314I NM_001278392.1 NP_001265321.1 A8MTB9 CEA18_HUMAN carcinoembryonic antigen-related cell adhesion molecule 18 314 integral to membrane breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1) 17 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) AAGTGGAAATGGAGTGTATCT 0.502000 71 117 0 0 1 0 0 CTDNEP1 23399 broad.mit.edu 37 17 7149394 7149394 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:7149394G>A ENST00000573600.1 - 7 961 c.540C>T c.(538-540)tcC>tcT p.S180S CTDNEP1_ENST00000572043.1_Silent_p.S47S|CTDNEP1_ENST00000318988.6_Silent_p.S180S|CTDNEP1_ENST00000574322.1_Silent_p.S180S O95476 CNEP1_HUMAN CTD nuclear envelope phosphatase 1 180 FCP1 homology. nuclear envelope organization|protein dephosphorylation endoplasmic reticulum membrane|integral to membrane|nuclear membrane protein serine/threonine phosphatase activity central_nervous_system(9)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 15 TCACAATGCTGGAGAGGTCAC 0.567000 26 42 0 0 1 0 0 HECW2 57520 broad.mit.edu 37 2 197182021 197182021 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:197182021C>T ENST00000260983.2 - 10 2593 c.2411G>A c.(2410-2412)aGg>aAg p.R804K HECW2_ENST00000409111.1_Missense_Mutation_p.R448K NM_020760.1 NP_065811.1 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 804 Interaction with TP73. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 113 CTCGTCCACCCTCTGGTACCG 0.532000 4 12 0 0 1 0 0 C3orf22 152065 broad.mit.edu 37 3 126268910 126268910 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:126268910G>A ENST00000318225.2 - 4 605 c.227C>T c.(226-228)cCa>cTa p.P76L NM_152533.1 NP_689746.1 Q8N5N4 CC022_HUMAN chromosome 3 open reading frame 22 76 large_intestine(1)|lung(3)|ovary(2)|prostate(1) 7 GBM - Glioblastoma multiforme(114;0.147) TGTAAAATCTGGAGCCCCGAG 0.612000 14 22 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179604010 179604010 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:179604010G>A ENST00000589042.1 - 48 14174 c.13950C>T c.(13948-13950)ttC>ttT p.F4650F TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Silent_p.F4333F|TTN_ENST00000359218.5_Silent_p.F4412F|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Silent_p.F4479F|TTN_ENST00000460472.2_Silent_p.F4287F|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 4333 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) GTAAACACTTGAACTTTTCAT 0.388000 10 23 0 0 1 0 0 TRIM60 166655 broad.mit.edu 37 4 165962216 165962216 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr4:165962216G>A ENST00000512596.1 + 3 1208 c.992G>A c.(991-993)aGg>aAg p.R331K TRIM60_ENST00000508504.1_Missense_Mutation_p.R331K|TRIM60_ENST00000341062.5_Missense_Mutation_p.R331K NM_152620.2 NP_689833.1 Q495X7 TRI60_HUMAN tripartite motif containing 60 331 B30.2/SPRY. intracellular zinc ion binding NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 29 all_hematologic(180;0.221) Prostate(90;0.0959)|Melanoma(52;0.18) GBM - Glioblastoma multiforme(119;0.0844) TATGACCCAAGGAGATTTTAT 0.408000 27 42 0 0 1 0 0 C7 730 broad.mit.edu 37 5 40976893 40976893 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:40976893G>A ENST00000313164.9 + 16 2475 c.2116G>A c.(2116-2118)Gag>Aag p.E706K C7_ENST00000494960.1_3'UTR NM_000587.2 NP_000578.2 P10643 CO7_HUMAN complement component 7 706 Complement control factor I module 1. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex Ovarian(839;0.0112) TCAGCGCTGGGAGAAACTGCA 0.403000 5 5 0 0 1 0 0 SHROOM2 357 broad.mit.edu 37 X 9900522 9900522 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:9900522C>T ENST00000380913.3 + 6 3289 c.3199C>T c.(3199-3201)Cca>Tca p.P1067S SHROOM2_ENST00000493668.1_3'UTR|SHROOM2_ENST00000418909.2_5'UTR NM_001649.2 NP_001640.1 Q13796 SHRM2_HUMAN shroom family member 2 1067 Poly-Pro. apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization apical plasma membrane|cell-cell adherens junction|microtubule|tight junction actin filament binding|beta-catenin binding|ligand-gated sodium channel activity breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 57 Hepatocellular(5;0.000888) GAGGCCACCGCCACCCAAGCG 0.697000 14 16 0 0 1 0 0 SLC4A7 9497 broad.mit.edu 37 3 27453224 27453224 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:27453224G>A ENST00000295736.5 - 12 1718 c.1648C>T c.(1648-1650)Cct>Tct p.P550S SLC4A7_ENST00000455077.1_Missense_Mutation_p.P431S|SLC4A7_ENST00000446700.1_Missense_Mutation_p.P542S|SLC4A7_ENST00000435667.2_Missense_Mutation_p.P435S|SLC4A7_ENST00000388777.4_Missense_Mutation_p.P100S|SLC4A7_ENST00000437179.1_Missense_Mutation_p.P431S|SLC4A7_ENST00000425128.2_Missense_Mutation_p.P542S|SLC4A7_ENST00000454389.1_Missense_Mutation_p.P559S|SLC4A7_ENST00000445684.1_Missense_Mutation_p.P546S|SLC4A7_ENST00000440156.1_Missense_Mutation_p.P546S|SLC4A7_ENST00000428386.1_Missense_Mutation_p.P426S NM_003615.4 NP_003606.3 Q9Y6M7 S4A7_HUMAN solute carrier family 4, sodium bicarbonate cotransporter, member 7 550 apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1) 38 TGAAACACAGGAATCTTTCTC 0.418000 12 22 0 0 1 0 0 NUP62 23636 broad.mit.edu 37 19 50412009 50412009 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:50412009G>A ENST00000596217.1 - 2 2943 c.1056C>T c.(1054-1056)ctC>ctT p.L352L IL4I1_ENST00000595948.1_Intron|NUP62_ENST00000422090.2_Silent_p.L352L|NUP62_ENST00000597029.1_Silent_p.L352L|NUP62_ENST00000413454.1_Silent_p.L352L|IL4I1_ENST00000341114.3_Intron|NUP62_ENST00000597723.1_Intron|NUP62_ENST00000352066.3_Silent_p.L352L P37198 NUP62_HUMAN nucleoporin 62kDa 352 carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2) 19 all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481) GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177) TGGCCTGCTGGAGGAAGTGCC 0.632000 53 98 0 0 1 0 0 GJA10 84694 broad.mit.edu 37 6 90604513 90604513 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr6:90604513G>A ENST00000369352.1 + 1 326 c.326G>A c.(325-327)aGg>aAg p.R109K NM_032602.1 NP_115991.1 Q969M2 CXA10_HUMAN gap junction protein, alpha 10, 62kDa 109 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) GACAGGCAGAGGAAAAAGTCA 0.463000 17 18 0 0 1 0 0 GABRG2 2566 broad.mit.edu 37 5 161580116 161580116 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:161580116C>T ENST00000356592.3 + 10 1630 c.1170C>T c.(1168-1170)atC>atT p.I390I GABRG2_ENST00000393933.4_Silent_p.I287I|GABRG2_ENST00000361925.4_Silent_p.I382I|GABRG2_ENST00000414552.2_Silent_p.I430I NM_000816.3|NM_198904.2 NP_000807.2|NP_944494.1 P18507 GBRG2_HUMAN gamma-aminobutyric acid (GABA) A receptor, gamma 2 382 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|protein binding NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 62 Renal(175;0.000319) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136) CCATTGATATCCGCCCAAGAT 0.488000 14 28 0 0 1 0 0 CDH9 1007 broad.mit.edu 37 5 26915831 26915831 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:26915831C>T ENST00000231021.4 - 3 602 c.430G>A c.(430-432)Gaa>Aaa p.E144K NM_016279.3 NP_057363.3 Q9ULB4 CADH9_HUMAN cadherin 9, type 2 (T1-cadherin) 144 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 137 ATGATAAATTCCGATTCCGGT 0.398000 44 92 0 0 1 0 0 DYNC1I2 1781 broad.mit.edu 37 2 172582533 172582533 + Missense_Mutation SNP T T G TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:172582533T>G ENST00000534253.2 + 9 880 c.712T>G c.(712-714)Tct>Gct p.S238A DYNC1I2_ENST00000409773.1_Missense_Mutation_p.S238A|DYNC1I2_ENST00000410079.3_Missense_Mutation_p.S230A|DYNC1I2_ENST00000508530.1_Missense_Mutation_p.S212A|DYNC1I2_ENST00000409197.1_Missense_Mutation_p.S212A|DYNC1I2_ENST00000397119.3_Missense_Mutation_p.S238A|DYNC1I2_ENST00000358002.6_Missense_Mutation_p.S230A|DYNC1I2_ENST00000340296.4_Missense_Mutation_p.S212A|DYNC1I2_ENST00000263811.4_Missense_Mutation_p.S232A|DYNC1I2_ENST00000409317.1_Missense_Mutation_p.S232A|DYNC1I2_ENST00000409453.1_Missense_Mutation_p.S238A Q13409 DC1I2_HUMAN dynein, cytoplasmic 1, intermediate chain 2 238 G2/M transition of mitotic cell cycle|interspecies interaction between organisms|microtubule-based movement|transport centrosome|cytosol|dynein complex|microtubule|vesicle microtubule motor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1) 15 OV - Ovarian serous cystadenocarcinoma(117;0.198) AAGAGCTCTTTCTGAGCAGAT 0.348000 10 14 0 0 1 0 0 AFF3 3899 broad.mit.edu 37 2 100623133 100623133 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:100623133C>T ENST00000317233.4 - 6 1069 c.834G>A c.(832-834)aaG>aaA p.K278K AFF3_ENST00000409579.1_Silent_p.K303K|AFF3_ENST00000356421.2_Silent_p.K303K|AFF3_ENST00000409236.1_Silent_p.K278K NM_002285.2 NP_002276.2 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 278 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3) 86 AGAGCTTGGCCTTGGCTCTGG 0.542000 29 32 0 0 1 0 0 SCN8A 6334 broad.mit.edu 37 12 52200862 52200862 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:52200862C>T ENST00000354534.5 + 27 5770 c.5592C>T c.(5590-5592)atC>atT p.I1864I SCN8A_ENST00000545061.1_Silent_p.I1823I NM_001177984.2|NM_014191.3 NP_001171455.1|NP_055006.1 Q9UQD0 SCN8A_HUMAN sodium channel, voltage gated, type VIII, alpha subunit 1864 axon guidance|myelination|peripheral nervous system development cytoplasmic membrane-bounded vesicle|node of Ranvier ATP binding|voltage-gated sodium channel activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 55 BRCA - Breast invasive adenocarcinoma(357;0.181) Lamotrigine(DB00555) AGTTGGACATCCTGCGGCAGC 0.557000 79 99 0 0 1 0 0 GRIA3 2892 broad.mit.edu 37 X 122551587 122551587 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:122551587C>T ENST00000264357.5 + 11 2127 c.1835C>T c.(1834-1836)tCc>tTc p.S612F GRIA3_ENST00000371256.5_Missense_Mutation_p.S612F|GRIA3_ENST00000542149.1_Missense_Mutation_p.S612F|GRIA3_ENST00000371251.1_Missense_Mutation_p.S612F|GRIA3_ENST00000541091.1_Missense_Mutation_p.S596F NM_000828.4 NP_000819.3 P42263 GRIA3_HUMAN glutamate receptor, ionotropic, AMPA 3 612 glutamate signaling pathway|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1) 57 L-Glutamic Acid(DB00142) CTTTGGTTTTCCTTGGGTGCC 0.398000 82 91 0 0 1 0 0 LRP5 4041 broad.mit.edu 37 11 68207318 68207318 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:68207318C>T ENST00000294304.7 + 21 4528 c.4422C>T c.(4420-4422)gaC>gaT p.D1474D NM_002335.2 NP_002326.2 O75197 LRP5_HUMAN low density lipoprotein receptor-related protein 5 1474 adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex protein binding|receptor activity autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 CCCTCTACGACCGGAACCACG 0.721000 5 5 0 0 1 0 0 TFDP1 7027 broad.mit.edu 37 13 114294439 114294439 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr13:114294439C>T ENST00000375370.5 + 12 1302 c.1090C>T c.(1090-1092)Ctg>Ttg p.L364L TFDP1_ENST00000538138.1_Silent_p.L265L|TFDP1_ENST00000544902.1_Silent_p.L335L NM_007111.4 NP_009042.1 Q14186 TFDP1_HUMAN transcription factor Dp-1 364 cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter transcription factor complex DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 26 Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153) all cancers(43;0.0576) TTGCAGTGACCTGACCAACGG 0.657000 TSP Lung(29;0.18) 38 53 0 0 1 0 0 SMG8 55181 broad.mit.edu 37 17 57290748 57290748 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:57290748G>A ENST00000543872.2 + 4 2828 c.2564G>A c.(2563-2565)cGa>cAa p.R855Q SMG8_ENST00000300917.5_Missense_Mutation_p.R855Q|CTD-2510F5.6_ENST00000577660.1_Intron Q8ND04 SMG8_HUMAN SMG8 nonsense mediated mRNA decay factor 855 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity protein binding NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1) 33 GAAGACTCTCGAGGTCGGAGA 0.463000 52 83 0 0 1 0 0 PKHD1 5314 broad.mit.edu 37 6 51924787 51924787 + Nonsense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr6:51924787C>T ENST00000371117.3 - 15 1447 c.1172G>A c.(1171-1173)tGg>tAg p.W391* PKHD1_ENST00000340994.4_Nonsense_Mutation_p.W391* NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 391 cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) TGCCTGAATCCAGAAAGTGTA 0.438000 28 28 0 0 1 0 0 LTF 4057 broad.mit.edu 37 3 46497462 46497462 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:46497462C>T ENST00000231751.4 - 4 618 c.323G>A c.(322-324)cGa>cAa p.R108Q LTF_ENST00000417439.1_Missense_Mutation_p.R108Q|LTF_ENST00000426532.2_Missense_Mutation_p.R64Q NM_002343.3 NP_002334.2 P02788 TRFL_HUMAN lactotransferrin 108 Transferrin-like 1. cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport extracellular region|stored secretory granule ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 40 all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089) Pefloxacin(DB00487) ATAGTGAGTTCGTGGCTCTGC 0.537000 12 12 0 0 1 0 0 FOXN3 1112 broad.mit.edu 37 14 89628854 89628854 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr14:89628854G>A ENST00000345097.4 - 7 1493 c.1377C>T c.(1375-1377)tcC>tcT p.S459S FOXN3_ENST00000557258.1_Silent_p.S437S|FOXN3_ENST00000261302.5_Silent_p.S459S|FOXN3_ENST00000555353.1_Silent_p.S437S NM_001085471.1 NP_001078940.1 O00409 FOXN3_HUMAN forkhead box N3 459 DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 AGTGCAGGAGGGACCCTGCCG 0.527000 34 50 0 0 1 0 0 JAKMIP2 9832 broad.mit.edu 37 5 147023758 147023758 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:147023758C>T ENST00000265272.5 - 7 1554 c.1087G>A c.(1087-1089)Gaa>Aaa p.E363K JAKMIP2_ENST00000507386.1_Missense_Mutation_p.E363K|JAKMIP2_ENST00000333010.6_Missense_Mutation_p.E321K NM_014790.3 NP_055605.2 Q96AA8 JKIP2_HUMAN janus kinase and microtubule interacting protein 2 363 Golgi apparatus NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2) 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTTATTTTTTCTCTCTGGATT 0.358000 24 30 0 0 1 0 0 ITPR2 3709 broad.mit.edu 37 12 26589225 26589225 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:26589225G>A ENST00000381340.3 - 48 7114 c.6698C>T c.(6697-6699)tCc>tTc p.S2233F NM_002223.2 NP_002214.2 Q14571 ITPR2_HUMAN inositol 1,4,5-trisphosphate receptor, type 2 2233 activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity ETV6/ITPR2(2) biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 125 Colorectal(261;0.0847) CAGGTTGAAGGAAATGCTCCC 0.423000 6 28 0 0 1 0 0 ZNF423 23090 broad.mit.edu 37 16 49672020 49672020 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr16:49672020G>A ENST00000561648.1 - 4 1096 c.1043C>T c.(1042-1044)cCc>cTc p.P348L ZNF423_ENST00000562520.1_Missense_Mutation_p.P288L|ZNF423_ENST00000563137.2_Missense_Mutation_p.P288L|ZNF423_ENST00000562871.1_Missense_Mutation_p.P288L|ZNF423_ENST00000262383.2_Missense_Mutation_p.P348L|ZNF423_ENST00000535559.1_Missense_Mutation_p.P231L|ZNF423_ENST00000567169.1_Missense_Mutation_p.P231L NM_001271620.1 NP_001258549.1 Q2M1K9 ZN423_HUMAN zinc finger protein 423 348 cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 89 all_cancers(37;0.0155) GCTGGAGTCGGGCTGCCGGTG 0.642000 17 11 0 0 1 0 0 CLCNKB 1188 broad.mit.edu 37 1 16383003 16383003 + Splice_Site SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:16383003G>A ENST00000375679.4 + 19 2127 c.2016_splice c.e19+1 p.E672_splice CLCNKB_ENST00000375667.3_Splice_Site_p.E502_splice NM_000085.4 NP_000076.2 chloride channel, voltage-sensitive Kb breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1) 21 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) CCTGGGTGGAGGTACCAGGGT 0.627000 OREG0013133 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 56 65 0 0 1 0 0 HEPHL1 341208 broad.mit.edu 37 11 93821974 93821974 + Nonsense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:93821974C>T ENST00000315765.9 + 12 2142 c.2134C>T c.(2134-2136)Cag>Tag p.Q712* NM_001098672.1 NP_001092142.1 Q6MZM0 HPHL1_HUMAN hephaestin-like 1 712 Plastocyanin-like 4. copper ion transport integral to membrane copper ion binding|oxidoreductase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 61 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) AGGCATGGGTCAGATCTATGA 0.502000 15 23 0 0 1 0 0 UNC5D 137970 broad.mit.edu 37 8 35402036 35402036 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:35402036C>T ENST00000453357.2 + 1 127 c.71C>T c.(70-72)tCc>tTc p.S24F UNC5D_ENST00000420357.1_Intron|UNC5D_ENST00000404895.2_Intron|UNC5D_ENST00000287272.2_Intron|UNC5D_ENST00000416672.1_Intron Q6UXZ4 UNC5D_HUMAN unc-5 homolog D (C. elegans) 0 apoptosis|axon guidance integral to membrane receptor activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2) 112 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) TTGGACTTTTCCTCCCAAACT 0.403000 24 35 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9062672 9062672 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:9062672G>A ENST00000397910.4 - 3 24977 c.24774C>T c.(24772-24774)tcC>tcT p.S8258S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 8260 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CTTCCACAGAGGATTGACTAG 0.507000 16 13 0 0 1 0 0 UBE3B 89910 broad.mit.edu 37 12 109972428 109972428 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:109972428G>A ENST00000342494.3 + 28 3643 c.3048G>A c.(3046-3048)cgG>cgA p.R1016R UBE3B_ENST00000434735.2_Silent_p.R1016R NM_130466.3 NP_569733.2 Q7Z3V4 UBE3B_HUMAN ubiquitin protein ligase E3B 1016 HECT. protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2) 45 GCGTCCTCCGGGGCTTCTTCA 0.637000 57 41 0 0 1 0 0 IL7R 3575 broad.mit.edu 37 5 35876316 35876316 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:35876316C>T ENST00000303115.3 + 8 1237 c.1108C>T c.(1108-1110)Ctg>Ttg p.L370L IL7R_ENST00000343305.4_3'UTR NM_002185.3 NP_002176.2 P16871 IL7RA_HUMAN interleukin 7 receptor 370 immune response|regulation of DNA recombination extracellular region|integral to membrane antigen binding|interleukin-7 receptor activity NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3) 126 all_lung(31;0.00015) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202) CCTCACATGCCTGGCTGGGAA 0.547000 """Mis, O""" """ALL, ETP ALL""" Severe combined immune deficiency 17 37 0 0 1 0 0 RANBP2 5903 broad.mit.edu 37 2 109399034 109399034 + Missense_Mutation SNP G G T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:109399034G>T ENST00000283195.6 + 28 9211 c.9085G>T c.(9085-9087)Gta>Tta p.V3029L NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 3029 RanBD1 4. carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 AACTAAAGAAGTAGCTGATTG 0.383000 21 27 8.10497e-08 8.16116e-08 1 1 0 LGI4 163175 broad.mit.edu 37 19 35625002 35625002 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:35625002G>A ENST00000392225.3 - 2 696 c.177C>T c.(175-177)ctC>ctT p.L59L LGI4_ENST00000591633.1_Silent_p.L59L|LGI4_ENST00000493050.1_5'UTR|LGI4_ENST00000310123.3_Silent_p.L59L Q8N135 LGI4_HUMAN leucine-rich repeat LGI family, member 4 59 extracellular region endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849) CCGTCCTGACGAGTGAGCTGG 0.617000 4 4 0 0 1 0 0 ITGAM 3684 broad.mit.edu 37 16 31332936 31332936 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr16:31332936C>T ENST00000544665.3 + 16 2064 c.1993C>T c.(1993-1995)Cgg>Tgg p.R665W ITGAM_ENST00000287497.8_Missense_Mutation_p.R664W NM_000632.3|NM_001145808.1 NP_000623.2|NP_001139280.1 P11215 ITAM_HUMAN integrin, alpha M (complement component 3 receptor 3 subunit) 664 blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration integrin complex glycoprotein binding|receptor activity endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1) 56 CACACGGGATCGGCTAAGAGA 0.527000 30 46 0 0 1 0 0 FLNB 2317 broad.mit.edu 37 3 58090940 58090940 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:58090940C>T ENST00000357272.4 + 11 1909 c.1744C>T c.(1744-1746)Ctg>Ttg p.L582L FLNB_ENST00000295956.4_Silent_p.L582L|FLNB_ENST00000419752.2_Silent_p.L413L|FLNB_ENST00000358537.3_Silent_p.L582L|FLNB_ENST00000348383.5_Silent_p.L582L|FLNB_ENST00000490882.1_Silent_p.L582L|FLNB_ENST00000429972.2_Silent_p.L582L|FLNB_ENST00000493452.1_Silent_p.L413L O75369 FLNB_HUMAN filamin B, beta 582 actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5) 120 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) AGTGGGGTCTCTGGGTAAGTG 0.587000 21 36 0 0 1 0 0 SLCO1C1 53919 broad.mit.edu 37 12 20876184 20876184 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:20876184G>A ENST00000381552.1 + 9 1550 c.1182G>A c.(1180-1182)gtG>gtA p.V394V SLCO1C1_ENST00000266509.2_Silent_p.V394V|SLCO1C1_ENST00000540354.1_Silent_p.V345V|SLCO1C1_ENST00000545604.1_Silent_p.V394V|SLCO1C1_ENST00000545102.1_Silent_p.V276V Q9NYB5 SO1C1_HUMAN solute carrier organic anion transporter family, member 1C1 394 sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 60 Esophageal squamous(101;0.149) CCAACTTTGTGATCGGTATGC 0.458000 27 40 0 0 1 0 0 MAP9 79884 broad.mit.edu 37 4 156281504 156281504 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr4:156281504G>A ENST00000311277.4 - 7 1129 c.866C>T c.(865-867)tCa>tTa p.S289L AC097467.2_ENST00000597831.1_RNA|AC097467.2_ENST00000598890.1_RNA|AC097467.2_ENST00000596754.1_RNA|AC097467.2_ENST00000594666.1_RNA|AC097467.2_ENST00000596165.1_RNA|AC097467.2_ENST00000594492.1_RNA|AC097467.2_ENST00000600928.1_RNA|AC097467.2_ENST00000417474.1_RNA|MAP9_ENST00000515654.1_Intron NM_001039580.1 NP_001034669.1 Q49MG5 MAP9_HUMAN microtubule-associated protein 9 289 cell division|mitosis cytoplasm|microtubule|spindle NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 26 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.143) TGCTGAAAATGAATTCTCTTT 0.363000 8 30 0 0 1 0 0 GRK6 2870 broad.mit.edu 37 5 176863228 176863228 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:176863228C>T ENST00000355472.5 + 12 1380 c.1212C>T c.(1210-1212)gtC>gtT p.V404V GRK6_ENST00000528793.1_Silent_p.V404V|GRK6_ENST00000355958.5_Silent_p.V404V|GRK6_ENST00000393576.3_Silent_p.V370V|GRK6_ENST00000507633.1_Silent_p.V404V NM_001004106.2|NM_002082.3 NP_001004106.1|NP_002073.2 P43250 GRK6_HUMAN G protein-coupled receptor kinase 6 404 Protein kinase. regulation of G-protein coupled receptor protein signaling pathway membrane ATP binding|G-protein coupled receptor kinase activity|signal transducer activity breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1) 25 all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TGAAGGAGGTCCCCGAGGAGT 0.632000 25 46 0 0 1 0 0 TMEM132B 114795 broad.mit.edu 37 12 125811183 125811183 + Missense_Mutation SNP C C A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:125811183C>A ENST00000299308.3 + 1 22 c.14C>A c.(13-15)gCa>gAa p.A5E TMEM132B_ENST00000418253.2_Intron NM_052907.2 NP_443139.2 Q14DG7 T132B_HUMAN transmembrane protein 132B 5 integral to membrane NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1) 107 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362) TTTGGTGCAGCATCCAGAATG 0.582000 8 15 0.000274275 0.000275016 1 1 0 LRP1B 53353 broad.mit.edu 37 2 141055433 141055433 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:141055433C>T ENST00000389484.3 - 84 13882 c.12911G>A c.(12910-12912)gGa>gAa p.G4304E NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 4304 EGF-like 12. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding 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) AGGCTGGTTTCCAGCAGTCAC 0.498000 TSP Lung(27;0.18) 61 101 0 0 1 0 0 NUP210L 91181 broad.mit.edu 37 1 154099876 154099876 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:154099876C>T ENST00000368559.3 - 9 1167 c.1096G>A c.(1096-1098)Gga>Aga p.G366R NUP210L_ENST00000271854.3_Missense_Mutation_p.G366R NM_207308.2 NP_997191.2 Q5VU65 P210L_HUMAN nucleoporin 210kDa-like 366 integral to membrane NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2) 80 all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128) LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198) CATCGGTTTCCAGGTTGGACA 0.358000 16 17 0 0 1 0 0 ABCC1 4363 broad.mit.edu 37 16 16218717 16218717 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr16:16218717C>T ENST00000399408.2 + 26 3867 c.3692C>T c.(3691-3693)tCc>tTc p.S1231F ABCC1_ENST00000349029.5_Missense_Mutation_p.S1106F|ABCC1_ENST00000345148.5_Missense_Mutation_p.S1221F|ABCC1_ENST00000346370.5_Missense_Mutation_p.S1165F|ABCC1_ENST00000399410.3_Missense_Mutation_p.S1221F|ABCC1_ENST00000351154.5_Missense_Mutation_p.S1162F P33527 MRP1_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 1 1221 ABC transmembrane type-1 2. 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) GCGGTGATCTCCAGGCACAGC 0.552000 22 40 0 0 1 0 0 SLC6A6 6533 broad.mit.edu 37 3 14508063 14508063 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:14508063C>T ENST00000454876.2 + 7 1101 c.772C>T c.(772-774)Ctg>Ttg p.L258L SLC6A6_ENST00000360861.3_Silent_p.L258L P31641 SC6A6_HUMAN solute carrier family 6 (neurotransmitter transporter), member 6 258 cellular amino acid metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2) 28 CGCCATGCTCCTGGTGCTGCT 0.597000 43 73 0 0 1 0 0 ZNF678 339500 broad.mit.edu 37 1 227842474 227842474 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:227842474C>T ENST00000343776.4 + 4 868 c.523C>T c.(523-525)Cat>Tat p.H175Y ZNF678_ENST00000498759.1_Intron|ZNF678_ENST00000397097.3_Missense_Mutation_p.H230Y F5GXA7 F5GXA7_HUMAN zinc finger protein 678 230 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1) 24 Prostate(94;0.0885) TAAGAAAATTCATACTGGAGA 0.343000 24 67 0 0 1 0 0 UPK2 7379 broad.mit.edu 37 11 118828850 118828850 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:118828850G>A ENST00000264031.2 + 5 497 c.462G>A c.(460-462)ggG>ggA p.G154G UPK2_ENST00000534788.1_3'UTR NM_006760.3 NP_006751.1 O00526 UPK2_HUMAN uroplakin 2 154 cellular membrane organization|epithelial cell differentiation|multicellular organismal development integral to endoplasmic reticulum membrane|integral to plasma membrane kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1) 5 all_hematologic(175;0.0839) Medulloblastoma(222;0.0523)|all_hematologic(192;0.122)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;7.47e-05) CCCGCACAGGGGGCATGGTGG 0.617000 31 51 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179606172 179606172 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:179606172C>T ENST00000589042.1 - 48 12012 c.11788G>A c.(11788-11790)Gaa>Aaa p.E3930K TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.E3613K|TTN_ENST00000359218.5_Missense_Mutation_p.E3692K|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E3759K|TTN_ENST00000460472.2_Missense_Mutation_p.E3567K|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 3613 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) CCCAGCTTTTCCAGAGATTTT 0.438000 63 93 0 0 1 0 0 TRIM56 81844 broad.mit.edu 37 7 100732060 100732060 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:100732060C>T ENST00000306085.6 + 3 1764 c.1467C>T c.(1465-1467)ccC>ccT p.P489P NM_030961.1 NP_112223.1 Q9BRZ2 TRI56_HUMAN tripartite motif containing 56 489 defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon cytoplasm ubiquitin-protein ligase activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Lung NSC(181;0.136)|all_lung(186;0.182) GCCTCCTCCCCAGACCCATCT 0.622000 81 97 0 0 1 0 0 ZNF646 9726 broad.mit.edu 37 16 31089073 31089073 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr16:31089073C>T ENST00000394979.2 + 1 1851 c.1428C>T c.(1426-1428)caC>caT p.H476H ZNF646_ENST00000300850.5_Silent_p.H476H O15015 ZN646_HUMAN zinc finger protein 646 476 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3) 49 CTTACCGCCACCGGGGGAGCC 0.617000 17 17 0 0 1 0 0 PLEKHA6 22874 broad.mit.edu 37 1 204237425 204237425 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:204237425G>A ENST00000272203.3 - 4 434 c.118C>T c.(118-120)Cgc>Tgc p.R40C PLEKHA6_ENST00000414478.1_Missense_Mutation_p.R40C NM_014935.4 NP_055750.2 Q9Y2H5 PKHA6_HUMAN pleckstrin homology domain containing, family A member 6 40 breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_cancers(21;0.0222)|Breast(84;0.179) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229) ACGGCTTTGCGGGCTGTGCGA 0.607000 7 18 0 0 1 0 0 ZMYM5 9205 broad.mit.edu 37 13 20425891 20425891 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr13:20425891G>A ENST00000337963.4 - 3 694 c.430C>T c.(430-432)Cct>Tct p.P144S ZMYM5_ENST00000382907.4_Missense_Mutation_p.P144S|ZMYM5_ENST00000382905.4_Missense_Mutation_p.P144S NM_001142684.1 NP_001136156.1 Q9UJ78 ZMYM5_HUMAN zinc finger, MYM-type 5 144 nucleus zinc ion binding kidney(1)|large_intestine(5)|lung(9) 15 all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431) TTAGTTCCAGGAAGTCCCCAT 0.373000 32 61 0 0 1 0 0 IQUB 154865 broad.mit.edu 37 7 123092827 123092827 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:123092827C>T ENST00000466202.1 - 13 2922 c.2346G>A c.(2344-2346)aaG>aaA p.K782K IQUB_ENST00000324698.6_Silent_p.K782K Q8NA54 IQUB_HUMAN IQ motif and ubiquitin domain containing 782 breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1) 45 ATTCTATAATCTTAGGTGTTG 0.403000 25 31 0 0 1 0 0 CCT6B 10693 broad.mit.edu 37 17 33269644 33269644 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:33269644G>A ENST00000314144.5 - 7 859 c.744C>T c.(742-744)ttC>ttT p.F248F CCT6B_ENST00000421975.3_Silent_p.F211F|CCT6B_ENST00000436961.3_Silent_p.F203F NM_006584.3 NP_006575.2 Q92526 TCPW_HUMAN chaperonin containing TCP1, subunit 6B (zeta 2) 248 chaperone-mediated protein complex assembly|protein folding|spermatogenesis cytoplasm ATP binding|protein transporter activity|unfolded protein binding NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1) 20 Ovarian(249;0.17) TCTTATAAAAGAAACCAGAGT 0.328000 17 28 0 0 1 0 0 CACNA2D4 93589 broad.mit.edu 37 12 2027518 2027518 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:2027518G>A ENST00000382722.5 - 1 484 c.122C>T c.(121-123)cCc>cTc p.P41L CACNA2D4_ENST00000585732.1_Missense_Mutation_p.P41L|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.P41L|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.P41L|RP5-1096D14.3_ENST00000544163.1_RNA NM_172364.4 NP_758952.4 Q7Z3S7 CA2D4_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 4 41 integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 39 Ovarian(42;0.107) Myeloproliferative disorder(1001;0.206) OV - Ovarian serous cystadenocarcinoma(31;0.00113) Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451) CCAGGCCACGGGCATTGGCTG 0.652000 15 4 0 0 1 0 0 TCEB3B 51224 broad.mit.edu 37 18 44560513 44560513 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr18:44560513C>T ENST00000332567.4 - 1 1475 c.1123G>A c.(1123-1125)Gaa>Aaa p.E375K KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron NM_016427.2 NP_057511.2 Q8IYF1 ELOA2_HUMAN transcription elongation factor B polypeptide 3B (elongin A2) 375 regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 TGCTCGAATTCCTCAGCCATA 0.517000 27 44 0 0 1 0 0 ARMC3 219681 broad.mit.edu 37 10 23321901 23321901 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:23321901G>A ENST00000298032.5 + 18 2442 c.2358G>A c.(2356-2358)ccG>ccA p.P786P ARMC3_ENST00000409983.3_Silent_p.P779P|ARMC3_ENST00000376528.4_Silent_p.P523P NM_173081.3 NP_775104.2 Q5W041 ARMC3_HUMAN armadillo repeat containing 3 786 binding breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 ATGTTATACCGATTGGACATG 0.353000 23 35 0 0 1 0 0 DACH2 117154 broad.mit.edu 37 X 85403797 85403797 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:85403797G>A ENST00000373131.1 + 1 336 c.173G>A c.(172-174)gGc>gAc p.G58D DACH2_ENST00000373125.4_Missense_Mutation_p.G58D NM_001139514.1 NP_001132986.1 Q96NX9 DACH2_HUMAN dachshund homolog 2 (Drosophila) 58 Poly-Gly. 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 GCCGGAGGCGGCGGCAGGGGC 0.572000 35 33 0 0 1 0 0 RGS7 6000 broad.mit.edu 37 1 240976931 240976931 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:240976931C>T ENST00000366565.1 - 13 1324 c.943G>A c.(943-945)Gaa>Aaa p.E315K RGS7_ENST00000401882.1_Missense_Mutation_p.E262K|RGS7_ENST00000348120.2_Missense_Mutation_p.E262K|RGS7_ENST00000446183.2_Missense_Mutation_p.E231K|RGS7_ENST00000407727.1_Missense_Mutation_p.E315K|RGS7_ENST00000366564.1_Missense_Mutation_p.E315K|RGS7_ENST00000366562.4_Missense_Mutation_p.E315K|RGS7_ENST00000366563.1_Missense_Mutation_p.E315K|RGS7_ENST00000331110.7_Missense_Mutation_p.E289K NM_002924.4 NP_002915.3 P49802 RGS7_HUMAN regulator of G-protein signaling 7 315 G protein gamma. G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|protein binding|signal transducer activity breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 all_cancers(173;0.0131) OV - Ovarian serous cystadenocarcinoma(106;0.027) GCCTCAAGTTCCCAGAAAGTG 0.433000 25 9 0 0 1 0 0 NBN 4683 broad.mit.edu 37 8 90958431 90958431 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:90958431G>A ENST00000265433.3 - 13 2161 c.2007C>T c.(2005-2007)tcC>tcT p.S669S NBN_ENST00000409330.1_Silent_p.S587S NM_002485.4 NP_002476.2 O60934 NBN_HUMAN nibrin 669 cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm protein N-terminus binding|transcription factor binding autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 27 BRCA - Breast invasive adenocarcinoma(11;0.0344) ATGGATTTCTGGAAGTAGAGT 0.323000 Homologous recombination 20 51 0 0 1 0 0 GALM 130589 broad.mit.edu 37 2 38908571 38908571 + Silent SNP C C T rs146126828 by1000genomes TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:38908571C>T ENST00000272252.5 + 3 747 c.495C>T c.(493-495)gcC>gcT p.A165A GALM_ENST00000410063.1_Intron NM_138801.2 NP_620156.1 Q96C23 GALM_HUMAN galactose mutarotase (aldose 1-epimerase) 165 hexose metabolic process cytoplasm aldose 1-epimerase activity|carbohydrate binding NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 14 all_hematologic(82;0.248) GAGCACAAGCCAGTCAGGCCA 0.507000 46 66 0 0 1 0 0 ZNF407 55628 broad.mit.edu 37 18 72347414 72347414 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr18:72347414C>T ENST00000299687.5 + 1 4439 c.4439C>T c.(4438-4440)cCg>cTg p.P1480L ZNF407_ENST00000577538.1_Missense_Mutation_p.P1480L|ZNF407_ENST00000309902.6_Missense_Mutation_p.P1480L|ZNF407_ENST00000582337.1_Missense_Mutation_p.P1480L NM_017757.2 NP_060227.2 Q9C0G0 ZN407_HUMAN zinc finger protein 407 1480 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2) 67 Esophageal squamous(42;0.131)|Prostate(75;0.173) BRCA - Breast invasive adenocarcinoma(31;0.184) GAGGAGCTTCCGGAGGGAGGG 0.473000 10 13 0 0 1 0 0 CRYM 1428 broad.mit.edu 37 16 21278917 21278917 + Missense_Mutation SNP T T G TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr16:21278917T>G ENST00000219599.3 - 7 896 c.631A>C c.(631-633)Att>Ctt p.I211L CRYM_ENST00000543948.1_Missense_Mutation_p.I211L|CRYM_ENST00000415987.2_Missense_Mutation_p.I169L|CRYM_ENST00000396023.2_Missense_Mutation_p.I211L NM_001888.3 NP_001879.1 Q14894 CRYM_HUMAN crystallin, mu 211 negative regulation of transcription from RNA polymerase II promoter|sensory perception of sound|thyroid hormone transport cytoplasm|nucleus|plasma membrane NADP binding|protein homodimerization activity|thyroid hormone binding|transcription corepressor activity large_intestine(1)|lung(3) 4 GBM - Glioblastoma multiforme(48;0.0573) Levothyroxine(DB00451) CCAAACAAAATGGGCTCTGTT 0.552000 23 24 0 0 1 0 0 ZC3H18 124245 broad.mit.edu 37 16 88653042 88653042 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr16:88653042C>T ENST00000301011.5 + 3 838 c.638C>T c.(637-639)cCc>cTc p.P213L ZC3H18_ENST00000452588.2_Missense_Mutation_p.P213L NM_144604.3 NP_653205.3 Q86VM9 ZCH18_HUMAN zinc finger CCCH-type containing 18 213 nucleus nucleic acid binding|zinc ion binding endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 42 BRCA - Breast invasive adenocarcinoma(80;0.0542) GTGAAGGACCCCAGTGACAGG 0.552000 7 26 0 0 1 0 0 NXF3 56000 broad.mit.edu 37 X 102339350 102339350 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:102339350C>T ENST00000395065.3 - 3 372 c.271G>A c.(271-273)Gag>Aag p.E91K NXF3_ENST00000425644.1_5'UTR|NXF3_ENST00000425463.2_Missense_Mutation_p.E2K NM_022052.1 NP_071335.1 Q9H4D5 NXF3_HUMAN nuclear RNA export factor 3 91 cytoplasm|nuclear RNA export factor complex nucleocytoplasmic transporter activity|nucleotide binding|protein binding NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 TGCTCTCTCTCCATGTTAACG 0.473000 65 99 0 0 1 0 0 BTNL3 10917 broad.mit.edu 37 5 180424258 180424258 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:180424258G>A ENST00000342868.6 + 3 627 c.443G>A c.(442-444)gGa>gAa p.G148E NM_197975.2 NP_932079.1 Q6UXE8 BTNL3_HUMAN butyrophilin-like 3 148 Ig-like V-type. lipid metabolic process integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1) 25 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272) TATGTTGACGGAGGTATCCAG 0.502000 32 69 0 0 1 0 0 SCN10A 6336 broad.mit.edu 37 3 38805034 38805034 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:38805034C>T ENST00000449082.2 - 5 652 c.653G>A c.(652-654)aGa>aAa p.R218K NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 218 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) TCTAAGAACTCTGAATGTCCG 0.453000 34 66 0 0 1 0 0 AMBN 258 broad.mit.edu 37 4 71468991 71468991 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr4:71468991C>T ENST00000322937.6 + 10 766 c.663C>T c.(661-663)gcC>gcT p.A221A AMBN_ENST00000449493.2_Silent_p.A206A NM_016519.5 NP_057603.1 Q9NP70 AMBN_HUMAN ameloblastin (enamel matrix protein) 221 bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth proteinaceous extracellular matrix growth factor activity|structural constituent of tooth enamel NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1) 29 Lung(101;0.235) TCCAAATAGCCCGTTTGATTT 0.318000 6 22 0 0 1 0 0 ABI3 51225 broad.mit.edu 37 17 47299452 47299452 + Splice_Site SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:47299452G>A ENST00000225941.1 + 7 1300 c.e7-1 ABI3_ENST00000419580.2_Splice_Site NM_001135186.1|NM_016428.2 NP_001128658.1|NP_057512.1 Q9P2A4 ABI3_HUMAN ABI family, member 3 cellular component movement|regulation of cell migration cytoplasm|lamellipodium protein binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 12 Epithelial(5;6.37e-06)|all cancers(6;6.36e-05) TTTCCCCCAAGACGAAGAGCT 0.587000 HNSCC(55;0.14) 45 98 0 0 1 0 0 PAGE4 9506 broad.mit.edu 37 X 49597227 49597227 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:49597227C>T ENST00000218068.6 + 4 345 c.266C>T c.(265-267)cCt>cTt p.P89L PAGE4_ENST00000376141.1_Missense_Mutation_p.P89L NM_007003.2 NP_008934.1 O60829 GAGC1_HUMAN P antigen family, member 4 (prostate associated) 89 Ovarian(276;0.236) CCACCTAATCCTAAGCATGCT 0.408000 38 40 0 0 1 0 0 PEX5L 51555 broad.mit.edu 37 3 179537752 179537752 + Missense_Mutation SNP A A G TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:179537752A>G ENST00000467460.1 - 9 1165 c.835T>C c.(835-837)Ttt>Ctt p.F279L PEX5L_ENST00000485199.1_Missense_Mutation_p.F244L|PEX5L_ENST00000476138.1_Missense_Mutation_p.F236L|PEX5L_ENST00000468741.1_Missense_Mutation_p.F87L|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000465751.1_Missense_Mutation_p.F255L|PEX5L_ENST00000464614.1_Missense_Mutation_p.F171L|PEX5L_ENST00000392649.3_Missense_Mutation_p.F171L|PEX5L_ENST00000263962.8_Missense_Mutation_p.F277L|PEX5L_ENST00000472994.1_Missense_Mutation_p.F220L NM_001256751.1|NM_016559.2 NP_001243680.1|NP_057643.1 Q8IYB4 PEX5R_HUMAN peroxisomal biogenesis factor 5-like 279 protein import into peroxisome matrix|regulation of cAMP-mediated signaling cytosol|peroxisomal membrane peroxisome matrix targeting signal-1 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183) OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518) TTATCCCAAAACTCTGTATCT 0.438000 36 65 0 0 1 0 0 SLC5A8 160728 broad.mit.edu 37 12 101576605 101576605 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:101576605G>A ENST00000536262.2 - 9 1699 c.1141C>T c.(1141-1143)Ctg>Ttg p.L381L NM_145913.3 NP_666018.3 Q8N695 SC5A8_HUMAN solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8 381 apoptosis|sodium ion transport apical plasma membrane|integral to membrane monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 47 ATCCAAGACAGAGACCTTTCT 0.383000 59 19 0 0 1 0 0 CPT1A 1374 broad.mit.edu 37 11 68552336 68552336 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:68552336G>A ENST00000265641.5 - 10 1264 c.1110C>T c.(1108-1110)acC>acT p.T370T CPT1A_ENST00000540367.1_Silent_p.T370T|CPT1A_ENST00000539743.1_Silent_p.T370T|CPT1A_ENST00000376618.2_Silent_p.T370T NM_001876.3 NP_001867.2 P50416 CPT1A_HUMAN carnitine palmitoyltransferase 1A (liver) 370 carnitine shuttle|fatty acid beta-oxidation integral to membrane|mitochondrial outer membrane carnitine O-palmitoyltransferase activity NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Esophageal squamous(3;3.28e-14) LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142) L-Carnitine(DB00583)|Perhexiline(DB01074) GAGGCTCCGAGGTATTGTCCA 0.642000 25 43 0 0 1 0 0 TMEM35 59353 broad.mit.edu 37 X 100334063 100334063 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:100334063G>A ENST00000372930.4 + 1 355 c.72G>A c.(70-72)ggG>ggA p.G24G NM_021637.2 NP_067650.1 Q53FP2 TMM35_HUMAN transmembrane protein 35 24 cytoplasmic membrane-bounded vesicle|integral to membrane|peroxisomal membrane NS(1)|large_intestine(3)|liver(1)|skin(1)|urinary_tract(1) 7 TTTTCATGGGGACTATCAAGC 0.557000 27 19 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37028492 37028492 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:37028492C>T ENST00000358047.3 + 1 2061 c.2009C>T c.(2008-2010)cCc>cTc p.P670L NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 670 breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 CCCCCGGAGCCCCCCGAGACT 0.642000 46 37 0 0 1 0 0 TRPV5 56302 broad.mit.edu 37 7 142625949 142625949 + Missense_Mutation SNP A A G TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:142625949A>G ENST00000265310.1 - 6 947 c.599T>C c.(598-600)tTa>tCa p.L200S TRPV5_ENST00000442623.1_Missense_Mutation_p.L200S NM_019841.4 NP_062815.2 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, subfamily V, member 5 200 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) GAGGATGTGTAATACTGTGTT 0.567000 57 52 0 0 1 0 0 KIF1A 547 broad.mit.edu 37 2 241726675 241726675 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:241726675G>A ENST00000498729.2 - 5 668 c.422C>T c.(421-423)tCc>tTc p.S141F KIF1A_ENST00000320389.7_Missense_Mutation_p.S141F NM_001244008.1 NP_001230937.1 Q12756 KIF1A_HUMAN kinesin family member 1A 141 Kinesin-motor. anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 66 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) TACCTCCACGGAGTAGGACAT 0.627000 30 12 0 0 1 0 0 SASH1 23328 broad.mit.edu 37 6 148840782 148840782 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr6:148840782C>T ENST00000367467.3 + 10 1437 c.962C>T c.(961-963)cCt>cTt p.P321L NM_015278.3 NP_056093.3 O94885 SASH1_HUMAN SAM and SH3 domain containing 1 321 protein binding breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Ovarian(120;0.0169) OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701) GATGGCTCTCCTGAGAAACCT 0.582000 33 17 0 0 1 0 0 NUMBL 9253 broad.mit.edu 37 19 41188694 41188694 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:41188694G>A ENST00000252891.4 - 5 505 c.338C>T c.(337-339)tCc>tTc p.S113F NUMBL_ENST00000598779.1_Missense_Mutation_p.S72F|NUMBL_ENST00000540131.1_Missense_Mutation_p.S72F NM_004756.3 NP_004747.1 Q9Y6R0 NUMBL_HUMAN numb homolog (Drosophila)-like 113 PID. cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process cytoplasm protein binding NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2) 16 Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105) AGACTTCACGGACTTTCGGCC 0.652000 37 30 0 0 1 0 0 ENTPD1 953 broad.mit.edu 37 10 97583064 97583064 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:97583064G>A ENST00000371207.3 + 2 186 c.123G>A c.(121-123)gtG>gtA p.V41V ENTPD1_ENST00000490659.1_3'UTR|ENTPD1_ENST00000371205.4_Silent_p.V29V|ENTPD1_ENST00000453258.2_Silent_p.V36V|ENTPD1_ENST00000371203.5_5'UTR|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1_ENST00000543964.1_Intron|ENTPD1_ENST00000539125.1_5'UTR NM_001164178.1 NP_001157650.1 P49961 ENTP1_HUMAN ectonucleoside triphosphate diphosphohydrolase 1 29 cell adhesion integral to plasma membrane ATP binding cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1) 16 Colorectal(252;0.0821) Epithelial(162;1.31e-07)|all cancers(201;5.33e-06) TCATAGCTGTGATAGCTTTGC 0.403000 23 48 0 0 1 0 0 ZBTB8A 653121 broad.mit.edu 37 1 33058894 33058894 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:33058894C>T ENST00000373510.4 + 3 591 c.362C>T c.(361-363)tCc>tTc p.S121F RP1-27O5.3_ENST00000480336.1_3'UTR|ZBTB8A_ENST00000316459.4_Missense_Mutation_p.S121F NM_001040441.1 NP_001035531.1 Q96BR9 ZBT8A_HUMAN zinc finger and BTB domain containing 8A 121 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(2)|large_intestine(2)|lung(2)|prostate(1) 7 ATTAAATCTTCCTTAGACATT 0.378000 19 83 0 0 1 0 0 KIF26A 26153 broad.mit.edu 37 14 104638927 104638927 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr14:104638927G>A ENST00000315264.7 + 6 1303 c.925G>A c.(925-927)Ggg>Agg p.G309R KIF26A_ENST00000423312.2_Missense_Mutation_p.G448R Q9ULI4 KI26A_HUMAN kinesin family member 26A 448 blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus cytosol|microtubule ATP binding|microtubule binding|microtubule motor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 21 all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767) Epithelial(46;0.152) Epithelial(152;0.161) AGTCTGCTCGGGGACCGTGGC 0.637000 13 20 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179442205 179442205 + Missense_Mutation SNP T T G TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:179442205T>G ENST00000589042.1 - 324 69081 c.68857A>C c.(68857-68859)Aaa>Caa p.K22953Q TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K20385Q|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.K21312Q|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K14013Q|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K14080Q|TTN_ENST00000460472.2_Missense_Mutation_p.K13888Q|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 21312 Fibronectin type-III 66. 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) AGCCCATCTTTTATTGTGGGA 0.363000 15 14 0 0 1 0 0 SLITRK6 84189 broad.mit.edu 37 13 86368629 86368629 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr13:86368629C>T ENST00000400286.2 - 2 2613 c.2015G>A c.(2014-2016)aGa>aAa p.R672K NM_032229.2 NP_115605.2 Q9H5Y7 SLIK6_HUMAN SLIT and NTRK-like family, member 6 672 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_neural(89;0.117)|Medulloblastoma(90;0.163) GBM - Glioblastoma multiforme(99;0.0456) GGCAGAGGGTCTTTCAGTAGT 0.443000 73 130 0 0 1 0 0 PCDHB3 56132 broad.mit.edu 37 5 140481617 140481617 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:140481617G>A ENST00000231130.2 + 1 1384 c.1384G>A c.(1384-1386)Gag>Aag p.E462K AC005754.7_ENST00000607216.1_RNA NM_018937.2 NP_061760.1 Q9Y5E6 PCDB3_HUMAN 462 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding p.E462K(1) NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 72 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GTTCGTCCGCGAGAACAACAG 0.602000 50 111 0 0 1 0 0 OR2L3 391192 broad.mit.edu 37 1 248224262 248224262 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:248224262C>T ENST00000359959.3 + 1 279 c.279C>T c.(277-279)ttC>ttT p.F93F OR2L13_ENST00000366478.2_Intron NM_001004687.1 NP_001004687.1 Q8NG85 OR2L3_HUMAN olfactory receptor, family 2, subfamily L, member 3 93 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1) 41 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) CTATCTCCTTCACTGGGTGTG 0.433000 42 146 0 0 1 0 0 F13A1 2162 broad.mit.edu 37 6 6266848 6266848 + Nonsense_Mutation SNP G G A rs121913065 TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr6:6266848G>A ENST00000264870.3 - 4 779 c.514C>T c.(514-516)Cga>Tga p.R172* NM_000129.3 NP_000120.2 P00488 F13A_HUMAN coagulation factor XIII, A1 polypeptide 172 peptide cross-linking|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 62 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) CGACTGGTTCGAAGTACGCCA 0.458000 4 69 0 0 1 0 0 ZNF331 55422 broad.mit.edu 37 19 54081122 54081122 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:54081122G>A ENST00000253144.9 + 7 2641 c.1308G>A c.(1306-1308)gcG>gcA p.A436A ZNF331_ENST00000449416.1_Silent_p.A436A|ZNF331_ENST00000512387.1_Silent_p.A436A|ZNF331_ENST00000511154.1_Silent_p.A436A|ZNF331_ENST00000511593.2_Silent_p.A436A|ZNF331_ENST00000513999.1_Silent_p.A436A|ZNF331_ENST00000411977.2_Silent_p.A436A NM_001253801.1|NM_018555.5 NP_001240730.1|NP_061025.5 Q9NQX6 ZN331_HUMAN zinc finger protein 331 436 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 10 GBM - Glioblastoma multiforme(134;0.00555) ACAGTGGGGCGAAATCCTACG 0.488000 T ? follicular thyroid adenoma 17 20 0 0 1 0 0 TRAF3 7187 broad.mit.edu 37 14 103369699 103369699 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr14:103369699C>T ENST00000560371.1 + 10 1285 c.1068C>T c.(1066-1068)tcC>tcT p.S356S TRAF3_ENST00000539721.1_Silent_p.S273S|TRAF3_ENST00000392745.2_Silent_p.S356S|TRAF3_ENST00000347662.4_Silent_p.S331S|TRAF3_ENST00000351691.5_Silent_p.S331S NM_003300.3|NM_145725.2 NP_003291.2|NP_663777.1 Q13114 TRAF3_HUMAN TNF receptor-associated factor 3 356 apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2) 30 all_cancers(154;7.87e-06)|all_epithelial(191;0.0024) Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971) GCGTGGAGTCCCTCCAGAACC 0.632000 28 55 0 0 1 0 0 TRPM6 140803 broad.mit.edu 37 9 77416932 77416932 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr9:77416932C>T ENST00000451710.3 - 16 2128 c.1891G>A c.(1891-1893)Gga>Aga p.G631R TRPM6_ENST00000361255.3_Missense_Mutation_p.G626R|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000360774.1_Missense_Mutation_p.G631R|TRPM6_ENST00000449912.2_Missense_Mutation_p.G626R|TRPM6_ENST00000376864.4_Missense_Mutation_p.G631R|TRPM6_ENST00000376872.3_Intron Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, subfamily M, member 6 631 response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 GCCTCCTCTCCATGCTGCCAG 0.512000 34 12 0 0 1 0 0 PRMT7 54496 broad.mit.edu 37 16 68373238 68373238 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr16:68373238C>T ENST00000339507.5 + 8 1348 c.518C>T c.(517-519)gCc>gTc p.A173V PRMT7_ENST00000441236.1_Missense_Mutation_p.A123V|PRMT7_ENST00000348497.4_Missense_Mutation_p.A99V|PRMT7_ENST00000564441.1_3'UTR|PRMT7_ENST00000449359.3_Missense_Mutation_p.A123V Q9NVM4 ANM7_HUMAN protein arginine methyltransferase 7 173 cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent cytosol|nucleus [myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|urinary_tract(1) 20 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629) AATTGTGAGGCCGTGCCCCAC 0.463000 21 43 0 0 1 0 0 RREB1 6239 broad.mit.edu 37 6 7232112 7232112 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr6:7232112C>T ENST00000379938.2 + 10 4317 c.3780C>T c.(3778-3780)tcC>tcT p.S1260S RREB1_ENST00000334984.6_Silent_p.S1260S|RREB1_ENST00000349384.6_Silent_p.S1260S|RREB1_ENST00000379933.3_Silent_p.S1260S NM_001003699.3|NM_001003700.1 NP_001003699.1|NP_001003700.1 Q92766 RREB1_HUMAN ras responsive element binding protein 1 1260 multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter cytoplasm|nuclear speck DNA binding|zinc ion binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) GGGCCAGCTCCCTACAGAGGC 0.607000 16 11 0 0 1 0 0 PDE1A 5136 broad.mit.edu 37 2 183104926 183104926 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:183104926C>T ENST00000435564.1 - 3 509 c.309G>A c.(307-309)cgG>cgA p.R103R PDE1A_ENST00000482538.1_5'UTR|PDE1A_ENST00000410103.1_Silent_p.R103R|PDE1A_ENST00000409365.1_Silent_p.R87R|PDE1A_ENST00000536095.1_5'UTR|PDE1A_ENST00000351439.5_Silent_p.R87R|PDE1A_ENST00000346717.4_Silent_p.R69R|PDE1A_ENST00000358139.2_Silent_p.R103R|PDE1A_ENST00000456212.1_Silent_p.R103R|PDE1A_ENST00000331935.6_Silent_p.R103R NM_001258312.1|NM_005019.4 NP_001245241.1|NP_005010.2 P54750 PDE1A_HUMAN phosphodiesterase 1A, calmodulin-dependent 103 activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(117;0.061) TCCCCATTTTCCGTGTAAAGG 0.423000 42 81 0 0 1 0 0 PNCK 139728 broad.mit.edu 37 X 152938046 152938046 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:152938046C>T ENST00000393831.2 - 3 609 c.175G>A c.(175-177)Gag>Aag p.E59K PNCK_ENST00000447676.2_Missense_Mutation_p.E142K|PNCK_ENST00000370150.1_Missense_Mutation_p.E59K|PNCK_ENST00000340888.3_Missense_Mutation_p.E59K|PNCK_ENST00000370145.4_Missense_Mutation_p.E76K|PNCK_ENST00000475172.1_5'UTR|PNCK_ENST00000370142.1_Missense_Mutation_p.E59K NM_001039582.3 NP_001034671.3 Q6P2M8 KCC1B_HUMAN pregnancy up-regulated nonubiquitous CaM kinase 59 Protein kinase. cytoplasm|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity breast(2)|lung(3)|skin(1) 6 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) ATCTCGTTCTCCACCAGGGCC 0.682000 57 70 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152283284 152283284 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:152283284G>A ENST00000368799.1 - 3 4113 c.4078C>T c.(4078-4080)Cgc>Tgc p.R1360C FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1360 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity p.R1360S(1) 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) TGCTGGTGGCGGGATCCATGT 0.542000 Ichthyosis 91 321 0 0 1 0 0 IFIT3 3437 broad.mit.edu 37 10 91099089 91099089 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:91099089G>A ENST00000371818.4 + 2 857 c.677G>A c.(676-678)gGa>gAa p.G226E LIPA_ENST00000487618.1_Intron|IFIT3_ENST00000371811.4_Missense_Mutation_p.G226E|LIPA_ENST00000371837.1_Intron NM_001549.4 NP_001540.2 O14879 IFIT3_HUMAN interferon-induced protein with tetratricopeptide repeats 3 226 type I interferon-mediated signaling pathway protein binding breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1) 15 GAAGCTGAAGGAGAGCAGTTT 0.443000 28 27 0 0 1 0 0 DLGAP4 22839 broad.mit.edu 37 20 35060384 35060384 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr20:35060384C>T ENST00000373913.3 + 3 744 c.264C>T c.(262-264)ttC>ttT p.F88F DLGAP4_ENST00000401952.2_Silent_p.F88F|DLGAP4_ENST00000339266.5_Silent_p.F88F|DLGAP4_ENST00000373907.2_Silent_p.F88F Q9Y2H0 DLGP4_HUMAN discs, large (Drosophila) homolog-associated protein 4 88 cell-cell signaling membrane protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 37 Breast(12;0.0192) Myeloproliferative disorder(115;0.00878) AGAGCCCCTTCCCCAGCCATG 0.627000 34 68 0 0 1 0 0 KRTAP5-1 387264 broad.mit.edu 37 11 1605992 1605992 + Missense_Mutation SNP G G A rs60899198 TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:1605992G>A ENST00000382171.2 - 1 521 c.488C>T c.(487-489)tCc>tTc p.S163F KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA NM_001005922.1 NP_001005922.1 Q6L8H4 KRA51_HUMAN keratin associated protein 5-1 163 8 X 4 AA repeats of C-C-X-P. keratin filament endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1) 16 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) GGCCCCCTTGGAGCACCCACA 0.652000 46 106 0 0 1 0 0 SAG 6295 broad.mit.edu 37 2 234229349 234229349 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:234229349G>A ENST00000409110.1 + 5 485 c.255G>A c.(253-255)agG>agA p.R85R SAG_ENST00000461532.1_3'UTR|SAG_ENST00000449594.2_5'UTR NM_000541.4 NP_000532.2 P10523 ARRS_HUMAN S-antigen; retina and pineal gland (arrestin) 85 rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway protein phosphatase inhibitor activity cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 9 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054) Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207) CCTTCCGCAGGGACCTGTACT 0.587000 3 6 0 0 1 0 0 NPPA 4878 broad.mit.edu 37 1 11907497 11907497 + Splice_Site SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:11907497C>T ENST00000376480.3 - 2 222 c.e2-1 NPPA-AS1_ENST00000400892.2_RNA|NPPA_ENST00000376476.1_Splice_Site|NPPA-AS1_ENST00000446542.1_RNA NM_006172.3 NP_006163.1 P01160 ANF_HUMAN natriuretic peptide A cGMP biosynthetic process|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size extracellular region hormone activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 10 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) CCAGCAAATTCTTTAGAAAAG 0.498000 20 31 0 0 1 0 0 ZNF473 25888 broad.mit.edu 37 19 50549887 50549887 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:50549887C>T ENST00000595661.1 + 6 2682 c.2187C>T c.(2185-2187)ccC>ccT p.P729P CTD-2126E3.3_ENST00000599410.1_RNA|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000445728.3_Silent_p.P717P|ZNF473_ENST00000270617.3_Silent_p.P729P|ZNF473_ENST00000391821.2_Silent_p.P729P|ZNF473_ENST00000601364.1_Intron Q8WTR7 ZN473_HUMAN zinc finger protein 473 729 histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription Cajal body DNA binding|protein binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 37 all_neural(266;0.0459)|Ovarian(192;0.0728) GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058) GTGAGAAGCCCTATGTATGTG 0.493000 OREG0025632 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 29 53 0 0 1 0 0 CSRNP3 80034 broad.mit.edu 37 2 166533061 166533061 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:166533061C>T ENST00000314499.7 + 6 1024 c.648C>T c.(646-648)tgC>tgT p.C216C CSRNP3_ENST00000409420.1_Silent_p.C248C|CSRNP3_ENST00000342316.4_Silent_p.C216C NM_001172173.1 NP_001165644.1 Q8WYN3 CSRN3_HUMAN cysteine-serine-rich nuclear protein 3 216 Cys-rich. apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2) 33 GCTGTGACTGCCGAGTGTTCT 0.547000 30 57 0 0 1 0 0 STEAP1B 256227 broad.mit.edu 37 7 22532215 22532215 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:22532215G>A ENST00000404369.4 - 4 1146 c.731C>T c.(730-732)tCt>tTt p.S244F STEAP1B_ENST00000406890.2_Missense_Mutation_p.S225F NM_001164460.1 NP_001157932.1 Q6NZ63 STEAL_HUMAN STEAP family member 1B 225 integral to membrane electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity endometrium(1)|kidney(1)|lung(2) 4 CCATGTCAAAGAGTCACTCAC 0.358000 22 23 0 0 1 0 0 DHX37 57647 broad.mit.edu 37 12 125435018 125435018 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:125435018G>A ENST00000308736.2 - 23 3160 c.3062C>T c.(3061-3063)cCa>cTa p.P1021L DHX37_ENST00000544745.1_Missense_Mutation_p.P808L NM_032656.3 NP_116045.2 Q8IY37 DHX37_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 37 1021 ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3) 65 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653) TGTAGGGGCTGGTTCCTCCAG 0.667000 10 43 0 0 1 0 0 ZSCAN10 84891 broad.mit.edu 37 16 3140553 3140553 + Silent SNP T T G TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr16:3140553T>G ENST00000252463.2 - 5 804 c.717A>C c.(715-717)gcA>gcC p.A239A ZSCAN10_ENST00000538082.2_Silent_p.A157A|ZSCAN10_ENST00000575108.1_5'UTR|ZSCAN10_ENST00000572548.1_3'UTR NM_032805.1 NP_116194.1 Q96SZ4 ZSC10_HUMAN zinc finger and SCAN domain containing 10 239 negative regulation of transcription, DNA-dependent|viral reproduction nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1) 24 CAGGACTATCTGCCTGGGACT 0.622000 40 49 0 0 1 0 0 LST3 0 broad.mit.edu 37 12 21243032 21243032 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:21243032G>A ENST00000540229.1 + 16 2304 c.2239G>A c.(2239-2241)Gaa>Aaa p.E747K SLCO1B7_ENST00000421593.2_Missense_Mutation_p.E639K|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.E747K|RP11-125O5.2_ENST00000590779.1_Intron|LST3_ENST00000381541.3_Missense_Mutation_p.E686K|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.E686K TTCTGCTGAAGAACAGTAAAG 0.323000 5 8 0 0 1 0 0 KCNH2 3757 broad.mit.edu 37 7 150642493 150642493 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:150642493G>A ENST00000392968.2 - 13 4272 c.3152C>T c.(3151-3153)tCc>tTc p.S1051F KCNH2_ENST00000330883.4_Missense_Mutation_p.S807F|KCNH2_ENST00000262186.5_Missense_Mutation_p.S1147F Q12809 KCNH2_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 2 1147 blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent voltage-gated potassium channel complex delayed rectifier potassium channel activity|two-component sensor activity NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 42 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661) CAGGGGCTGGGAGGTGAGGGC 0.706000 4 3 0 0 1 0 0 PGAM4 441531 broad.mit.edu 37 X 77224941 77224941 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:77224941C>T ENST00000458128.1 - 1 194 c.195G>A c.(193-195)cgG>cgA p.R65R ATP7A_ENST00000343533.5_Intron|ATP7A_ENST00000341514.6_Intron|ATP7A_ENST00000350425.4_Intron NM_001029891.2 NP_001025062.1 Q8N0Y7 PGAM4_HUMAN phosphoglycerate mutase family member 4 65 glycolysis 2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity endometrium(2)|lung(4) 6 TCCAGAGGGTCCGGATCACTC 0.607000 83 152 0 0 1 0 0 TRPM6 140803 broad.mit.edu 37 9 77416931 77416931 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr9:77416931C>T ENST00000451710.3 - 16 2129 c.1892G>A c.(1891-1893)gGa>gAa p.G631E TRPM6_ENST00000361255.3_Missense_Mutation_p.G626E|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000360774.1_Missense_Mutation_p.G631E|TRPM6_ENST00000449912.2_Missense_Mutation_p.G626E|TRPM6_ENST00000376864.4_Missense_Mutation_p.G631E|TRPM6_ENST00000376872.3_Intron Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, subfamily M, member 6 631 response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 GGCCTCCTCTCCATGCTGCCA 0.517000 34 13 0 0 1 0 0 IGHA2 3494 broad.mit.edu 37 14 106054673 106054673 + RNA SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr14:106054673C>T ENST00000390539.2 - 0 59 CGACCACGTTCCCATCTTGGG 0.632000 34 50 0 0 1 0 0 ZNF112 7665 broad.mit.edu 37 19 44832347 44832347 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:44832347C>T ENST00000354340.4 - 4 2014 c.1963G>A c.(1963-1965)Gga>Aga p.G655R ZNF112_ENST00000337401.4_Missense_Mutation_p.G661R|ZNF112_ENST00000536500.1_Missense_Mutation_p.G678R NM_013380.3 NP_037512.3 zinc finger protein 112 GGTTTTTCTCCTGTGTGAACC 0.453000 40 82 0 0 1 0 0 PGR 5241 broad.mit.edu 37 11 100933207 100933207 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:100933207G>A ENST00000325455.5 - 4 3636 c.2183C>T c.(2182-2184)tCa>tTa p.S728L PGR_ENST00000263463.5_Intron|PGR_ENST00000534013.1_Missense_Mutation_p.S134L NM_000926.4|NM_001202474.1 NP_000917.3|NP_001189403.1 P06401 PRGR_HUMAN progesterone receptor 728 Steroid-binding. cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 36 Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014) LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164) Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396) CTTGACTACTGAAAGAAGTTG 0.343000 41 67 0 0 1 0 0 XIST 7503 broad.mit.edu 37 X 73067622 73067622 + RNA SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:73067622C>T ENST00000429829.1 - 0 4966 NR_001564.2 TTTCCAGCATCCCTTTCTATA 0.368000 19 34 0 0 1 0 0 DALRD3 55152 broad.mit.edu 37 3 49055218 49055218 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:49055218G>A ENST00000440857.1 - 4 747 c.45C>T c.(43-45)gcC>gcT p.A15A DALRD3_ENST00000395462.4_Silent_p.A15A|DALRD3_ENST00000341949.4_Silent_p.A182A|DALRD3_ENST00000441576.2_Silent_p.A182A|DALRD3_ENST00000313778.5_Silent_p.A15A|DALRD3_ENST00000496568.1_5'UTR Q5D0E6 DALD3_HUMAN DALR anticodon binding domain containing 3 182 arginyl-tRNA aminoacylation cytoplasm arginine-tRNA ligase activity|ATP binding breast(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1) 12 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) CTCTCTCCGAGGCAGCGGGCC 0.642000 12 24 0 0 1 0 0 BMPER 168667 broad.mit.edu 37 7 34125373 34125373 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:34125373G>A ENST00000297161.2 + 14 1788 c.1414G>A c.(1414-1416)Gaa>Aaa p.E472K BMPER_ENST00000426693.1_Missense_Mutation_p.E472K NM_133468.4 NP_597725.1 Q8N8U9 BMPER_HUMAN BMP binding endothelial regulator 472 VWFD. blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation extracellular space breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 TCTAGGTTTGGAAATATCTTG 0.428000 18 16 0 0 1 0 0 COL22A1 169044 broad.mit.edu 37 8 139611072 139611072 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:139611072G>A ENST00000303045.6 - 61 4701 c.4255C>T c.(4255-4257)Cca>Tca p.P1419S COL22A1_ENST00000435777.1_Missense_Mutation_p.P1399S|COL22A1_ENST00000341807.4_5'UTR NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 1419 Collagen-like 14.|Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) TTGTGGCCTGGGATTCCAGGG 0.592000 HNSCC(7;0.00092) 27 47 0 0 1 0 0 GPATCH3 63906 broad.mit.edu 37 1 27224201 27224201 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:27224201G>A ENST00000361720.5 - 2 490 c.467C>T c.(466-468)cCc>cTc p.P156L NM_022078.2 NP_071361.2 Q96I76 GPTC3_HUMAN G patch domain containing 3 156 intracellular nucleic acid binding endometrium(2)|large_intestine(1)|lung(11)|skin(1) 15 all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419) GGTCTTGAAGGGAAAGGAGCC 0.517000 5 15 0 0 1 0 0 ZNF345 25850 broad.mit.edu 37 19 37367893 37367893 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:37367893G>A ENST00000529555.1 + 2 949 c.161G>A c.(160-162)aGa>aAa p.R54K ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000420450.1_Missense_Mutation_p.R54K|ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000589046.1_Missense_Mutation_p.R54K Q14585 ZN345_HUMAN zinc finger protein 345 54 negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter nucleus DNA binding|zinc ion binding p.R54I(1) breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1) 24 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CAGCATCAGAGAATTCATACT 0.393000 40 59 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145296495 145296495 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:145296495C>T ENST00000342960.5 + 3 452 c.417C>T c.(415-417)tcC>tcT p.S139S NBPF10_ENST00000369338.1_Intron|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 139 NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) CGGACAAGTCCCAGGGGCAGG 0.592000 67 136 0 0 1 0 0 ZNF646 9726 broad.mit.edu 37 16 31089074 31089074 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr16:31089074C>T ENST00000394979.2 + 1 1852 c.1429C>T c.(1429-1431)Cgg>Tgg p.R477W ZNF646_ENST00000300850.5_Missense_Mutation_p.R477W O15015 ZN646_HUMAN zinc finger protein 646 477 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding p.R477W(1) NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3) 49 TTACCGCCACCGGGGGAGCCT 0.617000 17 18 0 0 1 0 0 ZFYVE1 53349 broad.mit.edu 37 14 73464926 73464926 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr14:73464926G>A ENST00000556143.1 - 3 1301 c.581C>T c.(580-582)tCt>tTt p.S194F ZFYVE1_ENST00000318876.5_Missense_Mutation_p.S194F|ZFYVE1_ENST00000553891.1_Missense_Mutation_p.S194F NM_021260.2 NP_067083.1 Q9HBF4 ZFYV1_HUMAN zinc finger, FYVE domain containing 1 194 endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm 1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1) 35 all_lung(585;1.33e-09) OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349) GAGAGTATGAGACTTTCCATC 0.438000 24 67 0 0 1 0 0 SMARCA1 6594 broad.mit.edu 37 X 128602775 128602775 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:128602775G>A ENST00000371122.4 - 21 2802 c.2673C>T c.(2671-2673)tcC>tcT p.S891S SMARCA1_ENST00000371123.1_Silent_p.S879S|SMARCA1_ENST00000371121.3_Silent_p.S879S NM_003069.3 NP_003060.2 P28370 SMCA1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 891 SANT 1. ATP-dependent chromatin remodeling|brain development|neuron differentiation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent NURF complex ATP binding|DNA binding|helicase activity|nucleosome binding|protein binding biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1) 45 CCTCCTCAGGGGATTTGCCCT 0.333000 59 52 0 0 1 0 0 WAS 7454 broad.mit.edu 37 X 48549500 48549500 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:48549500G>A ENST00000376701.4 + 12 1531 c.1456G>A c.(1456-1458)Gaa>Aaa p.E486K NM_000377.2 NP_000368.1 P42768 WASP_HUMAN Wiskott-Aldrich syndrome 486 Asp/Glu-rich (acidic). blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway actin cytoskeleton|cytosol identical protein binding|small GTPase regulator activity p.E486K(1) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1) 28 all_lung(315;1.27e-10) CCCTCCAGACGAAGGGGAGGA 0.582000 """Mis, N, F, S""" lymphoma 20 39 0 0 1 0 0 PLXNB1 5364 broad.mit.edu 37 3 48456348 48456348 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:48456348G>A ENST00000358536.4 - 21 4338 c.4069C>T c.(4069-4071)Ctt>Ttt p.L1357F PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000465117.1_5'UTR|PLXNB1_ENST00000296440.6_Missense_Mutation_p.L1357F|PLXNB1_ENST00000358459.4_Missense_Mutation_p.L1174F|PLXNB1_ENST00000456774.1_Missense_Mutation_p.L1174F NM_002673.4 NP_002664.2 O43157 PLXB1_HUMAN plexin B1 1357 IPT/TIG 3. axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) AGGTTGTCAAGGATAAATTCC 0.602000 36 74 0 0 1 0 0 LATS2 26524 broad.mit.edu 37 13 21565463 21565463 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr13:21565463G>A ENST00000382592.4 - 3 828 c.423C>T c.(421-423)taC>taT p.Y141Y LATS2_ENST00000542899.1_Silent_p.Y141Y|LATS2_ENST00000472754.1_5'UTR NM_014572.2 NP_055387.2 Q9NRM7 LATS2_HUMAN large tumor suppressor kinase 2 141 cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity microtubule organizing center|nucleus|spindle pole ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2) 45 all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244) all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104) TCGGGTCCAGGTAGCCCATCT 0.582000 21 44 0 0 1 0 0 PLA2R1 22925 broad.mit.edu 37 2 160807911 160807911 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:160807911G>A ENST00000283243.7 - 24 3686 c.3480C>T c.(3478-3480)ttC>ttT p.F1160F PLA2R1_ENST00000392771.1_Silent_p.F1160F NM_001195641.1|NM_007366.4 NP_001182570.1|NP_031392.3 Q13018 PLA2R_HUMAN phospholipase A2 receptor 1, 180kDa 1160 C-type lectin 7. endocytosis extracellular space|integral to plasma membrane receptor activity|sugar binding PLA2R1/RBMS1(2) central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 60 CAACAGTGAGGAAGGACTGGT 0.433000 34 63 0 0 1 0 0 PCDHB5 26167 broad.mit.edu 37 5 140517377 140517377 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:140517377C>T ENST00000231134.5 + 1 2578 c.2361C>T c.(2359-2361)gcC>gcT p.A787A NM_015669.2 NP_056484.1 Q9Y5E4 PCDB5_HUMAN 787 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 81 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AAACTGCTGCCTTCCGGAATA 0.468000 39 81 0 0 1 0 0 FAM127A 8933 broad.mit.edu 37 X 134166728 134166728 + Silent SNP T T C TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:134166728T>C ENST00000257013.7 + 1 396 c.315T>C c.(313-315)ttT>ttC p.F105F FAM127A_ENST00000464369.1_Intron NM_001078171.1 NP_001071639.1 A6ZKI3 F127A_HUMAN family with sequence similarity 127, member A 105 endometrium(3)|urinary_tract(1) 4 Acute lymphoblastic leukemia(192;0.000127) AGCGAGTCTTTGGATGGGAGG 0.652000 25 37 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113812430 113812430 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:113812430C>T ENST00000297405.5 - 13 2177 c.1933G>A c.(1933-1935)Gaa>Aaa p.E645K CSMD3_ENST00000343508.3_Missense_Mutation_p.E605K|CSMD3_ENST00000455883.2_Missense_Mutation_p.E541K|CSMD3_ENST00000352409.3_Missense_Mutation_p.E645K NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 645 CUB 3. 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 CCAACACTTTCGTCCGTTTGA 0.378000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 24 50 0 0 1 0 0 ADAM21P1 145241 broad.mit.edu 37 14 70713045 70713045 + RNA SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr14:70713045G>A ENST00000530196.1 - 0 1473 NR_003951.1 AAAGCACAGGGAGCCCCAGGC 0.488000 20 30 0 0 1 0 0 LAMC1 3915 broad.mit.edu 37 1 183072553 183072553 + Missense_Mutation SNP G G C TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:183072553G>C ENST00000258341.4 + 2 766 c.509G>C c.(508-510)gGg>gCg p.G170A NM_002293.3 NP_002284.3 P11047 LAMC1_HUMAN laminin, gamma 1 (formerly LAMB2) 170 Laminin N-terminal. axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex extracellular matrix structural constituent NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3) 76 Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CGGGAAGACGGGCCCTGGATT 0.562000 38 54 0 0 1 0 0 NDN 4692 broad.mit.edu 37 15 23931733 23931733 + Nonsense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr15:23931733C>T ENST00000331837.4 - 1 717 c.632G>A c.(631-633)tGg>tAg p.W211* NM_002487.2 NP_002478.1 Q99608 NECD_HUMAN necdin, melanoma antigen (MAGE) family member 211 MAGE. negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perikaryon DNA binding breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1) 39 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153) CAGCACGTTCCAGACGGCGCT 0.622000 Prader-Willi syndrome 15 18 0 0 1 0 0 SLC4A4 8671 broad.mit.edu 37 4 72412180 72412180 + Silent SNP C C T rs112375238 TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr4:72412180C>T ENST00000340595.3 + 16 2620 c.2424C>T c.(2422-2424)atC>atT p.I808I SLC4A4_ENST00000425175.1_Silent_p.I852I|SLC4A4_ENST00000351898.6_Intron|SLC4A4_ENST00000264485.5_Silent_p.I852I NM_003759.3 NP_003750.1 Q9Y6R1 S4A4_HUMAN solute carrier family 4 (sodium bicarbonate cotransporter), member 4 852 basolateral plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 58 Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225) TTGCTCACATCGACAGTTTGA 0.478000 9 39 0 0 1 0 0 IQUB 154865 broad.mit.edu 37 7 123092828 123092828 + Missense_Mutation SNP T T A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:123092828T>A ENST00000466202.1 - 13 2921 c.2345A>T c.(2344-2346)aAg>aTg p.K782M IQUB_ENST00000324698.6_Missense_Mutation_p.K782M Q8NA54 IQUB_HUMAN IQ motif and ubiquitin domain containing 782 breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1) 45 TTCTATAATCTTAGGTGTTGT 0.398000 25 29 0 0 1 0 0 IQUB 154865 broad.mit.edu 37 7 123152129 123152129 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:123152129G>A ENST00000466202.1 - 2 842 c.266C>T c.(265-267)tCa>tTa p.S89L IQUB_ENST00000324698.6_Missense_Mutation_p.S89L|IQUB_ENST00000488987.1_Intron|IQUB_ENST00000434450.1_Missense_Mutation_p.S89L Q8NA54 IQUB_HUMAN IQ motif and ubiquitin domain containing 89 breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1) 45 CGGAGTATATGAAACTTGTCT 0.388000 41 100 0 0 1 0 0 SCRIB 23513 broad.mit.edu 37 8 144887383 144887383 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:144887383G>A ENST00000356994.2 - 19 2575 c.2569C>T c.(2569-2571)Ctc>Ttc p.L857F SCRIB_ENST00000320476.3_Missense_Mutation_p.L857F|SCRIB_ENST00000377533.3_Missense_Mutation_p.L776F NM_182706.4 NP_874365.3 Q14160 SCRIB_HUMAN scribbled planar cell polarity protein 857 Interaction with ARHGEF7. activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction cell-cell adherens junction|Scrib-APC-beta-catenin complex protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 42 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) CGCTGACGGAGGGGCCCGGGG 0.721000 5 5 0 0 1 0 0 PRKRIR 5612 broad.mit.edu 37 11 76062454 76062454 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:76062454G>A ENST00000260045.3 - 5 1845 c.1740C>T c.(1738-1740)gtC>gtT p.V580V NM_004705.2 NP_004696.2 O43422 P52K_HUMAN protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) 580 negative regulation of cell proliferation|response to stress|signal transduction DNA binding|metal ion binding|protein dimerization activity cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 25 CCACTGTTGGGACACTTAGGG 0.423000 24 47 0 0 1 0 0 SOX13 9580 broad.mit.edu 37 1 204091058 204091058 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:204091058C>T ENST00000367204.1 + 8 915 c.806C>T c.(805-807)cCc>cTc p.P269L NM_005686.2 NP_005677.2 Q9UN79 SOX13_HUMAN SRY (sex determining region Y)-box 13 269 Pro-rich. anatomical structure morphogenesis nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2) 13 all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109) CTGCACAGCCCCCCTGCCCCA 0.622000 12 14 0 0 1 0 0 GCAT 23464 broad.mit.edu 37 22 38212608 38212608 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr22:38212608C>T ENST00000323205.6 + 9 1284 c.1221C>T c.(1219-1221)gtC>gtT p.V407V GCAT_ENST00000248924.6_Silent_p.V381V NM_001171690.1 NP_001165161.1 O75600 KBL_HUMAN glycine C-acetyltransferase 381 biosynthetic process|cellular amino acid metabolic process glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1) 12 Melanoma(58;0.045) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) ACCCCGTGGTCCCCAAGGGCA 0.612000 27 54 0 0 1 0 0 ETV1 2115 broad.mit.edu 37 7 13971342 13971342 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:13971342G>A ENST00000343495.5 - 8 1271 c.533C>T c.(532-534)tCc>tTc p.S178F ETV1_ENST00000405358.4_Missense_Mutation_p.S210F|ETV1_ENST00000242066.5_Missense_Mutation_p.S178F|ETV1_ENST00000405192.2_Missense_Mutation_p.S196F|ETV1_ENST00000420159.2_Missense_Mutation_p.S138F|ETV1_ENST00000403685.1_Missense_Mutation_p.S178F|ETV1_ENST00000430479.1_Missense_Mutation_p.S196F|ETV1_ENST00000405218.2_Missense_Mutation_p.S196F|ETV1_ENST00000399357.3_Missense_Mutation_p.S93F|ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000403527.1_Missense_Mutation_p.S156F P50549 ETV1_HUMAN ets variant 1 196 transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 31 AGGAGGAAAGGAGTTACAGGG 0.483000 T """EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3""" """Ewing sarcoma, prostate""" 21 19 0 0 1 0 0 FAXDC2 10826 broad.mit.edu 37 5 154214494 154214494 + Splice_Site SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:154214494C>T ENST00000326080.5 - 3 472 c.48_splice c.e3-1 p.E17_splice FAXDC2_ENST00000520968.1_Splice_Site_p.E17_splice|FAXDC2_ENST00000517938.1_5'UTR|FAXDC2_ENST00000518651.1_5'UTR|FAXDC2_ENST00000523997.1_5'UTR NM_032385.3 NP_115761.2 fatty acid hydroxylase domain containing 2 ATGTGTCCCTCCTGGAGGAGG 0.572000 3 4 0 0 1 0 0 ZNF395 55893 broad.mit.edu 37 8 28218604 28218604 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:28218604G>A ENST00000344423.5 - 2 169 c.38C>T c.(37-39)tCc>tTc p.S13F ZNF395_ENST00000523202.1_Missense_Mutation_p.S13F|ZNF395_ENST00000523095.1_Missense_Mutation_p.S13F NM_018660.2 NP_061130.1 Q9H8N7 ZN395_HUMAN zinc finger protein 395 13 transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 Ovarian(32;2.06e-05) KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142) TCCCAGGAGGGACCGCTTTCC 0.692000 22 41 0 0 1 0 0 ZNF253 56242 broad.mit.edu 37 19 20002339 20002339 + Nonsense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:20002339C>T ENST00000589717.1 + 4 375 c.283C>T c.(283-285)Caa>Taa p.Q95* ZNF253_ENST00000355650.4_Nonsense_Mutation_p.Q19* NM_021047.2 NP_066385.2 O75346 ZN253_HUMAN zinc finger protein 253 95 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 AAATTCTTTCCAAATAGGGAT 0.368000 10 24 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11047504 11047504 + RNA SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr21:11047504G>A ENST00000470054.1 - 0 750 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) CCGTTGGTTGGTACAGATTTC 0.343000 19 235 0 0 1 0 0 ACSM1 116285 broad.mit.edu 37 16 20651842 20651842 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr16:20651842C>T ENST00000307493.4 - 7 1124 c.1057G>A c.(1057-1059)Gag>Aag p.E353K ACSM1_ENST00000219151.4_5'UTR|ACSM1_ENST00000520010.1_Missense_Mutation_p.E353K NM_052956.2 NP_443188.2 Q08AH1 ACSM1_HUMAN acyl-CoA synthetase medium-chain family member 1 353 benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process mitochondrial matrix acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2) 42 TTCCACTCCTCCTGATCCTTG 0.562000 31 43 0 0 1 0 0 RPS6KA6 27330 broad.mit.edu 37 X 83402052 83402052 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:83402052G>A ENST00000262752.2 - 5 362 c.355C>T c.(355-357)Cgg>Tgg p.R119W RPS6KA6_ENST00000543399.1_Missense_Mutation_p.R119W NM_014496.4 NP_055311.1 Q9UK32 KS6A6_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 6 119 Protein kinase 1. axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 46 ATCTTTGTCCGAACTCTGTCT 0.289000 33 47 0 0 1 0 0 HBG2 3048 broad.mit.edu 37 11 5274590 5274590 + Nonsense_Mutation SNP T T A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:5274590T>A ENST00000380259.2 - 8 1601 c.361A>T c.(361-363)Aaa>Taa p.K121* HBG2_ENST00000336906.4_Nonsense_Mutation_p.K121*|HBG2_ENST00000380252.1_Nonsense_Mutation_p.K111* hemoglobin, gamma G endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2) 13 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GTGAATTCTTTGCCGAAATGG 0.522000 26 43 0 0 1 0 0 TRIM60 166655 broad.mit.edu 37 4 165962293 165962293 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr4:165962293G>A ENST00000512596.1 + 3 1285 c.1069G>A c.(1069-1071)Gga>Aga p.G357R TRIM60_ENST00000508504.1_Missense_Mutation_p.G357R|TRIM60_ENST00000341062.5_Missense_Mutation_p.G357R NM_152620.2 NP_689833.1 Q495X7 TRI60_HUMAN tripartite motif containing 60 357 B30.2/SPRY. intracellular zinc ion binding NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 29 all_hematologic(180;0.221) Prostate(90;0.0959)|Melanoma(52;0.18) GBM - Glioblastoma multiforme(119;0.0844) AGTAGAAGTGGGAAACAAACC 0.473000 33 40 0 0 1 0 0 GNAT1 2779 broad.mit.edu 37 3 50230823 50230823 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:50230823G>A ENST00000232461.3 + 3 389 c.275G>A c.(274-276)gGa>gAa p.G92E GNAT1_ENST00000433068.1_Missense_Mutation_p.G92E NM_144499.2 NP_653082.1 P11488 GNAT1_HUMAN guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1 92 detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|negative regulation of cyclic-nucleotide phosphodiesterase activity|rhodopsin mediated phototransduction|sensory perception of umami taste heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane acyl binding|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GDP binding|GTP binding|GTPase activity|protein kinase binding|signal transducer activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) ATCCAGTACGGAGACTCTGCA 0.647000 26 30 0 0 1 0 0 LRRTM4 80059 broad.mit.edu 37 2 77746694 77746694 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:77746694C>T ENST00000409088.3 - 3 715 c.301G>A c.(301-303)Gat>Aat p.D101N LRRTM4_ENST00000409282.1_Missense_Mutation_p.D102N|LRRTM4_ENST00000409884.1_Missense_Mutation_p.D101N|LRRTM4_ENST00000409911.1_Missense_Mutation_p.D102N|LRRTM4_ENST00000409093.1_Missense_Mutation_p.D101N NM_024993.4 NP_079269.4 Q86VH4 LRRT4_HUMAN leucine rich repeat transmembrane neuronal 4 101 integral to membrane autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1) 64 Colorectal(11;0.059) GCATCTTCATCCACTGAGCTA 0.373000 17 45 0 0 1 0 0 TMED8 283578 broad.mit.edu 37 14 77812760 77812760 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr14:77812760G>A ENST00000216468.7 - 3 314 c.259C>T c.(259-261)Cct>Tct p.P87S NM_213601.1 NP_998766.1 Q6PL24 TMED8_HUMAN transmembrane emp24 protein transport domain containing 8 87 transport integral to membrane breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4) 15 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0281) GCCTCCAAAGGACCAGTTGCT 0.512000 21 51 0 0 1 0 0 RBM12B 389677 broad.mit.edu 37 8 94747912 94747912 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:94747912C>T ENST00000399300.2 - 3 940 c.727G>A c.(727-729)Gag>Aag p.E243K RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Missense_Mutation_p.E243K NM_203390.2 NP_976324.2 Q8IXT5 RB12B_HUMAN RNA binding motif protein 12B 243 nucleotide binding|RNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 30 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.0168) ACGTCACCCTCCTTAACTGCA 0.378000 51 81 0 0 1 0 0 TTLL12 23170 broad.mit.edu 37 22 43576771 43576771 + Nonsense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr22:43576771G>A ENST00000216129.6 - 3 586 c.523C>T c.(523-525)Cag>Tag p.Q175* NM_015140.3 NP_055955.1 Q14166 TTL12_HUMAN tubulin tyrosine ligase-like family, member 12 175 protein modification process tubulin-tyrosine ligase activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1) 13 Ovarian(80;0.221)|Glioma(61;0.222) TGGTAGGTCTGGTTGAACTTC 0.652000 58 93 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 186084396 186084396 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:186084396C>T ENST00000271588.4 + 75 11640 c.11411C>T c.(11410-11412)cCa>cTa p.P3804L HMCN1_ENST00000367492.2_Missense_Mutation_p.P3804L NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 3804 Ig-like C2-type 37. 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 TTAGTTCCTCCATCTATTGCT 0.388000 24 85 0 0 1 0 0 KIF1C 10749 broad.mit.edu 37 17 4923830 4923830 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:4923830C>T ENST00000320785.5 + 20 2151 c.1794C>T c.(1792-1794)aaC>aaT p.N598N KIF1C_ENST00000573815.1_3'UTR NM_006612.5 NP_006603.2 O43896 KIF1C_HUMAN kinesin family member 1C 598 microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER endoplasmic reticulum|Golgi apparatus|microtubule ATP binding|microtubule motor activity NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3) 30 TCCGCTTCAACCACCCGGAGC 0.582000 20 41 0 0 1 0 0 TTLL5 23093 broad.mit.edu 37 14 76245981 76245981 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr14:76245981C>T ENST00000298832.9 + 24 2656 c.2451C>T c.(2449-2451)ttC>ttT p.F817F TTLL5_ENST00000557636.1_Silent_p.F831F|TTLL5_ENST00000555422.1_3'UTR|TTLL5_ENST00000556893.1_Silent_p.F368F|TTLL5_ENST00000554510.1_Silent_p.F326F NM_015072.4 NP_055887.3 Q6EMB2 TTLL5_HUMAN tubulin tyrosine ligase-like family, member 5 817 protein modification process|transcription, DNA-dependent centrosome|cilium|microtubule basal body|nucleus tubulin-tyrosine ligase activity NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2) 50 BRCA - Breast invasive adenocarcinoma(234;0.029) CTAGTGTCTTCCTGGGGACTC 0.393000 25 46 0 0 1 0 0 AGT 183 broad.mit.edu 37 1 230838923 230838923 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:230838923G>A ENST00000366667.4 - 5 1636 c.1422C>T c.(1420-1422)ttC>ttT p.F474F NM_000029.3 NP_000020.1 P01019 ANGT_HUMAN angiotensinogen (serpin peptidase inhibitor, clade A, member 8) 474 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation extracellular space|soluble fraction acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5) 25 Breast(184;0.0735)|Ovarian(103;0.183) all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167) GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641) CGCGGCCCAGGAAGTGCAGGG 0.607000 31 30 0 0 1 0 0 POTEE 445582 broad.mit.edu 37 2 132021425 132021425 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:132021425G>A ENST00000356920.5 + 15 2491 c.2397G>A c.(2395-2397)gaG>gaA p.E799E PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_3'UTR NM_001083538.1 NP_001077007.1 Q6S8J3 POTEE_HUMAN POTE ankyrin domain family, member E 799 Actin-like. ATP binding TGGCTCCCGAGGAGCACCCCA 0.582000 61 109 0 0 1 0 0 ADCK1 57143 broad.mit.edu 37 14 78390908 78390908 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr14:78390908G>A ENST00000238561.5 + 8 1066 c.967G>A c.(967-969)Gga>Aga p.G323R ADCK1_ENST00000556560.1_3'UTR|ADCK1_ENST00000341211.5_Missense_Mutation_p.G255R NM_020421.3 NP_065154.2 Q86TW2 ADCK1_HUMAN aarF domain containing kinase 1 330 Protein kinase. extracellular region ATP binding|protein serine/threonine kinase activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2) 25 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0376) CCCCGGCACGGGAAAGGCGGA 0.582000 33 47 0 0 1 0 0 SRPX 8406 broad.mit.edu 37 X 38033500 38033500 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:38033500G>A ENST00000378533.3 - 3 368 c.262C>T c.(262-264)Cgc>Tgc p.R88C SRPX_ENST00000432886.2_Missense_Mutation_p.R88C|TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000343800.6_Missense_Mutation_p.R75C|SRPX_ENST00000544439.1_Missense_Mutation_p.R68C|SRPX_ENST00000538295.1_Missense_Mutation_p.R88C NM_006307.4 NP_006298.1 P78539 SRPX_HUMAN sushi-repeat containing protein, X-linked 88 Sushi 1. cell adhesion cell surface|membrane autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2) 25 TTCTGGCAGCGAATGTCGCAC 0.557000 21 42 0 0 1 0 0 COL4A5 1287 broad.mit.edu 37 X 107834372 107834372 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:107834372C>T ENST00000328300.6 + 20 1494 c.1250C>T c.(1249-1251)tCc>tTc p.S417F COL4A5_ENST00000361603.2_Missense_Mutation_p.S417F NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 417 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 CCTGGAATTTCCATTCCTGGA 0.557000 Alport syndrome with Diffuse Leiomyomatosis 66 61 0 0 1 0 0 IGHV3-53 28420 broad.mit.edu 37 14 107048711 107048711 + RNA SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr14:107048711G>A ENST00000390627.2 - 0 529 CGGCTCTCAGGCTGTTCATTT 0.537000 74 86 0 0 1 0 0 BRINP3 339479 broad.mit.edu 37 1 190067661 190067661 + Nonsense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:190067661C>T ENST00000367462.3 - 8 2019 c.1788G>A c.(1786-1788)tgG>tgA p.W596* FAM5C_ENST00000534846.1_Nonsense_Mutation_p.W494*|FAM5C_ENST00000484105.1_5'UTR NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN 596 extracellular region NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) TAGTCCGCTCCCAGTCTGGAA 0.478000 79 69 0 0 1 0 0 HSD3B1 3283 broad.mit.edu 37 1 120056552 120056552 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:120056552G>A ENST00000235547.6 + 4 551 c.412G>A c.(412-414)Gaa>Aaa p.E138K HSD3B1_ENST00000369413.3_Missense_Mutation_p.E136K|HSD3B1_ENST00000528909.1_Missense_Mutation_p.E136K NM_000862.2 NP_000853.1 P14060 3BHS1_HUMAN hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 136 androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1) 32 all_neural(166;0.219) all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624) Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554) NADH(DB00157)|Trilostane(DB01108) CTCCTACAAGGAAATCATCCA 0.537000 40 133 0 0 1 0 0 C12orf29 91298 broad.mit.edu 37 12 88440660 88440660 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:88440660G>A ENST00000356891.3 + 6 899 c.696G>A c.(694-696)ttG>ttA p.L232L C12orf29_ENST00000548757.2_3'UTR NM_001009894.2 NP_001009894.2 Q8N999 CL029_HUMAN chromosome 12 open reading frame 29 232 large_intestine(3)|lung(1)|ovary(1) 5 TACCTTCATTGAAGCACAATG 0.383000 139 34 0 0 1 0 0 CFHR4 10877 broad.mit.edu 37 1 196876487 196876487 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:196876487G>A ENST00000367416.2 + 5 792 c.655G>A c.(655-657)Gga>Aga p.G219R CFHR4_ENST00000367418.1_Intron|CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000251424.4_Intron NM_001201550.2|NM_001201551.1 NP_001188479.1|NP_001188480.1 complement factor H-related 4 NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1) 36 TATTAGCAATGGAGATACCAC 0.403000 8 46 0 0 1 0 0 IDH3G 3421 broad.mit.edu 37 X 153051682 153051682 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:153051682G>A ENST00000370092.3 - 12 1250 c.1065C>T c.(1063-1065)tcC>tcT p.S355S IDH3G_ENST00000370093.1_3'UTR|IDH3G_ENST00000217901.5_Silent_p.S355S|IDH3G_ENST00000427365.2_Silent_p.S297S NM_174869.2 NP_777358.1 P51553 IDH3G_HUMAN isocitrate dehydrogenase 3 (NAD+) gamma 355 carbohydrate metabolic process|isocitrate metabolic process|tricarboxylic acid cycle mitochondrial matrix|nucleolus ATP binding|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1) 17 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) NADH(DB00157) CATTGTCCATGGATGCCAGGA 0.647000 27 47 0 0 1 0 0 DNAAF3 352909 broad.mit.edu 37 19 55672075 55672075 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:55672075C>T ENST00000527223.2 - 9 1186 c.1185G>A c.(1183-1185)gcG>gcA p.A395A DNAAF3_ENST00000524407.2_Silent_p.A327A|DNAAF3_ENST00000391720.4_Silent_p.A374A|DNAAF3_ENST00000455045.1_Silent_p.A273A|CTD-2587H24.5_ENST00000591665.1_RNA NM_001256714.1 NP_001243643.1 Q8N9W5 CS051_HUMAN dynein, axonemal, assembly factor 3 327 CGGTGGCTCTCGCGCGCCCCC 0.682000 OREG0025678 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 44 70 0 0 1 0 0 ST7L 54879 broad.mit.edu 37 1 113143419 113143419 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:113143419C>T ENST00000358039.4 - 4 807 c.503G>A c.(502-504)aGg>aAg p.R168K ST7L_ENST00000544629.1_Missense_Mutation_p.R168K|ST7L_ENST00000369669.1_Intron|ST7L_ENST00000369668.2_Missense_Mutation_p.R168K|ST7L_ENST00000369666.1_Missense_Mutation_p.R151K|ST7L_ENST00000343210.7_Missense_Mutation_p.R168K|ST7L_ENST00000360743.4_Missense_Mutation_p.R168K|ST7L_ENST00000538187.1_Missense_Mutation_p.R112K|ST7L_ENST00000463235.1_5'UTR|ST7L_ENST00000543570.1_Missense_Mutation_p.R151K|ST7L_ENST00000490067.1_Missense_Mutation_p.R151K NM_017744.4|NM_138727.3 NP_060214.2|NP_620055.1 Q8TDW4 ST7L_HUMAN suppression of tumorigenicity 7 like 168 negative regulation of cell growth integral to membrane binding endometrium(1)|kidney(4)|large_intestine(3)|lung(1)|prostate(2)|stomach(1)|urinary_tract(3) 15 Lung SC(450;0.246) all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GTAATACCTCCTATATTCTGC 0.328000 5 11 0 0 1 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33561153 33561153 + Missense_Mutation SNP C C G TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:33561153C>G ENST00000504830.1 - 20 4439 c.4104G>C c.(4102-4104)tgG>tgC p.W1368C ADAMTS12_ENST00000352040.3_Missense_Mutation_p.W1283C NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 1368 TSP type-1 6. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 TTCCCACTTTCCAGCCAGCAC 0.527000 HNSCC(64;0.19) 44 92 0 0 1 0 0 PIGA 5277 broad.mit.edu 37 X 15342946 15342946 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:15342946G>A ENST00000333590.4 - 5 1113 c.1029C>T c.(1027-1029)aaC>aaT p.N343N PIGA_ENST00000428964.1_Silent_p.N28N|PIGA_ENST00000482148.1_5'UTR|PIGA_ENST00000542278.1_Silent_p.N109N NM_002641.3 NP_002632.1 P37287 PIGA_HUMAN phosphatidylinositol glycan anchor biosynthesis, class A 343 C-terminal protein lipidation|positive regulation of metabolic process|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane phosphatidylinositol N-acetylglucosaminyltransferase activity|protein binding endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1) 10 Hepatocellular(33;0.183) AAATAATAAGGTTTTCTGGAA 0.388000 42 56 0 0 1 0 0 UNC80 285175 broad.mit.edu 37 2 210650808 210650808 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:210650808C>T ENST00000439458.1 + 5 699 c.619C>T c.(619-621)Cgt>Tgt p.R207C UNC80_ENST00000478701.1_3'UTR|UNC80_ENST00000272845.5_Missense_Mutation_p.R207C NM_032504.1 NP_115893.1 Q8N2C7 UNC80_HUMAN unc-80 homolog (C. elegans) 207 integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1) 20 CCTCACCTTCCGTCTGGCCAG 0.498000 37 22 0 0 1 0 0 VAX1 11023 broad.mit.edu 37 10 118897432 118897432 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:118897432C>T ENST00000277905.2 - 1 380 c.136G>A c.(136-138)Gag>Aag p.E46K VAX1_ENST00000369206.5_Missense_Mutation_p.E46K NM_199131.2 NP_954582.1 Q5SQQ9 VAX1_HUMAN ventral anterior homeobox 1 46 nucleus sequence-specific DNA binding p.E46K(1) endometrium(1)|large_intestine(1)|lung(8)|ovary(2) 12 all cancers(201;0.0108) CCCTGCGGCTCCTTGAGGAAG 0.647000 30 56 0 0 1 0 0 CARD14 79092 broad.mit.edu 37 17 78165220 78165220 + Silent SNP C C T rs147432650 TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:78165220C>T ENST00000573882.1 + 10 1724 c.1188C>T c.(1186-1188)gtC>gtT p.V396V CARD14_ENST00000392434.2_Silent_p.V159V|CARD14_ENST00000573754.1_3'UTR|CARD14_ENST00000344227.2_Silent_p.V396V|CARD14_ENST00000570421.1_Silent_p.V396V Q9BXL6 CAR14_HUMAN caspase recruitment domain family, member 14 396 activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis aggresome|cytoplasm|plasma membrane CARD domain binding NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1) 23 all_neural(118;0.0952) OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908) CGGACCAGGTCTGCGAGCTGC 0.667000 33 54 0 0 1 0 0 SLC43A2 124935 broad.mit.edu 37 17 1519991 1519991 + Nonsense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:1519991C>T ENST00000571650.1 - 3 539 c.233G>A c.(232-234)tGg>tAg p.W78* SLC43A2_ENST00000301335.4_Nonsense_Mutation_p.W78*|SLC43A2_ENST00000382147.4_Nonsense_Mutation_p.W78* Q8N370 LAT4_HUMAN solute carrier family 43 (amino acid system L transporter), member 2 78 cellular nitrogen compound metabolic process|ion transport integral to membrane|plasma membrane endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1) 12 UCEC - Uterine corpus endometrioid carcinoma (25;0.0883) GCAGCTGAGCCAGCCGTTCAT 0.597000 24 38 0 0 1 0 0 RNF145 153830 broad.mit.edu 37 5 158630511 158630511 + Nonsense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:158630511G>A ENST00000424310.2 - 2 474 c.115C>T c.(115-117)Caa>Taa p.Q39* RNF145_ENST00000274542.2_Nonsense_Mutation_p.Q67*|RNF145_ENST00000521606.2_Nonsense_Mutation_p.Q56*|RNF145_ENST00000518802.1_Nonsense_Mutation_p.Q69*|RNF145_ENST00000519865.1_Nonsense_Mutation_p.Q39*|RNF145_ENST00000520638.1_Nonsense_Mutation_p.Q53* NM_001199383.1 NP_001186312.1 Q96MT1 RN145_HUMAN ring finger protein 145 39 integral to membrane zinc ion binding endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 30 Renal(175;0.00196) Medulloblastoma(196;0.0523) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CTACTTCTTTGGATCTGCTGG 0.423000 43 71 0 0 1 0 0 OR4K1 79544 broad.mit.edu 37 14 20404104 20404104 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr14:20404104C>T ENST00000285600.4 + 1 338 c.279C>T c.(277-279)tcC>tcT p.S93S NM_001004063.2 NP_001004063.2 Q8NGD4 OR4K1_HUMAN olfactory receptor, family 4, subfamily K, member 1 93 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00124) AGACTATCTCCTTTGAGGGTT 0.403000 36 75 0 0 1 0 0 PRR12 57479 broad.mit.edu 37 19 50099897 50099897 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:50099897C>T ENST00000418929.2 + 4 2317 c.2305C>T c.(2305-2307)Ccc>Tcc p.P769S NM_020719.1 NP_065770.1 Q9ULL5 PRR12_HUMAN proline rich 12 476 DNA binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2) 11 all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132) GCCCCCACCTCCCACGGCCCA 0.711000 15 15 0 0 1 0 0 GCKR 2646 broad.mit.edu 37 2 27730568 27730568 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:27730568C>T ENST00000264717.2 + 14 1227 c.1164C>T c.(1162-1164)tcC>tcT p.S388S GCKR_ENST00000424318.2_Silent_p.S198S NM_001486.3 NP_001477.2 Q14397 GCKR_HUMAN glucokinase (hexokinase 4) regulator 388 SIS 2. carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process cytosol|nucleoplasm fructose-6-phosphate binding|protein binding breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2) 29 Acute lymphoblastic leukemia(172;0.155) TCACCTTCTCCCAGGAGGACT 0.542000 20 42 0 0 1 0 0 NLRP6 171389 broad.mit.edu 37 11 280494 280494 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:280494C>T ENST00000534750.1 + 4 965 c.760C>T c.(760-762)Ctg>Ttg p.L254L NLRP6_ENST00000312165.5_Silent_p.L254L NM_001276700.1 NP_001263629.1 P59044 NALP6_HUMAN NLR family, pyrin domain containing 6 254 NACHT. cytoplasm ATP binding breast(1)|skin(1)|upper_aerodigestive_tract(2) 4 all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122) TGACCTGATCCTGGACCAGTG 0.726000 8 10 0 0 1 0 0 RFPL1 5988 broad.mit.edu 37 22 29837928 29837928 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr22:29837928C>T ENST00000354373.2 + 2 980 c.771C>T c.(769-771)tcC>tcT p.S257S RFPL1S_ENST00000461286.2_RNA NM_021026.2 NP_066306.2 O75677 RFPL1_HUMAN ret finger protein-like 1 257 B30.2/SPRY. zinc ion binding endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 16 AGAACGTTTCCTTTTTTGATG 0.512000 5 74 0 0 1 0 0 TMED8 283578 broad.mit.edu 37 14 77812778 77812778 + Missense_Mutation SNP G G T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr14:77812778G>T ENST00000216468.7 - 3 296 c.241C>A c.(241-243)Ctg>Atg p.L81M NM_213601.1 NP_998766.1 Q6PL24 TMED8_HUMAN transmembrane emp24 protein transport domain containing 8 81 transport integral to membrane breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4) 15 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0281) GCTTTCCGCAGATCTTCCGTG 0.512000 30 55 2.08457e-15 2.11946e-15 1 1 0 VPS13D 55187 broad.mit.edu 37 1 12337250 12337250 + Missense_Mutation SNP A A G TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:12337250A>G ENST00000358136.3 + 19 3735 c.3605A>G c.(3604-3606)aAa>aGa p.K1202R VPS13D_ENST00000356315.4_Missense_Mutation_p.K1202R NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 1202 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) GGTGGCACCAAAGTTAATGTC 0.403000 58 78 0 0 1 0 0 PRSS45 377047 broad.mit.edu 37 3 46784468 46784468 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:46784468G>A ENST00000442359.2 - 3 387 c.388C>T c.(388-390)Cca>Tca p.P130S PRSS50_ENST00000460241.1_Intron NM_199183.2 NP_954652.2 Q7RTY3 PRS45_HUMAN protease, serine, 45 162 Peptidase S1. proteolysis serine-type endopeptidase activity kidney(1)|large_intestine(1)|lung(2)|prostate(1) 5 GGGACAACTGGGGGGAAGAAG 0.527000 16 31 0 0 1 0 0 FOXN1 8456 broad.mit.edu 37 17 26861462 26861462 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:26861462C>T ENST00000226247.2 + 6 1070 c.1041C>T c.(1039-1041)gcC>gcT p.A347A FOXN1_ENST00000579795.1_Silent_p.A347A NM_003593.2 NP_003584.2 O15353 FOXN1_HUMAN forkhead box N1 347 defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Lung NSC(42;0.00431) GCCTGTGGGCCCTCAATCCGG 0.537000 22 39 0 0 1 0 0 CR1 1378 broad.mit.edu 37 1 207753920 207753920 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:207753920C>T ENST00000367049.4 + 31 5178 c.5178C>T c.(5176-5178)ctC>ctT p.L1726L CR1_ENST00000400960.2_Silent_p.L1276L|CR1_ENST00000367052.1_Silent_p.L1276L|RP11-78B10.2_ENST00000597497.1_RNA|RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000367051.1_Silent_p.L1276L|CR1_ENST00000367053.1_Silent_p.L1276L NM_000651.4 NP_000642.3 P17927 CR1_HUMAN complement component (3b/4b) receptor 1 (Knops blood group) 1276 Sushi 27. complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 CACTTAATCTCCAGCTTGGGG 0.433000 127 47 0 0 1 0 0 CASP14 23581 broad.mit.edu 37 19 15164409 15164409 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:15164409C>T ENST00000427043.3 + 3 452 c.144C>T c.(142-144)ttC>ttT p.F48F CASP14_ENST00000221740.1_Silent_p.F48F NM_012114.2 NP_036246.1 P31944 CASPE_HUMAN caspase 14, apoptosis-related cysteine peptidase 48 apoptosis|cell differentiation|epidermis development|proteolysis cytoplasm|nucleus cysteine-type endopeptidase activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3) 26 AGCTGAGATTCGAAAGCACCA 0.557000 50 54 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 90106722 90106722 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:90106722C>T ENST00000405460.2 + 74 15741 c.15645C>T c.(15643-15645)tcC>tcT p.S5215S GPR98_ENST00000425867.2_Silent_p.S876S NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 5215 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) CCAATGTTTCCATTCATGGAA 0.458000 27 39 0 0 1 0 0 ALDH3B2 222 broad.mit.edu 37 11 67433603 67433603 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:67433603G>A ENST00000349015.3 - 6 747 c.309C>T c.(307-309)atC>atT p.I103I ALDH3B2_ENST00000530069.1_Silent_p.I103I NM_000695.3 NP_000686.2 P48448 AL3B2_HUMAN aldehyde dehydrogenase 3 family, member B2 103 alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process 3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1) 18 NADH(DB00157) CTGTGAAGAAGATGTAGTCCA 0.637000 37 62 0 0 1 0 0 PIPSL 266971 broad.mit.edu 37 10 95720207 95720207 + RNA SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:95720207C>T ENST00000480546.1 - 0 1090 NR_002319.2 TCGAGCCTCTCCCTGGATGGA 0.532000 22 20 0 0 1 0 0 INSL6 11172 broad.mit.edu 37 9 5164203 5164203 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr9:5164203C>T ENST00000381641.3 - 2 417 c.352G>A c.(352-354)Gat>Aat p.D118N INSL6_ENST00000510407.1_5'UTR NM_007179.2 NP_009110.2 Q9Y581 INSL6_HUMAN insulin-like 6 118 extracellular region hormone activity breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(2) 15 all_hematologic(13;0.137) Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145) CCCTTTTTATCCTTATACTCA 0.338000 81 18 0 0 1 0 0 PKD1L1 168507 broad.mit.edu 37 7 47913532 47913532 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:47913532G>A ENST00000289672.2 - 24 3911 c.3861C>T c.(3859-3861)ccC>ccT p.P1287P NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 1287 REJ. cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 CATGGTAGCGGGGCAGCACAG 0.512000 21 24 0 0 1 0 0 AACS 65985 broad.mit.edu 37 12 125587579 125587579 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:125587579C>T ENST00000316519.6 + 7 925 c.719C>T c.(718-720)cCt>cTt p.P240L AACS_ENST00000261686.6_Missense_Mutation_p.P240L NM_023928.3 NP_076417.2 Q86V21 AACS_HUMAN acetoacetyl-CoA synthetase 240 fatty acid metabolic process cytosol acetoacetate-CoA ligase activity|ATP binding breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1) 26 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843) GTGGTGATTCCTTATGTGTCC 0.468000 47 200 0 0 1 0 0 ZNF804B 219578 broad.mit.edu 37 7 88963595 88963595 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:88963595C>T ENST00000333190.4 + 4 1908 c.1299C>T c.(1297-1299)acC>acT p.T433T NM_181646.2 NP_857597.1 A4D1E1 Z804B_HUMAN zinc finger protein 804B 433 intracellular zinc ion binding NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9) 144 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) AAGCATGTACCCATAATGTGG 0.373000 HNSCC(36;0.09) 35 35 0 0 1 0 0 HNRNPH2 3188 broad.mit.edu 37 X 100667349 100667349 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:100667349G>A ENST00000316594.5 + 2 451 c.373G>A c.(373-375)Gaa>Aaa p.E125K NM_001032393.2|NM_001199973.1|NM_001199974.1|NM_019597.4 NP_001027565.1|NP_001186902.1|NP_001186903.1|NP_062543.1 P55795 HNRH2_HUMAN heterogeneous nuclear ribonucleoprotein H2 (H') 125 RRM 2. nuclear mRNA splicing, via spliceosome actin cytoskeleton|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|protein binding|RNA binding breast(3)|large_intestine(2)|lung(6)|skin(1) 12 CTGTAGCAAGGAAGAGATTGT 0.502000 71 84 0 0 1 0 0 ANKAR 150709 broad.mit.edu 37 2 190611141 190611141 + Nonsense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:190611141C>T ENST00000520309.1 + 23 4181 c.4093C>T c.(4093-4095)Caa>Taa p.Q1365* ANKAR_ENST00000313581.4_Nonsense_Mutation_p.Q1365*|ANKAR_ENST00000281412.6_3'UTR|ANKAR_ENST00000438402.2_3'UTR|ANKAR_ENST00000431575.2_Nonsense_Mutation_p.Q1294* NM_144708.3 NP_653309.3 Q7Z5J8 ANKAR_HUMAN ankyrin and armadillo repeat containing 1365 integral to membrane binding breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2) 46 OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744) ACCTAAAATTCAACCAAAAGA 0.343000 46 100 0 0 1 0 0 TEX2 55852 broad.mit.edu 37 17 62248493 62248493 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:62248493G>A ENST00000258991.3 - 7 2743 c.2659C>T c.(2659-2661)Ctc>Ttc p.L887F TEX2_ENST00000584379.1_Missense_Mutation_p.L880F|TEX2_ENST00000583097.1_Missense_Mutation_p.L880F Q8IWB9 TEX2_HUMAN testis expressed 2 880 signal transduction|sphingolipid metabolic process integral to membrane breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(8;1.33e-10) READ - Rectum adenocarcinoma(1115;0.0689) AAGGCCTGGAGGATTTTTGGC 0.448000 17 17 0 0 1 0 0 COL11A1 1301 broad.mit.edu 37 1 103540328 103540328 + Missense_Mutation SNP C C T rs142753283 TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:103540328C>T ENST00000358392.2 - 4 814 c.497G>A c.(496-498)cGg>cAg p.R166Q COL11A1_ENST00000512756.1_Missense_Mutation_p.R166Q|COL11A1_ENST00000370096.3_Missense_Mutation_p.R166Q|COL11A1_ENST00000353414.4_Missense_Mutation_p.R166Q NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 166 TSP N-terminal. 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) GATTGCTACCCGATGCCACCT 0.353000 23 25 0 0 1 0 0 KCNMA1 3778 broad.mit.edu 37 10 78778840 78778840 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:78778840C>T ENST00000286627.5 - 17 2898 c.1946G>A c.(1945-1947)gGa>gAa p.G649E KCNMA1_ENST00000404857.1_Missense_Mutation_p.G649E|KCNMA1_ENST00000286628.8_Missense_Mutation_p.G649E|KCNMA1_ENST00000372440.1_Missense_Mutation_p.G649E|KCNMA1_ENST00000406533.3_Missense_Mutation_p.G653E|KCNMA1_ENST00000354353.5_Missense_Mutation_p.G649E|KCNMA1_ENST00000372443.1_Missense_Mutation_p.G649E|KCNMA1_ENST00000404771.3_Missense_Mutation_p.G649E NM_002247.3 NP_002238.2 Q12791 KCMA1_HUMAN potassium large conductance calcium-activated channel, subfamily M, alpha member 1 649 cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 68 all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198) OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183) Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021) AAGATGGTTTCCAGGATTAAT 0.348000 6 31 0 0 1 0 0 OR6K2 81448 broad.mit.edu 37 1 158670072 158670072 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:158670072G>A ENST00000359610.2 - 1 414 c.371C>T c.(370-372)gCc>gTc p.A124V NM_001005279.1 NP_001005279.1 Q8NGY2 OR6K2_HUMAN olfactory receptor, family 6, subfamily K, member 2 124 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 46 all_hematologic(112;0.0378) GCTGCATATGGCCAGGTAGTG 0.468000 15 54 0 0 1 0 0 FPR3 2359 broad.mit.edu 37 19 52327032 52327032 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:52327032G>A ENST00000339223.4 + 2 210 c.31G>A c.(31-33)Gaa>Aaa p.E11K FPR3_ENST00000595991.1_Missense_Mutation_p.E11K NM_002030.3 NP_002021.3 P25089 FPR3_HUMAN formyl peptide receptor 3 11 cellular component movement|chemotaxis integral to membrane|plasma membrane N-formyl peptide receptor activity NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3) 35 TCCTCTGAATGAAACTGAGGA 0.493000 17 33 0 0 1 0 0 EYA1 2138 broad.mit.edu 37 8 72111619 72111619 + Missense_Mutation SNP C C A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:72111619C>A ENST00000340726.3 - 18 2374 c.1735G>T c.(1735-1737)Gac>Tac p.D579Y EYA1_ENST00000388740.3_Missense_Mutation_p.D546Y|RP11-326E22.1_ENST00000521685.1_RNA|EYA1_ENST00000419131.1_Missense_Mutation_p.D544Y|EYA1_ENST00000388743.2_Missense_Mutation_p.D578Y|EYA1_ENST00000303824.7_Missense_Mutation_p.D573Y|EYA1_ENST00000388741.2_Missense_Mutation_p.D545Y|EYA1_ENST00000388742.4_Missense_Mutation_p.D579Y NM_000503.4 NP_000494.2 Q99502 EYA1_HUMAN eyes absent homolog 1 (Drosophila) 579 double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent cytoplasm|nucleus metal ion binding|protein tyrosine phosphatase activity NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 44 Breast(64;0.046) Epithelial(68;0.0837)|all cancers(69;0.247) GCCATGAGGTCCGAGTGGCTG 0.597000 6 18 2.0095e-06 2.02221e-06 1 1 0 TRIM51HP 440041 broad.mit.edu 37 11 55065335 55065335 + RNA SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:55065335C>T ENST00000526016.1 - 0 373 NR_038174.2 CATCACTTACCCGGCGTTCCT 0.478000 14 21 0 0 1 0 0 YPEL5 51646 broad.mit.edu 37 2 30381531 30381531 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:30381531C>T ENST00000379520.3 + 5 692 c.188C>T c.(187-189)aCt>aTt p.T63I YPEL5_ENST00000402708.1_Missense_Mutation_p.T63I|YPEL5_ENST00000402003.3_Missense_Mutation_p.T63I|YPEL5_ENST00000379519.3_Missense_Mutation_p.T63I|YPEL5_ENST00000261353.4_Missense_Mutation_p.T63I|YPEL5_ENST00000495673.1_3'UTR NM_001127401.1 NP_001120873.1 P62699 YPEL5_HUMAN yippee-like 5 (Drosophila) 63 peptide-methionine-(S)-S-oxide reductase activity NS(1)|endometrium(1)|kidney(1)|lung(3)|prostate(1) 7 Acute lymphoblastic leukemia(172;0.155) GTCATGCTCACTGGCCGCCAC 0.448000 40 42 0 0 1 0 0 SUGP2 10147 broad.mit.edu 37 19 19135589 19135589 + Missense_Mutation SNP A A T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:19135589A>T ENST00000601879.1 - 3 1865 c.1568T>A c.(1567-1569)tTt>tAt p.F523Y SUGP2_ENST00000337018.6_Missense_Mutation_p.F523Y|SUGP2_ENST00000600377.1_Missense_Mutation_p.F537Y|SUGP2_ENST00000456085.2_Missense_Mutation_p.F292Y|SUGP2_ENST00000452918.2_Missense_Mutation_p.F523Y Q8IX01 SUGP2_HUMAN SURP and G patch domain containing 2 523 mRNA processing|RNA splicing nucleus RNA binding NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 43 CTCTCGCCCAAACAAAGTGGA 0.542000 38 56 0 0 1 0 0 SF3B2 10992 broad.mit.edu 37 11 65826342 65826342 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:65826342C>T ENST00000528302.1 + 9 1011 c.957C>T c.(955-957)ccC>ccT p.P319P SF3B2_ENST00000322535.6_Silent_p.P336P Q13435 SF3B2_HUMAN splicing factor 3b, subunit 2, 145kDa 336 interspecies interaction between organisms catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex nucleic acid binding|protein binding breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 41 AGAAAAAGCCCCAGCGGGTGC 0.572000 20 50 0 0 1 0 0 DNAJC5B 85479 broad.mit.edu 37 8 66992705 66992705 + Missense_Mutation SNP G G A rs143168011 byFrequency TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:66992705G>A ENST00000276570.5 + 5 714 c.427G>A c.(427-429)Gag>Aag p.E143K DNAJC5B_ENST00000519330.1_3'UTR NM_033105.4 NP_149096.2 Q9UF47 DNJ5B_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 5 beta 143 protein folding membrane heat shock protein binding|unfolded protein binding endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3) 20 Lung NSC(129;0.114)|all_lung(136;0.188) Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112) CTGCCGGCCCGAGTCATCAGT 0.562000 23 18 0 0 1 0 0 OR5T2 219464 broad.mit.edu 37 11 56000423 56000423 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:56000423C>T ENST00000313264.4 - 1 314 c.239G>A c.(238-240)gGa>gAa p.G80E NM_001004746.1 NP_001004746.1 Q8NGG2 OR5T2_HUMAN olfactory receptor, family 5, subfamily T, member 2 80 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G80E(1) endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3) 41 Esophageal squamous(21;0.00448) TCCTAAATTTCCCATGAGAGT 0.413000 20 29 0 0 1 0 0 ANXA11 311 broad.mit.edu 37 10 81930561 81930561 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:81930561C>T ENST00000438331.1 - 5 648 c.166G>A c.(166-168)Gga>Aga p.G56R ANXA11_ENST00000537102.1_Missense_Mutation_p.G23R|ANXA11_ENST00000360615.4_Missense_Mutation_p.G56R|ANXA11_ENST00000372231.3_Missense_Mutation_p.G56R|ANXA11_ENST00000265447.4_Missense_Mutation_p.G56R|ANXA11_ENST00000535999.1_Missense_Mutation_p.G56R|ANXA11_ENST00000422982.3_Missense_Mutation_p.G56R NM_145869.1 NP_665876.1 P50995 ANX11_HUMAN annexin A11 56 cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1) 17 Prostate(51;0.00985)|all_epithelial(25;0.0951) Colorectal(32;0.109) CTCACCATTCCCGAGAGATAG 0.637000 24 51 0 0 1 0 0 SLITRK4 139065 broad.mit.edu 37 X 142716803 142716803 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:142716803C>T ENST00000381779.4 - 2 2347 c.2122G>A c.(2122-2124)Ggg>Agg p.G708R SLITRK4_ENST00000338017.4_Missense_Mutation_p.G708R|SLITRK4_ENST00000356928.1_Missense_Mutation_p.G708R NM_001184749.1|NM_001184750.1|NM_173078.3 NP_001171678.1|NP_001171679.1|NP_775101.1 Q8IW52 SLIK4_HUMAN SLIT and NTRK-like family, member 4 708 integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 60 Acute lymphoblastic leukemia(192;6.56e-05) AACATGAACCCAGTTTCTGAC 0.408000 48 124 0 0 1 0 0 FARP1 10160 broad.mit.edu 37 13 99064192 99064192 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr13:99064192C>T ENST00000376586.2 + 16 2066 c.1730C>T c.(1729-1731)cCg>cTg p.P577L FARP1_ENST00000319562.6_Missense_Mutation_p.P577L|FARP1_ENST00000595437.1_Missense_Mutation_p.P577L Q9Y4F1 FARP1_HUMAN FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) 577 DH. regulation of Rho protein signal transduction cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1) 49 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.233) GACGCCATGCCGGAAGCACTG 0.443000 48 119 0 0 1 0 0 SEC22B 9554 broad.mit.edu 37 1 145103915 145103915 + RNA SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:145103915G>A ENST00000453618.1 + 0 410 O75396 SC22B_HUMAN SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene) ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome protein binding CAGTCTGGCCGGGACCTTCAA 0.418000 5 7 0 0 1 0 0 TRIML1 339976 broad.mit.edu 37 4 189060943 189060943 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr4:189060943C>T ENST00000332517.3 + 1 371 c.231C>T c.(229-231)atC>atT p.I77I NM_178556.3 NP_848651.2 Q8N9V2 TRIML_HUMAN tripartite motif family-like 1 77 multicellular organismal development ligase activity|zinc ion binding NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 60 all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062) OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156) TGGCCAGCATCGCCAGGCAGC 0.627000 15 50 0 0 1 0 0 MYH13 8735 broad.mit.edu 37 17 10248557 10248557 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:10248557C>T ENST00000418404.3 - 14 1709 c.1546G>A c.(1546-1548)Gga>Aga p.G516R MYH13_ENST00000252172.4_Missense_Mutation_p.G516R|MYH13_ENST00000570743.1_Missense_Mutation_p.G516R Q9UKX3 MYH13_HUMAN myosin, heavy chain 13, skeletal muscle 516 Myosin head-like. muscle contraction muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 AGGTCCATTCCGAAGTCAATG 0.527000 40 84 0 0 1 0 0 RTP1 132112 broad.mit.edu 37 3 186917660 186917660 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:186917660C>T ENST00000312295.4 + 2 624 c.594C>T c.(592-594)atC>atT p.I198I RP11-208N14.4_ENST00000356133.3_RNA NM_153708.2 NP_714919.2 P59025 RTP1_HUMAN receptor (chemosensory) transporter protein 1 198 protein insertion into membrane cell surface|integral to membrane|plasma membrane olfactory receptor binding breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2) 22 all_cancers(143;5.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;5.56e-18) GBM - Glioblastoma multiforme(93;0.0269) AGGAGGGCATCGTGCACTGGA 0.701000 18 19 0 0 1 0 0 OR4X1 390113 broad.mit.edu 37 11 48285517 48285517 + Silent SNP T T G TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:48285517T>G ENST00000320048.1 + 1 105 c.105T>G c.(103-105)gcT>gcG p.A35A NM_001004726.1 NP_001004726.1 Q8NH49 OR4X1_HUMAN olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene) 35 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 TGTACACAGCTGTTGTGCTGG 0.458000 25 36 0 0 1 0 0 FAM150A 389658 broad.mit.edu 37 8 53452429 53452429 + Missense_Mutation SNP C C T rs145116532 TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:53452429C>T ENST00000358543.4 - 3 537 c.287G>A c.(286-288)cGa>cAa p.R96Q FAM150A_ENST00000523939.1_Missense_Mutation_p.R96Q NM_207413.3 NP_997296.1 Q6UXT8 F150A_HUMAN family with sequence similarity 150, member A 96 extracellular region lung(1) 1 Lung NSC(129;0.0919)|all_epithelial(80;0.125)|all_lung(136;0.17) GTAATAGAGTCGGTGGAAATG 0.363000 19 32 0 0 1 0 0 SMR3A 26952 broad.mit.edu 37 4 71232381 71232381 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr4:71232381C>T ENST00000226460.4 + 3 171 c.75C>T c.(73-75)ggC>ggT p.G25G NM_012390.3 NP_036522.3 Q99954 SMR3A_HUMAN submaxillary gland androgen regulated protein 3A 25 extracellular region endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4) 15 all_hematologic(202;0.196) GTCAAAGAGGCCCCAGGGGAC 0.453000 31 33 0 0 1 0 0 DNASE2 1777 broad.mit.edu 37 19 12989535 12989535 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:12989535C>T ENST00000222219.3 - 4 552 c.460G>A c.(460-462)Ggg>Agg p.G154R DNASE2_ENST00000538460.1_Intron NM_001375.2 NP_001366.1 O00115 DNS2A_HUMAN deoxyribonuclease II, lysosomal 154 apoptosis lysosome deoxyribonuclease II activity|DNA binding|protein binding breast(1)|large_intestine(1)|lung(4)|ovary(1) 7 AGGGTCTGCCCGTAGGTACAG 0.567000 7 11 0 0 1 0 0 NRXN2 9379 broad.mit.edu 37 11 64398031 64398031 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:64398031C>T ENST00000265459.6 - 19 4061 c.3600G>A c.(3598-3600)gtG>gtA p.V1200V NRXN2_ENST00000301894.2_Silent_p.V154V|NRXN2_ENST00000377551.1_Silent_p.V1200V|NRXN2_ENST00000409571.1_Silent_p.V1193V|NRXN2_ENST00000377559.3_Silent_p.V1160V NM_015080.3 NP_055895.1 Q9P2S2 NRX2A_HUMAN neurexin 2 1200 Laminin G-like 6. cell adhesion integral to membrane metal ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 71 AGATCACCCCCACGGTGCCCT 0.592000 11 30 0 0 1 0 0 TAF1L 138474 broad.mit.edu 37 9 32633160 32633160 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr9:32633160G>A ENST00000242310.4 - 1 2507 c.2418C>T c.(2416-2418)ccC>ccT p.P806P NM_153809.2 NP_722516.1 Q8IZX4 TAF1L_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like 806 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 159 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) CTTCAAACAAGGGACACTGCT 0.413000 58 25 0 0 1 0 0 BUB1B 701 broad.mit.edu 37 15 40488920 40488920 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr15:40488920C>T ENST00000287598.6 + 9 1428 c.1233C>T c.(1231-1233)tcC>tcT p.S411S BUB1B_ENST00000412359.3_Silent_p.S425S NM_001211.5 NP_001202.4 O60566 BUB1B_HUMAN BUB1 mitotic checkpoint serine/threonine kinase B 411 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2) 36 all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556) GGGAATTCTCCTTTGAAGAAA 0.408000 """Mis, N, F, S""" rhabdomyosarcoma Mosaic Variegated Aneuploidy Syndrome 40 47 0 0 1 0 0 C16orf11 146325 broad.mit.edu 37 16 613869 613869 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr16:613869C>T ENST00000409413.3 + 2 854 c.575C>T c.(574-576)cCg>cTg p.P192L NM_145270.2 NP_660313.1 P0CG20 CP011_HUMAN chromosome 16 open reading frame 11 192 Pro-rich. central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1) 10 TGCTATCCCCCGCCTGCCCCA 0.706000 3 4 0 0 1 0 0 TRO 7216 broad.mit.edu 37 X 54955273 54955273 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:54955273G>A ENST00000173898.7 + 12 2228 c.2116G>A c.(2116-2118)Gaa>Aaa p.E706K TRO_ENST00000375022.4_Intron|TRO_ENST00000319167.8_Intron|TRO_ENST00000375041.2_Missense_Mutation_p.E309K|TRO_ENST00000399736.1_Intron|TRO_ENST00000420798.2_Missense_Mutation_p.E237K NM_001039705.1 NP_001034794.1 Q12816 TROP_HUMAN trophinin 706 embryo implantation|homophilic cell adhesion integral to plasma membrane breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1) 37 ATTTTCATTTGAAATTGAGGC 0.517000 14 19 0 0 1 0 0 MAGEA4 4103 broad.mit.edu 37 X 151092751 151092751 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:151092751C>T ENST00000370340.3 + 3 882 c.615C>T c.(613-615)atC>atT p.I205I MAGEA4_ENST00000360243.2_Silent_p.I205I|MAGEA4_ENST00000276344.2_Silent_p.I205I|MAGEA4_ENST00000370335.1_Silent_p.I205I|MAGEA4_ENST00000393920.1_Silent_p.I205I|MAGEA4_ENST00000393921.1_Silent_p.I205I|MAGEA4_ENST00000370337.4_Silent_p.I205I P43358 MAGA4_HUMAN melanoma antigen family A, 4 205 MAGE. protein binding breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2) 27 Acute lymphoblastic leukemia(192;6.56e-05) TTCTGATAATCGTCCTGGGCA 0.562000 108 105 0 0 1 0 0 NICN1 84276 broad.mit.edu 37 3 49463814 49463814 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:49463814G>A ENST00000273598.3 - 2 266 c.180C>T c.(178-180)atC>atT p.I60I NICN1_ENST00000436744.2_Silent_p.I60I|NICN1_ENST00000422593.1_5'UTR NM_032316.3 NP_115692.1 Q9BSH3 NICN1_HUMAN nicolin 1 60 microtubule|nucleus kidney(1)|large_intestine(3)|lung(1) 5 BRCA - Breast invasive adenocarcinoma(193;4.52e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) GACGGACACGGATGCTCAAAA 0.532000 18 34 0 0 1 0 0 VCAN 1462 broad.mit.edu 37 5 82834652 82834652 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:82834652G>A ENST00000265077.3 + 8 6395 c.5830G>A c.(5830-5832)Gtg>Atg p.V1944M VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.V957M|VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000513016.1_3'UTR NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 1944 GAG-beta. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) ATACTCAACAGTGTCTCATCC 0.443000 41 57 0 0 1 0 0 TMEM127 55654 broad.mit.edu 37 2 96919664 96919664 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:96919664G>A ENST00000258439.2 - 4 855 c.599C>T c.(598-600)cCc>cTc p.P200L TMEM127_ENST00000432959.1_Missense_Mutation_p.P200L|TMEM127_ENST00000435268.1_Missense_Mutation_p.P116L NM_001193304.2|NM_017849.3 NP_001180233.1|NP_060319.1 O75204 TM127_HUMAN transmembrane protein 127 200 negative regulation of cell proliferation|negative regulation of TOR signaling cascade cytoplasm|integral to membrane|plasma membrane endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1) 5 TTCCTCTGTGGGGTAGTGGCG 0.607000 15 26 0 0 1 0 0 THSD7A 221981 broad.mit.edu 37 7 11633120 11633120 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:11633120C>T ENST00000423059.3 - 3 1283 c.1032G>A c.(1030-1032)caG>caA p.Q344Q NM_015204.2 NP_056019.1 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 344 integral to membrane NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11) 113 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) GCTTCTCTTGCTGGCAAAAGC 0.463000 HNSCC(18;0.044) 24 69 0 0 1 0 0 HAX1 10456 broad.mit.edu 37 1 154248134 154248134 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:154248134C>T ENST00000328703.7 + 7 1010 c.797C>T c.(796-798)tCc>tTc p.S266F HAX1_ENST00000532105.1_Missense_Mutation_p.S138F|HAX1_ENST00000457918.2_Missense_Mutation_p.S218F|HAX1_ENST00000483970.2_Missense_Mutation_p.S274F NM_006118.3 NP_006109.2 O00165 HAX1_HUMAN HCLS1 associated protein X-1 266 Involved in HCLS1 binding.|Involved in PKD2 binding.|Required for localization in sarcoplasmic reticulum (By similarity). actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction interleukin-1 binding|protein N-terminus binding cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 15 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) GATGCCTTTTCCATCCTGGAC 0.498000 Kostmann syndrome 11 28 0 0 1 0 0 ADAMTS4 9507 broad.mit.edu 37 1 161163958 161163958 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:161163958G>A ENST00000367996.4 - 5 1743 c.1315C>T c.(1315-1317)Cct>Tct p.P439S ADAMTS4_ENST00000478394.1_5'UTR NM_005099.4 NP_005090.3 O75173 ATS4_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 4 439 Disintegrin. proteolysis|skeletal system development extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|protease binding|zinc ion binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1) 43 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) TCCTTGCCAGGGAAAGTCACA 0.622000 34 45 0 0 1 0 0 ZIC5 85416 broad.mit.edu 37 13 100622742 100622742 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr13:100622742G>A ENST00000267294.4 - 1 1421 c.1188C>T c.(1186-1188)ctC>ctT p.L396L NM_033132.3 NP_149123.2 Q96T25 ZIC5_HUMAN Zic family member 5 396 Pro-rich. cell differentiation nucleus DNA binding|zinc ion binding endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2) 9 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) ACTTGCAGATGAGCTCCTGCT 0.791000 3 6 0 0 1 0 0 CSF2RB 1439 broad.mit.edu 37 22 37325496 37325496 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr22:37325496C>T ENST00000262825.5 + 5 661 c.444C>T c.(442-444)ttC>ttT p.F148F CSF2RB_ENST00000403662.3_Silent_p.F148F|CSF2RB_ENST00000406230.1_Silent_p.F148F|CSF2RB_ENST00000536485.1_Silent_p.F89F NM_000395.2 NP_000386.1 P32927 IL3RB_HUMAN colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) 148 Fibronectin type-III 1. respiratory gaseous exchange granulocyte macrophage colony-stimulating factor receptor complex cytokine receptor activity breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2) 42 Sargramostim(DB00020) AGGACCACTTCCTGCTGACCT 0.632000 47 104 0 0 1 0 0 DMXL1 1657 broad.mit.edu 37 5 118510990 118510990 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:118510990C>T ENST00000311085.8 + 26 6796 c.6716C>T c.(6715-6717)tCt>tTt p.S2239F DMXL1_ENST00000539542.1_Missense_Mutation_p.S2239F NM_005509.4 NP_005500.4 Q9Y485 DMXL1_HUMAN Dmx-like 1 2239 breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1) 86 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) GCTTCACTTTCTGCTTGTATT 0.303000 22 18 0 0 1 0 0 SLF2 55719 broad.mit.edu 37 10 102684486 102684486 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:102684486C>T ENST00000238961.3 + 5 1876 c.1728C>T c.(1726-1728)gcC>gcT p.A576A FAM178A_ENST00000370271.3_Silent_p.A576A|FAM178A_ENST00000370269.3_Silent_p.A576A NM_018121.3 NP_060591.3 Q8IX21 F178A_HUMAN family with sequence similarity 178, member A 576 CAGATAAAGCCCCTTCAGAAG 0.463000 19 45 0 0 1 0 0 ZSCAN1 284312 broad.mit.edu 37 19 58549384 58549384 + Nonsense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:58549384G>A ENST00000282326.1 + 3 427 c.180G>A c.(178-180)tgG>tgA p.W60* ZSCAN1_ENST00000601162.1_Nonsense_Mutation_p.W60*|ZSCAN1_ENST00000391700.1_Nonsense_Mutation_p.W60* NM_182572.3 NP_872378.3 Q8NBB4 ZSCA1_HUMAN zinc finger and SCAN domain containing 1 60 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) GCCAGCTCTGGACGCTGTGCC 0.706000 15 16 0 0 1 0 0 ATRX 546 broad.mit.edu 37 X 76920140 76920140 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:76920140C>T ENST00000373344.5 - 11 4151 c.3937G>A c.(3937-3939)Gat>Aat p.D1313N ATRX_ENST00000395603.3_Missense_Mutation_p.D1275N|ATRX_ENST00000480283.1_5'UTR NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 1313 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) TCACCCTCATCTCCTGGGTTT 0.358000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 62 89 0 0 1 0 0 GNAS 2778 broad.mit.edu 37 20 57429837 57429837 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr20:57429837G>A ENST00000371100.4 + 1 2069 c.1517G>A c.(1516-1518)cGg>cAg p.R506Q GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000603534.1_Intron|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000371099.2_Missense_Mutation_p.R506Q|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000306120.3_Missense_Mutation_p.G443R|GNAS_ENST00000371102.4_Missense_Mutation_p.R506Q NM_001077490.1|NM_080425.2 NP_001070958.1|NP_536350.2 P63092 GNAS2_HUMAN GNAS complex locus 0 activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1) 441 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) TCTGCCACCCGGGCAGCCCAA 0.746000 Mis pituitary adenoma """McCune-Albright syndrome; pseudohypoparathyroidism, type IA""" TSP Lung(22;0.16) 4 4 0 0 1 0 0 PATE1 160065 broad.mit.edu 37 11 125617640 125617640 + Missense_Mutation SNP G G C TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:125617640G>C ENST00000305738.5 + 4 182 c.170G>C c.(169-171)gGa>gCa p.G57A PATE1_ENST00000437148.2_Missense_Mutation_p.G45A NM_138294.2 NP_612151.1 Q8WXA2 PATE1_HUMAN prostate and testis expressed 1 57 extracellular region large_intestine(1)|lung(5) 6 CAGTTCCCAGGAGAAAAGTGC 0.473000 36 52 0 0 1 0 0 ZNF567 163081 broad.mit.edu 37 19 37211305 37211305 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:37211305C>T ENST00000585696.1 + 3 2816 c.1586C>T c.(1585-1587)tCc>tTc p.S529F ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000392163.2_Missense_Mutation_p.S529F|ZNF567_ENST00000360729.4_Missense_Mutation_p.S529F|ZNF567_ENST00000588311.1_Missense_Mutation_p.S529F|ZNF567_ENST00000536254.2_Missense_Mutation_p.S560F Q8N184 ZN567_HUMAN zinc finger protein 567 560 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) GGCCAGAAATCCTATGAATGT 0.418000 41 57 0 0 1 0 0 TMEM55A 55529 broad.mit.edu 37 8 92007924 92007924 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:92007924G>A ENST00000285419.3 - 7 1069 c.755C>T c.(754-756)cCa>cTa p.P252L NM_018710.2 NP_061180.1 Q8N4L2 TM55A_HUMAN transmembrane protein 55A 252 integral to membrane|late endosome membrane|lysosomal membrane hydrolase activity breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 13 BRCA - Breast invasive adenocarcinoma(11;0.033) ACTGTGTTCTGGATAACTGAC 0.398000 21 49 0 0 1 0 0 RBM42 79171 broad.mit.edu 37 19 36128163 36128163 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:36128163C>T ENST00000262633.4 + 9 1344 c.1239C>T c.(1237-1239)atC>atT p.I413I RBM42_ENST00000592202.1_Silent_p.I359I|RBM42_ENST00000588161.1_Silent_p.I383I|RBM42_ENST00000589871.1_Silent_p.I391I|RBM42_ENST00000360475.4_Silent_p.I384I|RBM42_ENST00000589559.1_Intron|RBM42_ENST00000586618.1_Silent_p.I117I NM_024321.3 NP_077297.2 Q9BTD8 RBM42_HUMAN RNA binding motif protein 42 413 Necessary for interaction with HNRNPK (By similarity).|RRM. cytoplasm|nucleus nucleotide binding|RNA binding breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1) 21 all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) CCAAGGTGATCCGTGACAAGC 0.587000 33 43 0 0 1 0 0 MAP1A 4130 broad.mit.edu 37 15 43820400 43820400 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr15:43820400C>T ENST00000382031.1 + 5 7474 c.7443C>T c.(7441-7443)ctC>ctT p.L2481L MAP1A_ENST00000300231.5_Silent_p.L2243L|MAP1A_ENST00000399453.1_Silent_p.L2243L P78559 MAP1A_HUMAN microtubule-associated protein 1A 2243 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) GGGCCCCTCTCCTCTCCAATC 0.617000 55 96 0 0 1 0 0 MROH5 389690 broad.mit.edu 37 8 142481271 142481271 + RNA SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:142481271C>T ENST00000430863.1 - 0 1970 NM_207414.2 NP_997297.2 maestro heat-like repeat family member 5 ATTGCCCAATCCTTTTGAAGT 0.577000 22 37 0 0 1 0 0 PRB2 653247 broad.mit.edu 37 12 11546120 11546120 + Nonsense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:11546120G>A ENST00000389362.4 - 3 927 c.892C>T c.(892-894)Cga>Tga p.R298* PRB1_ENST00000546254.1_Intron NM_006248.3 NP_006239.3 proline-rich protein BstNI subfamily 2 NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1) 37 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) GGAGGAGATCGAGAACTTCGG 0.612000 135 257 0 0 1 0 0 NES 10763 broad.mit.edu 37 1 156642835 156642835 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:156642835G>A ENST00000368223.3 - 4 1277 c.1145C>T c.(1144-1146)aCc>aTc p.T382I NM_006617.1 NP_006608.1 P48681 NEST_HUMAN nestin 382 Tail. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4) 64 all_hematologic(923;0.088)|Hepatocellular(266;0.158) CAAGGTAGGGGTACGGGCCTG 0.602000 56 45 0 0 1 0 0 SLC16A10 117247 broad.mit.edu 37 6 111543266 111543266 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr6:111543266C>T ENST00000368850.3 + 5 920 c.434C>T c.(433-435)cCc>cTc p.P145L SLC16A10_ENST00000368851.5_Missense_Mutation_p.P459L Q8TF71 MOT10_HUMAN solute carrier family 16 (aromatic amino acid transporter), member 10 459 aromatic amino acid transport|cellular nitrogen compound metabolic process|ion transport basolateral plasma membrane|integral to membrane amino acid transmembrane transporter activity endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2) 12 all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466) OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132) GGAGTCCCTCCCCTTATTGGA 0.458000 43 21 0 0 1 0 0 TMEM156 80008 broad.mit.edu 37 4 39000474 39000474 + Nonsense_Mutation SNP A A C TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr4:39000474A>C ENST00000381938.3 - 2 251 c.144T>G c.(142-144)taT>taG p.Y48* TMEM156_ENST00000372489.2_5'UTR NM_024943.1 NP_079219.1 Q8N614 TM156_HUMAN transmembrane protein 156 48 Y -> C (in dbSNP:rs35576563). integral to membrane endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|stomach(1) 10 AGGAGAGTGAATAGGTAAAAT 0.328000 16 25 0 0 1 0 0 RENBP 5973 broad.mit.edu 37 X 153205608 153205608 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:153205608C>T ENST00000393700.3 - 9 1104 c.1024G>A c.(1024-1026)Gac>Aac p.D342N RENBP_ENST00000369997.3_Missense_Mutation_p.D328N|RENBP_ENST00000412763.1_3'UTR NM_002910.5 NP_002901.2 P51606 RENBP_HUMAN renin binding protein 342 mannose metabolic process|regulation of blood pressure endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 20 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) N-Acetyl-D-glucosamine(DB00141) AGCACAGGGTCCCCACTGTCA 0.602000 48 46 0 0 1 0 0 OR10A4 283297 broad.mit.edu 37 11 6898760 6898760 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:6898760G>A ENST00000379829.2 + 1 905 c.882G>A c.(880-882)agG>agA p.R294R NM_207186.2 NP_997069.2 Q9H209 O10A4_HUMAN olfactory receptor, family 10, subfamily A, member 4 294 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 31 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) ACAGCTCAAGGAATAAAGAAG 0.493000 46 68 0 0 1 0 0 PNPLA1 285848 broad.mit.edu 37 6 36275465 36275465 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr6:36275465C>T ENST00000394571.2 + 8 1571 c.1571C>T c.(1570-1572)tCc>tTc p.S524F PNPLA1_ENST00000388715.3_Missense_Mutation_p.S429F|PNPLA1_ENST00000312917.5_Missense_Mutation_p.S438F NM_001145717.1 NP_001139189.2 Q8N8W4 PLPL1_HUMAN patatin-like phospholipase domain containing 1 524 lipid catabolic process hydrolase activity breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2) 22 CATTCGGGATCCAAAAAACCA 0.473000 4 18 0 0 1 0 0 ZNF28 7576 broad.mit.edu 37 19 53303906 53303906 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:53303906G>A ENST00000438150.2 - 2 1926 c.1033C>T c.(1033-1035)Ctt>Ttt p.L345F ZNF28_ENST00000360272.4_Missense_Mutation_p.L345F|ZNF28_ENST00000457749.2_Missense_Mutation_p.L398F|ZNF28_ENST00000414252.2_Missense_Mutation_p.L345F P17035 ZNF28_HUMAN zinc finger protein 28 398 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145) TGTCTTTCAAGATGTGATTTG 0.378000 43 81 0 0 1 0 0 PDSS1 23590 broad.mit.edu 37 10 26994289 26994289 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:26994289G>A ENST00000376215.5 + 4 355 c.302G>A c.(301-303)aGa>aAa p.R101K PDSS1_ENST00000376203.5_Missense_Mutation_p.R101K NM_014317.3 NP_055132.2 Q5T2R2 DPS1_HUMAN prenyl (decaprenyl) diphosphate synthase, subunit 1 101 isoprenoid biosynthetic process|ubiquinone biosynthetic process mitochondrion metal ion binding|protein heterodimerization activity autonomic_ganglia(1)|endometrium(1)|kidney(7)|large_intestine(6)|lung(5)|prostate(1) 21 CTCGGTTGGAGAGACTTGAAA 0.368000 13 21 0 0 1 0 0 C17orf77 146723 broad.mit.edu 37 17 72588512 72588512 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:72588512G>A ENST00000392620.1 + 3 689 c.327G>A c.(325-327)aaG>aaA p.K109K C17orf77_ENST00000328023.2_Silent_p.K109K NM_152460.2 NP_689673.2 Q96MU5 CQ077_HUMAN chromosome 17 open reading frame 77 109 extracellular region breast(2)|large_intestine(2)|lung(5)|prostate(1)|stomach(1) 11 TAGGAGAAAAGAGGTGTCATT 0.428000 46 57 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179467060 179467060 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:179467060C>T ENST00000589042.1 - 283 55293 c.55069G>A c.(55069-55071)Gaa>Aaa p.E18357K TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E15789K|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E16716K|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E9417K|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E9484K|TTN_ENST00000460472.2_Missense_Mutation_p.E9292K|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 16716 Fibronectin type-III 33. 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) GGTTCAGATTCACCAGCTTCA 0.398000 14 41 0 0 1 0 0 USP33 23032 broad.mit.edu 37 1 78191355 78191355 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:78191355G>A ENST00000370793.1 - 12 1667 c.1321C>T c.(1321-1323)Cct>Tct p.P441S USP33_ENST00000370792.3_Missense_Mutation_p.P441S|USP33_ENST00000370794.3_Missense_Mutation_p.P410S|USP33_ENST00000357428.1_Missense_Mutation_p.P441S NM_015017.4 NP_055832.3 Q8TEY7 UBP33_HUMAN ubiquitin specific peptidase 33 441 axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process perinuclear region of cytoplasm|VCB complex cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1) 44 CCTGATTTAGGAGGGCTTGCC 0.403000 26 29 0 0 1 0 0 ST18 9705 broad.mit.edu 37 8 53126851 53126851 + Splice_Site SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:53126851C>T ENST00000276480.7 - 7 651 c.e7-1 NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) GAGGTCATTCCTTTGACATTG 0.423000 23 31 0 0 1 0 0 ZNF599 148103 broad.mit.edu 37 19 35250228 35250228 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:35250228G>A ENST00000329285.7 - 4 1851 c.1478C>T c.(1477-1479)tCc>tTc p.S493F NM_001007248.2 NP_001007249.1 Q96NL3 ZN599_HUMAN zinc finger protein 599 493 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1) 24 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) TCGAGTGAAGGAAGAGCTATA 0.413000 51 93 0 0 1 0 0 SLITRK5 26050 broad.mit.edu 37 13 88327801 88327801 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr13:88327801C>T ENST00000325089.6 + 2 377 c.158C>T c.(157-159)cCt>cTt p.P53L SLITRK5_ENST00000400028.3_Intron NM_015567.1 NP_056382.1 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 53 integral to membrane breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4) 81 all_neural(89;0.101)|Medulloblastoma(90;0.163) AATGCATGTCCTTGTGAGGAA 0.478000 38 70 0 0 1 0 0 COL11A1 1301 broad.mit.edu 37 1 103488399 103488399 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:103488399C>T ENST00000358392.2 - 8 1497 c.1180G>A c.(1180-1182)Gat>Aat p.D394N COL11A1_ENST00000512756.1_Intron|COL11A1_ENST00000370096.3_Missense_Mutation_p.D382N|COL11A1_ENST00000353414.4_Missense_Mutation_p.D343N NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 382 Nonhelical region. 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) TCATAAAAATCATATTCGCCT 0.363000 28 17 0 0 1 0 0 CNTN3 5067 broad.mit.edu 37 3 74315789 74315789 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:74315789C>T ENST00000263665.6 - 21 2856 c.2829G>A c.(2827-2829)agG>agA p.R943R CNTN3_ENST00000477856.1_5'UTR NM_020872.1 NP_065923.1 Q9P232 CNTN3_HUMAN contactin 3 (plasmacytoma associated) 943 Fibronectin type-III 4. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 83 Lung NSC(201;0.138)|Lung SC(41;0.21) Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01) GACTGCTAGTCCTATAGAAAA 0.323000 25 45 0 0 1 0 0 FMN2 56776 broad.mit.edu 37 1 240371744 240371744 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:240371744C>T ENST00000319653.9 + 5 3862 c.3632C>T c.(3631-3633)cCc>cTc p.P1211L NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 1211 FH1.|Pro-rich. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) CCACCTCCTCCCTTGCCAGGT 0.642000 5 3 0 0 1 0 0 SLC6A1 6529 broad.mit.edu 37 3 11072908 11072908 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:11072908G>A ENST00000287766.4 + 13 1790 c.1369G>A c.(1369-1371)Ggc>Agc p.G457S SLC6A1_ENST00000536032.1_Missense_Mutation_p.G279S NM_003042.3 NP_003033.3 P30531 SC6A1_HUMAN solute carrier family 6 (neurotransmitter transporter), member 1 457 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 26 Ovarian(110;0.0392) OV - Ovarian serous cystadenocarcinoma(96;0.00099) Cocaine(DB00907)|Tiagabine(DB00906) CTCTGCCAGTGGCATGAGCCT 0.478000 75 130 0 0 1 0 0 UHRF1BP1 54887 broad.mit.edu 37 6 34838701 34838701 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr6:34838701G>A ENST00000192788.5 + 18 3960 c.3789G>A c.(3787-3789)gaG>gaA p.E1263E UHRF1BP1_ENST00000452449.2_Silent_p.E1263E NM_017754.3 NP_060224.3 Q6BDS2 URFB1_HUMAN UHRF1 binding protein 1 1263 breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2) 54 TTCGCTTTGAGGTGGGGCCTG 0.512000 21 19 0 0 1 0 0 DACH2 117154 broad.mit.edu 37 X 85906077 85906077 + Nonsense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:85906077C>T ENST00000373131.1 + 3 803 c.640C>T c.(640-642)Cag>Tag p.Q214* DACH2_ENST00000510272.1_Nonsense_Mutation_p.Q8*|DACH2_ENST00000373125.4_Nonsense_Mutation_p.Q227*|DACH2_ENST00000508860.1_Nonsense_Mutation_p.Q60* NM_001139514.1 NP_001132986.1 Q96NX9 DACH2_HUMAN dachshund homolog 2 (Drosophila) 227 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 GATGAAACTTCAGAAGATGAA 0.363000 19 20 0 0 1 0 0 TDG 6996 broad.mit.edu 37 12 104378614 104378614 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:104378614G>A ENST00000392872.3 + 8 1114 c.880G>A c.(880-882)Gac>Aac p.D294N TDG_ENST00000544861.1_Missense_Mutation_p.D151N|TDG_ENST00000266775.9_Missense_Mutation_p.D290N|TDG_ENST00000542036.1_Missense_Mutation_p.D90N NM_003211.4 NP_003202.3 Q13569 TDG_HUMAN thymine-DNA glycosylase 294 depyrimidination|mismatch repair nucleoplasm damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 24 BRCA - Breast invasive adenocarcinoma(302;0.00114) AAAACTGAAGGACTTAAGAGA 0.418000 Base excision repair (BER), DNA glycosylases 39 94 0 0 1 0 0 RFX1 5989 broad.mit.edu 37 19 14079442 14079442 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:14079442C>T ENST00000254325.4 - 12 1901 c.1667G>A c.(1666-1668)gGg>gAg p.G556E NM_002918.4 NP_002909.4 P22670 RFX1_HUMAN regulatory factor X, 1 (influences HLA class II expression) 556 immune response nucleus DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(19;6.67e-23) CGGCTGCTGCCCCACCGCCAC 0.662000 36 64 0 0 1 0 0 USP30 84749 broad.mit.edu 37 12 109509480 109509480 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:109509480C>T ENST00000257548.5 + 5 637 c.544C>T c.(544-546)Cgg>Tgg p.R182W USP30_ENST00000392784.2_Missense_Mutation_p.R151W NM_032663.3 NP_116052.2 Q70CQ3 UBP30_HUMAN ubiquitin specific peptidase 30 182 ubiquitin-dependent protein catabolic process integral to membrane|mitochondrial outer membrane cysteine-type peptidase activity|ubiquitin thiolesterase activity p.R173W(1) endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2) 28 CCGCCAGCCTCGGGTCACACA 0.443000 15 62 0 0 1 0 0 ETV3L 440695 broad.mit.edu 37 1 157068517 157068517 + Missense_Mutation SNP G G T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:157068517G>T ENST00000454449.2 - 3 751 c.467C>A c.(466-468)cCc>cAc p.P156H NM_001004341.2 NP_001004341.1 Q6ZN32 ETV3L_HUMAN ets variant 3-like 156 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 24 Hepatocellular(266;0.158) Prostate(1639;0.184) CACACCCACGGGCACCAGCGC 0.662000 12 29 1.52009e-12 1.54038e-12 1 1 0 CTTNBP2NL 55917 broad.mit.edu 37 1 112999862 112999862 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:112999862C>T ENST00000271277.6 + 6 1973 c.1748C>T c.(1747-1749)cCa>cTa p.P583L CTTNBP2NL_ENST00000607039.1_3'UTR|RP4-671G15.3_ENST00000508462.1_RNA NM_018704.2 NP_061174.1 Q9P2B4 CT2NL_HUMAN CTTNBP2 N-terminal like 583 actin cytoskeleton protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 29 all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CCACCCATCCCACCCAAGAAA 0.572000 43 31 0 0 1 0 0 TMED6 146456 broad.mit.edu 37 16 69377544 69377544 + Splice_Site SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr16:69377544C>T ENST00000288025.3 - 4 545 c.e4-1 RP11-343C2.7_ENST00000564737.1_Intron|RP11-343C2.9_ENST00000563634.1_Intron NM_144676.3 NP_653277.2 Q8WW62 TMED6_HUMAN transmembrane emp24 protein transport domain containing 6 transport endoplasmic reticulum membrane|integral to membrane breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|prostate(1)|stomach(1) 9 GTGTGCCGTCCTATGAGAGAG 0.438000 36 72 0 0 1 0 0 ZNF521 25925 broad.mit.edu 37 18 22804787 22804787 + Missense_Mutation SNP G G T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr18:22804787G>T ENST00000361524.3 - 4 3243 c.3095C>A c.(3094-3096)aCc>aAc p.T1032N ZNF521_ENST00000584787.1_Missense_Mutation_p.T812N|ZNF521_ENST00000538137.2_Missense_Mutation_p.T1032N NM_015461.2 NP_056276.1 Q96K83 ZN521_HUMAN zinc finger protein 521 1032 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 149 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) GAGTTCCAAGGTGGAGGTCAC 0.517000 T PAX5 ALL 18 30 5.03518e-11 5.08849e-11 1 1 0 OR2D3 120775 broad.mit.edu 37 11 6942440 6942440 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:6942440C>T ENST00000317834.3 + 1 236 c.208C>T c.(208-210)Cgc>Tgc p.R70C NM_001004684.1 NP_001004684.1 Q8NGH3 OR2D3_HUMAN olfactory receptor, family 2, subfamily D, member 3 70 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) CCTGGATTCTCGCCTTCACAC 0.428000 30 62 0 0 1 0 0 ADAM10 102 broad.mit.edu 37 15 58913713 58913713 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr15:58913713G>A ENST00000260408.3 - 11 1911 c.1468C>T c.(1468-1470)Cca>Tca p.P490S ADAM10_ENST00000561288.1_Intron|ADAM10_ENST00000402627.1_Intron|ADAM10_ENST00000396140.2_Missense_Mutation_p.P189S NM_001110.2 NP_001101.1 O14672 ADA10_HUMAN ADAM metallopeptidase domain 10 490 Disintegrin. cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3) 27 GBM - Glioblastoma multiforme(80;0.202) CTTCCCTCTGGTTGATTTGCA 0.398000 69 79 0 0 1 0 0 HSPG2 3339 broad.mit.edu 37 1 22201441 22201441 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:22201441G>A ENST00000374695.3 - 26 3436 c.3357C>T c.(3355-3357)ccC>ccT p.P1119P NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 1119 Laminin IV type A 2. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) CTTCCAGCGCGGGGTCCTGGC 0.682000 4 11 0 0 1 0 0 PPP2R4 5524 broad.mit.edu 37 9 131899914 131899914 + Silent SNP C C T rs150647017 byFrequency TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr9:131899914C>T ENST00000337738.1 + 9 1101 c.834C>T c.(832-834)gcC>gcT p.A278A PPP2R4_ENST00000452489.2_Silent_p.A278A|PPP2R4_ENST00000355007.3_Silent_p.A201A|PPP2R4_ENST00000358994.4_Silent_p.A243A|PPP2R4_ENST00000347048.4_Intron|PPP2R4_ENST00000393370.2_Silent_p.A243A|PPP2R4_ENST00000348141.5_Silent_p.A249A|PPP2R4_ENST00000357197.4_Silent_p.A214A NM_178001.2 NP_821068.1 Q15257 PTPA_HUMAN protein phosphatase 2A activator, regulatory subunit 4 278 ATP catabolic process|negative regulation of phosphoprotein phosphatase activity|negative regulation of protein dephosphorylation|positive regulation of apoptosis|positive regulation of phosphoprotein phosphatase activity|positive regulation of protein dephosphorylation calcium channel complex|cytoplasm|nucleus|protein phosphatase type 2A complex|soluble fraction ATP binding|peptidyl-prolyl cis-trans isomerase activity|protein heterodimerization activity|protein homodimerization activity|protein phosphatase 2A binding|protein phosphatase type 2A regulator activity|protein tyrosine phosphatase activator activity|receptor binding breast(3)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 12 Medulloblastoma(224;0.235) UCEC - Uterine corpus endometrioid carcinoma (4;0.0178) ATGAGAAGGCCGTGAATGAGA 0.557000 12 4 0 0 1 0 0 CDH6 1004 broad.mit.edu 37 5 31302366 31302366 + Silent SNP C C T rs148607405 TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:31302366C>T ENST00000265071.2 + 6 1225 c.960C>T c.(958-960)acC>acT p.T320T CDH6_ENST00000514738.1_Silent_p.T265T NM_004932.3 NP_004923.1 P55285 CADH6_HUMAN cadherin 6, type 2, K-cadherin (fetal kidney) 320 Cadherin 3. 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 ATGTCATCACCGACCAGGAAA 0.453000 21 42 0 0 1 0 0 IFIT5 24138 broad.mit.edu 37 10 91177400 91177400 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:91177400C>T ENST00000371795.4 + 2 657 c.444C>T c.(442-444)ctC>ctT p.L148L IFIT5_ENST00000416601.1_Silent_p.L148L NM_012420.2 NP_036552.1 Q13325 IFIT5_HUMAN interferon-induced protein with tetratricopeptide repeats 5 148 binding endometrium(1)|large_intestine(4)|lung(4) 9 GCTGGGCACTCTTGAAATTTG 0.428000 43 55 0 0 1 0 0 KAL1 3730 broad.mit.edu 37 X 8503691 8503691 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:8503691C>T ENST00000262648.3 - 12 1932 c.1783G>A c.(1783-1785)Gaa>Aaa p.E595K KAL1_ENST00000481896.1_5'UTR NM_000216.2 NP_000207.2 P23352 KALM_HUMAN Kallmann syndrome 1 sequence 595 Fibronectin type-III 4. axon guidance|cell adhesion|cellular component movement extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1) 32 TGTCTGCTTTCCGTAGTGACC 0.498000 29 22 0 0 1 0 0 TTC39C 125488 broad.mit.edu 37 18 21649177 21649177 + Silent SNP C C A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr18:21649177C>A ENST00000317571.3 + 4 638 c.402C>A c.(400-402)atC>atA p.I134I TTC39C_ENST00000578150.1_Intron|TTC39C_ENST00000304621.6_Silent_p.I73I NM_001135993.1 NP_001129465.1 Q8N584 TT39C_HUMAN tetratricopeptide repeat domain 39C 134 binding breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1) 19 GGCAGATAATCATAGCTGACT 0.413000 32 51 8.69298e-16 8.84117e-16 1 1 0 PCK1 5105 broad.mit.edu 37 20 56139322 56139322 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr20:56139322G>A ENST00000319441.4 + 7 1223 c.1059G>A c.(1057-1059)aaG>aaA p.K353K PCK1_ENST00000535860.1_Silent_p.K221K|PCK1_ENST00000543666.1_Silent_p.K36K NM_002591.3 NP_002582.3 P35558 PCKGC_HUMAN phosphoenolpyruvate carboxykinase 1 (soluble) 353 gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus cytosol|nucleus carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 34 Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07) CCATCCAGAAGAACACAATCT 0.527000 30 42 0 0 1 0 0 ZNF737 100129842 broad.mit.edu 37 19 20748444 20748444 + Splice_Site SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:20748444C>T ENST00000427401.4 - 1 97 c.3_splice c.e1+1 p.M1_splice CTC-513N18.7_ENST00000595094.1_lincRNA|ZNF737_ENST00000596797.1_Splice_Site_p.M1_splice NM_001159293.1 NP_001152765.1 C9JHM3 C9JHM3_HUMAN zinc finger protein 737 1 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1) 13 GCACTCTCACCATTTCTAGGC 0.637000 26 61 0 0 1 0 0 FOLH1B 219595 broad.mit.edu 37 11 89431691 89431691 + RNA SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:89431691G>A ENST00000532352.1 + 0 1973 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 AAGGCCTGGGGAGATGTGAAG 0.473000 43 79 0 0 1 0 0 C14orf79 122616 broad.mit.edu 37 14 105452938 105452938 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr14:105452938C>T ENST00000547315.1 + 1 809 c.170C>T c.(169-171)cCc>cTc p.P57L NM_174891.3 NP_777551.2 Q96F83 CN079_HUMAN chromosome 14 open reading frame 79 57 breast(1)|endometrium(1)|lung(1) 3 all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.00326)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0181) ATCTCCATGCCCCGTGAGGGC 0.602000 26 51 0 0 1 0 0 PLA2G3 50487 broad.mit.edu 37 22 31536191 31536191 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr22:31536191C>T ENST00000215885.3 - 1 402 c.150G>A c.(148-150)aaG>aaA p.K50K NM_015715.3 NP_056530.2 Q9NZ20 PA2G3_HUMAN phospholipase A2, group III 50 cilium morphogenesis|lipid catabolic process|phospholipid metabolic process centriole|extracellular space|plasma membrane calcium ion binding|calcium-dependent phospholipase A2 activity large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1) 18 CCTGAGCATCCTTGGCCAGGA 0.662000 29 75 0 0 1 0 0 PRSS36 146547 broad.mit.edu 37 16 31157264 31157264 + Missense_Mutation SNP A A T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr16:31157264A>T ENST00000268281.4 - 6 624 c.566T>A c.(565-567)cTc>cAc p.L189H PRSS36_ENST00000569305.1_Missense_Mutation_p.L189H|PRSS36_ENST00000418068.2_Missense_Mutation_p.L189H NM_001258290.1|NM_173502.4 NP_001245219.1|NP_775773.2 Q5K4E3 POLS2_HUMAN protease, serine, 36 189 Peptidase S1 1. proteolysis cytoplasm|proteinaceous extracellular matrix serine-type endopeptidase activity kidney(2)|large_intestine(4)|lung(8)|ovary(3) 17 CACCCAGGGGAGAGGCAGAGG 0.602000 18 14 0 0 1 0 0 EPPK1 83481 broad.mit.edu 37 8 144940490 144940490 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:144940490G>A ENST00000525985.1 - 2 7003 c.6932C>T c.(6931-6933)aCc>aTc p.T2311I P58107 EPIPL_HUMAN epiplakin 1 2311 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GTAGGGGTCGGTGTAGCCGGT 0.697000 19 353 0 0 1 0 0 NSD1 64324 broad.mit.edu 37 5 176636701 176636701 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:176636701C>T ENST00000439151.2 + 5 1346 c.1301C>T c.(1300-1302)cCc>cTc p.P434L NSD1_ENST00000347982.4_Missense_Mutation_p.P165L|NSD1_ENST00000361032.4_Missense_Mutation_p.P331L|NSD1_ENST00000354179.4_Missense_Mutation_p.P165L NM_022455.4 NP_071900.2 Q96L73 NSD1_HUMAN nuclear receptor binding SET domain protein 1 434 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3) 96 all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198) Kidney(146;0.235) TATGATGTTCCCAAGGGGTCA 0.378000 T NUP98 AML Sotos Syndrome Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome HNSCC(47;0.14) 25 38 0 0 1 0 0 NLRP13 126204 broad.mit.edu 37 19 56423611 56423611 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:56423611C>T ENST00000588751.1 - 5 1596 c.1572G>A c.(1570-1572)aaG>aaA p.K524K NLRP13_ENST00000342929.3_Silent_p.K524K Q86W25 NAL13_HUMAN NLR family, pyrin domain containing 13 524 NACHT. ATP binding p.K524N(1) NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1) 109 Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218) GBM - Glioblastoma multiforme(193;0.0642) AGTCATTGATCTTTTGAAGAA 0.438000 29 44 0 0 1 0 0 MAST3 23031 broad.mit.edu 37 19 18232672 18232672 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:18232672C>T ENST00000262811.5 + 4 173 c.173C>T c.(172-174)cCc>cTc p.P58L NM_015016.1 NP_055831.1 O60307 MAST3_HUMAN microtubule associated serine/threonine kinase 3 58 ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1) 31 GGCAGCAGCCCCTTGGATAGT 0.637000 22 31 0 0 1 0 0 OR11G2 390439 broad.mit.edu 37 14 20665863 20665863 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr14:20665863C>T ENST00000357366.3 + 1 369 c.369C>T c.(367-369)ttC>ttT p.F123F NM_001005503.1 NP_001005503.1 Q8NGC1 O11G2_HUMAN olfactory receptor, family 11, subfamily G, member 2 123 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 22 all_cancers(95;0.00108) Epithelial(56;9.76e-07)|all cancers(55;5.61e-06) GBM - Glioblastoma multiforme(265;0.0144) TGGCCAACTTCCTCTCTGACA 0.502000 14 19 0 0 1 0 0 TMUB2 79089 broad.mit.edu 37 17 42268212 42268212 + Missense_Mutation SNP T T A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:42268212T>A ENST00000319511.6 + 3 1536 c.886T>A c.(886-888)Ttt>Att p.F296I TMUB2_ENST00000589184.1_3'UTR|TMUB2_ENST00000592825.1_3'UTR|TMUB2_ENST00000587172.1_3'UTR|TMUB2_ENST00000590235.1_3'UTR|TMUB2_ENST00000587989.1_Missense_Mutation_p.F316I|TMUB2_ENST00000538716.2_Missense_Mutation_p.F316I|TMUB2_ENST00000589785.1_Missense_Mutation_p.F296I|TMUB2_ENST00000446571.3_Missense_Mutation_p.F259I|TMUB2_ENST00000357984.3_Missense_Mutation_p.F296I NM_177441.2 NP_803190.2 Q71RG4 TMUB2_HUMAN transmembrane and ubiquitin-like domain containing 2 316 integral to membrane endometrium(2)|kidney(2)|large_intestine(1)|lung(3) 8 Breast(137;0.00765)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.113) CTTCCTAGTATTTGGGATGTA 0.517000 53 82 0 0 1 0 0 ARHGEF16 27237 broad.mit.edu 37 1 3386050 3386050 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:3386050C>T ENST00000378378.4 + 6 1320 c.915C>T c.(913-915)atC>atT p.I305I ARHGEF16_ENST00000378371.2_Silent_p.I17I|ARHGEF16_ENST00000378373.1_Silent_p.I17I NM_014448.3 NP_055263.2 Q5VV41 ARHGG_HUMAN Rho guanine nucleotide exchange factor (GEF) 16 305 DH.|Required for RHOG activation and mediates interaction with EPHA2. activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction cytosol PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity lung(6)|ovary(1) 7 all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101) all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211) Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201) GCCTGAGCATCCTGGTGGAGG 0.622000 31 29 0 0 1 0 0 ZFAND1 79752 broad.mit.edu 37 8 82627224 82627224 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:82627224C>T ENST00000220669.5 - 4 282 c.264G>A c.(262-264)ctG>ctA p.L88L ZFAND1_ENST00000517588.1_5'UTR|ZFAND1_ENST00000522520.1_5'UTR|ZFAND1_ENST00000519523.1_Silent_p.L88L|ZFAND1_ENST00000521895.1_5'UTR|ZFAND1_ENST00000523096.1_Silent_p.L88L|ZFAND1_ENST00000521287.1_5'UTR NM_024699.2 NP_078975.2 Q8TCF1 ZFAN1_HUMAN zinc finger, AN1-type domain 1 88 zinc ion binding kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 13 TCAATCACCTCAGGCAAAAAT 0.393000 34 53 0 0 1 0 0 ZNF626 199777 broad.mit.edu 37 19 20808016 20808016 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:20808016G>A ENST00000601440.1 - 4 813 c.667C>T c.(667-669)Cat>Tat p.H223Y CTC-513N18.7_ENST00000595094.1_lincRNA NM_001076675.2 NP_001070143.1 Q68DY1 ZN626_HUMAN zinc finger protein 626 223 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(1)|lung(3)|skin(1) 6 TCTCCAGTATGAATTTTCTTA 0.388000 20 27 0 0 1 0 0 VCX3B 425054 broad.mit.edu 37 X 8434164 8434164 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:8434164G>A ENST00000381032.1 + 3 788 c.481G>A c.(481-483)Gag>Aag p.E161K VCX3B_ENST00000381029.4_Intron|VCX3B_ENST00000444481.1_Missense_Mutation_p.E131K|VCX3B_ENST00000453306.1_Missense_Mutation_p.E161K|VCX3B_ENST00000440654.2_Intron NM_001001888.3 NP_001001888.3 Q9H321 VCX3B_HUMAN variable charge, X-linked 3B 161 11 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P. nucleolus NS(1)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|urinary_tract(3) 11 GAGCGAGGTGGAGGAACCACT 0.587000 45 346 0 0 1 0 0 WNT7A 7476 broad.mit.edu 37 3 13916522 13916522 + Missense_Mutation SNP G G T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:13916522G>T ENST00000285018.4 - 2 524 c.220C>A c.(220-222)Cag>Aag p.Q74K WNT7A_ENST00000497808.1_5'UTR NM_004625.3 NP_004616.2 O00755 WNT7A_HUMAN wingless-type MMTV integration site family, member 7A 74 activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 24 AACTGAAACTGACACTCGTCC 0.612000 25 42 1.42536e-11 1.44175e-11 1 1 0 PLEKHM1 9842 broad.mit.edu 37 17 43522844 43522844 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:43522844G>A ENST00000430334.3 - 9 2962 c.2829C>T c.(2827-2829)ctC>ctT p.L943L PLEKHM1_ENST00000421073.2_Silent_p.L854L|PLEKHM1_ENST00000580404.1_5'UTR NM_014798.2 NP_055613.1 Q9Y4G2 PKHM1_HUMAN pleckstrin homology domain containing, family M (with RUN domain) member 1 943 intracellular signal transduction cytoplasm metal ion binding breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Renal(3;0.0405) ACCTCTTGCTGAGCTCCTTCA 0.557000 15 23 0 0 1 0 0 SIN3A 25942 broad.mit.edu 37 15 75693073 75693073 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr15:75693073C>T ENST00000394947.3 - 11 2049 c.1735G>A c.(1735-1737)Gag>Aag p.E579K SIN3A_ENST00000360439.4_Missense_Mutation_p.E579K|SIN3A_ENST00000394949.4_Missense_Mutation_p.E579K NM_001145358.1 NP_001138830.1 Q96ST3 SIN3A_HUMAN SIN3 transcription regulator family member A 579 Interaction with NCOR1 (By similarity).|Interactions with SUDS3 and SAP130. blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus|Sin3 complex protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 63 GGCCTTACCTCTTTACAGAGA 0.463000 9 14 0 0 1 0 0 SBSPON 157869 broad.mit.edu 37 8 73979610 73979610 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:73979610G>A ENST00000297354.6 - 5 965 c.761C>T c.(760-762)tCt>tTt p.S254F SBSPON_ENST00000519697.1_5'UTR NM_153225.3 NP_694957.3 Q8IVN8 RPESP_HUMAN somatomedin B and thrombospondin, type 1 domain containing 254 immune response extracellular region polysaccharide binding|scavenger receptor activity p.S249C(1) AGCTGGACAAGAACACTGGTC 0.353000 18 34 0 0 1 0 0 HSPG2 3339 broad.mit.edu 37 1 22178595 22178595 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:22178595G>A ENST00000374695.3 - 53 6935 c.6856C>T c.(6856-6858)Cct>Tct p.P2286S HSPG2_ENST00000430507.1_3'UTR NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 2286 Ig-like C2-type 8. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) TGCCGGGCAGGGAGGCTGCCC 0.667000 16 47 0 0 1 0 0 FMN2 56776 broad.mit.edu 37 1 240371745 240371745 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:240371745C>T ENST00000319653.9 + 5 3863 c.3633C>T c.(3631-3633)ccC>ccT p.P1211P NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 1211 FH1.|Pro-rich. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) CACCTCCTCCCTTGCCAGGTA 0.642000 5 3 0 0 1 0 0 ZSWIM3 140831 broad.mit.edu 37 20 44505937 44505937 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr20:44505937G>A ENST00000255152.2 + 2 949 c.740G>A c.(739-741)cGa>cAa p.R247Q ZSWIM3_ENST00000454862.2_Missense_Mutation_p.R241Q NM_080752.3 NP_542790.2 Q96MP5 ZSWM3_HUMAN zinc finger, SWIM-type containing 3 247 zinc ion binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 35 Myeloproliferative disorder(115;0.0122) CGAGAAAGTCGAGTGGTGCAC 0.532000 34 49 0 0 1 0 0 SP100 6672 broad.mit.edu 37 2 231380099 231380099 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:231380099C>T ENST00000264052.5 + 25 2739 c.2384C>T c.(2383-2385)tCc>tTc p.S795F SP100_ENST00000340126.4_Intron NM_003113.3 NP_003104.2 P23497 SP100_HUMAN SP100 nuclear antigen 795 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon cytoplasm|nuclear periphery|nucleolus|PML body chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1) 25 Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) CCTGGCCTGTCCATTGATGAT 0.463000 23 22 0 0 1 0 0 PNPLA7 375775 broad.mit.edu 37 9 140391671 140391671 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr9:140391671C>T ENST00000406427.1 - 18 2317 c.1981G>A c.(1981-1983)Ggg>Agg p.G661R PNPLA7_ENST00000277531.4_Missense_Mutation_p.G636R|PNPLA7_ENST00000371457.1_Missense_Mutation_p.G242R NM_001098537.1 NP_001092007.1 Q6ZV29 PLPL7_HUMAN patatin-like phospholipase domain containing 7 636 lipid metabolic process endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane hydrolase activity breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 all_cancers(76;0.126) OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839) CCGTACTCCCCGGCCAGGCGC 0.667000 8 7 0 0 1 0 0 CYP11A1 1583 broad.mit.edu 37 15 74631110 74631110 + Splice_Site SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr15:74631110C>T ENST00000358632.4 - 8 1458 c.e8-1 CYP11A1_ENST00000419019.2_Splice_Site|CYP11A1_ENST00000268053.6_Splice_Site NM_001099773.1 NP_001093243.1 P05108 CP11A_HUMAN cytochrome P450, family 11, subfamily A, polypeptide 1 C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process mitochondrial matrix cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108) GCACCAGTGTCTGGGGCAAGG 0.582000 16 22 0 0 1 0 0 FYCO1 79443 broad.mit.edu 37 3 46008175 46008175 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:46008175G>A ENST00000296137.2 - 8 2856 c.2651C>T c.(2650-2652)tCc>tTc p.S884F FYCO1_ENST00000535325.1_Missense_Mutation_p.S884F NM_024513.3 NP_078789.2 Q9BQS8 FYCO1_HUMAN FYVE and coiled-coil domain containing 1 884 transport integral to membrane metal ion binding|protein binding NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 54 BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323) TGCTTCCTCGGAGCTGCATTT 0.657000 11 23 0 0 1 0 0 IDUA 3425 broad.mit.edu 37 4 981721 981721 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr4:981721G>A ENST00000247933.4 + 2 371 c.283G>A c.(283-285)Gag>Aag p.E95K IDUA_ENST00000509744.1_3'UTR|SLC26A1_ENST00000398520.2_Intron|SLC26A1_ENST00000361661.2_3'UTR|IDUA_ENST00000453894.1_Intron NM_000203.3 NP_000194.2 P35475 IDUA_HUMAN iduronidase, alpha-L- 95 disaccharide metabolic process lysosome cation binding|L-iduronidase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1) 12 OV - Ovarian serous cystadenocarcinoma(23;0.0158) Laronidase(DB00090) CTGGCTGCTGGAGCTTGTCAC 0.677000 3 11 0 0 1 0 0 NFKBIZ 64332 broad.mit.edu 37 3 101571959 101571959 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:101571959G>A ENST00000326172.5 + 5 704 c.589G>A c.(589-591)Ggg>Agg p.G197R NFKBIZ_ENST00000394054.2_Missense_Mutation_p.G97R|NFKBIZ_ENST00000326151.5_Missense_Mutation_p.G197R NM_031419.3 NP_113607.1 Q9BYH8 IKBZ_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta 197 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 24 ACCAACGCCCGGGGAGAGCAT 0.438000 30 49 0 0 1 0 0 CATSPERD 257062 broad.mit.edu 37 19 5749141 5749141 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:5749141G>A ENST00000381624.3 + 11 995 c.934G>A c.(934-936)Gag>Aag p.E312K CATSPERD_ENST00000381614.2_5'UTR NM_152784.3 NP_689997.3 Q86XM0 TM146_HUMAN catsper channel auxiliary subunit delta 312 integral to membrane TATAACTCGGGAGGATAATTT 0.403000 23 12 0 0 1 0 0 CRAMP1L 57585 broad.mit.edu 37 16 1716089 1716089 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr16:1716089G>A ENST00000397412.3 + 15 2867 c.2768G>A c.(2767-2769)cGg>cAg p.R923Q CRAMP1L_ENST00000436138.3_Missense_Mutation_p.R920Q|CRAMP1L_ENST00000293925.5_Missense_Mutation_p.R923Q|CRAMP1L_ENST00000262317.4_Missense_Mutation_p.R301Q|LA16c-431H6.6_ENST00000454337.1_3'UTR Q96RY5 CRML_HUMAN Crm, cramped-like (Drosophila) 923 nucleus DNA binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1) 22 GGTTCGTTCCGGCCCATCCAG 0.627000 4 8 0 0 1 0 0 IQCE 23288 broad.mit.edu 37 7 2613060 2613060 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:2613060C>T ENST00000402050.2 + 6 587 c.403C>T c.(403-405)Cct>Tct p.P135S IQCE_ENST00000438376.2_Missense_Mutation_p.P119S|IQCE_ENST00000404984.1_Missense_Mutation_p.P84S|IQCE_ENST00000325979.7_Missense_Mutation_p.P70S NM_001100390.1|NM_152558.3 NP_001093860.1|NP_689771.3 Q6IPM2 IQCE_HUMAN IQ motif containing E 135 breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;1.23e-13) AGGTCATGTCCCTGGGACTCC 0.348000 17 39 0 0 1 0 0 NCOR2 9612 broad.mit.edu 37 12 124824683 124824683 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:124824683G>A ENST00000356219.3 - 38 5732 c.5577C>T c.(5575-5577)tcC>tcT p.S1859S NCOR2_ENST00000404621.1_Silent_p.S1842S|NCOR2_ENST00000429285.2_Silent_p.S1842S|NCOR2_ENST00000405201.1_Silent_p.S1852S|NCOR2_ENST00000404121.2_Silent_p.S1413S|NCOR2_ENST00000397355.1_Silent_p.S1843S NM_006312.5 NP_006303.4 Q9Y618 NCOR2_HUMAN nuclear receptor corepressor 2 1863 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) GGTGGGCATGGGAGTGGGAGG 0.667000 34 26 0 0 1 0 0 LTBP1 4052 broad.mit.edu 37 2 33246017 33246017 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:33246017C>T ENST00000404816.2 + 3 960 c.607C>T c.(607-609)Cgg>Tgg p.R203W LTBP1_ENST00000354476.3_Missense_Mutation_p.R203W Q14766 LTBP1_HUMAN latent transforming growth factor beta binding protein 1 203 EGF-like 1. negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3) 108 all_hematologic(175;0.115) Medulloblastoma(90;0.215) GATGTGTCTCCGGCCACAACT 0.502000 104 168 0 0 1 0 0 RIMBP3 85376 broad.mit.edu 37 22 20457162 20457162 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr22:20457162C>T ENST00000426804.1 - 1 4624 c.4140G>A c.(4138-4140)aaG>aaA p.K1380K NM_015672.1 NP_056487.1 RIMS binding protein 3 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1) 13 Colorectal(54;0.0993)|Melanoma(16;0.165) LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224) CCTGCTCCTCCTTCAAAACGT 0.587000 9 16 0 0 1 0 0 ZNF350 59348 broad.mit.edu 37 19 52468506 52468506 + Silent SNP T T C TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:52468506T>C ENST00000243644.4 - 5 1427 c.1200A>G c.(1198-1200)agA>agG p.R400R HCCAT3_ENST00000600253.1_RNA|HCCAT3_ENST00000595010.1_RNA NM_021632.3 NP_067645.3 Q9GZX5 ZN350_HUMAN zinc finger protein 350 400 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear matrix|transcriptional repressor complex DNA binding|protein binding|zinc ion binding breast(4)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 26 all_neural(266;0.0505) GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179) AGCCATAGGGTCTCTCTCCTG 0.453000 17 28 0 0 1 0 0 ANKK1 255239 broad.mit.edu 37 11 113270783 113270783 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:113270783C>T ENST00000303941.3 + 8 2186 c.2092C>T c.(2092-2094)Ctg>Ttg p.L698L NM_178510.1 NP_848605.1 Q8NFD2 ANKK1_HUMAN ankyrin repeat and kinase domain containing 1 698 ATP binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1) 29 all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194) BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238) ACCCGCCCACCTGGCCGCCCT 0.627000 24 28 0 0 1 0 0 UPK2 7379 broad.mit.edu 37 11 118827128 118827128 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:118827128G>A ENST00000264031.2 + 1 103 c.68G>A c.(67-69)gGg>gAg p.G23E UPK2_ENST00000534788.1_Intron NM_006760.3 NP_006751.1 O00526 UPK2_HUMAN uroplakin 2 23 cellular membrane organization|epithelial cell differentiation|multicellular organismal development integral to endoplasmic reticulum membrane|integral to plasma membrane kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1) 5 all_hematologic(175;0.0839) Medulloblastoma(222;0.0523)|all_hematologic(192;0.122)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;7.47e-05) CTGTCCCCAGGGGCTGCAGGT 0.642000 24 29 0 0 1 0 0 TSHZ1 10194 broad.mit.edu 37 18 72999357 72999357 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr18:72999357C>T ENST00000322038.5 + 2 2444 c.1860C>T c.(1858-1860)tcC>tcT p.S620S TSHZ1_ENST00000580243.1_Silent_p.S665S NM_005786.5 NP_005777.3 Q6ZSZ6 TSH1_HUMAN teashirt zinc finger homeobox 1 665 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2) 42 Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211) Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246) AGAAGAGCTCCCTGGCCAAGG 0.557000 26 46 0 0 1 0 0 MFHAS1 9258 broad.mit.edu 37 8 8750011 8750011 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:8750011C>T ENST00000276282.6 - 1 1144 c.558G>A c.(556-558)ctG>ctA p.L186L NM_004225.2 NP_004216.2 Q9Y4C4 MFHA1_HUMAN malignant fibrous histiocytoma amplified sequence 1 186 endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1) 21 Hepatocellular(245;0.217) COAD - Colon adenocarcinoma(149;0.124) GATCCACGTCCAGGGTGCGCA 0.682000 8 8 0 0 1 0 0 ITGA11 22801 broad.mit.edu 37 15 68624319 68624319 + Nonsense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr15:68624319G>A ENST00000423218.2 - 14 1743 c.1648C>T c.(1648-1650)Cga>Tga p.R550* ITGA11_ENST00000315757.7_Nonsense_Mutation_p.R550* Q9UKX5 ITA11_HUMAN integrin, alpha 11 550 cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development integrin complex collagen binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 52 Tirofiban(DB00775) TTGAGGTCTCGAACTGAGGCA 0.537000 10 14 0 0 1 0 0 GKN1 56287 broad.mit.edu 37 2 69207908 69207908 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:69207908C>T ENST00000377938.2 + 6 616 c.553C>T c.(553-555)Cta>Tta p.L185L NM_019617.3 NP_062563.3 Q9NS71 GKN1_HUMAN gastrokine 1 185 digestion|positive regulation of cell division extracellular region breast(2)|large_intestine(4)|lung(5) 11 GACCAGTGTACTATGGATTGT 0.373000 20 29 0 0 1 0 0 ARHGAP21 57584 broad.mit.edu 37 10 24908778 24908778 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:24908778G>A ENST00000396432.2 - 9 2532 c.2046C>T c.(2044-2046)tcC>tcT p.S682S ARHGAP21_ENST00000320481.6_Silent_p.S469S NM_020824.3 NP_065875.3 Q5T5U3 RHG21_HUMAN Rho GTPase activating protein 21 681 signal transduction cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane GTPase activator activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1) 78 ATAAAGAGGGGGATTTCCCAG 0.483000 17 37 0 0 1 0 0 BRD8 10902 broad.mit.edu 37 5 137500054 137500054 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:137500054C>T ENST00000254900.5 - 13 2151 c.1780G>A c.(1780-1782)Gaa>Aaa p.E594K BRD8_ENST00000455658.2_Missense_Mutation_p.E553K|BRD8_ENST00000402931.1_Missense_Mutation_p.E594K|BRD8_ENST00000230901.5_Missense_Mutation_p.E667K|BRD8_ENST00000411594.2_Missense_Mutation_p.E597K|BRD8_ENST00000515014.1_5'UTR NM_139199.1 NP_631938.1 Q9H0E9 BRD8_HUMAN bromodomain containing 8 594 cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter mitochondrion|NuA4 histone acetyltransferase complex sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1) 35 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) AAAGGATCTTCAATGGGATTT 0.413000 35 72 0 0 1 0 0 C20orf26 26074 broad.mit.edu 37 20 20150022 20150022 + Nonsense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr20:20150022C>T ENST00000245957.5 + 13 1379 c.1303C>T c.(1303-1305)Cag>Tag p.Q435* C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377306.1_Nonsense_Mutation_p.Q435*|C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000451767.2_Nonsense_Mutation_p.Q435* NM_015585.3 NP_056400.3 Q8NHU2 CT026_HUMAN chromosome 20 open reading frame 26 435 NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 77 READ - Rectum adenocarcinoma(2;0.171) CTTCCTCATCCAGAACTTCGT 0.458000 25 51 0 0 1 0 0 PPP2R3A 5523 broad.mit.edu 37 3 135721087 135721087 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:135721087C>T ENST00000264977.3 + 2 1364 c.747C>T c.(745-747)atC>atT p.I249I PPP2R3A_ENST00000490467.1_Intron NM_001190447.1|NM_002718.4 NP_001177376.1|NP_002709.2 Q06190 P2R3A_HUMAN protein phosphatase 2, regulatory subunit B'', alpha 249 protein dephosphorylation protein phosphatase type 2A complex calcium ion binding|protein binding|protein phosphatase type 2A regulator activity breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 GCACAGACATCATAAAACAAT 0.318000 18 25 0 0 1 0 0 SH3RF2 153769 broad.mit.edu 37 5 145439428 145439428 + Splice_Site SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:145439428G>A ENST00000511217.1 + 8 1607 c.e8-1 SH3RF2_ENST00000359120.4_Splice_Site|SH3RF2_ENST00000511705.1_Splice_Site Q8TEC5 SH3R2_HUMAN SH3 domain containing ring finger 2 ligase activity|protein phosphatase 1 binding|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1) 22 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TAATTCCCCAGATGGATCCCT 0.597000 15 42 0 0 1 0 0 BPIFB3 359710 broad.mit.edu 37 20 31652273 31652273 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr20:31652273C>T ENST00000375494.3 + 7 663 c.663C>T c.(661-663)tcC>tcT p.S221S NM_182658.1 NP_872599.1 P59826 LPLC3_HUMAN BPI fold containing family B, member 3 221 Leu-rich. innate immune response cytoplasm|extracellular region lipid binding|protein binding GCCTGGTGTCCCTTGGGGCTC 0.527000 15 33 0 0 1 0 0 FOLH1B 219595 broad.mit.edu 37 11 89405125 89405125 + RNA SNP A A T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:89405125A>T ENST00000532352.1 + 0 1065 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 AGAGTGGAGCAGCTGTTGTTC 0.418000 25 43 0 0 1 0 0 DIP2B 57609 broad.mit.edu 37 12 51135298 51135298 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:51135298G>A ENST00000301180.5 + 37 4488 c.4454G>A c.(4453-4455)cGg>cAg p.R1485Q NM_173602.2 NP_775873.2 Q9P265 DIP2B_HUMAN DIP2 disco-interacting protein 2 homolog B (Drosophila) 1485 nucleus catalytic activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 60 TCGGTGTCCCGGATCCACAGA 0.463000 27 36 0 0 1 0 0 TGM3 7053 broad.mit.edu 37 20 2308911 2308911 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr20:2308911G>A ENST00000381458.5 + 9 1296 c.1233G>A c.(1231-1233)aaG>aaA p.K411K NM_003245.3 NP_003236.3 Q08188 TGM3_HUMAN transglutaminase 3 411 cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization cytoplasm|extrinsic to internal side of plasma membrane acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 39 L-Glutamine(DB00130) AACAGTGGAAGAATTCCGTGA 0.537000 26 54 0 0 1 0 0 NKRF 55922 broad.mit.edu 37 X 118723541 118723541 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:118723541G>A ENST00000371527.1 - 2 2499 c.1847C>T c.(1846-1848)tCc>tTc p.S616F NKRF_ENST00000304449.5_Missense_Mutation_p.S616F|NKRF_ENST00000487600.1_Intron|NKRF_ENST00000542113.1_Missense_Mutation_p.S631F NM_001173488.1 NP_001166959.1 O15226 NKRF_HUMAN NFKB repressing factor 616 R3H. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|double-stranded RNA binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1) 30 GTGGCTCTCGGAGCGGGCGTA 0.443000 60 96 0 0 1 0 0 KBTBD2 25948 broad.mit.edu 37 7 32910196 32910196 + Missense_Mutation SNP C C A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:32910196C>A ENST00000304056.4 - 4 1332 c.633G>T c.(631-633)caG>caT p.Q211H AVL9_ENST00000404479.1_Intron NM_015483.2 NP_056298.2 Q8IY47 KBTB2_HUMAN kelch repeat and BTB (POZ) domain containing 2 211 endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1) 17 GBM - Glioblastoma multiforme(11;0.0499) AAGACAAATACTGGGATCGTG 0.403000 37 72 1.30998e-17 1.33394e-17 1 1 0 IGHV1-18 28468 broad.mit.edu 37 14 106641986 106641986 + RNA SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr14:106641986G>A ENST00000390605.2 - 0 70 GGATGCTCCAGGTCCAGTCCA 0.542000 10 20 0 0 1 0 0 WNT1 7471 broad.mit.edu 37 12 49373452 49373452 + Nonsense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:49373452G>A ENST00000293549.3 + 2 342 c.306G>A c.(304-306)tgG>tgA p.W102* NM_005430.3 NP_005421.1 P04628 WNT1_HUMAN wingless-type MMTV integration site family, member 1 102 brain segmentation|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|central nervous system morphogenesis|cerebellum formation|dermatome development|diencephalon development|embryonic axis specification|forebrain anterior/posterior pattern formation|fourth ventricle development|hemopoietic stem cell proliferation|hepatocyte differentiation|inner ear morphogenesis|mesoderm morphogenesis|midbrain development|midbrain-hindbrain boundary maturation during brain development|negative regulation of cell-cell adhesion|negative regulation of cell-substrate adhesion|negative regulation of DNA damage checkpoint|negative regulation of fat cell differentiation|neuron fate determination|positive regulation of fibroblast proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of lamellipodium assembly|positive regulation of Notch signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to wounding|signal transduction in response to DNA damage|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway, calcium modulating pathway early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix cytokine activity|frizzled-2 binding|transcription regulatory region DNA binding endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1) 11 BRCA - Breast invasive adenocarcinoma(357;0.244) ATCGCCGCTGGAACTGTCCCA 0.662000 20 32 0 0 1 0 0 KIRREL2 84063 broad.mit.edu 37 19 36351463 36351463 + Silent SNP A A T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:36351463A>T ENST00000360202.5 + 7 1020 c.822A>T c.(820-822)ccA>ccT p.P274P KIRREL2_ENST00000347900.6_Silent_p.P224P|KIRREL2_ENST00000586102.2_Silent_p.P254P|KIRREL2_ENST00000262625.7_Silent_p.P274P|KIRREL2_ENST00000592409.1_Silent_p.P274P|NPHS1_ENST00000591817.1_Intron NM_032123.5|NM_199180.2 NP_115499.4|NP_954649.2 Q6UWL6 KIRR2_HUMAN kin of IRRE like 2 (Drosophila) 274 Ig-like C2-type 3. cell adhesion integral to membrane|plasma membrane breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 48 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) CCCGCGGGCCAAGGTTAGAGG 0.647000 33 49 0 0 1 0 0 TCHHL1 126637 broad.mit.edu 37 1 152057805 152057805 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:152057805C>T ENST00000368806.1 - 3 2417 c.2353G>A c.(2353-2355)Gac>Aac p.D785N NM_001008536.1 NP_001008536.1 Q5QJ38 TCHL1_HUMAN trichohyalin-like 1 785 calcium ion binding p.D785Y(1) breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1) 60 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.246) GGCTCTTGGTCTCTCTGCATC 0.488000 40 43 0 0 1 0 0 ARL14 80117 broad.mit.edu 37 3 160395579 160395579 + Silent SNP C C A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:160395579C>A ENST00000320767.2 + 1 632 c.445C>A c.(445-447)Cgg>Agg p.R149R NM_025047.2 NP_079323.1 Q8N4G2 ARL14_HUMAN ADP-ribosylation factor-like 14 149 small GTPase mediated signal transduction intracellular GTP binding lung(6) 6 Lung(72;7.02e-05)|LUSC - Lung squamous cell carcinoma(72;7.23e-05) TTGCAGTGACCGGAACTGGTA 0.502000 27 31 7.92952e-12 8.02318e-12 1 1 0 HFM1 164045 broad.mit.edu 37 1 91731618 91731618 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:91731618G>A ENST00000370425.3 - 36 4028 c.3930C>T c.(3928-3930)ccC>ccT p.P1310P HFM1_ENST00000294696.5_Intron|HFM1_ENST00000370424.3_Silent_p.P989P|HFM1_ENST00000462405.1_Intron NM_001017975.3 NP_001017975.3 A2PYH4 HFM1_HUMAN HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) 1310 ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 75 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) ACTCTTGAAGGGGTAGCTTAC 0.363000 14 45 0 0 1 0 0 FAM90A1 55138 broad.mit.edu 37 12 8377331 8377331 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:8377331G>A ENST00000538603.1 - 4 656 c.98C>T c.(97-99)cCc>cTc p.P33L FAM90A1_ENST00000307435.6_Missense_Mutation_p.P33L NM_018088.3 NP_060558.3 Q86YD7 F90A1_HUMAN family with sequence similarity 90, member A1 33 nucleic acid binding|zinc ion binding endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 25 Kidney(36;0.0866) ATCGGGCGGGGGAGCCCTTGG 0.642000 3 4 0 0 1 0 0 USP51 158880 broad.mit.edu 37 X 55513685 55513685 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:55513685C>T ENST00000500968.3 - 2 1770 c.1688G>A c.(1687-1689)gGa>gAa p.G563E USP51_ENST00000586165.1_5'UTR NM_201286.3 NP_958443.1 Q70EK9 UBP51_HUMAN ubiquitin specific peptidase 51 563 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 30 GGCACTGCTTCCTAGGTGCTC 0.468000 20 34 0 0 1 0 0 STAB1 23166 broad.mit.edu 37 3 52557097 52557097 + Missense_Mutation SNP G G T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:52557097G>T ENST00000321725.6 + 63 7043 c.6967G>T c.(6967-6969)Ggg>Tgg p.G2323W NM_015136.2 NP_055951.2 Q9NY15 STAB1_HUMAN stabilin 1 2323 FAS1 7. cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 76 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) CACGTGCAATGGGAAGCTGCT 0.627000 43 85 3.05275e-18 3.11142e-18 1 1 0 DENND4B 9909 broad.mit.edu 37 1 153914419 153914419 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:153914419G>A ENST00000361217.4 - 6 1399 c.981C>T c.(979-981)ttC>ttT p.F327F NM_014856.2 NP_055671.2 O75064 DEN4B_HUMAN DENN/MADD domain containing 4B 327 DENN. NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 36 all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) GGAAGGCAGGGAAGGCAGGCC 0.692000 12 18 0 0 1 0 0 TRIM39 56658 broad.mit.edu 37 6 30309968 30309968 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr6:30309968C>T ENST00000376659.5 + 8 1997 c.1399C>T c.(1399-1401)Cca>Tca p.P467S TRIM39_ENST00000396551.3_Missense_Mutation_p.P467S|TRIM39_ENST00000396548.1_Missense_Mutation_p.P467S|TRIM39-RPP21_ENST00000513556.1_Intron|TRIM39_ENST00000540416.1_Missense_Mutation_p.P467S|TRIM39_ENST00000376656.4_Missense_Mutation_p.P497S|TRIM39_ENST00000396547.1_Missense_Mutation_p.P497S NM_172016.2 NP_742013.1 tripartite motif containing 39 p.P497S(1) ovary(3) 3 CCTCTTCTACCCAGGCATCCG 0.527000 31 14 0 0 1 0 0 MCM3AP 8888 broad.mit.edu 37 21 47678978 47678978 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr21:47678978G>A ENST00000397708.1 - 17 3863 c.3609C>T c.(3607-3609)gtC>gtT p.V1203V MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP_ENST00000291688.1_Silent_p.V1203V|MCM3AP_ENST00000467026.1_5'UTR O60318 MCM3A_HUMAN minichromosome maintenance complex component 3 associated protein 1203 DNA replication|protein import into nucleus cytosol|nucleus DNA binding|nucleotide binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 72 Breast(49;0.112) GGGCCACACGGACCCTCTGGT 0.537000 5 85 0 0 1 0 0 SLC27A5 10998 broad.mit.edu 37 19 59010872 59010872 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:59010872C>T ENST00000263093.2 - 7 1763 c.1654G>A c.(1654-1656)Ggg>Agg p.G552R SLC27A5_ENST00000601355.1_Missense_Mutation_p.G468R NM_012254.2 NP_036386.1 Q9Y2P5 S27A5_HUMAN solute carrier family 27 (fatty acid transporter), member 5 552 bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process endoplasmic reticulum membrane|integral to membrane ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 19 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181) AAGGTGTCCCCGAGGCGGTCG 0.667000 15 23 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179585147 179585147 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:179585147C>T ENST00000589042.1 - 80 23566 c.23342G>A c.(23341-23343)gGa>gAa p.G7781E TTN_ENST00000342992.6_Missense_Mutation_p.G6537E|TTN_ENST00000591111.1_Missense_Mutation_p.G7464E|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 7464 Ig-like 60. 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) CGTGTCACTTCCCACCTCATT 0.383000 32 59 0 0 1 0 0 ZNF662 389114 broad.mit.edu 37 3 42954791 42954791 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:42954791C>T ENST00000541208.1 + 4 619 c.250C>T c.(250-252)Ccg>Tcg p.P84S KRBOX1_ENST00000426937.1_Intron|ZNF662_ENST00000422021.1_Intron|ZNF662_ENST00000328199.6_Intron|ZNF662_ENST00000430067.2_3'UTR|ZNF662_ENST00000440367.2_Missense_Mutation_p.P84S Q6ZS27 ZN662_HUMAN zinc finger protein 662 84 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1) 15 KIRC - Kidney renal clear cell carcinoma(284;0.217) CCTGATTTGTCCGGGTAAGTG 0.423000 19 33 0 0 1 0 0 SLCO1B1 10599 broad.mit.edu 37 12 21355470 21355470 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:21355470G>A ENST00000256958.2 + 10 1277 c.1181G>A c.(1180-1182)gGa>gAa p.G394E NM_006446.4 NP_006437.3 Q9Y6L6 SO1B1_HUMAN solute carrier organic anion transporter family, member 1B1 394 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 p.G394E(1) 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) TTTTTAGGAGGATATATCATT 0.289000 15 26 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152497159 152497159 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:152497159G>A ENST00000397345.3 - 61 8597 c.8395C>T c.(8395-8397)Cgt>Tgt p.R2799C NEB_ENST00000409198.1_Missense_Mutation_p.R2799C|NEB_ENST00000172853.10_Missense_Mutation_p.R2799C|NEB_ENST00000427231.2_Missense_Mutation_p.R2799C|NEB_ENST00000604864.1_Missense_Mutation_p.R2799C|NEB_ENST00000603639.1_Missense_Mutation_p.R2799C NM_001164508.1 NP_001157980.1 P20929 NEBU_HUMAN nebulin 2799 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) AGCTGCTTACGATAGCCTTCT 0.433000 43 81 0 0 1 0 0 FARP1 10160 broad.mit.edu 37 13 99064191 99064191 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr13:99064191C>T ENST00000376586.2 + 16 2065 c.1729C>T c.(1729-1731)Ccg>Tcg p.P577S FARP1_ENST00000319562.6_Missense_Mutation_p.P577S|FARP1_ENST00000595437.1_Missense_Mutation_p.P577S Q9Y4F1 FARP1_HUMAN FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) 577 DH. regulation of Rho protein signal transduction cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1) 49 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.233) GGACGCCATGCCGGAAGCACT 0.443000 47 119 0 0 1 0 0 FMR1NB 158521 broad.mit.edu 37 X 147063088 147063088 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:147063088G>A ENST00000370467.3 + 1 240 c.166G>A c.(166-168)Gga>Aga p.G56R NM_152578.2 NP_689791.1 Q8N0W7 FMR1N_HUMAN fragile X mental retardation 1 neighbor 56 integral to membrane breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1) 25 Acute lymphoblastic leukemia(192;6.56e-05) GCCTCAGCCAGGATGGCGGGA 0.547000 39 63 0 0 1 0 0 ARL6IP5 10550 broad.mit.edu 37 3 69151019 69151019 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:69151019G>A ENST00000273258.3 + 2 310 c.206G>A c.(205-207)gGa>gAa p.G69E ARL6IP5_ENST00000478935.1_Intron NM_006407.3 NP_006398.1 O75915 PRAF3_HUMAN ADP-ribosylation-like factor 6 interacting protein 5 69 L-glutamate transport endoplasmic reticulum membrane|integral to membrane biliary_tract(1)|endometrium(1)|large_intestine(2)|ovary(1)|prostate(1)|urinary_tract(1) 7 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;7.78e-05)|Epithelial(33;0.000818)|LUSC - Lung squamous cell carcinoma(21;0.0118)|Lung(16;0.0189)|KIRC - Kidney renal clear cell carcinoma(39;0.203)|Kidney(39;0.238) ATGATCCTGGGAGGAATCGTG 0.493000 14 23 0 0 1 0 0 STAG1 10274 broad.mit.edu 37 3 136141885 136141885 + Splice_Site SNP A A C TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:136141885A>C ENST00000383202.2 - 17 1908 c.1650_splice c.e17-1 p.V551_splice STAG1_ENST00000236698.5_Splice_Site_p.V551_splice|STAG1_ENST00000434713.2_Splice_Site_p.V325_splice|STAG1_ENST00000536929.1_Splice_Site_p.V135_splice NM_005862.2 NP_005853.2 Q8WVM7 STAG1_HUMAN stromal antigen 1 551 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 GGCAGTTAGCACCTAGAAACA 0.299000 8 10 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132471080 132471080 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:132471080C>T ENST00000333577.4 + 7 2168 c.2059C>T c.(2059-2061)Cct>Tct p.P687S EP400_ENST00000389561.2_Missense_Mutation_p.P651S|EP400_ENST00000330386.6_Missense_Mutation_p.P651S|EP400_ENST00000389562.2_Missense_Mutation_p.P650S|EP400_ENST00000332482.4_Missense_Mutation_p.P614S Q96L91 EP400_HUMAN E1A binding protein p400 687 histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) GACAAGGCTCCCTGTGGACCC 0.657000 39 95 0 0 1 0 0 APC 324 broad.mit.edu 37 5 112177570 112177570 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:112177570C>T ENST00000457016.1 + 16 6659 c.6279C>T c.(6277-6279)tcC>tcT p.S2093S CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Silent_p.S2093S|APC_ENST00000257430.4_Silent_p.S2093S P25054 APC_HUMAN adenomatous polyposis coli 2093 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.?(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) ATGGTCTATCCCCTGATTCAG 0.378000 12 """D, Mis, N, F, S""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" """colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS""" Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis TSP Lung(16;0.13) 34 65 0 0 1 0 0 HCAR3 8843 broad.mit.edu 37 12 123200389 123200389 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:123200389G>A ENST00000528880.2 - 1 1050 c.896C>T c.(895-897)cCa>cTa p.P299L RP11-324E6.6_ENST00000543611.1_lincRNA|HCAR1_ENST00000356987.2_Intron NM_006018.2 NP_006009.2 P49019 HCAR3_HUMAN hydroxycarboxylic acid receptor 3 299 integral to plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 9 Mepenzolate(DB04843)|Niacin(DB00627) GGGAAAGGATGGGCTGGAGAA 0.527000 26 16 0 0 1 0 0 SALL3 27164 broad.mit.edu 37 18 76753296 76753296 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr18:76753296C>T ENST00000536229.3 + 1 1615 c.906C>T c.(904-906)ctC>ctT p.L302L SALL3_ENST00000575389.2_Silent_p.L435L|SALL3_ENST00000537592.2_Silent_p.L435L Q9BXA9 SALL3_HUMAN spalt-like transcription factor 3 435 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) ACAGCGCGCTCCAGATCCACC 0.612000 8 13 0 0 1 0 0 FYB 2533 broad.mit.edu 37 5 39127891 39127891 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:39127891G>A ENST00000351578.6 - 11 2049 c.1859C>T c.(1858-1860)cCa>cTa p.P620L FYB_ENST00000512982.1_Missense_Mutation_p.P620L|FYB_ENST00000540520.1_Missense_Mutation_p.P630L|FYB_ENST00000515010.1_Missense_Mutation_p.P620L|FYB_ENST00000505428.1_Missense_Mutation_p.P620L NM_199335.3 NP_955367.1 O15117 FYB_HUMAN FYN binding protein 620 Poly-Pro. cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway cytosol|nucleus protein binding endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1) 45 all_lung(31;0.000343) Epithelial(62;0.235) GTCATCATCTGGTGGTGGAGG 0.328000 6 10 0 0 1 0 0 ANKFY1 51479 broad.mit.edu 37 17 4085590 4085590 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:4085590G>A ENST00000341657.4 - 15 2042 c.2007C>T c.(2005-2007)ctC>ctT p.L669L CYB5D2_ENST00000573984.1_Intron|ANKFY1_ENST00000574367.1_Silent_p.L670L|ANKFY1_ENST00000570535.1_Silent_p.L711L NM_016376.3 NP_057460.3 Q9P2R3 ANFY1_HUMAN ankyrin repeat and FYVE domain containing 1 669 endosome membrane metal ion binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 CATCAACTACGAGTGGAAGCT 0.557000 52 107 0 0 1 0 0 CCDC160 347475 broad.mit.edu 37 X 133378999 133378999 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:133378999G>A ENST00000517294.1 + 3 552 c.169G>A c.(169-171)Gaa>Aaa p.E57K CCDC160_ENST00000370809.4_Missense_Mutation_p.E57K A6NGH7 CC160_HUMAN coiled-coil domain containing 160 57 endometrium(1)|kidney(2)|large_intestine(10)|lung(2)|prostate(1)|skin(1) 17 AAAGTTTCAGGAAGAAAGTAA 0.313000 11 9 0 0 1 0 0 PDIA5 10954 broad.mit.edu 37 3 122808107 122808107 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:122808107C>T ENST00000316218.7 + 2 230 c.135C>T c.(133-135)acC>acT p.T45T NM_006810.3 NP_006801.1 Q14554 PDIA5_HUMAN protein disulfide isomerase family A, member 5 45 cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress endoplasmic reticulum lumen electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2) 21 GBM - Glioblastoma multiforme(114;0.0427) TGCTCAGAACCCGGAATAATG 0.527000 40 74 0 0 1 0 0 PALLD 23022 broad.mit.edu 37 4 169632828 169632828 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr4:169632828C>T ENST00000335742.7 + 10 1929 c.572C>T c.(571-573)tCc>tTc p.S191F PALLD_ENST00000512127.1_Missense_Mutation_p.S191F|PALLD_ENST00000505667.1_Missense_Mutation_p.S573F|PALLD_ENST00000261509.6_Missense_Mutation_p.S573F Q8WX93 PALLD_HUMAN palladin, cytoskeletal associated protein 573 cytoskeleton organization actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere actin binding|muscle alpha-actinin binding breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4) 48 Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144) GBM - Glioblastoma multiforme(119;0.204) GAGACAAGTTCCTTGGAGTTG 0.478000 Pancreatic Cancer, Familial Clustering of 25 28 0 0 1 0 0 DOT1L 84444 broad.mit.edu 37 19 2216629 2216629 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:2216629C>T ENST00000398665.3 + 20 2309 c.2273C>T c.(2272-2274)cCg>cTg p.P758L NM_032482.2 NP_115871.1 Q8TEK3 DOT1L_HUMAN DOT1-like histone H3K79 methyltransferase 758 nucleus DNA binding|histone-lysine N-methyltransferase activity|protein binding NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9) 42 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GTCGGCCGGCCGCGCCTGGAG 0.677000 27 21 0 0 1 0 0 SLITRK4 139065 broad.mit.edu 37 X 142718348 142718348 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:142718348G>A ENST00000381779.4 - 2 802 c.577C>T c.(577-579)Ctc>Ttc p.L193F SLITRK4_ENST00000338017.4_Missense_Mutation_p.L193F|SLITRK4_ENST00000356928.1_Missense_Mutation_p.L193F NM_001184749.1|NM_001184750.1|NM_173078.3 NP_001171678.1|NP_001171679.1|NP_775101.1 Q8IW52 SLIK4_HUMAN SLIT and NTRK-like family, member 4 193 integral to membrane autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 60 Acute lymphoblastic leukemia(192;6.56e-05) ATATAAGGGAGCTTCTGGATT 0.418000 47 71 0 0 1 0 0 PTCHD4 442213 broad.mit.edu 37 6 47846284 47846284 + Missense_Mutation SNP A A G TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr6:47846284A>G ENST00000339488.4 - 3 2329 c.2296T>C c.(2296-2298)Ttt>Ctt p.F766L NM_001013732.3 NP_001013754.3 Q6ZW05 CF138_HUMAN patched domain containing 4 766 integral to membrane hedgehog receptor activity CCAATAAGAAAAGAAGTAACA 0.443000 14 12 0 0 1 0 0 SLC35G3 146861 broad.mit.edu 37 17 33520508 33520508 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:33520508C>T ENST00000297307.5 - 1 904 c.819G>A c.(817-819)gcG>gcA p.A273A NM_152462.2 NP_689675.1 Q8N808 AMAC1_HUMAN solute carrier family 35, member G3 273 DUF6 2. integral to membrane CCTTGGTGACCGCATAGCCCA 0.592000 52 103 0 0 1 0 0 TDRD1 56165 broad.mit.edu 37 10 115973130 115973130 + Nonsense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:115973130G>A ENST00000251864.2 + 15 2010 c.1857G>A c.(1855-1857)tgG>tgA p.W619* TDRD1_ENST00000369280.1_Nonsense_Mutation_p.W619*|TDRD1_ENST00000369281.2_Nonsense_Mutation_p.W562*|TDRD1_ENST00000422662.1_Nonsense_Mutation_p.W223*|TDRD1_ENST00000369282.1_Nonsense_Mutation_p.W619* NM_198795.1 NP_942090.1 Q9BXT4 TDRD1_HUMAN tudor domain containing 1 619 DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body nucleic acid binding|protein binding|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5) 48 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0343)|all cancers(201;0.0754) TAGGAATTTGGACTCCAGAAG 0.353000 27 52 0 0 1 0 0 KLHL10 317719 broad.mit.edu 37 17 39994346 39994346 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:39994346G>A ENST00000293303.4 + 1 315 c.162G>A c.(160-162)aaG>aaA p.K54K KLHL10_ENST00000485613.1_Intron NM_152467.3 NP_689680.2 Q6JEL2 KLH10_HUMAN kelch-like family member 10 54 BTB. cytoplasm breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 26 Breast(137;0.000162) GTGCCCATAAGAACATCCTCT 0.468000 25 41 0 0 1 0 0 NBAS 51594 broad.mit.edu 37 2 15555680 15555680 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:15555680G>A ENST00000281513.5 - 25 2952 c.2927C>T c.(2926-2928)tCc>tTc p.S976F NBAS_ENST00000441750.1_Intron NM_015909.3 NP_056993.2 A2RRP1 NBAS_HUMAN neuroblastoma amplified sequence 976 NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3) 112 ATCTGGTTTGGAATGCTGAAA 0.343000 19 41 0 0 1 0 0 FARP1 10160 broad.mit.edu 37 13 99043110 99043110 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr13:99043110G>A ENST00000376586.2 + 11 1400 c.1064G>A c.(1063-1065)gGa>gAa p.G355E FARP1_ENST00000319562.6_Missense_Mutation_p.G355E|FARP1_ENST00000595437.1_Missense_Mutation_p.G355E Q9Y4F1 FARP1_HUMAN FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) 355 regulation of Rho protein signal transduction cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1) 49 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.233) AAAGAAGGAGGACATAAGAAG 0.443000 34 50 0 0 1 0 0 DOK5 55816 broad.mit.edu 37 20 53208341 53208341 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr20:53208341G>A ENST00000262593.5 + 5 946 c.596G>A c.(595-597)gGg>gAg p.G199E DOK5_ENST00000395939.1_Missense_Mutation_p.G91E NM_018431.3 NP_060901.2 Q9P104 DOK5_HUMAN docking protein 5 199 IRS-type PTB. insulin receptor binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1) 19 Colorectal(105;0.202) TTTGAGGCAGGGAGGTGAGTT 0.458000 15 42 0 0 1 0 0 UBBP4 23666 broad.mit.edu 37 17 21731267 21731267 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:21731267C>T ENST00000584755.1 + 2 966 c.569C>T c.(568-570)cCg>cTg p.P190L UBBP4_ENST00000578713.1_Intron|UBBP4_ENST00000583708.1_3'UTR p.P190R(1) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GGCATCCCCCCGATCAGCAGA 0.547000 23 41 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141243018 141243018 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:141243018C>T ENST00000389484.3 - 59 10290 c.9319G>A c.(9319-9321)Gaa>Aaa p.E3107K NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 3107 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding 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) ATTCTTTTTTCTGTGTCAGAC 0.393000 TSP Lung(27;0.18) 18 41 0 0 1 0 0 A2M 2 broad.mit.edu 37 12 9246163 9246163 + Missense_Mutation SNP A A T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:9246163A>T ENST00000318602.7 - 18 2445 c.2138T>A c.(2137-2139)aTg>aAg p.M713K NM_000014.4 NP_000005.2 P01023 A2MG_HUMAN alpha-2-macroglobulin 713 Bait region. 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) GCCTCTTCCCATTACATCTGA 0.433000 8 10 0 0 1 0 0 RAI1 10743 broad.mit.edu 37 17 17701185 17701185 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:17701185C>T ENST00000353383.1 + 3 5392 c.4923C>T c.(4921-4923)tcC>tcT p.S1641S RAI1_ENST00000261641.6_Intron NM_030665.3 NP_109590.3 Q7Z5J4 RAI1_HUMAN retinoic acid induced 1 1641 Ser-rich. cytoplasm|nucleus zinc ion binding breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7) 48 READ - Rectum adenocarcinoma(1115;0.0276) cctcgttctcctTGGATGCAG 0.647000 22 37 0 0 1 0 0 POU2F1 5451 broad.mit.edu 37 1 167368547 167368547 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:167368547G>A ENST00000367862.5 + 12 1596 c.1361G>A c.(1360-1362)aGt>aAt p.S454N POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000541643.3_Missense_Mutation_p.S442N|POU2F1_ENST00000420254.3_Missense_Mutation_p.S442N|POU2F1_ENST00000429375.2_Missense_Mutation_p.S402N|POU2F1_ENST00000367866.2_Missense_Mutation_p.S465N NM_001198783.1 NP_001185712.1 P14859 PO2F1_HUMAN POU class 2 homeobox 1 442 negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 30 CCACCAAGCAGTGGTGGGACC 0.433000 48 51 0 0 1 0 0 ARMC7 79637 broad.mit.edu 37 17 73125084 73125084 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:73125084C>T ENST00000245543.1 + 3 850 c.548C>T c.(547-549)tCt>tTt p.S183F ARMC7_ENST00000581078.1_3'UTR|ARMC7_ENST00000579096.1_3'UTR NM_024585.2 NP_078861.1 Q9H6L4 ARMC7_HUMAN armadillo repeat containing 7 183 binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|pancreas(3) 9 all_lung(278;0.14)|Lung NSC(278;0.168) LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235) CAGGCGCACTCTGCCCTGGGT 0.697000 21 13 0 0 1 0 0 PPP6R3 55291 broad.mit.edu 37 11 68367938 68367938 + Missense_Mutation SNP T T A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:68367938T>A ENST00000393799.2 + 20 2435 c.2168T>A c.(2167-2169)tTt>tAt p.F723Y PPP6R3_ENST00000524845.1_Missense_Mutation_p.F694Y|PPP6R3_ENST00000393801.3_Missense_Mutation_p.F723Y|PPP6R3_ENST00000265636.5_Missense_Mutation_p.F643Y|PPP6R3_ENST00000265637.4_Missense_Mutation_p.F677Y|PPP6R3_ENST00000393800.2_Missense_Mutation_p.F723Y|PPP6R3_ENST00000534534.1_Missense_Mutation_p.F491Y|PPP6R3_ENST00000529710.1_Missense_Mutation_p.F643Y|PPP6R3_ENST00000527403.2_Missense_Mutation_p.F688Y|PPP6R3_ENST00000524904.1_Missense_Mutation_p.F717Y Q5H9R7 PP6R3_HUMAN protein phosphatase 6, regulatory subunit 3 723 regulation of phosphoprotein phosphatase activity cytoplasm|nucleus protein phosphatase binding breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 TGGGCTTCTTTTTCAGAGTTC 0.537000 17 31 0 0 1 0 0 SIX3 6496 broad.mit.edu 37 2 45169576 45169576 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:45169576C>T ENST00000260653.3 + 1 675 c.333C>T c.(331-333)ttC>ttT p.F111F NM_005413.3 NP_005404.1 O95343 SIX3_HUMAN SIX homeobox 3 111 visual perception nucleus haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|skin(1) 11 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) TGGGCCGCTTCCTCTGGTCGC 0.692000 10 21 0 0 1 0 0 PHF13 148479 broad.mit.edu 37 1 6680239 6680239 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:6680239C>T ENST00000377648.4 + 3 900 c.518C>T c.(517-519)tCc>tTc p.S173F PHF13_ENST00000495385.1_Intron NM_153812.2 NP_722519.2 Q86YI8 PHF13_HUMAN PHD finger protein 13 173 cell division|chromatin modification|mitotic chromosome condensation nucleoplasm chromatin binding|methylated histone residue binding|zinc ion binding endometrium(3)|large_intestine(1)|lung(3) 7 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642) GGCTGGGACTCCGATACTCCC 0.587000 11 23 0 0 1 0 0 EGFLAM 133584 broad.mit.edu 37 5 38370429 38370429 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:38370429C>T ENST00000322350.5 + 6 923 c.577C>T c.(577-579)Cat>Tat p.H193Y EGFLAM_ENST00000354891.3_Missense_Mutation_p.H193Y NM_152403.3 NP_689616.2 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G domains 193 Fibronectin type-III 2. cell junction|proteinaceous extracellular matrix|synapse NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 85 all_lung(31;0.000385) GACCTCAATCCATGAGCGGAT 0.493000 20 31 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168100278 168100278 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:168100278C>T ENST00000409195.1 + 9 2465 c.2376C>T c.(2374-2376)gtC>gtT p.V792V XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Silent_p.V792V|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Silent_p.V570V|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 617 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 TTAAAGTTGTCCGAGGAATAT 0.408000 24 47 0 0 1 0 0 ZMIZ1 57178 broad.mit.edu 37 10 81049555 81049555 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:81049555C>T ENST00000334512.5 + 9 1021 c.449C>T c.(448-450)tCt>tTt p.S150F ZMIZ1_ENST00000478357.1_3'UTR NM_020338.3 NP_065071.1 Q9ULJ6 ZMIZ1_HUMAN zinc finger, MIZ-type containing 1 150 transcription, DNA-dependent cytoplasm|nuclear speck zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1) 30 all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985) Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229) CCCTATGACTCTGTCCCTTGG 0.602000 30 61 0 0 1 0 0 FABP1 2168 broad.mit.edu 37 2 88425817 88425817 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:88425817C>T ENST00000393750.3 - 2 149 c.118G>A c.(118-120)Gaa>Aaa p.E40K FABP1_ENST00000495375.1_5'UTR|FABP1_ENST00000295834.3_Missense_Mutation_p.E40K P07148 FABPL_HUMAN fatty acid binding protein 1, liver 40 organ morphogenesis kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1) 6 TGCACGATTTCCGACACCCCC 0.527000 86 159 0 0 1 0 0 FRMPD3 84443 broad.mit.edu 37 X 106808122 106808122 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:106808122G>A ENST00000276185.4 + 13 1221 c.1221G>A c.(1219-1221)gaG>gaA p.E407E Q5JV73 FRPD3_HUMAN FERM and PDZ domain containing 3 407 FERM. cytoskeleton breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1) 28 ACCAGGATGAGAAGCAGTCGG 0.557000 93 114 0 0 1 0 0 MT1X 4501 broad.mit.edu 37 16 56717159 56717159 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr16:56717159C>T ENST00000562939.1 + 2 182 c.111C>T c.(109-111)ttC>ttT p.F37F RP11-343H19.2_ENST00000567563.1_RNA|MT1X_ENST00000394485.4_Intron P80297 MT1X_HUMAN metallothionein 1X 37 Alpha. response to metal ion metal ion binding kidney(2) 2 GCAGGGCCTTCCCTGCGAATC 0.572000 29 22 0 0 1 0 0 DACT1 51339 broad.mit.edu 37 14 59113391 59113391 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr14:59113391G>A ENST00000395153.3 + 4 2086 c.1939G>A c.(1939-1941)Gag>Aag p.E647K DACT1_ENST00000395151.3_Missense_Mutation_p.E403K|DACT1_ENST00000556859.1_Missense_Mutation_p.E403K|DACT1_ENST00000541264.2_Missense_Mutation_p.E403K|DACT1_ENST00000335867.4_Missense_Mutation_p.E684K NM_001079520.1|NM_016651.5 NP_001072988.1|NP_057735.2 Q9NYF0 DACT1_HUMAN dishevelled-binding antagonist of beta-catenin 1 684 multicellular organismal development|Wnt receptor signaling pathway cytoplasm|nucleus endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 53 GTCCTCGGCCGAGATTTCCTA 0.692000 12 23 0 0 1 0 0 ZNF347 84671 broad.mit.edu 37 19 53643936 53643936 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:53643936C>T ENST00000452676.2 - 5 2574 c.2148G>A c.(2146-2148)ggG>ggA p.G716G ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Silent_p.G716G|ZNF347_ENST00000334197.7_Silent_p.G715G NM_001172674.1 NP_001166145.1 Q96SE7 ZN347_HUMAN zinc finger protein 347 715 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1) 23 GBM - Glioblastoma multiforme(134;0.0179) TAAAGGCTTTCCCACACTGAT 0.423000 47 87 0 0 1 0 0 HPS5 11234 broad.mit.edu 37 11 18327005 18327005 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:18327005G>A ENST00000396253.3 - 7 980 c.518C>T c.(517-519)tCc>tTc p.S173F HPS5_ENST00000438420.2_Missense_Mutation_p.S173F|HPS5_ENST00000349215.3_Missense_Mutation_p.S287F|HPS5_ENST00000531848.1_Missense_Mutation_p.S173F NM_007216.3 NP_009147.3 Q9UPZ3 HPS5_HUMAN Hermansky-Pudlak syndrome 5 287 cytosol breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 CAAAGACTGGGAGGATCCAGC 0.338000 Hermansky-Pudlak syndrome 18 39 0 0 1 0 0 UTRN 7402 broad.mit.edu 37 6 145093100 145093100 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr6:145093100C>T ENST00000367545.3 + 58 8553 c.8553C>T c.(8551-8553)tcC>tcT p.S2851S UTRN_ENST00000367526.4_Silent_p.S406S NM_007124.2 NP_009055.2 P46939 UTRO_HUMAN utrophin 2851 Interaction with SYNM. muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 148 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) TCTTTCAATCCCTTGGTAAGT 0.274000 5 54 0 0 1 0 0 IL6ST 3572 broad.mit.edu 37 5 55253116 55253116 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:55253116G>A ENST00000381298.2 - 9 1289 c.977C>T c.(976-978)cCa>cTa p.P326L IL6ST_ENST00000336909.5_Missense_Mutation_p.P326L|IL6ST_ENST00000381287.4_Intron|IL6ST_ENST00000522633.2_Intron|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000502326.3_Missense_Mutation_p.P326L|IL6ST_ENST00000381294.3_Missense_Mutation_p.P326L|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000536319.1_Intron NM_001190981.1|NM_002184.3|NM_175767.2 NP_001177910.1|NP_002175.2|NP_786943.1 P40189 IL6RB_HUMAN interleukin 6 signal transducer (gp130, oncostatin M receptor) 326 Fibronectin type-III 3. interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223) TGCTTTAGATGGTCCTAAAGA 0.303000 O hepatocellular ca 29 50 0 0 1 0 0 OSBPL3 26031 broad.mit.edu 37 7 24902874 24902874 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:24902874G>A ENST00000313367.2 - 9 1266 c.815C>T c.(814-816)tCg>tTg p.S272L OSBPL3_ENST00000396429.1_Missense_Mutation_p.S272L|OSBPL3_ENST00000352860.1_Intron|OSBPL3_ENST00000353930.1_Missense_Mutation_p.S272L|OSBPL3_ENST00000396431.1_Intron|OSBPL3_ENST00000409069.1_Intron|OSBPL3_ENST00000431825.2_Intron NM_015550.2 NP_056365.1 Q9H4L5 OSBL3_HUMAN oxysterol binding protein-like 3 272 lipid transport lipid binding|protein binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1) 43 CCTCCTGTGCGATCTTTTTTC 0.458000 36 48 0 0 1 0 0 SYCP1 6847 broad.mit.edu 37 1 115430287 115430287 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:115430287G>A ENST00000369522.3 + 15 1471 c.1231G>A c.(1231-1233)Gag>Aag p.E411K SYCP1_ENST00000369518.1_Missense_Mutation_p.E411K NM_003176.2 NP_003167.2 Q15431 SYCP1_HUMAN synaptonemal complex protein 1 411 cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly DNA binding RGS22/SYCP1(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 Lung SC(450;0.211) all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) ACTTACCATGGAGCTTCAAAA 0.249000 7 37 0 0 1 0 0 NONO 4841 broad.mit.edu 37 X 70514363 70514363 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:70514363C>T ENST00000535149.1 + 3 1011 c.368C>T c.(367-369)tCc>tTc p.S123F NONO_ENST00000276079.8_Missense_Mutation_p.S212F|NONO_ENST00000490044.1_3'UTR|NONO_ENST00000373856.3_Missense_Mutation_p.S212F|NONO_ENST00000373841.1_Missense_Mutation_p.S212F NM_001145410.1 NP_001138882.1 Q15233 NONO_HUMAN non-POU domain containing, octamer-binding 212 DBHS.|RRM 1. DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent nuclear matrix|paraspeckles DNA binding|identical protein binding|nucleotide binding|RNA binding NONO/TFE3(2) endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 19 Renal(35;0.156) AGTGAAGGCTCCTTCCTGCTA 0.488000 T TFE3 papillary renal cancer 12 13 0 0 1 0 0 LRP5 4041 broad.mit.edu 37 11 68115391 68115391 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:68115391C>T ENST00000294304.7 + 2 274 c.168C>T c.(166-168)acC>acT p.T56T NM_002335.2 NP_002326.2 O75197 LRP5_HUMAN low density lipoprotein receptor-related protein 5 56 Beta-propeller 1. adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex protein binding|receptor activity autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 TGGAGTCCACCATCGTGGTCA 0.637000 28 43 0 0 1 0 0 RPL3 6122 broad.mit.edu 37 22 39711393 39711393 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr22:39711393G>A ENST00000216146.4 - 5 842 c.669C>T c.(667-669)acC>acT p.T223T RPL3_ENST00000465618.1_5'UTR|RPL3_ENST00000401609.1_Silent_p.T171T NM_000967.3|NM_001033853.1 NP_000958.1|NP_001029025.1 P39023 RL3_HUMAN ribosomal protein L3 223 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|nucleolus protein binding|RNA binding|structural constituent of ribosome breast(1)|kidney(4)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 Melanoma(58;0.04) CTTTGCCCTTGGTCACCCCGA 0.577000 71 77 0 0 1 0 0 DPEP1 1800 broad.mit.edu 37 16 89702965 89702965 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr16:89702965G>A ENST00000393092.3 + 5 686 c.395G>A c.(394-396)gGg>gAg p.G132E DPEP1_ENST00000261615.4_Missense_Mutation_p.G132E|DPEP1_ENST00000421184.1_Missense_Mutation_p.G132E NM_004413.3 NP_004404.1 P16444 DPEP1_HUMAN dipeptidase 1 (renal) 132 proteolysis anchored to membrane|apical plasma membrane|microvillus membrane dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1) 14 all_lung(18;0.0054)|all_hematologic(23;0.094) BRCA - Breast invasive adenocarcinoma(80;0.0258) Cilastatin(DB01597) TTCCGGGAAGGGAAGGTGGCC 0.662000 26 30 0 0 1 0 0 NPAS1 4861 broad.mit.edu 37 19 47539225 47539225 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:47539225G>A ENST00000602212.1 + 6 746 c.526G>A c.(526-528)Gag>Aag p.E176K NPAS1_ENST00000602189.1_5'UTR|NPAS1_ENST00000449844.2_Missense_Mutation_p.E176K|NPAS1_ENST00000439365.2_5'UTR Q99742 NPAS1_HUMAN neuronal PAS domain protein 1 176 PAS 1. central nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity endometrium(2)|kidney(1)|large_intestine(2)|lung(1) 6 all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102) all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252) CCGGCAGGTGGAGATGACGGG 0.682000 OREG0025586 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 3 7 0 0 1 0 0 ARHGAP4 393 broad.mit.edu 37 X 153184378 153184378 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:153184378G>A ENST00000370028.3 - 8 1117 c.1060C>T c.(1060-1062)Cct>Tct p.P354S ARHGAP4_ENST00000537206.1_Missense_Mutation_p.P291S|ARHGAP4_ENST00000393721.1_Intron|ARHGAP4_ENST00000350060.5_Missense_Mutation_p.P314S|ARHGAP4_ENST00000370016.1_Missense_Mutation_p.P293S NM_001164741.1 NP_001158213.1 P98171 RHG04_HUMAN Rho GTPase activating protein 4 314 apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction cytosol|focal adhesion|nucleus Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 14 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TCCCCTGGAGGATCCAGGGCC 0.647000 63 79 0 0 1 0 0 KIRREL2 84063 broad.mit.edu 37 19 36351847 36351847 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:36351847C>T ENST00000360202.5 + 8 1163 c.965C>T c.(964-966)tCc>tTc p.S322F KIRREL2_ENST00000347900.6_Missense_Mutation_p.S272F|KIRREL2_ENST00000586102.2_Missense_Mutation_p.S302F|KIRREL2_ENST00000262625.7_Missense_Mutation_p.S322F|KIRREL2_ENST00000592409.1_Missense_Mutation_p.S322F|NPHS1_ENST00000591817.1_Intron NM_032123.5|NM_199180.2 NP_115499.4|NP_954649.2 Q6UWL6 KIRR2_HUMAN kin of IRRE like 2 (Drosophila) 322 Ig-like C2-type 4. cell adhesion integral to membrane|plasma membrane breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 48 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) GAGCCCGTGTCCGTGGACGTG 0.677000 9 29 0 0 1 0 0 ZNF337 26152 broad.mit.edu 37 20 25655810 25655810 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr20:25655810C>T ENST00000376436.1 - 4 2653 c.2114G>A c.(2113-2115)aGa>aAa p.R705K RP4-694B14.5_ENST00000455791.1_RNA|RP4-694B14.5_ENST00000439498.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA|ZNF337_ENST00000252979.5_Missense_Mutation_p.R705K|ZNF337_ENST00000538750.1_Missense_Mutation_p.R673K zinc finger protein 337 breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 TGTGTGTATTCTTTCATGCAC 0.453000 61 108 0 0 1 0 0 MAGEE1 57692 broad.mit.edu 37 X 75648905 75648905 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:75648905G>A ENST00000361470.2 + 1 860 c.582G>A c.(580-582)gaG>gaA p.E194E NM_020932.2 NP_065983.1 Q9HCI5 MAGE1_HUMAN melanoma antigen family E, 1 194 Pro-rich. dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1) 51 CCCCTGATGAGGGACCAAGCA 0.697000 6 24 0 0 1 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971096 21971096 + Missense_Mutation SNP C C T rs121913384 TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr9:21971096C>T ENST00000579755.1 - 2 597 c.305G>A c.(304-306)gGa>gAa p.G102E CDKN2A_ENST00000579122.1_Missense_Mutation_p.E88K|CDKN2A_ENST00000479692.2_Missense_Mutation_p.E37K|CDKN2A_ENST00000498124.1_Missense_Mutation_p.E88K|CDKN2A_ENST00000497750.1_Missense_Mutation_p.E37K|CDKN2A_ENST00000494262.1_Missense_Mutation_p.E37K|CDKN2A_ENST00000578845.2_Missense_Mutation_p.E37K|CDKN2A_ENST00000530628.2_Missense_Mutation_p.G102E|CDKN2A_ENST00000361570.3_Missense_Mutation_p.G143E|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000304494.5_Missense_Mutation_p.E88K|CDKN2A_ENST00000498628.2_Missense_Mutation_p.E37K|CDKN2A_ENST00000446177.1_Missense_Mutation_p.E88K P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 0 A -> E (in LFS; somatic mutation).|A -> T (in dbSNP:rs35741010). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(44)|p.E88*(15)|p.E88K(3)|p.H83fs*2(2)|p.D84_F90del(1)|p.0(1)|p.V82_G89>G(1)|p.E61_L94del(1)|p.G143V(1)|p.R137fs*48(1)|p.A68fs*3(1)|p.V82_E88del(1)|p.E87K(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) AGGAAGCCCTCCCGGGCAGCG 0.756000 E88*(CAL33_UPPER_AERODIGESTIVE_TRACT) 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 12 4 0 0 1 0 0 URB2 9816 broad.mit.edu 37 1 229772433 229772433 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:229772433C>T ENST00000258243.2 + 4 2209 c.2073C>T c.(2071-2073)ttC>ttT p.F691F NM_014777.2 NP_055592.2 Q14146 URB2_HUMAN URB2 ribosome biogenesis 2 homolog (S. cerevisiae) 691 nucleolus breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6) 73 AAACTAGTTTCCGGTCTGAAG 0.438000 113 38 0 0 1 0 0 GBP6 163351 broad.mit.edu 37 1 89845978 89845978 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:89845978C>T ENST00000370456.4 + 6 752 c.659C>T c.(658-660)cCc>cTc p.P220L GBP6_ENST00000535065.1_Missense_Mutation_p.P90L NM_198460.2 NP_940862.2 Q6ZN66 GBP6_HUMAN guanylate binding protein family, member 6 220 GTP binding|GTPase activity p.P220L(1) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 42 Lung NSC(277;0.0908) all cancers(265;0.0108)|Epithelial(280;0.0398) TCCAATTTTCCCAGGGAGTGC 0.403000 15 34 0 0 1 0 0 DNAH11 8701 broad.mit.edu 37 7 21698455 21698455 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:21698455G>A ENST00000328843.6 + 30 5180 c.5149G>A c.(5149-5151)Gaa>Aaa p.E1717K DNAH11_ENST00000409508.3_Missense_Mutation_p.E1712K Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 1717 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 GACTATGCAAGAAACGGTGCG 0.423000 Kartagener syndrome 10 8 0 0 1 0 0 IDS 3423 broad.mit.edu 37 X 148568458 148568458 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:148568458G>A ENST00000340855.6 - 8 1387 c.1178C>T c.(1177-1179)cCa>cTa p.P393L IDS_ENST00000541269.1_Missense_Mutation_p.P182L|IDS_ENST00000537071.1_Intron|AF011889.5_ENST00000422081.1_RNA NM_000202.5|NM_001166550.1 NP_000193.1|NP_001160022.1 P22304 IDS_HUMAN iduronate 2-sulfatase 393 lysosome iduronate-2-sulfatase activity|metal ion binding NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1) 20 Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662) TTTTATACCTGGCTCCATCAA 0.433000 29 40 0 0 1 0 0 VWF 7450 broad.mit.edu 37 12 6167114 6167114 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:6167114G>A ENST00000261405.5 - 14 1884 c.1630C>T c.(1630-1632)Ccc>Tcc p.P544S NM_000552.3 NP_000543.2 P04275 VWF_HUMAN von Willebrand factor 544 VWFD 2. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) TCCACCCGGGGCTCCGCCAGC 0.662000 24 67 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126370528 126370528 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr4:126370528C>T ENST00000394329.3 + 9 8370 c.8357C>T c.(8356-8358)cCc>cTc p.P2786L FAT4_ENST00000335110.5_Missense_Mutation_p.P1084L NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 2786 Cadherin 27. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 GAAAATTCCCCCTTAGGATAC 0.363000 63 68 0 0 1 0 0 ZNF747 65988 broad.mit.edu 37 16 30544332 30544332 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr16:30544332G>A ENST00000569360.1 - 3 653 c.481C>T c.(481-483)Cgg>Tgg p.R161W ZNF747_ENST00000568028.1_Missense_Mutation_p.R161W|ZNF747_ENST00000395094.3_3'UTR|ZNF747_ENST00000252799.3_3'UTR|ZNF747_ENST00000535210.1_Missense_Mutation_p.R161W Q9BV97 ZN747_HUMAN zinc finger protein 747 0 regulation of transcription, DNA-dependent intracellular nucleic acid binding kidney(1)|lung(3)|prostate(1) 5 CTCCGGCGCCGGGCCTTGGAC 0.711000 25 21 0 0 1 0 0 NOX3 50508 broad.mit.edu 37 6 155750157 155750157 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr6:155750157G>A ENST00000159060.2 - 9 1018 c.916C>T c.(916-918)Ctg>Ttg p.L306L NM_015718.2 NP_056533.1 Q9HBY0 NOX3_HUMAN NADPH oxidase 3 306 FAD-binding FR-type. 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) TGAAGTTCCAGGACTCCAGAG 0.488000 39 30 0 0 1 0 0 SERPINB12 89777 broad.mit.edu 37 18 61233999 61233999 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr18:61233999G>A ENST00000382768.1 + 7 1033 c.1033G>A c.(1033-1035)Gaa>Aaa p.E345K SERPINB12_ENST00000269491.1_Missense_Mutation_p.E325K Q96P63 SPB12_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 12 325 negative regulation of protein catabolic process|regulation of proteolysis cytoplasm enzyme binding|serine-type endopeptidase inhibitor activity kidney(1)|large_intestine(5)|lung(19)|skin(1) 26 TATCTTTGATGAAACGAGGGC 0.443000 75 110 0 0 1 0 0 DDX6 1656 broad.mit.edu 37 11 118656871 118656871 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:118656871G>A ENST00000264018.4 - 2 395 c.90C>T c.(88-90)ggC>ggT p.G30G DDX6_ENST00000534980.1_Silent_p.G30G|DDX6_ENST00000526070.2_Silent_p.G30G NM_004397.4 NP_004388.2 P26196 DDX6_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 6 30 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1) 13 all_hematologic(175;0.0839) Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103) OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377) CTCCTCCAGGGCCACCAGTGG 0.502000 T IGH@ B-NHL 32 56 0 0 1 0 0 CFB 629 broad.mit.edu 37 6 31917212 31917212 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr6:31917212G>A ENST00000456570.1 + 22 2847 c.2792G>A c.(2791-2793)gGg>gAg p.G931E CFB_ENST00000477310.1_Missense_Mutation_p.G780E|CFB_ENST00000556679.1_Missense_Mutation_p.G931E|CFB_ENST00000497841.1_3'UTR|CFB_ENST00000425368.2_Missense_Mutation_p.G429E P00751 CFAB_HUMAN complement factor B 429 complement activation, alternative pathway|proteolysis extracellular region|plasma membrane complement binding|serine-type endopeptidase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1) 21 TATGTGTTTGGGGTCGGGCCT 0.478000 23 17 0 0 1 0 0 SLC27A1 376497 broad.mit.edu 37 19 17611616 17611616 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:17611616G>A ENST00000252595.7 + 10 1664 c.1567G>A c.(1567-1569)Gag>Aag p.E523K SLC27A1_ENST00000598424.1_Missense_Mutation_p.E344K|CTD-3131K8.2_ENST00000596643.1_lincRNA|SLC27A1_ENST00000598848.1_Intron|SLC27A1_ENST00000442725.1_Missense_Mutation_p.E523K NM_198580.1 NP_940982.1 Q6PCB7 S27A1_HUMAN solute carrier family 27 (fatty acid transporter), member 1 523 cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport endomembrane system|integral to membrane fatty acid transporter activity|nucleotide binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 CTCCACCACCGAGGTGGAGGG 0.657000 12 32 0 0 1 0 0 TPBG 7162 broad.mit.edu 37 6 83075788 83075788 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr6:83075788C>T ENST00000369750.3 + 2 1727 c.1110C>T c.(1108-1110)ttC>ttT p.F370F TPBG_ENST00000535040.1_Silent_p.F370F|TPBG_ENST00000543496.1_Silent_p.F370F Q13641 TPBG_HUMAN trophoblast glycoprotein 370 cell adhesion integral to plasma membrane central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1) 15 all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897) BRCA - Breast invasive adenocarcinoma(397;0.107) GCGCTATTTTCCTCCTGGTTT 0.463000 31 27 0 0 1 0 0 VCX3B 425054 broad.mit.edu 37 X 8434194 8434194 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:8434194G>A ENST00000381032.1 + 3 818 c.511G>A c.(511-513)Gaa>Aaa p.E171K VCX3B_ENST00000381029.4_Missense_Mutation_p.E139K|VCX3B_ENST00000444481.1_Missense_Mutation_p.E141K|VCX3B_ENST00000453306.1_Missense_Mutation_p.E171K|VCX3B_ENST00000440654.2_Missense_Mutation_p.E121K NM_001001888.3 NP_001001888.3 Q9H321 VCX3B_HUMAN variable charge, X-linked 3B 171 11 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P. nucleolus NS(1)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|urinary_tract(3) 11 GAGCGAGGTGGAAGAACCACT 0.587000 36 315 0 0 1 0 0 ZFYVE20 64145 broad.mit.edu 37 3 15115502 15115502 + Silent SNP G G T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:15115502G>T ENST00000253699.3 - 14 2755 c.2142C>A c.(2140-2142)ccC>ccA p.P714P ZFYVE20_ENST00000476527.2_Silent_p.P714P NM_022340.2 NP_071735.2 Q9H1K0 RBNS5_HUMAN zinc finger, FYVE domain containing 20 714 Necessary for the interaction with EHD1.|Necessary for the interaction with RAB5A. blood coagulation|endosome transport|protein transport early endosome membrane|plasma membrane protein binding|zinc ion binding NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2) 26 TGATACAGGTGGGTTCCTCAA 0.562000 38 70 1.66425e-11 1.68238e-11 1 1 0 C1QTNF9B 387911 broad.mit.edu 37 13 24466137 24466137 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr13:24466137C>T ENST00000382137.3 - 3 361 c.293G>A c.(292-294)gGa>gAa p.G98E C1QTNF9B-AS1_ENST00000417034.1_RNA|C1QTNF9B_ENST00000382145.1_Intron|C1QTNF9B-AS1_ENST00000435039.2_RNA|C1QTNF9B_ENST00000382057.3_Intron|C1QTNF9B_ENST00000382140.2_Missense_Mutation_p.G98E|C1QTNF9B_ENST00000556521.1_Intron|C1QTNF9B-AS1_ENST00000382133.4_RNA NM_001007537.1 NP_001007538.1 B2RNN3 C1T9B_HUMAN C1q and tumor necrosis factor related protein 9B 98 Collagen-like 2. collagen breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1) 6 GCCATGTTTTCCTGGGGATCC 0.517000 26 87 0 0 1 0 0 FCGBP 8857 broad.mit.edu 37 19 40398045 40398045 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:40398045G>A ENST00000221347.6 - 14 6929 c.6922C>T c.(6922-6924)Cct>Tct p.P2308S NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 2308 extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) GCCACTGCAGGACAGAGGCCT 0.692000 20 58 0 0 1 0 0 SYNE2 23224 broad.mit.edu 37 14 64421611 64421611 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr14:64421611C>T ENST00000358025.3 + 8 995 c.765C>T c.(763-765)atC>atT p.I255I SYNE2_ENST00000356081.3_Silent_p.I255I|SYNE2_ENST00000344113.4_Silent_p.I255I|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Silent_p.I255I|SYNE2_ENST00000341472.5_Silent_p.I255I NM_182914.2 NP_878918.2 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 255 Actin-binding.|CH 2. centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) AATTAAAAATCCCCAGATTGC 0.368000 21 33 0 0 1 0 0 MCTP1 79772 broad.mit.edu 37 5 94204083 94204083 + Silent SNP A A G TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:94204083A>G ENST00000515393.1 - 17 2390 c.2391T>C c.(2389-2391)agT>agC p.S797S MCTP1_ENST00000505078.1_Silent_p.S313S|MCTP1_ENST00000429576.2_Silent_p.S530S|MCTP1_ENST00000312216.8_Silent_p.S576S|MCTP1_ENST00000505208.1_Silent_p.S576S NM_024717.4 NP_078993.4 Q6DN14 MCTP1_HUMAN multiple C2 domains, transmembrane 1 797 calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1) 41 all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207) all cancers(79;9.1e-17) AATCAAAGCAACTATTAACGT 0.348000 15 13 0 0 1 0 0 CASP3 836 broad.mit.edu 37 4 185552944 185552944 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr4:185552944C>T ENST00000308394.4 - 6 720 c.458G>A c.(457-459)gGa>gAa p.G153E CASP3_ENST00000393588.4_Missense_Mutation_p.G153E|CASP3_ENST00000393585.2_Missense_Mutation_p.G153E|CASP3_ENST00000517513.1_Missense_Mutation_p.G153E|CASP3_ENST00000523916.1_Missense_Mutation_p.G153E NM_004346.3 NP_004337.2 P42574 CASP3_HUMAN caspase 3, apoptosis-related cysteine peptidase 153 activation of caspase activity by cytochrome c|DNA fragmentation involved in apoptotic nuclear change|negative regulation of apoptosis|nerve growth factor receptor signaling pathway|nuclear fragmentation involved in apoptotic nuclear change|proteolysis|response to tumor necrosis factor cytosol|mitochondrion|nucleoplasm|plasma membrane cysteine-type endopeptidase activity|protein binding endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1) 12 all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.057)|all_hematologic(60;0.0592) all cancers(43;2.05e-27)|Epithelial(43;4.27e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.04e-11)|Colorectal(24;2e-05)|STAD - Stomach adenocarcinoma(60;2.35e-05)|GBM - Glioblastoma multiforme(59;4.94e-05)|COAD - Colon adenocarcinoma(29;0.00017)|BRCA - Breast invasive adenocarcinoma(30;0.000218)|LUSC - Lung squamous cell carcinoma(40;0.00904)|READ - Rectum adenocarcinoma(43;0.161) Melatonin(DB01065)|Minocycline(DB01017)|Simvastatin(DB00641) TTTGGGTTTTCCAGTTAGACT 0.353000 16 39 0 0 1 0 0 PCDH9 5101 broad.mit.edu 37 13 67799719 67799719 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr13:67799719G>A ENST00000544246.1 - 2 3545 c.2854C>T c.(2854-2856)Cca>Tca p.P952S PCDH9_ENST00000377865.2_Missense_Mutation_p.P952S|PCDH9_ENST00000456367.1_Missense_Mutation_p.P952S|PCDH9_ENST00000377861.3_Missense_Mutation_p.P952S|PCDH9_ENST00000328454.5_Missense_Mutation_p.P952S NM_203487.2 NP_982354.1 Q9HC56 PCDH9_HUMAN protocadherin 9 952 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 103 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) GGAGTGTCTGGTTTGAGATGA 0.507000 37 71 0 0 1 0 0 UBN2 254048 broad.mit.edu 37 7 138968645 138968645 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:138968645C>T ENST00000288561.8 + 15 2994 c.2745C>T c.(2743-2745)ccC>ccT p.P915P UBN2_ENST00000473989.2_Silent_p.P998P NM_173569.3 NP_775840.3 Q6ZU65 UBN2_HUMAN ubinuclein 2 998 Ser-rich. NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 42 GGTCCCACCCCCTGGTTTCTA 0.493000 30 67 0 0 1 0 0 RERE 473 broad.mit.edu 37 1 8420763 8420763 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:8420763G>A ENST00000337907.3 - 19 3438 c.2804C>T c.(2803-2805)cCc>cTc p.P935L RERE_ENST00000400907.2_Intron|RERE_ENST00000377464.1_Missense_Mutation_p.P667L|RERE_ENST00000400908.2_Missense_Mutation_p.P935L|RERE_ENST00000476556.1_Missense_Mutation_p.P381L NM_012102.3 NP_036234.3 Q9P2R6 RERE_HUMAN arginine-glutamic acid dipeptide (RE) repeats 935 Pro-rich. multicellular organismal development|NLS-bearing substrate import into nucleus mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) CTGGGGGATGGGAGTGGTAGG 0.697000 12 26 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195518076 195518076 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:195518076G>A ENST00000463781.3 - 2 834 c.375C>T c.(373-375)tcC>tcT p.S125S MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Silent_p.S125S NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 130 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) TGGTGACACTGGAGGGAAATG 0.448000 20 35 0 0 1 0 0 USP51 158880 broad.mit.edu 37 X 55515083 55515083 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:55515083G>A ENST00000500968.3 - 2 372 c.290C>T c.(289-291)cCc>cTc p.P97L USP51_ENST00000586165.1_Intron NM_201286.3 NP_958443.1 Q70EK9 UBP51_HUMAN ubiquitin specific peptidase 51 97 Pro-rich. ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 30 CGGGCAAACGGGCGAGGAGCT 0.756000 7 10 0 0 1 0 0 FOSL2 2355 broad.mit.edu 37 2 28627144 28627144 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:28627144C>T ENST00000264716.4 + 2 1136 c.273C>T c.(271-273)gtC>gtT p.V91V FOSL2_ENST00000545753.1_Silent_p.V52V|FOSL2_ENST00000379619.1_Silent_p.V66V|FOSL2_ENST00000460736.1_3'UTR NM_005253.3 NP_005244.1 P15408 FOSL2_HUMAN FOS-like antigen 2 91 cell death|regulation of transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 14 Acute lymphoblastic leukemia(172;0.155) TGGCCTCTGTCCCTGGACACA 0.637000 54 82 0 0 1 0 0 RNF135 84282 broad.mit.edu 37 17 29324271 29324271 + Nonsense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:29324271G>A ENST00000535306.2 + 5 770 c.756G>A c.(754-756)tgG>tgA p.W252* RNF135_ENST00000324689.4_Nonsense_Mutation_p.W176*|RNF135_ENST00000443677.2_Nonsense_Mutation_p.W128*|RNF135_ENST00000328381.5_Missense_Mutation_p.E231K NM_001184992.1 NP_001171921.1 Q8IUD6 RN135_HUMAN ring finger protein 135 0 B30.2/SPRY. innate immune response|negative regulation of type I interferon production|positive regulation of interferon-beta production|regulation of innate immune response cytosol protein binding|ribonucleoprotein binding|ubiquitin-protein ligase activity|zinc ion binding p.?(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1) 10 all_cancers(10;8.65e-08)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Myeloproliferative disorder(56;0.0255) AGAACTCCTGGAAGCCCCGTC 0.483000 34 50 0 0 1 0 0 NPBWR2 2832 broad.mit.edu 37 20 62737767 62737767 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr20:62737767C>T ENST00000369768.1 - 1 757 c.418G>A c.(418-420)Gtg>Atg p.V140M NM_005286.2 NP_005277.2 P48146 NPBW2_HUMAN neuropeptides B/W receptor 2 140 plasma membrane opioid receptor activity|protein binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09) TATCGGTCCACGCTCATCACG 0.647000 16 29 0 0 1 0 0 OPRK1 4986 broad.mit.edu 37 8 54147344 54147344 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:54147344G>A ENST00000265572.3 - 3 882 c.585C>T c.(583-585)gtC>gtT p.V195V RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000520287.1_Silent_p.V195V|OPRK1_ENST00000524278.1_Silent_p.V106V NM_000912.3 NP_000903.2 P41145 OPRK_HUMAN opioid receptor, kappa 1 195 behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication integral to plasma membrane kappa-opioid receptor activity|protein binding NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1) 43 all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136) Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193) TGCCTCCAAGGACTATTGCAG 0.438000 20 67 0 0 1 0 0 ADAM21P1 145241 broad.mit.edu 37 14 70713044 70713044 + RNA SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr14:70713044G>A ENST00000530196.1 - 0 1474 NR_003951.1 AAAAGCACAGGGAGCCCCAGG 0.488000 19 29 0 0 1 0 0 CD74 972 broad.mit.edu 37 5 149782189 149782189 + Splice_Site SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:149782189C>T ENST00000353334.6 - 7 805 c.e7-1 CD74_ENST00000009530.7_Splice_Site|CD74_ENST00000524315.1_Intron|CD74_ENST00000377795.3_Splice_Site NM_001025159.2|NM_004355.3 NP_001020330.1|NP_004346.1 P04233 HG2A_HUMAN CD74 molecule, major histocompatibility complex, class II invariant chain antigen processing and presentation of endogenous antigen|cell proliferation|immunoglobulin mediated immune response|intracellular protein transport|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of peptide secretion|positive regulation of B cell proliferation|positive regulation of chemokine (C-X-C motif) ligand 2 production|positive regulation of cytokine-mediated signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of macrophage cytokine production|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|prostaglandin biosynthetic process|protein complex assembly|regulation of macrophage activation endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|lysosome|receptor complex beta-amyloid binding|cytokine receptor activity|identical protein binding|MHC class II protein binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1) 5 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TCCAGTGACTCTGCAAAGGAG 0.592000 T ROS1 NSCLC 51 71 0 0 1 0 0 LPAR4 2846 broad.mit.edu 37 X 78010777 78010777 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:78010777C>T ENST00000435339.2 + 2 816 c.411C>T c.(409-411)ttC>ttT p.F137F LPAR4_ENST00000373301.2_Silent_p.F137F NM_005296.2 NP_005287.1 Q99677 LPAR4_HUMAN lysophosphatidic acid receptor 4 137 integral to plasma membrane lipid binding|purinergic nucleotide receptor activity, G-protein coupled breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 38 TGGATCGTTTCCTGGCCATTG 0.483000 56 87 0 0 1 0 0 ZNF366 167465 broad.mit.edu 37 5 71739682 71739682 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:71739682G>A ENST00000318442.5 - 5 2626 c.2136C>T c.(2134-2136)ccC>ccT p.P712P NM_152625.1 NP_689838.1 Q8N895 ZN366_HUMAN zinc finger protein 366 712 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 35 Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155) OV - Ovarian serous cystadenocarcinoma(47;2.51e-53) CAGAAAAAGAGGGGCCCCGCC 0.498000 41 85 0 0 1 0 0 OR4C3 256144 broad.mit.edu 37 11 48346832 48346832 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:48346832G>A ENST00000319856.4 + 1 361 c.340G>A c.(340-342)Ggg>Agg p.G114R NM_001004702.1 NP_001004702.1 Q8NH37 OR4C3_HUMAN olfactory receptor, family 4, subfamily C, member 3 87 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 32 ATTGTATGAGGGGAGAACCAT 0.448000 49 226 0 0 1 0 0 HIVEP3 59269 broad.mit.edu 37 1 42046085 42046085 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:42046085G>A ENST00000372584.1 - 3 5398 c.4384C>T c.(4384-4386)Ctt>Ttt p.L1462F HIVEP3_ENST00000429157.2_Missense_Mutation_p.L1462F|HIVEP3_ENST00000372583.1_Missense_Mutation_p.L1462F|HIVEP3_ENST00000247584.5_Missense_Mutation_p.L1462F NM_001127714.2 NP_001121186.1 Q5T1R4 ZEP3_HUMAN human immunodeficiency virus type I enhancer binding protein 3 1462 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 85 Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0367) ACCAGCTCAAGTTTTTCATCT 0.527000 44 48 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179639648 179639648 + Splice_Site SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:179639648C>T ENST00000589042.1 - 29 7014 c.6790_splice c.e29+1 p.G2264_splice TTN_ENST00000342992.6_Splice_Site_p.G2264_splice|TTN_ENST00000591111.1_Splice_Site_p.G2264_splice|TTN_ENST00000359218.5_Splice_Site_p.G2218_splice|TTN_ENST00000360870.5_Splice_Site_p.G2264_splice|TTN_ENST00000342175.6_Splice_Site_p.G2218_splice|TTN_ENST00000460472.2_Splice_Site_p.G2218_splice NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 1988 Ig-like 12. 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) TGTTGAATACCTTCAACAATA 0.358000 23 30 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126240237 126240237 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr4:126240237C>T ENST00000394329.3 + 1 2684 c.2671C>T c.(2671-2673)Ccc>Tcc p.P891S NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 891 Cadherin 8. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 TGACAACTCTCCCCATTTCCT 0.473000 9 26 0 0 1 0 0 SLC7A10 56301 broad.mit.edu 37 19 33702161 33702161 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:33702161C>T ENST00000253188.3 - 7 1132 c.986G>A c.(985-987)gGg>gAg p.G329E NM_019849.2 NP_062823.1 Q9NS82 AAA1_HUMAN solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10 329 blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration integral to plasma membrane L-serine transmembrane transporter activity central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1) 18 Esophageal squamous(110;0.137) ACCATTGATCCCTCCGAAGGT 0.597000 22 45 0 0 1 0 0 DHFRL1 200895 broad.mit.edu 37 3 93780144 93780144 + Missense_Mutation SNP C C A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:93780144C>A ENST00000394221.2 - 2 661 c.212G>T c.(211-213)aGa>aTa p.R71I DHFRL1_ENST00000481631.1_Intron|DHFRL1_ENST00000314636.2_Missense_Mutation_p.R71I NM_001195643.1 NP_001182572.1 Q86XF0 DYRL1_HUMAN dihydrofolate reductase-like 1 71 DHFR. glycine biosynthetic process|nucleotide biosynthetic process|one-carbon metabolic process dihydrofolate reductase activity|NADP binding kidney(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1) 8 TAAATTAATTCTATCCTTTAA 0.413000 61 90 9.77497e-20 9.97196e-20 1 1 0 SIGLEC8 27181 broad.mit.edu 37 19 51961433 51961433 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:51961433C>T ENST00000321424.3 - 1 275 c.209G>A c.(208-210)gGa>gAa p.G70E SIGLEC8_ENST00000340550.5_Missense_Mutation_p.G70E|SIGLEC8_ENST00000430817.1_Missense_Mutation_p.G70E NM_014442.2 NP_055257.2 Q9NYZ4 SIGL8_HUMAN sialic acid binding Ig-like lectin 8 70 Ig-like V-type. cell adhesion integral to membrane sugar binding|transmembrane receptor activity NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2) 50 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) TGGTCTGTCTCCTGCCCGGAA 0.592000 43 62 0 0 1 0 0 MYO3A 53904 broad.mit.edu 37 10 26436377 26436377 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:26436377G>A ENST00000265944.5 + 23 2690 c.2524G>A c.(2524-2526)Gga>Aga p.G842R MYO3A_ENST00000543632.1_Intron NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 842 Myosin head-like. protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 TAATGCAAGTGGATTCTTAGC 0.408000 27 67 0 0 1 0 0 SIGLEC6 946 broad.mit.edu 37 19 52034538 52034538 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:52034538C>T ENST00000346477.3 - 2 371 c.303G>A c.(301-303)agG>agA p.R101R SIGLEC6_ENST00000436458.1_Silent_p.R65R|SIGLEC6_ENST00000343300.4_Silent_p.R101R|SIGLEC6_ENST00000391797.3_Silent_p.R101R|SIGLEC6_ENST00000425629.3_Silent_p.R101R|SIGLEC6_ENST00000359982.4_Silent_p.R101R NM_198845.4 NP_942142.3 O43699 SIGL6_HUMAN sialic acid binding Ig-like lectin 6 101 Ig-like V-type. cell adhesion|cell-cell signaling cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1) 28 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165) AGCAGTTCTTCCTTCTGGGAT 0.537000 26 59 0 0 1 0 0 CSHL1 1444 broad.mit.edu 37 17 61987974 61987974 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:61987974G>A ENST00000392824.4 - 2 382 c.321C>T c.(319-321)ccC>ccT p.P107P CSHL1_ENST00000450719.3_Intron|CSHL1_ENST00000561003.1_Intron|CSHL1_ENST00000309894.5_Intron|CSHL1_ENST00000259003.10_Intron|CSHL1_ENST00000346606.6_Intron|CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000558099.1_5'UTR Q14406 CSHL_HUMAN chorionic somatomammotropin hormone-like 1 0 extracellular region hormone activity|metal ion binding endometrium(3)|lung(6) 9 TTACTCTTCTGGGAACCTGGC 0.522000 30 44 0 0 1 0 0 ENOX2 10495 broad.mit.edu 37 X 129813718 129813718 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:129813718G>A ENST00000338144.3 - 7 762 c.345C>T c.(343-345)ctC>ctT p.L115L ENOX2_ENST00000370935.1_Silent_p.L86L|ENOX2_ENST00000394363.1_Silent_p.L86L|ENOX2_ENST00000492263.1_5'UTR|ENOX2_ENST00000370927.1_Silent_p.L115L NM_182314.1 NP_872114.1 Q16206 ENOX2_HUMAN ecto-NOX disulfide-thiol exchanger 2 115 Pro-rich. cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm cytosol|external side of plasma membrane|extracellular space nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3) 33 CAGGAGGTGGGAGATCTAAGT 0.428000 28 57 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103301848 103301848 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:103301848C>T ENST00000428762.1 - 12 1575 c.1416G>A c.(1414-1416)ggG>ggA p.G472G RELN_ENST00000343529.5_Silent_p.G472G|RELN_ENST00000424685.2_Silent_p.G472G NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 472 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) ACCTCAGGTTCCCATAACCGG 0.438000 25 63 0 0 1 0 0 MYO3A 53904 broad.mit.edu 37 10 26500951 26500951 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:26500951G>A ENST00000543632.1 + 17 2016 c.1956G>A c.(1954-1956)ggG>ggA p.G652G MYO3A_ENST00000265944.5_3'UTR Q8NEV4 MYO3A_HUMAN myosin IIIA 0 Myosin head-like. protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 GGCAGCAGGGGCCAAGCAGGC 0.706000 7 4 0 0 1 0 0 ESRRG 2104 broad.mit.edu 37 1 216850733 216850733 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:216850733C>T ENST00000391890.3 - 4 605 c.88G>A c.(88-90)Gtc>Atc p.V30I ESRRG_ENST00000493603.1_Missense_Mutation_p.V30I|ESRRG_ENST00000366937.1_Missense_Mutation_p.V58I|ESRRG_ENST00000487276.1_Missense_Mutation_p.V30I|ESRRG_ENST00000366940.2_Missense_Mutation_p.V30I|ESRRG_ENST00000361395.2_Missense_Mutation_p.V30I|ESRRG_ENST00000360012.3_Missense_Mutation_p.V30I|ESRRG_ENST00000359162.2_Missense_Mutation_p.V30I|ESRRG_ENST00000366938.2_Missense_Mutation_p.V30I|ESRRG_ENST00000408911.3_Missense_Mutation_p.V53I|ESRRG_ENST00000463665.1_Missense_Mutation_p.V30I|ESRRG_ENST00000361525.3_Missense_Mutation_p.V30I|ESRRG_ENST00000493748.1_Missense_Mutation_p.V30I NM_001243515.1|NM_001243519.1 NP_001230444.1|NP_001230448.1 P62508 ERR3_HUMAN estrogen-related receptor gamma 53 positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713) Diethylstilbestrol(DB00255) TGGTGGTTGACGCTGTCCGTC 0.547000 4 56 0 0 1 0 0 CD300LF 146722 broad.mit.edu 37 17 72691918 72691918 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:72691918G>A ENST00000469092.1 - 6 835 c.559C>T c.(559-561)Cac>Tac p.H187Y RAB37_ENST00000402449.4_Intron|RAB37_ENST00000340415.3_Intron|CD300LF_ENST00000581500.1_Missense_Mutation_p.H232Y|CD300LF_ENST00000326165.6_Silent_p.T221T|CD300LF_ENST00000464910.1_Silent_p.T224T|CD300LF_ENST00000301573.9_Missense_Mutation_p.H237Y|CD300LF_ENST00000583937.1_Silent_p.T236T|CD300LF_ENST00000361254.4_Missense_Mutation_p.H232Y|CD300LF_ENST00000343125.4_Missense_Mutation_p.H187Y Q8TDQ1 CLM1_HUMAN CD300 molecule-like family member f 0 integral to membrane|plasma membrane receptor activity endometrium(2)|large_intestine(1)|lung(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 12 AAAGCTTCGTGGTAGCCTTTT 0.632000 21 32 0 0 1 0 0 SYNPO2L 79933 broad.mit.edu 37 10 75406700 75406700 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:75406700G>A ENST00000394810.2 - 4 2859 c.2710C>T c.(2710-2712)Ccc>Tcc p.P904S SYNPO2L_ENST00000372872.4_Intron|SYNPO2L_ENST00000372873.4_Missense_Mutation_p.P680S NM_001114133.1 NP_001107605.1 Q9H987 SYP2L_HUMAN synaptopodin 2-like 904 Pro-rich. cytoplasm|cytoskeleton actin binding breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Prostate(51;0.0112) AGCACAGTGGGAGCCAGGGGT 0.642000 26 48 0 0 1 0 0 PIK3CG 5294 broad.mit.edu 37 7 106509197 106509197 + Missense_Mutation SNP G G T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:106509197G>T ENST00000359195.3 + 2 1501 c.1191G>T c.(1189-1191)agG>agT p.R397S PIK3CG_ENST00000496166.1_Missense_Mutation_p.R397S|PIK3CG_ENST00000440650.2_Missense_Mutation_p.R397S NM_002649.2 NP_002640.2 P48736 PK3CG_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma 397 G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 132 TTTGCCAAAGGAGAACCAGCC 0.507000 28 36 1.75199e-13 1.77698e-13 1 1 0 RASGRP3 25780 broad.mit.edu 37 2 33768606 33768606 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:33768606C>T ENST00000403687.3 + 13 2046 c.1306C>T c.(1306-1308)Cat>Tat p.H436Y RASGRP3_ENST00000482731.1_3'UTR|RASGRP3_ENST00000402538.3_Missense_Mutation_p.H436Y|RASGRP3_ENST00000407811.1_Missense_Mutation_p.H435Y NM_001139488.1 NP_001132960.1 Q8IV61 GRP3_HUMAN RAS guanyl releasing protein 3 (calcium and DAG-regulated) 436 EF-hand 1. MAPKKK cascade|small GTPase mediated signal transduction integral to plasma membrane|intracellular calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2) 11 all_hematologic(175;0.115) TGATCACGACCATGATGGGTA 0.368000 3 15 0 0 1 0 0 RTN3 10313 broad.mit.edu 37 11 63486458 63486458 + Missense_Mutation SNP T T A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:63486458T>A ENST00000377819.5 + 3 638 c.484T>A c.(484-486)Ttc>Atc p.F162I RTN3_ENST00000356000.3_Intron|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000339997.4_Missense_Mutation_p.F143I|RTN3_ENST00000341307.2_Intron|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000540798.1_Missense_Mutation_p.F50I NM_001265589.1 NP_001252518.1 O95197 RTN3_HUMAN reticulon 3 162 apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 20 TCCAGCCAGTTTCCCAGAGCA 0.458000 30 38 0 0 1 0 0 MAST4 375449 broad.mit.edu 37 5 66461819 66461819 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:66461819C>T ENST00000404260.3 + 29 7129 c.6821C>T c.(6820-6822)cCc>cTc p.P2274L MAST4_ENST00000261569.7_Missense_Mutation_p.P2077L|MAST4_ENST00000403625.2_Missense_Mutation_p.P2271L|MAST4_ENST00000405643.1_Missense_Mutation_p.P2092L|MAST4_ENST00000403666.1_Missense_Mutation_p.P2082L O15021 MAST4_HUMAN microtubule associated serine/threonine kinase family member 4 2274 cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) GAAGGTGGGCCCTCTGTCCCA 0.627000 OREG0016638 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 30 0 0 1 0 0 FAM53C 51307 broad.mit.edu 37 5 137680634 137680634 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:137680634C>T ENST00000239906.5 + 4 685 c.257C>T c.(256-258)tCc>tTc p.S86F FAM53C_ENST00000434981.2_Missense_Mutation_p.S86F|FAM53C_ENST00000507506.1_3'UTR|FAM53C_ENST00000513056.1_Intron NM_016605.2 NP_057689.1 Q9NYF3 FA53C_HUMAN family with sequence similarity 53, member C 86 breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 17 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) CGGGGAAACTCCCCCAAGGAG 0.622000 43 61 0 0 1 0 0 TENC1 23371 broad.mit.edu 37 12 53453557 53453557 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:53453557G>A ENST00000314250.6 + 18 2422 c.2132G>A c.(2131-2133)aGg>aAg p.R711K TENC1_ENST00000451358.1_Missense_Mutation_p.R701K|TENC1_ENST00000552570.1_Missense_Mutation_p.R711K|TENC1_ENST00000314276.3_Missense_Mutation_p.R721K|TENC1_ENST00000546602.1_Missense_Mutation_p.R711K|TENC1_ENST00000379902.3_Missense_Mutation_p.R587K|TENC1_ENST00000549700.1_Missense_Mutation_p.R711K NM_170754.2 NP_736610.2 Q63HR2 TENC1_HUMAN tensin like C1 domain containing phosphatase (tensin 2) 711 intracellular signal transduction|negative regulation of cell proliferation focal adhesion metal ion binding|phosphoprotein phosphatase activity|protein binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3) 34 CGGCTGGAGAGGGAGGCTGGA 0.662000 14 25 0 0 1 0 0 MAP1S 55201 broad.mit.edu 37 19 17838567 17838567 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:17838567C>T ENST00000324096.4 + 5 2525 c.2374C>T c.(2374-2376)Ccc>Tcc p.P792S MAP1S_ENST00000544059.2_Missense_Mutation_p.P766S|MAP1S_ENST00000597681.1_3'UTR NM_018174.4 NP_060644.4 Q66K74 MAP1S_HUMAN microtubule-associated protein 1S 792 Necessary for association with microtubules.|Necessary for interaction with RASSF1 isoform A and isoform C.|Necessary for the microtubule-organizing center localization.|Pro-rich. apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse actin filament binding|beta-tubulin binding|DNA binding|microtubule binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 25 CGAGTCCCTGCCCACCCTGTC 0.687000 7 7 0 0 1 0 0 EGFLAM 133584 broad.mit.edu 37 5 38407185 38407185 + Missense_Mutation SNP T T A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:38407185T>A ENST00000322350.5 + 8 1430 c.1084T>A c.(1084-1086)Tac>Aac p.Y362N EGFLAM_ENST00000397202.2_Intron|EGFLAM_ENST00000336740.6_Missense_Mutation_p.Y128N|EGFLAM_ENST00000354891.3_Missense_Mutation_p.Y362N NM_152403.3 NP_689616.2 Q63HQ2 EGFLA_HUMAN EGF-like, fibronectin type III and laminin G domains 362 EGF-like 1. cell junction|proteinaceous extracellular matrix|synapse NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 85 all_lung(31;0.000385) TGTCAATGACTACACCTGGGG 0.537000 28 37 0 0 1 0 0 RPN1 6184 broad.mit.edu 37 3 128348886 128348886 + Missense_Mutation SNP T T A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:128348886T>A ENST00000296255.3 - 5 992 c.944A>T c.(943-945)gAa>gTa p.E315V RPN1_ENST00000497289.1_Missense_Mutation_p.E143V NM_002950.3 NP_002941.1 P04843 RPN1_HUMAN ribophorin I 315 post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|melanosome|oligosaccharyltransferase complex|rough microsome dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|stomach(2) 13 GBM - Glioblastoma multiforme(114;0.189) AGGCCGGATTTCCATCTCTAC 0.493000 T EVI1 AML 16 38 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179644006 179644006 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:179644006C>T ENST00000589042.1 - 23 4137 c.3913G>A c.(3913-3915)Ggg>Agg p.G1305R TTN_ENST00000342992.6_Missense_Mutation_p.G1305R|TTN_ENST00000591111.1_Missense_Mutation_p.G1305R|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G1259R|TTN_ENST00000360870.5_Missense_Mutation_p.G1305R|TTN_ENST00000342175.6_Missense_Mutation_p.G1259R|TTN_ENST00000460472.2_Missense_Mutation_p.G1259R NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 1305 Ig-like 5. 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) ACACCCATCCCCTCAAGAATT 0.348000 17 49 0 0 1 0 0 SIM2 6493 broad.mit.edu 37 21 38072052 38072052 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr21:38072052G>A ENST00000290399.6 + 1 619 c.6G>A c.(4-6)aaG>aaA p.K2K AP000697.6_ENST00000430607.1_RNA|SIM2_ENST00000460783.1_3'UTR|SIM2_ENST00000430056.3_Silent_p.K2K NM_005069.3 NP_005060.1 Q14190 SIM2_HUMAN single-minded family bHLH transcription factor 2 2 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2) 16 GCGCGATGAAGGAGAAGTCCA 0.672000 14 3 0 0 1 0 0 NCKAP5 344148 broad.mit.edu 37 2 133540565 133540565 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:133540565G>A ENST00000409261.1 - 14 4192 c.3819C>T c.(3817-3819)gcC>gcT p.A1273A NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Silent_p.A1273A NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 1273 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 TGTGGCTGCGGGCTTTGGCGC 0.532000 39 66 0 0 1 0 0 TRPA1 8989 broad.mit.edu 37 8 72958801 72958801 + Missense_Mutation SNP T T G TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:72958801T>G ENST00000262209.4 - 17 2215 c.2008A>C c.(2008-2010)Acc>Ccc p.T670P RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron NM_007332.2 NP_015628.2 O75762 TRPA1_HUMAN transient receptor potential cation channel, subfamily A, member 1 670 integral to plasma membrane NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1) 98 Epithelial(68;0.223) Menthol(DB00825) GTTTTTTTGGTGAATTCTAAT 0.294000 29 42 0 0 1 0 0 NBN 4683 broad.mit.edu 37 8 90958432 90958432 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:90958432G>A ENST00000265433.3 - 13 2160 c.2006C>T c.(2005-2007)tCc>tTc p.S669F NBN_ENST00000409330.1_Missense_Mutation_p.S587F NM_002485.4 NP_002476.2 O60934 NBN_HUMAN nibrin 669 cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm protein N-terminus binding|transcription factor binding autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 27 BRCA - Breast invasive adenocarcinoma(11;0.0344) TGGATTTCTGGAAGTAGAGTT 0.328000 Homologous recombination 20 54 0 0 1 0 0 FBXO34 55030 broad.mit.edu 37 14 55818703 55818703 + Missense_Mutation SNP T T C TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr14:55818703T>C ENST00000313833.4 + 2 1840 c.1595T>C c.(1594-1596)gTa>gCa p.V532A FBXO34_ENST00000440021.1_Missense_Mutation_p.V532A NM_017943.3 NP_060413.2 Q9NWN3 FBX34_HUMAN F-box protein 34 532 breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3) 22 GAGCCATTTGTACTGCCAGCC 0.498000 54 91 0 0 1 0 0 EN2 2020 broad.mit.edu 37 7 155251019 155251019 + Translation_Start_Site SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:155251019G>A ENST00000297375.4 + 0 196 NM_001427.3 NP_001418.2 P19622 HME2_HUMAN engrailed homeobox 2 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|large_intestine(1)|lung(2) 4 all_neural(206;0.119) all_hematologic(28;0.0592) OV - Ovarian serous cystadenocarcinoma(82;0.011) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) AGGGCCGAAGGCTGATTTGGA 0.701000 6 8 0 0 1 0 0 RAB11FIP2 22841 broad.mit.edu 37 10 119799987 119799987 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:119799987G>A ENST00000355624.3 - 2 882 c.443C>T c.(442-444)aCc>aTc p.T148I RP11-354M20.3_ENST00000451610.2_RNA|RP11-354M20.3_ENST00000417968.3_RNA|RAB11FIP2_ENST00000369199.3_Missense_Mutation_p.T148I NM_014904.2 NP_055719.1 Q7L804 RFIP2_HUMAN RAB11 family interacting protein 2 (class I) 148 protein transport plasma membrane|recycling endosome membrane protein homodimerization activity cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8) 19 Colorectal(252;0.235) all cancers(201;0.0238) CATACTTGCGGTCATATTGTT 0.333000 19 32 0 0 1 0 0 KIAA0100 9703 broad.mit.edu 37 17 26964946 26964946 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:26964946C>T ENST00000528896.2 - 14 1753 c.1679G>A c.(1678-1680)aGg>aAg p.R560K KIAA0100_ENST00000389003.3_Missense_Mutation_p.R417K|KIAA0100_ENST00000544884.1_Missense_Mutation_p.R417K NM_014680.3 NP_055495.2 Q14667 K0100_HUMAN KIAA0100 560 extracellular region breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3) 68 Lung NSC(42;0.00431) TGAAGAGTGCCTAGAGACAGC 0.478000 21 28 0 0 1 0 0 BMP7 655 broad.mit.edu 37 20 55803323 55803323 + Silent SNP C C T rs139592459 byFrequency TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr20:55803323C>T ENST00000395863.3 - 2 1078 c.573G>A c.(571-573)cgG>cgA p.R191R BMP7_ENST00000450594.2_Silent_p.R191R|BMP7_ENST00000395864.3_Silent_p.R191R NM_001719.2 NP_001710.1 P18075 BMP7_HUMAN bone morphogenetic protein 7 191 BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development extracellular space cytokine activity|growth factor activity endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1) 20 all_lung(29;0.0133)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07) AAACGCTGATCCGGAACGTCT 0.552000 64 113 0 0 1 0 0 NDN 4692 broad.mit.edu 37 15 23932306 23932306 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr15:23932306G>A ENST00000331837.4 - 1 144 c.59C>T c.(58-60)tCc>tTc p.S20F NM_002487.2 NP_002478.1 Q99608 NECD_HUMAN necdin, melanoma antigen (MAGE) family member 20 negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perikaryon DNA binding breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1) 39 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153) GTGCACCTCGGAGTTGGGGGC 0.667000 Prader-Willi syndrome 14 10 0 0 1 0 0 GLI3 2737 broad.mit.edu 37 7 42017192 42017192 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:42017192G>A ENST00000395925.3 - 12 1861 c.1777C>T c.(1777-1779)Cgc>Tgc p.R593C GLI3_ENST00000479210.1_5'UTR NM_000168.5 NP_000159.3 P10071 GLI3_HUMAN GLI family zinc finger 3 593 negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 112 TGTTTGGCGCGATCAGAGGCA 0.468000 Pallister-Hall syndrome;Greig Cephalopolysyndactyly OREG0018015 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 21 33 0 0 1 0 0 PDE6B 5158 broad.mit.edu 37 4 657938 657938 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr4:657938C>T ENST00000255622.6 + 17 2100 c.2057C>T c.(2056-2058)tCc>tTc p.S686F PDE6B_ENST00000496514.1_Missense_Mutation_p.S686F|PDE6B_ENST00000429163.2_Missense_Mutation_p.S407F NM_000283.3|NM_001145291.1 NP_000274.2|NP_001138763.1 P35913 PDE6B_HUMAN phosphodiesterase 6B, cGMP-specific, rod, beta 686 cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception cytosol|membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1) 30 GTGGATGAGTCCAAGAACTAC 0.617000 32 34 0 0 1 0 0 ISM2 145501 broad.mit.edu 37 14 77942412 77942412 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr14:77942412G>A ENST00000393684.3 - 8 1369 c.978C>T c.(976-978)ttC>ttT p.F326F ISM2_ENST00000429906.1_Silent_p.F333F|ISM2_ENST00000342219.4_Silent_p.F414F|ISM2_ENST00000412904.1_Silent_p.F333F|ISM2_ENST00000493585.1_3'UTR Q6H9L7 ISM2_HUMAN isthmin 2 414 extracellular region endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1) 21 ACTTGATTAGGAAGTCGCTCT 0.602000 30 41 0 0 1 0 0 MYH10 4628 broad.mit.edu 37 17 8398529 8398529 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:8398529C>T ENST00000360416.3 - 31 4120 c.3982G>A c.(3982-3984)Gaa>Aaa p.E1328K MYH10_ENST00000379980.4_Missense_Mutation_p.E1313K|MYH10_ENST00000396239.1_Missense_Mutation_p.E1318K|MYH10_ENST00000269243.4_Missense_Mutation_p.E1297K NM_001256012.1 NP_001242941.1 P35580 MYH10_HUMAN myosin, heavy chain 10, non-muscle 1297 actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1) 52 TCTGCTTCTTCCAGAAGGGTG 0.423000 22 43 0 0 1 0 0 TRAV6 6956 broad.mit.edu 37 14 22237280 22237280 + RNA SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr14:22237280C>T ENST00000390428.3 + 0 364 TCACAGCCTCCCAGCCTGCAG 0.463000 58 129 0 0 1 0 0 C16orf3 750 broad.mit.edu 37 16 90095716 90095716 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr16:90095716G>A ENST00000408886.2 - 1 593 c.35C>T c.(34-36)cCa>cTa p.P12L GAS8_ENST00000536122.1_Intron|GAS8_ENST00000268699.4_Intron|GAS8_ENST00000540721.1_Intron NM_001214.3 NP_001205.3 O95177 CP003_HUMAN chromosome 16 open reading frame 3 12 large_intestine(1)|lung(2)|prostate(1) 4 all_cancers(9;9.01e-08)|Hepatocellular(780;0.000325)|Lung NSC(15;0.0104)|all_lung(18;0.0239) BRCA - Breast invasive adenocarcinoma(80;0.0272) ggggtgacctggagactcctg 0.582000 24 43 0 0 1 0 0 PRSS50 29122 broad.mit.edu 37 3 46755991 46755991 + Splice_Site SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:46755991C>T ENST00000460241.1 - 9 2141 c.470_splice c.e9-1 p.W157_splice PRSS50_ENST00000315170.7_Splice_Site_p.W157_splice Q9UI38 TSP50_HUMAN protease, serine, 50 157 Peptidase S1. proteolysis endoplasmic reticulum serine-type endopeptidase activity|threonine-type endopeptidase activity endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 11 TAACATCACGCCTAGGGGGGC 0.637000 6 6 0 0 1 0 0 CMTM5 116173 broad.mit.edu 37 14 23848308 23848308 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr14:23848308G>A ENST00000359320.3 + 3 792 c.348G>A c.(346-348)cgG>cgA p.R116R CMTM5_ENST00000555731.1_Silent_p.R78R|CMTM5_ENST00000382809.2_Intron|CMTM5_ENST00000339180.4_Silent_p.R183R|CMTM5_ENST00000342473.4_Intron|CMTM5_ENST00000397227.3_Silent_p.R65R NM_138460.2 NP_612469.1 Q96DZ9 CKLF5_HUMAN CKLF-like MARVEL transmembrane domain containing 5 183 MARVEL. chemotaxis extracellular space|integral to membrane cytokine activity endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1) 8 all_cancers(95;2e-05) GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382) TGACCTCCCGGGACGGAGCTG 0.582000 8 22 0 0 1 0 0 TRPM8 79054 broad.mit.edu 37 2 234871983 234871983 + Nonsense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:234871983C>T ENST00000324695.4 + 13 1751 c.1711C>T c.(1711-1713)Cag>Tag p.Q571* TRPM8_ENST00000433712.2_Nonsense_Mutation_p.Q259* NM_024080.4 NP_076985.4 Q7Z2W7 TRPM8_HUMAN transient receptor potential cation channel, subfamily M, member 8 571 integral to membrane breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2) 66 Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224) Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108) Menthol(DB00825) GGCCATTCTTCAGAATAAGAA 0.463000 18 9 0 0 1 0 0 ABRA 137735 broad.mit.edu 37 8 107782412 107782412 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:107782412G>A ENST00000311955.3 - 1 61 c.7C>T c.(7-9)Ccg>Tcg p.P3S NM_139166.4 NP_631905.1 Q8N0Z2 ABRA_HUMAN actin-binding Rho activating protein 3 positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport actin cytoskeleton|plasma membrane|sarcomere actin binding breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2) 27 OV - Ovarian serous cystadenocarcinoma(57;3.83e-09) TTTTCGCCCGGAGCCATGCTG 0.592000 10 38 0 0 1 0 0 TJP3 27134 broad.mit.edu 37 19 3740700 3740700 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:3740700C>T ENST00000541714.2 + 14 2244 c.1782C>T c.(1780-1782)gaC>gaT p.D594D TJP3_ENST00000262968.9_Silent_p.D627D|TJP3_ENST00000589378.1_Silent_p.D603D|TJP3_ENST00000539908.2_Silent_p.D558D|TJP3_ENST00000587686.1_Silent_p.D613D|TJP3_ENST00000382008.3_Silent_p.D608D NM_001267560.1 NP_001254489.1 O95049 ZO3_HUMAN tight junction protein 3 608 Guanylate kinase-like. tight junction protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 26 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18) GCCGTGAGGACCTCTCAGCTC 0.701000 6 4 0 0 1 0 0 CIITA 4261 broad.mit.edu 37 16 11000703 11000703 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr16:11000703C>T ENST00000324288.8 + 11 1487 c.1354C>T c.(1354-1356)Ccc>Tcc p.P452S CIITA_ENST00000537380.1_Intron|CIITA_ENST00000381835.5_Intron NM_000246.3 NP_000237.2 P33076 C2TA_HUMAN class II, major histocompatibility complex, transactivator 452 NACHT. interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent nucleus activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2) 12 CTTCTCTGTCCCCTGCCATTG 0.632000 T """FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6""" """PMBL, Hodgkin Lymphona, """ 44 77 0 0 1 0 0 PRR5 55615 broad.mit.edu 37 22 45132948 45132948 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr22:45132948G>A ENST00000403581.1 + 10 1666 c.1057G>A c.(1057-1059)Gag>Aag p.E353K ARHGAP8_ENST00000389773.5_Intron|PRR5-ARHGAP8_ENST00000361473.5_Intron|PRR5_ENST00000336985.6_Missense_Mutation_p.E330K|PRR5-ARHGAP8_ENST00000352766.7_Intron|ARHGAP8_ENST00000517296.3_Intron|PRR5_ENST00000477331.1_3'UTR NM_001198721.1 NP_001185650.1 proline rich 5 (renal) central_nervous_system(1)|endometrium(2)|lung(6)|prostate(1)|skin(1) 11 all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647) UCEC - Uterine corpus endometrioid carcinoma (28;0.168) CCAGCCCCCTGAGCAGGGCTT 0.711000 16 28 0 0 1 0 0 MATN1 4146 broad.mit.edu 37 1 31194585 31194585 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:31194585C>T ENST00000373765.4 - 2 143 c.108G>A c.(106-108)cgG>cgA p.R36R MATN1-AS1_ENST00000454613.1_RNA|MATN1-AS1_ENST00000414532.2_RNA NM_002379.3 NP_002370.1 P21941 MATN1_HUMAN matrilin 1, cartilage matrix protein 36 VWFA 1. protein complex assembly proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1) 12 Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123) Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649) TGGGCCGCGTCCGGCAGAGAT 0.577000 12 35 0 0 1 0 0 PKHD1 5314 broad.mit.edu 37 6 51720722 51720722 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr6:51720722G>A ENST00000371117.3 - 49 8155 c.7880C>T c.(7879-7881)tCt>tTt p.S2627F PKHD1_ENST00000340994.4_Missense_Mutation_p.S2627F NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 2627 cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) AAGGTTCTCAGATTGCAATGA 0.408000 17 80 0 0 1 0 0 ARHGEF17 9828 broad.mit.edu 37 11 73073652 73073652 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:73073652C>T ENST00000263674.3 + 14 5219 c.4869C>T c.(4867-4869)ctC>ctT p.L1623L NM_014786.3 NP_055601.2 Q96PE2 ARHGH_HUMAN Rho guanine nucleotide exchange factor (GEF) 17 1623 actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol Rho guanyl-nucleotide exchange factor activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2) 32 CGCCGGGCCTCGGCGAGGGTG 0.701000 16 15 0 0 1 0 0 FAT2 2196 broad.mit.edu 37 5 150946583 150946583 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:150946583G>A ENST00000261800.5 - 1 1922 c.1910C>T c.(1909-1911)tCc>tTc p.S637F NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 637 Cadherin 5. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) AATCTTCAGGGAATAACTGGT 0.413000 38 59 0 0 1 0 0 DHCR24 1718 broad.mit.edu 37 1 55317918 55317918 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:55317918G>A ENST00000371269.3 - 9 1637 c.1539C>T c.(1537-1539)gcC>gcT p.A513A DHCR24_ENST00000535035.1_Silent_p.A472A|DHCR24_ENST00000537443.1_Silent_p.A297A NM_014762.3 NP_055577.1 Q15392 DHC24_HUMAN 24-dehydrocholesterol reductase 513 anti-apoptosis|apoptosis|cell cycle arrest|cholesterol biosynthetic process|negative regulation of caspase activity|neuroprotection|response to oxidative stress|skin development endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus delta24-sterol reductase activity|enzyme binding|flavin adenine dinucleotide binding|peptide antigen binding large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1) 7 AGTGCCTGGCGGCCTTGCAGA 0.572000 28 23 0 0 1 0 0 TRAV12-2 28673 broad.mit.edu 37 14 22356114 22356114 + RNA SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr14:22356114C>T ENST00000390437.2 + 0 78 AAATTTGAATCCTCAGTGAAC 0.348000 7 12 0 0 1 0 0 PEG3 5178 broad.mit.edu 37 19 57333096 57333096 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:57333096G>A ENST00000326441.9 - 7 955 c.592C>T c.(592-594)Cct>Tct p.P198S PEG3_ENST00000593695.1_Missense_Mutation_p.P72S|ZIM2_ENST00000593711.1_Missense_Mutation_p.P73S|PEG3_ENST00000423103.2_Missense_Mutation_p.P198S|ZIM2_ENST00000391708.3_Missense_Mutation_p.P73S|ZIM2_ENST00000221722.5_Missense_Mutation_p.P73S|ZIM2_ENST00000599935.1_Missense_Mutation_p.P73S|PEG3_ENST00000598410.1_Missense_Mutation_p.P73S|ZIM2_ENST00000601070.1_Missense_Mutation_p.P73S NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 198 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) GCCACCACAGGAAGGGAAAGA 0.537000 54 92 0 0 1 0 0 TNXB 7148 broad.mit.edu 37 6 32036477 32036477 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr6:32036477C>T ENST00000375244.3 - 17 6111 c.5910G>A c.(5908-5910)gaG>gaA p.E1970E TNXB_ENST00000375247.2_Silent_p.E1970E P22105 TENX_HUMAN tenascin XB 2052 Fibronectin type-III 12. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 GCTTCTCCTCCTCCGGGACTG 0.632000 27 19 0 0 1 0 0 RTKN2 219790 broad.mit.edu 37 10 63959550 63959550 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:63959550G>A ENST00000373789.3 - 11 1353 c.1257C>T c.(1255-1257)ttC>ttT p.F419F RTKN2_ENST00000315289.2_Silent_p.F221F|RTKN2_ENST00000395265.1_Silent_p.F440F NM_145307.2 NP_660350.2 Q8IZC4 RTKN2_HUMAN rhotekin 2 419 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) CTTTTGTCAAGAACAAAGGTG 0.398000 23 41 0 0 1 0 0 LRIG2 9860 broad.mit.edu 37 1 113666513 113666513 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:113666513C>T ENST00000361127.4 + 18 3186 c.2988C>T c.(2986-2988)ccC>ccT p.P996P LRIG2_ENST00000492207.1_3'UTR NM_014813.1 NP_055628.1 O94898 LRIG2_HUMAN leucine-rich repeats and immunoglobulin-like domains 2 996 cytoplasm|integral to membrane|plasma membrane breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1) 31 Lung SC(450;0.246) all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986) Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15) TGCAGCGGCCCGTGTGGAACA 0.433000 11 13 0 0 1 0 0 GRIPAP1 56850 broad.mit.edu 37 X 48841725 48841725 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:48841725C>T ENST00000376423.4 - 13 1005 c.973G>A c.(973-975)Gag>Aag p.E325K GRIPAP1_ENST00000376425.3_Missense_Mutation_p.E347K|GRIPAP1_ENST00000473581.1_5'UTR|GRIPAP1_ENST00000376441.1_Missense_Mutation_p.E378K|GRIPAP1_ENST00000376444.3_Missense_Mutation_p.E333K NM_207672.1 NP_997555.1 Q4V328 GRAP1_HUMAN GRIP1 associated protein 1 378 early endosome breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2) 10 ATAAGGTCCTCGTACTCAGCC 0.532000 22 28 0 0 1 0 0 ZNF253 56242 broad.mit.edu 37 19 20002804 20002804 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:20002804C>T ENST00000589717.1 + 4 840 c.748C>T c.(748-750)Cat>Tat p.H250Y ZNF253_ENST00000355650.4_Missense_Mutation_p.H174Y NM_021047.2 NP_066385.2 O75346 ZN253_HUMAN zinc finger protein 253 250 Missing (in Ref. 1; AAC26844). negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TAAGAAAATTCATACTGGAGA 0.403000 23 32 0 0 1 0 0 PCDH1 5097 broad.mit.edu 37 5 141236840 141236840 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:141236840C>T ENST00000287008.3 - 4 3443 c.3296G>A c.(3295-3297)gGa>gAa p.G1099E PCDH1_ENST00000503492.1_Missense_Mutation_p.G367E NM_032420.2 NP_115796.2 Q08174 PCDH1_HUMAN protocadherin 1 0 cell-cell signaling|homophilic cell adhesion|nervous system development cell-cell junction|integral to plasma membrane calcium ion binding breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1) 51 Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GBM - Glioblastoma multiforme(465;1.06e-05) CTCCATCTCTCCTATGCTGCC 0.597000 22 25 0 0 1 0 0 CLCNKB 1188 broad.mit.edu 37 1 16383004 16383004 + Splice_Site SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:16383004G>A ENST00000375679.4 + 19 2127 c.e19+1 CLCNKB_ENST00000375667.3_Splice_Site NM_000085.4 NP_000076.2 chloride channel, voltage-sensitive Kb breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1) 21 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) CTGGGTGGAGGTACCAGGGTC 0.627000 OREG0013133 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 56 64 0 0 1 0 0 KIF6 221458 broad.mit.edu 37 6 39507891 39507891 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr6:39507891G>A ENST00000287152.7 - 13 1627 c.1533C>T c.(1531-1533)ttC>ttT p.F511F KIF6_ENST00000373213.4_Silent_p.F350F|KIF6_ENST00000538893.1_Intron|KIF6_ENST00000373215.3_Silent_p.F511F|KIF6_ENST00000373216.3_Silent_p.F511F NM_145027.4 NP_659464.3 Q6ZMV9 KIF6_HUMAN kinesin family member 6 511 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity|protein binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 TTCCTAGGCGGAAGGGTGGGC 0.498000 9 124 0 0 1 0 0 FAM174B 400451 broad.mit.edu 37 15 93162622 93162622 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr15:93162622C>T ENST00000555748.1 - 3 473 c.120G>A c.(118-120)aaG>aaA p.K40K FAM174B_ENST00000555696.1_Silent_p.K40K|FAM174B_ENST00000553393.1_Intron|RP11-386M24.9_ENST00000607766.1_RNA|FAM174B_ENST00000555064.1_Silent_p.K40K|FAM174B_ENST00000327355.5_3'UTR Q3ZCQ3 F174B_HUMAN family with sequence similarity 174, member B 0 integral to membrane endometrium(2)|lung(1) 3 AGGTCCAGTCCTTCACACCCC 0.522000 12 16 0 0 1 0 0 TARBP1 6894 broad.mit.edu 37 1 234529521 234529521 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:234529521G>A ENST00000040877.1 - 27 4305 c.4306C>T c.(4306-4308)Ccg>Tcg p.P1436S TARBP1_ENST00000483404.1_5'UTR NM_005646.3 NP_005637.3 Q13395 TARB1_HUMAN TAR (HIV-1) RNA binding protein 1 1436 regulation of transcription from RNA polymerase II promoter|RNA processing nucleus RNA binding|RNA methyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 55 Ovarian(103;0.0339) all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172) OV - Ovarian serous cystadenocarcinoma(106;0.000263) CTGTTCCACGGGATAATCTTC 0.458000 29 39 0 0 1 0 0 STK17B 9262 broad.mit.edu 37 2 197021263 197021263 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:197021263G>A ENST00000263955.4 - 3 521 c.235C>T c.(235-237)Cac>Tac p.H79Y STK17B_ENST00000409228.1_Missense_Mutation_p.H79Y NM_004226.3 NP_004217.1 O94768 ST17B_HUMAN serine/threonine kinase 17b 79 Protein kinase. apoptosis|induction of apoptosis|intracellular protein kinase cascade nucleus ATP binding|protein serine/threonine kinase activity breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(10) 15 OV - Ovarian serous cystadenocarcinoma(117;0.141) GCAATCTCGTGTAAAATTTCT 0.348000 33 47 0 0 1 0 0 DCAF8L2 347442 broad.mit.edu 37 X 27766219 27766219 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:27766219G>A ENST00000451261.2 + 5 1606 c.1207G>A c.(1207-1209)Gaa>Aaa p.E403K NM_001136533.1 NP_001130005.1 DDB1 and CUL4 associated factor 8-like 2 central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3) 24 TGATAAGAAAGAAAACAATGG 0.413000 26 26 0 0 1 0 0 GRIA4 2893 broad.mit.edu 37 11 105775945 105775945 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:105775945G>A ENST00000393127.2 + 9 1522 c.1076G>A c.(1075-1077)gGg>gAg p.G359E GRIA4_ENST00000282499.5_Missense_Mutation_p.G359E|GRIA4_ENST00000530497.1_Missense_Mutation_p.G359E|GRIA4_ENST00000428631.2_Missense_Mutation_p.G359E|GRIA4_ENST00000393125.2_Missense_Mutation_p.G359E|GRIA4_ENST00000525187.1_Missense_Mutation_p.G359E NM_001077243.2 NP_001070711.2 P48058 GRIA4_HUMAN glutamate receptor, ionotropic, AMPA 4 359 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) GGGCTGACAGGGAATGTTCAG 0.408000 18 37 0 0 1 0 0 SLC35B1 10237 broad.mit.edu 37 17 47780630 47780630 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:47780630C>T ENST00000240333.6 - 7 803 c.682G>A c.(682-684)Gag>Aag p.E228K SLC35B1_ENST00000415270.2_Missense_Mutation_p.E265K P78383 S35B1_HUMAN solute carrier family 35, member B1 228 endoplasmic reticulum membrane|integral to membrane|microsome UDP-galactose transmembrane transporter activity endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(1) 7 CTCAAGAACTCCCAGAGCTCC 0.502000 26 40 0 0 1 0 0 ZNF876P 642280 broad.mit.edu 37 4 206531 206531 + RNA SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr4:206531C>T ENST00000356347.3 + 0 133 NR_027481.1 TTGGATGATTCGTAGCTAAGA 0.632000 9 19 0 0 1 0 0 ACSM2A 123876 broad.mit.edu 37 16 20497933 20497933 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr16:20497933G>A ENST00000573854.1 + 14 1781 c.1667G>A c.(1666-1668)gGg>gAg p.G556E ACSM2A_ENST00000417235.2_Missense_Mutation_p.G477E|ACSM2A_ENST00000536134.1_Missense_Mutation_p.G328E|ACSM2A_ENST00000219054.6_Missense_Mutation_p.G556E|ACSM2A_ENST00000575690.1_Missense_Mutation_p.G556E|ACSM2A_ENST00000396104.2_Missense_Mutation_p.G556E NM_001010845.2 NP_001010845.1 Q08AH3 ACS2A_HUMAN acyl-CoA synthetase medium-chain family member 2A 556 fatty acid metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1) 51 ACTGTCACAGGGAAAATTCAA 0.478000 56 94 0 0 1 0 0 TYRO3 7301 broad.mit.edu 37 15 41865994 41865994 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr15:41865994C>T ENST00000263798.3 + 18 2487 c.2263C>T c.(2263-2265)Ccg>Tcg p.P755S TYRO3_ENST00000559066.1_Missense_Mutation_p.P710S NM_006293.3 NP_006284.2 Q06418 TYRO3_HUMAN TYRO3 protein tyrosine kinase 755 Protein kinase. integral to plasma membrane ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1) 43 all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117) GAAACAGCCTCCGGAGTGTAT 0.547000 40 75 0 0 1 0 0 BRD4 23476 broad.mit.edu 37 19 15374332 15374332 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:15374332C>T ENST00000263377.2 - 7 1461 c.1240G>A c.(1240-1242)Gat>Aat p.D414N BRD4_ENST00000371835.4_Missense_Mutation_p.D414N|BRD4_ENST00000360016.5_Missense_Mutation_p.D414N|BRD4_ENST00000602230.1_5'UTR NM_058243.2 NP_490597.1 O60885 BRD4_HUMAN bromodomain containing 4 414 Bromo 2. interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle condensed nuclear chromosome|cytoplasm protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18) TCCTGAGCATCACGGTACTCA 0.542000 T C15orf55 lethal midline carcinoma of young people 22 34 0 0 1 0 0 WAC 51322 broad.mit.edu 37 10 28900804 28900804 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:28900804C>T ENST00000375664.3 + 10 1864 c.1255C>T c.(1255-1257)Cct>Tct p.P419S WAC_ENST00000347934.4_Missense_Mutation_p.P361S|WAC_ENST00000375646.1_Missense_Mutation_p.P312S|WAC_ENST00000354911.4_Missense_Mutation_p.P464S Q9BTA9 WAC_HUMAN WW domain containing adaptor with coiled-coil 464 cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nuclear speck chromatin binding|RNA polymerase II core binding NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1) 32 TAACACAGTCCCTATCAAACC 0.418000 45 65 0 0 1 0 0 LARS2 23395 broad.mit.edu 37 3 45530194 45530194 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:45530194C>T ENST00000415258.1 + 11 1270 c.1129C>T c.(1129-1131)Ccc>Tcc p.P377S LARS2_ENST00000414984.1_Missense_Mutation_p.P334S|LARS2-AS1_ENST00000442534.2_RNA|LARS2_ENST00000265537.3_Missense_Mutation_p.P377S Q15031 SYLM_HUMAN leucyl-tRNA synthetase 2, mitochondrial 377 leucyl-tRNA aminoacylation mitochondrial matrix ATP binding|leucine-tRNA ligase activity endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 18 BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372) L-Leucine(DB00149) AATAGGAATTCCCAGTACTAG 0.458000 21 45 0 0 1 0 0 C2orf16 84226 broad.mit.edu 37 2 27802341 27802341 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:27802341G>A ENST00000408964.2 + 1 2953 c.2902G>A c.(2902-2904)Ggt>Agt p.G968S NM_032266.3 NP_115642.3 Q68DN1 CB016_HUMAN chromosome 2 open reading frame 16 968 breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1) 47 Acute lymphoblastic leukemia(172;0.155) TTTTTATCATGGTCATAAGAA 0.413000 18 49 0 0 1 0 0 GMEB2 26205 broad.mit.edu 37 20 62221768 62221768 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr20:62221768G>A ENST00000266068.1 - 9 1745 c.1267C>T c.(1267-1269)Ccg>Tcg p.P423S GMEB2_ENST00000370077.1_Missense_Mutation_p.P423S|GMEB2_ENST00000370069.1_Missense_Mutation_p.P372S Q9UKD1 GMEB2_HUMAN glucocorticoid modulatory element binding protein 2 423 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|metal ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1) 18 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114) GGGGAGGCCGGGGAGCTGGCG 0.692000 5 11 0 0 1 0 0 ATP6V0A4 50617 broad.mit.edu 37 7 138417793 138417793 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:138417793C>T ENST00000310018.2 - 17 2019 c.1737G>A c.(1735-1737)gaG>gaA p.E579E ATP6V0A4_ENST00000393054.1_Silent_p.E579E|ATP6V0A4_ENST00000353492.4_Silent_p.E579E NM_020632.2|NM_130840.2 NP_065683.2|NP_570855.2 Q9HBG4 VPP4_HUMAN ATPase, H+ transporting, lysosomal V0 subunit a4 579 cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain ATPase binding|hydrogen ion transmembrane transporter activity NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 TAAAAATCATCTCAGGGATAA 0.433000 25 60 0 0 1 0 0 MSR1 4481 broad.mit.edu 37 8 16012590 16012590 + Missense_Mutation SNP C C T rs41440349 byFrequency TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:16012590C>T ENST00000350896.3 - 6 1078 c.881G>A c.(880-882)gGa>gAa p.G294E MSR1_ENST00000445506.2_Missense_Mutation_p.G312E|MSR1_ENST00000262101.5_Missense_Mutation_p.G294E|MSR1_ENST00000536385.1_Missense_Mutation_p.G68E|MSR1_ENST00000355282.2_Missense_Mutation_p.G294E|MSR1_ENST00000381998.4_Missense_Mutation_p.G294E NM_138715.2|NM_138716.2 NP_619729.1|NP_619730.1 P21757 MSRE_HUMAN macrophage scavenger receptor 1 294 Collagen-like. cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis collagen|integral to plasma membrane|low-density lipoprotein particle low-density lipoprotein particle binding|protein binding|scavenger receptor activity haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 37 Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164) ACCTGGAAATCCTCGTGGACC 0.408000 16 31 0 0 1 0 0 TPTE 7179 broad.mit.edu 37 21 10934997 10934997 + Splice_Site SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr21:10934997C>T ENST00000298232.7 - 14 1109 c.741_splice c.e14-1 p.E248_splice TPTE_ENST00000361285.4_Splice_Site_p.E266_splice|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Splice_Site_p.E228_splice NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 266 Phosphatase tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 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) CGCACAACTTCCTAAAAAAGA 0.333000 25 55 0 0 1 0 0 GLRA1 2741 broad.mit.edu 37 5 151202405 151202405 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:151202405G>A ENST00000274576.4 - 9 1471 c.1179C>T c.(1177-1179)ccC>ccT p.P393P GLRA1_ENST00000455880.2_Silent_p.P401P|GLRA1_ENST00000545569.1_Silent_p.P310P NM_000171.3|NM_001146040.1 NP_000162.2|NP_001139512.1 P23415 GLRA1_HUMAN glycine receptor, alpha 1 401 muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 23 all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912) Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) GTGCAGGAGGGGGGTTGGTGG 0.552000 43 68 0 0 1 0 0 L1CAM 3897 broad.mit.edu 37 X 153133565 153133565 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:153133565C>T ENST00000370060.1 - 15 1905 c.1716G>A c.(1714-1716)gaG>gaA p.E572E L1CAM_ENST00000370055.1_Silent_p.E567E|L1CAM_ENST00000543994.1_Silent_p.E574E|L1CAM_ENST00000361981.3_Silent_p.E567E|L1CAM_ENST00000538883.1_Silent_p.E574E|L1CAM_ENST00000370057.3_Silent_p.E572E|L1CAM_ENST00000361699.4_Silent_p.E572E NM_001278116.1 NP_001265045.1 P32004 L1CAM_HUMAN L1 cell adhesion molecule 572 Ig-like C2-type 6. axon guidance|blood coagulation|cell death|leukocyte migration integral to membrane NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GGCGCCCATCCTCTATGAAGT 0.617000 22 37 0 0 1 0 0 ZC3H12B 340554 broad.mit.edu 37 X 64722486 64722486 + Missense_Mutation SNP A A T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:64722486A>T ENST00000338957.4 + 5 1975 c.1908A>T c.(1906-1908)ttA>ttT p.L636F ZC3H12B_ENST00000423889.3_Missense_Mutation_p.L625F NM_001010888.3 NP_001010888.3 Q5HYM0 ZC12B_HUMAN zinc finger CCCH-type containing 12B 625 endonuclease activity|nucleic acid binding|zinc ion binding breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 ATGAAGCCTTAACACGAGTGC 0.532000 15 20 0 0 1 0 0 LPPR4 9890 broad.mit.edu 37 1 99771258 99771258 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:99771258G>A ENST00000370185.3 + 7 1481 c.984G>A c.(982-984)ggG>ggA p.G328G LPPR4_ENST00000457765.1_Silent_p.G270G|LPPR4_ENST00000370184.1_Silent_p.G170G NM_014839.4 NP_055654.2 Q7Z2D5 LPPR4_HUMAN 328 phosphatidate phosphatase activity endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 72 all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202) Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22) ATGCTGTGGGGAATTTCCTGC 0.443000 32 38 0 0 1 0 0 ACD 65057 broad.mit.edu 37 16 67694198 67694198 + Missense_Mutation SNP G G T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr16:67694198G>T ENST00000219251.8 - 1 515 c.184C>A c.(184-186)Ctt>Att p.L62I ACD_ENST00000393919.4_Missense_Mutation_p.L62I NM_001082486.1|NM_001082487.1|NM_022914.2 NP_001075955.1|NP_001075956.1|NP_075065.2 Q96AP0 ACD_HUMAN adrenocortical dysplasia homolog (mouse) 62 intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly nuclear telomere cap complex|nucleoplasm DNA binding|DNA polymerase binding p.L62F(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228) TTCCTCGGAAGAGGAAGCTCC 0.736000 15 19 9.16793e-09 9.23705e-09 1 1 0 TENM1 10178 broad.mit.edu 37 X 123630900 123630900 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:123630900G>A ENST00000422452.2 - 20 3724 c.3661C>T c.(3661-3663)Ccc>Tcc p.P1221S TENM1_ENST00000461429.1_5'UTR|TENM1_ENST00000371130.3_Missense_Mutation_p.P1221S NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 TTTCCCGAGGGAAATATTCTC 0.398000 48 61 0 0 1 0 0 GPR124 25960 broad.mit.edu 37 8 37688398 37688398 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:37688398C>T ENST00000315215.7 + 7 1252 c.889C>T c.(889-891)Ctc>Ttc p.L297F GPR124_ENST00000412232.2_Missense_Mutation_p.L297F Q96PE1 GP124_HUMAN G protein-coupled receptor 124 297 Ig-like. central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis integral to membrane|plasma membrane G-protein coupled receptor activity p.L290F(1) central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 37 BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10) GGCGGGCATCCTCCTGGCCGA 0.647000 6 5 0 0 1 0 0 KALRN 8997 broad.mit.edu 37 3 123946878 123946878 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:123946878C>T ENST00000360013.3 + 2 236 c.109C>T c.(109-111)Cct>Tct p.P37S KALRN_ENST00000240874.3_Missense_Mutation_p.P37S|KALRN_ENST00000460856.1_Missense_Mutation_p.P37S NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 37 CRAL-TRIO. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 TGATGTCCTTCCTATCCTAAA 0.468000 65 101 0 0 1 0 0 HTT 3064 broad.mit.edu 37 4 3117072 3117072 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr4:3117072C>T ENST00000355072.5 + 7 934 c.789C>T c.(787-789)tcC>tcT p.S263S NM_002111.6 NP_002102.4 P42858 HD_HUMAN huntingtin 263 establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 87 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) AGTCAAGCTCCCCCACCATTC 0.453000 24 18 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237777985 237777985 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:237777985G>A ENST00000366574.2 + 37 5874 c.5557G>A c.(5557-5559)Gaa>Aaa p.E1853K RYR2_ENST00000360064.6_Missense_Mutation_p.E1851K|RYR2_ENST00000542537.1_Missense_Mutation_p.E1837K NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1853 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding p.E1851K(1) NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TGTGTTTAAAGAAGCTGCCAC 0.517000 12 28 0 0 1 0 0 C8orf34 116328 broad.mit.edu 37 8 69552622 69552622 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:69552622G>A ENST00000337103.4 + 7 2376 c.784G>A c.(784-786)Gat>Aat p.D262N C8orf34_ENST00000539993.1_Missense_Mutation_p.D287N|C8orf34_ENST00000518698.1_Missense_Mutation_p.D373N|C8orf34_ENST00000325233.3_Missense_Mutation_p.D31N Q49A92 CH034_HUMAN chromosome 8 open reading frame 34 287 signal transduction cAMP-dependent protein kinase regulator activity NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 36 Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502) GGATCTTAATGATTTAAGAAT 0.398000 17 21 0 0 1 0 0 BCHE 590 broad.mit.edu 37 3 165548246 165548246 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:165548246C>T ENST00000264381.3 - 2 742 c.576G>A c.(574-576)ggG>ggA p.G192G BCHE_ENST00000540653.1_Intron NM_000055.2 NP_000046.1 P06276 CHLE_HUMAN butyrylcholinesterase 192 choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic endoplasmic reticulum lumen|extracellular space|membrane acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1) 55 Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116) AACCCATGTTCCCTGGAGCCT 0.428000 28 49 0 0 1 0 0 KIAA1549L 25758 broad.mit.edu 37 11 33564449 33564449 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:33564449C>T ENST00000321505.4 + 1 629 c.449C>T c.(448-450)cCg>cTg p.P150L KIAA1549L_ENST00000265654.5_Missense_Mutation_p.P150L|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.P150L KIAA1549-like TCTGCTAACCCGCTGCATTTG 0.537000 OREG0020868 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 34 61 0 0 1 0 0 COL19A1 1310 broad.mit.edu 37 6 70589476 70589476 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr6:70589476C>T ENST00000322773.4 + 2 119 c.17C>T c.(16-18)cCt>cTt p.P6L COL19A1_ENST00000476656.1_3'UTR NM_001858.4 NP_001849.2 Q14993 COJA1_HUMAN collagen, type XIX, alpha 1 6 cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 109 CTCACTGGCCCTTGGAAACTT 0.433000 5 47 0 0 1 0 0 EXOC4 60412 broad.mit.edu 37 7 133041229 133041229 + Missense_Mutation SNP G G C TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:133041229G>C ENST00000253861.4 + 6 938 c.909G>C c.(907-909)ttG>ttC p.L303F EXOC4_ENST00000539845.1_Missense_Mutation_p.L202F|EXOC4_ENST00000393161.2_Missense_Mutation_p.L303F NM_021807.3 NP_068579.3 Q96A65 EXOC4_HUMAN exocyst complex component 4 303 vesicle docking involved in exocytosis exocyst protein N-terminus binding NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 50 Esophageal squamous(399;0.129) TAGAGCGCTTGGAGCAGGAGT 0.493000 24 36 0 0 1 0 0 MECP2 4204 broad.mit.edu 37 X 153296670 153296670 + Missense_Mutation SNP C C T rs61749722 TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:153296670C>T ENST00000407218.1 - 5 685 c.500G>A c.(499-501)cGt>cAt p.R167H MECP2_ENST00000303391.6_Silent_p.T203T|MECP2_ENST00000453960.2_Silent_p.T215T P51608 MECP2_HUMAN methyl CpG binding protein 2 (Rett syndrome) 82 R -> W (in MRXS13). negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent heterochromatin|nucleus double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1) 23 all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CACCCTCTGACGTGGCCGCCT 0.597000 118 174 0 0 1 0 0 CLASP1 23332 broad.mit.edu 37 2 122104659 122104659 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:122104659G>A ENST00000263710.4 - 39 4874 c.4485C>T c.(4483-4485)atC>atT p.I1495I CLASP1_ENST00000397587.3_Silent_p.I1435I|CLASP1_ENST00000541377.1_Silent_p.I1434I|CLASP1_ENST00000545861.1_Silent_p.I1202I|CLASP1_ENST00000409078.3_Silent_p.I1428I|CLASP1_ENST00000541859.1_Silent_p.I1212I|CLASP1_ENST00000455322.2_Silent_p.I1451I NM_015282.2 NP_056097.1 Q7Z460 CLAP1_HUMAN cytoplasmic linker associated protein 1 1495 Interaction with CLIP2 (By similarity).|Interaction with PHLDB2 and RSN.|Localization to kinetochores. axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule kinetochore binding|microtubule plus-end binding NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1) 47 Renal(3;0.0496) GGTCTTCTCCGATTACGGAAT 0.502000 3 7 0 0 1 0 0 COPS3 8533 broad.mit.edu 37 17 17163629 17163629 + Nonsense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:17163629G>A ENST00000539941.2 - 8 1070 c.862C>T c.(862-864)Cag>Tag p.Q288* COPS3_ENST00000268717.5_Nonsense_Mutation_p.Q308*|COPS3_ENST00000439936.2_Intron NM_001199125.1 NP_001186054.1 Q9UNS2 CSN3_HUMAN COP9 signalosome subunit 3 308 PCI. cullin deneddylation|response to light stimulus|signal transduction cytoplasm|signalosome protein binding NS(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 13 GTTAGCCTCTGAATATTCTTC 0.493000 38 58 0 0 1 0 0 BIRC6 57448 broad.mit.edu 37 2 32824950 32824950 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:32824950C>T ENST00000421745.2 + 70 14109 c.13975C>T c.(13975-13977)Ctt>Ttt p.L4659F NM_016252.3 NP_057336.3 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 4659 Ubiquitin-conjugating. anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) CAATCCAAACCTTTATAATGA 0.333000 14 13 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113697683 113697683 + Nonsense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:113697683G>A ENST00000297405.5 - 15 2678 c.2434C>T c.(2434-2436)Cag>Tag p.Q812* CSMD3_ENST00000343508.3_Nonsense_Mutation_p.Q772*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.Q708*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.Q812* NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 812 CUB 4. 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 TGGTCAGCCTGAAATTCCAAT 0.393000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 25 42 0 0 1 0 0 C10orf25 220979 broad.mit.edu 37 10 45495857 45495857 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:45495857G>A ENST00000298298.1 - 2 366 c.338C>T c.(337-339)cCt>cTt p.P113L NM_001039380.2 NP_001034469.2 Q5T742 CJ025_HUMAN chromosome 10 open reading frame 25 113 extracellular region endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1) 6 GGATGGCTGAGGAGGAGCCTG 0.512000 7 14 0 0 1 0 0 ORC1 4998 broad.mit.edu 37 1 52847412 52847412 + Nonsense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:52847412G>A ENST00000371568.3 - 14 2253 c.2035C>T c.(2035-2037)Cag>Tag p.Q679* ORC1_ENST00000371566.1_Nonsense_Mutation_p.Q679* NM_001190818.1|NM_001190819.1|NM_004153.3 NP_001177747.1|NP_001177748.1|NP_004144.2 Q13415 ORC1_HUMAN origin recognition complex, subunit 1 679 Necessary and sufficient for ORC complex assembly. cell cycle checkpoint|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 GTATAGGGCTGGAAGCACATC 0.527000 29 39 0 0 1 0 0 RERE 473 broad.mit.edu 37 1 8716264 8716264 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:8716264C>T ENST00000337907.3 - 3 727 c.93G>A c.(91-93)gaG>gaA p.E31E RERE_ENST00000400907.2_Silent_p.E31E|RERE_ENST00000400908.2_Silent_p.E31E NM_012102.3 NP_036234.3 Q9P2R6 RERE_HUMAN arginine-glutamic acid dipeptide (RE) repeats 31 multicellular organismal development|NLS-bearing substrate import into nucleus mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) AATTCTCACTCTCTCTTGCTT 0.493000 100 81 0 0 1 0 0 ESPNP 284729 broad.mit.edu 37 1 17030484 17030484 + RNA SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:17030484G>A ENST00000492551.1 - 0 851 NR_026567.1 TGGAGGAGCAGGAGTCGTAGT 0.622000 6 82 0 0 1 0 0 KIAA1024 23251 broad.mit.edu 37 15 79749050 79749050 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr15:79749050C>T ENST00000305428.3 + 2 636 c.561C>T c.(559-561)aaC>aaT p.N187N NM_015206.2 NP_056021.1 Q9UPX6 K1024_HUMAN KIAA1024 187 integral to membrane central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1) 49 AGGTGAAAAACCGCGCCGCTT 0.577000 17 37 0 0 1 0 0 ZDBF2 57683 broad.mit.edu 37 2 207171881 207171881 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:207171881C>T ENST00000374423.3 + 5 3015 c.2629C>T c.(2629-2631)Cat>Tat p.H877Y NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 877 nucleic acid binding|zinc ion binding endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 TTCGGATTCCCATGCCCCTCT 0.378000 18 48 0 0 1 0 0 USP29 57663 broad.mit.edu 37 19 57640145 57640145 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:57640145G>A ENST00000254181.4 + 4 556 c.102G>A c.(100-102)aaG>aaA p.K34K USP29_ENST00000598197.1_Silent_p.K34K NM_020903.2 NP_065954.1 Q9HBJ7 UBP29_HUMAN ubiquitin specific peptidase 29 34 protein modification process|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) AAAGACAAAAGGAAATTAAAC 0.353000 22 30 0 0 1 0 0 OR8H3 390152 broad.mit.edu 37 11 55890546 55890546 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:55890546G>A ENST00000313472.3 + 1 698 c.698G>A c.(697-699)gGa>gAa p.G233E NM_001005201.1 NP_001005201.1 Q8N146 OR8H3_HUMAN olfactory receptor, family 8, subfamily H, member 3 233 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1) 42 Esophageal squamous(21;0.00693) TCCACTTCAGGAAAGCAGAAA 0.398000 48 48 0 0 1 0 0 CHST1 8534 broad.mit.edu 37 11 45671279 45671279 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:45671279C>T ENST00000308064.2 - 4 1865 c.1195G>A c.(1195-1197)Gtc>Atc p.V399I NM_003654.5 NP_003645.1 O43916 CHST1_HUMAN carbohydrate (keratan sulfate Gal-6) sulfotransferase 1 399 galactose metabolic process|inflammatory response|keratan sulfate metabolic process Golgi membrane|integral to membrane keratan sulfotransferase activity breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 42 GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781) ACCAGGCTGACCGAGGGGTTC 0.662000 24 51 0 0 1 0 0 ASXL3 80816 broad.mit.edu 37 18 31324489 31324489 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr18:31324489C>T ENST00000269197.5 + 12 4677 c.4677C>T c.(4675-4677)ctC>ctT p.L1559L NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 1559 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 GCACAAGTCTCCGAGAATTAC 0.483000 OREG0024911 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 15 0 0 1 0 0 SCAP 22937 broad.mit.edu 37 3 47462202 47462202 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:47462202C>T ENST00000265565.5 - 12 1817 c.1405G>A c.(1405-1407)Gga>Aga p.G469R SCAP_ENST00000465628.1_5'UTR|SCAP_ENST00000441517.2_Missense_Mutation_p.G214R|SCAP_ENST00000545718.1_Missense_Mutation_p.G77R NM_012235.2 NP_036367.2 Q12770 SCAP_HUMAN SREBF chaperone 469 cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane unfolded protein binding endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 26 BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679) GTTGGCTGTCCCACTGGCTTG 0.652000 OREG0015548 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 25 40 0 0 1 0 0 SCML1 6322 broad.mit.edu 37 X 17771378 17771378 + Splice_Site SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:17771378G>A ENST00000380043.3 + 7 1103 c.774_splice c.e7-1 p.E259_splice SCML1_ENST00000398080.1_Splice_Site_p.E165_splice|SCML1_ENST00000380045.3_Splice_Site_p.E165_splice|SCML1_ENST00000380041.3_Splice_Site_p.E286_splice NM_006746.4 NP_006737.2 Q9UN30 SCML1_HUMAN sex comb on midleg-like 1 (Drosophila) 286 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) CTCTCCATAGGAAATTGACGG 0.423000 45 56 0 0 1 0 0 C5orf42 65250 broad.mit.edu 37 5 37107724 37107724 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:37107724G>A ENST00000274258.7 - 52 9855 c.6268C>T c.(6268-6270)Cac>Tac p.H2090Y C5orf42_ENST00000508244.1_Missense_Mutation_p.H3192Y|C5orf42_ENST00000425232.2_Missense_Mutation_p.H3192Y E9PH94 E9PH94_HUMAN chromosome 5 open reading frame 42 3192 breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 79 all_lung(31;0.000616) COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202) AGGGCCCAGTGGACAGACAGG 0.552000 4 22 0 0 1 0 0 RBP3 5949 broad.mit.edu 37 10 48389615 48389615 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:48389615G>A ENST00000224600.4 - 1 1376 c.1263C>T c.(1261-1263)atC>atT p.I421I NM_002900.2 NP_002891.1 P10745 RET3_HUMAN retinol binding protein 3, interstitial 421 4 X approximate tandem repeats. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Vitamin A(DB00162) GTGCTTGCCGGATAGCCTCGT 0.637000 21 40 0 0 1 0 0 C6orf118 168090 broad.mit.edu 37 6 165715439 165715439 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr6:165715439C>T ENST00000543069.1 - 2 641 c.60G>A c.(58-60)caG>caA p.Q20Q C6orf118_ENST00000230301.8_Silent_p.Q124Q Q5T5N4 CF118_HUMAN chromosome 6 open reading frame 118 124 breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 40 Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157) OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313) GCGGGGTGTCCTGGGCCTCAC 0.637000 43 24 0 0 1 0 0 GRAMD1B 57476 broad.mit.edu 37 11 123448163 123448163 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:123448163G>A ENST00000529750.1 + 2 439 c.112G>A c.(112-114)Gga>Aga p.G38R GRAMD1B_ENST00000456860.2_Missense_Mutation_p.G38R|GRAMD1B_ENST00000322282.7_Missense_Mutation_p.G38R NM_020716.1 NP_065767.1 Q3KR37 GRM1B_HUMAN GRAM domain containing 1B 38 integral to membrane NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 30 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394) GAACCAGGACGGAGACACCAT 0.682000 OREG0021454 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 10 0 0 1 0 0 AP5Z1 9907 broad.mit.edu 37 7 4830308 4830308 + Nonsense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:4830308G>A ENST00000348624.4 + 16 2037 c.1943G>A c.(1942-1944)tGg>tAg p.W648* AP5Z1_ENST00000490487.1_Intron NM_014855.2 NP_055670.1 O43299 K0415_HUMAN adaptor-related protein complex 5, zeta 1 subunit 648 cell death|double-strand break repair via homologous recombination cytoplasm|nucleus protein binding GCCTAGGTGTGGGCCATCGGC 0.647000 19 13 0 0 1 0 0 MYF5 4617 broad.mit.edu 37 12 81110921 81110921 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:81110921G>A ENST00000228644.3 + 1 231 c.79G>A c.(79-81)Gaa>Aaa p.E27K NM_005593.2 NP_005584.2 P13349 MYF5_HUMAN myogenic factor 5 27 muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development nucleoplasm DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1) 30 CCCCGAGGGTGAATTTGGGGA 0.622000 19 32 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10430364 10430364 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:10430364G>A ENST00000245503.5 - 29 4265 c.3881C>T c.(3880-3882)tCa>tTa p.S1294L MYH2_ENST00000397183.2_Missense_Mutation_p.S1294L|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000581304.1_RNA NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 1294 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 AAGCTGGCGTGAAAACTCACC 0.388000 22 35 0 0 1 0 0 DCDC1 341019 broad.mit.edu 37 11 30928163 30928163 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:30928163G>A ENST00000597505.1 - 28 4027 c.4028C>T c.(4027-4029)cCa>cTa p.P1343L DCDC1_ENST00000406071.2_Missense_Mutation_p.P78L|DCDC1_ENST00000339794.5_Missense_Mutation_p.P422L 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) ACAGAGGAATGGAACCCCTGG 0.463000 7 29 0 0 1 0 0 BCAT1 586 broad.mit.edu 37 12 24995057 24995057 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:24995057C>T ENST00000261192.7 - 7 1302 c.776G>A c.(775-777)gGa>gAa p.G259E BCAT1_ENST00000544418.1_5'UTR|BCAT1_ENST00000539282.1_Missense_Mutation_p.G271E|BCAT1_ENST00000538118.1_Missense_Mutation_p.G258E|BCAT1_ENST00000539780.1_Missense_Mutation_p.G222E|BCAT1_ENST00000342945.5_Missense_Mutation_p.G198E NM_001178091.1|NM_005504.6 NP_001171562.1|NP_005495.2 P54687 BCAT1_HUMAN branched chain amino-acid transaminase 1, cytosolic 259 branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle cytosol L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity breast(1)|large_intestine(1)|lung(3)|prostate(2) 7 Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196) Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114) ATTCATAGTTCCCACTTCAGT 0.423000 4 25 0 0 1 0 0 FNTA 2339 broad.mit.edu 37 8 42940390 42940390 + Missense_Mutation SNP A A T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:42940390A>T ENST00000529687.1 + 9 1540 c.652A>T c.(652-654)Aca>Tca p.T218S FNTA_ENST00000302279.3_Missense_Mutation_p.T369S|FNTA_ENST00000342116.4_Missense_Mutation_p.T302S P49354 FNTA_HUMAN farnesyltransferase, CAAX box, alpha 369 cellular component disassembly involved in apoptosis|positive regulation of deacetylase activity|positive regulation of tubulin deacetylation|protein farnesylation|protein geranylgeranylation|transforming growth factor beta receptor signaling pathway cytosol|microtubule associated complex alpha-tubulin binding|CAAX-protein geranylgeranyltransferase activity|microtubule binding|protein farnesyltransferase activity cervix(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1) 16 Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184) all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129) Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17) CAAACACAGCACAGAAAATGA 0.358000 18 31 0 0 1 0 0 IGSF11 152404 broad.mit.edu 37 3 118621622 118621622 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:118621622G>A ENST00000354673.2 - 9 1418 c.1038C>T c.(1036-1038)ttC>ttT p.F346F IGSF11_ENST00000425327.2_Silent_p.F346F|IGSF11_ENST00000393775.2_Silent_p.F347F|IGSF11_ENST00000491903.1_Silent_p.F319F|IGSF11_ENST00000441144.2_Silent_p.F322F|IGSF11_ENST00000489689.1_Silent_p.F323F NM_152538.2 NP_689751.2 Q5DX21 IGS11_HUMAN immunoglobulin superfamily, member 11 347 cell adhesion|regulation of growth integral to membrane|plasma membrane receptor activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 TGCCTGAGTGGAAAGAGAAAG 0.473000 52 81 0 0 1 0 0 LMO7 4008 broad.mit.edu 37 13 76395330 76395330 + Missense_Mutation SNP A A C TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr13:76395330A>C ENST00000357063.3 + 15 3641 c.2381A>C c.(2380-2382)aAg>aCg p.K794T LMO7_ENST00000341547.4_Missense_Mutation_p.K460T|LMO7_ENST00000465261.2_Missense_Mutation_p.K509T|LMO7_ENST00000321797.8_Missense_Mutation_p.K509T|LMO7_ENST00000526202.1_Missense_Mutation_p.K359T|LMO7_ENST00000377534.3_Missense_Mutation_p.K794T Q8WWI1 LMO7_HUMAN LIM domain 7 794 cytoplasm|nucleus|ubiquitin ligase complex ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 Breast(118;0.0992) GBM - Glioblastoma multiforme(99;0.0109) CAAAATCAAAAGTCTACAGTT 0.448000 24 29 0 0 1 0 0 MCM3AP 8888 broad.mit.edu 37 21 47678977 47678977 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr21:47678977G>A ENST00000397708.1 - 17 3864 c.3610C>T c.(3610-3612)Cgt>Tgt p.R1204C MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP_ENST00000291688.1_Missense_Mutation_p.R1204C|MCM3AP_ENST00000467026.1_5'UTR O60318 MCM3A_HUMAN minichromosome maintenance complex component 3 associated protein 1204 DNA replication|protein import into nucleus cytosol|nucleus DNA binding|nucleotide binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 72 Breast(49;0.112) CGGGCCACACGGACCCTCTGG 0.537000 5 85 0 0 1 0 0 UNC79 57578 broad.mit.edu 37 14 94044271 94044271 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr14:94044271G>A ENST00000553484.1 + 18 2449 c.2295G>A c.(2293-2295)cgG>cgA p.R765R UNC79_ENST00000256339.4_Silent_p.R588R|UNC79_ENST00000555664.1_Silent_p.R765R|UNC79_ENST00000393151.2_Silent_p.R765R Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 765 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 GTCCGTTTCGGAGTCCTTTGC 0.448000 55 124 0 0 1 0 0 DEDD2 162989 broad.mit.edu 37 19 42713945 42713945 + Missense_Mutation SNP C C A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:42713945C>A ENST00000595337.1 - 4 583 c.496G>T c.(496-498)Ggt>Tgt p.G166C DEDD2_ENST00000336034.4_Missense_Mutation_p.G161C|DEDD2_ENST00000598727.1_Missense_Mutation_p.G166C|DEDD2_ENST00000596251.1_Missense_Mutation_p.G166C|DEDD2_ENST00000593804.1_5'UTR NM_001270614.1 NP_001257543.1 Q8WXF8 DEDD2_HUMAN death effector domain containing 2 166 activation of pro-apoptotic gene products|apoptotic nuclear change|cellular homeostasis|induction of apoptosis via death domain receptors|intracellular signal transduction|negative regulation of transcription, DNA-dependent|RNA processing|rRNA catabolic process|transcription, DNA-dependent nucleolus DNA binding|receptor signaling complex scaffold activity endometrium(1)|large_intestine(1)|ovary(1)|prostate(2) 5 Prostate(69;0.0704) CTGGCACCACCACTGGGCCGG 0.667000 29 51 2.65835e-16 2.70449e-16 1 1 0 PCYT1A 5130 broad.mit.edu 37 3 195997311 195997311 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:195997311G>A ENST00000292823.2 - 3 264 c.92C>T c.(91-93)cCt>cTt p.P31L PCYT1A_ENST00000491544.1_5'UTR|PCYT1A_ENST00000431016.1_Missense_Mutation_p.P31L|PCYT1A_ENST00000419333.1_Missense_Mutation_p.P31L NM_005017.2 NP_005008.2 P49585 PCY1A_HUMAN phosphate cytidylyltransferase 1, choline, alpha 31 cytosol|soluble fraction choline-phosphate cytidylyltransferase activity cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1) 18 all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00259) Choline(DB00122) CACTTTGGAAGGAACCCCATC 0.498000 101 196 0 0 1 0 0 KIAA0319L 79932 broad.mit.edu 37 1 35944661 35944661 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:35944661G>A ENST00000325722.3 - 4 1053 c.819C>T c.(817-819)acC>acT p.T273T NM_024874.4 NP_079150.3 Q8IZA0 K319L_HUMAN KIAA0319-like 273 cytoplasmic vesicle part|integral to membrane protein binding breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1) 34 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) CAGCAATCTGGGTTTTCTCAG 0.527000 28 26 0 0 1 0 0 SEC14L1 6397 broad.mit.edu 37 17 75199690 75199690 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:75199690G>A ENST00000413679.2 + 10 1351 c.1048G>A c.(1048-1050)Gac>Aac p.D350N SEC14L1_ENST00000430767.4_Missense_Mutation_p.D350N|SEC14L1_ENST00000443798.4_Missense_Mutation_p.D350N|SEC14L1_ENST00000585618.1_Missense_Mutation_p.D350N|SEC14L1_ENST00000436233.4_Missense_Mutation_p.D350N|SEC14L1_ENST00000431431.2_Missense_Mutation_p.D316N|SEC14L1_ENST00000392476.2_Missense_Mutation_p.D350N|SEC14L1_ENST00000591437.1_Missense_Mutation_p.D316N NM_001143998.1|NM_001143999.1|NM_003003.3 NP_001137470.1|NP_001137471.1|NP_002994.3 Q92503 S14L1_HUMAN SEC14-like 1 (S. cerevisiae) 350 CRAL-TRIO. transport Golgi apparatus|integral to membrane binding NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2) 31 GGGGCAGATGGACACCAAAGG 0.582000 6 15 0 0 1 0 0 PLB1 151056 broad.mit.edu 37 2 28826894 28826894 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:28826894G>A ENST00000422425.2 + 39 2847 c.2803G>A c.(2803-2805)Gcc>Acc p.A935T PLB1_ENST00000541605.1_Intron|PLB1_ENST00000327757.5_Missense_Mutation_p.A946T NM_001170585.1 NP_001164056.1 Q6P1J6 PLB1_HUMAN phospholipase B1 946 4 X 308-326 AA approximate repeats. lipid catabolic process|retinoid metabolic process|steroid metabolic process apical plasma membrane|integral to membrane lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2) 69 Acute lymphoblastic leukemia(172;0.155) CAGGCTGGAGGCCTTCAGCCG 0.607000 26 35 0 0 1 0 0 THOC2 57187 broad.mit.edu 37 X 122755258 122755258 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:122755258C>T ENST00000245838.8 - 31 3997 c.3966G>A c.(3964-3966)ccG>ccA p.P1322P THOC2_ENST00000491737.1_Silent_p.P1207P|THOC2_ENST00000355725.4_Silent_p.P1322P NM_001081550.1 NP_001075019.1 Q8NI27 THOC2_HUMAN THO complex 2 1322 Lys-rich. intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing THO complex part of transcription export complex protein binding|RNA binding breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3) 63 TGTCAGACTTCGGCGTTCTTT 0.403000 64 85 0 0 1 0 0 RPTOR 57521 broad.mit.edu 37 17 78899198 78899198 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:78899198G>A ENST00000306801.3 + 24 3199 c.2837G>A c.(2836-2838)gGa>gAa p.G946E RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Missense_Mutation_p.G788E NM_020761.2 NP_065812.1 Q8N122 RPTOR_HUMAN regulatory associated protein of MTOR, complex 1 946 cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade cytosol|lysosome|TORC1 complex protein complex binding breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3) 44 GATGCTGCTGGACACAAAAGT 0.582000 18 32 0 0 1 0 0 ZNF770 54989 broad.mit.edu 37 15 35274541 35274541 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr15:35274541G>A ENST00000356321.4 - 3 1439 c.1095C>T c.(1093-1095)ttC>ttT p.F365F NM_014106.3 NP_054825.2 Q6IQ21 ZN770_HUMAN zinc finger protein 770 365 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1) 29 Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09) all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643) AATTTCTCAAGAAACTCTTTT 0.328000 6 17 0 0 1 0 0 LRRC37A6P 387646 broad.mit.edu 37 10 27535443 27535443 + RNA SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:27535443C>T ENST00000574842.1 + 0 255 GACTTCTGCTCTTTCTGTTCA 0.423000 34 44 0 0 1 0 0 RHBDD2 57414 broad.mit.edu 37 7 75513015 75513015 + Splice_Site SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:75513015G>A ENST00000318622.4 + 4 792 c.e4-1 RHBDD2_ENST00000468304.1_Intron|RHBDD2_ENST00000428119.1_Splice_Site|RHBDD2_ENST00000006777.6_Splice_Site NM_001040457.1 NP_001035547.1 Q6NTF9 RHBD2_HUMAN rhomboid domain containing 2 integral to membrane serine-type endopeptidase activity kidney(1)|lung(4)|prostate(1) 6 GCCAACCTCAGATGGCCTCAC 0.557000 101 72 0 0 1 0 0 WDR11 55717 broad.mit.edu 37 10 122630711 122630711 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:122630711C>T ENST00000263461.6 + 10 1570 c.1324C>T c.(1324-1326)Ccc>Tcc p.P442S NM_018117.11 NP_060587.8 Q9BZH6 WDR11_HUMAN WD repeat domain 11 442 integral to membrane breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5) 38 GGAAGAACATCCCAGAGGTTC 0.423000 18 22 0 0 1 0 0 C4orf29 80167 broad.mit.edu 37 4 128951758 128951758 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr4:128951758C>T ENST00000388795.5 + 12 1431 c.1028C>T c.(1027-1029)cCt>cTt p.P343L C4orf29_ENST00000444616.1_Missense_Mutation_p.P391L|C4orf29_ENST00000398965.1_Missense_Mutation_p.P391L Q0P651 CD029_HUMAN chromosome 4 open reading frame 29 391 extracellular region breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1) 8 GAAATTTGGCCTGGTTGTGAA 0.408000 8 41 0 0 1 0 0 PSMD12 5718 broad.mit.edu 37 17 65346399 65346399 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:65346399G>A ENST00000356126.3 - 4 458 c.351C>T c.(349-351)gaC>gaT p.D117D PSMD12_ENST00000581618.1_5'UTR|PSMD12_ENST00000357146.4_Silent_p.D97D NM_002816.3 NP_002807.1 O00232 PSD12_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 12 117 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction proteasome regulatory particle protein binding breast(1)|large_intestine(4)|lung(6)|pancreas(1)|urinary_tract(1) 13 all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13) TGATAGGAAGGTCTGTGATTT 0.333000 13 24 0 0 1 0 0 GUCY2D 3000 broad.mit.edu 37 17 7907313 7907313 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:7907313C>T ENST00000254854.4 + 3 1015 c.865C>T c.(865-867)Ccg>Tcg p.P289S NM_000180.3 NP_000171.1 Q02846 GUC2D_HUMAN guanylate cyclase 2D, membrane (retina-specific) 289 intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity skin(1) 1 Prostate(122;0.157) GTCCCCAGGCCCGGAGGCCTT 0.682000 89 29 0 0 1 0 0 TERF1 7013 broad.mit.edu 37 8 73958353 73958353 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:73958353C>T ENST00000276602.6 + 9 1264 c.1241C>T c.(1240-1242)tCc>tTc p.S414F TERF1_ENST00000276603.5_Missense_Mutation_p.S434F NM_003218.3 NP_003209.2 P54274 TERF1_HUMAN telomeric repeat binding factor (NIMA-interacting) 1 434 HTH myb-type. age-dependent telomere shortening|cell division|G2/M transition of mitotic cell cycle|induction of apoptosis|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of telomere maintenance via semi-conservative replication|negative regulation of telomere maintenance via telomerase|positive regulation of microtubule polymerization|positive regulation of mitosis|positive regulation of mitotic cell cycle|protein homooligomerization|regulation of transcription, DNA-dependent|telomere maintenance via telomerase|telomere maintenance via telomere shortening chromosome, telomeric region|cytoplasm|nuclear telomere cap complex|nucleoplasm|nucleus|spindle caspase activator activity|DNA bending activity|double-stranded telomeric DNA binding|identical protein binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|telomerase inhibitor activity|telomeric DNA binding central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 9 Breast(64;0.218) Epithelial(68;0.0984) AAACTGATTTCCTCAGACAGC 0.353000 17 45 0 0 1 0 0 STK36 27148 broad.mit.edu 37 2 219563390 219563390 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:219563390C>T ENST00000295709.3 + 26 3402 c.3123C>T c.(3121-3123)gcC>gcT p.A1041A STK36_ENST00000392105.3_Silent_p.A1020A|STK36_ENST00000392106.2_Silent_p.A1020A|STK36_ENST00000440309.1_Silent_p.A1041A NM_015690.4 NP_056505.2 Q9NRP7 STK36_HUMAN serine/threonine kinase 36 1041 cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus ATP binding|protein serine/threonine kinase activity|transcription factor binding biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 52 Renal(207;0.0915) Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984) CACGCCTGGCCCTCATGGATC 0.547000 84 33 0 0 1 0 0 PNN 5411 broad.mit.edu 37 14 39647066 39647066 + Missense_Mutation SNP G G T rs1138657 TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr14:39647066G>T ENST00000216832.4 + 6 511 c.444G>T c.(442-444)ttG>ttT p.L148F PNN_ENST00000553331.1_Missense_Mutation_p.V117F NM_002687.3 NP_002678.2 Q9H307 PININ_HUMAN pinin, desmosome associated protein 148 Necessary for interaction with RNPS1.|Necessary for mediating alternative 5' splicing. cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck DNA binding|protein binding|structural molecule activity breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1) 27 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711) GBM - Glioblastoma multiforme(112;0.0119) TATTTGGCTTGTTGATGGGTA 0.318000 113 195 2.68169e-52 2.74748e-52 1 1 0 COL9A3 1299 broad.mit.edu 37 20 61468563 61468563 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr20:61468563G>A ENST00000343916.3 + 30 1735 c.1732G>A c.(1732-1734)Gga>Aga p.G578R COL9A3_ENST00000462700.1_3'UTR NM_001853.3 NP_001844.3 Q14050 CO9A3_HUMAN collagen, type IX, alpha 3 578 Triple-helical region 2 (COL2). axon guidance collagen type IX breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 Breast(26;5.68e-08) TGGCGCTCGAGGACCCCCTGG 0.677000 33 56 0 0 1 0 0 MACC1 346389 broad.mit.edu 37 7 20198464 20198464 + Missense_Mutation SNP G G T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:20198464G>T ENST00000400331.5 - 5 1828 c.1520C>A c.(1519-1521)cCa>cAa p.P507Q MACC1_ENST00000332878.4_Missense_Mutation_p.P507Q|MACC1_ENST00000589011.1_Missense_Mutation_p.P507Q NM_182762.3 NP_877439.3 Q6ZN28 MACC1_HUMAN metastasis associated in colon cancer 1 507 positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane growth factor activity endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1) 39 GTTTGGGGTTGGATCAGGAGT 0.413000 42 84 3.77016e-25 3.85438e-25 1 1 0 KIF1A 547 broad.mit.edu 37 2 241710442 241710442 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:241710442G>A ENST00000498729.2 - 15 1533 c.1287C>T c.(1285-1287)ctC>ctT p.L429L KIF1A_ENST00000320389.7_Silent_p.L420L NM_001244008.1 NP_001230937.1 Q12756 KIF1A_HUMAN kinesin family member 1A 420 anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 66 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) TGCGCTCGTGGAGGCTGGACA 0.647000 26 13 0 0 1 0 0 PHLPP2 23035 broad.mit.edu 37 16 71736621 71736621 + Missense_Mutation SNP T T C TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr16:71736621T>C ENST00000393524.2 - 2 1031 c.298A>G c.(298-300)Act>Gct p.T100A PHLPP2_ENST00000567016.1_Missense_Mutation_p.T135A|PHLPP2_ENST00000360429.3_Missense_Mutation_p.T100A|PHLPP2_ENST00000568954.1_Missense_Mutation_p.T100A|PHLPP2_ENST00000356272.3_Missense_Mutation_p.T100A Q6ZVD8 PHLP2_HUMAN PH domain and leucine rich repeat protein phosphatase 2 100 cytoplasm|membrane|nucleus metal ion binding|phosphoprotein phosphatase activity central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1) 37 GGTCGTTCAGTAGGTTCCAGT 0.343000 23 46 0 0 1 0 0 MUC5AC 4586 broad.mit.edu 37 11 1157576 1157576 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:1157576C>T ENST00000356191.2 + 12 747 c.747C>T c.(745-747)tcC>tcT p.S249S mucin 5AC, oligomeric mucus/gel-forming NS(1)|breast(2)|central_nervous_system(7)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(5)|kidney(9)|large_intestine(19)|liver(1)|lung(89)|ovary(7)|prostate(8)|skin(9)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 203 all_cancers(49;2.94e-05)|Breast(177;0.00257)|all_epithelial(84;0.00314)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.00146)|Lung(200;0.0612)|LUSC - Lung squamous cell carcinoma(625;0.0724) GGACCCTGTCCCTGAACCCCC 0.622000 11 17 0 0 1 0 0 EPHA10 284656 broad.mit.edu 37 1 38227500 38227500 + Missense_Mutation SNP G G A rs45567442 TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:38227500G>A ENST00000373048.4 - 3 426 c.427C>T c.(427-429)Cgc>Tgc p.R143C EPHA10_ENST00000427468.2_Missense_Mutation_p.R143C|EPHA10_ENST00000319637.6_Missense_Mutation_p.R143C NM_001099439.1 NP_001092909.1 Q5JZY3 EPHAA_HUMAN EPH receptor A10 143 extracellular region|integral to membrane|integral to plasma membrane ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) CCGCCTAGGCGGGGACGCCCA 0.657000 18 57 0 0 1 0 0 SLITRK6 84189 broad.mit.edu 37 13 86370632 86370632 + Nonsense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr13:86370632C>T ENST00000400286.2 - 2 610 c.12G>A c.(10-12)tgG>tgA p.W4* NM_032229.2 NP_115605.2 Q9H5Y7 SLIK6_HUMAN SLIT and NTRK-like family, member 6 4 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_neural(89;0.117)|Medulloblastoma(90;0.163) GBM - Glioblastoma multiforme(99;0.0456) AGAGATGAATCCACAGCTTCA 0.423000 18 34 0 0 1 0 0 ANKRD53 79998 broad.mit.edu 37 2 71206395 71206395 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:71206395C>T ENST00000272421.6 + 2 605 c.339C>T c.(337-339)ttC>ttT p.F113F ANKRD53_ENST00000441349.1_Silent_p.F79F|ANKRD53_ENST00000360589.3_Silent_p.F113F|ANKRD53_ENST00000457410.1_Silent_p.F79F|AC007040.11_ENST00000606025.1_Intron NM_024933.3 NP_079209.3 Q8N9V6 ANR53_HUMAN ankyrin repeat domain 53 113 endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 11 ACCAGCTGTTCGCAGCGGCTG 0.637000 53 68 0 0 1 0 0 PCYOX1L 78991 broad.mit.edu 37 5 148747966 148747966 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:148747966C>T ENST00000514349.1 + 5 1543 c.964C>T c.(964-966)Cgt>Tgt p.R322C PCYOX1L_ENST00000274569.4_Missense_Mutation_p.R412C Q8NBM8 PCYXL_HUMAN prenylcysteine oxidase 1 like 412 prenylcysteine catabolic process extracellular region oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 11 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GACCCTGTTCCGTTCCTATTA 0.607000 54 82 0 0 1 0 0 ATP7A 538 broad.mit.edu 37 X 77258710 77258710 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:77258710G>A ENST00000341514.6 + 6 1839 c.1684G>A c.(1684-1686)Gga>Aga p.G562R ATP7A_ENST00000343533.5_Missense_Mutation_p.G562R|ATP7A_ENST00000350425.4_Intron NM_000052.5 NP_000043.3 Q04656 ATP7A_HUMAN ATPase, Cu++ transporting, alpha polypeptide 562 ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1) 53 TGCTGATGAAGGAGATGGTGT 0.368000 86 109 0 0 1 0 0 SLC9C1 285335 broad.mit.edu 37 3 111918276 111918276 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:111918276C>T ENST00000305815.5 - 20 2667 c.2415G>A c.(2413-2415)gtG>gtA p.V805V SLC9C1_ENST00000487372.1_Silent_p.V757V NM_183061.1 NP_898884.1 Q4G0N8 S9A10_HUMAN solute carrier family 9, subfamily C (Na+-transporting carboxylic acid decarboxylase), member 1 805 cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis cilium|flagellar membrane|integral to membrane solute:hydrogen antiporter activity CCTTTGTTTTCACAGTGACAG 0.289000 17 29 0 0 1 0 0 OR10AD1 121275 broad.mit.edu 37 12 48596795 48596795 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:48596795G>A ENST00000310248.2 - 1 375 c.281C>T c.(280-282)tCc>tTc p.S94F NM_001004134.1 NP_001004134.1 Q8NGE0 O10AD_HUMAN olfactory receptor, family 10, subfamily AD, member 1 94 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|urinary_tract(1) 9 ACATACAAAGGAGACAATGTG 0.498000 15 19 0 0 1 0 0 FLNA 2316 broad.mit.edu 37 X 153586662 153586662 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:153586662C>T ENST00000422373.1 - 28 4908 c.4660G>A c.(4660-4662)Ggg>Agg p.G1554R FLNA_ENST00000369850.3_Missense_Mutation_p.G1554R|FLNA_ENST00000360319.4_Missense_Mutation_p.G1554R|FLNA_ENST00000344736.4_Missense_Mutation_p.G1554R NM_001456.3 NP_001447.2 P21333 FLNA_HUMAN filamin A, alpha 1554 Interaction with furin (By similarity). actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GTGTTGAGCCCGGGGCCACTG 0.617000 18 31 0 0 1 0 0 KLHL34 257240 broad.mit.edu 37 X 21675713 21675713 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:21675713G>A ENST00000379499.2 - 1 735 c.194C>T c.(193-195)tCc>tTc p.S65F NM_153270.1 NP_695002.1 Q8N239 KLH34_HUMAN kelch-like family member 34 65 BTB. cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1) 26 GCGCGCCCGGGATTCCTGGGT 0.642000 12 14 0 0 1 0 0 SMARCE1 6605 broad.mit.edu 37 17 38793756 38793756 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:38793756C>T ENST00000348513.6 - 5 1005 c.225G>A c.(223-225)agG>agA p.R75R SMARCE1_ENST00000544009.1_Silent_p.R5R|SMARCE1_ENST00000580419.1_Silent_p.R40R|SMARCE1_ENST00000578044.1_Silent_p.R5R|KRT222_ENST00000476049.1_Intron|SMARCE1_ENST00000400122.3_Silent_p.R5R|SMARCE1_ENST00000377808.4_Silent_p.R40R|SMARCE1_ENST00000431889.2_Silent_p.R57R NM_003079.4 NP_003070.3 Q969G3 SMCE1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 75 chromatin modification|negative regulation of transcription, DNA-dependent|nervous system development|nucleosome disassembly|regulation of transcription from RNA polymerase II promoter nBAF complex|npBAF complex|nuclear chromosome|SWI/SNF complex|transcriptional repressor complex chromatin binding|DNA binding|N-acetyltransferase activity|protein binding|protein N-terminus binding|transcription coactivator activity large_intestine(1) 1 Breast(137;0.000812) TTCTGCTGTACCTCATGTAGG 0.458000 46 61 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72822417 72822417 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr16:72822417G>A ENST00000268489.5 - 10 10430 c.9758C>T c.(9757-9759)cCc>cTc p.P3253L ZFHX3_ENST00000397992.5_Missense_Mutation_p.P2339L NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 3253 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) GACAGGCAGGGGTTCCCCTTT 0.582000 67 128 0 0 1 0 0 CD22 933 broad.mit.edu 37 19 35836539 35836539 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:35836539C>T ENST00000085219.5 + 12 2309 c.2243C>T c.(2242-2244)tCc>tTc p.S748F CD22_ENST00000536635.2_Missense_Mutation_p.S660F|CD22_ENST00000341773.6_Missense_Mutation_p.S571F|CD22_ENST00000270311.6_Intron|CD22_ENST00000419549.2_Missense_Mutation_p.S576F|CD22_ENST00000544992.2_Intron|CD22_ENST00000594250.1_Missense_Mutation_p.S571F NM_001771.3 NP_001762.2 P20273 CD22_HUMAN CD22 molecule 748 cell adhesion protein binding|sugar binding breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 54 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417) OspA lipoprotein(DB00045) GGCCCCCACTCCCTGGGATGC 0.577000 31 38 0 0 1 0 0 RREB1 6239 broad.mit.edu 37 6 7230907 7230907 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr6:7230907C>T ENST00000379938.2 + 10 3112 c.2575C>T c.(2575-2577)Ctc>Ttc p.L859F RREB1_ENST00000334984.6_Missense_Mutation_p.L859F|RREB1_ENST00000349384.6_Missense_Mutation_p.L859F|RREB1_ENST00000379933.3_Missense_Mutation_p.L859F NM_001003699.3|NM_001003700.1 NP_001003699.1|NP_001003700.1 Q92766 RREB1_HUMAN ras responsive element binding protein 1 859 multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter cytoplasm|nuclear speck DNA binding|zinc ion binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) CTGCAAGCCCCTCACTGCCTT 0.701000 8 13 0 0 1 0 0 PRSS36 146547 broad.mit.edu 37 16 31157262 31157262 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr16:31157262G>A ENST00000268281.4 - 6 626 c.568C>T c.(568-570)Ccc>Tcc p.P190S PRSS36_ENST00000569305.1_Missense_Mutation_p.P190S|PRSS36_ENST00000418068.2_Missense_Mutation_p.P190S NM_001258290.1|NM_173502.4 NP_001245219.1|NP_775773.2 Q5K4E3 POLS2_HUMAN protease, serine, 36 190 Peptidase S1 1. proteolysis cytoplasm|proteinaceous extracellular matrix serine-type endopeptidase activity kidney(2)|large_intestine(4)|lung(8)|ovary(3) 17 AGCACCCAGGGGAGAGGCAGA 0.597000 18 13 0 0 1 0 0 PHLDB2 90102 broad.mit.edu 37 3 111564747 111564747 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:111564747C>T ENST00000393923.3 + 2 287 c.32C>T c.(31-33)cCc>cTc p.P11L PLCXD2_ENST00000393934.3_3'UTR|PLCXD2_ENST00000477665.1_3'UTR NM_001134437.1 NP_001127909.1 Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, member 2 0 cytoplasm|intermediate filament cytoskeleton|plasma membrane breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1) 55 AGAGAGGTGCCCAAGGAAGAT 0.433000 33 52 0 0 1 0 0 PLD4 122618 broad.mit.edu 37 14 105395239 105395239 + Missense_Mutation SNP C C A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr14:105395239C>A ENST00000540372.1 + 4 651 c.459C>A c.(457-459)gaC>gaA p.D153E PLD4_ENST00000392593.4_Missense_Mutation_p.D146E Q96BZ4 PLD4_HUMAN phospholipase D family, member 4 146 lipid catabolic process integral to membrane NAPE-specific phospholipase D activity|phospholipase D activity central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 13 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116) Choline(DB00122) CAGGGCCTGACATCGGGGTCA 0.647000 17 37 1.99824e-07 2.01148e-07 1 1 0 PRDM16 63976 broad.mit.edu 37 1 3328624 3328624 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:3328624G>A ENST00000378398.3 + 10 1948 c.1866G>A c.(1864-1866)acG>acA p.T622T PRDM16_ENST00000442529.2_Silent_p.T621T|PRDM16_ENST00000514189.1_Silent_p.T622T|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000511072.1_Silent_p.T622T|PRDM16_ENST00000378391.2_Silent_p.T621T|PRDM16_ENST00000270722.5_Silent_p.T621T|PRDM16_ENST00000441472.2_Silent_p.T621T Q9HAZ2 PRD16_HUMAN PR domain containing 16 621 brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent transcriptional repressor complex protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3) 59 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) CCACGGGGACGGGCTCGGACC 0.657000 T EVI1 """MDS, AML""" 27 64 0 0 1 0 0 CEACAM18 729767 broad.mit.edu 37 19 51983645 51983645 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:51983645C>T ENST00000396477.4 + 2 132 c.111C>T c.(109-111)acC>acT p.T37T CEACAM18_ENST00000451626.1_Silent_p.T98T NM_001278392.1 NP_001265321.1 A8MTB9 CEA18_HUMAN carcinoembryonic antigen-related cell adhesion molecule 18 98 integral to membrane breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1) 17 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) TCACCCAAACCCTGGGGATCA 0.527000 4 10 0 0 1 0 0 FDFT1 2222 broad.mit.edu 37 8 11687925 11687925 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:11687925C>T ENST00000220584.4 + 6 1097 c.875C>T c.(874-876)cCa>cTa p.P292L FDFT1_ENST00000525900.1_Missense_Mutation_p.P285L|FDFT1_ENST00000525777.1_Missense_Mutation_p.P207L|FDFT1_ENST00000446331.2_3'UTR|FDFT1_ENST00000443614.2_Missense_Mutation_p.P249L|FDFT1_ENST00000538689.1_Missense_Mutation_p.P181L|FDFT1_ENST00000528643.1_Missense_Mutation_p.P207L|FDFT1_ENST00000530664.1_Missense_Mutation_p.P228L|FDFT1_ENST00000528812.1_Missense_Mutation_p.P228L NM_004462.3 NP_004453.3 P37268 FDFT_HUMAN farnesyl-diphosphate farnesyltransferase 1 292 cholesterol biosynthetic process|isoprenoid biosynthetic process endoplasmic reticulum membrane|integral to membrane farnesyl-diphosphate farnesyltransferase activity|oxidoreductase activity|protein binding|squalene synthase activity breast(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2) 12 all_epithelial(15;0.234) STAD - Stomach adenocarcinoma(15;0.00225) COAD - Colon adenocarcinoma(149;0.18) TGTGCTATTCCACAGGTAGGG 0.478000 19 54 0 0 1 0 0 GALR3 8484 broad.mit.edu 37 22 38219451 38219451 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr22:38219451G>A ENST00000249041.2 + 1 63 c.38G>A c.(37-39)gGg>gAg p.G13E NM_003614.1 NP_003605.1 O60755 GALR3_HUMAN galanin receptor 3 13 feeding behavior|learning or memory|negative regulation of adenylate cyclase activity integral to membrane|plasma membrane galanin receptor activity endometrium(1)|liver(2)|lung(1) 4 Melanoma(58;0.045) GACAGCCCAGGGAGTGTGGGG 0.617000 33 51 0 0 1 0 0 RNF111 54778 broad.mit.edu 37 15 59359174 59359174 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr15:59359174C>T ENST00000348370.4 + 6 2011 c.1578C>T c.(1576-1578)gtC>gtT p.V526V RNF111_ENST00000557998.1_Silent_p.V526V|RNF111_ENST00000561186.1_Silent_p.V526V|RNF111_ENST00000559209.1_Silent_p.V526V|RNF111_ENST00000434298.1_Silent_p.V526V NM_001270528.1|NM_001270529.1|NM_017610.7 NP_001257457.1|NP_001257458.1|NP_060080.6 Q6ZNA4 RN111_HUMAN ring finger protein 111 526 multicellular organismal development|positive regulation of transcription, DNA-dependent cytoplasm|nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all cancers(107;0.194) ACCCAGCTGTCCCAGTTTCTC 0.488000 36 56 0 0 1 0 0 DOPEY1 23033 broad.mit.edu 37 6 83829546 83829546 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr6:83829546C>T ENST00000349129.2 + 9 1220 c.960C>T c.(958-960)ttC>ttT p.F320F DOPEY1_ENST00000536812.1_3'UTR|DOPEY1_ENST00000369739.3_Silent_p.F311F|DOPEY1_ENST00000237163.5_Silent_p.F311F NM_015018.3 NP_055833.2 Q5JWR5 DOP1_HUMAN dopey family member 1 320 protein transport breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 67 all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203) BRCA - Breast invasive adenocarcinoma(397;0.053) CTTACTATTTCACTACCTTTT 0.363000 25 21 0 0 1 0 0 PLCH1 23007 broad.mit.edu 37 3 155199305 155199305 + Nonsense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:155199305G>A ENST00000460012.1 - 23 4777 c.4420C>T c.(4420-4422)Cag>Tag p.Q1474* PLCH1_ENST00000414191.1_Nonsense_Mutation_p.Q1474*|PLCH1_ENST00000334686.6_Nonsense_Mutation_p.Q1474*|PLCH1_ENST00000340059.7_Nonsense_Mutation_p.Q1512*|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000494598.1_Intron Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 1512 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) CTAATACACTGGTACTTGCTC 0.453000 25 40 0 0 1 0 0 SRBD1 55133 broad.mit.edu 37 2 45829214 45829214 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:45829214G>A ENST00000263736.4 - 3 151 c.89C>T c.(88-90)gCc>gTc p.A30V NM_018079.4 NP_060549.4 Q8N5C6 SRBD1_HUMAN S1 RNA binding domain 1 30 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process hydrolase activity, acting on ester bonds|RNA binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1) 49 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154) TTCTTCAGAGGCAGATGATCT 0.398000 23 59 0 0 1 0 0 DICER1 23405 broad.mit.edu 37 14 95592951 95592951 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr14:95592951G>A ENST00000526495.1 - 9 1160 c.869C>T c.(868-870)tCa>tTa p.S290L DICER1_ENST00000343455.3_Missense_Mutation_p.S290L|DICER1_ENST00000527414.1_Missense_Mutation_p.S290L|DICER1_ENST00000393063.1_Missense_Mutation_p.S290L|DICER1_ENST00000541352.1_Missense_Mutation_p.S290L Q9UPY3 DICER_HUMAN dicer 1, ribonuclease type III 290 Required for interaction with PRKRA and TARBP2. negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference cytosol|RNA-induced silencing complex ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3) 75 all_cancers(154;0.0621)|all_epithelial(191;0.223) Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215) TCTTTCTTTTGAATGTACAGA 0.289000 """Mis F, N""" """sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma""" pleuropulmonary blastoma Familial Multinodular Goiter ;DICER 1 syndrome 33 49 0 0 1 0 0 PLCH1 23007 broad.mit.edu 37 3 155200384 155200384 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:155200384G>A ENST00000460012.1 - 23 3698 c.3341C>T c.(3340-3342)tCt>tTt p.S1114F PLCH1_ENST00000414191.1_Missense_Mutation_p.S1114F|PLCH1_ENST00000334686.6_Missense_Mutation_p.S1114F|PLCH1_ENST00000340059.7_Missense_Mutation_p.S1152F|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000494598.1_Intron Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 1152 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) GTCTGACAAAGAAAAGGATGT 0.443000 24 40 0 0 1 0 0 USP11 8237 broad.mit.edu 37 X 47092374 47092374 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:47092374G>A ENST00000218348.3 + 1 61 c.61G>A c.(61-63)Gaa>Aaa p.E21K USP11_ENST00000377107.2_5'UTR NM_004651.3 NP_004642.2 P51784 UBP11_HUMAN ubiquitin specific peptidase 11 21 protein deubiquitination|ubiquitin-dependent protein catabolic process cytoplasm|nucleus cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1) 40 CCAGAATCCGGAAGTGGCTGT 0.612000 25 62 0 0 1 0 0 SLC22A15 55356 broad.mit.edu 37 1 116562275 116562275 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:116562275G>A ENST00000369503.4 + 3 503 c.373G>A c.(373-375)Gga>Aga p.G125R SLC22A15_ENST00000369502.1_Missense_Mutation_p.G125R NM_018420.2 NP_060890.2 Q8IZD6 S22AF_HUMAN solute carrier family 22, member 15 125 ion transport integral to membrane transmembrane transporter activity endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1) 17 Lung SC(450;0.184) all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05) Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12) TGTATTTGTTGGAGTTATCTC 0.383000 10 10 0 0 1 0 0 SASH1 23328 broad.mit.edu 37 6 148867169 148867169 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr6:148867169C>T ENST00000367467.3 + 19 3842 c.3367C>T c.(3367-3369)Cct>Tct p.P1123S NM_015278.3 NP_056093.3 O94885 SASH1_HUMAN SAM and SH3 domain containing 1 1123 protein binding breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Ovarian(120;0.0169) OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701) CTGTGGGATTCCTGAAGCCCT 0.522000 24 19 0 0 1 0 0 DBNDD1 79007 broad.mit.edu 37 16 90072751 90072751 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr16:90072751C>T ENST00000392973.3 - 3 1218 c.487G>A c.(487-489)Gag>Aag p.E163K DBNDD1_ENST00000568838.1_Missense_Mutation_p.E277K|DBNDD1_ENST00000002501.6_Missense_Mutation_p.E157K|DBNDD1_ENST00000304733.3_Missense_Mutation_p.E177K Q9H9R9 DBND1_HUMAN dysbindin (dystrobrevin binding protein 1) domain containing 1 157 cytoplasm kidney(1)|large_intestine(1)|lung(1) 3 all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0275) GTCTAGTCCTCCTGGGGCCTC 0.642000 11 8 0 0 1 0 0 RERE 473 broad.mit.edu 37 1 8418746 8418746 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:8418746G>A ENST00000337907.3 - 21 4483 c.3849C>T c.(3847-3849)ccC>ccT p.P1283P RERE_ENST00000400907.2_Intron|RERE_ENST00000377464.1_Silent_p.P1015P|RERE_ENST00000400908.2_Silent_p.P1283P|RERE_ENST00000476556.1_Silent_p.P729P NM_012102.3 NP_036234.3 Q9P2R6 RERE_HUMAN arginine-glutamic acid dipeptide (RE) repeats 1283 multicellular organismal development|NLS-bearing substrate import into nucleus mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) AGGCCAGCAGGGGGTCCGTGG 0.672000 21 33 0 0 1 0 0 CORO1B 57175 broad.mit.edu 37 11 67207899 67207899 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:67207899C>T ENST00000393893.1 - 8 871 c.768G>A c.(766-768)gaG>gaA p.E256E CORO1B_ENST00000341356.5_Silent_p.E256E NM_001018070.2 NP_001018080.1 Q9BR76 COR1B_HUMAN coronin, actin binding protein, 1B 256 actin cytoskeleton organization actin cytoskeleton|cytoplasm actin filament binding cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1) 13 BRCA - Breast invasive adenocarcinoma(15;3.26e-06) CCATGGGTTCCTCGAGGTTTT 0.627000 15 39 0 0 1 0 0 ZNF512 84450 broad.mit.edu 37 2 27823642 27823642 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:27823642C>T ENST00000355467.4 + 6 625 c.542C>T c.(541-543)aCc>aTc p.T181I ZNF512_ENST00000556601.1_Intron|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000379717.1_Missense_Mutation_p.T180I|ZNF512_ENST00000416005.2_Missense_Mutation_p.T152I|ZNF512_ENST00000413371.2_Missense_Mutation_p.T104I Q96ME7 ZN512_HUMAN zinc finger protein 512 181 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 Acute lymphoblastic leukemia(172;0.155) GGGAGGAAGACCATAGAGGGT 0.423000 31 47 0 0 1 0 0 DALRD3 55152 broad.mit.edu 37 3 49054727 49054727 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:49054727C>T ENST00000440857.1 - 6 1062 c.360G>A c.(358-360)gaG>gaA p.E120E DALRD3_ENST00000395462.4_Silent_p.E120E|DALRD3_ENST00000341949.4_Silent_p.E287E|DALRD3_ENST00000441576.2_Silent_p.E287E|DALRD3_ENST00000313778.5_Silent_p.E120E Q5D0E6 DALD3_HUMAN DALR anticodon binding domain containing 3 287 arginyl-tRNA aminoacylation cytoplasm arginine-tRNA ligase activity|ATP binding breast(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1) 12 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) GCTGGAACTCCTCCTCACAGC 0.507000 40 72 0 0 1 0 0 EEF2 1938 broad.mit.edu 37 19 3982015 3982015 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:3982015G>A ENST00000309311.6 - 6 915 c.827C>T c.(826-828)tCa>tTa p.S276L NM_001961.3 NP_001952.1 P13639 EF2_HUMAN eukaryotic translation elongation factor 2 276 cytosol|ribonucleoprotein complex GTP binding|GTPase activity|protein binding|translation elongation factor activity endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18) GCTGGTGGCTGACTTGCTGAA 0.612000 49 24 0 0 1 0 0 FLNA 2316 broad.mit.edu 37 X 153596373 153596373 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:153596373G>A ENST00000422373.1 - 3 707 c.459C>T c.(457-459)ccC>ccT p.P153P FLNA_ENST00000369850.3_Silent_p.P153P|FLNA_ENST00000360319.4_Silent_p.P153P|FLNA_ENST00000344736.4_Silent_p.P153P NM_001456.3 NP_001447.2 P21333 FLNA_HUMAN filamin A, alpha 153 Actin-binding. actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CGTCCCACATGGGCATGGAGA 0.597000 107 143 0 0 1 0 0 WDR62 284403 broad.mit.edu 37 19 36595903 36595903 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:36595903C>T ENST00000401500.2 + 32 4580 c.4545C>T c.(4543-4545)gcC>gcT p.A1515A WDR62_ENST00000270301.7_Silent_p.A1510A NM_001083961.1|NM_173636.4 NP_001077430.1|NP_775907.4 O43379 WDR62_HUMAN WD repeat domain 62 1510 cerebral cortex development nucleus cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3) 43 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) TGGTGCAGGCCGTGCGGAGGA 0.652000 5 9 0 0 1 0 0 ZFAND6 54469 broad.mit.edu 37 15 80429936 80429936 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr15:80429936C>T ENST00000261749.6 + 7 1015 c.593C>T c.(592-594)cCa>cTa p.P198L ZFAND6_ENST00000559835.1_Missense_Mutation_p.P198L|ZFAND6_ENST00000558494.1_Missense_Mutation_p.P198L|ZFAND6_ENST00000559157.1_Missense_Mutation_p.P186L|ZFAND6_ENST00000561060.1_Missense_Mutation_p.P198L|ZFAND6_ENST00000558087.1_Missense_Mutation_p.P198L|ZFAND6_ENST00000559775.1_Missense_Mutation_p.P198L NM_001242913.1|NM_001242914.1|NM_019006.3 NP_001229842.1|NP_001229843.1|NP_061879.2 Q6FIF0 ZFAN6_HUMAN zinc finger, AN1-type domain 6 198 DNA binding|zinc ion binding cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1) 11 AAAGAAAATCCAGTAGTTGTT 0.353000 7 18 0 0 1 0 0 RPL36A-HNRNPH2 100529097 broad.mit.edu 37 X 100666951 100666951 + Silent SNP T T G TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:100666951T>G ENST00000409170.3 + 5 360 c.360T>G c.(358-360)acT>acG p.T120T HNRNPH2_ENST00000316594.5_5'UTR TGAGCCAAACTTGCCACCAAG 0.463000 57 74 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 186088430 186088430 + Splice_Site SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:186088430G>A ENST00000271588.4 + 78 12185 c.11956_splice c.e78+1 p.E3986_splice HMCN1_ENST00000367492.2_Splice_Site_p.E3986_splice NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 3986 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 TCATGTTCATGGTATGGAAGG 0.443000 37 40 0 0 1 0 0 VWCE 220001 broad.mit.edu 37 11 61048417 61048417 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:61048417G>A ENST00000335613.5 - 8 1464 c.1078C>T c.(1078-1080)Ctt>Ttt p.L360F NM_152718.2 NP_689931.2 Q96DN2 VWCE_HUMAN von Willebrand factor C and EGF domains 360 extracellular region calcium ion binding biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 TCCCCCTGAAGGAGTGAGGGG 0.687000 3 12 0 0 1 0 0 SKI 6497 broad.mit.edu 37 1 2160947 2160947 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:2160947C>T ENST00000378536.4 + 1 814 c.742C>T c.(742-744)Ctg>Ttg p.L248L NM_003036.3 NP_003027.1 P12755 SKI_HUMAN v-ski avian sarcoma viral oncogene homolog 248 anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway cytoplasm|PML body|transcription factor complex|transcriptional repressor complex histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1) 10 all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207) CATCCAGTGCCTGGACTGCCG 0.667000 19 16 0 0 1 0 0 CHDH 55349 broad.mit.edu 37 3 53857423 53857423 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:53857423C>T ENST00000315251.5 - 3 1050 c.613G>A c.(613-615)Gcc>Acc p.A205T NM_018397.4 NP_060867.2 Q8NE62 CHDH_HUMAN choline dehydrogenase 205 alcohol metabolic process choline dehydrogenase activity|flavin adenine dinucleotide binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1) 17 Hepatocellular(537;0.152) BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118) Choline(DB00122) TGCTGCGTGGCCTCCAGGAAT 0.682000 6 9 0 0 1 0 0 CNGA3 1261 broad.mit.edu 37 2 98994154 98994154 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:98994154C>T ENST00000393504.1 + 3 523 c.106C>T c.(106-108)Cac>Tac p.H36Y CNGA3_ENST00000409937.1_5'UTR|CNGA3_ENST00000436404.2_Missense_Mutation_p.H36Y|CNGA3_ENST00000272602.2_Missense_Mutation_p.H36Y NM_001298.2 NP_001289.1 Q16281 CNGA3_HUMAN cyclic nucleotide gated channel alpha 3 36 signal transduction|visual perception integral to membrane cGMP binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3) 49 TCCTAGAGCCCACTCGTCAAG 0.567000 6 12 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228559547 228559547 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:228559547C>T ENST00000570156.2 + 105 24013 c.23939C>T c.(23938-23940)tCc>tTc p.S7980F OBSCN_ENST00000422127.1_Missense_Mutation_p.S7023F|OBSCN_ENST00000366707.4_Missense_Mutation_p.S4657F NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 7023 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) GAGAGGCCATCCCCGGACAGC 0.697000 31 8 0 0 1 0 0 NCOR2 9612 broad.mit.edu 37 12 124824853 124824853 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:124824853G>A ENST00000356219.3 - 37 5651 c.5496C>T c.(5494-5496)ccC>ccT p.P1832P NCOR2_ENST00000404621.1_Silent_p.P1815P|NCOR2_ENST00000429285.2_Silent_p.P1815P|NCOR2_ENST00000405201.1_Silent_p.P1825P|NCOR2_ENST00000404121.2_Silent_p.P1386P|NCOR2_ENST00000397355.1_Silent_p.P1816P NM_006312.5 NP_006303.4 Q9Y618 NCOR2_HUMAN nuclear receptor corepressor 2 1833 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) GTCTCCAGATGGGTGCGTGCT 0.682000 14 28 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 21060963 21060963 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr16:21060963G>A ENST00000261383.3 - 31 4387 c.4388C>T c.(4387-4389)gCt>gTt p.A1463V DNAH3_ENST00000415178.1_Missense_Mutation_p.A1463V NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 1463 AAA 1 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) CTTCCCCATAGCTTTGTAATC 0.507000 33 54 0 0 1 0 0 LZTS2 84445 broad.mit.edu 37 10 102762580 102762580 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:102762580C>T ENST00000370220.1 + 1 3348 c.285C>T c.(283-285)ttC>ttT p.F95F LZTS2_ENST00000370223.3_Silent_p.F95F Q9BRK4 LZTS2_HUMAN leucine zipper, putative tumor suppressor 2 95 Required for centrosomal localization (By similarity). cell division|mitosis|Wnt receptor signaling pathway membrane|microtubule|microtubule organizing center breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 22 Epithelial(162;7.3e-09)|all cancers(201;3.72e-07) ATGAGGACTTCCGGACAGAGT 0.627000 16 33 0 0 1 0 0 LGR4 55366 broad.mit.edu 37 11 27390214 27390214 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:27390214C>T ENST00000379214.4 - 18 2499 c.2056G>A c.(2056-2058)Gaa>Aaa p.E686K LGR4_ENST00000389858.4_Missense_Mutation_p.E662K NM_018490.2 NP_060960.2 Q9BXB1 LGR4_HUMAN leucine-rich repeat containing G protein-coupled receptor 4 686 integral to membrane|plasma membrane protein-hormone receptor activity NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1) 32 GCAGAATATTCCCCTCTATGG 0.438000 32 40 0 0 1 0 0 PRDM13 59336 broad.mit.edu 37 6 100061805 100061805 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr6:100061805G>A ENST00000369214.1 + 4 1585 c.1324G>A c.(1324-1326)Gag>Aag p.E442K PRDM13_ENST00000369215.4_Missense_Mutation_p.E432K NM_021620.3 NP_067633.2 Q9H4Q3 PRD13_HUMAN PR domain containing 13 432 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1) 17 all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186) BRCA - Breast invasive adenocarcinoma(108;0.0598) GTTGCCCCTCGAGCGCTGCGC 0.736000 13 2 0 0 1 0 0 F8 2157 broad.mit.edu 37 X 154213059 154213059 + Missense_Mutation SNP T T G TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:154213059T>G ENST00000360256.4 - 6 890 c.690A>C c.(688-690)gaA>gaC p.E230D NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 230 F5/8 type A 1.|Plastocyanin-like 2. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) AGTTCTTTGTTTCTGAGTGCC 0.493000 64 81 0 0 1 0 0 UNC45A 55898 broad.mit.edu 37 15 91490132 91490132 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr15:91490132C>T ENST00000394275.2 + 13 2278 c.1443C>T c.(1441-1443)atC>atT p.I481I UNC45A_ENST00000418476.2_Silent_p.I496I NM_001039675.1 NP_001034764.1 Q9H3U1 UN45A_HUMAN unc-45 homolog A (C. elegans) 496 cell differentiation|muscle organ development nucleus|perinuclear region of cytoplasm protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.189) GCATCCGCATCCGGGCGCTAG 0.637000 16 43 0 0 1 0 0 SLF2 55719 broad.mit.edu 37 10 102684487 102684487 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:102684487C>T ENST00000238961.3 + 5 1877 c.1729C>T c.(1729-1731)Cct>Tct p.P577S FAM178A_ENST00000370271.3_Missense_Mutation_p.P577S|FAM178A_ENST00000370269.3_Missense_Mutation_p.P577S NM_018121.3 NP_060591.3 Q8IX21 F178A_HUMAN family with sequence similarity 178, member A 577 AGATAAAGCCCCTTCAGAAGG 0.458000 19 44 0 0 1 0 0 MS4A14 84689 broad.mit.edu 37 11 60184305 60184305 + Nonsense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:60184305C>T ENST00000300187.6 + 5 2141 c.1864C>T c.(1864-1866)Caa>Taa p.Q622* MS4A14_ENST00000395005.2_Nonsense_Mutation_p.Q605*|MS4A14_ENST00000531783.1_Nonsense_Mutation_p.Q655*|MS4A14_ENST00000531787.1_Nonsense_Mutation_p.Q510* NM_032597.4 NP_115986.3 Q96JA4 M4A14_HUMAN membrane-spanning 4-domains, subfamily A, member 14 622 Gln-rich. integral to membrane receptor activity autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 62 AGGACAATTCCAAAATGTTCA 0.463000 23 26 0 0 1 0 0 TEAD4 7004 broad.mit.edu 37 12 3149530 3149530 + Splice_Site SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:3149530G>A ENST00000359864.2 + 13 1381 c.e13-1 TEAD4_ENST00000358409.2_Splice_Site|TEAD4_ENST00000397122.2_Splice_Site NM_003213.3 NP_003204.2 Q15561 TEAD4_HUMAN TEA domain family member 4 hippo signaling cascade|muscle organ development|skeletal system development DNA binding|protein binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1) 10 Ovarian(42;0.211) OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831) CTCTCCCACAGGTGGTCACCA 0.582000 18 30 0 0 1 0 0 NLRP4 147945 broad.mit.edu 37 19 56373427 56373427 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:56373427G>A ENST00000301295.6 + 5 2510 c.2088G>A c.(2086-2088)ttG>ttA p.L696L NLRP4_ENST00000587891.1_Silent_p.L621L|NLRP4_ENST00000346986.5_Silent_p.L696L NM_134444.4 NP_604393.2 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 696 ATP binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) AGCCAGACTTGAAATACCTGA 0.443000 36 61 0 0 1 0 0 NLRP9 338321 broad.mit.edu 37 19 56244544 56244544 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:56244544G>A ENST00000332836.2 - 2 680 c.653C>T c.(652-654)tCc>tTc p.S218F NM_176820.2 NP_789790.2 Q7RTR0 NALP9_HUMAN NLR family, pyrin domain containing 9 218 NACHT. cytoplasm ATP binding p.S218F(1) NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3) 74 Colorectal(82;0.000133)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.123) CTCTGGCTGGGAAAAAATGTC 0.478000 16 24 0 0 1 0 0 ABCC8 6833 broad.mit.edu 37 11 17498277 17498277 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:17498277C>T ENST00000302539.4 - 1 172 c.47G>A c.(46-48)cGg>cAg p.R16Q ABCC8_ENST00000389817.3_Missense_Mutation_p.R16Q NM_000352.3 NP_000343.2 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 8 16 carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) CTGGTCCACCCGGTAGGCGGC 0.682000 7 12 0 0 1 0 0 GDF2 2658 broad.mit.edu 37 10 48413933 48413933 + Missense_Mutation SNP G G A rs141580368 TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:48413933G>A ENST00000249598.1 - 2 1094 c.935C>T c.(934-936)tCg>tTg p.S312L NM_016204.1 NP_057288.1 Q9UK05 GDF2_HUMAN growth differentiation factor 2 312 activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 28 GGCTAAAGTCGACCCCGCAGC 0.617000 33 46 0 0 1 0 0 VRTN 55237 broad.mit.edu 37 14 74825001 74825001 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr14:74825001C>T ENST00000256362.4 + 2 1756 c.1515C>T c.(1513-1515)tcC>tcT p.S505S NM_018228.2 NP_060698.2 Q9H8Y1 VRTN_HUMAN vertebrae development associated 505 transposition, DNA-mediated DNA binding|transposase activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1) 41 TGCCCCTGTCCCGTTGGCAGA 0.662000 41 43 0 0 1 0 0 COL11A1 1301 broad.mit.edu 37 1 103453203 103453203 + Nonsense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:103453203G>A ENST00000358392.2 - 30 2841 c.2524C>T c.(2524-2526)Caa>Taa p.Q842* COL11A1_ENST00000512756.1_Nonsense_Mutation_p.Q714*|COL11A1_ENST00000370096.3_Nonsense_Mutation_p.Q830*|COL11A1_ENST00000353414.4_Nonsense_Mutation_p.Q791* NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 830 Triple-helical region. 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 p.Q842*(1)|p.Q830*(1) 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) TCTCCTGCTTGACCTGAAGGA 0.463000 15 46 0 0 1 0 0 FAM179A 165186 broad.mit.edu 37 2 29245103 29245103 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:29245103G>A ENST00000379558.4 + 11 1791 c.1440G>A c.(1438-1440)aaG>aaA p.K480K FAM179A_ENST00000403861.2_Silent_p.K425K|FAM179A_ENST00000465300.1_3'UTR NM_199280.2 NP_954974.2 Q6ZUX3 F179A_HUMAN family with sequence similarity 179, member A 480 binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 GAGCCTGTAAGGAGTTGAGGC 0.542000 28 48 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103243847 103243847 + Nonsense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:103243847C>T ENST00000428762.1 - 24 3396 c.3237G>A c.(3235-3237)tgG>tgA p.W1079* RELN_ENST00000343529.5_Nonsense_Mutation_p.W1079*|RELN_ENST00000424685.2_Nonsense_Mutation_p.W1079* NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 1079 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) AGTCAGACTCCCAGCCATTCT 0.478000 45 85 0 0 1 0 0 OGT 8473 broad.mit.edu 37 X 70787526 70787526 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:70787526G>A ENST00000373719.3 + 20 2983 c.2766G>A c.(2764-2766)ttG>ttA p.L922L OGT_ENST00000373701.3_Silent_p.L912L NM_181672.2|NM_181673.2 NP_858058.1|NP_858059.1 O15294 OGT1_HUMAN O-linked N-acetylglucosamine (GlcNAc) transferase 922 cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction cytosol|MLL5-L complex enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 Renal(35;0.156) ATGTCTGCTTGGACACTCCAC 0.527000 26 15 0 0 1 0 0 PCDHA8 56140 broad.mit.edu 37 5 140223143 140223143 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:140223143G>A ENST00000531613.1 + 1 2237 c.2237G>A c.(2236-2238)gGg>gAg p.G746E PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.G746E|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron NM_018911.2 NP_061734.1 NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGTGCGGTGGGGAGCTGGTCA 0.662000 15 31 0 0 1 0 0 WIZ 58525 broad.mit.edu 37 19 15535766 15535766 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:15535766G>A ENST00000389282.4 - 8 4471 c.4258C>T c.(4258-4260)Ctg>Ttg p.L1420L WIZ_ENST00000545156.1_Silent_p.L734L|WIZ_ENST00000263381.6_Silent_p.L563L|WIZ_ENST00000599910.1_Silent_p.L737L|WIZ_ENST00000599686.2_Silent_p.L604L O95785 WIZ_HUMAN widely interspaced zinc finger motifs 1420 nucleus zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1) 24 AACTGCCGCAGGTGTGCCCGT 0.672000 7 6 0 0 1 0 0 OR5AU1 390445 broad.mit.edu 37 14 21623849 21623849 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr14:21623849G>A ENST00000304418.3 - 1 373 c.336C>T c.(334-336)tcC>tcT p.S112S NM_001004731.1 NP_001004731.1 Q8NGC0 O5AU1_HUMAN olfactory receptor, family 5, subfamily AU, member 1 112 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1) 21 all_cancers(95;0.00238) Epithelial(56;6.88e-07)|all cancers(55;6.02e-06) GBM - Glioblastoma multiforme(265;0.0192) TCTTCAGGAGGGAGTACATGG 0.542000 20 31 0 0 1 0 0 L1CAM 3897 broad.mit.edu 37 X 153133564 153133564 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:153133564C>T ENST00000370060.1 - 15 1906 c.1717G>A c.(1717-1719)Gat>Aat p.D573N L1CAM_ENST00000370055.1_Missense_Mutation_p.D568N|L1CAM_ENST00000543994.1_Missense_Mutation_p.D575N|L1CAM_ENST00000361981.3_Missense_Mutation_p.D568N|L1CAM_ENST00000538883.1_Missense_Mutation_p.D575N|L1CAM_ENST00000370057.3_Missense_Mutation_p.D573N|L1CAM_ENST00000361699.4_Missense_Mutation_p.D573N NM_001278116.1 NP_001265045.1 P32004 L1CAM_HUMAN L1 cell adhesion molecule 573 Ig-like C2-type 6. axon guidance|blood coagulation|cell death|leukocyte migration integral to membrane NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) AGGCGCCCATCCTCTATGAAG 0.612000 24 37 0 0 1 0 0 GUSB 2990 broad.mit.edu 37 7 65441107 65441107 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:65441107G>A ENST00000304895.4 - 5 937 c.807C>T c.(805-807)gtC>gtT p.V269V GUSB_ENST00000421103.1_Intron|GUSB_ENST00000476486.1_5'UTR|GUSB_ENST00000345660.6_Silent_p.V269V NM_000181.3 NP_000172.2 P08236 BGLR_HUMAN glucuronidase, beta 269 glycosaminoglycan catabolic process lysosome beta-glucuronidase activity|cation binding breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1) 20 CATTCGCCACGACTTTGTTTT 0.522000 18 58 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92085508 92085508 + Nonsense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:92085508G>A ENST00000298047.6 + 1 247 c.230G>A c.(229-231)tGg>tAg p.W77* FAT3_ENST00000541502.1_Nonsense_Mutation_p.W77*|FAT3_ENST00000409404.2_Nonsense_Mutation_p.W77* Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 77 Cadherin 1. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding p.W77L(2) NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) GATCTATCCTGGGATATCAAA 0.408000 TCGA Ovarian(4;0.039) 15 32 0 0 1 0 0 ARFGEF1 10565 broad.mit.edu 37 8 68145181 68145181 + Splice_Site SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:68145181C>T ENST00000262215.3 - 23 3679 c.e23-1 ARFGEF1_ENST00000518230.1_Splice_Site|ARFGEF1_ENST00000520381.1_Splice_Site NM_006421.4 NP_006412.2 Q9Y6D6 BIG1_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) exocytosis|regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity|myosin binding breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206) TTTCCTCCAACTACCACACAT 0.348000 41 74 0 0 1 0 0 ESYT3 83850 broad.mit.edu 37 3 138195306 138195306 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:138195306G>A ENST00000389567.4 + 22 2782 c.2596G>A c.(2596-2598)Gaa>Aaa p.E866K ESYT3_ENST00000460133.1_3'UTR NM_031913.3 NP_114119.2 A0FGR9 ESYT3_HUMAN extended synaptotagmin-like protein 3 866 integral to membrane|plasma membrane breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 25 CTTATCAAAAGAAGATCTGAT 0.348000 19 41 0 0 1 0 0 LOC645752 645752 broad.mit.edu 37 15 78208921 78208921 + RNA SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr15:78208921C>T ENST00000565869.1 + 0 58 ATGTTCTCCTCCATCTCCTGT 0.622000 24 62 0 0 1 0 0 OR2M5 127059 broad.mit.edu 37 1 248308465 248308465 + Nonsense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:248308465C>T ENST00000366476.1 + 1 16 c.16C>T c.(16-18)Cag>Tag p.Q6* NM_001004690.1 NP_001004690.1 A3KFT3 OR2M5_HUMAN olfactory receptor, family 2, subfamily M, member 5 6 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 49 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;0.0388) ATGGGAGAATCAGACCTTCAA 0.423000 126 59 0 0 1 0 0 GRIK1 2897 broad.mit.edu 37 21 31015182 31015182 + Nonsense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr21:31015182C>T ENST00000399914.1 - 7 1583 c.1062G>A c.(1060-1062)tgG>tgA p.W354* GRIK1_ENST00000389125.3_Nonsense_Mutation_p.W354*|GRIK1_ENST00000309434.7_Nonsense_Mutation_p.W354*|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000399909.1_Nonsense_Mutation_p.W354*|GRIK1_ENST00000399913.1_Nonsense_Mutation_p.W354*|GRIK1_ENST00000535441.1_Nonsense_Mutation_p.W354*|GRIK1_ENST00000399907.1_Nonsense_Mutation_p.W354*|GRIK1_ENST00000327783.4_Nonsense_Mutation_p.W354*|GRIK1_ENST00000389124.2_Nonsense_Mutation_p.W354* P39086 GRIK1_HUMAN glutamate receptor, ionotropic, kainate 1 354 central nervous system development|synaptic transmission cell junction|postsynaptic membrane kainate selective glutamate receptor activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1) 45 L-Glutamic Acid(DB00142)|Topiramate(DB00273) GTCCGAGGCGCCATGGCTTAT 0.577000 31 14 0 0 1 0 0 COL1A2 1278 broad.mit.edu 37 7 94053707 94053707 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:94053707C>T ENST00000297268.6 + 41 3096 c.2625C>T c.(2623-2625)ctC>ctT p.L875L NM_000089.3 NP_000080.2 P08123 CO1A2_HUMAN collagen, type I, alpha 2 875 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) TTCTGGGTCTCCCTGGCTCGA 0.468000 HNSCC(75;0.22) 29 97 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49420672 49420672 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:49420672G>A ENST00000301067.7 - 48 15076 c.15077C>T c.(15076-15078)cCg>cTg p.P5026L NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D CATGTCTCGCGGTACCTTGTC 0.622000 34 48 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55538529 55538529 + Missense_Mutation SNP T T C TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:55538529T>C ENST00000220676.1 + 4 2235 c.2087T>C c.(2086-2088)cTt>cCt p.L696P NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 696 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) AAAGGAATTCTTAATAAGAAT 0.358000 18 22 0 0 1 0 0 ARID5A 10865 broad.mit.edu 37 2 97217885 97217885 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:97217885C>T ENST00000454558.2 + 7 2593 c.1416C>T c.(1414-1416)gcC>gcT p.A472A ARID5A_ENST00000357485.3_Silent_p.A540A Q03989 ARI5A_HUMAN AT rich interactive domain 5A (MRF1-like) 540 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2) 14 ACTTCCTGGCCACCGCAGGCC 0.697000 66 115 0 0 1 0 0 NTM 50863 broad.mit.edu 37 11 132016341 132016341 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:132016341C>T ENST00000374786.1 + 2 812 c.333C>T c.(331-333)ggC>ggT p.G111G NTM_ENST00000374784.1_Silent_p.G111G|NTM_ENST00000539799.1_Silent_p.G111G|NTM_ENST00000427481.2_Silent_p.G102G|NTM_ENST00000425719.2_Silent_p.G111G|NTM_ENST00000374791.3_Silent_p.G111G NM_001144058.1|NM_016522.2 NP_001137530.1|NP_057606.1 Q9P121 NTRI_HUMAN neurotrimin 111 Ig-like C2-type 1. cell adhesion|neuron recognition anchored to membrane|plasma membrane breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(30)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 56 ATGACGAGGGCCCTTACACCT 0.582000 20 43 0 0 1 0 0 LHFPL2 10184 broad.mit.edu 37 5 77805827 77805827 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:77805827G>A ENST00000380345.2 - 4 885 c.210C>T c.(208-210)aaC>aaT p.N70N LHFPL2_ENST00000515007.2_Silent_p.N70N NM_005779.2 NP_005770.1 Q6ZUX7 LHPL2_HUMAN lipoma HMGIC fusion partner-like 2 70 integral to membrane endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1) 6 all_lung(232;0.000409)|Lung NSC(167;0.00108)|Ovarian(174;0.0107)|Prostate(461;0.218) OV - Ovarian serous cystadenocarcinoma(54;6.48e-46)|Epithelial(54;8.43e-42)|all cancers(79;1.42e-36) GCACCCCTGGGTTCCGGATGC 0.726000 11 9 0 0 1 0 0 FCRL5 83416 broad.mit.edu 37 1 157516741 157516741 + Missense_Mutation SNP A A G TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:157516741A>G ENST00000361835.3 - 3 456 c.299T>C c.(298-300)tTt>tCt p.F100S FCRL5_ENST00000368188.2_Missense_Mutation_p.F100S|FCRL5_ENST00000368191.3_Intron|FCRL5_ENST00000368189.3_Missense_Mutation_p.F100S|FCRL5_ENST00000368190.3_Missense_Mutation_p.F100S|FCRL5_ENST00000356953.4_Missense_Mutation_p.F100S NM_001195388.1|NM_031281.2 NP_001182317.1|NP_112571.2 Q96RD9 FCRL5_HUMAN Fc receptor-like 5 100 Ig-like C2-type 1. integral to membrane|plasma membrane receptor activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 85 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.231) ACCTGAAGAAAAATCCAAGTG 0.473000 33 38 0 0 1 0 0 NBAS 51594 broad.mit.edu 37 2 15607790 15607790 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:15607790G>A ENST00000281513.5 - 18 2041 c.2016C>T c.(2014-2016)tcC>tcT p.S672S NBAS_ENST00000441750.1_Silent_p.S672S NM_015909.3 NP_056993.2 A2RRP1 NBAS_HUMAN neuroblastoma amplified sequence 672 p.S672S(1) NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3) 112 TCATTTACTTGGAAAAGTTCA 0.328000 6 16 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100686757 100686757 + Silent SNP C C A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:100686757C>A ENST00000306151.4 + 3 12124 c.12060C>A c.(12058-12060)ggC>ggA p.G4020G NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 4020 extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) CCAGCAGAGGCTGCACTACTT 0.527000 57 91 2.30037e-20 2.34744e-20 1 1 0 KIF21B 23046 broad.mit.edu 37 1 200969700 200969700 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:200969700G>A ENST00000332129.2 - 11 1819 c.1503C>T c.(1501-1503)tcC>tcT p.S501S KIF21B_ENST00000360529.5_Silent_p.S501S|KIF21B_ENST00000422435.2_Silent_p.S501S|KIF21B_ENST00000461742.2_Silent_p.S501S NM_001252102.1|NM_001252103.1|NM_017596.3 NP_001239031.1|NP_001239032.1|NP_060066.2 O75037 KI21B_HUMAN kinesin family member 21B 501 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2) 83 TGCGGCGCAGGGACTCGTTCA 0.672000 11 27 0 0 1 0 0 PCDHGA9 56107 broad.mit.edu 37 5 140783494 140783494 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:140783494G>A ENST00000573521.1 + 1 975 c.975G>A c.(973-975)ggG>ggA p.G325G PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018921.2|NM_032089.1 NP_061744.1|NP_114478.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AAGATGGTGGGGGATTGAAAG 0.383000 36 105 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179447251 179447251 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:179447251C>T ENST00000589042.1 - 314 66156 c.65932G>A c.(65932-65934)Gaa>Aaa p.E21978K TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E19410K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E20337K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E13038K|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E13105K|TTN_ENST00000460472.2_Missense_Mutation_p.E12913K|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 20337 Fibronectin type-III 59. 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) AGAGGCGGTTCCCAAGAAAGC 0.443000 27 32 0 0 1 0 0 MEGF11 84465 broad.mit.edu 37 15 66257437 66257437 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr15:66257437G>A ENST00000409699.2 - 9 1093 c.921C>T c.(919-921)ttC>ttT p.F307F MEGF11_ENST00000422354.1_Silent_p.F307F|MEGF11_ENST00000360698.4_Silent_p.F307F|MEGF11_ENST00000395625.2_Silent_p.F232F|MEGF11_ENST00000288745.3_Silent_p.F232F|MEGF11_ENST00000395614.1_5'UTR A6BM72 MEG11_HUMAN multiple EGF-like-domains 11 307 basolateral plasma membrane|integral to membrane breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 19 CGAAGGACCCGAAGGGGCACT 0.627000 4 6 0 0 1 0 0 BACH2 60468 broad.mit.edu 37 6 90642434 90642434 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr6:90642434G>A ENST00000257749.4 - 9 2926 c.2219C>T c.(2218-2220)aCg>aTg p.T740M BACH2_ENST00000537989.1_Missense_Mutation_p.T740M|BACH2_ENST00000343122.3_Missense_Mutation_p.T740M NM_021813.2 NP_068585.1 Q9BYV9 BACH2_HUMAN BTB and CNC homology 1, basic leucine zipper transcription factor 2 740 nucleus protein dimerization activity|sequence-specific DNA binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 45 all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063) BRCA - Breast invasive adenocarcinoma(108;0.0799) ACTGGAGGCCGTGGGCAAGTC 0.617000 31 15 0 0 1 0 0 GP5 2814 broad.mit.edu 37 3 194118337 194118337 + Silent SNP G G A rs146555099 TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:194118337G>A ENST00000401815.1 - 1 746 c.675C>T c.(673-675)ttC>ttT p.F225F GP5_ENST00000323007.3_Silent_p.F225F P40197 GPV_HUMAN glycoprotein V (platelet) 225 blood coagulation, intrinsic pathway|cell adhesion|platelet activation integral to plasma membrane p.F225F(2) breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1) 35 all_cancers(143;6.64e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;4.06e-05) GATTTCGGTGGAACTGCAGCT 0.587000 86 135 0 0 1 0 0 GLRA1 2741 broad.mit.edu 37 5 151271933 151271933 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:151271933G>A ENST00000274576.4 - 2 415 c.123C>T c.(121-123)ttC>ttT p.F41F GLRA1_ENST00000455880.2_Silent_p.F41F|GLRA1_ENST00000545569.1_Intron|GLRA1_ENST00000471351.2_5'UTR NM_000171.3|NM_001146040.1 NP_000162.2|NP_001139512.1 P23415 GLRA1_HUMAN glycine receptor, alpha 1 41 muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 23 all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912) Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) GCTTATCCAGGAAATCCGAGG 0.498000 23 32 0 0 1 0 0 GABRA3 2556 broad.mit.edu 37 X 151358325 151358325 + Missense_Mutation SNP C C G TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:151358325C>G ENST00000370314.4 - 9 1258 c.1020G>C c.(1018-1020)tgG>tgC p.W340C GABRA3_ENST00000535043.1_Missense_Mutation_p.W340C|GABRA3_ENST00000497894.1_5'UTR|GABRA3_ENST00000370311.1_Missense_Mutation_p.W340C NM_000808.3 NP_000799.1 P34903 GBRA3_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 3 340 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|protein binding breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6) 37 Acute lymphoblastic leukemia(192;6.56e-05) Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) CGGCTATGAACCAGTCCATGG 0.483000 51 43 0 0 1 0 0 COL27A1 85301 broad.mit.edu 37 9 116930839 116930839 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr9:116930839C>T ENST00000356083.3 + 3 1395 c.1004C>T c.(1003-1005)cCc>cTc p.P335L NM_032888.2 NP_116277.2 Q8IZC6 CORA1_HUMAN collagen, type XXVII, alpha 1 335 Pro-rich. cell adhesion extracellular matrix structural constituent central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3) 80 GCACTTGATCCCATGCTCCCA 0.607000 31 10 0 0 1 0 0 BCRP7 100133163 broad.mit.edu 37 22 18846126 18846126 + RNA SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr22:18846126G>A ENST00000412938.1 + 0 3484 ACTGGCGCACGATGTAGGGCA 0.617000 4 28 0 0 1 0 0 PITPNM2 57605 broad.mit.edu 37 12 123482103 123482103 + Missense_Mutation SNP G G A rs143163958 TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:123482103G>A ENST00000280562.5 - 10 1446 c.1241C>T c.(1240-1242)cCg>cTg p.P414L PITPNM2_ENST00000542749.1_Missense_Mutation_p.P414L|PITPNM2_ENST00000392428.1_Missense_Mutation_p.P135L|PITPNM2_ENST00000320201.4_Missense_Mutation_p.P414L Q9BZ72 PITM2_HUMAN phosphatidylinositol transfer protein, membrane-associated 2 414 metabolic process|transport endomembrane system|integral to membrane|intracellular membrane-bounded organelle calcium ion binding|lipid binding NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 39 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123) TGCAGCCAGCGGCTGGCTAAC 0.662000 50 130 0 0 1 0 0 FOXK1 221937 broad.mit.edu 37 7 4798813 4798813 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:4798813C>T ENST00000328914.4 + 6 1376 c.1376C>T c.(1375-1377)tCt>tTt p.S459F FOXK1_ENST00000446823.1_Missense_Mutation_p.S296F NM_001037165.1 NP_001032242.1 P85037 FOXK1_HUMAN forkhead box K1 459 cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15) AAGTTAGCTTCTGTCCCAGAG 0.687000 87 87 0 0 1 0 0 PRDM11 56981 broad.mit.edu 37 11 45246289 45246289 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:45246289C>T ENST00000263765.4 + 8 1615 c.1366C>T c.(1366-1368)Cgg>Tgg p.R456W PRDM11_ENST00000528980.1_Intron|CTD-2560E9.3_ENST00000527450.1_RNA|PRDM11_ENST00000530656.1_Missense_Mutation_p.R456W|PRDM11_ENST00000424263.2_Missense_Mutation_p.R422W Q9NQV5 PRD11_HUMAN PR domain containing 11 456 endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 26 GAAGAAGGTTCGGGAGCTCCA 0.552000 96 162 0 0 1 0 0 PLCL1 5334 broad.mit.edu 37 2 198950750 198950750 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:198950750G>A ENST00000428675.1 + 2 2907 c.2509G>A c.(2509-2511)Gag>Aag p.E837K PLCL1_ENST00000437704.2_Missense_Mutation_p.E739K NM_006226.3 NP_006217.3 Q15111 PLCL1_HUMAN phospholipase C-like 1 837 intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity p.E739*(1) autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Quinacrine(DB01103) TGACATCATGGAGCACGTAAC 0.458000 18 50 0 0 1 0 0 CLDN17 26285 broad.mit.edu 37 21 31538400 31538400 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr21:31538400C>T ENST00000286808.3 - 1 571 c.536G>A c.(535-537)gGg>gAg p.G179E NM_012131.2 NP_036263.1 P56750 CLD17_HUMAN claudin 17 179 calcium-independent cell-cell adhesion|tight junction assembly Golgi apparatus|integral to membrane|tight junction identical protein binding|structural molecule activity NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 23 AAGCAGACCCCCTCCAATGAA 0.512000 7 40 0 0 1 0 0 BCLAF1 9774 broad.mit.edu 37 6 136582518 136582518 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr6:136582518G>A ENST00000531224.1 - 12 2894 c.2642C>T c.(2641-2643)tCa>tTa p.S881L BCLAF1_ENST00000353331.4_Missense_Mutation_p.S830L|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000527759.1_Missense_Mutation_p.S879L|BCLAF1_ENST00000392348.2_Missense_Mutation_p.S830L|BCLAF1_ENST00000031135.9_Missense_Mutation_p.S99L|BCLAF1_ENST00000527536.1_Missense_Mutation_p.S832L|BCLAF1_ENST00000530767.1_Missense_Mutation_p.S708L NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 881 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding p.S881L(1) haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) ACTGCTACCTGATTTTTTGAA 0.428000 53 181 0 0 1 0 0 MROH5 389690 broad.mit.edu 37 8 142506530 142506530 + RNA SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:142506530C>T ENST00000430863.1 - 0 232 NM_207414.2 NP_997297.2 maestro heat-like repeat family member 5 CCATCTGTCCCTGCGGGCAGA 0.582000 11 41 0 0 1 0 0 AGRN 375790 broad.mit.edu 37 1 983443 983443 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:983443G>A ENST00000379370.2 + 23 3853 c.3803G>A c.(3802-3804)gGa>gAa p.G1268E NM_198576.3 NP_940978.2 O00468 AGRIN_HUMAN agrin 1268 Ser/Thr-rich. axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering basal lamina laminin binding|structural constituent of cytoskeleton breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 42 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201) ATTGCTGCGGGAGCCACGGCC 0.667000 2 1 0 0 1 0 0 ZNF208 7757 broad.mit.edu 37 19 22155687 22155687 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:22155687C>T ENST00000397126.4 - 4 2297 c.2149G>A c.(2149-2151)Gga>Aga p.G717R ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) GGTTTCTCTCCAGTATGAATT 0.373000 14 17 0 0 1 0 0 ZNF548 147694 broad.mit.edu 37 19 57908527 57908527 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:57908527C>T ENST00000366197.5 + 2 377 c.127C>T c.(127-129)Ctt>Ttt p.L43F AC003002.4_ENST00000597658.1_Intron|ZNF548_ENST00000598895.1_Missense_Mutation_p.L55F|AC003002.6_ENST00000596400.1_Intron|ZNF548_ENST00000597400.1_Missense_Mutation_p.L55F|ZNF548_ENST00000336128.7_Missense_Mutation_p.L55F|AC003002.6_ENST00000600421.1_3'UTR|AC004076.7_ENST00000597410.1_Intron NM_152909.3 NP_690873.2 Q8NEK5 ZN548_HUMAN zinc finger protein 548 43 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) GAATTTGGCCCTTTTGTCCTC 0.532000 135 225 0 0 1 0 0 EMILIN1 11117 broad.mit.edu 37 2 27306173 27306173 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:27306173G>A ENST00000380320.4 + 4 2233 c.1734G>A c.(1732-1734)ggG>ggA p.G578G NM_007046.3 NP_008977.1 Q9Y6C2 EMIL1_HUMAN elastin microfibril interfacer 1 578 cell adhesion collagen breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 26 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGGCCCATGGGGATGAGGGCT 0.657000 23 26 0 0 1 0 0 BRINP3 339479 broad.mit.edu 37 1 190129883 190129883 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:190129883G>A ENST00000367462.3 - 7 1330 c.1099C>T c.(1099-1101)Cta>Tta p.L367L FAM5C_ENST00000534846.1_Silent_p.L265L|FAM5C_ENST00000484105.1_5'UTR NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN 367 extracellular region NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) TGCGCCTTTAGGAAAAGTTGT 0.398000 33 51 0 0 1 0 0 LRRIQ3 127255 broad.mit.edu 37 1 74575193 74575193 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:74575193C>T ENST00000354431.4 - 5 943 c.752G>A c.(751-753)aGa>aAa p.R251K LRRIQ3_ENST00000468759.1_5'UTR|LRRIQ3_ENST00000370909.2_Missense_Mutation_p.R143K|LRRIQ3_ENST00000395089.1_Missense_Mutation_p.R251K NM_001105659.1 NP_001099129.1 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 251 NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5) 73 TTCATATCCTCTAATAATTTT 0.318000 16 29 0 0 1 0 0 PUM2 23369 broad.mit.edu 37 2 20463022 20463022 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:20463022G>A ENST00000361078.2 - 13 2179 c.2157C>T c.(2155-2157)ttC>ttT p.F719F PUM2_ENST00000319801.5_Silent_p.F640F|PUM2_ENST00000403432.1_Silent_p.F719F|PUM2_ENST00000338086.5_Silent_p.F719F|PUM2_ENST00000536417.1_Silent_p.F663F Q8TB72 PUM2_HUMAN pumilio RNA-binding family member 2 719 PUM-HD. regulation of translation perinuclear region of cytoplasm|stress granule protein binding|RNA binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3) 42 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GAAGGTTTGGGAAGCGGTTGT 0.423000 24 42 0 0 1 0 0 ARSH 347527 broad.mit.edu 37 X 2951409 2951409 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:2951409C>T ENST00000381130.2 + 9 1672 c.1672C>T c.(1672-1674)Ctt>Ttt p.L558F NM_001011719.1 NP_001011719.1 Q5FYA8 ARSH_HUMAN arylsulfatase family, member H 558 integral to membrane arylsulfatase activity|metal ion binding breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1) 34 all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186) AGATGACATCCTTCCCATGGC 0.517000 9 20 0 0 1 0 0 HERPUD2 64224 broad.mit.edu 37 7 35677969 35677969 + Missense_Mutation SNP T T A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:35677969T>A ENST00000396081.1 - 5 1412 c.608A>T c.(607-609)tAt>tTt p.Y203F HERPUD2_ENST00000311350.3_Missense_Mutation_p.Y203F|HERPUD2_ENST00000426180.1_5'UTR NM_022373.4 NP_071768.3 Q9BSE4 HERP2_HUMAN HERPUD family member 2 203 response to unfolded protein integral to membrane kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1) 18 CTACTGCATATAATACTGATG 0.388000 17 53 0 0 1 0 0 PNOC 5368 broad.mit.edu 37 8 28196631 28196631 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:28196631G>A ENST00000301908.3 + 3 409 c.201G>A c.(199-201)agG>agA p.R67R RP11-380I10.4_ENST00000521731.1_RNA|PNOC_ENST00000522209.1_Silent_p.R3R NM_006228.3 NP_006219.1 Q13519 PNOC_HUMAN prepronociceptin 67 neuropeptide signaling pathway|sensory perception|synaptic transmission extracellular region neuropeptide hormone activity|opioid peptide activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3) 5 Ovarian(32;0.000953) KIRC - Kidney renal clear cell carcinoma(542;0.104)|Kidney(114;0.125)|Colorectal(74;0.145)|BRCA - Breast invasive adenocarcinoma(99;0.245) TCATGGCCAGGAGCTCTTGGC 0.627000 27 49 0 0 1 0 0 WBSCR17 64409 broad.mit.edu 37 7 70880892 70880892 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:70880892C>T ENST00000333538.5 + 4 1241 c.607C>T c.(607-609)Cta>Tta p.L203L WBSCR17_ENST00000498380.2_3'UTR NM_022479.1 NP_071924.1 Q6IS24 GLTL3_HUMAN Williams-Beuren syndrome chromosome region 17 203 Catalytic subdomain A. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 100 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) GAAGGTCCCCCTAGAGGAGTA 0.493000 12 34 0 0 1 0 0 DUOX1 53905 broad.mit.edu 37 15 45436378 45436378 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr15:45436378C>T ENST00000321429.4 + 18 2488 c.2081C>T c.(2080-2082)tCc>tTc p.S694F DUOX1_ENST00000389037.3_Missense_Mutation_p.S694F|DUOX1_ENST00000561166.1_Missense_Mutation_p.S340F NM_017434.3 NP_059130.2 Q9NRD9 DUOX1_HUMAN dual oxidase 1 694 cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation apical plasma membrane|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1) 57 all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717) TTCGTCCTGTCCAGCAACCGT 0.612000 25 36 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237819251 237819251 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:237819251G>A ENST00000366574.2 + 53 8413 c.8096G>A c.(8095-8097)gGg>gAg p.G2699E RYR2_ENST00000360064.6_Missense_Mutation_p.G2697E|RYR2_ENST00000542537.1_Missense_Mutation_p.G2683E NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 2699 4 X approximate repeats.|Modulator (Potential). cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GATTCTGAAGGGAACTTTAAC 0.403000 8 4 0 0 1 0 0 SERTAD1 29950 broad.mit.edu 37 19 40929339 40929339 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:40929339C>T ENST00000357949.4 - 2 273 c.115G>A c.(115-117)Gcc>Acc p.A39T NM_013376.3 NP_037508.2 Q9UHV2 SRTD1_HUMAN SERTA domain containing 1 39 SERTA. positive regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent endometrium(2)|lung(1)|prostate(1)|skin(1) 5 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) GAGGCCACGGCCGGGGGTGCC 0.637000 15 24 0 0 1 0 0 MS4A14 84689 broad.mit.edu 37 11 60184188 60184188 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:60184188G>A ENST00000300187.6 + 5 2024 c.1747G>A c.(1747-1749)Gat>Aat p.D583N MS4A14_ENST00000395005.2_Missense_Mutation_p.D566N|MS4A14_ENST00000531783.1_Missense_Mutation_p.D616N|MS4A14_ENST00000531787.1_Missense_Mutation_p.D471N NM_032597.4 NP_115986.3 Q96JA4 M4A14_HUMAN membrane-spanning 4-domains, subfamily A, member 14 583 Gln-rich. integral to membrane receptor activity autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 62 ACAATCTAAAGATGGACAAGT 0.443000 23 24 0 0 1 0 0 SESTD1 91404 broad.mit.edu 37 2 180008406 180008406 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:180008406G>A ENST00000428443.3 - 9 1078 c.762C>T c.(760-762)ctC>ctT p.L254L NM_178123.4 NP_835224.3 Q86VW0 SESD1_HUMAN SEC14 and spectrin domains 1 254 regulation of calcium ion transport via voltage-gated calcium channel activity phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3) 30 OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147) ATTGCTCTCGGAGTGAATCTA 0.458000 32 71 0 0 1 0 0 SYNRG 11276 broad.mit.edu 37 17 35913449 35913449 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:35913449G>A ENST00000339208.6 - 14 2516 c.2376C>T c.(2374-2376)tcC>tcT p.S792S SYNRG_ENST00000585472.1_Silent_p.S713S|SYNRG_ENST00000502449.2_Silent_p.S714S|SYNRG_ENST00000394378.2_Silent_p.S714S|SYNRG_ENST00000345615.4_Silent_p.S714S|SYNRG_ENST00000346661.4_Silent_p.S792S|SYNRG_ENST00000591288.1_Silent_p.S631S NM_001163544.1|NM_001163545.1|NM_007247.4 NP_001157016.1|NP_001157017.1|NP_009178.3 Q9UMZ2 SYNRG_HUMAN synergin, gamma 792 endocytosis|intracellular protein transport AP-1 adaptor complex calcium ion binding breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 TCTCTCCCAGGGATTTGTCCG 0.448000 30 52 0 0 1 0 0 NDN 4692 broad.mit.edu 37 15 23932305 23932305 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr15:23932305G>A ENST00000331837.4 - 1 145 c.60C>T c.(58-60)tcC>tcT p.S20S NM_002487.2 NP_002478.1 Q99608 NECD_HUMAN necdin, melanoma antigen (MAGE) family member 20 negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perikaryon DNA binding breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1) 39 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153) TGTGCACCTCGGAGTTGGGGG 0.667000 Prader-Willi syndrome 14 10 0 0 1 0 0 MYOF 26509 broad.mit.edu 37 10 95079641 95079641 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:95079641G>A ENST00000371501.4 - 49 5708 c.5586C>T c.(5584-5586)atC>atT p.I1862I MYOF_ENST00000371502.4_Silent_p.I1852I|MYOF_ENST00000359263.4_Silent_p.I1862I|MYOF_ENST00000358334.5_Silent_p.I1849I Q9NZM1 MYOF_HUMAN myoferlin 1862 blood circulation|muscle contraction|plasma membrane repair caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane phospholipid binding|protein binding NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 TTTTCGCAACGATACAGAGTT 0.443000 23 44 0 0 1 0 0 TET3 200424 broad.mit.edu 37 2 74320791 74320791 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:74320791G>A ENST00000409262.3 + 7 2860 c.2860G>A c.(2860-2862)Gtg>Atg p.V954M NM_144993.1 NP_659430.1 O43151 TET3_HUMAN tet methylcytosine dioxygenase 3 954 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(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 TGGGTGCACCGTGGTAAGCCT 0.627000 22 37 0 0 1 0 0 OXA1L 5018 broad.mit.edu 37 14 23237204 23237204 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr14:23237204C>T ENST00000358043.5 + 3 533 c.215C>T c.(214-216)cCc>cTc p.P72L OXA1L_ENST00000285848.5_Missense_Mutation_p.P148L|OXA1L_ENST00000412791.1_Missense_Mutation_p.P88L|OXA1L_ENST00000604262.1_Missense_Mutation_p.P88L Q15070 OXA1L_HUMAN oxidase (cytochrome c) assembly 1-like 88 aerobic respiration|mitochondrial proton-transporting ATP synthase complex assembly|mitochondrial respiratory chain complex I assembly|negative regulation of ATPase activity|negative regulation of oxidoreductase activity|protein insertion into membrane|protein tetramerization integral to mitochondrial membrane|mitochondrial respiratory chain|protein complex protein homodimerization activity|ribosome binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2) 19 all_cancers(95;8.44e-05) GBM - Glioblastoma multiforme(265;0.0096) ACTCCCTCACCCACAGCAGTA 0.507000 14 28 0 0 1 0 0 MIOX 55586 broad.mit.edu 37 22 50926477 50926477 + Splice_Site SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr22:50926477G>A ENST00000395732.3 + 4 362 c.340_splice c.e4+1 p.D114_splice MIOX_ENST00000216075.6_Splice_Site_p.D114_splice|MIOX_ENST00000395733.3_Splice_Site_p.V114_splice Q9UGB7 MIOX_HUMAN myo-inositol oxygenase 114 inositol catabolic process cytoplasm|inclusion body aldo-keto reductase (NADP) activity|ferric iron binding|inositol oxygenase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 13 all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) CCCAGACAAGGGTGAGCCCTG 0.657000 19 24 0 0 1 0 0 BMP1 649 broad.mit.edu 37 8 22054265 22054265 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:22054265C>T ENST00000306385.5 + 14 2508 c.1838C>T c.(1837-1839)cCc>cTc p.P613L BMP1_ENST00000397816.3_Missense_Mutation_p.P613L|BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000306349.8_Missense_Mutation_p.P613L NM_006129.4 NP_006120.1 P13497 BMP1_HUMAN bone morphogenetic protein 1 613 CUB 3. 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) GAGTACCCCCCCAACAAGAAC 0.602000 22 33 0 0 1 0 0 SELE 6401 broad.mit.edu 37 1 169696637 169696637 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:169696637C>T ENST00000333360.7 - 10 1637 c.1498G>A c.(1498-1500)Gga>Aga p.G500R SELE_ENST00000367777.1_Missense_Mutation_p.G437R|SELE_ENST00000367780.4_Missense_Mutation_p.G375R|SELE_ENST00000367781.4_Missense_Mutation_p.G437R|SELE_ENST00000367774.1_Missense_Mutation_p.G374R|SELE_ENST00000367776.1_Missense_Mutation_p.G437R|SELE_ENST00000367779.4_Missense_Mutation_p.G374R|SELE_ENST00000367782.4_Missense_Mutation_p.G437R|SELE_ENST00000367775.1_Missense_Mutation_p.G375R|C1orf112_ENST00000498289.1_Intron NM_000450.2 NP_000441.2 P16581 LYAM2_HUMAN selectin E 500 Sushi 6. actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 all_hematologic(923;0.208) TTGATCTTTCCCGGAACTGCC 0.488000 13 20 0 0 1 0 0 KIF2B 84643 broad.mit.edu 37 17 51900837 51900837 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:51900837C>T ENST00000268919.4 + 1 599 c.443C>T c.(442-444)cCc>cTc p.P148L NM_032559.4 NP_115948.4 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 148 P -> S (in dbSNP:rs59657238). 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 AAAAAGTCTCCCTGCCTCTGG 0.567000 48 60 0 0 1 0 0 MRGPRX2 117194 broad.mit.edu 37 11 19077805 19077805 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:19077805C>T ENST00000329773.2 - 2 232 c.145G>A c.(145-147)Ggg>Agg p.G49R NM_054030.2 NP_473371.1 Q96LB1 MRGX2_HUMAN MAS-related GPR, member X2 49 sensory perception of pain|sleep plasma membrane G-protein coupled receptor activity|neuropeptide binding NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1) 15 AGCACAAACCCGTTTCCTACC 0.582000 44 99 0 0 1 0 0 OR6C65 403282 broad.mit.edu 37 12 55794384 55794384 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:55794384G>A ENST00000379665.2 + 1 171 c.72G>A c.(70-72)gtG>gtA p.V24V NM_001005518.1 NP_001005518.1 A6NJZ3 O6C65_HUMAN olfactory receptor, family 6, subfamily C, member 65 24 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(2)|large_intestine(3)|lung(9) 15 TACAAGTTGTGATATTCTTCT 0.318000 20 12 0 0 1 0 0 AMPH 273 broad.mit.edu 37 7 38462075 38462075 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:38462075G>A ENST00000356264.2 - 16 1433 c.1218C>T c.(1216-1218)ccC>ccT p.P406P AMPH_ENST00000325590.5_Silent_p.P406P|AMPH_ENST00000471913.1_5'UTR|AMPH_ENST00000428293.2_Silent_p.P406P NM_001635.3 NP_001626.1 P49418 AMPH_HUMAN amphiphysin 406 endocytosis|synaptic transmission actin cytoskeleton|cell junction|synaptic vesicle membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2) 62 AAGTATCCTGGGGCTGAAAAT 0.353000 54 83 0 0 1 0 0 UNC13C 440279 broad.mit.edu 37 15 54804025 54804025 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr15:54804025G>A ENST00000545554.1 + 23 5454 c.5454G>A c.(5452-5454)aaG>aaA p.K1818K UNC13C_ENST00000260323.11_Silent_p.K1818K|UNC13C_ENST00000537900.1_Silent_p.K1816K Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 1818 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) TGGGAGGGAAGGAGGTGGGTA 0.343000 6 5 0 0 1 0 0 UBXN2B 137886 broad.mit.edu 37 8 59359986 59359986 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:59359986C>T ENST00000399598.2 + 8 994 c.872C>T c.(871-873)cCt>cTt p.P291L NM_001077619.1 NP_001071087.1 Q14CS0 UBX2B_HUMAN UBX domain protein 2B 291 UBX. cytosol|endoplasmic reticulum|Golgi apparatus|nucleus endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 13 CAGTCTCGTCCTGAATTTGCG 0.333000 30 50 0 0 1 0 0 KEL 3792 broad.mit.edu 37 7 142651377 142651377 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:142651377G>A ENST00000355265.2 - 8 1292 c.818C>T c.(817-819)tCc>tTc p.S273F KEL_ENST00000479768.2_5'UTR NM_000420.2 NP_000411.1 P23276 KELL_HUMAN Kell blood group, metallo-endopeptidase 273 proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1) 60 Melanoma(164;0.059) GATTGACAAGGAAGAGTGTTC 0.542000 38 34 0 0 1 0 0 C14orf79 122616 broad.mit.edu 37 14 105452939 105452939 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr14:105452939C>T ENST00000547315.1 + 1 810 c.171C>T c.(169-171)ccC>ccT p.P57P NM_174891.3 NP_777551.2 Q96F83 CN079_HUMAN chromosome 14 open reading frame 79 57 breast(1)|endometrium(1)|lung(1) 3 all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.00326)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0181) TCTCCATGCCCCGTGAGGGCG 0.597000 24 50 0 0 1 0 0 EPHA8 2046 broad.mit.edu 37 1 22927811 22927811 + Silent SNP C C T rs150592901 byFrequency TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:22927811C>T ENST00000166244.3 + 16 2820 c.2748C>T c.(2746-2748)ttC>ttT p.F916F NM_020526.3 NP_065387.1 P29322 EPHA8_HUMAN EPH receptor A8 916 integral to plasma membrane ATP binding|ephrin receptor activity breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 61 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) CCCCTGCCTTCGTCCGGAGCT 0.687000 38 42 0 0 1 0 0 GLDC 2731 broad.mit.edu 37 9 6533116 6533116 + Silent SNP C C T rs146045718 byFrequency TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr9:6533116C>T ENST00000321612.6 - 25 3114 c.2964G>A c.(2962-2964)cgG>cgA p.R988R NM_000170.2 NP_000161.2 P23378 GCSP_HUMAN glycine dehydrogenase (decarboxylating) 988 glycine catabolic process mitochondrion electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 Acute lymphoblastic leukemia(23;0.161) GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) TGTCATCAATCCGGGCAATCG 0.458000 64 18 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 2967749 2967749 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:2967749G>A ENST00000520002.1 - 44 7097 c.6542C>T c.(6541-6543)cCa>cTa p.P2181L CSMD1_ENST00000602723.1_Missense_Mutation_p.P2181L|CSMD1_ENST00000400186.3_Missense_Mutation_p.P2181L|CSMD1_ENST00000537824.1_Missense_Mutation_p.P2180L|CSMD1_ENST00000602557.1_Missense_Mutation_p.P2181L|CSMD1_ENST00000542608.1_Missense_Mutation_p.P2180L Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 2181 CUB 13. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TCCGTGCCCTGGAGGCACCGT 0.483000 6 11 0 0 1 0 0 LMTK3 114783 broad.mit.edu 37 19 49000677 49000677 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:49000677G>A ENST00000600059.1 - 11 3876 c.3649C>T c.(3649-3651)Cct>Tct p.P1217S LMTK3_ENST00000270238.3_Missense_Mutation_p.P1246S lemur tyrosine kinase 3 breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1) 16 all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231) TTCCCCTGAGGGGGTCCCAAG 0.672000 16 49 0 0 1 0 0 MITF 4286 broad.mit.edu 37 3 70008443 70008443 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:70008443G>A ENST00000352241.4 + 9 1196 c.1033G>A c.(1033-1035)Gga>Aga p.G345R MITF_ENST00000531774.1_Missense_Mutation_p.G182R|MITF_ENST00000328528.6_Missense_Mutation_p.G344R|MITF_ENST00000394355.2_Missense_Mutation_p.G320R|MITF_ENST00000314589.5_Missense_Mutation_p.G329R|MITF_ENST00000394351.3_Missense_Mutation_p.G244R|MITF_ENST00000448226.2_Missense_Mutation_p.G351R|MITF_ENST00000472437.1_Missense_Mutation_p.G293R|MITF_ENST00000314557.6_Missense_Mutation_p.G238R NM_198159.2 NP_937802.1 O75030 MITF_HUMAN microphthalmia-associated transcription factor 351 Helix-loop-helix motif. melanocyte differentiation|multicellular organismal development|protein complex assembly nucleus|protein complex DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription p.G244R(1) NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2) 30 Lung NSC(201;0.0384)|Prostate(884;0.0526) BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239) CTGGAACAAGGGAACCATCTT 0.418000 A melanoma """Waardenburg syndrome type 2, Tietz syndrome""" 13 36 0 0 1 0 0 RBM27 54439 broad.mit.edu 37 5 145610319 145610319 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:145610319C>T ENST00000265271.5 + 6 855 c.689C>T c.(688-690)tCc>tTc p.S230F RBM27_ENST00000506502.1_Missense_Mutation_p.S230F NM_018989.1 NP_061862.1 Q9P2N5 RBM27_HUMAN RNA binding motif protein 27 230 mRNA processing cytoplasm|nuclear speck nucleotide binding|RNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 39 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GAGCAGTATTCCTCTGGGGCA 0.463000 27 37 0 0 1 0 0 KRTAP5-1 387264 broad.mit.edu 37 11 1605991 1605991 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:1605991G>A ENST00000382171.2 - 1 522 c.489C>T c.(487-489)tcC>tcT p.S163S KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA NM_001005922.1 NP_001005922.1 Q6L8H4 KRA51_HUMAN keratin associated protein 5-1 163 8 X 4 AA repeats of C-C-X-P. keratin filament endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1) 16 all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) AGGCCCCCTTGGAGCACCCAC 0.652000 46 107 0 0 1 0 0 TMEM135 65084 broad.mit.edu 37 11 86778790 86778790 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:86778790C>T ENST00000340353.7 + 2 398 c.196C>T c.(196-198)Cct>Tct p.P66S TMEM135_ENST00000305494.5_Missense_Mutation_p.P66S|TMEM135_ENST00000355734.4_Missense_Mutation_p.P66S|TMEM135_ENST00000532959.1_Intron|TMEM135_ENST00000535167.1_5'UTR NM_001168724.1 NP_001162195.1 Q86UB9 TM135_HUMAN transmembrane protein 135 66 integral to membrane NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 17 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) CAAACTACTCCCTGAGATCCT 0.373000 25 41 0 0 1 0 0 ZBTB46 140685 broad.mit.edu 37 20 62421395 62421395 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr20:62421395C>T ENST00000245663.4 - 2 866 c.716G>A c.(715-717)gGa>gAa p.G239E ZBTB46_ENST00000395104.1_Missense_Mutation_p.G239E|ZBTB46_ENST00000302995.2_Missense_Mutation_p.G239E NM_025224.3 NP_079500.2 Q86UZ6 ZBT46_HUMAN zinc finger and BTB domain containing 46 239 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 24 all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09) CTCGCTCCCTCCGTACTGAGA 0.582000 35 30 0 0 1 0 0 ZDHHC3 51304 broad.mit.edu 37 3 44986677 44986677 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:44986677G>A ENST00000296127.3 - 3 687 c.414C>T c.(412-414)gaC>gaT p.D138D ZDHHC3_ENST00000424952.2_Silent_p.D138D|ZDHHC3_ENST00000342790.4_Silent_p.D172D NM_016598.2 NP_057682.1 Q9NYG2 ZDHC3_HUMAN zinc finger, DHHC-type containing 3 138 Golgi membrane|integral to membrane zinc ion binding endometrium(1)|large_intestine(3)|lung(4) 8 BRCA - Breast invasive adenocarcinoma(193;0.00943)|KIRC - Kidney renal clear cell carcinoma(197;0.053)|Kidney(197;0.0665) GGTGGGCTCGGTCGGGCTTGA 0.577000 47 64 0 0 1 0 0 CYLC1 1538 broad.mit.edu 37 X 83128942 83128942 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:83128942C>T ENST00000329312.4 + 4 1263 c.1226C>T c.(1225-1227)tCt>tTt p.S409F NM_021118.1 NP_066941.1 P35663 CYLC1_HUMAN cylicin, basic protein of sperm head cytoskeleton 1 409 cell differentiation|multicellular organismal development|spermatogenesis acrosomal matrix|cytoskeletal calyx structural molecule activity NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 58 TCTACTGATTCTGAATCTGAA 0.318000 13 11 0 0 1 0 0 KRTAP10-7 386675 broad.mit.edu 37 21 46021343 46021343 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr21:46021343C>T ENST00000380102.2 + 1 847 c.822C>T c.(820-822)gtC>gtT p.V274V TSPEAR_ENST00000323084.4_Intron NM_198689.2 NP_941962.1 P60409 KR107_HUMAN keratin associated protein 10-7 274 30 X 5 AA repeats of C-C-X(3). keratin filament breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 8 GCGTGCCCGTCTGCTGTAAGC 0.627000 91 50 0 0 1 0 0 STRIP2 57464 broad.mit.edu 37 7 129125494 129125494 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:129125494C>T ENST00000249344.2 + 21 2369 c.2329C>T c.(2329-2331)Cgt>Tgt p.R777C NM_020704.2 NP_065755.1 striatin interacting protein 2 TTTTAACAGCCGTCGCTATGA 0.498000 28 35 0 0 1 0 0 FAM46D 169966 broad.mit.edu 37 X 79698393 79698393 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:79698393G>A ENST00000538312.1 + 5 689 c.355G>A c.(355-357)Gaa>Aaa p.E119K FAM46D_ENST00000308293.5_Missense_Mutation_p.E119K NM_001170574.1 NP_001164045.1 Q8NEK8 FA46D_HUMAN family with sequence similarity 46, member D 119 kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 23 TGTAAAGAAGGAAAAGCTCTC 0.378000 42 93 0 0 1 0 0 TARBP1 6894 broad.mit.edu 37 1 234586268 234586268 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:234586268G>A ENST00000040877.1 - 10 1766 c.1767C>T c.(1765-1767)tcC>tcT p.S589S NM_005646.3 NP_005637.3 Q13395 TARB1_HUMAN TAR (HIV-1) RNA binding protein 1 589 regulation of transcription from RNA polymerase II promoter|RNA processing nucleus RNA binding|RNA methyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4) 55 Ovarian(103;0.0339) all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172) OV - Ovarian serous cystadenocarcinoma(106;0.000263) TACACGTAGGGGATGGCTTAA 0.353000 17 31 0 0 1 0 0 CHD2 1106 broad.mit.edu 37 15 93486190 93486190 + Missense_Mutation SNP C C G TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr15:93486190C>G ENST00000394196.4 + 9 2012 c.944C>G c.(943-945)tCt>tGt p.S315C CHD2_ENST00000536619.1_Missense_Mutation_p.S328C|CHD2_ENST00000420239.2_Missense_Mutation_p.S315C|CHD2_ENST00000557381.1_Missense_Mutation_p.S315C NM_001271.3 NP_001262.3 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 315 Chromo 1. regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 47 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) AAGGGTTGGTCTTACATCCAC 0.428000 32 43 0 0 1 0 0 ATP9A 10079 broad.mit.edu 37 20 50255951 50255951 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr20:50255951G>A ENST00000338821.5 - 15 1863 c.1599C>T c.(1597-1599)atC>atT p.I533I ATP9A_ENST00000402822.1_Silent_p.I412I|ATP9A_ENST00000311637.5_Silent_p.I397I NM_006045.1 NP_006036.1 O75110 ATP9A_HUMAN ATPase, class II, type 9A 533 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 TGAAGTTCAGGATCTGGTCGC 0.522000 OREG0026043 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 41 76 0 0 1 0 0 PITPNM2 57605 broad.mit.edu 37 12 123481402 123481402 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:123481402G>A ENST00000280562.5 - 11 1733 c.1528C>T c.(1528-1530)Ccc>Tcc p.P510S PITPNM2_ENST00000542749.1_Missense_Mutation_p.P510S|PITPNM2_ENST00000392428.1_Missense_Mutation_p.P231S|PITPNM2_ENST00000320201.4_Missense_Mutation_p.P510S Q9BZ72 PITM2_HUMAN phosphatidylinositol transfer protein, membrane-associated 2 510 metabolic process|transport endomembrane system|integral to membrane|intracellular membrane-bounded organelle calcium ion binding|lipid binding NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 39 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123) GCAGCCAGGGGAATGTGGTCC 0.637000 25 58 0 0 1 0 0 PDE6C 5146 broad.mit.edu 37 10 95399918 95399918 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:95399918G>A ENST00000371447.3 + 12 1712 c.1574G>A c.(1573-1575)gGa>gAa p.G525E NM_006204.3 NP_006195.3 P51160 PDE6C_HUMAN phosphodiesterase 6C, cGMP-specific, cone, alpha prime 525 visual perception plasma membrane 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 42 Colorectal(252;0.123) ATTAAATGTGGAATACGACTG 0.413000 54 81 0 0 1 0 0 WDR60 55112 broad.mit.edu 37 7 158718982 158718982 + Missense_Mutation SNP A A T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:158718982A>T ENST00000407559.3 + 18 2520 c.2362A>T c.(2362-2364)Act>Tct p.T788S NM_018051.4 NP_060521.4 Q8WVS4 WDR60_HUMAN WD repeat domain 60 788 NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2) 35 Ovarian(565;0.152) all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603) OV - Ovarian serous cystadenocarcinoma(82;0.00174) UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18) ACCCTTTTCTACTCAAGAAGG 0.388000 8 17 0 0 1 0 0 RNF130 55819 broad.mit.edu 37 5 179440081 179440081 + Missense_Mutation SNP T T A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:179440081T>A ENST00000522208.2 - 3 691 c.673A>T c.(673-675)Aat>Tat p.N225Y RNF130_ENST00000521389.1_Missense_Mutation_p.N225Y|RNF130_ENST00000261947.4_Missense_Mutation_p.N225Y Q86XS8 GOLI_HUMAN ring finger protein 130 225 apoptosis cytoplasm|integral to membrane|nucleus ubiquitin-protein ligase activity|zinc ion binding breast(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(2) 17 all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212) all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TCGCGTGCATTTGTGTACCTG 0.433000 59 85 0 0 1 0 0 DDX53 168400 broad.mit.edu 37 X 23019811 23019811 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:23019811G>A ENST00000327968.5 + 1 1725 c.1637G>A c.(1636-1638)aGg>aAg p.R546K RP11-40F8.2_ENST00000455399.1_RNA NM_182699.3 NP_874358.2 Q86TM3 DDX53_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 53 546 Helicase C-terminal. nucleus ATP binding|ATP-dependent helicase activity|RNA binding breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2) 35 GATTTCCCAAGGAATATTGAC 0.383000 61 81 0 0 1 0 0 REPS2 9185 broad.mit.edu 37 X 17040363 17040363 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:17040363C>T ENST00000357277.3 + 3 686 c.515C>T c.(514-516)tCc>tTc p.S172F REPS2_ENST00000303843.7_Missense_Mutation_p.S172F|REPS2_ENST00000380064.4_Missense_Mutation_p.S33F NM_001080975.1|NM_004726.2 NP_001074444.1|NP_004717.2 Q8NFH8 REPS2_HUMAN RALBP1 associated Eps domain containing 2 172 epidermal growth factor receptor signaling pathway|protein complex assembly cytoplasm calcium ion binding|protein binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1) 17 Hepatocellular(33;0.183) GAAAAAAATTCCTTCAAAAGA 0.393000 27 56 0 0 1 0 0 PGBD1 84547 broad.mit.edu 37 6 28254883 28254883 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr6:28254883C>T ENST00000405948.2 + 4 1000 c.580C>T c.(580-582)Ctc>Ttc p.L194F PGBD1_ENST00000259883.3_Missense_Mutation_p.L194F NM_001184743.1|NM_032507.3 NP_001171672.1|NP_115896.1 Q96JS3 PGBD1_HUMAN piggyBac transposable element derived 1 194 viral reproduction membrane|nucleus scavenger receptor activity|sequence-specific DNA binding transcription factor activity endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 41 ATCAGCTCATCTCCAGGAAAA 0.512000 26 16 0 0 1 0 0 SLC7A1 6541 broad.mit.edu 37 13 30098370 30098370 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr13:30098370G>A ENST00000380752.5 - 6 1111 c.725C>T c.(724-726)cCc>cTc p.P242L NM_003045.4 NP_003036.1 P30825 CTR1_HUMAN solute carrier family 7 (cationic amino acid transporter, y+ system), member 1 242 cellular nitrogen compound metabolic process|ion transport integral to plasma membrane receptor activity endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2) 24 Lung SC(185;0.0257)|Breast(139;0.238) all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179) L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129) ACCAACACCGGGCTTCCCTTC 0.542000 15 24 0 0 1 0 0 DCD 117159 broad.mit.edu 37 12 55039040 55039040 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:55039040C>T ENST00000456047.2 - 4 395 c.206G>A c.(205-207)gGc>gAc p.G69D DCD_ENST00000293371.6_Missense_Mutation_p.G69D P81605 DCD_HUMAN dermcidin 69 defense response to bacterium|defense response to fungus|killing of cells of other organism extracellular region protein binding large_intestine(2)|lung(2)|ovary(1)|skin(1) 6 Myeloproliferative disorder(1001;0.0255) TCCGTCTAGGCCTTTTTCTAG 0.488000 28 47 0 0 1 0 0 IL1RAPL1 11141 broad.mit.edu 37 X 29417302 29417302 + Missense_Mutation SNP A A T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:29417302A>T ENST00000378993.1 + 5 1253 c.580A>T c.(580-582)Att>Ttt p.I194F IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.I194F NM_014271.3 NP_055086.1 Q9NZN1 IRPL1_HUMAN interleukin 1 receptor accessory protein-like 1 194 Ig-like C2-type 2. innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development cytoplasm|integral to membrane|plasma membrane protein binding|transmembrane receptor activity biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 GAGGCCAAGTATTGTATTCAA 0.313000 31 22 0 0 1 0 0 SCRIB 23513 broad.mit.edu 37 8 144887384 144887384 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:144887384G>A ENST00000356994.2 - 19 2574 c.2568C>T c.(2566-2568)ccC>ccT p.P856P SCRIB_ENST00000320476.3_Silent_p.P856P|SCRIB_ENST00000377533.3_Silent_p.P775P NM_182706.4 NP_874365.3 Q14160 SCRIB_HUMAN scribbled planar cell polarity protein 856 Interaction with ARHGEF7. activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction cell-cell adherens junction|Scrib-APC-beta-catenin complex protein binding NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 42 all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18) GCTGACGGAGGGGCCCGGGGC 0.716000 5 4 0 0 1 0 0 PHF12 57649 broad.mit.edu 37 17 27240231 27240231 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:27240231G>A ENST00000577226.1 - 9 1704 c.1358C>T c.(1357-1359)cCt>cTt p.P453L PHF12_ENST00000332830.4_Missense_Mutation_p.P453L|PHF12_ENST00000582655.1_5'UTR|PHF12_ENST00000268756.3_Missense_Mutation_p.P453L Q96QT6 PHF12_HUMAN PHD finger protein 12 453 Interaction with SIN3A. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 30 all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01) Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05) CCAATGCGAAGGCATCTGCTT 0.498000 53 77 0 0 1 0 0 MST1R 4486 broad.mit.edu 37 3 49934739 49934739 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:49934739G>A ENST00000296474.3 - 7 2184 c.2157C>T c.(2155-2157)gtC>gtT p.V719V MST1R_ENST00000344206.4_Silent_p.V719V NM_002447.2 NP_002438.2 Q04912 RON_HUMAN macrophage stimulating 1 receptor (c-met-related tyrosine kinase) 719 IPT/TIG 2. cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane ATP binding|macrophage colony-stimulating factor receptor activity|protein binding cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3) 37 BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625) CAGTCCCATTGACCAGCACAG 0.602000 29 66 0 0 1 0 0 ZNRF3 84133 broad.mit.edu 37 22 29445853 29445853 + Missense_Mutation SNP T T A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr22:29445853T>A ENST00000544604.2 + 8 1859 c.1684T>A c.(1684-1686)Tgt>Agt p.C562S ZNRF3_ENST00000332811.4_Missense_Mutation_p.C462S|ZNRF3_ENST00000406323.3_Missense_Mutation_p.C462S|ZNRF3_ENST00000402174.1_Missense_Mutation_p.C462S NM_001206998.1 NP_001193927.1 Q9ULT6 ZNRF3_HUMAN zinc and ring finger 3 562 integral to membrane zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 28 CCAGTGCCACTGTTCCTCCAG 0.637000 37 38 0 0 1 0 0 MYO9A 4649 broad.mit.edu 37 15 72191138 72191138 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr15:72191138C>T ENST00000356056.5 - 25 4178 c.3706G>A c.(3706-3708)Gag>Aag p.E1236K MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000564571.1_Missense_Mutation_p.E1236K|MYO9A_ENST00000444904.1_Missense_Mutation_p.E1217K|MYO9A_ENST00000424560.1_Missense_Mutation_p.E1236K|MYO9A_ENST00000566885.1_Missense_Mutation_p.E856K NM_006901.3 NP_008832.2 B2RTY4 MYO9A_HUMAN myosin IXA 1236 Tail. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception cytosol|integral to membrane|unconventional myosin complex actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 TGGGCTCTCTCCTGCTGCTTG 0.458000 64 112 0 0 1 0 0 ZNF727 442319 broad.mit.edu 37 7 63538590 63538590 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:63538590G>A ENST00000550760.3 + 4 1342 c.1163G>A c.(1162-1164)aGa>aAa p.R388K NM_001159522.1 NP_001152994.1 A8MUV8 ZN727_HUMAN zinc finger protein 727 388 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(2)|skin(1)|stomach(1)|urinary_tract(1) 8 AATCATAAGAGAATTCACACT 0.373000 10 7 0 0 1 0 0 CFAP221 200373 broad.mit.edu 37 2 120362333 120362333 + Nonsense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:120362333C>T ENST00000602047.1 + 10 1131 c.19C>T c.(19-21)Cga>Tga p.R7* PCDP1_ENST00000413369.3_Nonsense_Mutation_p.R293*|PCDP1_ENST00000597189.1_3'UTR Q4G0U5 PCDP1_HUMAN 293 cilium calmodulin binding Colorectal(110;0.196) AAATTTTCACCGACCGCCAGC 0.448000 22 44 0 0 1 0 0 NBAS 51594 broad.mit.edu 37 2 15567889 15567889 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:15567889G>A ENST00000281513.5 - 22 2394 c.2369C>T c.(2368-2370)cCt>cTt p.P790L NBAS_ENST00000441750.1_Missense_Mutation_p.P790L NM_015909.3 NP_056993.2 A2RRP1 NBAS_HUMAN neuroblastoma amplified sequence 790 NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3) 112 TTCATGCCAAGGAATGATCAT 0.403000 6 14 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 89949315 89949315 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:89949315C>T ENST00000405460.2 + 20 4020 c.3924C>T c.(3922-3924)ttC>ttT p.F1308F NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 1308 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) TTGGAATTTTCCCCACCACCG 0.483000 10 14 0 0 1 0 0 NOX1 27035 broad.mit.edu 37 X 100117396 100117396 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:100117396C>T ENST00000372966.3 - 6 861 c.656G>A c.(655-657)gGg>gAg p.G219E NOX1_ENST00000372964.1_Intron|NOX1_ENST00000217885.5_Missense_Mutation_p.G219E|NOX1_ENST00000372960.4_Missense_Mutation_p.G182E NM_007052.4|NM_013955.2 NP_008983.2|NP_039249.1 Q9Y5S8 NOX1_HUMAN NADPH oxidase 1 219 Ferric oxidoreductase. angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation cell junction|early endosome|invadopodium membrane|NADPH oxidase complex electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity cervix(1)|lung(3)|ovary(1)|skin(2) 7 GCCGTGAATCCCTAAGCCAAG 0.433000 86 173 0 0 1 0 0 CNTN5 53942 broad.mit.edu 37 11 100061937 100061937 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:100061937G>A ENST00000524871.1 + 14 1950 c.1660G>A c.(1660-1662)Gaa>Aaa p.E554K CNTN5_ENST00000527185.1_Missense_Mutation_p.E554K|CNTN5_ENST00000418526.2_Missense_Mutation_p.E480K|CNTN5_ENST00000279463.3_Missense_Mutation_p.E554K|CNTN5_ENST00000524560.1_3'UTR|CNTN5_ENST00000528682.1_Missense_Mutation_p.E554K NM_014361.3 NP_055176.1 O94779 CNTN5_HUMAN contactin 5 554 Ig-like C2-type 5. cell adhesion anchored to membrane|plasma membrane protein binding NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) TTGCCGAGGGGAAAACGTCTT 0.408000 11 19 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 90106721 90106721 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:90106721C>T ENST00000405460.2 + 74 15740 c.15644C>T c.(15643-15645)tCc>tTc p.S5215F GPR98_ENST00000425867.2_Missense_Mutation_p.S876F NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 5215 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 p.S5215F(1) 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) GCCAATGTTTCCATTCATGGA 0.458000 28 39 0 0 1 0 0 OR4D10 390197 broad.mit.edu 37 11 59245051 59245051 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:59245051C>T ENST00000530162.1 + 1 206 c.149C>T c.(148-150)aCc>aTc p.T50I NM_001004705.1 NP_001004705.1 Q8NGI6 OR4DA_HUMAN olfactory receptor, family 4, subfamily D, member 10 50 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 GTCACTGTTACCTGTGAATCT 0.448000 52 107 0 0 1 0 0 OR14C36 127066 broad.mit.edu 37 1 248512100 248512100 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:248512100G>A ENST00000317861.1 + 1 24 c.24G>A c.(22-24)atG>atA p.M8I NM_001001918.1 NP_001001918.1 Q8NHC7 O14CZ_HUMAN olfactory receptor, family 14, subfamily C, member 36 8 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2) 43 CCACCGTGATGGAATTTCTCC 0.413000 19 15 0 0 1 0 0 MXD1 4084 broad.mit.edu 37 2 70162484 70162484 + Splice_Site SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:70162484C>T ENST00000264444.2 + 4 465 c.203_splice c.e4-1 p.R69_splice MXD1_ENST00000540449.1_Splice_Site_p.R59_splice NM_001202513.1|NM_001202514.1|NM_002357.3 NP_001189442.1|NP_001189443.1|NP_002348.1 Q05195 MAD1_HUMAN MAX dimerization protein 1 69 cell proliferation|multicellular organismal development mitochondrion|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity breast(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1) 7 TTTTCATAGACGGGCTCATCT 0.498000 16 31 0 0 1 0 0 TPRX1 284355 broad.mit.edu 37 19 48305272 48305272 + Silent SNP G G A rs149923413 TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:48305272G>A ENST00000535759.1 - 4 1286 c.1287C>T c.(1285-1287)ccC>ccT p.P429P TPRX1_ENST00000543508.1_Silent_p.P322P|TPRX1_ENST00000322175.3_Silent_p.P332P Q8N7U7 TPRX1_HUMAN tetra-peptide repeat homeobox 1 332 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1) 18 all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133) OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048) GAGGCCATAAGggggctgggg 0.622000 18 32 0 0 1 0 0 NOTCH2 4853 broad.mit.edu 37 1 120512305 120512305 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:120512305C>T ENST00000256646.2 - 6 1156 c.937G>A c.(937-939)Ggc>Agc p.G313S NM_024408.3 NP_077719.2 Q04721 NOTC2_HUMAN notch 2 313 EGF-like 8; calcium-binding (Potential). anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity p.G313C(1) breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) GCACAGGTGCCCCCATTTTGA 0.512000 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 16 25 0 0 1 0 0 PRKDC 5591 broad.mit.edu 37 8 48826618 48826618 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:48826618G>A ENST00000314191.2 - 24 2680 c.2624C>T c.(2623-2625)tCc>tTc p.S875F PRKDC_ENST00000338368.3_Missense_Mutation_p.S875F|PRKDC_ENST00000523565.1_5'UTR NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 875 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) CTCATCTGAGGACGTGACTGT 0.388000 Non-homologous end-joining 17 29 0 0 1 0 0 PTPN12 5782 broad.mit.edu 37 7 77240343 77240343 + Nonsense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:77240343C>T ENST00000248594.6 + 11 1191 c.919C>T c.(919-921)Cag>Tag p.Q307* PTPN12_ENST00000415482.2_Nonsense_Mutation_p.Q188*|PTPN12_ENST00000435495.2_Nonsense_Mutation_p.Q177* NM_002835.3 NP_002826.3 Q05209 PTN12_HUMAN protein tyrosine phosphatase, non-receptor type 12 307 soluble fraction non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 39 TCATGGAGCTCAGAAAATTGC 0.323000 59 93 0 0 1 0 0 GPKOW 27238 broad.mit.edu 37 X 48974028 48974028 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:48974028C>T ENST00000156109.5 - 5 781 c.703G>A c.(703-705)Gaa>Aaa p.E235K NM_015698.4 NP_056513.2 Q92917 GPKOW_HUMAN G patch domain and KOW motifs 235 nucleus nucleic acid binding breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2) 21 GGCTGATCTTCCTTATCTTTC 0.607000 29 50 0 0 1 0 0 ITGA8 8516 broad.mit.edu 37 10 15760852 15760852 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:15760852C>T ENST00000378076.3 - 2 609 c.256G>A c.(256-258)Gat>Aat p.D86N NM_003638.1 NP_003629.1 P53708 ITA8_HUMAN integrin, alpha 8 86 cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development integrin complex receptor activity NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 96 TCCACGATATCGGGCTGGCTG 0.577000 33 71 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10440653 10440653 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:10440653C>T ENST00000245503.5 - 16 2178 c.1794G>A c.(1792-1794)gaG>gaA p.E598E MYH2_ENST00000397183.2_Silent_p.E598E|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Silent_p.E598E NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 598 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 CCTTGTTCTTCTCCAGCCAGC 0.522000 58 98 0 0 1 0 0 DUSP12 11266 broad.mit.edu 37 1 161722871 161722871 + Silent SNP A A T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:161722871A>T ENST00000367943.4 + 5 713 c.681A>T c.(679-681)tcA>tcT p.S227S DUSP12_ENST00000484291.1_3'UTR NM_007240.1 NP_009171.1 Q9UNI6 DUS12_HUMAN dual specificity phosphatase 12 227 positive regulation of glucokinase activity cytoplasm|nucleus protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|zinc ion binding breast(1)|endometrium(2)|kidney(1)|lung(1) 5 all_hematologic(112;0.0359) BRCA - Breast invasive adenocarcinoma(70;0.00634) GCAGGCGATCATTATTTCGAA 0.413000 52 55 0 0 1 0 0 LRP2 4036 broad.mit.edu 37 2 170177351 170177351 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:170177351G>A ENST00000263816.3 - 2 408 c.123C>T c.(121-123)atC>atT p.I41I LRP2_ENST00000443831.1_Silent_p.I41I NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 41 LDL-receptor class A 1. 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) AGTCTGCAGGGATGCAATGCC 0.453000 28 42 0 0 1 0 0 CES1 1066 broad.mit.edu 37 16 55846853 55846853 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr16:55846853C>T ENST00000422046.2 - 9 1326 c.1045G>A c.(1045-1047)Gga>Aga p.G349R CES1_ENST00000360526.3_Missense_Mutation_p.G350R|CES1_ENST00000361503.4_Missense_Mutation_p.G349R P23141 EST1_HUMAN carboxylesterase 1 349 response to toxin endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity all cancers(182;0.13)|Epithelial(162;0.137) Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691) TTGTTAATTCCGACCATGTAG 0.512000 40 106 0 0 1 0 0 VCAM1 7412 broad.mit.edu 37 1 101188698 101188698 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:101188698G>A ENST00000294728.2 + 3 564 c.463G>A c.(463-465)Gga>Aga p.G155R VCAM1_ENST00000370119.4_Missense_Mutation_p.G93R|VCAM1_ENST00000370115.1_Missense_Mutation_p.G155R|VCAM1_ENST00000347652.2_Missense_Mutation_p.G155R NM_001078.3 NP_001069.1 P19320 VCAM1_HUMAN vascular cell adhesion molecule 1 155 Ig-like C2-type 2. heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome cell adhesion molecule binding|integrin binding central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011) Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196) Carvedilol(DB01136) CTTACTGAAAGGAGATCATCT 0.468000 12 29 0 0 1 0 0 ZNF812 729648 broad.mit.edu 37 19 9800843 9800843 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:9800843C>T ENST00000457674.2 - 5 1854 c.1336G>A c.(1336-1338)Gaa>Aaa p.E446K ZNF812_ENST00000536819.1_5'UTR NM_001199814.1 NP_001186743.1 P0C7V5 ZN812_HUMAN zinc finger protein 812 446 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 cccTTATATTCATAGGGTTCC 0.388000 5 3 0 0 1 0 0 GYS1 2997 broad.mit.edu 37 19 49494739 49494739 + Splice_Site SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:49494739C>T ENST00000323798.3 - 2 316 c.118_splice c.e2-1 p.V40_splice GYS1_ENST00000541188.1_Intron|GYS1_ENST00000263276.6_Splice_Site_p.V40_splice|GYS1_ENST00000540532.1_Intron|GYS1_ENST00000544287.1_Intron|GYS1_ENST00000457974.1_5'UTR NM_002103.4 NP_002094.2 P13807 GYS1_HUMAN glycogen synthase 1 (muscle) 40 glucose metabolic process|glycogen biosynthetic process cytosol glycogen (starch) synthase activity|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286) AGATGCCACCCACTGTGGGCC 0.677000 67 110 0 0 1 0 0 PLCB1 23236 broad.mit.edu 37 20 8678311 8678311 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr20:8678311C>T ENST00000378641.3 + 11 1523 c.1048C>T c.(1048-1050)Cgc>Tgc p.R350C PLCB1_ENST00000378637.2_Missense_Mutation_p.R350C|PLCB1_ENST00000338037.6_Missense_Mutation_p.R350C NM_182734.1 NP_877398.1 Q9NQ66 PLCB1_HUMAN phospholipase C, beta 1 (phosphoinositide-specific) 350 PI-PLC X-box. activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity p.R350C(1) NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 95 TGAGATGTATCGCCAAGTGCT 0.522000 52 77 0 0 1 0 0 OR8K5 219453 broad.mit.edu 37 11 55927656 55927656 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:55927656G>A ENST00000313447.1 - 1 137 c.138C>T c.(136-138)atC>atT p.I46I NM_001004058.2 NP_001004058.2 Q8NH50 OR8K5_HUMAN olfactory receptor, family 8, subfamily K, member 5 46 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.I46I(1) large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 34 Esophageal squamous(21;0.00693) Lung NSC(402;0.197)|all_epithelial(135;0.236) TGGTCAAAATGATCATAGTTA 0.433000 37 74 0 0 1 0 0 DOCK1 1793 broad.mit.edu 37 10 128822988 128822988 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:128822988G>A ENST00000280333.6 + 15 1538 c.1429G>A c.(1429-1431)Gag>Aag p.E477K RP11-223P11.2_ENST00000420941.2_RNA|RP11-223P11.3_ENST00000594559.1_RNA|RP11-223P11.3_ENST00000594614.1_RNA|RP11-223P11.3_ENST00000599979.1_RNA|RP11-223P11.3_ENST00000601242.1_RNA|RP11-223P11.3_ENST00000601826.1_RNA|RP11-223P11.3_ENST00000595456.1_RNA NM_001380.3 NP_001371.1 Q14185 DOCK1_HUMAN dedicator of cytokinesis 1 477 DHR-1. apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction cytosol|membrane GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 72 all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14) BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115) AGCGATTTCAGAGTACAAATC 0.398000 5 8 0 0 1 0 0 RAI1 10743 broad.mit.edu 37 17 17699919 17699919 + Silent SNP C C T rs140500933 TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:17699919C>T ENST00000353383.1 + 3 4126 c.3657C>T c.(3655-3657)ctC>ctT p.L1219L RAI1_ENST00000261641.6_Silent_p.L1219L NM_030665.3 NP_109590.3 Q7Z5J4 RAI1_HUMAN retinoic acid induced 1 1219 cytoplasm|nucleus zinc ion binding breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7) 48 READ - Rectum adenocarcinoma(1115;0.0276) ACCGGCCCCTCCATGCGCTCA 0.652000 18 35 0 0 1 0 0 DHH 50846 broad.mit.edu 37 12 49484969 49484969 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:49484969G>A ENST00000266991.2 - 2 813 c.507C>T c.(505-507)gcC>gcT p.A169A RP11-386G11.8_ENST00000553174.1_RNA NM_021044.2 NP_066382.1 O43323 DHH_HUMAN desert hedgehog 169 cell-cell signaling|proteolysis extracellular space|plasma membrane calcium ion binding|peptidase activity|zinc ion binding breast(1)|large_intestine(3)|lung(4) 8 AGTCGAAGCCGGCTTCCACTG 0.592000 60 99 0 0 1 0 0 MED13L 23389 broad.mit.edu 37 12 116406782 116406782 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:116406782G>A ENST00000281928.3 - 28 6394 c.6188C>T c.(6187-6189)tCt>tTt p.S2063F NM_015335.4 NP_056150.1 Q71F56 MD13L_HUMAN mediator complex subunit 13-like 2063 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 85 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0407) ACCAATTCCAGAAGGAGAGCC 0.473000 36 33 0 0 1 0 0 TECPR1 25851 broad.mit.edu 37 7 97861195 97861195 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:97861195G>A ENST00000447648.2 - 13 2194 c.1895C>T c.(1894-1896)gCc>gTc p.A632V TECPR1_ENST00000379795.3_Missense_Mutation_p.A633V|TECPR1_ENST00000542604.1_Missense_Mutation_p.A562V Q7Z6L1 TCPR1_HUMAN tectonin beta-propeller repeat containing 1 632 PH. integral to membrane protein binding central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 CTGCTCCAGGGCCAAGCGCAC 0.657000 27 39 0 0 1 0 0 ETV6 2120 broad.mit.edu 37 12 12022503 12022503 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:12022503C>T ENST00000396373.4 + 5 883 c.609C>T c.(607-609)tcC>tcT p.S203S NM_001987.4 NP_001978.1 P41212 ETV6_HUMAN ets variant 6 203 cytoplasm|nucleolus protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238) breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36) CCCTCCGGTCCCCCCTGGACA 0.632000 T """NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5""" """congenital fibrosarcoma, multiple leukemia and lymphoma, secretory breast, MDS, ALL""" 86 159 0 0 1 0 0 ZNF614 80110 broad.mit.edu 37 19 52519834 52519834 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:52519834C>T ENST00000270649.6 - 5 1561 c.1017G>A c.(1015-1017)ggG>ggA p.G339G ZNF614_ENST00000356322.6_Intron NM_025040.3 NP_079316.2 Q8N883 ZN614_HUMAN zinc finger protein 614 339 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 24 all_neural(266;0.0505) GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177) AGGGTTTCTCCCCTGTATGAG 0.423000 52 77 0 0 1 0 0 ZNF687 57592 broad.mit.edu 37 1 151261021 151261021 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:151261021C>T ENST00000368879.2 + 3 2231 c.2133C>T c.(2131-2133)ccC>ccT p.P711P NM_020832.1 NP_065883.1 Q8N1G0 ZN687_HUMAN zinc finger protein 687 711 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|zinc ion binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2) 32 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) CAACCTGCCCCATGATGCTCC 0.572000 8 51 0 0 1 0 0 RPS6KA6 27330 broad.mit.edu 37 X 83374962 83374962 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:83374962C>T ENST00000262752.2 - 9 727 c.720G>A c.(718-720)atG>atA p.M240I RPS6KA6_ENST00000543399.1_Missense_Mutation_p.M240I NM_014496.4 NP_055311.1 Q9UK32 KS6A6_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 6 240 Protein kinase 1. axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 46 CTTCAGGAGCCATATACTCTA 0.368000 53 67 0 0 1 0 0 GAR1 54433 broad.mit.edu 37 4 110740164 110740164 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr4:110740164C>T ENST00000226796.6 + 4 641 c.377C>T c.(376-378)tCa>tTa p.S126L GAR1_ENST00000394631.3_Missense_Mutation_p.S126L NM_018983.3 NP_061856.1 Q9NY12 GAR1_HUMAN GAR1 ribonucleoprotein 126 rRNA processing|snRNA pseudouridine synthesis box H/ACA snoRNP complex|Cajal body cation channel activity|pseudouridine synthase activity|snoRNA binding kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1) 9 TAGTATTTTTCAGTTAAGTTG 0.299000 26 26 0 0 1 0 0 LILRA3 11026 broad.mit.edu 37 19 54802123 54802123 + Silent SNP G G A rs11574608 TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:54802123G>A ENST00000391745.1 - 10 1432 c.1116C>T c.(1114-1116)ttC>ttT p.F372F LILRA3_ENST00000391744.3_Silent_p.F291F|LILRA3_ENST00000251390.3_Silent_p.F355F leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) TGGTCAAAAGGAAAGTGTGCA 0.582000 38 57 0 0 1 0 0 TMED8 283578 broad.mit.edu 37 14 77812759 77812759 + Missense_Mutation SNP G G T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr14:77812759G>T ENST00000216468.7 - 3 315 c.260C>A c.(259-261)cCt>cAt p.P87H NM_213601.1 NP_998766.1 Q6PL24 TMED8_HUMAN transmembrane emp24 protein transport domain containing 8 87 transport integral to membrane breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4) 15 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0281) AGCCTCCAAAGGACCAGTTGC 0.512000 21 50 1.50039e-11 1.51719e-11 1 1 0 DNAH9 1770 broad.mit.edu 37 17 11520910 11520910 + Nonsense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:11520910C>T ENST00000262442.3 + 5 1155 c.1087C>T c.(1087-1089)Cag>Tag p.Q363* DNAH9_ENST00000579406.1_3'UTR|DNAH9_ENST00000454412.2_Nonsense_Mutation_p.Q363* NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 363 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) TGTGCTGCTCCAGGAGATTTG 0.622000 31 53 0 0 1 0 0 TG 7038 broad.mit.edu 37 8 133885314 133885314 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:133885314G>A ENST00000220616.4 + 5 526 c.486G>A c.(484-486)agG>agA p.R162R TG_ENST00000377869.1_Silent_p.R162R NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 162 Thyroglobulin type-1 3. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity p.R162S(1) NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) TAGGTCCAAGGAGCTGTGAAA 0.453000 8 25 0 0 1 0 0 CACTIN 58509 broad.mit.edu 37 19 3623947 3623947 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:3623947G>A ENST00000429344.2 - 2 433 c.381C>T c.(379-381)ccC>ccT p.P127P CACTIN_ENST00000248420.5_Silent_p.P127P|CACTIN_ENST00000221899.3_Silent_p.P59P NM_001080543.1 NP_001074012.1 cactin, spliceosome C complex subunit CGGCCGCCCGGGGGCTCTGGG 0.726000 6 8 0 0 1 0 0 ABRA 137735 broad.mit.edu 37 8 107782411 107782411 + Missense_Mutation SNP G G A rs149782926 TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:107782411G>A ENST00000311955.3 - 1 62 c.8C>T c.(7-9)cCg>cTg p.P3L NM_139166.4 NP_631905.1 Q8N0Z2 ABRA_HUMAN actin-binding Rho activating protein 3 positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport actin cytoskeleton|plasma membrane|sarcomere actin binding breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2) 27 OV - Ovarian serous cystadenocarcinoma(57;3.83e-09) CTTTTCGCCCGGAGCCATGCT 0.592000 10 38 0 0 1 0 0 SOX11 6664 broad.mit.edu 37 2 5833255 5833255 + Silent SNP C C A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:5833255C>A ENST00000322002.3 + 1 457 c.402C>A c.(400-402)gcC>gcA p.A134A NM_003108.3 NP_003099.1 P35716 SOX11_HUMAN SRY (sex determining region Y)-box 11 134 cardiac ventricle formation|closure of optic fissure|cornea development in camera-type eye|embryonic digestive tract morphogenesis|embryonic skeletal system morphogenesis|eyelid development in camera-type eye|glial cell proliferation|hard palate development|lens morphogenesis in camera-type eye|limb bud formation|lung morphogenesis|negative regulation of cell death|negative regulation of glial cell proliferation|negative regulation of lymphocyte proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|neural crest cell development|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|outflow tract morphogenesis|positive regulation of BMP signaling pathway|positive regulation of hippo signaling cascade|positive regulation of hormone secretion|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of ossification|positive regulation of osteoblast differentiation|positive regulation of stem cell proliferation|regulation of transforming growth factor beta receptor signaling pathway|signal transduction involved in G1/S transition checkpoint|soft palate development|somite development|spinal cord development|sympathetic nervous system development|ventricular septum morphogenesis cytoplasm|nucleolus enhancer sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity|translation factor activity, nucleic acid binding central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1) 13 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191) OV - Ovarian serous cystadenocarcinoma(76;0.132) AGCCCAGCGCCAGCCAGAGCC 0.706000 9 14 9.70103e-10 9.78597e-10 1 1 0 TIMM44 10469 broad.mit.edu 37 19 7998826 7998826 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:7998826C>T ENST00000270538.3 - 6 874 c.606G>A c.(604-606)cgG>cgA p.R202R NM_006351.3 NP_006342.2 O43615 TIM44_HUMAN translocase of inner mitochondrial membrane 44 homolog (yeast) 202 protein targeting to mitochondrion mitochondrial inner membrane presequence translocase complex|mitochondrial matrix ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1) 17 GCTGGGGCCTCCGGTAGGGCC 0.622000 26 15 0 0 1 0 0 ABHD16A 7920 broad.mit.edu 37 6 31657449 31657449 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr6:31657449G>A ENST00000375842.4 - 12 1319 c.333C>T c.(331-333)gcC>gcT p.A111A ABHD16A_ENST00000395952.3_Silent_p.A330A|ABHD16A_ENST00000471644.1_5'UTR|XXbac-BPG32J3.20_ENST00000461287.1_3'UTR|ABHD16A_ENST00000440843.2_Silent_p.A297A O95870 ABHGA_HUMAN abhydrolase domain containing 16A 330 integral to membrane hydrolase activity|protein binding endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1) 10 CCACATCCATGGCATTAGCCT 0.597000 10 12 0 0 1 0 0 HIF1AN 55662 broad.mit.edu 37 10 102304787 102304787 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:102304787C>T ENST00000299163.5 + 4 757 c.657C>T c.(655-657)ttC>ttT p.F219F NM_017902.2 NP_060372.2 Q9NWT6 HIF1N_HUMAN hypoxia inducible factor 1, alpha subunit inhibitor 219 Interaction with HIF1A.|Interaction with VHL.|JmjC. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|protein binding NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1) 10 Colorectal(252;0.234) Epithelial(162;6.75e-10)|all cancers(201;4.88e-08) GCATCTTATTCCCTCCGGATC 0.453000 43 54 0 0 1 0 0 ADCY2 108 broad.mit.edu 37 5 7789866 7789866 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:7789866C>T ENST00000338316.4 + 20 2670 c.2581C>T c.(2581-2583)Ccc>Tcc p.P861S ADCY2_ENST00000537121.1_Missense_Mutation_p.P681S NM_020546.2 NP_065433.2 Q08462 ADCY2_HUMAN adenylate cyclase 2 (brain) 861 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 119 GAACGTGCTTCCCGCGCACGT 0.577000 18 21 0 0 1 0 0 CDHR1 92211 broad.mit.edu 37 10 85961613 85961613 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:85961613C>T ENST00000372117.3 + 7 679 c.576C>T c.(574-576)ctC>ctT p.L192L CDHR1_ENST00000332904.3_Silent_p.L192L NM_033100.2 NP_149091.1 Q96JP9 CDHR1_HUMAN cadherin-related family member 1 192 Cadherin 2. homophilic cell adhesion calcium ion binding|receptor activity breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1) 36 TGCTGCGCCTCCAGGCTGGGG 0.617000 9 27 0 0 1 0 0 COL15A1 1306 broad.mit.edu 37 9 101807031 101807031 + Missense_Mutation SNP G G T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr9:101807031G>T ENST00000375001.3 + 26 3081 c.2658G>T c.(2656-2658)atG>atT p.M886I NM_001855.3 NP_001846.3 P39059 COFA1_HUMAN collagen, type XV, alpha 1 886 Triple-helical region 5 (COL5). angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 107 Acute lymphoblastic leukemia(62;0.0562) AACCTGGAATGCATGGAGCCC 0.463000 38 9 1.15505e-17 1.17689e-17 1 1 0 TWSG1 57045 broad.mit.edu 37 18 9396481 9396481 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr18:9396481C>T ENST00000262120.5 + 4 618 c.427C>T c.(427-429)Cca>Tca p.P143S TWSG1_ENST00000581641.1_Missense_Mutation_p.P143S NM_020648.5 NP_065699.1 Q9GZX9 TWSG1_HUMAN twisted gastrulation BMP signaling modulator 1 143 breast(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|pancreas(2) 10 TGTGAACCAGCCACACCACCA 0.443000 34 53 0 0 1 0 0 RAB11FIP2 22841 broad.mit.edu 37 10 119799986 119799986 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:119799986G>A ENST00000355624.3 - 2 883 c.444C>T c.(442-444)acC>acT p.T148T RP11-354M20.3_ENST00000451610.2_RNA|RP11-354M20.3_ENST00000417968.3_RNA|RAB11FIP2_ENST00000369199.3_Silent_p.T148T NM_014904.2 NP_055719.1 Q7L804 RFIP2_HUMAN RAB11 family interacting protein 2 (class I) 148 protein transport plasma membrane|recycling endosome membrane protein homodimerization activity p.T148T(1) cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8) 19 Colorectal(252;0.235) all cancers(201;0.0238) ACATACTTGCGGTCATATTGT 0.338000 19 33 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9089074 9089074 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:9089074G>A ENST00000397910.4 - 1 2944 c.2741C>T c.(2740-2742)tCc>tTc p.S914F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 914 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 CACTAGGTGGGATGAAGAGAA 0.522000 10 1 0 0 1 0 0 MYH3 4621 broad.mit.edu 37 17 10543053 10543053 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:10543053C>T ENST00000583535.1 - 23 2836 c.2749G>A c.(2749-2751)Gag>Aag p.E917K MYH3_ENST00000226209.7_Missense_Mutation_p.E917K NM_002470.3 NP_002461.2 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, embryonic 917 muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 83 ATCTTGGCCTCGAGCTGGAAT 0.438000 71 92 0 0 1 0 0 DYRK2 8445 broad.mit.edu 37 12 68052290 68052290 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:68052290C>T ENST00000344096.3 + 3 2016 c.1603C>T c.(1603-1605)Ctg>Ttg p.L535L DYRK2_ENST00000393555.3_Silent_p.L462L NM_006482.2 NP_006473.2 Q92630 DYRK2_HUMAN dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2 535 Protein kinase. apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|positive regulation of glycogen biosynthetic process|smoothened signaling pathway cytoplasm|nucleus ATP binding|magnesium ion binding|manganese ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 30 Lung(24;6.81e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|LUSC - Lung squamous cell carcinoma(43;0.196) GBM - Glioblastoma multiforme(7;0.000573) GCACCCCTGGCTGAGGAGGCG 0.542000 113 31 0 0 1 0 0 TAMM41 132001 broad.mit.edu 37 3 11885623 11885623 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:11885623C>T ENST00000444133.2 - 2 340 c.198G>A c.(196-198)ctG>ctA p.L66L TAMM41_ENST00000455809.1_Silent_p.L66L|TAMM41_ENST00000273037.5_Silent_p.L66L Q96BW9 MMP37_HUMAN TAM41, mitochondrial translocator assembly and maintenance protein, homolog (S. cerevisiae) 66 protein import into mitochondrial matrix extrinsic to mitochondrial inner membrane AATTTTTCTTCAGGTTCTTTG 0.388000 32 33 0 0 1 0 0 CHIA 27159 broad.mit.edu 37 1 111854949 111854949 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:111854949G>A ENST00000369740.1 + 4 296 c.193G>A c.(193-195)Gag>Aag p.E65K CHIA_ENST00000343320.6_Missense_Mutation_p.E65K|CHIA_ENST00000353665.6_Intron|CHIA_ENST00000451398.2_Intron|CHIA_ENST00000430615.1_Intron|CHIA_ENST00000483391.1_Intron NM_001258001.1|NM_201653.3 NP_001244930.1|NP_970615.2 Q9BZP6 CHIA_HUMAN chitinase, acidic 65 apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus cytoplasm|extracellular space cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1) 23 all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304) Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154) GCAGAACAACGAGATCACCAC 0.522000 28 45 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168100279 168100279 + Nonsense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:168100279C>T ENST00000409195.1 + 9 2466 c.2377C>T c.(2377-2379)Cga>Tga p.R793* XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Nonsense_Mutation_p.R793*|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Nonsense_Mutation_p.R571*|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 618 actin cytoskeleton organization cell junction actin binding p.R793*(1) NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 TAAAGTTGTCCGAGGAATATC 0.403000 24 48 0 0 1 0 0 ATP11B 23200 broad.mit.edu 37 3 182605425 182605425 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:182605425C>T ENST00000323116.5 + 24 3027 c.2767C>T c.(2767-2769)Cta>Tta p.L923L NM_014616.2 NP_055431.1 Q9Y2G3 AT11B_HUMAN ATPase, class VI, type 11B 923 aminophospholipid transport|ATP biosynthetic process integral to membrane|nuclear inner membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1) 41 all_cancers(143;9.04e-15)|Ovarian(172;0.0355) all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20) TTTTACTTCCCTACCTATTCT 0.343000 31 67 0 0 1 0 0 EVC 2121 broad.mit.edu 37 4 5798856 5798856 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr4:5798856C>T ENST00000382674.2 + 14 2178 c.1994C>T c.(1993-1995)tCg>tTg p.S665L EVC_ENST00000515113.1_3'UTR|EVC_ENST00000264956.6_Missense_Mutation_p.S665L P57679 EVC_HUMAN Ellis van Creveld syndrome 665 muscle organ development integral to membrane NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1) 28 Myeloproliferative disorder(84;0.117) ATGCGGCTATCGGGGAAGAAG 0.682000 18 23 0 0 1 0 0 UNC80 285175 broad.mit.edu 37 2 210640614 210640614 + Splice_Site SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:210640614C>T ENST00000439458.1 + 3 223 c.141_splice c.e3-1 p.S48_splice UNC80_ENST00000478701.1_3'UTR|UNC80_ENST00000272845.5_Splice_Site_p.S48_splice NM_032504.1 NP_115893.1 Q8N2C7 UNC80_HUMAN unc-80 homolog (C. elegans) 48 integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1) 20 tatttACAGTCCTTTGAGCGA 0.408000 37 21 0 0 1 0 0 AHDC1 27245 broad.mit.edu 37 1 27878366 27878366 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:27878366C>T ENST00000374011.2 - 6 1229 c.261G>A c.(259-261)cgG>cgA p.R87R AHDC1_ENST00000247087.5_Silent_p.R87R|AHDC1_ENST00000482400.2_Intron NM_001029882.2 NP_001025053.1 Q5TGY3 AHDC1_HUMAN AT hook, DNA binding motif, containing 1 87 Pro-rich. DNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 42 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291) GACGGGCTGCCCGTGGGGGCA 0.741000 21 50 0 0 1 0 0 HELZ 9931 broad.mit.edu 37 17 65119214 65119214 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:65119214G>A ENST00000358691.5 - 26 3668 c.3502C>T c.(3502-3504)Ctt>Ttt p.L1168F HELZ_ENST00000580168.1_Missense_Mutation_p.L1169F NM_014877.3 NP_055692.2 helicase with zinc finger NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) TGAGGTCCAAGAGGGGGTGGA 0.433000 27 37 0 0 1 0 0 SNX17 9784 broad.mit.edu 37 2 27596751 27596751 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:27596751G>A ENST00000233575.2 + 5 567 c.345G>A c.(343-345)gaG>gaA p.E115E SNX17_ENST00000537606.1_Silent_p.E90E|SNX17_ENST00000542478.1_5'UTR|SNX17_ENST00000543024.1_5'UTR NM_001267059.1|NM_001267061.1|NM_014748.3 NP_001253988.1|NP_001253990.1|NP_055563.1 Q15036 SNX17_HUMAN sorting nexin 17 115 Ras-associating. cell communication|endosome transport|intracellular protein transport|regulation of endocytosis|signal transduction cytoplasmic vesicle membrane|cytosol|early endosome|Golgi apparatus low-density lipoprotein particle receptor binding|phosphatidylinositol binding|protein C-terminus binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1) 14 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCCCCACAGAGGAAGTGTCCT 0.537000 6 19 0 0 1 0 0 MEGF6 1953 broad.mit.edu 37 1 3432004 3432004 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:3432004G>A ENST00000356575.4 - 6 918 c.692C>T c.(691-693)cCc>cTc p.P231L MEGF6_ENST00000294599.4_Missense_Mutation_p.P126L NM_001409.3 NP_001400.3 O75095 MEGF6_HUMAN multiple EGF-like-domains 6 231 EGF-like 3. extracellular region calcium ion binding cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105) all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211) Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213) CTGGAACCCGGGCCGGCACTG 0.667000 14 12 0 0 1 0 0 SMG1 23049 broad.mit.edu 37 16 18848597 18848597 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr16:18848597G>A ENST00000446231.2 - 46 7994 c.7582C>T c.(7582-7584)Cct>Tct p.P2528S SMG1_ENST00000389467.3_Missense_Mutation_p.P2528S Q96Q15 SMG1_HUMAN SMG1 phosphatidylinositol 3-kinase-related kinase 2528 DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1) 92 GTATGAGAAGGATGATCCACC 0.373000 42 106 0 0 1 0 0 BCMO1 53630 broad.mit.edu 37 16 81320958 81320958 + Nonsense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr16:81320958G>A ENST00000258168.2 + 10 1822 c.1361G>A c.(1360-1362)tGg>tAg p.W454* BCMO1_ENST00000425577.2_Nonsense_Mutation_p.W385* NM_017429.2 NP_059125.2 Q9HAY6 BCDO1_HUMAN beta-carotene 15,15'-monooxygenase 1 454 retinoid metabolic process|steroid metabolic process cytosol beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1) 23 GACGACTGCTGGCCAGCGGAA 0.468000 29 56 0 0 1 0 0 ZDHHC3 51304 broad.mit.edu 37 3 44986676 44986676 + Nonsense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:44986676G>A ENST00000296127.3 - 3 688 c.415C>T c.(415-417)Cga>Tga p.R139* ZDHHC3_ENST00000424952.2_Nonsense_Mutation_p.R139*|ZDHHC3_ENST00000342790.4_Nonsense_Mutation_p.R173* NM_016598.2 NP_057682.1 Q9NYG2 ZDHC3_HUMAN zinc finger, DHHC-type containing 3 139 Golgi membrane|integral to membrane zinc ion binding endometrium(1)|large_intestine(3)|lung(4) 8 BRCA - Breast invasive adenocarcinoma(193;0.00943)|KIRC - Kidney renal clear cell carcinoma(197;0.053)|Kidney(197;0.0665) TGGTGGGCTCGGTCGGGCTTG 0.582000 44 64 0 0 1 0 0 ALX4 60529 broad.mit.edu 37 11 44297187 44297187 + Missense_Mutation SNP T T G TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:44297187T>G ENST00000329255.3 - 2 591 c.488A>C c.(487-489)gAg>gCg p.E163A NM_021926.3 NP_068745.2 Q9H161 ALX4_HUMAN ALX homeobox 4 163 hair follicle development central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 16 TAACTCTGGCTCACCCAGGGA 0.582000 17 33 0 0 1 0 0 ITIH6 347365 broad.mit.edu 37 X 54784245 54784245 + Silent SNP C C T rs149204090 byFrequency TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:54784245C>T ENST00000218436.6 - 8 2291 c.2262G>A c.(2260-2262)acG>acA p.T754T NM_198510.2 NP_940912.1 Q6UXX5 ITH5L_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 6 754 Pro-rich. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity TCCTGGAGTTCGTGGGTAATA 0.502000 75 85 0 0 1 0 0 ATRX 546 broad.mit.edu 37 X 76889053 76889053 + Splice_Site SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:76889053C>T ENST00000373344.5 - 18 5171 c.e18+1 ATRX_ENST00000395603.3_Splice_Site|ATRX_ENST00000480283.1_Splice_Site NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) AAATAAGTTACCTCAAGCTTC 0.279000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 34 57 0 0 1 0 0 PYGM 5837 broad.mit.edu 37 11 64521441 64521441 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:64521441C>T ENST00000164139.3 - 10 1547 c.1149G>A c.(1147-1149)gaG>gaA p.E383E PYGM_ENST00000377432.3_Silent_p.E295E NM_005609.2 NP_005600.1 P11217 PYGM_HUMAN phosphorylase, glycogen, muscle 383 glucose metabolic process|glycogen catabolic process cytosol glycogen phosphorylase activity|protein binding cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 Pyridoxal Phosphate(DB00114) GCTCCAGGGCCTCGGGCAGCA 0.647000 3 10 0 0 1 0 0 SH3TC1 54436 broad.mit.edu 37 4 8229705 8229705 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr4:8229705C>T ENST00000539824.1 + 12 2430 c.2056C>T c.(2056-2058)Cct>Tct p.P686S SH3TC1_ENST00000245105.3_Missense_Mutation_p.P762S Q8TE82 S3TC1_HUMAN SH3 domain and tetratricopeptide repeats 1 762 binding NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 CCACAGCCTCCCTGCCCAAAC 0.692000 14 45 0 0 1 0 0 DUSP7 1849 broad.mit.edu 37 3 52089869 52089869 + Nonsense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:52089869G>A ENST00000495880.1 - 1 697 c.514C>T c.(514-516)Caa>Taa p.Q172* DUSP7_ENST00000296483.6_Nonsense_Mutation_p.Q121* Q16829 DUS7_HUMAN dual specificity phosphatase 7 172 Rhodanese. inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm MAP kinase tyrosine/serine/threonine phosphatase activity|protein binding|protein tyrosine phosphatase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1) 17 BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) CCCTCACCTTGGAGGTAGTAG 0.736000 8 12 0 0 1 0 0 ELN 2006 broad.mit.edu 37 7 73474493 73474493 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:73474493G>A ENST00000252034.7 + 24 1999 c.1600G>A c.(1600-1602)Gtg>Atg p.V534M ELN_ENST00000358929.4_Missense_Mutation_p.V569M|ELN_ENST00000380576.5_Missense_Mutation_p.V515M|ELN_ENST00000357036.5_Missense_Mutation_p.V539M|ELN_ENST00000320492.7_Missense_Mutation_p.V453M|ELN_ENST00000458204.1_Missense_Mutation_p.V524M|ELN_ENST00000445912.1_Missense_Mutation_p.V534M|ELN_ENST00000380553.4_Missense_Mutation_p.V398M|ELN_ENST00000320399.6_Missense_Mutation_p.V534M|ELN_ENST00000414324.1_Missense_Mutation_p.V510M|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000380584.4_Intron|ELN_ENST00000429192.1_Missense_Mutation_p.V520M|ELN_ENST00000380562.4_Missense_Mutation_p.V540M|ELN_ENST00000380575.4_Missense_Mutation_p.V505M NM_000501.2 NP_000492.2 P15502 ELN_HUMAN elastin 563 Ala-rich. blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange proteinaceous extracellular matrix extracellular matrix constituent conferring elasticity|protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1) 32 Lung NSC(55;0.159) Rofecoxib(DB00533) CGCTGCCAAGGTGGCTGCCAA 0.642000 T PAX5 B-ALL """Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome""" 64 77 0 0 1 0 0 BCORL1 63035 broad.mit.edu 37 X 129171506 129171506 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:129171506G>A ENST00000540052.1 + 8 4514 c.4470G>A c.(4468-4470)acG>acA p.T1490T BCORL1_ENST00000303743.5_Silent_p.T1564T|BCORL1_ENST00000218147.7_Silent_p.T1490T|BCORL1_ENST00000359304.2_Silent_p.T1360T NM_021946.4 NP_068765.3 Q5H9F3 BCORL_HUMAN BCL6 corepressor-like 1 1490 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 75 AGGACGGCACGAGGCAAGAGG 0.647000 33 63 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92085509 92085509 + Nonsense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:92085509G>A ENST00000298047.6 + 1 248 c.231G>A c.(229-231)tgG>tgA p.W77* FAT3_ENST00000541502.1_Nonsense_Mutation_p.W77*|FAT3_ENST00000409404.2_Nonsense_Mutation_p.W77* Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 77 Cadherin 1. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) ATCTATCCTGGGATATCAAAT 0.413000 TCGA Ovarian(4;0.039) 15 32 0 0 1 0 0 QSER1 79832 broad.mit.edu 37 11 32956826 32956826 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:32956826C>T ENST00000399302.2 + 4 3970 c.3635C>T c.(3634-3636)cCa>cTa p.P1212L QSER1_ENST00000527788.1_Missense_Mutation_p.P973L NM_001076786.1 NP_001070254.1 Q2KHR3 QSER1_HUMAN glutamine and serine rich 1 1212 breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 48 Breast(20;0.158) GGTAACAGTCCATCAGATAAA 0.408000 66 93 0 0 1 0 0 SCAND3 114821 broad.mit.edu 37 6 28541289 28541289 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr6:28541289C>T ENST00000452236.2 - 4 2994 c.2377G>A c.(2377-2379)Gaa>Aaa p.E793K NM_052923.1 NP_443155.1 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 793 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 tcaaagaattcttttggttgt 0.323000 25 16 0 0 1 0 0 FLYWCH1 84256 broad.mit.edu 37 16 2979734 2979734 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr16:2979734C>T ENST00000399667.2 + 3 411 c.48C>T c.(46-48)gcC>gcT p.A16A FLYWCH1_ENST00000416288.2_Silent_p.A16A|FLYWCH1_ENST00000253928.9_Silent_p.A16A Q4VC44 FWCH1_HUMAN FLYWCH-type zinc finger 1 16 nucleus DNA binding|metal ion binding kidney(1)|lung(3) 4 GTGTGAAGGCCGGCCAGGAGC 0.697000 17 21 0 0 1 0 0 TLR7 51284 broad.mit.edu 37 X 12906090 12906090 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:12906090G>A ENST00000380659.3 + 3 2602 c.2463G>A c.(2461-2463)aaG>aaA p.K821K NM_016562.3 NP_057646.1 Q9NYK1 TLR7_HUMAN toll-like receptor 7 821 cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 44 Imiquimod(DB00724) GAGCACACAAGGGCCAAAGTG 0.488000 58 107 0 0 1 0 0 GRAMD1A 57655 broad.mit.edu 37 19 35512502 35512502 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:35512502C>T ENST00000599564.1 + 15 1904 c.1833C>T c.(1831-1833)caC>caT p.H611H CTD-2527I21.14_ENST00000605640.1_RNA|GRAMD1A_ENST00000317991.5_Silent_p.H524H|GRAMD1A_ENST00000411896.2_Silent_p.H517H|GRAMD1A_ENST00000504615.2_Silent_p.H290H Q96CP6 GRM1A_HUMAN GRAM domain containing 1A 524 integral to membrane NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 19 all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) ACTATTTCCACCATCTGGGTA 0.587000 23 53 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126411592 126411592 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr4:126411592G>A ENST00000394329.3 + 17 13628 c.13615G>A c.(13615-13617)Gag>Aag p.E4539K FAT4_ENST00000335110.5_Missense_Mutation_p.E2780K NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 4539 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 AAATCCCAAAGAGGAGAAGAA 0.527000 12 34 0 0 1 0 0 EVPL 2125 broad.mit.edu 37 17 74003456 74003456 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:74003456G>A ENST00000301607.3 - 22 6083 c.5830C>T c.(5830-5832)Ctc>Ttc p.L1944F EVPL_ENST00000586740.1_Missense_Mutation_p.L1966F NM_001988.2 NP_001979.2 Q92817 EVPL_HUMAN envoplakin 1944 Globular 2. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 GGGTCGATGAGCCCCCCGGTC 0.672000 28 35 0 0 1 0 0 ARHGAP21 57584 broad.mit.edu 37 10 24874385 24874385 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:24874385C>T ENST00000396432.2 - 26 5319 c.4833G>A c.(4831-4833)gtG>gtA p.V1611V NM_020824.3 NP_065875.3 Q5T5U3 RHG21_HUMAN Rho GTPase activating protein 21 1610 Interaction with CTNNA1. signal transduction cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane GTPase activator activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1) 78 TGCTCTCTGCCACGGATTGCA 0.567000 39 49 0 0 1 0 0 PEX10 5192 broad.mit.edu 37 1 2337938 2337938 + Silent SNP C C A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:2337938C>A ENST00000288774.3 - 5 984 c.957G>T c.(955-957)gcG>gcT p.A319A PEX10_ENST00000447513.2_Silent_p.A299A|PEX10_ENST00000507596.1_Silent_p.A299A NM_153818.1 NP_722540.1 O60683 PEX10_HUMAN peroxisomal biogenesis factor 10 299 protein import into peroxisome matrix integral to peroxisomal membrane|peroxisomal membrane protein binding|protein C-terminus binding|zinc ion binding central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2) 7 all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634) all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128) Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00102)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0169)|Lung(427;0.199) TGCTGCACCACGCGGTGATGC 0.667000 16 35 3.51602e-12 3.56078e-12 1 1 0 RSF1 51773 broad.mit.edu 37 11 77412960 77412960 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:77412960C>T ENST00000308488.6 - 6 1616 c.1314G>A c.(1312-1314)ggG>ggA p.G438G RSF1_ENST00000480887.1_Silent_p.G186G|RSF1_ENST00000360355.2_Silent_p.G407G Q96T23 RSF1_HUMAN remodeling and spacing factor 1 438 CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent RSF complex histone binding|protein binding|zinc ion binding breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152) Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31) CCAGCTGTTTCCCTTCATGAC 0.363000 23 48 0 0 1 0 0 SND1 27044 broad.mit.edu 37 7 127569372 127569372 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:127569372C>T ENST00000354725.3 + 15 1853 c.1659C>T c.(1657-1659)ttC>ttT p.F553F NM_014390.2 NP_055205.2 Q7KZF4 SND1_HUMAN staphylococcal nuclease and tudor domain containing 1 553 TNase-like 4. gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent melanosome|nucleus|RNA-induced silencing complex nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 41 TTATCACCTTCTTGCTTGCAG 0.473000 67 144 0 0 1 0 0 RP1L1 94137 broad.mit.edu 37 8 10469725 10469725 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:10469725G>A ENST00000382483.3 - 4 2106 c.1883C>T c.(1882-1884)cCt>cTt p.P628L NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 628 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) GCAGGTGGAAGGGGTGGAAGA 0.667000 32 39 0 0 1 0 0 MYBL2 4605 broad.mit.edu 37 20 42310477 42310477 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr20:42310477C>T ENST00000217026.4 + 3 295 c.168C>T c.(166-168)ttC>ttT p.F56F MYBL2_ENST00000396863.4_Intron NM_002466.2 NP_002457.1 P10244 MYBB_HUMAN v-myb avian myeloblastosis viral oncogene homolog-like 2 56 HTH myb-type 1. nucleus DNA binding|sequence-specific DNA binding transcription factor activity endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 46 Myeloproliferative disorder(115;0.00452) COAD - Colon adenocarcinoma(18;0.0031) ACTGGAAGTTCCTGGCCAGCC 0.602000 20 41 0 0 1 0 0 CACNA2D4 93589 broad.mit.edu 37 12 2027517 2027517 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:2027517G>A ENST00000382722.5 - 1 485 c.123C>T c.(121-123)ccC>ccT p.P41P CACNA2D4_ENST00000585732.1_Silent_p.P41P|CACNA2D4_ENST00000587995.1_Silent_p.P41P|CACNA2D4_ENST00000586184.1_Silent_p.P41P|RP5-1096D14.3_ENST00000544163.1_RNA NM_172364.4 NP_758952.4 Q7Z3S7 CA2D4_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 4 41 integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 39 Ovarian(42;0.107) Myeloproliferative disorder(1001;0.206) OV - Ovarian serous cystadenocarcinoma(31;0.00113) Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451) CCCAGGCCACGGGCATTGGCT 0.652000 14 4 0 0 1 0 0 GPI 2821 broad.mit.edu 37 19 34887238 34887238 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:34887238C>T ENST00000415930.3 + 13 1298 c.1128C>T c.(1126-1128)acC>acT p.T376T GPI_ENST00000586425.1_Silent_p.T365T|GPI_ENST00000356487.5_Silent_p.T365T NM_001184722.1 NP_001171651.1 P06744 G6PI_HUMAN glucose-6-phosphate isomerase 365 angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response cytosol|extracellular space|nucleus|plasma membrane cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 25 Esophageal squamous(110;0.162) AATACATCACCAAATCTGGAA 0.493000 30 56 0 0 1 0 0 SMG1 23049 broad.mit.edu 37 16 18848596 18848596 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr16:18848596G>A ENST00000446231.2 - 46 7995 c.7583C>T c.(7582-7584)cCt>cTt p.P2528L SMG1_ENST00000389467.3_Missense_Mutation_p.P2528L Q96Q15 SMG1_HUMAN SMG1 phosphatidylinositol 3-kinase-related kinase 2528 DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1) 92 AGTATGAGAAGGATGATCCAC 0.373000 41 105 0 0 1 0 0 NEDD4L 23327 broad.mit.edu 37 18 56001072 56001072 + Missense_Mutation SNP T T G TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr18:56001072T>G ENST00000456986.1 + 12 1250 c.650T>G c.(649-651)tTg>tGg p.L217W NEDD4L_ENST00000456173.2_Missense_Mutation_p.L217W|NEDD4L_ENST00000431212.2_Missense_Mutation_p.L217W|NEDD4L_ENST00000382850.4_Missense_Mutation_p.L338W|NEDD4L_ENST00000256832.7_Missense_Mutation_p.L217W|NEDD4L_ENST00000357895.5_Missense_Mutation_p.L330W|NEDD4L_ENST00000400345.3_Missense_Mutation_p.L338W|NEDD4L_ENST00000256830.9_Missense_Mutation_p.L338W|NEDD4L_ENST00000586263.1_Missense_Mutation_p.L330W|NEDD4L_ENST00000356462.6_Missense_Mutation_p.L338W|NEDD4L_ENST00000435432.2_Missense_Mutation_p.L217W|NEDD4L_ENST00000589054.1_Intron NM_001144964.1 NP_001138436.1 Q96PU5 NED4L_HUMAN neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase 338 WW 1. cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis cytoplasm protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4) 37 TCCTCAAGGTTGAGGTCATGC 0.433000 8 29 0 0 1 0 0 TLE3 7090 broad.mit.edu 37 15 70358436 70358436 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr15:70358436C>T ENST00000558939.1 - 7 1871 c.494G>A c.(493-495)gGg>gAg p.G165E TLE3_ENST00000559048.1_Missense_Mutation_p.G170E|TLE3_ENST00000440567.3_Missense_Mutation_p.G158E|TLE3_ENST00000557907.1_Missense_Mutation_p.G165E|TLE3_ENST00000560939.1_Missense_Mutation_p.G170E|TLE3_ENST00000559929.1_Missense_Mutation_p.G175E|TLE3_ENST00000559191.1_Intron|TLE3_ENST00000317509.8_Missense_Mutation_p.G165E|TLE3_ENST00000539550.1_Missense_Mutation_p.G109E|TLE3_ENST00000451782.2_Missense_Mutation_p.G165E|TLE3_ENST00000560589.1_Missense_Mutation_p.G109E|TLE3_ENST00000442299.2_Missense_Mutation_p.G165E|TLE3_ENST00000558201.1_Missense_Mutation_p.G171E|TLE3_ENST00000557997.1_Missense_Mutation_p.G165E|TLE3_ENST00000558379.1_Missense_Mutation_p.G165E Q04726 TLE3_HUMAN transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila) 165 Gly/Pro-rich. organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 TGCCAGCAGCCCGGAGCTGCT 0.672000 11 26 0 0 1 0 0 ADAM9 8754 broad.mit.edu 37 8 38871527 38871527 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:38871527G>A ENST00000487273.2 + 4 376 c.298G>A c.(298-300)Gaa>Aaa p.E100K ADAM9_ENST00000481513.1_Missense_Mutation_p.E100K|ADAM9_ENST00000466936.1_Missense_Mutation_p.E100K NM_003816.2 NP_003807.1 Q13443 ADAM9_HUMAN ADAM metallopeptidase domain 9 100 Missing (in Ref. 2; no nucleotide entry). 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) TTACAACAAGGAAGGGACTTT 0.303000 42 55 0 0 1 0 0 TMEM97 27346 broad.mit.edu 37 17 26653748 26653748 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:26653748C>T ENST00000226230.6 + 3 605 c.460C>T c.(460-462)Cca>Tca p.P154S TMEM97_ENST00000583381.1_Missense_Mutation_p.P47S|TMEM97_ENST00000336687.6_Missense_Mutation_p.P47S NM_014573.2 NP_055388.2 Q5BJF2 TMM97_HUMAN transmembrane protein 97 154 cholesterol homeostasis|regulation of cell growth integral to membrane|lysosome|nuclear membrane|plasma membrane|rough endoplasmic reticulum protein binding endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 6 all_lung(13;0.000238)|Lung NSC(42;0.000789) UCEC - Uterine corpus endometrioid carcinoma (53;0.153) CTTACTCATCCCATTCATACT 0.428000 18 25 0 0 1 0 0 ESYT3 83850 broad.mit.edu 37 3 138178864 138178864 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:138178864C>T ENST00000389567.4 + 6 912 c.726C>T c.(724-726)ttC>ttT p.F242F ESYT3_ENST00000289135.4_Silent_p.F242F NM_031913.3 NP_114119.2 A0FGR9 ESYT3_HUMAN extended synaptotagmin-like protein 3 242 integral to membrane|plasma membrane breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 25 CTGTGTTCTTCCTTCAGAAGC 0.607000 15 29 0 0 1 0 0 EMID1 129080 broad.mit.edu 37 22 29621205 29621205 + Splice_Site SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr22:29621205G>A ENST00000334018.6 + 4 591 c.403_splice c.e4+1 p.G135_splice EMID1_ENST00000484039.1_3'UTR|EMID1_ENST00000404755.3_Splice_Site_p.G135_splice|EMID1_ENST00000404820.3_Splice_Site_p.G135_splice NM_001267895.1|NM_133455.3 NP_001254824.1|NP_597712.2 Q96A84 EMID1_HUMAN EMI domain containing 1 133 collagen NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3) 12 AGCCTTCTCAGGTGGGTCCTG 0.622000 23 39 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179633554 179633554 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:179633554C>T ENST00000589042.1 - 38 9233 c.9009G>A c.(9007-9009)aaG>aaA p.K3003K TTN_ENST00000342992.6_Silent_p.K3003K|TTN_ENST00000591111.1_Silent_p.K3003K|TTN_ENST00000359218.5_Silent_p.K2957K|TTN_ENST00000360870.5_Silent_p.K3003K|TTN_ENST00000342175.6_Silent_p.K2957K|TTN_ENST00000460472.2_Silent_p.K2957K|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 2742 Ig-like 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) CCACACCATTCTTTAACCATT 0.403000 19 40 0 0 1 0 0 FBXW8 26259 broad.mit.edu 37 12 117465256 117465256 + Silent SNP T T C TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:117465256T>C ENST00000455858.2 + 10 1474 c.1401T>C c.(1399-1401)ccT>ccC p.P467P FBXW8_ENST00000309909.5_Silent_p.P533P NM_012174.1|NM_153348.2 NP_036306.1|NP_699179.2 Q8N3Y1 FBXW8_HUMAN F-box and WD repeat domain containing 8 533 protein binding endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1) 22 all_neural(191;0.117)|Medulloblastoma(191;0.163) BRCA - Breast invasive adenocarcinoma(302;0.0353) CCAACGTGCCTTACCAGACGG 0.587000 20 46 0 0 1 0 0 PPP1R3F 89801 broad.mit.edu 37 X 49127085 49127085 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:49127085G>A ENST00000055335.6 + 1 769 c.753G>A c.(751-753)gaG>gaA p.E251E PPP1R3F_ENST00000495799.1_Intron|PPP1R3F_ENST00000466508.1_5'UTR|PPP1R3F_ENST00000438316.1_5'UTR NM_033215.4 NP_149992.3 Q6ZSY5 PPR3F_HUMAN protein phosphatase 1, regulatory subunit 3F 251 CBM21. integral to membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4) 27 Ovarian(276;0.236) CCTTTGCTGAGGGCGCGGGCG 0.701000 12 20 0 0 1 0 0 PTPRM 5797 broad.mit.edu 37 18 7888244 7888244 + Silent SNP T T C TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr18:7888244T>C ENST00000332175.8 + 3 1374 c.337T>C c.(337-339)Tta>Cta p.L113L PTPRM_ENST00000400053.4_Silent_p.L51L|PTPRM_ENST00000400060.4_Silent_p.L113L|PTPRM_ENST00000580170.1_Silent_p.L113L NM_002845.3 NP_002836.3 P28827 PTPRM_HUMAN protein tyrosine phosphatase, receptor type, M 113 MAM. homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm cadherin binding|transmembrane receptor protein tyrosine phosphatase activity breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 90 Colorectal(10;0.234) TCCTCCGGGGTTACTCAATGT 0.483000 30 56 0 0 1 0 0 RET 5979 broad.mit.edu 37 10 43612121 43612121 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:43612121G>A ENST00000355710.3 + 12 2458 c.2226G>A c.(2224-2226)acG>acA p.T742T RET_ENST00000340058.5_Silent_p.T742T NM_020975.4 NP_066124.1 P07949 RET_HUMAN ret proto-oncogene 742 Protein kinase. homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development integral to membrane ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity CCDC6/RET(4)|KIF5B/RET(79) NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1) 607 Ovarian(717;0.0423) Sunitinib(DB01268) TCAAGGCAACGGCCTTCCATC 0.537000 1 """T, Mis, N, F""" """H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6""" """medullary thyroid, papillary thyroid, pheochromocytoma, NSCLC""" """medullary thyroid, papillary thyroid, pheochromocytoma""" Hirschsprung disease Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma 76 118 0 0 1 0 0 BRWD3 254065 broad.mit.edu 37 X 79955510 79955510 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:79955510C>T ENST00000373275.4 - 25 3105 c.2889G>A c.(2887-2889)tcG>tcA p.S963S BRWD3_ENST00000473691.1_5'UTR NM_153252.4 NP_694984.4 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 963 breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3) 87 TGTATATTTTCGATTTCCTTA 0.348000 12 27 0 0 1 0 0 FAM78B 149297 broad.mit.edu 37 1 166039875 166039875 + Missense_Mutation SNP T T C TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:166039875T>C ENST00000338353.3 - 3 978 c.389A>G c.(388-390)aAg>aGg p.K130R FAM78B_ENST00000354422.3_Missense_Mutation_p.K130R Q5VT40 FA78B_HUMAN family with sequence similarity 78, member B 130 central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 19 all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155) CCTGGAGATCTTGTTGGTGGG 0.532000 19 55 0 0 1 0 0 MAP3K8 1326 broad.mit.edu 37 10 30748415 30748415 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:30748415C>T ENST00000263056.1 + 8 1954 c.1258C>T c.(1258-1260)Cct>Tct p.P420S MAP3K8_ENST00000542547.1_Missense_Mutation_p.P420S|MAP3K8_ENST00000375321.1_Missense_Mutation_p.P420S NM_001244134.1|NM_005204.3 NP_001231063.1|NP_005195.2 P41279 M3K8_HUMAN mitogen-activated protein kinase kinase kinase 8 420 Missing (in oncogenic form). cell cycle|T cell costimulation cytosol ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 Prostate(175;0.151) GCTGGAACTTCCTGAGAACAT 0.552000 19 37 0 0 1 0 0 MPZ 4359 broad.mit.edu 37 1 161275697 161275697 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:161275697C>T ENST00000533357.1 - 6 782 c.716G>A c.(715-717)gGg>gAg p.G239E MPZ_ENST00000491222.2_Missense_Mutation_p.G43E|MPZ_ENST00000360451.6_Missense_Mutation_p.G249E|MPZ_ENST00000526189.1_5'UTR|MPZ_ENST00000336559.4_Missense_Mutation_p.G239S NM_000530.6 NP_000521.2 P25189 MYP0_HUMAN myelin protein zero 239 synaptic transmission integral to plasma membrane structural molecule activity central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 10 all_cancers(52;6.96e-17)|all_hematologic(112;0.093) Breast(1374;0.181) BRCA - Breast invasive adenocarcinoma(70;0.00376) CTCCCCCAGCCCCTTGGCCTT 0.617000 25 43 0 0 1 0 0 RASGRF2 5924 broad.mit.edu 37 5 80376019 80376019 + Splice_Site SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:80376019G>A ENST00000265080.4 + 6 1034 c.967_splice c.e6+1 p.A323_splice RASGRF2_ENST00000502677.1_3'UTR NM_006909.2 NP_008840.1 O14827 RGRF2_HUMAN Ras protein-specific guanine nucleotide-releasing factor 2 323 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|endoplasmic reticulum membrane|plasma membrane protein binding|Rho guanyl-nucleotide exchange factor activity biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 75 Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357) OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29) TTTAATTTTAGGTAAGTGCAT 0.328000 30 41 0 0 1 0 0 C1orf173 127254 broad.mit.edu 37 1 75038132 75038132 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:75038132C>T ENST00000326665.5 - 14 3480 c.3262G>A c.(3262-3264)Gat>Aat p.D1088N C1orf173_ENST00000433746.2_5'UTR NM_001002912.4 NP_001002912.4 Q5RHP9 CA173_HUMAN chromosome 1 open reading frame 173 1088 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 GCATCTTCATCCTTGAGTGCA 0.438000 50 64 0 0 1 0 0 RTN4R 65078 broad.mit.edu 37 22 20229530 20229530 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr22:20229530G>A ENST00000043402.7 - 2 1564 c.1126C>T c.(1126-1128)Cca>Tca p.P376S NM_023004.5 NP_075380.1 Q9BZR6 RTN4R_HUMAN reticulon 4 receptor 376 axonogenesis|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway anchored to membrane|cell surface|endoplasmic reticulum|plasma membrane protein binding|receptor activity lung(1)|ovary(1)|prostate(1) 3 Colorectal(54;0.0993) ATGTGCCGTGGGCCAGAGCCG 0.682000 21 41 0 0 1 0 0 OR10J3 441911 broad.mit.edu 37 1 159284021 159284021 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:159284021G>A ENST00000332217.5 - 1 428 c.429C>T c.(427-429)atC>atT p.I143I NM_001004467.1 NP_001004467.1 Q5JRS4 O10J3_HUMAN olfactory receptor, family 10, subfamily J, member 3 143 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 47 all_hematologic(112;0.0429) AGGCCAGTTGGATACAGGCCC 0.517000 19 33 0 0 1 0 0 PLAT 5327 broad.mit.edu 37 8 42046585 42046585 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:42046585G>A ENST00000220809.4 - 4 376 c.120C>T c.(118-120)atC>atT p.I40I PLAT_ENST00000270189.6_Silent_p.I40I|PLAT_ENST00000519510.1_Silent_p.I40I|PLAT_ENST00000524009.1_Silent_p.I40I|PLAT_ENST00000429710.2_Silent_p.I40I|PLAT_ENST00000429089.2_Silent_p.I40I|PLAT_ENST00000352041.3_Intron NM_000930.3 NP_000921.1 P00750 TPA_HUMAN plasminogen activator, tissue 40 Fibronectin type-I. blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis cell surface|cytoplasm|extracellular space protein binding|serine-type endopeptidase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1) 27 all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211) all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024) Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013) CATCTCTGCAGATCACTATGA 0.473000 57 63 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141803120 141803120 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:141803120C>T ENST00000475668.2 + 70 8119 c.8065C>T c.(8065-8067)Cct>Tct p.P2689S MGAM_ENST00000549489.2_Missense_Mutation_p.P1793S O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 1793 polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) TGGTACAAATCCTTTGAAACT 0.393000 6 17 0 0 1 0 0 PTGIS 5740 broad.mit.edu 37 20 48166642 48166642 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr20:48166642G>A ENST00000244043.4 - 2 188 c.159C>T c.(157-159)ttC>ttT p.F53F PTGIS_ENST00000478971.1_5'UTR NM_000961.3 NP_000952.1 Q16647 PTGIS_HUMAN prostaglandin I2 (prostacyclin) synthase 53 hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 27 BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) Phenylbutazone(DB00812) TCCTCGTGAGGAAGCTGGCAG 0.572000 44 51 0 0 1 0 0 OR8B2 26595 broad.mit.edu 37 11 124252318 124252318 + Nonsense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:124252318G>A ENST00000375013.2 - 1 940 c.922C>T c.(922-924)Cag>Tag p.Q308* NM_001005468.1 NP_001005468.1 Q96RD0 OR8B2_HUMAN olfactory receptor, family 8, subfamily B, member 2 308 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1) 23 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;0.0277) TTTCTCCTCTGAATTTTAATC 0.338000 19 44 0 0 1 0 0 TSSK3 81629 broad.mit.edu 37 1 32829353 32829353 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:32829353G>A ENST00000373534.3 + 2 808 c.303G>A c.(301-303)ctG>ctA p.L101L FAM229A_ENST00000415596.1_Intron NM_052841.3 NP_443073.1 Q96PN8 TSSK3_HUMAN testis-specific serine kinase 3 101 Protein kinase. cell differentiation|multicellular organismal development|spermatogenesis ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|large_intestine(6)|lung(5)|skin(2)|stomach(1) 15 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.17)|Breast(348;0.212) ACTGCGTGCTGAATGGGGGGC 0.607000 45 55 0 0 1 0 0 ZNF33B 7582 broad.mit.edu 37 10 43078459 43078459 + RNA SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:43078459G>A ENST00000486187.1 - 0 523 Q06732 ZN33B_HUMAN zinc finger protein 33B nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1) 29 TGGAAGAAGGGAAGGCCATTG 0.512000 4 11 0 0 1 0 0 LZTS2 84445 broad.mit.edu 37 10 102763321 102763321 + Nonsense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:102763321C>T ENST00000370220.1 + 2 3529 c.466C>T c.(466-468)Cga>Tga p.R156* LZTS2_ENST00000370223.3_Nonsense_Mutation_p.R156* Q9BRK4 LZTS2_HUMAN leucine zipper, putative tumor suppressor 2 156 Required for centrosomal localization (By similarity). cell division|mitosis|Wnt receptor signaling pathway membrane|microtubule|microtubule organizing center breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 22 Epithelial(162;7.3e-09)|all cancers(201;3.72e-07) GCCCAAACCTCGAGGGGCTCC 0.622000 48 73 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92531550 92531550 + Silent SNP T T C TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:92531550T>C ENST00000298047.6 + 9 5388 c.5371T>C c.(5371-5373)Ttg>Ctg p.L1791L FAT3_ENST00000525166.1_Silent_p.L1641L|FAT3_ENST00000409404.2_Silent_p.L1791L Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 1791 Cadherin 16. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TGTCAGGAGCTTGGATAACAG 0.438000 TCGA Ovarian(4;0.039) 11 11 0 0 1 0 0 TYRO3 7301 broad.mit.edu 37 15 41865995 41865995 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr15:41865995C>T ENST00000263798.3 + 18 2488 c.2264C>T c.(2263-2265)cCg>cTg p.P755L TYRO3_ENST00000559066.1_Missense_Mutation_p.P710L NM_006293.3 NP_006284.2 Q06418 TYRO3_HUMAN TYRO3 protein tyrosine kinase 755 Protein kinase. integral to plasma membrane ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1) 43 all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117) AAACAGCCTCCGGAGTGTATG 0.547000 39 74 0 0 1 0 0 KCNN4 3783 broad.mit.edu 37 19 44273918 44273918 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:44273918C>T ENST00000262888.3 - 5 1278 c.883G>A c.(883-885)Gag>Aag p.E295K NM_002250.2 NP_002241.1 O15554 KCNN4_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4 295 Calmodulin-binding. defense response voltage-gated potassium channel complex calcium-activated potassium channel activity|calmodulin binding biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 15 Prostate(69;0.0352) Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468) ACGTGCTTCTCTGCCTTGTTA 0.577000 43 69 0 0 1 0 0 SLC1A5 6510 broad.mit.edu 37 19 47290723 47290723 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:47290723C>T ENST00000542575.2 - 1 1128 c.500G>A c.(499-501)gGa>gAa p.G167E NM_005628.2 NP_005619.1 Q15758 AAAT_HUMAN solute carrier family 1 (neutral amino acid transporter), member 5 167 cellular nitrogen compound metabolic process integral to plasma membrane|melanosome|membrane fraction neutral amino acid transmembrane transporter activity|protein binding|receptor activity|sodium:dicarboxylate symporter activity cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1) 13 all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107) OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341) L-Asparagine(DB00174)|L-Glutamine(DB00130) GCCCGCGGCTCCCACGGAGGC 0.692000 4 6 0 0 1 0 0 KNTC1 9735 broad.mit.edu 37 12 123019327 123019327 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:123019327C>T ENST00000333479.7 + 3 423 c.246C>T c.(244-246)gtC>gtT p.V82V KNTC1_ENST00000450485.2_Silent_p.V82V NM_014708.4 NP_055523.1 P50748 KNTC1_HUMAN kinetochore associated 1 82 cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole protein binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 72 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217) TGCATCTTGTCTTTGGTAAGT 0.363000 12 22 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76455995 76455995 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:76455995C>T ENST00000389840.5 - 60 9606 c.9482G>A c.(9481-9483)gGg>gAg p.G3161E DNAH17_ENST00000585328.1_Missense_Mutation_p.G3170E|DNAH17_ENST00000586052.1_5'UTR dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) GATCTTGCCCCCAGGTGCGGT 0.572000 24 34 0 0 1 0 0 ZNF665 79788 broad.mit.edu 37 19 53668314 53668314 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:53668314G>A ENST00000600412.1 - 2 1349 c.1234C>T c.(1234-1236)Cgg>Tgg p.R412W ZNF665_ENST00000396424.3_Missense_Mutation_p.R477W Q9H7R5 ZN665_HUMAN zinc finger protein 665 412 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 35 GBM - Glioblastoma multiforme(134;0.0196) TGAATTCCCCGATGACTTGCA 0.423000 27 49 0 0 1 0 0 MXRA7 439921 broad.mit.edu 37 17 74679983 74679983 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:74679983G>A ENST00000375036.2 - 4 584 c.527C>T c.(526-528)tCc>tTc p.S176F MXRA7_ENST00000588114.1_Intron|MXRA7_ENST00000449428.2_Intron|MXRA7_ENST00000589082.1_Missense_Mutation_p.S21F|MXRA7_ENST00000355797.3_Intron|MXRA7_ENST00000585519.1_Intron|MXRA7_ENST00000592148.1_Intron NM_001008529.1 NP_001008529.1 P84157 MXRA7_HUMAN matrix-remodelling associated 7 0 integral to membrane kidney(1)|large_intestine(2)|lung(2)|skin(1) 6 TTGCTACAGGGAAGTGAGGTC 0.498000 18 61 0 0 1 0 0 SETD2 29072 broad.mit.edu 37 3 47163677 47163677 + Missense_Mutation SNP T T A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:47163677T>A ENST00000409792.3 - 3 2491 c.2449A>T c.(2449-2451)Atg>Ttg p.M817L NM_014159.6 NP_054878.5 Q9BYW2 SETD2_HUMAN SET domain containing 2 817 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5) 141 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) GAAATCTTCATAACTGAAGGC 0.333000 """N, F, S, Mis""" clear cell renal carcinoma 26 35 0 0 1 0 0 HCRTR1 3061 broad.mit.edu 37 1 32085227 32085227 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:32085227C>T ENST00000403528.2 + 4 679 c.294C>T c.(292-294)atC>atT p.I98I HCRTR1_ENST00000373706.5_Silent_p.I98I|HCRTR1_ENST00000468521.1_Intron|HCRTR1_ENST00000373705.1_Silent_p.I98I NM_001525.2 NP_001516.2 O43613 OX1R_HUMAN hypocretin (orexin) receptor 1 98 feeding behavior|neuropeptide signaling pathway|synaptic transmission integral to plasma membrane breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1) 7 Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116) STAD - Stomach adenocarcinoma(196;0.053) TGACTGCTATCTGCCTGCCGG 0.597000 3 18 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126372376 126372376 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr4:126372376C>T ENST00000394329.3 + 9 10218 c.10205C>T c.(10204-10206)cCc>cTc p.P3402L FAT4_ENST00000335110.5_Missense_Mutation_p.P1700L NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 3402 Cadherin 32. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 AATGACCCACCCATTTTTACT 0.458000 36 94 0 0 1 0 0 GGN 199720 broad.mit.edu 37 19 38876800 38876800 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:38876800C>T ENST00000334928.6 - 3 1234 c.1102G>A c.(1102-1104)Ggg>Agg p.G368R AC005789.9_ENST00000585411.1_RNA|GGN_ENST00000591809.1_Intron NM_152657.3 NP_689870.3 Q86UU5 GGN_HUMAN gametogenetin 368 Interaction with GGNBP1 (By similarity).|Pro-rich. cell differentiation|multicellular organismal development|spermatogenesis breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 all_cancers(60;3.4e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) CCGCCAGCCCCGTTGAAGCGG 0.697000 3 8 0 0 1 0 0 SLAIN1 122060 broad.mit.edu 37 13 78335218 78335218 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr13:78335218G>A ENST00000466548.1 + 7 1630 c.1604G>A c.(1603-1605)cGa>cAa p.R535Q SLAIN1_ENST00000358679.3_Missense_Mutation_p.R272Q|SLAIN1_ENST00000267219.8_Missense_Mutation_p.R316Q|SLAIN1_ENST00000314070.5_Missense_Mutation_p.R158Q|SLAIN1_ENST00000351546.3_Missense_Mutation_p.R272Q|SLAIN1_ENST00000488699.1_Missense_Mutation_p.R393Q|SLAIN1_ENST00000418532.1_Missense_Mutation_p.R316Q NM_001242868.1 NP_001229797.1 Q8ND83 SLAI1_HUMAN SLAIN motif family, member 1 535 breast(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 14 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037) GBM - Glioblastoma multiforme(99;0.0853) AACCTGCCTCGAAGCAAAATT 0.463000 11 28 0 0 1 0 0 NRXN2 9379 broad.mit.edu 37 11 64398030 64398030 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:64398030C>T ENST00000265459.6 - 19 4062 c.3601G>A c.(3601-3603)Ggg>Agg p.G1201R NRXN2_ENST00000301894.2_Missense_Mutation_p.G155R|NRXN2_ENST00000377551.1_Missense_Mutation_p.G1201R|NRXN2_ENST00000409571.1_Missense_Mutation_p.G1194R|NRXN2_ENST00000377559.3_Missense_Mutation_p.G1161R NM_015080.3 NP_055895.1 Q9P2S2 NRX2A_HUMAN neurexin 2 1201 Laminin G-like 6. cell adhesion integral to membrane metal ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 71 AAGATCACCCCCACGGTGCCC 0.592000 11 30 0 0 1 0 0 HEPH 9843 broad.mit.edu 37 X 65409595 65409595 + Missense_Mutation SNP A A T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:65409595A>T ENST00000519389.1 + 6 1219 c.1040A>T c.(1039-1041)cAc>cTc p.H347L HEPH_ENST00000374727.3_Missense_Mutation_p.H296L|HEPH_ENST00000343002.2_Missense_Mutation_p.H293L|HEPH_ENST00000336279.5_Missense_Mutation_p.H26L|HEPH_ENST00000419594.1_Missense_Mutation_p.H296L|HEPH_ENST00000441993.2_Missense_Mutation_p.H296L Q9BQS7 HEPH_HUMAN hephaestin 293 Plastocyanin-like 2. 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 GTGGCCTGGCACTTGTTTGGC 0.443000 66 73 0 0 1 0 0 CCR4 1233 broad.mit.edu 37 3 32995561 32995561 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:32995561G>A ENST00000330953.5 + 2 815 c.647G>A c.(646-648)gGg>gAg p.G216E NM_005508.4 NP_005499.1 P51679 CCR4_HUMAN chemokine (C-C motif) receptor 4 216 chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response integral to plasma membrane NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1) 16 ATCCCCTTAGGGATCATGCTG 0.468000 38 65 0 0 1 0 0 C15orf59 388135 broad.mit.edu 37 15 74032482 74032482 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr15:74032482C>T ENST00000569673.1 - 3 1862 c.658G>A c.(658-660)Gag>Aag p.E220K C15orf59_ENST00000558834.1_5'UTR|C15orf59_ENST00000379822.4_Missense_Mutation_p.E220K Q2T9L4 CO059_HUMAN chromosome 15 open reading frame 59 220 breast(1)|endometrium(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 TGGGCAGGCTCAGGGGGCAAG 0.637000 15 22 0 0 1 0 0 ICAM2 3384 broad.mit.edu 37 17 62084044 62084044 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:62084044G>A ENST00000412356.1 - 3 362 c.8C>T c.(7-9)tCt>tTt p.S3F ICAM2_ENST00000449662.2_Missense_Mutation_p.S3F|ICAM2_ENST00000578892.1_Missense_Mutation_p.S3F|ICAM2_ENST00000581417.1_5'UTR|ICAM2_ENST00000579687.1_Missense_Mutation_p.S3F|ICAM2_ENST00000579788.1_Missense_Mutation_p.S3F|ICAM2_ENST00000578379.1_Intron|ICAM2_ENST00000418105.1_Missense_Mutation_p.S3F NM_001099786.1 NP_001093256.1 P13598 ICAM2_HUMAN intercellular adhesion molecule 2 3 cell-cell adhesion|regulation of immune response integral to plasma membrane integrin binding large_intestine(1)|lung(2)|ovary(1)|skin(2) 6 GTAACCGAAAGAGGACATCTC 0.602000 17 27 0 0 1 0 0 CYP4A22 284541 broad.mit.edu 37 1 47610115 47610115 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:47610115G>A ENST00000371891.3 + 7 908 c.877G>A c.(877-879)Gac>Aac p.D293N CYP4A22_ENST00000371890.3_Missense_Mutation_p.G241E|CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000485117.1_3'UTR|CYP4A22_ENST00000294337.3_Missense_Mutation_p.D293N NM_001010969.2 NP_001010969.2 Q5TCH4 CP4AM_HUMAN cytochrome P450, family 4, subfamily A, polypeptide 22 293 endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 GGATTTTCTGGACATCCTCCT 0.502000 48 46 0 0 1 0 0 VPS13B 157680 broad.mit.edu 37 8 100829876 100829876 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:100829876C>T ENST00000358544.2 + 45 8392 c.8281C>T c.(8281-8283)Cat>Tat p.H2761Y VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.H2736Y NM_017890.4 NP_060360.3 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 2761 protein transport NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) AGTTCGGGAACATTTTGACTG 0.428000 28 56 0 0 1 0 0 MINPP1 9562 broad.mit.edu 37 10 89312167 89312167 + Missense_Mutation SNP C C A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:89312167C>A ENST00000371996.4 + 5 1437 c.1396C>A c.(1396-1398)Ctt>Att p.L466I MINPP1_ENST00000472891.1_3'UTR|MINPP1_ENST00000536010.1_Missense_Mutation_p.L265I|MINPP1_ENST00000371994.4_3'UTR NM_004897.4 NP_004888.2 Q9UNW1 MINP1_HUMAN multiple inositol-polyphosphate phosphatase 1 466 bone mineralization|polyphosphate metabolic process endoplasmic reticulum lumen acid phosphatase activity|bisphosphoglycerate 3-phosphatase activity|multiple inositol-polyphosphate phosphatase activity|phosphohistidine phosphatase activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|urinary_tract(2) 5 Colorectal(252;0.122) UCEC - Uterine corpus endometrioid carcinoma (6;0.00123) CAAGGACATCCTTCAGAGTTG 0.358000 41 58 1.67305e-13 1.69743e-13 1 1 0 CAMTA1 23261 broad.mit.edu 37 1 7725001 7725001 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:7725001G>A ENST00000303635.7 + 9 2601 c.2394G>A c.(2392-2394)ggG>ggA p.G798G CAMTA1_ENST00000439411.2_Silent_p.G798G NM_015215.2 NP_056030.1 Q9Y6Y1 CMTA1_HUMAN calmodulin binding transcription activator 1 798 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 85 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) TGGTGTCGGGGGACAGCACGG 0.642000 T WWTR1 epitheliod hemangioendothelioma 109 85 0 0 1 0 0 KNTC1 9735 broad.mit.edu 37 12 123089936 123089936 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:123089936C>T ENST00000333479.7 + 51 5647 c.5470C>T c.(5470-5472)Cta>Tta p.L1824L KNTC1_ENST00000537348.1_Silent_p.L249L|KNTC1_ENST00000450485.2_Intron|KNTC1_ENST00000436959.3_5'UTR NM_014708.4 NP_055523.1 P50748 KNTC1_HUMAN kinetochore associated 1 1824 cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole protein binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 72 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217) GGAAAAATGGCTATGCCCTTC 0.363000 8 9 0 0 1 0 0 SLC6A8 6535 broad.mit.edu 37 X 152957558 152957558 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:152957558G>A ENST00000253122.5 + 4 1249 c.773G>A c.(772-774)gGa>gAa p.G258E SLC6A8_ENST00000430077.2_Missense_Mutation_p.G143E NM_001142805.1|NM_005629.3 NP_001136277.1|NP_005620.1 P48029 SC6A8_HUMAN solute carrier family 6 (neurotransmitter transporter), member 8 258 creatine metabolic process|muscle contraction integral to plasma membrane creatine:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1) 13 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) Creatine(DB00148) AAATCCACGGGAAAGGTACCA 0.632000 11 12 0 0 1 0 0 CYP4F2 8529 broad.mit.edu 37 19 15990174 15990174 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:15990174G>A ENST00000221700.5 - 12 1474 c.1379C>T c.(1378-1380)cCc>cTc p.P460L CYP4F2_ENST00000592328.1_Missense_Mutation_p.P460L NM_001082.3 NP_001073.3 P78329 CP4F2_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 2 460 leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 TGCCGAGAAGGGAATAAAAGC 0.582000 59 108 0 0 1 0 0 NIT2 56954 broad.mit.edu 37 3 100074063 100074063 + Missense_Mutation SNP T T A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:100074063T>A ENST00000394140.3 + 10 873 c.782T>A c.(781-783)tTt>tAt p.F261Y NM_020202.4 NP_064587.1 Q9NQR4 NIT2_HUMAN nitrilase family, member 2 261 CN hydrolase. nitrogen compound metabolic process omega-amidase activity breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1) 17 ATCCCCGTTTTTAGACAGAAG 0.408000 22 28 0 0 1 0 0 FAM135B 51059 broad.mit.edu 37 8 139160871 139160871 + Missense_Mutation SNP T T C TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:139160871T>C ENST00000395297.1 - 14 3510 c.3340A>G c.(3340-3342)Agt>Ggt p.S1114G NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 1114 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) GTTAAGTCACTGTACAGAAAT 0.368000 HNSCC(54;0.14) 20 42 0 0 1 0 0 FSCB 84075 broad.mit.edu 37 14 44975196 44975196 + Missense_Mutation SNP T T A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr14:44975196T>A ENST00000340446.4 - 1 1286 c.995A>T c.(994-996)gAa>gTa p.E332V NM_032135.3 NP_115511.3 Q5H9T9 FSCB_HUMAN fibrous sheath CABYR binding protein 332 Pro-rich. cilium breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 89 GBM - Glioblastoma multiforme(112;0.128) AGGCTGAATTTCAGCAGGAAA 0.522000 39 65 0 0 1 0 0 CT47B1 643311 broad.mit.edu 37 X 120008973 120008973 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:120008973G>A ENST00000371311.3 - 1 806 c.552C>T c.(550-552)ggC>ggT p.G184G NM_001145718.1 NP_001139190.1 P0C2W7 CT47B_HUMAN cancer/testis antigen family 47, member B1 184 breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1) 22 CGAGGCCCTCGCCTTCTGGGG 0.706000 38 43 0 0 1 0 0 HTR1A 3350 broad.mit.edu 37 5 63256536 63256536 + Silent SNP C C A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:63256536C>A ENST00000323865.3 - 1 1244 c.1011G>T c.(1009-1011)ctG>ctT p.L337L RP11-158J3.2_ENST00000502882.1_RNA NM_000524.3 NP_000515.2 P08908 5HT1A_HUMAN 5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled 337 behavior|positive regulation of cell proliferation integral to plasma membrane serotonin receptor activity cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 56 Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234) Lung(70;0.105) Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246) TCTCTCGGGCCAGGGCCATCT 0.602000 39 101 4.67007e-22 4.76855e-22 1 1 0 FMR1NB 158521 broad.mit.edu 37 X 147106430 147106430 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:147106430G>A ENST00000370467.3 + 5 752 c.678G>A c.(676-678)acG>acA p.T226T NM_152578.2 NP_689791.1 Q8N0W7 FMR1N_HUMAN fragile X mental retardation 1 neighbor 226 integral to membrane breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1) 25 Acute lymphoblastic leukemia(192;6.56e-05) GAGTTGTAACGGGTTTGAAGA 0.413000 30 81 0 0 1 0 0 OR4S1 256148 broad.mit.edu 37 11 48328429 48328429 + Missense_Mutation SNP A A G TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:48328429A>G ENST00000319988.1 + 1 655 c.655A>G c.(655-657)Atc>Gtc p.I219V NM_001004725.1 NP_001004725.1 Q8NGB4 OR4S1_HUMAN olfactory receptor, family 4, subfamily S, member 1 219 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3) 21 CTATGTTATCATCTTACTGAA 0.478000 45 75 0 0 1 0 0 PCDHB13 56123 broad.mit.edu 37 5 140594901 140594901 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:140594901C>T ENST00000341948.4 + 1 1393 c.1206C>T c.(1204-1206)acC>acT p.T402T NM_018933.2 NP_061756.1 Q9Y5F0 PCDBD_HUMAN 402 Cadherin 4. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1) 66 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACTTTTACACCCTACTAACGG 0.453000 34 57 0 0 1 0 0 SLC10A3 8273 broad.mit.edu 37 X 153716489 153716489 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:153716489G>A ENST00000263512.4 - 2 1289 c.791C>T c.(790-792)tCg>tTg p.S264L SLC10A3_ENST00000369649.4_Missense_Mutation_p.S235L|SLC10A3_ENST00000393586.1_Missense_Mutation_p.S319L|SLC10A3_ENST00000393587.4_Missense_Mutation_p.S264L NM_019848.3 NP_062822.1 P09131 P3_HUMAN solute carrier family 10, member 3 264 organic anion transport integral to membrane bile acid:sodium symporter activity endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GCCGCCAGGCGACGAGCAGGT 0.622000 44 61 0 0 1 0 0 PNCK 139728 broad.mit.edu 37 X 152936862 152936862 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:152936862C>T ENST00000393831.2 - 7 995 c.561G>A c.(559-561)atG>atA p.M187I PNCK_ENST00000447676.2_Intron|PNCK_ENST00000370150.1_Intron|PNCK_ENST00000340888.3_Intron|PNCK_ENST00000370145.4_Intron|PNCK_ENST00000370142.1_Missense_Mutation_p.M187I NM_001039582.3 NP_001034671.3 Q6P2M8 KCC1B_HUMAN pregnancy up-regulated nonubiquitous CaM kinase 179 Protein kinase. cytoplasm|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity breast(2)|lung(3)|skin(1) 6 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CACACGCAGCCATGCCGCTCA 0.642000 34 59 0 0 1 0 0 KDR 3791 broad.mit.edu 37 4 55968595 55968595 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr4:55968595C>T ENST00000263923.4 - 14 2363 c.2068G>A c.(2068-2070)Gca>Aca p.A690T NM_002253.2 NP_002244.1 P35968 VGFR2_HUMAN kinase insert domain receptor (a type III receptor tyrosine kinase) 690 Ig-like C2-type 7. angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) TTCCCAGATGCCGTGCATGAG 0.458000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 13 61 0 0 1 0 0 CADPS 8618 broad.mit.edu 37 3 62570986 62570986 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:62570986G>A ENST00000383710.4 - 8 1800 c.1451C>T c.(1450-1452)cCc>cTc p.P484L CADPS_ENST00000357948.3_Missense_Mutation_p.P484L|CADPS_ENST00000283269.9_Missense_Mutation_p.P484L NM_003716.3 NP_003707.2 Q9ULU8 CAPS1_HUMAN Ca++-dependent secretion activator 484 exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|cytosol|synapse lipid binding|metal ion binding breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2) 92 Lung SC(41;0.0452) BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334) GTTCGGGGTGGGATGGAGAAT 0.428000 41 80 0 0 1 0 0 OR5AR1 219493 broad.mit.edu 37 11 56431806 56431806 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:56431806C>T ENST00000302969.2 + 1 669 c.645C>T c.(643-645)ttC>ttT p.F215F NM_001004730.1 NP_001004730.1 Q8NGP9 O5AR1_HUMAN olfactory receptor, family 5, subfamily AR, member 1 (gene/pseudogene) 215 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1) 26 TCATCATCTTCATCTCCTATA 0.488000 46 68 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 2808744 2808744 + Missense_Mutation SNP A A T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:2808744A>T ENST00000520002.1 - 67 10651 c.10096T>A c.(10096-10098)Tta>Ata p.L3366I CSMD1_ENST00000602723.1_Missense_Mutation_p.L3189I|CSMD1_ENST00000400186.3_Missense_Mutation_p.L3189I|CSMD1_ENST00000537824.1_Missense_Mutation_p.L3365I|CSMD1_ENST00000602557.1_Missense_Mutation_p.L3366I|CSMD1_ENST00000542608.1_Missense_Mutation_p.L3188I Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 3366 integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CTTTTCCCTAAATATTCATAA 0.468000 3 11 0 0 1 0 0 MTFMT 123263 broad.mit.edu 37 15 65297257 65297257 + Nonsense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr15:65297257G>A ENST00000220058.4 - 8 923 c.910C>T c.(910-912)Cag>Tag p.Q304* NM_139242.3 NP_640335.2 Q96DP5 FMT_HUMAN mitochondrial methionyl-tRNA formyltransferase 304 mitochondrion methionyl-tRNA formyltransferase activity|methyltransferase activity endometrium(1)|large_intestine(3)|lung(3)|ovary(3) 10 Tetrahydrofolic acid(DB00116) ATAAGAGCCTGTCCCGTTAAT 0.299000 21 22 0 0 1 0 0 ZNF318 24149 broad.mit.edu 37 6 43316160 43316160 + Missense_Mutation SNP A A T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr6:43316160A>T ENST00000361428.2 - 6 3051 c.2974T>A c.(2974-2976)Tta>Ata p.L992I ZNF318_ENST00000318149.3_Missense_Mutation_p.L992I NM_014345.2 NP_055160.2 Q5VUA4 ZN318_HUMAN zinc finger protein 318 992 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 61 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) CTGTCACTTAAAGACTTCTGG 0.448000 40 111 0 0 1 0 0 MAGEL2 54551 broad.mit.edu 37 15 23889507 23889507 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr15:23889507C>T ENST00000532292.1 - 1 1668 c.1574G>A c.(1573-1575)aGg>aAg p.R525K NM_019066.4 NP_061939.3 MAGE-like 2 breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 7 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177) CAGATCCTCCCTGACACAGTT 0.443000 10 19 0 0 1 0 0 UBR2 23304 broad.mit.edu 37 6 42615901 42615901 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr6:42615901C>T ENST00000372899.1 + 22 2713 c.2455C>T c.(2455-2457)Cat>Tat p.H819Y UBR2_ENST00000372901.1_Missense_Mutation_p.H819Y|UBR2_ENST00000372883.3_Missense_Mutation_p.H323Y NM_015255.2 NP_056070.1 Q8IWV8 UBR2_HUMAN ubiquitin protein ligase E3 component n-recognin 2 819 cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade nucleus|plasma membrane leucine binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5) 64 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196) AGCAGTTGCCCATTTCAAGTG 0.353000 25 33 0 0 1 0 0 NF1 4763 broad.mit.edu 37 17 29665123 29665123 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:29665123G>A ENST00000358273.4 + 45 7168 c.6785G>A c.(6784-6786)gGg>gAg p.G2262E NF1_ENST00000356175.3_Missense_Mutation_p.G2241E|NF1_ENST00000444181.2_Missense_Mutation_p.G55E|NF1_ENST00000417592.2_Intron NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 2262 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(3) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) GTGTCTCATGGGCAGATAAAG 0.398000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 66 110 0 0 1 0 0 KIF26A 26153 broad.mit.edu 37 14 104642402 104642402 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr14:104642402G>A ENST00000315264.7 + 11 3238 c.2860G>A c.(2860-2862)Ggg>Agg p.G954R KIF26A_ENST00000423312.2_Missense_Mutation_p.G1093R Q9ULI4 KI26A_HUMAN kinesin family member 26A 1093 blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus cytosol|microtubule ATP binding|microtubule binding|microtubule motor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 21 all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767) Epithelial(46;0.152) Epithelial(152;0.161) GGCCCCTGAGGGGGGGCCCCT 0.677000 3 4 0 0 1 0 0 ANO2 57101 broad.mit.edu 37 12 5842044 5842044 + Splice_Site SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:5842044C>T ENST00000327087.8 - 14 1494 c.e14-1 ANO2_ENST00000546188.1_Intron|ANO2_ENST00000356134.5_Splice_Site|ANO2_ENST00000538154.1_Intron Q9NQ90 ANO2_HUMAN anoctamin 2 chloride channel complex|plasma membrane intracellular calcium activated chloride channel activity central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1) 58 GGGCACGTTCCTGGGGATAGC 0.488000 16 24 0 0 1 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113519998 113519998 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:113519998G>A ENST00000284601.3 - 4 1217 c.1149C>T c.(1147-1149)tcC>tcT p.S383S NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 383 glycogen metabolic process integral to membrane p.S383S(2) 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 CTCCCTTTACGGAGCTTTCTG 0.398000 68 123 0 0 1 0 0 ZNF718 255403 broad.mit.edu 37 4 154896 154896 + RNA SNP A A T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr4:154896A>T ENST00000510175.1 + 0 331 Q3SXZ3 ZN718_HUMAN zinc finger protein 718 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18) TACCCAGAAAAAAACAATTCA 0.249000 3 8 0 0 1 0 0 NAT6 24142 broad.mit.edu 37 3 50334273 50334273 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:50334273G>A ENST00000443842.1 - 2 1429 c.622C>T c.(622-624)Ctg>Ttg p.L208L NAT6_ENST00000417393.1_Silent_p.L208L|HYAL3_ENST00000513170.1_Intron|NAT6_ENST00000354862.4_Silent_p.L230L|NAT6_ENST00000443094.2_Silent_p.L208L|HYAL3_ENST00000415204.1_Intron|HYAL3_ENST00000359051.3_Intron|HYAL3_ENST00000336307.1_Intron|HYAL3_ENST00000450982.1_Intron N-acetyltransferase 6 (GCN5-related) endometrium(3)|lung(1)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) GCATTAAGCAGGGTGGCAGGC 0.647000 12 36 0 0 1 0 0 CCR9 10803 broad.mit.edu 37 3 45942755 45942755 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:45942755G>A ENST00000357632.2 + 3 655 c.475G>A c.(475-477)Gag>Aag p.E159K LZTFL1_ENST00000539217.1_Intron|LZTFL1_ENST00000536047.1_Intron|CCR9_ENST00000422395.1_3'UTR|CCR9_ENST00000395963.2_Missense_Mutation_p.E147K|CCR9_ENST00000355983.2_Missense_Mutation_p.E147K NM_001256369.1|NM_031200.2 NP_001243298.1|NP_112477.1 P51686 CCR9_HUMAN chemokine (C-C motif) receptor 9 159 cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|immune response integral to plasma membrane breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1) 20 BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214) TACTTGGAGGGAGAAAAGGCT 0.468000 25 30 0 0 1 0 0 COL24A1 255631 broad.mit.edu 37 1 86590599 86590599 + Missense_Mutation SNP A A C TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:86590599A>C ENST00000370571.2 - 3 1786 c.1420T>G c.(1420-1422)Tat>Gat p.Y474D COL24A1_ENST00000436319.1_Missense_Mutation_p.Y474D NM_152890.5 NP_690850.2 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 474 Poly-Tyr. cell adhesion collagen extracellular matrix structural constituent NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 101 all cancers(265;0.0627)|Epithelial(280;0.0689) TCCTCATAATAATAATAATCA 0.343000 22 20 0 0 1 0 0 TNXB 7148 broad.mit.edu 37 6 32036476 32036476 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr6:32036476C>T ENST00000375244.3 - 17 6112 c.5911G>A c.(5911-5913)Gag>Aag p.E1971K TNXB_ENST00000375247.2_Missense_Mutation_p.E1971K P22105 TENX_HUMAN tenascin XB 2053 Fibronectin type-III 12. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 GGCTTCTCCTCCTCCGGGACT 0.632000 29 19 0 0 1 0 0 IGKV1D-8 28904 broad.mit.edu 37 2 90260085 90260085 + RNA SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:90260085G>A ENST00000471857.1 + 0 369 CAAAAACCAGGGAAAGCCCCT 0.502000 41 73 0 0 1 0 0 ZNF366 167465 broad.mit.edu 37 5 71739683 71739683 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:71739683G>A ENST00000318442.5 - 5 2625 c.2135C>T c.(2134-2136)cCc>cTc p.P712L NM_152625.1 NP_689838.1 Q8N895 ZN366_HUMAN zinc finger protein 366 712 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 35 Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155) OV - Ovarian serous cystadenocarcinoma(47;2.51e-53) AGAAAAAGAGGGGCCCCGCCG 0.493000 39 86 0 0 1 0 0 ASTE1 28990 broad.mit.edu 37 3 130733106 130733106 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:130733106C>T ENST00000264992.3 - 6 2276 c.1835G>A c.(1834-1836)aGg>aAg p.R612K ATP2C1_ENST00000504381.1_Intron|ATP2C1_ENST00000513801.1_Intron|ATP2C1_ENST00000422190.2_Intron|ATP2C1_ENST00000328560.8_Intron|ATP2C1_ENST00000393221.4_Intron|ATP2C1_ENST00000359644.3_Intron|ATP2C1_ENST00000507488.2_Intron|ASTE1_ENST00000514044.1_Missense_Mutation_p.R637K|ATP2C1_ENST00000533801.2_Intron NM_014065.2 NP_054784.2 Q2TB18 ASTE1_HUMAN asteroid homolog 1 (Drosophila) 612 DNA repair nuclease activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1) 22 GGCATATGACCTTGTGGCATT 0.418000 22 34 0 0 1 0 0 MYH3 4621 broad.mit.edu 37 17 10558267 10558267 + Missense_Mutation SNP A A G TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:10558267A>G ENST00000583535.1 - 3 202 c.115T>C c.(115-117)Ttc>Ctc p.F39L MYH3_ENST00000226209.7_Missense_Mutation_p.F39L NM_002470.3 NP_002461.2 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, embryonic 39 Myosin head-like. muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 83 TCCACCACGAAGCAATACGTC 0.498000 68 111 0 0 1 0 0 SCN2A 6326 broad.mit.edu 37 2 166210777 166210777 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:166210777G>A ENST00000357398.3 + 17 3285 c.2995G>A c.(2995-2997)Gaa>Aaa p.E999K SCN2A_ENST00000283256.6_Missense_Mutation_p.E999K|SCN2A_ENST00000375427.2_Missense_Mutation_p.E999K|SCN2A_ENST00000375437.2_Missense_Mutation_p.E999K Q99250 SCN2A_HUMAN sodium channel, voltage-gated, type II, alpha subunit 999 myelination node of Ranvier|voltage-gated sodium channel complex voltage-gated sodium channel activity p.E999K(1) 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) TGATGATAACGAAATGAATAA 0.388000 85 139 0 0 1 0 0 IGHD 3495 broad.mit.edu 37 14 106311167 106311167 + RNA SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr14:106311167G>A ENST00000390556.2 - 0 395 CCTGTGTTACGGGTGGTGGCT 0.617000 2 2 0 0 1 0 0 HBP1 26959 broad.mit.edu 37 7 106826888 106826888 + Missense_Mutation SNP C C G TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:106826888C>G ENST00000222574.4 + 5 809 c.623C>G c.(622-624)cCt>cGt p.P208R HBP1_ENST00000468410.1_Missense_Mutation_p.P208R|HBP1_ENST00000485846.1_Missense_Mutation_p.P208R NM_012257.3 NP_036389.2 O60381 HBP1_HUMAN HMG-box transcription factor 1 208 AXH. cell cycle arrest|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway nucleus DNA binding large_intestine(4)|lung(3)|prostate(1)|skin(2) 10 AATTCCTGGCCTTCAACTGTC 0.388000 61 73 0 0 1 0 0 PIWIL2 55124 broad.mit.edu 37 8 22161620 22161620 + Missense_Mutation SNP A A C TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:22161620A>C ENST00000356766.6 + 11 1416 c.1268A>C c.(1267-1269)aAc>aCc p.N423T PIWIL2_ENST00000454009.2_Missense_Mutation_p.N423T|PIWIL2_ENST00000521356.1_Missense_Mutation_p.N423T NM_018068.3 NP_060538.2 Q8TC59 PIWL2_HUMAN piwi-like RNA-mediated gene silencing 2 423 PAZ. DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis chromatoid body|pi-body piRNA binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 46 Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707) ACCCGATATAACAATCGTACC 0.393000 49 73 0 0 1 0 0 TMEM55A 55529 broad.mit.edu 37 8 92007925 92007925 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:92007925G>A ENST00000285419.3 - 7 1068 c.754C>T c.(754-756)Cca>Tca p.P252S NM_018710.2 NP_061180.1 Q8N4L2 TM55A_HUMAN transmembrane protein 55A 252 integral to membrane|late endosome membrane|lysosomal membrane hydrolase activity breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 13 BRCA - Breast invasive adenocarcinoma(11;0.033) CTGTGTTCTGGATAACTGACT 0.403000 21 49 0 0 1 0 0 CDC42BPG 55561 broad.mit.edu 37 11 64595054 64595054 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:64595054C>T ENST00000342711.5 - 32 4094 c.4095G>A c.(4093-4095)ctG>ctA p.L1365L NM_017525.2 NP_059995.2 Q6DT37 MRCKG_HUMAN CDC42 binding protein kinase gamma (DMPK-like) 1365 CNH. actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|centrosome ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity central_nervous_system(1)|lung(3) 4 CGTAGAGGAACAGGGAGCCCT 0.682000 8 18 0 0 1 0 0 ADAM21 8747 broad.mit.edu 37 14 70924496 70924496 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr14:70924496G>A ENST00000603540.1 + 2 538 c.280G>A c.(280-282)Gat>Aat p.D94N ADAM21_ENST00000267499.3_Missense_Mutation_p.D94N|RP11-486O13.4_ENST00000556646.1_lincRNA NM_003813.3 NP_003804.2 Q9UKJ8 ADA21_HUMAN ADAM metallopeptidase domain 21 94 proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 31 all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) CACCTACACAGATGACCGTGC 0.512000 8 121 0 0 1 0 0 PPP2R2C 5522 broad.mit.edu 37 4 6374335 6374335 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr4:6374335G>A ENST00000335585.5 - 5 563 c.540C>T c.(538-540)tcC>tcT p.S180S PPP2R2C_ENST00000314348.8_5'UTR|PPP2R2C_ENST00000515571.1_Silent_p.S163S|PPP2R2C_ENST00000507294.1_Silent_p.S173S|PPP2R2C_ENST00000382599.4_Silent_p.S180S|PPP2R2C_ENST00000506140.1_Silent_p.S173S NM_181876.2 NP_870991.1 Q9Y2T4 2ABG_HUMAN protein phosphatase 2, regulatory subunit B, gamma 180 signal transduction protein phosphatase type 2A complex protein phosphatase type 2A regulator activity central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 28 CACTGTTGACGGAGATGGAGT 0.572000 26 89 0 0 1 0 0 OR5M11 219487 broad.mit.edu 37 11 56309824 56309824 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:56309824G>A ENST00000528616.2 - 1 933 c.910C>T c.(910-912)Ctg>Ttg p.L304L NM_001005245.1 NP_001005245.1 Q96RB7 OR5MB_HUMAN olfactory receptor, family 5, subfamily M, member 11 304 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14) 18 TTTCATCTCAGGACATTCTTC 0.383000 11 17 0 0 1 0 0 TAF7L 54457 broad.mit.edu 37 X 100547782 100547782 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:100547782C>T ENST00000372907.3 - 1 263 c.252G>A c.(250-252)ggG>ggA p.G84G TAF7L_ENST00000372905.2_5'UTR NM_024885.3 NP_079161.3 Q5H9L4 TAF7L_HUMAN TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa 84 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter cytoplasm|transcription factor TFIID complex binding NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 29 ACCTACCTTTCCCTTCCTGGA 0.532000 63 54 0 0 1 0 0 CLMN 79789 broad.mit.edu 37 14 95670599 95670599 + Missense_Mutation SNP G G A rs140868681 TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr14:95670599G>A ENST00000298912.4 - 9 1200 c.1087C>T c.(1087-1089)Cgc>Tgc p.R363C NM_024734.3 NP_079010.2 Q96JQ2 CLMN_HUMAN calmin (calponin-like, transmembrane) 363 integral to membrane actin binding p.R363C(1) central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3) 44 Epithelial(152;0.193) CCATCCAGGCGGAATTCCTTC 0.542000 42 78 0 0 1 0 0 ACCSL 390110 broad.mit.edu 37 11 44073226 44073226 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:44073226C>T ENST00000378832.1 + 5 785 c.729C>T c.(727-729)tgC>tgT p.C243C NM_001031854.2 NP_001027025.2 Q4AC99 1A1L2_HUMAN 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like 243 1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2) 34 ATGGCTGCTGCTCTGTCTTCT 0.502000 71 125 0 0 1 0 0 ZNF660 285349 broad.mit.edu 37 3 44636095 44636095 + Missense_Mutation SNP A A T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:44636095A>T ENST00000322734.2 + 3 743 c.410A>T c.(409-411)aAa>aTa p.K137I RP11-944L7.4_ENST00000457331.1_RNA NM_173658.2 NP_775929.2 Q6AZW8 ZN660_HUMAN zinc finger protein 660 137 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(2)|lung(4) 6 KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585) TATGAATGTAAAGAGTGTGGG 0.458000 31 55 0 0 1 0 0 UNC5A 90249 broad.mit.edu 37 5 176304608 176304608 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:176304608C>T ENST00000329542.4 + 10 1813 c.1539C>T c.(1537-1539)acC>acT p.T513T UNC5A_ENST00000261961.3_Silent_p.T473T NM_133369.2 NP_588610.2 Q6ZN44 UNC5A_HUMAN unc-5 homolog A (C. elegans) 513 ZU5. apoptosis|axon guidance|regulation of apoptosis integral to membrane|plasma membrane endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 34 all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115) Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TCCTGCTCACCCGGCCAGTCA 0.637000 15 37 0 0 1 0 0 DNMT3A 1788 broad.mit.edu 37 2 25470969 25470969 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:25470969G>A ENST00000264709.3 - 7 1129 c.792C>T c.(790-792)ccC>ccT p.P264P DNMT3A_ENST00000321117.5_Silent_p.P264P|DNMT3A_ENST00000380746.4_Silent_p.P75P|DNMT3A_ENST00000402667.1_Silent_p.P41P NM_175629.2 NP_783328.1 Q9Y6K1 DNM3A_HUMAN DNA (cytosine-5-)-methyltransferase 3 alpha 264 Interaction with DNMT1 and DNMT3B. regulation of gene expression by genetic imprinting cytoplasm|euchromatin|nuclear matrix DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 1021 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CGGACCCCACGGGCTCAGGCG 0.657000 """Mis, F, N, S""" AML 39 45 0 0 1 0 0 C5 727 broad.mit.edu 37 9 123797116 123797116 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr9:123797116G>A ENST00000223642.1 - 5 578 c.549C>T c.(547-549)atC>atT p.I183I NM_001735.2 NP_001726.2 P01031 CO5_HUMAN complement component 5 183 activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production extracellular space|membrane attack complex chemokine activity|endopeptidase inhibitor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242) Eculizumab(DB01257) CAGGAAAAGAGATAATTCCAA 0.353000 14 6 0 0 1 0 0 BMP3 651 broad.mit.edu 37 4 81967228 81967228 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr4:81967228G>A ENST00000282701.2 + 2 973 c.653G>A c.(652-654)gGa>gAa p.G218E NM_001201.2 NP_001192.2 P12645 BMP3_HUMAN bone morphogenetic protein 3 218 cartilage development|cell differentiation|cell-cell signaling|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1) 29 TTCCTCATAGGATTTAACATT 0.438000 73 51 0 0 1 0 0 YAE1D1 57002 broad.mit.edu 37 7 39606101 39606101 + Silent SNP C C G TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:39606101C>G ENST00000432096.2 + 1 97 c.84C>G c.(82-84)ctC>ctG p.L28L YAE1D1_ENST00000448268.1_Silent_p.L28L|YAE1D1_ENST00000223273.2_Silent_p.L28L Q9NRH1 CG036_HUMAN Yae1 domain containing 1 28 ACGAGTCGCTCCTGGCGCAGC 0.587000 33 29 0 0 1 0 0 MYO18B 84700 broad.mit.edu 37 22 26423575 26423575 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr22:26423575G>A ENST00000335473.7 + 43 7885 c.7635G>A c.(7633-7635)cgG>cgA p.R2545R MYO18B_ENST00000407587.2_Silent_p.R2546R|MYO18B_ENST00000536101.1_Silent_p.R2545R NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 2545 nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 CCCCCGAGCGGAGAGAGCCAG 0.562000 10 21 0 0 1 0 0 CARD11 84433 broad.mit.edu 37 7 2951812 2951812 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:2951812G>A ENST00000396946.4 - 23 3541 c.3138C>T c.(3136-3138)gcC>gcT p.A1046A NM_032415.4 NP_115791.3 Q9BXL7 CAR11_HUMAN caspase recruitment domain family, member 11 1046 Guanylate kinase-like. positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway cytosol|membrane raft|plasma membrane CARD domain binding|guanylate kinase activity NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2) 150 Ovarian(82;0.0115) OV - Ovarian serous cystadenocarcinoma(56;8.44e-14) TCACCTTGGCGGCCACAGCTT 0.602000 Mis DLBCL 23 47 0 0 1 0 0 SLC9A5 6553 broad.mit.edu 37 16 67292323 67292323 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr16:67292323C>T ENST00000299798.11 + 10 1664 c.1599C>T c.(1597-1599)atC>atT p.I533I NM_004594.2 NP_004585.1 Q14940 SL9A5_HUMAN solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5 533 regulation of pH integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1) 27 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116) GGCTTAACATCCGGGATGCCA 0.582000 18 33 0 0 1 0 0 RAD54L2 23132 broad.mit.edu 37 3 51696445 51696445 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:51696445C>T ENST00000409535.1 + 22 3538 c.3413C>T c.(3412-3414)tCc>tTc p.S1138F RAD54L2_ENST00000296477.3_Missense_Mutation_p.S832F NM_015106.2 NP_055921.2 Q9Y4B4 ARIP4_HUMAN RAD54-like 2 (S. cerevisiae) 1138 nucleus ATP binding|DNA binding|helicase activity NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2) 31 BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896) TCCCCAGGTTCCCAGGGACCT 0.542000 25 43 0 0 1 0 0 TCP11L2 255394 broad.mit.edu 37 12 106734726 106734726 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:106734726G>A ENST00000299045.3 + 9 1439 c.1265G>A c.(1264-1266)gGt>gAt p.G422D NM_152772.1 NP_689985.1 Q8N4U5 T11L2_HUMAN t-complex 11, testis-specific-like 2 422 endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2) 15 AATCTTATAGGTCAATTTTCA 0.373000 90 76 0 0 1 0 0 SCMH1 22955 broad.mit.edu 37 1 41540981 41540981 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:41540981C>T ENST00000402904.2 - 9 1226 c.858G>A c.(856-858)aaG>aaA p.K286K SCMH1_ENST00000397174.2_Silent_p.K266K|SCMH1_ENST00000397171.2_Silent_p.K225K|SCMH1_ENST00000372595.1_Silent_p.K225K|SCMH1_ENST00000361191.5_Silent_p.K225K|SCMH1_ENST00000372596.1_Silent_p.K225K|SCMH1_ENST00000361705.3_Silent_p.K239K|SCMH1_ENST00000337495.5_Silent_p.K296K|SCMH1_ENST00000372597.1_Silent_p.K239K|SCMH1_ENST00000326197.7_Silent_p.K286K|SCMH1_ENST00000456518.2_Silent_p.K128K NM_001031694.2 NP_001026864.1 Q96GD3 SCMH1_HUMAN sex comb on midleg homolog 1 (Drosophila) 286 anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1) 15 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162) Myeloproliferative disorder(586;0.0393) AAATTAGGGTCTTGGGTGTCC 0.532000 64 54 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237890480 237890480 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:237890480C>T ENST00000366574.2 + 76 11136 c.10819C>T c.(10819-10821)Ccc>Tcc p.P3607S RYR2_ENST00000360064.6_Missense_Mutation_p.P3605S|RYR2_ENST00000542537.1_Missense_Mutation_p.P3591S NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 3607 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CCGGATGGCCCCCTTATATAA 0.398000 19 19 0 0 1 0 0 BCAT1 586 broad.mit.edu 37 12 24995059 24995059 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:24995059C>T ENST00000261192.7 - 7 1300 c.774G>A c.(772-774)gtG>gtA p.V258V BCAT1_ENST00000544418.1_5'UTR|BCAT1_ENST00000539282.1_Silent_p.V270V|BCAT1_ENST00000538118.1_Silent_p.V257V|BCAT1_ENST00000539780.1_Silent_p.V221V|BCAT1_ENST00000342945.5_Silent_p.V197V NM_001178091.1|NM_005504.6 NP_001171562.1|NP_005495.2 P54687 BCAT1_HUMAN branched chain amino-acid transaminase 1, cytosolic 258 branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle cytosol L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity breast(1)|large_intestine(1)|lung(3)|prostate(2) 7 Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196) Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114) TCATAGTTCCCACTTCAGTGA 0.428000 5 24 0 0 1 0 0 PRR16 51334 broad.mit.edu 37 5 120021865 120021865 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:120021865C>T ENST00000379551.2 + 3 664 c.307C>T c.(307-309)Cct>Tct p.P103S PRR16_ENST00000407149.2_Missense_Mutation_p.P126S|PRR16_ENST00000505123.1_Missense_Mutation_p.P56S|PRR16_ENST00000446965.1_Missense_Mutation_p.P56S NM_016644.1 NP_057728.1 Q569H4 PRR16_HUMAN proline rich 16 126 Pro-rich. endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 28 all_cancers(142;0.0464)|Prostate(80;0.00446) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169) TCCACCACCTCCTCCAAGGTT 0.512000 36 49 0 0 1 0 0 CREBRF 153222 broad.mit.edu 37 5 172517687 172517687 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:172517687C>T ENST00000540014.1 + 4 824 c.505C>T c.(505-507)Ccc>Tcc p.P169S CREBRF_ENST00000296953.2_Missense_Mutation_p.P169S|CREBRF_ENST00000522692.1_Missense_Mutation_p.P169S|CREBRF_ENST00000520420.1_Missense_Mutation_p.P169S Q8IUR6 CE041_HUMAN CREB3 regulatory factor 169 protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity AAATCCCTTACCCTCTTCATT 0.443000 14 34 0 0 1 0 0 NDUFB2 4708 broad.mit.edu 37 7 140402710 140402710 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:140402710C>T ENST00000476279.1 + 2 217 c.143C>T c.(142-144)cCc>cTc p.P48L NDUFB2_ENST00000464564.2_3'UTR|NDUFB2_ENST00000204307.5_Missense_Mutation_p.P38L|NDUFB2_ENST00000461457.1_Intron|NDUFB2_ENST00000247866.4_Missense_Mutation_p.P48L|NDUFB2_ENST00000465506.1_Missense_Mutation_p.P48L|NDUFB2_ENST00000472695.1_5'UTR|NDUFB2_ENST00000475276.1_Missense_Mutation_p.P21L|NDUFB2_ENST00000476470.1_5'UTR|NDUFB2_ENST00000482954.1_5'UTR|NDUFB2_ENST00000471136.1_Missense_Mutation_p.P36L|NDUFB2_ENST00000460088.1_5'UTR O95178 NDUB2_HUMAN NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 2, 8kDa 48 mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|stomach(1) 10 Melanoma(164;0.00956) NADH(DB00157) AGACAGTTCCCCCAGCTGACC 0.532000 84 92 0 0 1 0 0 RBM47 54502 broad.mit.edu 37 4 40438596 40438596 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr4:40438596G>A ENST00000381793.2 - 4 1588 c.1192C>T c.(1192-1194)Ctc>Ttc p.L398F RBM47_ENST00000381795.6_Intron|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000295971.7_Missense_Mutation_p.L398F|RBM47_ENST00000514014.1_Missense_Mutation_p.L360F|RBM47_ENST00000319592.4_Intron A0AV96 RBM47_HUMAN RNA binding motif protein 47 398 nucleus nucleotide binding|RNA binding breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 29 TATCCCCCGAGGTAGGAACCC 0.493000 60 64 0 0 1 0 0 C19orf57 79173 broad.mit.edu 37 19 14000492 14000492 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:14000492C>T ENST00000454313.1 - 6 1235 c.1177G>A c.(1177-1179)Gaa>Aaa p.E393K C19orf57_ENST00000586783.1_Missense_Mutation_p.E393K|C19orf57_ENST00000591586.1_Intron|C19orf57_ENST00000346736.2_Missense_Mutation_p.E393K Q0VDD7 CS057_HUMAN chromosome 19 open reading frame 57 393 multicellular organismal development protein binding breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(19;2e-21) CCTGTGGTTTCCCCAGTGAGC 0.672000 13 19 0 0 1 0 0 ZNF75D 7626 broad.mit.edu 37 X 134421321 134421321 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:134421321C>T ENST00000370766.3 - 7 3990 c.1281G>A c.(1279-1281)ggG>ggA p.G427G ZNF75D_ENST00000370764.1_Silent_p.G332G|ZNF75D_ENST00000494295.1_Intron NM_007131.3 NP_009062.2 P51815 ZN75D_HUMAN zinc finger protein 75D 427 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2) 31 TAAAGCTTTTCCCACACCATG 0.373000 77 109 0 0 1 0 0 CLEC5A 23601 broad.mit.edu 37 7 141635614 141635614 + Splice_Site SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:141635614C>T ENST00000546910.1 - 5 541 c.345_splice c.e5+1 p.L115_splice CLEC5A_ENST00000439991.1_Intron|CLEC5A_ENST00000470595.1_Intron|CLEC5A_ENST00000438351.1_Splice_Site_p.L92_splice|CLEC5A_ENST00000551012.2_Splice_Site_p.L92_splice NM_013252.2 NP_037384.1 Q9NY25 CLC5A_HUMAN C-type lectin domain family 5, member A 115 C-type lectin. anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development cell surface|integral to plasma membrane sugar binding|viral receptor activity endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1) 10 Melanoma(164;0.0171) GTGTTCTCACCAGTTTCTCTG 0.478000 53 55 0 0 1 0 0 SORCS3 22986 broad.mit.edu 37 10 106937929 106937929 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:106937929G>A ENST00000369701.3 + 14 2234 c.2007G>A c.(2005-2007)atG>atA p.M669I SORCS3_ENST00000369699.4_Intron NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 669 integral to membrane neuropeptide receptor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 131 Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191) Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628) CCCACATCATGACGTGAGTAC 0.493000 20 26 0 0 1 0 0 IL1RL1 9173 broad.mit.edu 37 2 102959584 102959584 + Missense_Mutation SNP A A C TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:102959584A>C ENST00000311734.2 + 7 1110 c.771A>C c.(769-771)aaA>aaC p.K257N IL1RL1_ENST00000409584.1_Missense_Mutation_p.K243N|IL1RL1_ENST00000233954.1_Missense_Mutation_p.K257N|IL1RL1_ENST00000404917.2_Missense_Mutation_p.K140N Q01638 ILRL1_HUMAN interleukin 1 receptor-like 1 257 Ig-like C2-type 3. innate immune response integral to membrane interleukin-1 receptor activity|receptor signaling protein activity NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1) 16 ATGGAACAAAAATTACAGACT 0.423000 41 68 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179544117 179544117 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:179544117C>T ENST00000589042.1 - 142 33915 c.33691G>A c.(33691-33693)Gag>Aag p.E11231K TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E9987K|TTN_ENST00000591111.1_Missense_Mutation_p.E10914K|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 10914 Glu-rich.|Pro-rich. 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) GGAACTTTCTCCTCTGGCTTC 0.378000 23 43 0 0 1 0 0 ZC3H3 23144 broad.mit.edu 37 8 144557717 144557717 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:144557717C>T ENST00000262577.5 - 5 1785 c.1754G>A c.(1753-1755)gGg>gAg p.G585E NM_015117.2 NP_055932.2 Q8IXZ2 ZC3H3_HUMAN zinc finger CCCH-type containing 3 585 mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus nucleus nucleic acid binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107) TTTCCCACCCCCGCTGGCAAC 0.612000 7 12 0 0 1 0 0 EXTL1 2134 broad.mit.edu 37 1 26349152 26349152 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:26349152G>A ENST00000374280.3 + 1 882 c.15G>A c.(13-15)agG>agA p.R5R NM_004455.2 NP_004446.2 Q92935 EXTL1_HUMAN exostosin-like glycosyltransferase 1 5 skeletal system development integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1) 23 Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649) AGTCGTGGAGGAGAAGAAAGT 0.647000 20 28 0 0 1 0 0 TCF7L1 83439 broad.mit.edu 37 2 85536504 85536504 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:85536504C>T ENST00000282111.3 + 12 1961 c.1686C>T c.(1684-1686)ttC>ttT p.F562F NM_031283.2 NP_112573.1 Q9HCS4 TF7L1_HUMAN transcription factor 7-like 1 (T-cell specific, HMG-box) 562 chromatin organization|regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway nucleus DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1) 18 CCCCGTCCTTCCCCGCCACGC 0.701000 25 40 0 0 1 0 0 NOL11 25926 broad.mit.edu 37 17 65733747 65733747 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:65733747C>T ENST00000253247.4 + 12 1457 c.1342C>T c.(1342-1344)Cca>Tca p.P448S NOL11_ENST00000535137.1_Missense_Mutation_p.P266S NM_015462.3 NP_056277.2 Q9H8H0 NOL11_HUMAN nucleolar protein 11 448 nucleolus haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1) 11 all_cancers(12;1.54e-10) BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24) TAAAGCAGAACCATCATTTTA 0.438000 35 110 0 0 1 0 0 TLR7 51284 broad.mit.edu 37 X 12906091 12906091 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:12906091G>A ENST00000380659.3 + 3 2603 c.2464G>A c.(2464-2466)Ggc>Agc p.G822S NM_016562.3 NP_057646.1 Q9NYK1 TLR7_HUMAN toll-like receptor 7 822 cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 44 Imiquimod(DB00724) AGCACACAAGGGCCAAAGTGT 0.483000 60 107 0 0 1 0 0 MUC15 143662 broad.mit.edu 37 11 26586799 26586799 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:26586799G>A ENST00000436318.2 - 2 821 c.688C>T c.(688-690)Cct>Tct p.P230S ANO3_ENST00000537978.1_Intron|MUC15_ENST00000529533.1_Missense_Mutation_p.P230S|ANO3_ENST00000256737.3_Intron|ANO3_ENST00000531568.1_Intron|MUC15_ENST00000455601.2_Missense_Mutation_p.P203S|MUC15_ENST00000281268.8_Missense_Mutation_p.P230S|ANO3_ENST00000525139.1_Intron|MUC15_ENST00000527569.1_Missense_Mutation_p.P230S Q8N387 MUC15_HUMAN mucin 15, cell surface associated 203 extracellular region|integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 25 TCTTGATAAGGGGTAAACCCA 0.398000 29 67 0 0 1 0 0 CNKSR1 10256 broad.mit.edu 37 1 26510594 26510594 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:26510594G>A ENST00000531191.1 + 9 1121 c.114G>A c.(112-114)caG>caA p.Q38Q CNKSR1_ENST00000374253.5_Silent_p.Q303Q|CNKSR1_ENST00000361530.6_Silent_p.Q296Q Q969H4 CNKR1_HUMAN connector enhancer of kinase suppressor of Ras 1 303 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) CCCCGCACCAGAGGAGCCCAT 0.617000 17 51 0 0 1 0 0 SNX17 9784 broad.mit.edu 37 2 27596752 27596752 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:27596752G>A ENST00000233575.2 + 5 568 c.346G>A c.(346-348)Gaa>Aaa p.E116K SNX17_ENST00000537606.1_Missense_Mutation_p.E91K|SNX17_ENST00000542478.1_5'UTR|SNX17_ENST00000543024.1_5'UTR NM_001267059.1|NM_001267061.1|NM_014748.3 NP_001253988.1|NP_001253990.1|NP_055563.1 Q15036 SNX17_HUMAN sorting nexin 17 116 Ras-associating. cell communication|endosome transport|intracellular protein transport|regulation of endocytosis|signal transduction cytoplasmic vesicle membrane|cytosol|early endosome|Golgi apparatus low-density lipoprotein particle receptor binding|phosphatidylinositol binding|protein C-terminus binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1) 14 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCCCACAGAGGAAGTGTCCTT 0.537000 6 19 0 0 1 0 0 MKL2 57496 broad.mit.edu 37 16 14341306 14341306 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr16:14341306C>T ENST00000571589.1 + 12 2361 c.2189C>T c.(2188-2190)tCc>tTc p.S730F MKL2_ENST00000318282.5_Intron|MKL2_ENST00000341243.5_Missense_Mutation_p.S719F|MKL2_ENST00000574045.1_Intron NM_014048.3 NP_054767.3 Q9ULH7 MKL2_HUMAN MKL/myocardin-like 2 719 Gln-rich. cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent identical protein binding|nucleic acid binding|transcription coactivator activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 CTCCCAGTGTCCATCCAGGGC 0.552000 4 9 0 0 1 0 0 NGDN 25983 broad.mit.edu 37 14 23944467 23944467 + Missense_Mutation SNP G G A rs147692634 byFrequency TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr14:23944467G>A ENST00000397154.3 + 4 245 c.232G>A c.(232-234)Gga>Aga p.G78R NGDN_ENST00000408901.3_Missense_Mutation_p.G78R Q8NEJ9 NGDN_HUMAN neuroguidin, EIF4E binding protein 78 Necessary for interaction with EIF4E (By similarity). regulation of translation axon|cytoplasm|dendrite|filopodium|nucleus NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1) 12 all_cancers(95;0.000251) GBM - Glioblastoma multiforme(265;0.00654) AGCCTCAGGAGGATCTCTTCA 0.458000 34 56 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38897329 38897329 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr6:38897329G>A ENST00000359357.3 + 73 10764 c.10510G>A c.(10510-10512)Gac>Aac p.D3504N RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000441566.1_Missense_Mutation_p.D3468N|RP1-207H1.3_ENST00000453417.1_RNA|RP1-207H1.3_ENST00000418399.1_RNA|DNAH8_ENST00000449981.2_Missense_Mutation_p.D3721N dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 ACACTTGGAGGACAGCCTTTC 0.408000 47 32 0 0 1 0 0 PLCH1 23007 broad.mit.edu 37 3 155199306 155199306 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:155199306G>A ENST00000460012.1 - 23 4776 c.4419C>T c.(4417-4419)taC>taT p.Y1473Y PLCH1_ENST00000414191.1_Silent_p.Y1473Y|PLCH1_ENST00000334686.6_Silent_p.Y1473Y|PLCH1_ENST00000340059.7_Silent_p.Y1511Y|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000494598.1_Intron Q4KWH8 PLCH1_HUMAN phospholipase C, eta 1 1511 lipid catabolic process|phosphatidylinositol-mediated signaling membrane calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 107 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) TAATACACTGGTACTTGCTCT 0.453000 25 38 0 0 1 0 0 AFMID 125061 broad.mit.edu 37 17 76200817 76200817 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:76200817C>T ENST00000409257.5 + 5 443 c.389C>T c.(388-390)cCc>cTc p.P130L AFMID_ENST00000589664.1_Intron|AFMID_ENST00000327898.5_Missense_Mutation_p.P130L|AFMID_ENST00000588800.1_Intron|AFMID_ENST00000591952.1_Intron NM_001010982.4|NM_001145526.2 NP_001010982.2|NP_001138998.1 Q63HM1 AFMID_HUMAN arylformamidase 130 cytosol|nucleus arylformamidase activity autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1) 19 BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134) GGCATCGCCCCCAAAGGTAAT 0.592000 13 27 0 0 1 0 0 ZNF337 26152 broad.mit.edu 37 20 25655811 25655811 + Silent SNP T T G TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr20:25655811T>G ENST00000376436.1 - 4 2652 c.2113A>C c.(2113-2115)Aga>Cga p.R705R RP4-694B14.5_ENST00000455791.1_RNA|RP4-694B14.5_ENST00000439498.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA|ZNF337_ENST00000252979.5_Silent_p.R705R|ZNF337_ENST00000538750.1_Silent_p.R673R zinc finger protein 337 breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 GTGTGTATTCTTTCATGCACA 0.453000 62 107 0 0 1 0 0 OR6N2 81442 broad.mit.edu 37 1 158746855 158746855 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:158746855C>T ENST00000339258.1 - 1 570 c.571G>A c.(571-573)Gac>Aac p.D191N NM_001005278.1 NP_001005278.1 Q8NGY6 OR6N2_HUMAN olfactory receptor, family 6, subfamily N, member 2 191 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_hematologic(112;0.0378) GCAGATGTGTCCTTGCAGGCC 0.418000 10 25 0 0 1 0 0 ATP5C1 509 broad.mit.edu 37 10 7841765 7841765 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:7841765C>T ENST00000356708.7 + 5 538 c.459C>T c.(457-459)ttC>ttT p.F153F ATP5C1_ENST00000541227.1_Silent_p.F106F|ATP5C1_ENST00000335698.4_Silent_p.F153F|ATP5C1_ENST00000493053.1_3'UTR NM_001001973.1 NP_001001973.1 P36542 ATPG_HUMAN ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1 153 oxidative phosphorylation|respiratory electron transport chain mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1) hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism breast(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|urinary_tract(1) 16 TGGTGGCATTCAAAGAAGTGG 0.428000 26 37 0 0 1 0 0 TIE1 7075 broad.mit.edu 37 1 43774667 43774667 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:43774667C>T ENST00000372476.3 + 8 1132 c.1053C>T c.(1051-1053)ccC>ccT p.P351P TIE1_ENST00000433781.2_5'UTR|TIE1_ENST00000441333.2_Intron NM_001253357.1|NM_005424.4 NP_001240286.1|NP_005415.1 P35590 TIE1_HUMAN tyrosine kinase with immunoglobulin-like and EGF-like domains 1 351 mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 70 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) ACCGGATCCCCCAGATCCTCA 0.597000 8 39 0 0 1 0 0 IGKV1-27 28935 broad.mit.edu 37 2 89513367 89513367 + RNA SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:89513367G>A ENST00000498435.1 - 0 46 AGCTGAGCAGGGACCCTCATG 0.522000 26 54 0 0 1 0 0 ZNF804B 219578 broad.mit.edu 37 7 88847469 88847469 + Splice_Site SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:88847469G>A ENST00000333190.4 + 2 718 c.108_splice c.e2-1 p.D37_splice NM_181646.2 NP_857597.1 A4D1E1 Z804B_HUMAN zinc finger protein 804B 37 intracellular zinc ion binding NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9) 144 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) TTTCTTAAAGGATTTTGCAGA 0.348000 HNSCC(36;0.09) 24 39 0 0 1 0 0 ST18 9705 broad.mit.edu 37 8 53073958 53073958 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:53073958C>T ENST00000276480.7 - 14 2254 c.1571G>A c.(1570-1572)cGa>cAa p.R524Q NM_014682.2 NP_055497.1 O60284 ST18_HUMAN suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) 524 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.R524Q(1) NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229) TGGTGTTTTTCGTCCTTGCAC 0.438000 25 61 0 0 1 0 0 SEZ6L 23544 broad.mit.edu 37 22 26688598 26688598 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr22:26688598C>T ENST00000529632.2 + 2 517 c.321C>T c.(319-321)gcC>gcT p.A107A SEZ6L_ENST00000404234.3_Silent_p.A107A|SEZ6L_ENST00000403121.1_5'UTR|SEZ6L_ENST00000402979.1_5'UTR|SEZ6L_ENST00000248933.6_Silent_p.A107A|SEZ6L_ENST00000343706.4_Silent_p.A107A|SEZ6L_ENST00000360929.3_Silent_p.A107A NM_001184774.1|NM_001184775.1|NM_001184777.1 NP_001171703.1|NP_001171704.1|NP_001171706.1 Q9BYH1 SE6L1_HUMAN seizure related 6 homolog (mouse)-like 107 endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 80 CAGAGGAGGCCCGCCCCAAGC 0.652000 13 16 0 0 1 0 0 ACACB 32 broad.mit.edu 37 12 109690903 109690903 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:109690903C>T ENST00000338432.7 + 43 6104 c.5985C>T c.(5983-5985)acC>acT p.T1995T ACACB_ENST00000543201.1_Silent_p.T661T|ACACB_ENST00000377854.5_Silent_p.T1925T|ACACB_ENST00000377848.3_Silent_p.T1995T O00763 ACACB_HUMAN acetyl-CoA carboxylase beta 1995 Carboxyltransferase. acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 Biotin(DB00121) CCCACATCACCGTGCCAGATG 0.512000 76 207 0 0 1 0 0 ACOX1 51 broad.mit.edu 37 17 73945810 73945810 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:73945810G>A ENST00000537812.1 - 10 2001 c.1353C>T c.(1351-1353)ctC>ctT p.L451L ACOX1_ENST00000301608.4_Silent_p.L489L|ACOX1_ENST00000293217.5_Silent_p.L489L NM_001185039.1 NP_001171968.1 Q15067 ACOX1_HUMAN acyl-CoA oxidase 1, palmitoyl 489 fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process peroxisomal matrix acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1) 14 TGGCTGCACGGAGTTTATATG 0.557000 23 41 0 0 1 0 0 TRPM2 7226 broad.mit.edu 37 21 45819235 45819235 + Missense_Mutation SNP C C T rs139554968 TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr21:45819235C>T ENST00000397928.1 + 14 2564 c.2119C>T c.(2119-2121)Cgc>Tgc p.R707C TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000397932.2_Missense_Mutation_p.R707C|TRPM2_ENST00000300481.9_Missense_Mutation_p.R687C|TRPM2_ENST00000300482.5_Missense_Mutation_p.R707C NM_003307.3 NP_003298.1 O94759 TRPM2_HUMAN transient receptor potential cation channel, subfamily M, member 2 707 integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 ACTGCTCACCCGCGTGTCCGA 0.622000 33 18 0 0 1 0 0 HCRTR2 3062 broad.mit.edu 37 6 55147226 55147226 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr6:55147226G>A ENST00000370862.3 + 7 1645 c.1309G>A c.(1309-1311)Gga>Aga p.G437R NM_001526.3 NP_001517.2 O43614 OX2R_HUMAN hypocretin (orexin) receptor 2 437 feeding behavior integral to plasma membrane neuropeptide receptor activity breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 Lung NSC(77;0.107)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) AGCAGCCAATGGAGCAGGACC 0.383000 9 16 0 0 1 0 0 RSPO2 340419 broad.mit.edu 37 8 109001352 109001352 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:109001352C>T ENST00000276659.5 - 3 835 c.215G>A c.(214-216)gGa>gAa p.G72E RSPO2_ENST00000517939.1_Missense_Mutation_p.G5E|RSPO2_ENST00000517781.1_Intron|RSPO2_ENST00000378439.2_Intron NM_178565.4 NP_848660.3 Q6UXX9 RSPO2_HUMAN R-spondin 2 72 Wnt receptor signaling pathway extracellular region heparin binding EIF3E/RSPO2(6) haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 28 OV - Ovarian serous cystadenocarcinoma(57;1.55e-09) CAGGCACTCTCCATACTGGCG 0.478000 31 40 0 0 1 0 0 NLGN3 54413 broad.mit.edu 37 X 70389887 70389887 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:70389887C>T ENST00000374051.3 + 7 2749 c.2427C>T c.(2425-2427)acC>acT p.T809T NLGN3_ENST00000536169.1_Silent_p.T789T|NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000358741.3_Silent_p.T829T NM_018977.3 NP_061850.2 Q9NZ94 NLGN3_HUMAN neuroligin 3 829 neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly cell surface|endocytic vesicle|integral to plasma membrane|synapse neurexin binding|receptor activity biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 37 Renal(35;0.156) CCTATAACACCTTTGCCGCAG 0.592000 23 13 0 0 1 0 0 ASPM 259266 broad.mit.edu 37 1 197072675 197072675 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:197072675C>T ENST00000367409.4 - 18 5962 c.5706G>A c.(5704-5706)ttG>ttA p.L1902L ASPM_ENST00000367408.1_Intron|ASPM_ENST00000294732.7_Intron NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 1902 IQ 10.|IQ 11. mitosis cytoplasm|nucleus calmodulin binding breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3) 165 ACTGAATCTTCAAGGCAGCTT 0.433000 39 32 0 0 1 0 0 UNC80 285175 broad.mit.edu 37 2 210658584 210658584 + Splice_Site SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:210658584G>A ENST00000439458.1 + 7 1018 c.e7+1 UNC80_ENST00000478701.1_Splice_Site|UNC80_ENST00000272845.5_Splice_Site NM_032504.1 NP_115893.1 Q8N2C7 UNC80_HUMAN unc-80 homolog (C. elegans) integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1) 20 CACATTCCAGGTACCTGATTG 0.438000 22 15 0 0 1 0 0 LILRB2 10288 broad.mit.edu 37 19 54783921 54783921 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:54783921G>A ENST00000391748.1 - 4 207 c.80C>T c.(79-81)cCc>cTc p.P27L LILRB2_ENST00000471216.1_5'UTR|LILRB2_ENST00000434421.1_Intron|LILRB2_ENST00000314446.5_Missense_Mutation_p.P27L|LILRB2_ENST00000391749.4_Missense_Mutation_p.P27L|LILRB2_ENST00000391746.1_Missense_Mutation_p.P27L NM_001278403.1 NP_001265332.1 Q8N423 LIRB2_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 27 Ig-like C2-type 1. cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response integral to plasma membrane|membrane fraction receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 44 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GGTGGGCTTGGGAATGGTCCC 0.577000 49 74 0 0 1 0 0 SLC35E2 9906 broad.mit.edu 37 1 1663930 1663930 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:1663930G>A ENST00000246421.4 - 6 1180 c.765C>T c.(763-765)tcC>tcT p.S255S RP1-283E3.8_ENST00000598846.1_RNA|SLC35E2_ENST00000400924.1_Intron|SLC35E2_ENST00000475229.1_5'UTR|SLC35E2_ENST00000355439.2_Intron NM_182838.2 NP_878258.1 P0CK97 S35E2_HUMAN solute carrier family 35, member E2 255 integral to membrane endometrium(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) GCAGCGCCATGGACAAGGCGA 0.607000 6 11 0 0 1 0 0 MED25 81857 broad.mit.edu 37 19 50335577 50335577 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:50335577C>T ENST00000312865.6 + 13 1440 c.1387C>T c.(1387-1389)Cct>Tct p.P463S MED25_ENST00000538643.1_Missense_Mutation_p.P250S NM_030973.3 NP_112235.2 Q71SY5 MED25_HUMAN mediator complex subunit 25 463 Interaction with CREBBP.|Interaction with VP16. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|stomach(1)|urinary_tract(1) 17 all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728) OV - Ovarian serous cystadenocarcinoma(262;0.00822)|GBM - Glioblastoma multiforme(134;0.0122) CACCCTGGGCCCTTTGTTCCG 0.607000 5 9 0 0 1 0 0 NBPF1 55672 broad.mit.edu 37 1 16895700 16895700 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:16895700G>A ENST00000430580.2 - 23 3369 c.2482C>T c.(2482-2484)Ccc>Tcc p.P828S NBPF1_ENST00000432949.1_Intron|NBPF1_ENST00000287968.8_3'UTR|NBPF1_ENST00000420031.2_3'UTR NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 828 NBPF 4. cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) GACTCCTGGGGGACTTCCTCC 0.478000 24 297 0 0 1 0 0 CTNNA2 1496 broad.mit.edu 37 2 80646673 80646673 + Nonsense_Mutation SNP G G T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:80646673G>T ENST00000466387.1 + 13 1961 c.1237G>T c.(1237-1239)Gaa>Taa p.E413* CTNNA2_ENST00000541047.1_Nonsense_Mutation_p.E413*|CTNNA2_ENST00000402739.4_Nonsense_Mutation_p.E413*|CTNNA2_ENST00000540488.1_Nonsense_Mutation_p.E413*|CTNNA2_ENST00000361291.4_Nonsense_Mutation_p.E447*|CTNNA2_ENST00000496558.1_Nonsense_Mutation_p.E413*|CTNNA2_ENST00000343114.3_Nonsense_Mutation_p.E92* P26232 CTNA2_HUMAN catenin (cadherin-associated protein), alpha 2 413 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton p.E413*(1) breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 78 AAATGAAAAGGAAGTGAAAGA 0.453000 29 53 9.39395e-14 9.53377e-14 1 1 0 C8orf31 286122 broad.mit.edu 37 8 144124661 144124661 + Nonsense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:144124661G>A ENST00000395172.1 + 3 520 c.168G>A c.(166-168)tgG>tgA p.W56* C8orf31_ENST00000517653.1_3'UTR NM_173687.2 NP_775958.1 Q8N9H6 CH031_HUMAN chromosome 8 open reading frame 31 56 breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1) 10 all_cancers(97;1.89e-10)|all_epithelial(106;8.73e-09)|Lung NSC(106;0.000161)|all_lung(105;0.000447)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) AAGAGATCTGGGAGTCCACAA 0.607000 8 13 0 0 1 0 0 OR2M3 127062 broad.mit.edu 37 1 248366679 248366679 + Missense_Mutation SNP T T G TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:248366679T>G ENST00000456743.1 + 1 348 c.310T>G c.(310-312)Tat>Gat p.Y104D NM_001004689.1 NP_001004689.1 Q8NG83 OR2M3_HUMAN olfactory receptor, family 2, subfamily M, member 3 104 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 50 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) AATTTTCTTCTATACATCACT 0.478000 220 70 0 0 1 0 0 PKHD1 5314 broad.mit.edu 37 6 51524307 51524307 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr6:51524307C>T ENST00000371117.3 - 61 10892 c.10617G>A c.(10615-10617)atG>atA p.M3539I NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 3539 cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) AGAGGTTATCCATGATGTTGA 0.443000 9 31 0 0 1 0 0 MECR 51102 broad.mit.edu 37 1 29533322 29533322 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:29533322G>A ENST00000373791.3 - 4 646 c.274C>T c.(274-276)Ccc>Tcc p.P92S MECR_ENST00000489248.1_5'UTR|MECR_ENST00000263702.6_Missense_Mutation_p.P168S NM_001024732.1|NM_016011.2 NP_001019903.1|NP_057095.2 Q9BV79 MECR_HUMAN mitochondrial trans-2-enoyl-CoA reductase 168 fatty acid biosynthetic process mitochondrion trans-2-enoyl-CoA reductase (NADPH) activity|zinc ion binding NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1) 11 Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123) Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137) GCTGTGCAGGGATTGACACCC 0.602000 15 46 0 0 1 0 0 DENND5A 23258 broad.mit.edu 37 11 9225624 9225624 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:9225624C>T ENST00000328194.3 - 4 852 c.532G>A c.(532-534)Gag>Aag p.E178K DENND5A_ENST00000530044.1_Missense_Mutation_p.E178K NM_001243254.1|NM_015213.3 NP_001230183.1|NP_056028.2 Q6IQ26 DEN5A_HUMAN DENN/MADD domain containing 5A 178 breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 TCACCATCCTCCATGCTGCTC 0.522000 26 34 0 0 1 0 0 CDH10 1008 broad.mit.edu 37 5 24535389 24535389 + Splice_Site SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:24535389C>T ENST00000264463.4 - 5 1154 c.e5-1 NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) CTGATGATACCTTGAGAAAAT 0.368000 HNSCC(23;0.051) 17 36 0 0 1 0 0 CDH23 64072 broad.mit.edu 37 10 73539197 73539197 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:73539197C>T ENST00000224721.6 + 40 5381 c.5376C>T c.(5374-5376)gaC>gaT p.D1792D NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 1787 Cadherin 17. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 TGGATGGAGACCCTCTGGGTG 0.632000 6 16 0 0 1 0 0 DHX37 57647 broad.mit.edu 37 12 125435019 125435019 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:125435019G>A ENST00000308736.2 - 23 3159 c.3061C>T c.(3061-3063)Cca>Tca p.P1021S DHX37_ENST00000544745.1_Missense_Mutation_p.P808S NM_032656.3 NP_116045.2 Q8IY37 DHX37_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 37 1021 ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3) 65 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653) GTAGGGGCTGGTTCCTCCAGG 0.672000 10 44 0 0 1 0 0 ALB 213 broad.mit.edu 37 4 74279294 74279294 + Missense_Mutation SNP T T C TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr4:74279294T>C ENST00000295897.4 + 8 1090 c.1001T>C c.(1000-1002)gTt>gCt p.V334A ALB_ENST00000505649.1_3'UTR|ALB_ENST00000503124.1_Missense_Mutation_p.V184A|ALB_ENST00000509063.1_Missense_Mutation_p.V334A|ALB_ENST00000415165.2_Missense_Mutation_p.V142A|ALB_ENST00000401494.3_Missense_Mutation_p.V219A NM_000477.5 NP_000468.1 P02768 ALBU_HUMAN albumin 334 Albumin 2. bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport extracellular space|platelet alpha granule lumen|protein complex antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1) 48 Breast(15;0.00102) Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137) GCTGATTTTGTTGAAAGTAAG 0.403000 39 42 0 0 1 0 0 IL1RAPL2 26280 broad.mit.edu 37 X 104440200 104440200 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:104440200G>A ENST00000372582.1 + 3 882 c.126G>A c.(124-126)atG>atA p.M42I IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.M42I NM_017416.1 NP_059112.1 Q9NP60 IRPL2_HUMAN interleukin 1 receptor accessory protein-like 2 42 Ig-like C2-type 1. central nervous system development|innate immune response integral to membrane interleukin-1, Type II, blocking receptor activity breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 AGACATACATGGCTTTGGCAG 0.453000 59 54 0 0 1 0 0 TNS4 84951 broad.mit.edu 37 17 38640845 38640845 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:38640845C>T ENST00000254051.6 - 6 1550 c.1392G>A c.(1390-1392)agG>agA p.R464R NM_032865.5 NP_116254.4 Q8IZW8 TENS4_HUMAN tensin 4 464 SH2. apoptosis|protein localization cytoplasm|cytoskeleton|focal adhesion actin binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1) 30 Breast(137;0.000496) STAD - Stomach adenocarcinoma(5;5.91e-05) GCTCCTCCTTCCTCAGCAGCT 0.597000 21 38 0 0 1 0 0 CEP170B 283638 broad.mit.edu 37 14 105353151 105353151 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr14:105353151C>T ENST00000453495.1 + 12 2806 c.2578C>T c.(2578-2580)Cct>Tct p.P860S CEP170B_ENST00000556508.1_Missense_Mutation_p.P789S|CEP170B_ENST00000414716.3_Missense_Mutation_p.P859S|CEP170B_ENST00000418279.1_Missense_Mutation_p.P789S centrosomal protein 170B ACCCGACGGCCCTGCCCCAGC 0.667000 21 35 0 0 1 0 0 MPPED1 758 broad.mit.edu 37 22 43831035 43831035 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr22:43831035G>A ENST00000417669.1 + 3 750 c.306G>A c.(304-306)acG>acA p.T102T MPPED1_ENST00000439548.1_Intron|MPPED1_ENST00000538182.1_Silent_p.T135T|MPPED1_ENST00000414469.2_5'UTR|MPPED1_ENST00000542779.1_Silent_p.T102T|MPPED1_ENST00000443721.1_Silent_p.T102T O15442 MPPD1_HUMAN metallophosphoesterase domain containing 1 102 hydrolase activity endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1) 13 all_neural(38;0.0244)|Ovarian(80;0.0694) ACTCGAGGACGGACCCCATCC 0.632000 35 83 0 0 1 0 0 NLRC3 197358 broad.mit.edu 37 16 3606980 3606980 + RNA SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr16:3606980G>A ENST00000301749.7 - 0 2520 NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA NM_178844.2 NP_849172.2 Q7RTR2 NLRC3_HUMAN NLR family, CARD domain containing 3 I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation cytoplasm ATP binding breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GTGGTCCAATGGAGTTACCGC 0.552000 15 21 0 0 1 0 0 KBTBD6 89890 broad.mit.edu 37 13 41705882 41705882 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr13:41705882G>A ENST00000379485.1 - 1 1000 c.766C>T c.(766-768)Ccc>Tcc p.P256S KBTBD6_ENST00000499385.2_Missense_Mutation_p.P190S NM_152903.4 NP_690867.3 Q86V97 KBTB6_HUMAN kelch repeat and BTB (POZ) domain containing 6 256 protein binding NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4) 43 Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673) GCAGCACTGGGACCCCGCTCT 0.572000 26 57 0 0 1 0 0 RP3-331H24.5 0 broad.mit.edu 37 6 72113281 72113281 + RNA SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr6:72113281C>T ENST00000602823.1 - 0 267 MIR30A_ENST00000385092.1_RNA ACTGAAAGCCCATCTGTGGCT 0.453000 5 7 0 0 1 0 0 KRT28 162605 broad.mit.edu 37 17 38953442 38953442 + Missense_Mutation SNP T T C TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:38953442T>C ENST00000306658.7 - 4 847 c.782A>G c.(781-783)aAc>aGc p.N261S NM_181535.3 NP_853513.2 Q7Z3Y7 K1C28_HUMAN keratin 28 261 Coil 2.|Rod. 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) CGCTCGCATGTTGTTCAACAA 0.622000 44 62 0 0 1 0 0 MMRN1 22915 broad.mit.edu 37 4 90856006 90856006 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr4:90856006G>A ENST00000394980.1 + 7 1494 c.1175G>A c.(1174-1176)aGa>aAa p.R392K MMRN1_ENST00000264790.2_Missense_Mutation_p.R392K|MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000508372.1_Missense_Mutation_p.R134K Q13201 MMRN1_HUMAN multimerin 1 392 cell adhesion|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2) 72 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;6.96e-05) GACATAGTAAGAGAACAATTT 0.318000 32 45 0 0 1 0 0 ATP5G1 516 broad.mit.edu 37 17 46972537 46972537 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:46972537C>T ENST00000393366.2 + 4 240 c.137C>T c.(136-138)cCa>cTa p.P46L ATP5G1_ENST00000503641.1_Intron|ATP5G1_ENST00000355938.5_Missense_Mutation_p.P46L|ATP5G1_ENST00000506855.1_Missense_Mutation_p.P20L|RP11-463M16.4_ENST00000508743.1_RNA|ATP5G1_ENST00000514808.1_Missense_Mutation_p.P46L|ATP5G1_ENST00000513781.1_3'UTR NM_005175.2 NP_005166.1 P05496 AT5G1_HUMAN ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9) 46 ATP hydrolysis coupled proton transport|mitochondrial ATP synthesis coupled proton transport|respiratory electron transport chain integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o) hydrogen ion transmembrane transporter activity|lipid binding liver(1)|lung(1) 2 AGCAACTTCCCACTCCAGGTG 0.547000 31 35 0 0 1 0 0 ALB 213 broad.mit.edu 37 4 74277801 74277801 + Missense_Mutation SNP G G A rs78340021 TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr4:74277801G>A ENST00000295897.4 + 7 891 c.802G>A c.(802-804)Gaa>Aaa p.E268K ALB_ENST00000505649.1_3'UTR|ALB_ENST00000503124.1_Missense_Mutation_p.E118K|ALB_ENST00000509063.1_Missense_Mutation_p.E268K|ALB_ENST00000415165.2_Missense_Mutation_p.E76K|ALB_ENST00000401494.3_Missense_Mutation_p.E153K NM_000477.5 NP_000468.1 P02768 ALBU_HUMAN albumin 268 Albumin 2. bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport extracellular space|platelet alpha granule lumen|protein complex antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding p.V265fs*8(2) NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1) 48 Breast(15;0.00102) Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137) AGTCCACACGGAATGCTGCCA 0.453000 36 45 0 0 1 0 0 GRAMD1A 57655 broad.mit.edu 37 19 35512503 35512503 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:35512503C>T ENST00000599564.1 + 15 1905 c.1834C>T c.(1834-1836)Cat>Tat p.H612Y CTD-2527I21.14_ENST00000605640.1_RNA|GRAMD1A_ENST00000317991.5_Missense_Mutation_p.H525Y|GRAMD1A_ENST00000411896.2_Missense_Mutation_p.H518Y|GRAMD1A_ENST00000504615.2_Missense_Mutation_p.H291Y Q96CP6 GRM1A_HUMAN GRAM domain containing 1A 525 integral to membrane NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 19 all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) CTATTTCCACCATCTGGGTAG 0.587000 23 52 0 0 1 0 0 JAG2 3714 broad.mit.edu 37 14 105612755 105612755 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr14:105612755G>A ENST00000331782.3 - 22 3079 c.2676C>T c.(2674-2676)tgC>tgT p.C892C JAG2_ENST00000347004.2_Silent_p.C854C NM_002226.4 NP_002217.3 Q9Y219 JAG2_HUMAN jagged 2 892 VWFC. auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection integral to plasma membrane calcium ion binding|growth factor activity|Notch binding breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5) 22 all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155) OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272) Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208) CCAGGCAGCGGCAGCTGTTGC 0.677000 32 63 0 0 1 0 0 IVNS1ABP 10625 broad.mit.edu 37 1 185278582 185278582 + Missense_Mutation SNP A A G TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:185278582A>G ENST00000367498.3 - 3 666 c.44T>C c.(43-45)aTt>aCt p.I15T IVNS1ABP_ENST00000459929.1_5'UTR|IVNS1ABP_ENST00000392007.3_5'UTR|IVNS1ABP_ENST00000367497.1_Missense_Mutation_p.I15T NM_006469.4 NP_006460.2 Q9Y6Y0 NS1BP_HUMAN influenza virus NS1A binding protein 15 interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2) 29 AGAAGACTCAATAAAATTTTC 0.308000 24 35 0 0 1 0 0 OPHN1 4983 broad.mit.edu 37 X 67283999 67283999 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:67283999G>A ENST00000355520.5 - 21 2496 c.1855C>T c.(1855-1857)Ccg>Tcg p.P619S OPHN1_ENST00000540071.1_Intron|OPHN1_ENST00000484842.1_5'UTR NM_002547.2 NP_002538.1 O60890 OPHN1_HUMAN oligophrenin 1 619 axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension axon|cell junction|cytosol|dendritic spine|synapse cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2) 31 GTACCATTCGGTGTTTGATGT 0.423000 59 88 0 0 1 0 0 SEMA4G 57715 broad.mit.edu 37 10 102739907 102739907 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:102739907G>A ENST00000210633.3 + 10 1235 c.1157G>A c.(1156-1158)gGc>gAc p.G386D SEMA4G_ENST00000370250.4_Missense_Mutation_p.G386D|SEMA4G_ENST00000517724.1_Missense_Mutation_p.G386D|MRPL43_ENST00000370242.4_Intron|MRPL43_ENST00000318325.2_Intron|MRPL43_ENST00000370241.3_Intron Q9NTN9 SEM4G_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G 386 Sema. cell differentiation|nervous system development integral to membrane receptor activity breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 Colorectal(252;0.234) Epithelial(162;3.71e-09)|all cancers(201;2.1e-07) CGCAGCCAAGGCTACAATTCA 0.602000 25 29 0 0 1 0 0 PLCE1 51196 broad.mit.edu 37 10 96030264 96030264 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:96030264C>T ENST00000260766.3 + 18 5045 c.4411C>T c.(4411-4413)Cgc>Tgc p.R1471C PLCE1_ENST00000371375.1_Missense_Mutation_p.R1163C|PLCE1_ENST00000371385.3_Missense_Mutation_p.R1163C|PLCE1_ENST00000371380.2_Missense_Mutation_p.R1471C NM_016341.3 NP_057425.3 Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 1471 PI-PLC X-box. activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.0458) AGCCATTGATCGCAGTGCCTT 0.448000 32 66 0 0 1 0 0 PKHD1 5314 broad.mit.edu 37 6 51751940 51751940 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr6:51751940G>A ENST00000371117.3 - 44 7375 c.7100C>T c.(7099-7101)tCt>tTt p.S2367F PKHD1_ENST00000340994.4_Missense_Mutation_p.S2367F NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 2367 cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) CCTGGTACAAGAATGTGCAAT 0.413000 11 40 0 0 1 0 0 HDAC2 3066 broad.mit.edu 37 6 114267236 114267236 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr6:114267236G>A ENST00000519065.1 - 9 1294 c.918C>T c.(916-918)atC>atT p.I306I HDAC2_ENST00000398283.2_Silent_p.I400I|HDAC2_ENST00000519108.1_Silent_p.I276I|HDAC2_ENST00000368632.2_Silent_p.I276I Q92769 HDAC2_HUMAN histone deacetylase 2 306 Histone deacetylase. blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2) 27 all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24) all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832) Vorinostat(DB02546) CAACATTACGGATTGTGTAGC 0.378000 51 38 0 0 1 0 0 DYNC1I1 1780 broad.mit.edu 37 7 95606909 95606909 + Silent SNP G G A rs150145925 TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:95606909G>A ENST00000324972.6 + 7 820 c.627G>A c.(625-627)aaG>aaA p.K209K DYNC1I1_ENST00000437599.1_Silent_p.K189K|DYNC1I1_ENST00000447467.2_Silent_p.K192K|DYNC1I1_ENST00000457059.1_Silent_p.K192K|DYNC1I1_ENST00000537881.1_Silent_p.K172K|DYNC1I1_ENST00000359388.4_Silent_p.K172K NM_004411.4 NP_004402.1 O14576 DC1I1_HUMAN dynein, cytoplasmic 1, intermediate chain 1 209 vesicle transport along microtubule condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle microtubule binding|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 54 all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191) STAD - Stomach adenocarcinoma(171;0.0957) AGGAAGTGAAGGAAGGTATGA 0.328000 21 24 0 0 1 0 0 SYTL4 94121 broad.mit.edu 37 X 99956598 99956598 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:99956598C>T ENST00000372981.1 - 3 368 c.182G>A c.(181-183)cGg>cAg p.R61Q SYTL4_ENST00000372989.1_Missense_Mutation_p.R61Q|SYTL4_ENST00000276141.6_Missense_Mutation_p.R61Q|SYTL4_ENST00000455616.1_Missense_Mutation_p.R61Q|SYTL4_ENST00000263033.5_Missense_Mutation_p.R61Q|SYTL4_ENST00000454200.2_Missense_Mutation_p.R61Q Q96C24 SYTL4_HUMAN synaptotagmin-like 4 61 RabBD. exocytosis|intracellular protein transport extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2) 27 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GGCACAGGTCCGATCACTGTA 0.537000 47 70 0 0 1 0 0 AMMECR1 9949 broad.mit.edu 37 X 109560968 109560968 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:109560968G>A ENST00000262844.5 - 1 499 c.332C>T c.(331-333)tCg>tTg p.S111L AMMECR1_ENST00000496695.1_5'UTR|AMMECR1_ENST00000372057.1_5'UTR|AMMECR1_ENST00000372059.2_Missense_Mutation_p.S111L NM_015365.2 NP_056180.1 Q9Y4X0 AMER1_HUMAN Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1 111 Ser-rich. large_intestine(1)|lung(4)|ovary(1)|stomach(1) 7 GGCGGCGGACGATGAGGAGGG 0.657000 9 8 0 0 1 0 0 ZNF721 170960 broad.mit.edu 37 4 436842 436842 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr4:436842G>A ENST00000338977.5 - 2 1426 c.1378C>T c.(1378-1380)Ccc>Tcc p.P460S ZNF721_ENST00000506646.1_Intron|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000511833.2_Missense_Mutation_p.P472S|ZNF721_ENST00000507078.1_Intron zinc finger protein 721 endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1) 33 CATTTGTAGGGTTTCTTTCCA 0.368000 7 19 0 0 1 0 0 CTBP2 1488 broad.mit.edu 37 10 126681372 126681372 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:126681372G>A ENST00000309035.6 - 8 2799 c.2669C>T c.(2668-2670)cCa>cTa p.P890L CTBP2_ENST00000334808.6_Missense_Mutation_p.P418L|CTBP2_ENST00000494626.2_Missense_Mutation_p.P350L|CTBP2_ENST00000531469.1_Missense_Mutation_p.P350L|CTBP2_ENST00000411419.2_Missense_Mutation_p.P350L|CTBP2_ENST00000337195.5_Missense_Mutation_p.P350L NM_022802.2 NP_073713.2 P56545 CTBP2_HUMAN C-terminal binding protein 2 350 negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation cell junction|synapse|transcriptional repressor complex NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173) Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147) TAAGCTTTCTGGGATGCGACC 0.383000 OREG0020609 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 12 0 0 1 0 0 GPR39 2863 broad.mit.edu 37 2 133403028 133403028 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:133403028G>A ENST00000329321.3 + 2 1680 c.1211G>A c.(1210-1212)aGa>aAa p.R404K LYPD1_ENST00000397463.2_3'UTR|GPR39_ENST00000470071.1_3'UTR NM_001508.2 NP_001499.1 O43194 GPR39_HUMAN G protein-coupled receptor 39 404 integral to plasma membrane G-protein coupled receptor activity|metal ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TCTGCAAGGAGAACTGAGAAG 0.602000 18 53 0 0 1 0 0 SCN7A 6332 broad.mit.edu 37 2 167301368 167301368 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:167301368G>A ENST00000409855.1 - 12 1656 c.1530C>T c.(1528-1530)ttC>ttT p.F510F NM_002976.3 NP_002967.2 Q01118 SCN7A_HUMAN sodium channel, voltage-gated, type VII, alpha subunit 510 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 ATATGATAAGGAAAAGATCAG 0.333000 7 13 0 0 1 0 0 MICALCL 84953 broad.mit.edu 37 11 12315195 12315195 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:12315195G>A ENST00000256186.2 + 3 508 c.217G>A c.(217-219)Gga>Aga p.G73R NM_032867.2 NP_116256.2 Q6ZW33 MICLK_HUMAN MICAL C-terminal like 73 Interaction with MAPK1 (By similarity). cell differentiation|multicellular organismal development|spermatogenesis cytoplasm mitogen-activated protein kinase binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 30 Epithelial(150;0.00177) CGTAGCCCAAGGAGCACCCAG 0.587000 56 110 0 0 1 0 0 OR5P3 120066 broad.mit.edu 37 11 7847156 7847156 + Missense_Mutation SNP G G A rs117218570 by1000genomes TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:7847156G>A ENST00000328375.1 - 1 363 c.364C>T c.(364-366)Cgc>Tgc p.R122C RP11-35J10.5_ENST00000527565.1_lincRNA NM_153445.1 NP_703146.1 Q8WZ94 OR5P3_HUMAN olfactory receptor, family 5, subfamily P, member 3 122 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1) 15 Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) GCCACATAGCGATCATAGGCC 0.557000 41 64 0 0 1 0 0 LRIT2 340745 broad.mit.edu 37 10 85984392 85984392 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:85984392G>A ENST00000372113.4 - 2 594 c.589C>T c.(589-591)Ctg>Ttg p.L197L LRIT2_ENST00000538192.1_Silent_p.L197L NM_001017924.2 NP_001017924.1 A6NDA9 LRIT2_HUMAN leucine-rich repeat, immunoglobulin-like and transmembrane domains 2 197 integral to membrane central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1) 32 TTGTCATGCAGGGCCACCACC 0.547000 21 37 0 0 1 0 0 PKD1L1 168507 broad.mit.edu 37 7 47898282 47898282 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:47898282C>T ENST00000289672.2 - 27 4401 c.4351G>A c.(4351-4353)Gat>Aat p.D1451N NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 1451 REJ. cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 AACAATAAATCTGAGATGACT 0.388000 34 75 0 0 1 0 0 PAK7 57144 broad.mit.edu 37 20 9560857 9560857 + Nonsense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr20:9560857G>A ENST00000378429.3 - 5 1471 c.925C>T c.(925-927)Caa>Taa p.Q309* PAK7_ENST00000378423.1_Nonsense_Mutation_p.Q309*|PAK7_ENST00000353224.5_Nonsense_Mutation_p.Q309* NM_020341.3 NP_065074.1 Q9P286 PAK7_HUMAN p21 protein (Cdc42/Rac)-activated kinase 7 309 Linker. ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3) 81 COAD - Colon adenocarcinoma(9;0.194) GAGTGTCCTTGGGGATGGGTT 0.552000 58 130 0 0 1 0 0 LRP2 4036 broad.mit.edu 37 2 170150732 170150732 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:170150732C>T ENST00000263816.3 - 6 863 c.578G>A c.(577-579)gGa>gAa p.G193E LRP2_ENST00000443831.1_Missense_Mutation_p.G193E NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 193 LDL-receptor class A 5. 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) GATACACTCTCCATTGCCACA 0.433000 45 63 0 0 1 0 0 SMARCA2 6595 broad.mit.edu 37 9 2039700 2039700 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr9:2039700C>T ENST00000382203.1 + 4 799 c.590C>T c.(589-591)cCc>cTc p.P197L SMARCA2_ENST00000349721.2_Missense_Mutation_p.P197L|SMARCA2_ENST00000357248.2_Missense_Mutation_p.P197L|SMARCA2_ENST00000491574.1_3'UTR|SMARCA2_ENST00000382194.1_Missense_Mutation_p.P197L P51531 SMCA2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 197 chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) CGAGGCCAGCCCCTCCCCGAA 0.577000 42 8 0 0 1 0 0 MTUS2 23281 broad.mit.edu 37 13 29599806 29599806 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr13:29599806G>A ENST00000431530.3 + 1 1059 c.1001G>A c.(1000-1002)gGa>gAa p.G334E NM_001033602.2 NP_001028774.2 Q5JR59 MTUS2_HUMAN microtubule associated tumor suppressor candidate 2 324 cytoplasm|microtubule microtubule binding|protein homodimerization activity NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 GAACAGGAGGGAAAGGCAGCC 0.532000 19 31 0 0 1 0 0 ZNF451 26036 broad.mit.edu 37 6 57012688 57012688 + Missense_Mutation SNP C C T rs143895065 by1000genomes TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr6:57012688C>T ENST00000370706.4 + 10 2049 c.1805C>T c.(1804-1806)cCg>cTg p.P602L RP11-203B9.4_ENST00000585792.1_RNA|ZNF451_ENST00000357489.3_Missense_Mutation_p.P602L|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|ZNF451_ENST00000491832.2_Missense_Mutation_p.P602L|RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000416069.2_RNA NM_001031623.2 NP_001026794.1 Q9Y4E5 ZN451_HUMAN zinc finger protein 451 602 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 32 Lung NSC(77;0.145) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) AATAGTTCTCCGAGGGGTAAA 0.408000 50 55 0 0 1 0 0 TDRD6 221400 broad.mit.edu 37 6 46658596 46658596 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr6:46658596G>A ENST00000544460.1 + 1 2985 c.2731G>A c.(2731-2733)Gat>Aat p.D911N TDRD6_ENST00000316081.6_Missense_Mutation_p.D911N NM_001168359.1 NP_001161831.1 O60522 TDRD6_HUMAN tudor domain containing 6 911 cell differentiation|multicellular organismal development|spermatogenesis chromatoid body nucleic acid binding NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 Lung(136;0.192) TGAATTTATAGATAATGCATG 0.333000 40 34 0 0 1 0 0 SERPINA12 145264 broad.mit.edu 37 14 94962942 94962942 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr14:94962942C>T ENST00000341228.2 - 4 1468 c.673G>A c.(673-675)Gag>Aag p.E225K SERPINA12_ENST00000556881.1_Missense_Mutation_p.E225K NM_173850.2 NP_776249.1 Q8IW75 SPA12_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12 225 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 COAD - Colon adenocarcinoma(157;0.235) AAATCTTCCTCTTTAGTTACA 0.403000 27 51 0 0 1 0 0 ARHGAP4 393 broad.mit.edu 37 X 153178233 153178233 + Missense_Mutation SNP A A T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:153178233A>T ENST00000370028.3 - 13 1640 c.1583T>A c.(1582-1584)tTc>tAc p.F528Y ARHGAP4_ENST00000537206.1_Missense_Mutation_p.F465Y|ARHGAP4_ENST00000393721.1_Missense_Mutation_p.F310Y|ARHGAP4_ENST00000350060.5_Missense_Mutation_p.F488Y|ARHGAP4_ENST00000370016.1_Missense_Mutation_p.F467Y NM_001164741.1 NP_001158213.1 P98171 RHG04_HUMAN Rho GTPase activating protein 4 488 Rho-GAP. apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction cytosol|focal adhesion|nucleus Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 14 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GCTCTTCTGGAATTTTCTCTG 0.592000 63 88 0 0 1 0 0 NOS3 4846 broad.mit.edu 37 7 150704269 150704269 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:150704269G>A ENST00000297494.3 + 17 2374 c.2017G>A c.(2017-2019)Gaa>Aaa p.E673K NOS3_ENST00000461406.1_Missense_Mutation_p.E467K NM_000603.4 NP_000594.2 P29474 NOS3_HUMAN nitric oxide synthase 3 (endothelial cell) 673 Flavodoxin-like. anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia caveola|cytoskeleton|cytosol|Golgi membrane actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 all_neural(206;0.219) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360) ACGGCTGGAGGAACTGGGCGG 0.701000 37 82 0 0 1 0 0 DAB2 1601 broad.mit.edu 37 5 39376875 39376875 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:39376875C>T ENST00000320816.6 - 12 2481 c.2014G>A c.(2014-2016)Gag>Aag p.E672K DAB2_ENST00000339788.6_Missense_Mutation_p.E454K|DAB2_ENST00000545653.1_Missense_Mutation_p.E651K|DAB2_ENST00000509337.1_Missense_Mutation_p.E651K NM_001343.3 NP_001334.2 P98082 DAB2_HUMAN Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila) 672 Required for interaction with MYO6 (By similarity). cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway clathrin coated vesicle membrane|coated pit protein C-terminus binding autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 47 all_lung(31;0.000197) Epithelial(62;0.137) GAAGTCTGCTCTCCCTTCCGC 0.488000 OREG0016586 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 20 26 0 0 1 0 0 HOXB13 10481 broad.mit.edu 37 17 46804277 46804277 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:46804277C>T ENST00000290295.7 - 2 1314 c.730G>A c.(730-732)Gac>Aac p.D244N NM_006361.5 NP_006352.2 Q92826 HXB13_HUMAN homeobox B13 244 angiogenesis|epidermis development|response to wounding sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|kidney(2)|lung(6)|prostate(1) 11 CGCCTCTTGTCCTTGGTGATG 0.587000 41 78 0 0 1 0 0 KIAA1549L 25758 broad.mit.edu 37 11 33564819 33564819 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:33564819G>A ENST00000321505.4 + 1 999 c.819G>A c.(817-819)ggG>ggA p.G273G KIAA1549L_ENST00000265654.5_Silent_p.G273G|KIAA1549L_ENST00000389726.3_Silent_p.G273G KIAA1549-like CCATTTTAGGGAAGAATGAAG 0.438000 OREG0020868 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 46 70 0 0 1 0 0 SPNS2 124976 broad.mit.edu 37 17 4439593 4439593 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:4439593C>T ENST00000329078.3 + 11 1689 c.1479C>T c.(1477-1479)tcC>tcT p.S493S NM_001124758.1 NP_001118230.1 Q8IVW8 SPNS2_HUMAN spinster homolog 2 (Drosophila) 493 lipid transport|transmembrane transport integral to membrane large_intestine(3)|lung(1)|prostate(1)|skin(1) 6 CTAAGGACTCCCCGCTCTGGG 0.642000 20 50 0 0 1 0 0 PPP1R3A 5506 broad.mit.edu 37 7 113558353 113558353 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:113558353C>T ENST00000284601.3 - 1 767 c.699G>A c.(697-699)aaG>aaA p.K233K NM_002711.3 NP_002702.2 Q16821 PPR3A_HUMAN protein phosphatase 1, regulatory subunit 3A 233 glycogen metabolic process integral to membrane p.K233N(1) 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 CTTGTTCTTTCTTTTGACAAA 0.338000 49 100 0 0 1 0 0 ACRBP 84519 broad.mit.edu 37 12 6752731 6752731 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:6752731C>T ENST00000229243.2 - 6 1144 c.1051G>A c.(1051-1053)Gag>Aag p.E351K ACRBP_ENST00000542357.1_5'UTR|ACRBP_ENST00000414226.2_Missense_Mutation_p.E318K NM_032489.2 NP_115878.2 Q8NEB7 ACRBP_HUMAN acrosin binding protein 351 acrosomal vesicle|extracellular region NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1) 17 AGGATCTCCTCCTCCATGTAC 0.557000 37 58 0 0 1 0 0 MYH15 22989 broad.mit.edu 37 3 108195336 108195336 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:108195336C>T ENST00000273353.3 - 13 1257 c.1201G>A c.(1201-1203)Ggc>Agc p.G401S NM_014981.1 NP_055796.1 Q9Y2K3 MYH15_HUMAN myosin, heavy chain 15 401 Myosin head-like. myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 105 GAGTTAATGCCCATGAGGAAA 0.398000 15 20 0 0 1 0 0 RUNX1T1 862 broad.mit.edu 37 8 93017469 93017469 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:93017469C>T ENST00000523629.1 - 6 1069 c.615G>A c.(613-615)caG>caA p.Q205Q RUNX1T1_ENST00000360348.2_Silent_p.Q168Q|RUNX1T1_ENST00000520724.1_Silent_p.Q168Q|RUNX1T1_ENST00000396218.1_Silent_p.Q178Q|RUNX1T1_ENST00000265814.3_Silent_p.Q205Q|RUNX1T1_ENST00000518844.1_Silent_p.Q178Q|RUNX1T1_ENST00000521553.1_Silent_p.Q168Q|RUNX1T1_ENST00000422361.2_Silent_p.Q168Q|RUNX1T1_ENST00000436581.2_Silent_p.Q216Q 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) 205 TAFH. 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) GGGCAGGGTTCTGTTTGGCCA 0.562000 36 36 0 0 1 0 0 EHHADH 1962 broad.mit.edu 37 3 184910063 184910063 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:184910063G>A ENST00000231887.3 - 7 2198 c.2123C>T c.(2122-2124)cCc>cTc p.P708L EHHADH_ENST00000456310.1_Missense_Mutation_p.P612L NM_001166415.1|NM_001966.3 NP_001159887.1|NP_001957.2 Q08426 ECHP_HUMAN enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase 708 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) TTCTTTCAGGGGAGGGTTTCC 0.453000 30 63 0 0 1 0 0 IRF2BP1 26145 broad.mit.edu 37 19 46387762 46387762 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:46387762G>A ENST00000302165.3 - 1 1614 c.1271C>T c.(1270-1272)gCc>gTc p.A424V NM_015649.1 NP_056464.1 Q8IU81 I2BP1_HUMAN interferon regulatory factor 2 binding protein 1 424 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus cervix(1)|kidney(1)|lung(2) 4 all_neural(266;0.113)|Ovarian(192;0.127) OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231) CTTCAGGGCGGCAATGGGCGA 0.721000 17 22 0 0 1 0 0 ABLIM1 3983 broad.mit.edu 37 10 116207689 116207689 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:116207689G>A ENST00000369252.4 - 15 1806 c.1505C>T c.(1504-1506)cCa>cTa p.P502L ABLIM1_ENST00000369266.3_Missense_Mutation_p.P239L|ABLIM1_ENST00000392952.3_Missense_Mutation_p.P239L|ABLIM1_ENST00000277895.5_Missense_Mutation_p.P562L|ABLIM1_ENST00000369253.2_Missense_Mutation_p.P185L|ABLIM1_ENST00000533213.2_Missense_Mutation_p.P502L NM_001003407.1|NM_001003408.1 NP_001003407.1|NP_001003408.1 O14639 ABLM1_HUMAN actin binding LIM protein 1 562 axon guidance|cytoskeleton organization|organ morphogenesis|visual perception actin cytoskeleton|cytoplasm actin binding|zinc ion binding breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 30 Colorectal(252;0.0373)|Breast(234;0.231) Epithelial(162;0.0132)|all cancers(201;0.0383) CTCAATCTTTGGTGTCTCGCT 0.547000 30 50 0 0 1 0 0 KIAA0430 9665 broad.mit.edu 37 16 15715622 15715622 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr16:15715622G>A ENST00000396368.3 - 12 2813 c.2607C>T c.(2605-2607)acC>acT p.T869T KIAA0430_ENST00000551742.1_Silent_p.T869T|KIAA0430_ENST00000602337.1_Silent_p.T866T|KIAA0430_ENST00000540441.2_Silent_p.T704T|KIAA0430_ENST00000548025.1_Silent_p.T866T|KIAA0430_ENST00000344181.3_Silent_p.T538T NM_001184998.1|NM_001184999.1|NM_014647.3 NP_001171927.1|NP_001171928.1|NP_055462.2 Q9Y4F3 LKAP_HUMAN KIAA0430 868 RRM. peroxisome nucleotide binding|RNA binding breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1) 40 TGGCAGCCCCGGTGGCAAGTG 0.408000 27 32 0 0 1 0 0 CHD7 55636 broad.mit.edu 37 8 61741254 61741254 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:61741254C>T ENST00000423902.2 + 14 3890 c.3411C>T c.(3409-3411)ctC>ctT p.L1137L CHD7_ENST00000524602.1_Intron NM_017780.3 NP_060250.2 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 1137 Helicase ATP-binding. central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3) 123 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) GAACCCCACTCCAGAACACTG 0.423000 9 12 0 0 1 0 0 HRNR 388697 broad.mit.edu 37 1 152191937 152191937 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:152191937G>A ENST00000368801.2 - 3 2243 c.2168C>T c.(2167-2169)tCc>tTc p.S723F FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 723 keratinization calcium ion binding|protein binding autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GTAGCCGGAGGAGTGACTTGA 0.542000 87 91 0 0 1 0 0 SCAND1 51282 broad.mit.edu 37 20 34542150 34542150 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr20:34542150C>T ENST00000373991.3 - 3 1127 c.57G>A c.(55-57)ccG>ccA p.P19P SCAND1_ENST00000305978.2_Silent_p.P19P P57086 SCND1_HUMAN SCAN domain containing 1 19 viral reproduction nucleus identical protein binding|sequence-specific DNA binding transcription factor activity Breast(12;0.00631)|all_lung(11;0.0233) CCAGTTTCTCCGGTGGCACCG 0.662000 8 33 0 0 1 0 0 LAMA4 3910 broad.mit.edu 37 6 112440463 112440463 + Nonsense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr6:112440463G>A ENST00000230538.7 - 34 5114 c.4717C>T c.(4717-4719)Cga>Tga p.R1573* LAMA4_ENST00000389463.4_Nonsense_Mutation_p.R1566*|LAMA4_ENST00000424408.2_Nonsense_Mutation_p.R1566*|LAMA4_ENST00000522006.1_Nonsense_Mutation_p.R1566* NM_001105206.2 NP_001098676.2 Q16363 LAMA4_HUMAN laminin, alpha 4 1573 Laminin G-like 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) TCTAGGACTCGGAGACCATCA 0.453000 31 23 0 0 1 0 0 SBF1 6305 broad.mit.edu 37 22 50899028 50899028 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr22:50899028G>A ENST00000380817.2 - 24 3264 c.3081C>T c.(3079-3081)acC>acT p.T1027T SBF1_ENST00000348911.6_Silent_p.T1028T|SBF1_ENST00000390679.3_Silent_p.T1027T NM_002972.2 NP_002963.2 O95248 MTMR5_HUMAN SET binding factor 1 1027 protein dephosphorylation integral to membrane|nucleus protein tyrosine/serine/threonine phosphatase activity breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 43 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247) CAGAGCCCAAGGTGAACGCAA 0.647000 56 102 0 0 1 0 0 CMTM5 116173 broad.mit.edu 37 14 23846500 23846500 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr14:23846500G>A ENST00000359320.3 + 1 484 c.40G>A c.(40-42)Gag>Aag p.E14K CMTM5_ENST00000555731.1_Missense_Mutation_p.E14K|CMTM5_ENST00000382809.2_Missense_Mutation_p.E14K|CMTM5_ENST00000339180.4_Missense_Mutation_p.E14K|CMTM5_ENST00000342473.4_Missense_Mutation_p.E14K|CMTM5_ENST00000397227.3_Missense_Mutation_p.E14K NM_138460.2 NP_612469.1 Q96DZ9 CKLF5_HUMAN CKLF-like MARVEL transmembrane domain containing 5 14 chemotaxis extracellular space|integral to membrane cytokine activity endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1) 8 all_cancers(95;2e-05) GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382) GCACCCTGAGGAGGGGGTAGT 0.607000 31 46 0 0 1 0 0 NCOR2 9612 broad.mit.edu 37 12 124817682 124817682 + Missense_Mutation SNP T T C TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:124817682T>C ENST00000356219.3 - 43 6925 c.6770A>G c.(6769-6771)gAg>gGg p.E2257G NCOR2_ENST00000404621.1_Missense_Mutation_p.E2240G|NCOR2_ENST00000429285.2_Missense_Mutation_p.E2240G|NCOR2_ENST00000405201.1_Missense_Mutation_p.E2250G|NCOR2_ENST00000404121.2_Missense_Mutation_p.E1811G|NCOR2_ENST00000397355.1_Missense_Mutation_p.E2241G NM_006312.5 NP_006303.4 Q9Y618 NCOR2_HUMAN nuclear receptor corepressor 2 2261 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) GTACCTGGGCTCCGTCTGTTC 0.642000 16 61 0 0 1 0 0 BMP3 651 broad.mit.edu 37 4 81967227 81967227 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr4:81967227G>A ENST00000282701.2 + 2 972 c.652G>A c.(652-654)Gga>Aga p.G218R NM_001201.2 NP_001192.2 P12645 BMP3_HUMAN bone morphogenetic protein 3 218 cartilage development|cell differentiation|cell-cell signaling|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1) 29 GTTCCTCATAGGATTTAACAT 0.433000 71 52 0 0 1 0 0 ATRX 546 broad.mit.edu 37 X 76938406 76938406 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:76938406C>T ENST00000373344.5 - 9 2556 c.2342G>A c.(2341-2343)cGa>cAa p.R781Q ATRX_ENST00000395603.3_Missense_Mutation_p.R743Q|ATRX_ENST00000480283.1_5'UTR NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 781 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) AGAACTTTTTCGTTTCCTTTT 0.338000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 124 123 0 0 1 0 0 C6orf25 80739 broad.mit.edu 37 6 31692569 31692569 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr6:31692569G>A ENST00000480039.1 + 5 609 c.569G>A c.(568-570)aGg>aAg p.R190K C6orf25_ENST00000375810.4_Silent_p.E196E|C6orf25_ENST00000375805.2_Missense_Mutation_p.R166K|C6orf25_ENST00000375809.3_Silent_p.E196E O95866 G6B_HUMAN chromosome 6 open reading frame 25 190 endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane heparin binding|receptor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3) 9 GAGCCCCAGAGGCCAGTAAAG 0.572000 3 25 0 0 1 0 0 SLC37A1 54020 broad.mit.edu 37 21 43979139 43979139 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr21:43979139C>T ENST00000352133.2 + 11 1903 c.921C>T c.(919-921)ctC>ctT p.L307L SLC37A1_ENST00000398341.3_Silent_p.L307L P57057 GLPT_HUMAN solute carrier family 37 (glucose-6-phosphate transporter), member 1 307 carbohydrate transport|transmembrane transport integral to membrane breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3) 15 TCGTCATTCTCCCCGGGGACG 0.577000 23 9 0 0 1 0 0 MICALCL 84953 broad.mit.edu 37 11 12315196 12315196 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:12315196G>A ENST00000256186.2 + 3 509 c.218G>A c.(217-219)gGa>gAa p.G73E NM_032867.2 NP_116256.2 Q6ZW33 MICLK_HUMAN MICAL C-terminal like 73 Interaction with MAPK1 (By similarity). cell differentiation|multicellular organismal development|spermatogenesis cytoplasm mitogen-activated protein kinase binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 30 Epithelial(150;0.00177) GTAGCCCAAGGAGCACCCAGG 0.582000 57 111 0 0 1 0 0 DOCK3 1795 broad.mit.edu 37 3 51197996 51197996 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:51197996C>T ENST00000266037.9 + 12 923 c.900C>T c.(898-900)ctC>ctT p.L300L NM_004947.4 NP_004938.1 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 300 cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1) 45 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) GCCGGATGCTCCTGAACGACT 0.517000 10 10 0 0 1 0 0 DCAF12L1 139170 broad.mit.edu 37 X 125685766 125685766 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:125685766C>T ENST00000371126.1 - 1 1068 c.826G>A c.(826-828)Gaa>Aaa p.E276K NM_178470.4 NP_848565.2 Q5VU92 DC121_HUMAN DDB1 and CUL4 associated factor 12-like 1 276 breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 GCTCCCAGTTCCTGGTTCTTG 0.637000 39 51 0 0 1 0 0 DCHS1 8642 broad.mit.edu 37 11 6653331 6653331 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:6653331C>T ENST00000299441.3 - 6 3823 c.3412G>A c.(3412-3414)Gga>Aga p.G1138R RP11-732A19.6_ENST00000526633.1_RNA NM_003737.2 NP_003728.1 Q96JQ0 PCD16_HUMAN dachsous cadherin-related 1 1138 Cadherin 11. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GTCAGACGTCCATTGGGTCCT 0.607000 9 15 0 0 1 0 0 UNC13C 440279 broad.mit.edu 37 15 54804026 54804026 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr15:54804026G>A ENST00000545554.1 + 23 5455 c.5455G>A c.(5455-5457)Gag>Aag p.E1819K UNC13C_ENST00000260323.11_Missense_Mutation_p.E1819K|UNC13C_ENST00000537900.1_Missense_Mutation_p.E1817K Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 1819 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) GGGAGGGAAGGAGGTGGGTAT 0.348000 6 5 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158619695 158619695 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:158619695C>T ENST00000368148.3 - 25 3700 c.3520G>A c.(3520-3522)Gaa>Aaa p.E1174K SPTA1_ENST00000368147.3_Missense_Mutation_p.E1174K NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1174 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) TGCCGCTGTTCATCTGCAAGC 0.453000 9 31 0 0 1 0 0 C2orf71 388939 broad.mit.edu 37 2 29295426 29295426 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:29295426C>T ENST00000331664.5 - 1 1701 c.1702G>A c.(1702-1704)Gag>Aag p.E568K NM_001029883.2 NP_001025054.1 A6NGG8 CB071_HUMAN chromosome 2 open reading frame 71 568 response to stimulus|visual perception photoreceptor outer segment NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1) 60 CTCCCCTCCTCCTCCTCAGAC 0.592000 21 40 0 0 1 0 0 FNIP1 96459 broad.mit.edu 37 5 131080314 131080314 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:131080314C>T ENST00000514667.1 - 2 223 c.162G>A c.(160-162)ggG>ggA p.G54G FNIP1_ENST00000510461.1_Silent_p.G54G|FNIP1_ENST00000307968.7_Silent_p.G54G|FNIP1_ENST00000307954.8_Silent_p.G54G|FNIP1_ENST00000511848.1_Silent_p.G54G folliculin interacting protein 1 NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0665) AAACATTTCTCCCTCGTCTTT 0.363000 21 37 0 0 1 0 0 DNM1P34 729809 broad.mit.edu 37 15 75594981 75594981 + RNA SNP C C A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr15:75594981C>A ENST00000567292.1 - 0 325 GAACCATTCTCCTCGGCCTTG 0.617000 8 9 5.4927e-09 5.53578e-09 1 1 0 HGFAC 3083 broad.mit.edu 37 4 3444616 3444616 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr4:3444616C>T ENST00000382774.3 + 2 390 c.275C>T c.(274-276)tCg>tTg p.S92L HGFAC_ENST00000511533.1_Missense_Mutation_p.S92L NM_001528.2 NP_001519.1 Q04756 HGFA_HUMAN HGF activator 92 proteolysis extracellular space protein binding|serine-type endopeptidase activity p.S92*(1) central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 22 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) GCAGTTCCCTCGAGCAGTAGC 0.677000 14 23 0 0 1 0 0 DDX6 1656 broad.mit.edu 37 11 118638971 118638971 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:118638971G>A ENST00000264018.4 - 5 764 c.459C>T c.(457-459)ccC>ccT p.P153P DDX6_ENST00000534980.1_Silent_p.P153P|DDX6_ENST00000526070.2_Silent_p.P153P NM_004397.4 NP_004388.2 P26196 DDX6_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 6 153 Helicase ATP-binding. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1) 13 all_hematologic(175;0.0839) Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103) OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377) GTTCAAGTAAGGGAATGAGGT 0.408000 T IGH@ B-NHL 10 21 0 0 1 0 0 CTBP2 1488 broad.mit.edu 37 10 126715548 126715548 + Missense_Mutation SNP G G A rs149172507 byFrequency TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:126715548G>A ENST00000309035.6 - 1 911 c.781C>T c.(781-783)Cgg>Tgg p.R261W CTBP2_ENST00000494626.2_Intron|CTBP2_ENST00000531469.1_Intron|CTBP2_ENST00000411419.2_Intron|CTBP2_ENST00000337195.5_Intron NM_022802.2 NP_073713.2 P56545 CTBP2_HUMAN C-terminal binding protein 2 414 negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation cell junction|synapse|transcriptional repressor complex NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173) Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147) ATGCTTTCCCGGGCAGGCCCG 0.647000 30 46 0 0 1 0 0 SERPINA1 5265 broad.mit.edu 37 14 94849227 94849227 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr14:94849227G>A ENST00000448921.1 - 4 920 c.348C>T c.(346-348)atC>atT p.I116I SERPINA1_ENST00000393087.4_Silent_p.I116I|SERPINA1_ENST00000355814.4_Silent_p.I116I|SERPINA1_ENST00000402629.1_Silent_p.I116I|SERPINA1_ENST00000437397.1_Silent_p.I116I|SERPINA1_ENST00000440909.1_Silent_p.I116I|SERPINA1_ENST00000449399.3_Silent_p.I116I|SERPINA1_ENST00000393088.4_Silent_p.I116I|SERPINA1_ENST00000404814.4_Silent_p.I116I NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1 NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1 P01009 A1AT_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 116 I -> N (in QO-Ludwigshafen; dbSNP:rs28931572). acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix protease binding|serine-type endopeptidase inhibitor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1) 24 all_cancers(154;0.0649)|all_epithelial(191;0.223) Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221) Alpha-1-proteinase inhibitor(DB00058) AGCCTTCATGGATCTGAGCCT 0.587000 17 32 0 0 1 0 0 OBSL1 23363 broad.mit.edu 37 2 220431779 220431779 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:220431779G>A ENST00000404537.1 - 5 1963 c.1907C>T c.(1906-1908)tCc>tTc p.S636F OBSL1_ENST00000289656.3_Missense_Mutation_p.S223F|OBSL1_ENST00000603926.1_Missense_Mutation_p.S636F|OBSL1_ENST00000373876.1_Missense_Mutation_p.S636F|OBSL1_ENST00000373873.4_Missense_Mutation_p.S636F|OBSL1_ENST00000265318.4_Missense_Mutation_p.S636F NM_015311.2 NP_056126.1 O75147 OBSL1_HUMAN obscurin-like 1 636 cardiac myofibril assembly intercalated disc|M band|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity Renal(207;0.0376) Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834) GAGATCGAGGGAGAAGACGGC 0.607000 6 11 0 0 1 0 0 SPEF2 79925 broad.mit.edu 37 5 35806928 35806928 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:35806928C>T ENST00000440995.2 + 35 5115 c.5115C>T c.(5113-5115)atC>atT p.I1705I SPEF2_ENST00000303129.4_Silent_p.I507I|SPEF2_ENST00000356031.3_Silent_p.I1710I|CTD-2113L7.1_ENST00000510433.1_RNA Q9C093 SPEF2_HUMAN sperm flagellar 2 1710 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) ATGAAGAAATCCCTGAAAATG 0.433000 16 31 0 0 1 0 0 DLGAP2 9228 broad.mit.edu 37 8 1497038 1497038 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:1497038C>T ENST00000421627.2 + 2 313 c.179C>T c.(178-180)tCg>tTg p.S60L NM_004745.3 NP_004736.2 Q9P1A6 DLGP2_HUMAN discs, large (Drosophila) homolog-associated protein 2 139 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding breast(1)|endometrium(6)|lung(31)|prostate(3) 41 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) CCGCGCAGCTCGGTGCACTCG 0.731000 9 15 0 0 1 0 0 KRT12 3859 broad.mit.edu 37 17 39019386 39019386 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:39019386C>T ENST00000251643.4 - 6 1328 c.1305G>A c.(1303-1305)ggG>ggA p.G435G RP5-1110E20.1_ENST00000579136.1_RNA NM_000223.3 NP_000214.1 Q99456 K1C12_HUMAN keratin 12 435 Coil 2.|Rod. visual perception intermediate filament structural molecule activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2) 15 Breast(137;0.000301) CTTGGGCCTCCCCGTCCAGCA 0.607000 18 29 0 0 1 0 0 C2orf80 389073 broad.mit.edu 37 2 209045982 209045982 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:209045982C>T ENST00000341287.4 - 5 449 c.254G>A c.(253-255)cGa>cAa p.R85Q C2orf80_ENST00000453017.1_Missense_Mutation_p.R85Q|C2orf80_ENST00000451346.1_Missense_Mutation_p.R66Q NM_001099334.2 NP_001092804.1 Q0P641 CB080_HUMAN chromosome 2 open reading frame 80 85 endometrium(2)|large_intestine(3)|lung(6)|skin(2) 13 CATAGCTTCTCGTTCTCTACG 0.333000 34 11 0 0 1 0 0 MFN2 9927 broad.mit.edu 37 1 12064978 12064978 + Missense_Mutation SNP A A G TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:12064978A>G ENST00000235329.5 + 14 1811 c.1489A>G c.(1489-1491)Atg>Gtg p.M497V MFN2_ENST00000444836.1_Missense_Mutation_p.M497V NM_014874.3 NP_055689.1 O95140 MFN2_HUMAN mitofusin 2 497 blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion cytosol|integral to membrane|intrinsic to mitochondrial outer membrane GTP binding|GTPase activity|ubiquitin protein ligase binding endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2) 20 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;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656) GCAGCAGGACATGATAGGTTA 0.572000 11 8 0 0 1 0 0 BRF2 55290 broad.mit.edu 37 8 37702243 37702243 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:37702243G>A ENST00000220659.6 - 4 1145 c.1025C>T c.(1024-1026)tCc>tTc p.S342F GPR124_ENST00000315215.7_3'UTR|BRF2_ENST00000520601.1_3'UTR NM_018310.3 NP_060780.2 Q9HAW0 BRF2_HUMAN BRF2, RNA polymerase III transcription initiation factor 50 kDa subunit 342 regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent nucleoplasm protein binding|zinc ion binding breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1) 12 Lung NSC(58;0.118)|all_lung(54;0.195) BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10) TAAACCTAAGGAATTATTTCC 0.622000 23 36 0 0 1 0 0 MEF2D 4209 broad.mit.edu 37 1 156438605 156438605 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:156438605G>A ENST00000348159.4 - 10 1694 c.1214C>T c.(1213-1215)tCc>tTc p.S405F MEF2D_ENST00000464356.1_5'UTR|MEF2D_ENST00000368240.2_Missense_Mutation_p.S398F|MEF2D_ENST00000353795.3_Missense_Mutation_p.S359F|MEF2D_ENST00000340875.5_Missense_Mutation_p.S404F|MEF2D_ENST00000360595.3_Missense_Mutation_p.S398F NM_005920.2 NP_005911.1 Q14814 MEF2D_HUMAN myocyte enhancer factor 2D 405 apoptosis|muscle organ development|nervous system development|positive regulation of transcription from RNA polymerase II promoter nucleus activating transcription factor binding|histone deacetylase binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1) 15 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GACCAGGTGGGACTGTTGCTG 0.617000 27 39 0 0 1 0 0 NLGN4X 57502 broad.mit.edu 37 X 5811026 5811026 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:5811026G>A ENST00000381095.3 - 6 2910 c.2283C>T c.(2281-2283)acC>acT p.T761T NLGN4X_ENST00000381092.1_Silent_p.T761T|NLGN4X_ENST00000275857.6_Silent_p.T761T|NLGN4X_ENST00000538097.1_Silent_p.T761T|NLGN4X_ENST00000381093.2_Silent_p.T781T NM_181332.1 NP_851849.1 Q8N0W4 NLGNX_HUMAN neuroligin 4, X-linked 761 brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior cell surface|dendrite|integral to plasma membrane|synapse chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 81 GCAGCGTGAGGGTGTAGTCTG 0.562000 56 72 0 0 1 0 0 FGD5 152273 broad.mit.edu 37 3 14963955 14963955 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:14963955C>T ENST00000285046.5 + 15 3817 c.3707C>T c.(3706-3708)cCc>cTc p.P1236L FGD5_ENST00000543601.1_Missense_Mutation_p.P995L|FGD5_ENST00000476851.1_3'UTR|FGD5-AS1_ENST00000430166.1_RNA NM_152536.3 NP_689749.3 Q6ZNL6 FGD5_HUMAN FYVE, RhoGEF and PH domain containing 5 1236 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1) 54 GGGGAGAGGCCCCCCACCCTG 0.597000 2 0 0 0 1 0 0 SYNM 23336 broad.mit.edu 37 15 99671501 99671501 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr15:99671501C>T ENST00000336292.6 + 5 3053 c.2933C>T c.(2932-2934)cCg>cTg p.P978L SYNM_ENST00000328642.7_Missense_Mutation_p.P978L|SYNM_ENST00000560674.1_Missense_Mutation_p.P693L|RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000561323.1_3'UTR NM_145728.2 NP_663780.2 O15061 SYNEM_HUMAN synemin, intermediate filament protein 979 Tail. intermediate filament cytoskeleton organization adherens junction|costamere|intermediate filament|neurofilament cytoskeleton intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1) 29 CAGGGTGGGCCGGGGAGCGTT 0.632000 3 11 0 0 1 0 0 HFM1 164045 broad.mit.edu 37 1 91850783 91850783 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:91850783C>T ENST00000370425.3 - 6 861 c.763G>A c.(763-765)Gaa>Aaa p.E255K HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_Intron NM_001017975.3 NP_001017975.3 A2PYH4 HFM1_HUMAN HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) 255 ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 75 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) AAACCATTTTCTGTTACCTCT 0.264000 17 52 0 0 1 0 0 F2 2147 broad.mit.edu 37 11 46748059 46748059 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:46748059G>A ENST00000311907.5 + 8 942 c.886G>A c.(886-888)Gag>Aag p.E296K F2_ENST00000530231.1_Missense_Mutation_p.E296K NM_000506.3 NP_000497.1 P00734 THRB_HUMAN coagulation factor II (thrombin) 296 activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1) 27 all_lung(304;0.000414)|Lung NSC(402;0.0011) BRCA - Breast invasive adenocarcinoma(625;0.146) Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898) GGAGGCCGTGGAGGAGGAGAC 0.622000 7 20 0 0 1 0 0 MVP 9961 broad.mit.edu 37 16 29853078 29853078 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr16:29853078C>T ENST00000357402.5 + 9 1491 c.1353C>T c.(1351-1353)ccC>ccT p.P451P MVP_ENST00000395353.1_Silent_p.P451P|MVP_ENST00000452209.2_3'UTR NM_005115.4|NM_017458.3 NP_005106.2|NP_059447.2 Q14764 MVP_HUMAN major vault protein 451 mRNA transport|protein transport|response to drug|transmembrane transport cytoplasm|nuclear pore|ribonucleoprotein complex protein binding central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1) 27 CCTTGGCGCCCCGGAACAAGA 0.662000 10 16 0 0 1 0 0 NIPAL3 57185 broad.mit.edu 37 1 24790575 24790575 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:24790575C>T ENST00000003912.3 + 12 1455 c.740C>T c.(739-741)cCa>cTa p.P247L NIPAL3_ENST00000374399.4_Missense_Mutation_p.P329L|NIPAL3_ENST00000339255.2_Missense_Mutation_p.P329L Q6P499 NPAL3_HUMAN NIPA-like domain containing 3 329 integral to membrane endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1) 14 AAGCCCATTCCATTTGAGCCC 0.463000 6 19 0 0 1 0 0 OR2L2 26246 broad.mit.edu 37 1 248202350 248202350 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:248202350C>T ENST00000366479.2 + 1 877 c.781C>T c.(781-783)Cca>Tca p.P261S OR2L13_ENST00000366478.2_Intron NM_001004686.2 NP_001004686.1 Q8NH16 OR2L2_HUMAN olfactory receptor, family 2, subfamily L, member 2 261 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1) 42 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) CTATGTACGTCCAAGATCCCT 0.493000 38 44 0 0 1 0 0 KLHL4 56062 broad.mit.edu 37 X 86887299 86887299 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:86887299G>A ENST00000373119.4 + 7 1559 c.1414G>A c.(1414-1416)Gca>Aca p.A472T KLHL4_ENST00000373114.4_Missense_Mutation_p.A472T NM_019117.4 NP_061990.2 Q9C0H6 KLHL4_HUMAN kelch-like family member 4 472 cytoplasm|microtubule cytoskeleton|nucleolus actin binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1) 67 ATTTGGAGTCGCAGTTATTGA 0.408000 25 42 0 0 1 0 0 FAM47A 158724 broad.mit.edu 37 X 34149346 34149346 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:34149346G>A ENST00000346193.3 - 1 1101 c.1050C>T c.(1048-1050)ctC>ctT p.L350L NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 350 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 GCTCCGAGCGGAGACTGGACC 0.657000 24 31 0 0 1 0 0 ITIH4 3700 broad.mit.edu 37 3 52858010 52858010 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:52858010G>A ENST00000266041.4 - 10 1278 c.1182C>T c.(1180-1182)aaC>aaT p.N394N ITIH4-AS1_ENST00000478366.1_RNA|ITIH4_ENST00000406595.1_Silent_p.N394N|ITIH4_ENST00000434759.3_Silent_p.N306N|ITIH4_ENST00000346281.5_Silent_p.N394N|ITIH4_ENST00000485816.1_Silent_p.N394N NM_002218.4 NP_002209.2 Q14624 ITIH4_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 4 394 VWFA. acute-phase response|hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 30 BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496) TGCTCCTGGGGTTAGTCTCCC 0.547000 18 27 0 0 1 0 0 ENKD1 84080 broad.mit.edu 37 16 67700134 67700134 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr16:67700134C>T ENST00000243878.4 - 2 441 c.120G>A c.(118-120)ctG>ctA p.L40L ENKD1_ENST00000602644.1_Silent_p.L40L NM_032140.1 NP_115516.1 enkurin domain containing 1 TCAGCAAGTCCAGCTTCAGCG 0.736000 12 31 0 0 1 0 0 KIAA0101 9768 broad.mit.edu 37 15 64669077 64669077 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr15:64669077G>A ENST00000300035.4 - 3 293 c.155C>T c.(154-156)cCc>cTc p.P52L KIAA0101_ENST00000380258.2_Intron|KIAA0101_ENST00000558008.1_Missense_Mutation_p.P52L|KIAA0101_ENST00000560234.1_Missense_Mutation_p.P53S|KIAA0101_ENST00000559519.1_Missense_Mutation_p.P25L NM_014736.4 NP_055551.1 Q15004 PAF_HUMAN KIAA0101 52 mitochondrion|nucleus central_nervous_system(1)|lung(1)|upper_aerodigestive_tract(1) 3 CACGCAAACGGGGTTCCCTCC 0.378000 17 31 0 0 1 0 0 SLC26A1 10861 broad.mit.edu 37 4 985327 985327 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr4:985327G>A ENST00000361661.2 - 3 542 c.165C>T c.(163-165)ccC>ccT p.P55P IDUA_ENST00000247933.4_Intron|SLC26A1_ENST00000398516.2_Silent_p.P55P|SLC26A1_ENST00000398520.2_Silent_p.P55P|IDUA_ENST00000453894.1_Intron NM_213613.2 NP_998778.1 Q9H2B4 S26A1_HUMAN solute carrier family 26 (anion exchanger), member 1 55 integral to membrane|plasma membrane secondary active sulfate transmembrane transporter activity central_nervous_system(1)|endometrium(4)|pancreas(1)|prostate(1)|skin(1) 8 OV - Ovarian serous cystadenocarcinoma(23;0.0158) AGCGCGTGGCGGGGAGCAGGT 0.692000 13 22 0 0 1 0 0 VCAN 1462 broad.mit.edu 37 5 82817211 82817211 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:82817211G>A ENST00000265077.3 + 7 3651 c.3086G>A c.(3085-3087)gGa>gAa p.G1029E VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.G1029E|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.G981E NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 1029 GAG-alpha (glucosaminoglycan attachment domain). cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) ATCACAGAGGGAACAACTCAG 0.453000 17 25 0 0 1 0 0 TUBA3C 7278 broad.mit.edu 37 13 19751273 19751273 + Missense_Mutation SNP C C T rs146654670 TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr13:19751273C>T ENST00000400113.3 - 4 954 c.850G>A c.(850-852)Gag>Aag p.E284K NM_006001.2 NP_005992.1 Q13748 TBA3C_HUMAN tubulin, alpha 3c 284 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity p.E284K(1) NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1) 72 all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108) GACAGCTGCTCGTGGTAGGCC 0.607000 46 89 0 0 1 0 0 GFRA1 2674 broad.mit.edu 37 10 117884974 117884974 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:117884974G>A ENST00000439649.3 - 5 880 c.513C>T c.(511-513)acC>acT p.T171T GFRA1_ENST00000544592.1_Silent_p.T55T|GFRA1_ENST00000355422.6_Silent_p.T176T|GFRA1_ENST00000369236.1_Silent_p.T171T NM_001145453.1 NP_001138925.1 P56159 GFRA1_HUMAN GDNF family receptor alpha 1 176 axon guidance anchored to membrane|extrinsic to membrane|plasma membrane glial cell-derived neurotrophic factor receptor activity endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1) 26 Lung NSC(174;0.21) all cancers(201;0.0337) TGGTGCACGGGGTGATGTACG 0.587000 19 36 0 0 1 0 0 SPDYC 387778 broad.mit.edu 37 11 64938844 64938844 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:64938844G>A ENST00000377185.2 + 2 155 c.73G>A c.(73-75)Gac>Aac p.D25N NM_001008778.1 NP_001008778.1 Q5MJ68 SPDYC_HUMAN speedy/RINGO cell cycle regulator family member C 25 cell cycle nucleus protein kinase binding breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1) 16 TGACTCCCAAGACCCCACCAC 0.582000 41 83 0 0 1 0 0 CD163 9332 broad.mit.edu 37 12 7654044 7654044 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:7654044C>T ENST00000359156.4 - 3 350 c.148G>A c.(148-150)Gag>Aag p.E50K CD163_ENST00000432237.2_Missense_Mutation_p.E50K|CD163_ENST00000396620.3_Missense_Mutation_p.E50K|CD163_ENST00000541972.1_Missense_Mutation_p.E38K NM_004244.5 NP_004235.4 Q86VB7 C163A_HUMAN CD163 molecule 50 acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 AGCCTCAGCTCCTTGTCTGTT 0.438000 39 54 0 0 1 0 0 CHGB 1114 broad.mit.edu 37 20 5903718 5903718 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr20:5903718G>A ENST00000378961.4 + 4 1132 c.928G>A c.(928-930)Gaa>Aaa p.E310K NM_001819.2 NP_001810.2 P05060 SCG1_HUMAN chromogranin B (secretogranin 1) 310 extracellular region hormone activity breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 47 CCCCCAGGAGGAATCTGAGGA 0.572000 12 26 0 0 1 0 0 CNKSR2 22866 broad.mit.edu 37 X 21609288 21609288 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:21609288C>T ENST00000425654.2 + 14 2196 c.1716C>T c.(1714-1716)tcC>tcT p.S572S CNKSR2_ENST00000379510.3_Silent_p.S602S|CNKSR2_ENST00000543067.1_Silent_p.S553S|CNKSR2_ENST00000279451.4_Silent_p.S602S NM_001168647.1 NP_001162118.1 Q8WXI2 CNKR2_HUMAN connector enhancer of kinase suppressor of Ras 2 602 PH. regulation of signal transduction cytoplasm|membrane protein binding breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3) 61 AGGATGCATCCCTTTATTGGT 0.348000 50 69 0 0 1 0 0 SIRT4 23409 broad.mit.edu 37 12 120750389 120750389 + Missense_Mutation SNP G G C TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:120750389G>C ENST00000202967.4 + 3 687 c.628G>C c.(628-630)Gag>Cag p.E210Q SIRT4_ENST00000537892.1_3'UTR NM_012240.2 NP_036372.1 Q9Y6E7 SIRT4_HUMAN sirtuin 4 210 Deacetylase sirtuin-type. chromatin silencing|negative regulation of insulin secretion|protein ADP-ribosylation|protein deacetylation mitochondrial matrix hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3) 9 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) TCTCTCAGAGGAGCAAGTCCG 0.577000 24 58 0 0 1 0 0 C8orf74 203076 broad.mit.edu 37 8 10557944 10557944 + Missense_Mutation SNP G G C TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:10557944G>C ENST00000304519.5 + 4 877 c.848G>C c.(847-849)aGa>aCa p.R283T RP1L1_ENST00000329335.3_Intron NM_001040032.1 NP_001035121.1 Q6P047 CH074_HUMAN chromosome 8 open reading frame 74 283 central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1) 13 COAD - Colon adenocarcinoma(149;0.0811) AAGCCCCAAAGAGCGAGCAAA 0.597000 3 14 0 0 1 0 0 TOP2A 7153 broad.mit.edu 37 17 38557239 38557239 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:38557239G>A ENST00000423485.1 - 21 2685 c.2527C>T c.(2527-2529)Cct>Tct p.P843S NM_001067.3 NP_001058.2 P11388 TOP2A_HUMAN topoisomerase (DNA) II alpha 170kDa 843 apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2) 39 Breast(137;0.00328) STAD - Stomach adenocarcinoma(5;0.00183) Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385) GGAATAATAGGAATGTACCAT 0.408000 51 91 0 0 1 0 0 C19orf57 79173 broad.mit.edu 37 19 14000436 14000436 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:14000436G>A ENST00000454313.1 - 6 1291 c.1233C>T c.(1231-1233)gtC>gtT p.V411V C19orf57_ENST00000586783.1_Silent_p.V411V|C19orf57_ENST00000591586.1_Intron|C19orf57_ENST00000346736.2_Silent_p.V411V Q0VDD7 CS057_HUMAN chromosome 19 open reading frame 57 411 multicellular organismal development protein binding breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(19;2e-21) GGCCCACTAGGACATCGCCGG 0.652000 19 38 0 0 1 0 0 COQ9 57017 broad.mit.edu 37 16 57486715 57486715 + Missense_Mutation SNP A A T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr16:57486715A>T ENST00000262507.6 + 3 314 c.245A>T c.(244-246)tAt>tTt p.Y82F COQ9_ENST00000567072.1_Missense_Mutation_p.Y82F|COQ9_ENST00000567384.1_3'UTR|COQ9_ENST00000567933.1_Missense_Mutation_p.Y82F NM_020312.3 NP_064708.1 O75208 COQ9_HUMAN coenzyme Q9 82 ubiquinone biosynthetic process mitochondrion breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1) 16 TGTCTCAGGTATACAGACCAG 0.572000 39 78 0 0 1 0 0 MISP 126353 broad.mit.edu 37 19 757525 757525 + Missense_Mutation SNP C C A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:757525C>A ENST00000215582.6 + 2 682 c.579C>A c.(577-579)ttC>ttA p.F193L NM_173481.2 NP_775752.1 mitotic spindle positioning AGATTGACTTCCTGGCAGCGA 0.682000 6 0 0.248553 0.248553 1 1 0 USP6NL 9712 broad.mit.edu 37 10 11505362 11505362 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:11505362G>A ENST00000379237.1 - 15 1959 c.1565C>T c.(1564-1566)cCt>cTt p.P522L USP6NL_ENST00000277575.5_Missense_Mutation_p.P539L NM_014688.2 NP_055503.1 Q92738 US6NL_HUMAN USP6 N-terminal like 522 intracellular Rab GTPase activator activity endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1) 32 CACCTCGGCAGGACCTGGGAC 0.607000 53 115 0 0 1 0 0 GPRASP1 9737 broad.mit.edu 37 X 101911582 101911582 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:101911582G>A ENST00000537097.1 + 6 3554 c.2741G>A c.(2740-2742)gGa>gAa p.G914E GPRASP1_ENST00000444152.1_Missense_Mutation_p.G914E|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000361600.5_Missense_Mutation_p.G914E|GPRASP1_ENST00000415986.1_Missense_Mutation_p.G914E NM_001184727.1 NP_001171656.1 Q5JY77 GASP1_HUMAN G protein-coupled receptor associated sorting protein 1 914 Glu-rich.|OPRD1-binding. cytoplasm protein binding NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 TTCTGGGATGGAAAAGAAGTC 0.478000 61 90 0 0 1 0 0 REL 5966 broad.mit.edu 37 2 61149648 61149648 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:61149648C>T ENST00000295025.7 + 11 2158 c.1838C>T c.(1837-1839)cCa>cTa p.P613L REL_ENST00000394479.3_Missense_Mutation_p.P581L NM_002908.2 NP_002899.1 Q04864 REL_HUMAN v-rel avian reticuloendotheliosis viral oncogene homolog 613 positive regulation of I-kappaB kinase/NF-kappaB cascade nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 16 all_hematologic(2;0.0797) Ovarian(717;0.0728) LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221) GACTCCTTTCCATATGAATTT 0.333000 A Hodgkin Lymphoma 7 27 0 0 1 0 0 PPP1R26 9858 broad.mit.edu 37 9 138376850 138376850 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr9:138376850C>T ENST00000356818.2 + 4 1043 c.494C>T c.(493-495)gCc>gTc p.A165V PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000401470.3_Missense_Mutation_p.A165V|PPP1R26_ENST00000605660.1_Missense_Mutation_p.A165V|PPP1R26_ENST00000604351.1_Missense_Mutation_p.A165V|PPP1R26_ENST00000605286.1_Missense_Mutation_p.A165V NM_014811.3 NP_055626.3 Q5T8A7 K0649_HUMAN protein phosphatase 1, regulatory subunit 26 165 nucleolus protein binding CCTTCCAGGGCCGCAGGCGGA 0.672000 30 7 0 0 1 0 0 PCDHB5 26167 broad.mit.edu 37 5 140515221 140515221 + Missense_Mutation SNP A A G TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:140515221A>G ENST00000231134.5 + 1 422 c.205A>G c.(205-207)Aaa>Gaa p.K69E NM_015669.2 NP_056484.1 Q9Y5E4 PCDB5_HUMAN 69 Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 81 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AATGCATTACAAAGGAAACAA 0.517000 49 70 0 0 1 0 0 ARMC4 55130 broad.mit.edu 37 10 28149714 28149714 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:28149714C>T ENST00000305242.5 - 19 2953 c.2861G>A c.(2860-2862)aGg>aAg p.R954K ARMC4_ENST00000545014.1_Missense_Mutation_p.R479K|ARMC4_ENST00000537576.1_Missense_Mutation_p.R646K NM_018076.2 NP_060546.2 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 954 binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3) 75 CACTCTATTCCTGCCCCACAT 0.463000 25 39 0 0 1 0 0 HIVEP2 3097 broad.mit.edu 37 6 143092277 143092277 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr6:143092277G>A ENST00000367603.2 - 5 4341 c.3599C>T c.(3598-3600)cCa>cTa p.P1200L HIVEP2_ENST00000367604.1_Missense_Mutation_p.P1200L|HIVEP2_ENST00000012134.2_Missense_Mutation_p.P1200L NM_006734.3 NP_006725.3 P31629 ZEP2_HUMAN human immunodeficiency virus type I enhancer binding protein 2 1200 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 100 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) ATTCTGGATTGGAGAAAATGG 0.443000 78 48 0 0 1 0 0 TRAV9-1 28678 broad.mit.edu 37 14 22280041 22280041 + RNA SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr14:22280041G>A ENST00000390431.3 + 0 230 GACAAGGGAAGGAACAAAGGT 0.458000 16 22 0 0 1 0 0 THBS1 7057 broad.mit.edu 37 15 39880794 39880794 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr15:39880794G>A ENST00000260356.5 + 10 1704 c.1539G>A c.(1537-1539)caG>caA p.Q513Q NM_003246.2 NP_003237.2 P07996 TSP1_HUMAN thrombospondin 1 513 TSP type-1 3. activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223) GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105) Becaplermin(DB00102) GAGGGGTACAGAAACGTAGTC 0.512000 14 27 0 0 1 0 0 APOL3 80833 broad.mit.edu 37 22 36537676 36537676 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr22:36537676C>T ENST00000424878.2 - 4 2329 c.181G>A c.(181-183)Gac>Aac p.D61N APOL3_ENST00000397287.2_Missense_Mutation_p.D61N|APOL3_ENST00000349314.2_Missense_Mutation_p.D261N|APOL3_ENST00000397293.2_Missense_Mutation_p.D190N|APOL3_ENST00000361710.2_Missense_Mutation_p.D61N O95236 APOL3_HUMAN apolipoprotein L, 3 261 inflammatory response|lipoprotein metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm|extracellular region lipid binding|lipid transporter activity|signal transducer activity endometrium(2)|large_intestine(1)|lung(1)|stomach(1) 5 TTCAATCGGTCAATGCTGGTT 0.473000 28 46 0 0 1 0 0 TYRP1 7306 broad.mit.edu 37 9 12708017 12708017 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr9:12708017G>A ENST00000388918.5 + 7 1411 c.1282G>A c.(1282-1284)Gaa>Aaa p.E428K RP11-3L8.3_ENST00000417638.1_RNA|TYRP1_ENST00000381136.2_Missense_Mutation_p.E138K|TYRP1_ENST00000473504.1_3'UTR|TYRP1_ENST00000381137.2_Missense_Mutation_p.E137K NM_000550.2 NP_000541.1 P17643 TYRP1_HUMAN tyrosinase-related protein 1 428 melanin biosynthetic process clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1) 22 all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744) GBM - Glioblastoma multiforme(50;9.85e-06) ATTTCCATTGGAAAATGCCCC 0.358000 Oculocutaneous Albinism 18 9 0 0 1 0 0 RSPO2 340419 broad.mit.edu 37 8 109001353 109001353 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:109001353C>T ENST00000276659.5 - 3 834 c.214G>A c.(214-216)Gga>Aga p.G72R RSPO2_ENST00000517939.1_Missense_Mutation_p.G5R|RSPO2_ENST00000517781.1_Intron|RSPO2_ENST00000378439.2_Intron NM_178565.4 NP_848660.3 Q6UXX9 RSPO2_HUMAN R-spondin 2 72 Wnt receptor signaling pathway extracellular region heparin binding EIF3E/RSPO2(6) haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 28 OV - Ovarian serous cystadenocarcinoma(57;1.55e-09) AGGCACTCTCCATACTGGCGC 0.478000 31 41 0 0 1 0 0 SNORA71B 26776 broad.mit.edu 37 20 37053897 37053897 + RNA SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr20:37053897G>A ENST00000364546.1 - 0 82 CTTCAAACACGGGGAAGCGCT 0.502000 31 73 0 0 1 0 0 OR1S2 219958 broad.mit.edu 37 11 57971378 57971378 + Silent SNP G G A rs140744069 TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:57971378G>A ENST00000302592.6 - 1 275 c.276C>T c.(274-276)ccC>ccT p.P92P NM_001004459.1 NP_001004459.1 Q8NGQ3 OR1S2_HUMAN olfactory receptor, family 1, subfamily S, member 2 92 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1) 46 Breast(21;0.0589) CCAGCATTTTGGGGACTGAGT 0.418000 37 87 0 0 1 0 0 ADAM28 10863 broad.mit.edu 37 8 24181486 24181486 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:24181486G>A ENST00000265769.4 + 9 970 c.860G>A c.(859-861)aGa>aAa p.R287K ADAM28_ENST00000397649.3_Missense_Mutation_p.R34K|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000540823.1_Missense_Mutation_p.R54K|ADAM28_ENST00000437154.2_Missense_Mutation_p.R287K|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000518516.1_3'UTR NM_014265.4 NP_055080.2 Q9UKQ2 ADA28_HUMAN ADAM metallopeptidase domain 28 287 Peptidase M12B. proteolysis|spermatogenesis extracellular region|integral to membrane|plasma membrane metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Prostate(55;0.0959) Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175) CTCTCAAGAAGAAAGCGTCAT 0.403000 25 37 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 55849754 55849754 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:55849754G>A ENST00000373965.2 - 17 2402 c.2008C>T c.(2008-2010)Ctt>Ttt p.L670F PCDH15_ENST00000437009.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.L663F|PCDH15_ENST00000395432.2_Missense_Mutation_p.L626F|PCDH15_ENST00000414778.1_Missense_Mutation_p.L668F|PCDH15_ENST00000361849.3_Missense_Mutation_p.L663F|PCDH15_ENST00000373957.3_Missense_Mutation_p.L641F|PCDH15_ENST00000373955.1_Missense_Mutation_p.L663F|PCDH15_ENST00000409834.1_Missense_Mutation_p.L274F|PCDH15_ENST00000395446.1_Missense_Mutation_p.L663F|PCDH15_ENST00000395433.1_Missense_Mutation_p.L641F|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.L663F|PCDH15_ENST00000320301.6_Missense_Mutation_p.L663F|PCDH15_ENST00000395445.1_Missense_Mutation_p.L670F|PCDH15_ENST00000395442.1_Intron NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 663 Cadherin 6. 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) GTTTCTGAAAGATTAAAAACT 0.348000 HNSCC(58;0.16) 20 35 0 0 1 0 0 CNKSR2 22866 broad.mit.edu 37 X 21581440 21581440 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:21581440G>A ENST00000425654.2 + 12 1868 c.1388G>A c.(1387-1389)gGg>gAg p.G463E CNKSR2_ENST00000379510.3_Missense_Mutation_p.G493E|CNKSR2_ENST00000543067.1_Missense_Mutation_p.G444E|CNKSR2_ENST00000485012.1_3'UTR|CNKSR2_ENST00000279451.4_Missense_Mutation_p.G493E NM_001168647.1 NP_001162118.1 Q8WXI2 CNKR2_HUMAN connector enhancer of kinase suppressor of Ras 2 493 DUF1170. regulation of signal transduction cytoplasm|membrane protein binding breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3) 61 AAGGACACAGGGAAGAAGTCA 0.368000 34 47 0 0 1 0 0 HOMEZ 57594 broad.mit.edu 37 14 23745163 23745163 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr14:23745163G>A ENST00000357460.5 - 2 1438 c.1274C>T c.(1273-1275)cCt>cTt p.P425L HOMEZ_ENST00000561013.1_Missense_Mutation_p.P427L|HOMEZ_ENST00000431326.2_Missense_Mutation_p.P427L NM_020834.2 NP_065885.2 Q8IX15 HOMEZ_HUMAN homeobox and leucine zipper encoding 425 Pro-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.P425H(1)|p.P401H(1) endometrium(5)|lung(7) 12 all_cancers(95;5.54e-06) GBM - Glioblastoma multiforme(265;0.00643) AGGGGCACCAGGTACTGCGTT 0.537000 7 14 0 0 1 0 0 OSBPL10 114884 broad.mit.edu 37 3 31871624 31871624 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:31871624G>A ENST00000396556.2 - 4 759 c.637C>T c.(637-639)Ccc>Tcc p.P213S OSBPL10_ENST00000467647.1_5'UTR|OSBPL10_ENST00000438237.2_Intron NM_017784.4 NP_060254.2 Q9BXB5 OSB10_HUMAN oxysterol binding protein-like 10 213 lipid transport lipid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 STAD - Stomach adenocarcinoma(1;0.00406) ACAACACCGGGGGCCCCCACA 0.582000 16 27 0 0 1 0 0 CPED1 79974 broad.mit.edu 37 7 120740127 120740127 + Silent SNP G G A rs147197905 TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:120740127G>A ENST00000310396.5 + 7 1364 c.897G>A c.(895-897)aaG>aaA p.K299K CPED1_ENST00000423795.1_Silent_p.K79K|CPED1_ENST00000450913.2_Silent_p.K299K NM_024913.4 NP_079189.4 cadherin-like and PC-esterase domain containing 1 p.K299K(1) ATCCACCAAAGAAAAAACGCT 0.428000 24 37 0 0 1 0 0 CEP164 22897 broad.mit.edu 37 11 117242148 117242148 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:117242148C>T ENST00000278935.3 + 9 1265 c.1118C>T c.(1117-1119)tCt>tTt p.S373F CEP164_ENST00000533706.1_3'UTR NM_014956.4 NP_055771.4 Q9UPV0 CE164_HUMAN centrosomal protein 164kDa 373 cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis centriole|cytosol|nucleus breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3) 47 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008) AAGAAGGCTTCTGCTCTGGAA 0.572000 44 54 0 0 1 0 0 DNAJC3 5611 broad.mit.edu 37 13 96416176 96416176 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr13:96416176G>A ENST00000602402.1 + 9 1161 c.1044G>A c.(1042-1044)gaG>gaA p.E348E DNAJC3_ENST00000376795.6_Silent_p.E297E NM_006260.4 NP_006251.1 Q13217 DNJC3_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 3 348 protein folding|response to unfolded protein|response to virus heat shock protein binding|protein kinase inhibitor activity|unfolded protein binding NS(1)|breast(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.126) ATCGAGCAGAGGCCTATTTGA 0.378000 37 66 0 0 1 0 0 THEG 51298 broad.mit.edu 37 19 362332 362332 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:362332G>A ENST00000342640.4 - 8 1050 c.1008C>T c.(1006-1008)atC>atT p.I336I THEG_ENST00000346878.2_Silent_p.I312I NM_016585.4 NP_057669.1 Q9P2T0 THEG_HUMAN theg spermatid protein 336 cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis nucleus protein binding p.I336I(1) NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1) 29 all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCAGGGAGATGATCCGGGGGC 0.617000 70 25 0 0 1 0 0 ITGAL 3683 broad.mit.edu 37 16 30532957 30532957 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr16:30532957G>A ENST00000356798.6 + 31 3664 c.3484G>A c.(3484-3486)Gac>Aac p.D1162N ITGAL_ENST00000433423.2_Missense_Mutation_p.D396N|ITGAL_ENST00000358164.5_Missense_Mutation_p.D1078N NM_002209.2 NP_002200.2 P20701 ITAL_HUMAN integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide) 1162 blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell integrin complex cell adhesion molecule binding|receptor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 76 Efalizumab(DB00095) CCATGAGAAGGACTCTGAGAG 0.617000 22 30 0 0 1 0 0 SCAND3 114821 broad.mit.edu 37 6 28543894 28543894 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr6:28543894G>A ENST00000452236.2 - 3 1205 c.588C>T c.(586-588)tcC>tcT p.S196S SCAND3_ENST00000530247.1_5'UTR NM_052923.1 NP_443155.1 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 196 DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3) 71 GAGACATCATGGAAAACCACA 0.338000 16 14 0 0 1 0 0 DIRAS2 54769 broad.mit.edu 37 9 93375924 93375924 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr9:93375924C>T ENST00000375765.3 - 2 574 c.186G>A c.(184-186)acG>acA p.T62T NM_017594.3 NP_060064.2 Q96HU8 DIRA2_HUMAN DIRAS family, GTP-binding RAS-like 2 62 small GTPase mediated signal transduction intracellular|plasma membrane GTP binding|GTPase activity kidney(1)|large_intestine(6)|lung(3)|skin(2) 12 GGCTCCCCGTCGTGTCGGTGA 0.582000 75 27 0 0 1 0 0 ZNF804A 91752 broad.mit.edu 37 2 185800779 185800779 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:185800779C>T ENST00000302277.6 + 4 1250 c.656C>T c.(655-657)cCa>cTa p.P219L NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 219 intracellular zinc ion binding NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1) 146 TTTGCATTTCCAAAGAAAGCG 0.418000 36 47 0 0 1 0 0 SGK494 124923 broad.mit.edu 37 17 26939672 26939672 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:26939672C>T ENST00000301037.5 - 5 510 c.511G>A c.(511-513)Ggg>Agg p.G171R RP11-192H23.4_ENST00000577790.1_Intron|RP11-192H23.4_ENST00000534850.1_Intron|SPAG5-AS1_ENST00000554154.1_RNA|SPAG5-AS1_ENST00000424210.1_RNA|SGK494_ENST00000469832.3_5'UTR NM_001174103.1 NP_001167574.1 CAGCTGTCCCCCAAGCTGTGT 0.488000 8 29 0 0 1 0 0 MED30 90390 broad.mit.edu 37 8 118533124 118533124 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:118533124C>T ENST00000297347.3 + 1 173 c.9C>T c.(7-9)acC>acT p.T3T MED30_ENST00000522839.1_Silent_p.T3T NM_080651.2 NP_542382.1 Q96HR3 MED30_HUMAN mediator complex subunit 30 3 androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding kidney(1)|lung(3)|prostate(3) 7 all_cancers(13;3.41e-25)|Lung NSC(37;3.02e-05)|Ovarian(258;0.00163) STAD - Stomach adenocarcinoma(47;0.0266) CCATGTCCACCCCTCCGTTGG 0.721000 9 9 0 0 1 0 0 ZNF784 147808 broad.mit.edu 37 19 56133381 56133381 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:56133381G>A ENST00000325351.4 - 2 747 c.708C>T c.(706-708)tcC>tcT p.S236S ZNF784_ENST00000591479.1_3'UTR NM_203374.1 NP_976308.1 Q8NCA9 ZN784_HUMAN zinc finger protein 784 236 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1) 1 BRCA - Breast invasive adenocarcinoma(297;0.18) GBM - Glioblastoma multiforme(193;0.105) TAAGCACCGAGGACTGGGTGA 0.662000 4 6 0 0 1 0 0 CCDC176 80127 broad.mit.edu 37 14 74516717 74516717 + Nonsense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr14:74516717C>T ENST00000394009.3 + 8 1228 c.1105C>T c.(1105-1107)Caa>Taa p.Q369* AC005484.5_ENST00000492026.1_RNA|CCDC176_ENST00000553773.1_Nonsense_Mutation_p.Q94* NM_025057.2 NP_079333.2 coiled-coil domain containing 176 TGCTCTGCACCAAGTGAAGCA 0.408000 24 32 0 0 1 0 0 LGR6 59352 broad.mit.edu 37 1 202270008 202270008 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:202270008C>T ENST00000367278.3 + 8 906 c.817C>T c.(817-819)Cca>Tca p.P273S LGR6_ENST00000308543.3_3'UTR|LGR6_ENST00000255432.7_Missense_Mutation_p.P221S|LGR6_ENST00000439764.2_Missense_Mutation_p.P134S NM_001017403.1 NP_001017403.1 Q9HBX8 LGR6_HUMAN leucine-rich repeat containing G protein-coupled receptor 6 273 integral to membrane|plasma membrane protein-hormone receptor activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3) 36 CAAGGCCATCCCAGAAAAGGC 0.498000 44 62 0 0 1 0 0 CNGA2 1260 broad.mit.edu 37 X 150908082 150908082 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:150908082C>T ENST00000329903.4 + 3 285 c.252C>T c.(250-252)ttC>ttT p.F84F NM_005140.1 NP_005131.1 Q16280 CNGA2_HUMAN cyclic nucleotide gated channel alpha 2 84 response to stimulus|sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2) 49 Acute lymphoblastic leukemia(192;6.56e-05) ACAAGAATTTCCGAGAGGAGG 0.532000 26 38 0 0 1 0 0 FARP1 10160 broad.mit.edu 37 13 98865605 98865605 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr13:98865605G>A ENST00000376586.2 + 2 445 c.109G>A c.(109-111)Gga>Aga p.G37R FARP1_ENST00000319562.6_Missense_Mutation_p.G37R|FARP1_ENST00000376581.5_Missense_Mutation_p.G37R|FARP1_ENST00000595437.1_Missense_Mutation_p.G37R Q9Y4F1 FARP1_HUMAN FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) 37 regulation of Rho protein signal transduction cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1) 49 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.233) AACACCTTCAGGAAAACTCGT 0.542000 72 124 0 0 1 0 0 TANC1 85461 broad.mit.edu 37 2 160086254 160086254 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:160086254C>T ENST00000263635.6 + 27 4554 c.4317C>T c.(4315-4317)tcC>tcT p.S1439S TANC1_ENST00000454300.1_Silent_p.S1333S NM_001145909.1|NM_033394.2 NP_001139381.1|NP_203752.2 Q9C0D5 TANC1_HUMAN tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 1439 cell junction|postsynaptic density|postsynaptic membrane binding breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 77 TCAACGACTCCGAGAACGAAG 0.537000 42 67 0 0 1 0 0 ABHD16A 7920 broad.mit.edu 37 6 31657450 31657450 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr6:31657450G>A ENST00000375842.4 - 12 1318 c.332C>T c.(331-333)gCc>gTc p.A111V ABHD16A_ENST00000395952.3_Missense_Mutation_p.A330V|ABHD16A_ENST00000471644.1_5'UTR|XXbac-BPG32J3.20_ENST00000461287.1_3'UTR|ABHD16A_ENST00000440843.2_Missense_Mutation_p.A297V O95870 ABHGA_HUMAN abhydrolase domain containing 16A 330 integral to membrane hydrolase activity|protein binding endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1) 10 CACATCCATGGCATTAGCCTC 0.592000 10 12 0 0 1 0 0 SLCO6A1 133482 broad.mit.edu 37 5 101748743 101748743 + Missense_Mutation SNP G G T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:101748743G>T ENST00000506729.1 - 9 1748 c.1577C>A c.(1576-1578)tCt>tAt p.S526Y SLCO6A1_ENST00000513675.1_Missense_Mutation_p.S273Y|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.S464Y|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.S526Y|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.S273Y Q86UG4 SO6A1_HUMAN solute carrier organic anion transporter family, member 6A1 526 Kazal-like. integral to membrane|plasma membrane transporter activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323) Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113) AAAGCAGGGAGAAAAATATTC 0.299000 13 21 4.36969e-10 4.41062e-10 1 1 0 NBPF1 55672 broad.mit.edu 37 1 16895701 16895701 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:16895701G>A ENST00000430580.2 - 23 3368 c.2481C>T c.(2479-2481)gtC>gtT p.V827V NBPF1_ENST00000432949.1_Intron|NBPF1_ENST00000287968.8_3'UTR|NBPF1_ENST00000420031.2_3'UTR NM_017940.3 NP_060410.2 Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 827 NBPF 4. cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) ACTCCTGGGGGACTTCCTCCT 0.483000 24 298 0 0 1 0 0 KCNH4 23415 broad.mit.edu 37 17 40315719 40315719 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:40315719G>A ENST00000264661.3 - 13 2714 c.2382C>T c.(2380-2382)tcC>tcT p.S794S KCNH4_ENST00000607371.1_Silent_p.S794S NM_012285.2 NP_036417.1 Q9UQ05 KCNH4_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 4 794 regulation of transcription, DNA-dependent voltage-gated potassium channel complex two-component sensor activity|voltage-gated potassium channel activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1) 32 all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) GGCCGTGAGGGGAGGCACTGT 0.657000 8 17 0 0 1 0 0 ALG13 79868 broad.mit.edu 37 X 110966071 110966071 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:110966071G>A ENST00000394780.3 + 13 1498 c.1486G>A c.(1486-1488)Gga>Aga p.G496R ALG13_ENST00000251943.4_Missense_Mutation_p.G392R NM_001099922.2|NM_001257231.1 NP_001093392.1|NP_001244160.1 Q9NP73 ALG13_HUMAN ALG13, UDP-N-acetylglucosaminyltransferase subunit 496 Tudor. dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity endometrium(2)|lung(10)|skin(1) 13 GTACTATTTGGGAGACAAGTG 0.328000 7 15 0 0 1 0 0 RGS11 8786 broad.mit.edu 37 16 320993 320993 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr16:320993C>T ENST00000397770.3 - 13 986 c.969G>A c.(967-969)aaG>aaA p.K323K RGS11_ENST00000359740.5_Silent_p.K312K|RGS11_ENST00000316163.5_Silent_p.K302K|ARHGDIG_ENST00000464609.1_Intron O94810 RGS11_HUMAN regulator of G-protein signaling 11 323 RGS. G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity endometrium(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1) 8 all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186) CACTGAACTCCTTTCCCAGAA 0.672000 12 13 0 0 1 0 0 ZNF592 9640 broad.mit.edu 37 15 85345185 85345185 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr15:85345185C>T ENST00000299927.3 + 8 3387 c.3365C>T c.(3364-3366)tCc>tTc p.S1122F ZNF592_ENST00000560079.2_Missense_Mutation_p.S1122F Q92610 ZN592_HUMAN zinc finger protein 592 1122 cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(143;0.0587) AGGCACAAGTCCCTTTTTCAG 0.537000 31 46 0 0 1 0 0 STK19 8859 broad.mit.edu 37 6 31940120 31940120 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr6:31940120G>A ENST00000375331.2 + 2 428 c.262G>A c.(262-264)Gaa>Aaa p.E88K STK19_ENST00000375333.2_Missense_Mutation_p.E88K NM_004197.1 NP_004188.1 P49842 STK19_HUMAN serine/threonine kinase 19 88 nucleus ATP binding|protein binding|protein serine/threonine kinase activity p.E88K(1) skin(5)|upper_aerodigestive_tract(2) 7 CTCTGCGCCGGAAGACCCTAT 0.582000 40 26 0 0 1 0 0 ZNF366 167465 broad.mit.edu 37 5 71757217 71757217 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:71757217C>T ENST00000318442.5 - 2 597 c.107G>A c.(106-108)gGa>gAa p.G36E NM_152625.1 NP_689838.1 Q8N895 ZN366_HUMAN zinc finger protein 366 36 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 35 Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155) OV - Ovarian serous cystadenocarcinoma(47;2.51e-53) GGGAGCCTTTCCCCGAGAAGC 0.567000 23 39 0 0 1 0 0 AMER1 139285 broad.mit.edu 37 X 63412636 63412636 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:63412636G>A ENST00000330258.3 - 2 803 c.531C>T c.(529-531)cgC>cgT p.R177R AMER1_ENST00000374869.3_Silent_p.R177R|AMER1_ENST00000403336.1_Silent_p.R177R NM_152424.3 NP_689637.3 APC membrane recruitment protein 1 p.0?(67) TCCGGTGACGGCGGATACTGC 0.567000 50 64 0 0 1 0 0 ST6GAL1 6480 broad.mit.edu 37 3 186760702 186760702 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:186760702C>T ENST00000169298.3 + 4 885 c.211C>T c.(211-213)Ccc>Tcc p.P71S ST6GAL1_ENST00000448044.1_Missense_Mutation_p.P71S|ST6GAL1_ENST00000457772.2_Intron NM_173216.2 NP_775323.1 P15907 SIAT1_HUMAN ST6 beta-galactosamide alpha-2,6-sialyltranferase 1 71 humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine extracellular region|Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1) 7 all_cancers(143;2.33e-12)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;8.53e-19) GBM - Glioblastoma multiforme(93;0.0939) CACCCAGGACCCCCACAGGGG 0.547000 23 70 0 0 1 0 0 NOTCH1 4851 broad.mit.edu 37 9 139411742 139411742 + Nonsense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr9:139411742G>A ENST00000277541.6 - 9 1612 c.1537C>T c.(1537-1539)Cag>Tag p.Q513* NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 513 EGF-like 13; calcium-binding (Potential). aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) CACTCGCACTGGAACTCATTG 0.682000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 12 2 0 0 1 0 0 MIR145 406937 broad.mit.edu 37 5 148810268 148810268 + RNA SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:148810268C>T ENST00000384967.1 + 0 60 NR_029686.1 ATGGGGATTCCTGGAAATACT 0.572000 OREG0016915 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 12 0 0 1 0 0 CXorf57 55086 broad.mit.edu 37 X 105879862 105879862 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:105879862G>A ENST00000372548.4 + 7 1502 c.1393G>A c.(1393-1395)Gga>Aga p.G465R CXorf57_ENST00000372544.2_Missense_Mutation_p.G465R NM_018015.5 NP_060485.4 Q6NSI4 CX057_HUMAN chromosome X open reading frame 57 465 NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 31 AAATGAGAGTGGAGTGTTTAT 0.313000 36 49 0 0 1 0 0 CACYBP 27101 broad.mit.edu 37 1 174973897 174973897 + Missense_Mutation SNP C C T rs11548912 TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:174973897C>T ENST00000367681.2 + 2 674 c.34C>T c.(34-36)Ctt>Ttt p.L12F CACYBP_ENST00000367679.2_Missense_Mutation_p.L55F|CACYBP_ENST00000405362.1_Missense_Mutation_p.L12F|CACYBP_ENST00000406752.1_Missense_Mutation_p.L55F NM_001007214.1 NP_001007215.1 Q9HB71 CYBP_HUMAN calcyclin binding protein 55 Interaction with SIAH1. beta-catenin destruction complex protein homodimerization activity NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|prostate(1) 11 AGCAGAACTTCTTGATAATGA 0.403000 27 32 0 0 1 0 0 HECTD4 283450 broad.mit.edu 37 12 112646363 112646363 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:112646363C>T ENST00000550722.1 - 51 7896 c.7501G>A c.(7501-7503)Gac>Aac p.D2501N HECTD4_ENST00000377560.5_Missense_Mutation_p.D2475N|HECTD4_ENST00000430131.2_Missense_Mutation_p.D2225N NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 GGGTGAGGGTCTGGGCCAGAG 0.483000 25 98 0 0 1 0 0 HIRA 7290 broad.mit.edu 37 22 19363264 19363264 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr22:19363264G>A ENST00000263208.5 - 15 1921 c.1665C>T c.(1663-1665)acC>acT p.T555T HIRA_ENST00000546308.1_Silent_p.T511T|HIRA_ENST00000340170.4_Silent_p.T555T|HIRA_ENST00000541063.1_Silent_p.T511T NM_003325.3 NP_003316.3 P54198 HIRA_HUMAN histone cell cycle regulator 555 Interaction with CCNA1. chromatin modification|regulation of transcription from RNA polymerase II promoter PML body chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1) 37 Colorectal(54;0.0993) TCTTGGACGGGGTCGTTAACA 0.547000 21 37 0 0 1 0 0 PPEF2 5470 broad.mit.edu 37 4 76797633 76797633 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr4:76797633G>A ENST00000286719.7 - 11 1483 c.1127C>T c.(1126-1128)cCc>cTc p.P376L NM_006239.2 NP_006230.2 O14830 PPE2_HUMAN protein phosphatase, EF-hand calcium binding domain 2 376 Catalytic. detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception cytoplasm|photoreceptor inner segment|photoreceptor outer segment calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) ACCGCTGCAGGGGATGCTGGA 0.662000 11 16 0 0 1 0 0 PRKCG 5582 broad.mit.edu 37 19 54407892 54407892 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:54407892C>T ENST00000263431.3 + 16 1942 c.1660C>T c.(1660-1662)Ccc>Tcc p.P554S PRKCG_ENST00000542049.1_Intron|PRKCG_ENST00000540413.1_Missense_Mutation_p.P554S NM_002739.3 NP_002730.1 P05129 KPCG_HUMAN protein kinase C, gamma 554 Protein kinase. activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission cytosol ATP binding|protein kinase C activity|zinc ion binding large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1) 10 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0521) TTGATAGCCTCCCTTCGATGG 0.582000 4 16 0 0 1 0 0 VCAN 1462 broad.mit.edu 37 5 82836515 82836515 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:82836515G>A ENST00000265077.3 + 8 8258 c.7693G>A c.(7693-7695)Gaa>Aaa p.E2565K VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.E1578K|VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000513016.1_3'UTR NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 2565 GAG-beta. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) TACCATCCTTGAAATTCTACC 0.328000 30 42 0 0 1 0 0 FAM19A2 338811 broad.mit.edu 37 12 62147517 62147517 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:62147517C>T ENST00000416284.3 - 4 1854 c.270G>A c.(268-270)gtG>gtA p.V90V FAM19A2_ENST00000551619.1_Silent_p.V90V|FAM19A2_ENST00000551449.1_Intron|FAM19A2_ENST00000550003.1_5'UTR NM_178539.4 NP_848634.1 Q8N3H0 F19A2_HUMAN family with sequence similarity 19 (chemokine (C-C motif)-like), member A2 90 cytoplasm endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1) 15 GBM - Glioblastoma multiforme(1;0.00484) GBM - Glioblastoma multiforme(3;0.02) ATTTCTGTTCCACTATTGAAG 0.388000 59 12 0 0 1 0 0 LAMA1 284217 broad.mit.edu 37 18 7023295 7023295 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr18:7023295G>A ENST00000389658.3 - 19 2662 c.2569C>T c.(2569-2571)Ccc>Tcc p.P857S NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 857 Laminin EGF-like 8. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GCCTCCGAGGGGTCCACGTTG 0.552000 23 40 0 0 1 0 0 VPRBP 9730 broad.mit.edu 37 3 51440676 51440676 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:51440676G>A ENST00000335891.5 - 16 3028 c.3019C>T c.(3019-3021)Ccc>Tcc p.P1007S Q9Y4B6 VPRBP_HUMAN Vpr (HIV-1) binding protein 1456 interspecies interaction between organisms cytoplasm|nucleus protein binding breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875) TCATCAGAGGGAGAGAAGTCA 0.532000 15 15 0 0 1 0 0 ARHGAP15 55843 broad.mit.edu 37 2 144194581 144194581 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:144194581G>A ENST00000295095.6 + 8 840 c.673G>A c.(673-675)Gaa>Aaa p.E225K AC096558.1_ENST00000550516.1_RNA|AC096558.1_ENST00000549032.1_RNA|RP11-570L15.2_ENST00000546678.1_RNA|AC096558.1_ENST00000442794.1_RNA NM_018460.3 NP_060930.3 Q53QZ3 RHG15_HUMAN Rho GTPase activating protein 15 225 regulation of cell shape|small GTPase mediated signal transduction cytosol|membrane protein binding|Rac GTPase activator activity endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2) 34 BRCA - Breast invasive adenocarcinoma(221;0.151) TGATATAAAAGAACAGAAACC 0.338000 16 28 0 0 1 0 0 ZNF831 128611 broad.mit.edu 37 20 57769129 57769129 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr20:57769129G>A ENST00000371030.2 + 1 3055 c.3055G>A c.(3055-3057)Ggg>Agg p.G1019R NM_178457.1 NP_848552.1 Q5JPB2 ZN831_HUMAN zinc finger protein 831 1019 intracellular nucleic acid binding|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3) 125 all_lung(29;0.0085) TGGGAGAAAAGGGGCACAGTT 0.667000 9 19 0 0 1 0 0 LHB 3972 broad.mit.edu 37 19 49519378 49519378 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:49519378C>T ENST00000221421.2 - 3 372 c.373G>A c.(373-375)Gac>Aac p.D125N NM_000894.2 NP_000885.1 P01229 LSHB_HUMAN luteinizing hormone beta polypeptide 125 cell-cell signaling|cellular nitrogen compound metabolic process|male gonad development|peptide hormone processing|progesterone biosynthetic process|signal transduction extracellular region|soluble fraction hormone activity cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1) 8 all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427) Lutropin alfa(DB00044)|Menotropins(DB00032) AAGGGGTGGTCTTTGGGACCC 0.652000 38 62 0 0 1 0 0 FAM47A 158724 broad.mit.edu 37 X 34148303 34148303 + Nonsense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:34148303C>T ENST00000346193.3 - 1 2144 c.2093G>A c.(2092-2094)tGg>tAg p.W698* NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 698 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 CTTGAGGTACCATGCTCCATA 0.438000 41 73 0 0 1 0 0 TRIM7 81786 broad.mit.edu 37 5 180622618 180622618 + Missense_Mutation SNP T T G TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:180622618T>G ENST00000393315.1 - 7 1157 c.460A>C c.(460-462)Aag>Cag p.K154Q TRIM7_ENST00000422067.2_Missense_Mutation_p.K154Q|TRIM7_ENST00000504241.1_5'UTR|TRIM7_ENST00000274773.7_Missense_Mutation_p.K362Q|CTC-338M12.6_ENST00000512508.1_RNA|TRIM7_ENST00000393319.3_Missense_Mutation_p.K180Q|TRIM7_ENST00000361809.3_Missense_Mutation_p.K154Q NM_203296.1 NP_976041.1 Q9C029 TRIM7_HUMAN tripartite motif containing 7 362 cytoplasm|nucleus zinc ion binding NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1) 17 all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684) all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802) CGCACGCCCTTAAGATCCAGA 0.672000 32 41 0 0 1 0 0 LMTK3 114783 broad.mit.edu 37 19 49000676 49000676 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:49000676G>A ENST00000600059.1 - 11 3877 c.3650C>T c.(3649-3651)cCt>cTt p.P1217L LMTK3_ENST00000270238.3_Missense_Mutation_p.P1246L lemur tyrosine kinase 3 breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1) 16 all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231) GTTCCCCTGAGGGGGTCCCAA 0.667000 16 49 0 0 1 0 0 AMPH 273 broad.mit.edu 37 7 38431519 38431519 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:38431519C>T ENST00000356264.2 - 19 1923 c.1708G>A c.(1708-1710)Gag>Aag p.E570K AMPH_ENST00000325590.5_Missense_Mutation_p.E528K|AMPH_ENST00000428293.2_Missense_Mutation_p.E528K NM_001635.3 NP_001626.1 P49418 AMPH_HUMAN amphiphysin 570 endocytosis|synaptic transmission actin cytoskeleton|cell junction|synaptic vesicle membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2) 62 GCCGCGTCCTCGGTGGTCTCC 0.597000 29 35 0 0 1 0 0 PLK4 10733 broad.mit.edu 37 4 128811293 128811293 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr4:128811293C>T ENST00000270861.5 + 7 2006 c.1732C>T c.(1732-1734)Cca>Tca p.P578S PLK4_ENST00000514379.1_Missense_Mutation_p.P537S|PLK4_ENST00000513090.1_Missense_Mutation_p.P546S|PLK4_ENST00000507249.1_Missense_Mutation_p.P544S|PLK4_ENST00000515069.1_Missense_Mutation_p.P500S NM_014264.4 NP_055079.3 O00444 PLK4_HUMAN polo-like kinase 4 578 G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation centriole|cleavage furrow|cytosol|nucleolus ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1) 31 GGGTATGGAGCCACCATGGGG 0.418000 9 38 0 0 1 0 0 TLN2 83660 broad.mit.edu 37 15 62978840 62978840 + Splice_Site SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr15:62978840G>A ENST00000561311.1 + 11 1188 c.957_splice c.e11-1 p.E320_splice RP11-625H11.2_ENST00000559589.1_RNA|TLN2_ENST00000306829.6_Splice_Site_p.E320_splice Q9Y4G6 TLN2_HUMAN talin 2 320 FERM.|Interaction with PIP5K1C (By similarity). cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5) 99 CCTGTTTCAGGAGAAGATGAA 0.493000 7 8 0 0 1 0 0 VWF 7450 broad.mit.edu 37 12 6120860 6120860 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:6120860C>T ENST00000261405.5 - 34 6019 c.5765G>A c.(5764-5766)gGg>gAg p.G1922E NM_000552.3 NP_000543.2 P04275 VWF_HUMAN von Willebrand factor 1922 blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) AGGCCTCAGCCCCCGGTCACA 0.622000 16 17 0 0 1 0 0 YJEFN3 374887 broad.mit.edu 37 19 19646389 19646389 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:19646389C>T ENST00000555938.1 + 7 604 c.592C>T c.(592-594)Ccc>Tcc p.P198S YJEFN3_ENST00000514277.3_Missense_Mutation_p.P199S|YJEFN3_ENST00000436027.4_Missense_Mutation_p.P149S CGTACTGGGCCCCGGCGTGGA 0.697000 8 17 0 0 1 0 0 USP19 10869 broad.mit.edu 37 3 49152479 49152479 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:49152479G>A ENST00000453664.1 - 14 2376 c.2058C>T c.(2056-2058)ttC>ttT p.F686F USP19_ENST00000398898.2_Silent_p.F635F|USP19_ENST00000398888.2_Silent_p.F595F|USP19_ENST00000417901.1_Silent_p.F698F|USP19_ENST00000434032.2_Silent_p.F696F|USP19_ENST00000398896.1_Silent_p.F403F|USP19_ENST00000398892.3_Silent_p.F635F NM_001199161.1|NM_001199162.1 NP_001186090.1|NP_001186091.1 O94966 UBP19_HUMAN ubiquitin specific peptidase 19 595 ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy endoplasmic reticulum membrane|integral to membrane ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) CATCCAGCAGGAAAGCCATGA 0.567000 14 44 0 0 1 0 0 PCDHB12 56124 broad.mit.edu 37 5 140590801 140590801 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:140590801C>T ENST00000239450.2 + 1 2511 c.2322C>T c.(2320-2322)ttC>ttT p.F774F PCDHB12_ENST00000541609.1_Silent_p.F437F NM_018932.3 NP_061755.1 Q9Y5F1 PCDBC_HUMAN 774 homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCCCCAACTTCCTACCCCAGA 0.428000 40 40 0 0 1 0 0 PPIF 10105 broad.mit.edu 37 10 81113531 81113531 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:81113531C>T ENST00000225174.3 + 6 628 c.557C>T c.(556-558)tCt>tTt p.S186F PPIF_ENST00000394579.3_3'UTR NM_005729.3 NP_005720.1 P30405 PPIF_HUMAN peptidylprolyl isomerase F 186 PPIase cyclophilin-type. protein folding membrane fraction|mitochondrial matrix peptidyl-prolyl cis-trans isomerase activity endometrium(2)|lung(2)|skin(2) 6 all_cancers(46;0.0893)|Breast(12;8.52e-05)|all_epithelial(25;0.00449)|Prostate(51;0.00985) Epithelial(14;0.00242)|all cancers(16;0.0069)|Colorectal(32;0.229) Dimethyl sulfoxide(DB01093)|L-Proline(DB00172) AAAATAGAATCTTTCGGCTCT 0.537000 36 41 0 0 1 0 0 TRIM71 131405 broad.mit.edu 37 3 32932864 32932864 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:32932864G>A ENST00000383763.4 + 4 2231 c.2168G>A c.(2167-2169)cGg>cAg p.R723Q NM_001039111.1 NP_001034200.1 Q2Q1W2 LIN41_HUMAN tripartite motif containing 71, E3 ubiquitin protein ligase 723 multicellular organismal development cytoplasm zinc ion binding breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 AGGAACCACCGGATCCAGCTG 0.542000 16 19 0 0 1 0 0 BCL2L10 10017 broad.mit.edu 37 15 52404618 52404618 + Silent SNP G G T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr15:52404618G>T ENST00000260442.3 - 1 354 c.306C>A c.(304-306)acC>acA p.T102T BCL2L10_ENST00000561198.1_Silent_p.T102T NM_020396.2 NP_065129.1 Q9HD36 B2L10_HUMAN BCL2-like 10 (apoptosis facilitator) 92 activation of caspase activity|anti-apoptosis|female gamete generation|spermatogenesis cytosol|integral to membrane|membrane fraction|mitochondrion|nuclear membrane protein binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(1) 2 all cancers(107;0.0148) TCCCTGCGAAGGTCACGAGCG 0.701000 16 19 0.006122 0.00613118 1 1 0 UGT2B4 7363 broad.mit.edu 37 4 70346427 70346427 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr4:70346427C>T ENST00000305107.6 - 6 1558 c.1512G>A c.(1510-1512)gtG>gtA p.V504V UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000512583.1_3'UTR|UGT2B4_ENST00000381096.3_Silent_p.V368V NM_021139.2 NP_066962.2 P06133 UD2B4_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B4 504 estrogen catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity p.V504V(1) autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 47 TGATGAATATCACAGTTGCCA 0.488000 55 64 0 0 1 0 0 ZSCAN18 65982 broad.mit.edu 37 19 58596244 58596244 + Nonsense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:58596244C>T ENST00000240727.6 - 7 1740 c.1341G>A c.(1339-1341)tgG>tgA p.W447* ZSCAN18_ENST00000421612.2_Nonsense_Mutation_p.W311*|ZSCAN18_ENST00000600404.1_Nonsense_Mutation_p.W503*|ZSCAN18_ENST00000601144.1_Nonsense_Mutation_p.W447* NM_023926.4 NP_076415.3 Q8TBC5 ZSC18_HUMAN zinc finger and SCAN domain containing 18 447 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3) 19 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) GGAAGGTCTTCCAGCAGCCCT 0.687000 6 11 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179437888 179437888 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:179437888G>A ENST00000589042.1 - 326 73195 c.72971C>T c.(72970-72972)cCt>cTt p.P24324L TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P21756L|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P22683L|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P15384L|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P15451L|TTN_ENST00000460472.2_Missense_Mutation_p.P15259L|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 22683 Fibronectin type-III 76. 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) TGGTGGTCCAGGTTTAAACAC 0.433000 29 47 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237666759 237666759 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:237666759C>T ENST00000366574.2 + 22 2884 c.2567C>T c.(2566-2568)tCc>tTc p.S856F RYR2_ENST00000360064.6_Missense_Mutation_p.S854F|RYR2_ENST00000542537.1_Missense_Mutation_p.S840F NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 856 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CCCACAGTTTCCCTGACGCAA 0.502000 50 22 0 0 1 0 0 OR10V1 390201 broad.mit.edu 37 11 59480636 59480636 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:59480636C>T ENST00000307552.2 - 1 701 c.683G>A c.(682-684)cGg>cAg p.R228Q NM_001005324.1 NP_001005324.1 Q8NGI7 O10V1_HUMAN olfactory receptor, family 10, subfamily V, member 1 228 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(3)|liver(1)|lung(10)|skin(1) 16 TGACCGGATCCGTAAAATGGC 0.493000 32 43 0 0 1 0 0 FAM24B 196792 broad.mit.edu 37 10 124608807 124608807 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:124608807C>T ENST00000368898.3 - 4 531 c.241G>A c.(241-243)Gat>Aat p.D81N FAM24B_ENST00000462859.1_5'UTR|CUZD1_ENST00000368904.1_5'UTR|CUZD1_ENST00000545804.1_Intron|FAM24B_ENST00000368896.1_Missense_Mutation_p.D81N NM_152644.2 NP_689857.2 Q8N5W8 FA24B_HUMAN family with sequence similarity 24, member B 81 extracellular region endometrium(1)|kidney(1)|large_intestine(1)|lung(1) 4 all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205) Colorectal(40;0.136)|COAD - Colon adenocarcinoma(40;0.141) GGCAGGGAATCAAAACTGGCA 0.483000 31 47 0 0 1 0 0 KCNB1 3745 broad.mit.edu 37 20 47991509 47991509 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr20:47991509G>A ENST00000371741.4 - 2 754 c.588C>T c.(586-588)atC>atT p.I196I NM_004975.2 NP_004966.1 Q14721 KCNB1_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 1 196 energy reserve metabolic process|regulation of insulin secretion voltage-gated potassium channel complex protein binding|voltage-gated potassium channel activity central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1) 53 BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) CGATGAACATGATGGAAATTA 0.517000 18 32 0 0 1 0 0 RFPL1 5988 broad.mit.edu 37 22 29834827 29834827 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr22:29834827G>A ENST00000354373.2 + 1 256 c.47G>A c.(46-48)gGa>gAa p.G16E RFPL1S_ENST00000461286.2_RNA NM_021026.2 NP_066306.2 O75677 RFPL1_HUMAN ret finger protein-like 1 16 zinc ion binding endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 16 TCACCTCACGGAAATTTTCTT 0.463000 45 74 0 0 1 0 0 TMEM201 199953 broad.mit.edu 37 1 9657024 9657024 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:9657024G>A ENST00000340305.5 + 3 351 c.342G>A c.(340-342)gtG>gtA p.V114V TMEM201_ENST00000377376.4_Silent_p.V114V|TMEM201_ENST00000340381.6_Silent_p.V114V NM_001010866.3 NP_001010866.1 Q5SNT2 TM201_HUMAN transmembrane protein 201 114 integral to membrane|nuclear inner membrane lung(3)|upper_aerodigestive_tract(1) 4 all_lung(157;0.222) all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419) AGCAGTGGGTGAGCAGCCAAG 0.652000 15 46 0 0 1 0 0 FKRP 79147 broad.mit.edu 37 19 47259974 47259974 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:47259974C>T ENST00000318584.5 + 4 1564 c.1267C>T c.(1267-1269)Cgc>Tgc p.R423C FKRP_ENST00000391909.3_Missense_Mutation_p.R423C|FKRP_ENST00000600646.1_Intron NM_001039885.2|NM_024301.4 NP_001034974.1|NP_077277.1 Q9H9S5 FKRP_HUMAN fukutin related protein 423 extracellular space|Golgi apparatus|rough endoplasmic reticulum|sarcolemma transferase activity NS(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 7 all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336) CTTCTACCCCCGCAATGGCGT 0.637000 4 7 0 0 1 0 0 RXFP2 122042 broad.mit.edu 37 13 32367008 32367008 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr13:32367008C>T ENST00000298386.2 + 16 1640 c.1569C>T c.(1567-1569)gtC>gtT p.V523V RXFP2_ENST00000380314.1_Silent_p.V499V NM_130806.3 NP_570718.1 Q8WXD0 RXFP2_HUMAN relaxin/insulin-like family peptide receptor 2 523 integral to membrane|plasma membrane cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1) 33 Lung SC(185;0.0262) all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535) AGTTCCTGGTCATTGTCTTCC 0.502000 19 24 0 0 1 0 0 CD93 22918 broad.mit.edu 37 20 23065569 23065569 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr20:23065569C>T ENST00000246006.4 - 1 1408 c.1261G>A c.(1261-1263)Gac>Aac p.D421N NM_012072.3 NP_036204.2 Q9NPY3 C1QR1_HUMAN CD93 molecule 421 EGF-like 4; calcium-binding (Potential). cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis plasma membrane calcium ion binding|complement component C1q binding|receptor activity|sugar binding NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118) TGAGTCCCGTCCTCCCCGGCC 0.642000 34 51 0 0 1 0 0 RELL2 285613 broad.mit.edu 37 5 141018523 141018523 + Splice_Site SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:141018523C>T ENST00000297164.3 + 3 1452 c.250_splice c.e3-1 p.A84_splice RELL2_ENST00000444782.1_Splice_Site_p.A84_splice|RELL2_ENST00000518856.1_Splice_Site_p.A18_splice|RELL2_ENST00000521367.1_Splice_Site_p.A18_splice|RELL2_ENST00000518025.1_Intron NM_173828.4 NP_776189.3 Q8NC24 RELL2_HUMAN RELT-like 2 84 integral to membrane|plasma membrane large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1) 9 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTCCCTCAGCCAATGCTGAGG 0.557000 22 28 0 0 1 0 0 TMPRSS6 164656 broad.mit.edu 37 22 37499343 37499343 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr22:37499343G>A ENST00000381792.2 - 2 255 c.115C>T c.(115-117)Cgg>Tgg p.R39W TMPRSS6_ENST00000442782.2_Missense_Mutation_p.R48W|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.R39W|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.R39W|TMPRSS6_ENST00000346753.3_Missense_Mutation_p.R48W Q8IU80 TMPS6_HUMAN transmembrane protease, serine 6 48 angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis integral to membrane|intracellular|plasma membrane serine-type endopeptidase activity breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3) 40 AGGTAGCCCCGGGCTTTTCTC 0.662000 46 60 0 0 1 0 0 COIL 8161 broad.mit.edu 37 17 55027332 55027332 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:55027332G>A ENST00000240316.4 - 2 1305 c.1271C>T c.(1270-1272)tCc>tTc p.S424F NM_004645.2 NP_004636.1 P38432 COIL_HUMAN coilin 424 2 X 4 AA repeats of S-L-P-A. Cajal body|nucleolus protein C-terminus binding NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1) 15 Breast(9;6.15e-08) TACAACACAGGAAACAGGATG 0.443000 47 76 0 0 1 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37506784 37506784 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:37506784G>A ENST00000374660.1 + 39 3533 c.3434G>A c.(3433-3435)aGt>aAt p.S1145N ANKRD30A_ENST00000602533.1_Missense_Mutation_p.S1026N|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.S1026N Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 1120 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 GAATTGAAGAGTGTAGAAAGT 0.294000 10 28 0 0 1 0 0 CCAR1 55749 broad.mit.edu 37 10 70520823 70520823 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:70520823C>T ENST00000265872.6 + 16 2099 c.1980C>T c.(1978-1980)tcC>tcT p.S660S CCAR1_ENST00000535016.1_Silent_p.S645S|CCAR1_ENST00000543719.1_Silent_p.S645S NM_018237.2 NP_060707.2 Q8IX12 CCAR1_HUMAN cell division cycle and apoptosis regulator 1 660 SAP. apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm|perinuclear region of cytoplasm calcium ion binding|nucleic acid binding|protein binding NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3) 56 GATTAAAATCCCAGTTAATAG 0.363000 34 52 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237798220 237798220 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:237798220G>A ENST00000366574.2 + 44 7037 c.6720G>A c.(6718-6720)ctG>ctA p.L2240L RYR2_ENST00000360064.6_Silent_p.L2238L|RYR2_ENST00000542537.1_Silent_p.L2224L NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 2240 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CAACACCACTGGATGTGGCTG 0.423000 9 4 0 0 1 0 0 PIWIL2 55124 broad.mit.edu 37 8 22173806 22173806 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:22173806G>A ENST00000356766.6 + 19 2405 c.2257G>A c.(2257-2259)Ggc>Agc p.G753S PIWIL2_ENST00000454009.2_Missense_Mutation_p.G753S|PIWIL2_ENST00000521356.1_Missense_Mutation_p.G753S NM_018068.3 NP_060538.2 Q8TC59 PIWL2_HUMAN piwi-like RNA-mediated gene silencing 2 753 Piwi. DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis chromatoid body|pi-body piRNA binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 46 Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707) CCCCAGTAGAGGCATGCGCTC 0.418000 10 26 0 0 1 0 0 ARSD 414 broad.mit.edu 37 X 2827949 2827949 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:2827949G>A ENST00000381154.1 - 8 1282 c.1207C>T c.(1207-1209)Ccg>Tcg p.P403S NM_001669.3 NP_001660.2 P51689 ARSD_HUMAN arylsulfatase D 403 lysosome arylsulfatase activity|metal ion binding large_intestine(3)|lung(3) 6 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) CGGCCGGCCGGGAGCACCCCC 0.627000 23 41 0 0 1 0 0 SNORA71B 26776 broad.mit.edu 37 20 37053898 37053898 + RNA SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr20:37053898G>A ENST00000364546.1 - 0 81 TTCAAACACGGGGAAGCGCTT 0.498000 31 70 0 0 1 0 0 NEBL 10529 broad.mit.edu 37 10 21097456 21097456 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:21097456C>T ENST00000377122.4 - 26 3140 c.2744G>A c.(2743-2745)aGa>aAa p.R915K NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron NM_006393.2 NP_006384.1 O76041 NEBL_HUMAN nebulette 915 Linker. regulation of actin filament length actin binding|structural constituent of muscle NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 70 ATCAGACGGTCTTGTTACCTC 0.413000 31 51 0 0 1 0 0 DDX6 1656 broad.mit.edu 37 11 118638972 118638972 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:118638972G>A ENST00000264018.4 - 5 763 c.458C>T c.(457-459)cCc>cTc p.P153L DDX6_ENST00000534980.1_Missense_Mutation_p.P153L|DDX6_ENST00000526070.2_Missense_Mutation_p.P153L NM_004397.4 NP_004388.2 P26196 DDX6_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 6 153 Helicase ATP-binding. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1) 13 all_hematologic(175;0.0839) Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103) OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377) TTCAAGTAAGGGAATGAGGTA 0.403000 T IGH@ B-NHL 10 21 0 0 1 0 0 NPPA 4878 broad.mit.edu 37 1 11907258 11907258 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:11907258G>A ENST00000376480.3 - 2 460 c.362C>T c.(361-363)gCc>gTc p.A121V NPPA-AS1_ENST00000400892.2_RNA|NPPA_ENST00000376476.1_Missense_Mutation_p.A71V|NPPA-AS1_ENST00000446542.1_RNA NM_006172.3 NP_006163.1 P01160 ANF_HUMAN natriuretic peptide A 121 cGMP biosynthetic process|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size extracellular region hormone activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 10 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GCTCCGAGGGGCAGTGAGCAG 0.642000 73 88 0 0 1 0 0 IRAK1 3654 broad.mit.edu 37 X 153282473 153282473 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:153282473G>A ENST00000369980.3 - 8 1122 c.955C>T c.(955-957)Ctt>Ttt p.L319F IRAK1_ENST00000477274.1_5'UTR|IRAK1_ENST00000393687.2_Missense_Mutation_p.L319F|IRAK1_ENST00000393682.1_Missense_Mutation_p.L345F|IRAK1_ENST00000429936.2_Missense_Mutation_p.L345F|IRAK1_ENST00000369974.2_Missense_Mutation_p.L319F NM_001025242.1|NM_001569.3 NP_001020413.1|NP_001560.2 P51617 IRAK1_HUMAN interleukin-1 receptor-associated kinase 1 319 Protein kinase. activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|lipopolysaccharide-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transmembrane receptor protein serine/threonine kinase signaling pathway cytosol|endosome membrane|interleukin-1 receptor complex ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2) 25 all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GTACCCAGAAGGATGTCCAGT 0.612000 58 119 0 0 1 0 0 RBM42 79171 broad.mit.edu 37 19 36125269 36125269 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:36125269G>A ENST00000262633.4 + 8 1234 c.1129G>A c.(1129-1131)Gat>Aat p.D377N RBM42_ENST00000592202.1_Missense_Mutation_p.D323N|RBM42_ENST00000588161.1_Missense_Mutation_p.D347N|RBM42_ENST00000589871.1_Missense_Mutation_p.D355N|RBM42_ENST00000360475.4_Missense_Mutation_p.D348N|RBM42_ENST00000589559.1_Missense_Mutation_p.D348N|RBM42_ENST00000586618.1_Intron NM_024321.3 NP_077297.2 Q9BTD8 RBM42_HUMAN RNA binding motif protein 42 377 Necessary for interaction with HNRNPK (By similarity). cytoplasm|nucleus nucleotide binding|RNA binding breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1) 21 all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) GCTGGAGTGGGATGCAGGTAA 0.612000 15 17 0 0 1 0 0 CNKSR2 22866 broad.mit.edu 37 X 21609287 21609287 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:21609287C>T ENST00000425654.2 + 14 2195 c.1715C>T c.(1714-1716)tCc>tTc p.S572F CNKSR2_ENST00000379510.3_Missense_Mutation_p.S602F|CNKSR2_ENST00000543067.1_Missense_Mutation_p.S553F|CNKSR2_ENST00000279451.4_Missense_Mutation_p.S602F NM_001168647.1 NP_001162118.1 Q8WXI2 CNKR2_HUMAN connector enhancer of kinase suppressor of Ras 2 602 PH. regulation of signal transduction cytoplasm|membrane protein binding breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3) 61 AAGGATGCATCCCTTTATTGG 0.353000 50 68 0 0 1 0 0 DUSP27 92235 broad.mit.edu 37 1 167095285 167095285 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:167095285G>A ENST00000361200.2 + 6 1083 c.917G>A c.(916-918)gGg>gAg p.G306E DUSP27_ENST00000485151.1_3'UTR|DUSP27_ENST00000271385.5_Missense_Mutation_p.G306E|DUSP27_ENST00000443333.1_Missense_Mutation_p.G306E Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 (putative) 306 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3) 89 AGCATGCTCGGGGCCAGAGTG 0.657000 6 15 0 0 1 0 0 DOCK8 81704 broad.mit.edu 37 9 406991 406991 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr9:406991C>T ENST00000432829.2 + 28 3564 c.3248C>T c.(3247-3249)tCc>tTc p.S1083F DOCK8_ENST00000469391.1_Missense_Mutation_p.S1051F|DOCK8_ENST00000453981.1_Missense_Mutation_p.S1151F|DOCK8_ENST00000382329.1_Missense_Mutation_p.S618F NM_203447.3 NP_982272.2 Q8NF50 DOCK8_HUMAN dedicator of cytokinesis 8 1151 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 65 all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128) all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942) GATCTGACTTCCGAGTACCGC 0.522000 105 27 0 0 1 0 0 CXADRP3 440224 broad.mit.edu 37 18 14478237 14478237 + RNA SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr18:14478237G>A ENST00000581457.1 - 0 1671 NR_024076.1 ACTTAGATTAGGGGCAGCTAC 0.488000 14 28 0 0 1 0 0 MYH4 4622 broad.mit.edu 37 17 10354709 10354709 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:10354709C>T ENST00000255381.2 - 28 3909 c.3799G>A c.(3799-3801)Gaa>Aaa p.E1267K CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_017533.2 NP_060003.2 Q9Y623 MYH4_HUMAN myosin, heavy chain 4, skeletal muscle 1267 muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 149 TGCTCTTCTTCCTTTGTTTTT 0.423000 27 59 0 0 1 0 0 COL1A2 1278 broad.mit.edu 37 7 94053708 94053708 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:94053708C>T ENST00000297268.6 + 41 3097 c.2626C>T c.(2626-2628)Cct>Tct p.P876S NM_000089.3 NP_000080.2 P08123 CO1A2_HUMAN collagen, type I, alpha 2 876 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) TCTGGGTCTCCCTGGCTCGAG 0.473000 HNSCC(75;0.22) 29 98 0 0 1 0 0 EXOC3L2 90332 broad.mit.edu 37 19 45716410 45716410 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:45716410G>A ENST00000413988.1 - 10 1187 c.1147C>T c.(1147-1149)Ctc>Ttc p.L383F EXOC3L2_ENST00000252482.3_Missense_Mutation_p.L383F|AC006126.3_ENST00000591569.1_Intron NM_138568.3 NP_612635.3 Q2M3D2 EX3L2_HUMAN exocyst complex component 3-like 2 383 endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 12 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00883) AGCCGGGAGAGGGGGAGGCGG 0.701000 4 11 0 0 1 0 0 MTTP 4547 broad.mit.edu 37 4 100530113 100530113 + Missense_Mutation SNP T T C TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr4:100530113T>C ENST00000457717.1 + 13 2004 c.1748T>C c.(1747-1749)cTa>cCa p.L583P MTTP_ENST00000511045.1_Missense_Mutation_p.L610P|RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000265517.5_Missense_Mutation_p.L583P NM_000253.2 NP_000244.2 P55157 MTP_HUMAN microsomal triglyceride transfer protein 583 Vitellogenin. lipid metabolic process|lipoprotein metabolic process endoplasmic reticulum lumen lipid binding|lipid transporter activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1) 57 OV - Ovarian serous cystadenocarcinoma(123;6.04e-09) Hesperetin(DB01094) CAAGACATCCTACGTTTTGAA 0.403000 24 73 0 0 1 0 0 CLVS1 157807 broad.mit.edu 37 8 62212563 62212563 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:62212563G>A ENST00000519846.1 + 3 649 c.177G>A c.(175-177)atG>atA p.M59I CLVS1_ENST00000325897.4_Missense_Mutation_p.M59I|CLVS1_ENST00000518592.1_Intron Q8IUQ0 CLVS1_HUMAN clavesin 1 59 lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 TCAGGGACATGATCATCACCA 0.468000 21 48 0 0 1 0 0 RFPL1 5988 broad.mit.edu 37 22 29834826 29834826 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr22:29834826G>A ENST00000354373.2 + 1 255 c.46G>A c.(46-48)Gga>Aga p.G16R RFPL1S_ENST00000461286.2_RNA NM_021026.2 NP_066306.2 O75677 RFPL1_HUMAN ret finger protein-like 1 16 zinc ion binding endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 16 TTCACCTCACGGAAATTTTCT 0.463000 44 74 0 0 1 0 0 CSPG4 1464 broad.mit.edu 37 15 75979625 75979625 + Nonsense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr15:75979625G>A ENST00000308508.5 - 3 3873 c.3781C>T c.(3781-3783)Cag>Tag p.Q1261* NM_001897.4 NP_001888.2 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 1261 Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity). angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4) 48 ACCTCCAGCTGGTCCCTTCTG 0.612000 63 69 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92086231 92086231 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:92086231G>A ENST00000298047.6 + 1 970 c.953G>A c.(952-954)gGa>gAa p.G318E FAT3_ENST00000541502.1_Missense_Mutation_p.G318E|FAT3_ENST00000525166.1_Missense_Mutation_p.G168E|FAT3_ENST00000409404.2_Missense_Mutation_p.G318E Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 318 Cadherin 3. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) GCTAAGGAAGGAAAGTGGTTG 0.448000 TCGA Ovarian(4;0.039) 15 17 0 0 1 0 0 PCDHA6 56142 broad.mit.edu 37 5 140209543 140209543 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:140209543C>T ENST00000529310.1 + 1 1981 c.1867C>T c.(1867-1869)Cgc>Tgc p.R623C PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron NM_018909.2|NM_031848.1|NM_031849.1 NP_061732.1|NP_114036.1|NP_114037.1 NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTTCCCGTTTCGCGTGGGGCT 0.652000 40 56 0 0 1 0 0 SEMA5B 54437 broad.mit.edu 37 3 122634365 122634365 + Missense_Mutation SNP C C A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:122634365C>A ENST00000195173.4 - 14 2213 c.1910G>T c.(1909-1911)cGa>cTa p.R637L SEMA5B_ENST00000357599.3_Missense_Mutation_p.R637L|SEMA5B_ENST00000451055.2_Missense_Mutation_p.R691L Q9P283 SEM5B_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B 637 cell differentiation|nervous system development integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3) 55 GBM - Glioblastoma multiforme(114;0.0367) ATCACAGGATCGAGCTCGACA 0.607000 30 35 3.73148e-12 3.77784e-12 1 1 0 MUC5B 727897 broad.mit.edu 37 11 1248001 1248001 + Missense_Mutation SNP G G C TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:1248001G>C ENST00000447027.1 + 4 414 c.356G>C c.(355-357)cGc>cCc p.R119P MUC5B_ENST00000529681.1_Missense_Mutation_p.R119P Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 119 VWFD 1. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) GTCCAGCTACGCCGAGGCCTA 0.632000 6 26 0 0 1 0 0 ZBTB45 84878 broad.mit.edu 37 19 59028822 59028822 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:59028822C>T ENST00000594051.1 - 2 699 c.219G>A c.(217-219)ccG>ccA p.P73P ZBTB45_ENST00000354590.3_Silent_p.P73P|ZBTB45_ENST00000600990.1_Silent_p.P73P Q96K62 ZBT45_HUMAN zinc finger and BTB domain containing 45 73 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(3)|lung(5)|urinary_tract(1) 11 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18) CGGGCACCACCGGAGGCACAC 0.662000 OREG0025700 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 27 41 0 0 1 0 0 HAUS7 55559 broad.mit.edu 37 X 152722630 152722630 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:152722630G>A ENST00000421080.2 - 7 1190 c.24C>T c.(22-24)atC>atT p.I8I HAUS7_ENST00000484394.1_5'UTR|TREX2_ENST00000370232.1_5'UTR|HAUS7_ENST00000370212.3_Silent_p.I147I|TREX2_ENST00000338525.2_5'UTR|TREX2_ENST00000330912.2_5'UTR|HAUS7_ENST00000370219.3_Silent_p.I147I|TREX2_ENST00000334497.2_5'UTR|HAUS7_ENST00000370211.4_Silent_p.I137I Q99871 HAUS7_HUMAN HAUS augmin-like complex, subunit 7 147 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|nucleolus|plasma membrane|spindle thioesterase binding endometrium(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3) 19 TCAGGCTCCGGATGGTATCGA 0.572000 26 38 0 0 1 0 0 AXIN2 8313 broad.mit.edu 37 17 63533090 63533090 + Nonsense_Mutation SNP C C A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:63533090C>A ENST00000307078.5 - 7 2117 c.1804G>T c.(1804-1806)Gga>Tga p.G602* AXIN2_ENST00000375702.5_Intron NM_004655.3 NP_004646.3 Q9Y2T1 AXIN2_HUMAN axin 2 602 Missing (in Ref. 2; AAF22799). cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 34 GCCCCAGCTCCGCCGGGGGCC 0.692000 Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome 24 37 3.5997e-14 3.65439e-14 1 1 0 ADCY8 114 broad.mit.edu 37 8 131949383 131949383 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:131949383C>T ENST00000286355.5 - 5 3509 c.1417G>A c.(1417-1419)Gag>Aag p.E473K ADCY8_ENST00000377928.3_Missense_Mutation_p.E473K|RP11-737F9.1_ENST00000523318.1_RNA NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 473 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) TGGCGGGGCTCAGGAAGTCCA 0.502000 HNSCC(32;0.087) 25 40 0 0 1 0 0 APBA2 321 broad.mit.edu 37 15 29393813 29393813 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr15:29393813G>A ENST00000558402.1 + 11 1949 c.1350G>A c.(1348-1350)atG>atA p.M450I APBA2_ENST00000411764.1_Missense_Mutation_p.M438I|APBA2_ENST00000558330.1_Missense_Mutation_p.M438I|APBA2_ENST00000561069.1_Missense_Mutation_p.M450I|APBA2_ENST00000558259.1_Missense_Mutation_p.M450I Q99767 APBA2_HUMAN amyloid beta (A4) precursor protein-binding, family A, member 2 450 PID. nervous system development|protein transport protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1) 59 all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234) all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24) AAACCATGATGGACCACGCCT 0.577000 15 10 0 0 1 0 0 TEX11 56159 broad.mit.edu 37 X 69871334 69871334 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:69871334G>A ENST00000395889.2 - 18 1649 c.1494C>T c.(1492-1494)ttC>ttT p.F498F TEX11_ENST00000344304.3_Silent_p.F498F|TEX11_ENST00000374320.2_Silent_p.F173F|TEX11_ENST00000374333.2_Silent_p.F483F NM_001003811.1 NP_001003811.1 Q8IYF3 TEX11_HUMAN testis expressed 11 498 protein binding breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3) 48 Renal(35;0.156) CTGCAATCTTGAATATATAAA 0.348000 23 33 0 0 1 0 0 DLST 1743 broad.mit.edu 37 14 75348710 75348710 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr14:75348710C>T ENST00000334220.4 + 1 115 c.54C>T c.(52-54)gcC>gcT p.A18A DLST_ENST00000334212.6_5'UTR|DLST_ENST00000555190.1_3'UTR NM_001933.4 NP_001924.2 P36957 ODO2_HUMAN dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex) 18 lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|nucleus dihydrolipoyllysine-residue succinyltransferase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(234;0.00698) CGCTCTCCGCCTTCCAGAAGG 0.731000 7 6 0 0 1 0 0 NLRP11 204801 broad.mit.edu 37 19 56321436 56321436 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:56321436G>A ENST00000443188.1 - 5 1250 c.540C>T c.(538-540)atC>atT p.I180I NLRP11_ENST00000360133.3_Silent_p.I180I|NLRP11_ENST00000592953.1_Silent_p.I81I|NLRP11_ENST00000589093.1_Silent_p.I180I|NLRP11_ENST00000589824.2_Silent_p.I180I NM_145007.3 NP_659444.2 P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 180 NACHT. ATP binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 66 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) CGACGTACGAGATCATGTTCT 0.498000 12 25 0 0 1 0 0 MIR517C 574492 broad.mit.edu 37 19 54244633 54244633 + RNA SNP C C A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:54244633C>A ENST00000385103.1 + 0 67 NR_030214.1 ATCGTGCATCCTTTTAGAGTG 0.413000 18 35 1.55795e-14 1.5821e-14 1 1 0 KIAA0922 23240 broad.mit.edu 37 4 154553967 154553967 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr4:154553967G>A ENST00000409663.3 + 32 4354 c.4302G>A c.(4300-4302)caG>caA p.Q1434Q KIAA0922_ENST00000440693.1_Silent_p.Q1351Q|KIAA0922_ENST00000409959.3_Silent_p.Q1435Q NM_015196.3 NP_056011.3 A2VDJ0 T131L_HUMAN KIAA0922 1434 integral to membrane breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 all_hematologic(180;0.093) Renal(120;0.118) GTGTGATTCAGGAGTCGGCCC 0.512000 23 38 0 0 1 0 0 SKI 6497 broad.mit.edu 37 1 2160703 2160703 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:2160703C>T ENST00000378536.4 + 1 570 c.498C>T c.(496-498)atC>atT p.I166I NM_003036.3 NP_003027.1 P12755 SKI_HUMAN v-ski avian sarcoma viral oncogene homolog 166 anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway cytoplasm|PML body|transcription factor complex|transcriptional repressor complex histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.I166I(1) central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1) 10 all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207) TCATGGGCATCCTGCCCTTCT 0.667000 3 11 0 0 1 0 0 SYCP1 6847 broad.mit.edu 37 1 115455673 115455673 + Missense_Mutation SNP A A G TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:115455673A>G ENST00000369522.3 + 19 1789 c.1549A>G c.(1549-1551)Act>Gct p.T517A SYCP1_ENST00000369518.1_Missense_Mutation_p.T517A NM_003176.2 NP_003167.2 Q15431 SYCP1_HUMAN synaptonemal complex protein 1 517 LTSHCNKLSLENK -> YFTLQQASPPPN (in Ref. 2; BAA22586). cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly DNA binding RGS22/SYCP1(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 48 Lung SC(450;0.211) all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) TACTGAATTAACTTCACACTG 0.284000 30 35 0 0 1 0 0 ZNF74 7625 broad.mit.edu 37 22 20761140 20761140 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr22:20761140G>A ENST00000400451.2 + 5 2331 c.1817G>A c.(1816-1818)gGg>gAg p.G606E ZNF74_ENST00000356671.5_Missense_Mutation_p.G606E|ZNF74_ENST00000405993.1_Missense_Mutation_p.G574E|ZNF74_ENST00000403682.3_3'UTR|ZNF74_ENST00000357502.5_3'UTR NM_003426.3 NP_003417.2 Q16587 ZNF74_HUMAN zinc finger protein 74 606 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent actin cytoskeleton|nucleus DNA binding|RNA binding|zinc ion binding central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 19 Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219) Lung SC(17;0.0262)|all_lung(157;0.248) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) ctgggtgcaggggatgctgga 0.617000 16 36 0 0 1 0 0 CHD9 80205 broad.mit.edu 37 16 53342629 53342629 + Missense_Mutation SNP A A G TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr16:53342629A>G ENST00000566029.1 + 34 7246 c.7037A>G c.(7036-7038)cAa>cGa p.Q2346R CHD9_ENST00000398510.3_Missense_Mutation_p.Q2362R|CHD9_ENST00000564845.1_Missense_Mutation_p.Q2346R|CHD9_ENST00000447540.1_Missense_Mutation_p.Q2347R Q3L8U1 CHD9_HUMAN chromodomain helicase DNA binding protein 9 2362 Binds A/T-rich DNA. cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 78 all_cancers(37;0.0212) TTTCAGAAGCAAGGGCTTGCT 0.418000 9 6 0 0 1 0 0 TM9SF2 9375 broad.mit.edu 37 13 100181843 100181843 + Missense_Mutation SNP T T A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr13:100181843T>A ENST00000376387.4 + 4 646 c.456T>A c.(454-456)caT>caA p.H152Q TM9SF2_ENST00000463709.1_3'UTR NM_004800.1 NP_004791.1 Q99805 TM9S2_HUMAN transmembrane 9 superfamily member 2 152 transport endosome membrane|integral to plasma membrane endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2) 17 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218) ATTATCAACATCACTGGTAAG 0.294000 26 53 0 0 1 0 0 COL17A1 1308 broad.mit.edu 37 10 105801294 105801294 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:105801294C>T ENST00000353479.5 - 37 2844 c.2554G>A c.(2554-2556)Gtt>Att p.V852I COL17A1_ENST00000369733.3_Missense_Mutation_p.V852I NM_000494.3 NP_000485.3 Q9UMD9 COHA1_HUMAN collagen, type XVII, alpha 1 852 Triple-helical region. cell-matrix adhesion|epidermis development|hemidesmosome assembly basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane protein binding NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 62 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) AAATTAAGAACTTCTATAGAG 0.542000 12 16 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9062673 9062673 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:9062673G>A ENST00000397910.4 - 3 24976 c.24773C>T c.(24772-24774)tCc>tTc p.S8258F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 8260 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TTCCACAGAGGATTGACTAGG 0.502000 16 13 0 0 1 0 0 CACNA1B 774 broad.mit.edu 37 9 141016177 141016177 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr9:141016177C>T ENST00000277549.5 + 47 6897 c.4328C>T c.(4327-4329)gCc>gTc p.A1443V CACNA1B_ENST00000371363.1_Missense_Mutation_p.A2247V|CACNA1B_ENST00000371357.1_Missense_Mutation_p.A2248V|CACNA1B_ENST00000277551.2_Missense_Mutation_p.P2187S|CACNA1B_ENST00000371355.4_Missense_Mutation_p.A2250V|CACNA1B_ENST00000371372.1_Missense_Mutation_p.A2249V Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, alpha 1B subunit 2249 membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2) 80 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) CAGCCCCTGGCCCCTGGCTCT 0.657000 37 15 0 0 1 0 0 SLCO1B1 10599 broad.mit.edu 37 12 21370150 21370150 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:21370150G>A ENST00000256958.2 + 12 1691 c.1595G>A c.(1594-1596)aGg>aAg p.R532K NM_006446.4 NP_006437.3 Q9Y6L6 SO1B1_HUMAN solute carrier organic anion transporter family, member 1B1 532 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) GCTTGTACAAGGAAATTTTAC 0.378000 23 39 0 0 1 0 0 PRAMEF1 65121 broad.mit.edu 37 1 12854112 12854112 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:12854112C>T ENST00000332296.7 + 3 439 c.336C>T c.(334-336)ttC>ttT p.F112F NM_023013.2 NP_075389.1 O95521 PRAM1_HUMAN PRAME family member 1 112 cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 35 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) ACGAGAATTTCTGGGCCAGAT 0.547000 27 234 0 0 1 0 0 ZFYVE28 57732 broad.mit.edu 37 4 2274909 2274909 + Missense_Mutation SNP A A C TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr4:2274909A>C ENST00000290974.2 - 10 2653 c.2314T>G c.(2314-2316)Tta>Gta p.L772V ZFYVE28_ENST00000515312.1_Missense_Mutation_p.L702V|ZFYVE28_ENST00000511071.1_Missense_Mutation_p.L742V|ZFYVE28_ENST00000508471.1_Missense_Mutation_p.L77V NM_020972.2 NP_066023.2 Q9HCC9 LST2_HUMAN zinc finger, FYVE domain containing 28 772 negative regulation of epidermal growth factor receptor activity cytosol|early endosome membrane metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4) 31 CCCTTCCTTAACTTTTCCTTG 0.552000 19 66 0 0 1 0 0 TUBAL3 79861 broad.mit.edu 37 10 5437377 5437377 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:5437377C>T ENST00000380419.3 - 3 346 c.309G>A c.(307-309)aaG>aaA p.K103K TUBAL3_ENST00000479328.1_Silent_p.K63K NM_024803.2 NP_079079.1 A6NHL2 TBAL3_HUMAN tubulin, alpha-like 3 103 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3) 25 CAGCATCCTCCTTTCCGCTAA 0.607000 56 99 0 0 1 0 0 OSBPL10 114884 broad.mit.edu 37 3 31871625 31871625 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:31871625G>A ENST00000396556.2 - 4 758 c.636C>T c.(634-636)gcC>gcT p.A212A OSBPL10_ENST00000467647.1_5'UTR|OSBPL10_ENST00000438237.2_Intron NM_017784.4 NP_060254.2 Q9BXB5 OSB10_HUMAN oxysterol binding protein-like 10 212 lipid transport lipid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 STAD - Stomach adenocarcinoma(1;0.00406) CAACACCGGGGGCCCCCACAC 0.582000 16 30 0 0 1 0 0 PDZRN3 23024 broad.mit.edu 37 3 73433280 73433280 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:73433280C>T ENST00000263666.4 - 10 2551 c.2437G>A c.(2437-2439)Gaa>Aaa p.E813K PDZRN3_ENST00000479530.1_Missense_Mutation_p.E530K|PDZRN3_ENST00000462146.2_Missense_Mutation_p.E470K|PDZRN3_ENST00000466780.1_Missense_Mutation_p.E470K|PDZRN3_ENST00000535920.1_Missense_Mutation_p.E535K NM_015009.1 NP_055824.1 Q9UPQ7 PZRN3_HUMAN PDZ domain containing ring finger 3 813 ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236) BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134) TCGGGATCTTCCGTGATGGAG 0.652000 21 56 0 0 1 0 0 LAMB3 3914 broad.mit.edu 37 1 209791281 209791281 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:209791281G>A ENST00000391911.1 - 19 3411 c.3022C>T c.(3022-3024)Ctt>Ttt p.L1008F LAMB3_ENST00000356082.4_Missense_Mutation_p.L1008F|LAMB3_ENST00000367030.3_Missense_Mutation_p.L1008F NM_001017402.1 NP_001017402.1 Q13751 LAMB3_HUMAN laminin, beta 3 1008 Domain I. cell adhesion|epidermis development|hemidesmosome assembly structural molecule activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 OV - Ovarian serous cystadenocarcinoma(81;0.0519) ATAAGCCGAAGGGAGCGGCTG 0.567000 19 52 0 0 1 0 0 ZMYND11 10771 broad.mit.edu 37 10 255963 255963 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:255963G>A ENST00000397962.3 + 3 679 c.251G>A c.(250-252)gGa>gAa p.G84E ZMYND11_ENST00000403354.1_Missense_Mutation_p.G84E|ZMYND11_ENST00000509513.2_Missense_Mutation_p.G84E|ZMYND11_ENST00000397959.3_Missense_Mutation_p.G84E|ZMYND11_ENST00000381584.1_Missense_Mutation_p.G67E|ZMYND11_ENST00000602682.1_Missense_Mutation_p.G84E|ZMYND11_ENST00000381607.4_Missense_Mutation_p.G44E|ZMYND11_ENST00000535374.1_5'UTR|ZMYND11_ENST00000402736.1_Missense_Mutation_p.G84E|ZMYND11_ENST00000381604.4_Missense_Mutation_p.G44E|ZMYND11_ENST00000381602.4_Missense_Mutation_p.G44E|ZMYND11_ENST00000381591.1_Missense_Mutation_p.G84E|ZMYND11_ENST00000309776.4_Missense_Mutation_p.G44E|ZMYND11_ENST00000545619.1_Missense_Mutation_p.G44E|ZMYND11_ENST00000558098.2_Missense_Mutation_p.G84E Q15326 ZMY11_HUMAN zinc finger, MYND-type containing 11 44 cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2) 24 all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14) OV - Ovarian serous cystadenocarcinoma(33;0.132) Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106) GAACAAGAAGGATATTGGTTG 0.373000 33 70 0 0 1 0 0 OR2T8 343172 broad.mit.edu 37 1 248084355 248084355 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:248084355C>T ENST00000319968.4 + 1 36 c.36C>T c.(34-36)ctC>ctT p.L12L NM_001005522.1 NP_001005522.1 A6NH00 OR2T8_HUMAN olfactory receptor, family 2, subfamily T, member 8 12 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 34 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0211) OV - Ovarian serous cystadenocarcinoma(106;0.0319) ATTTCATTCTCCTAGGACTCT 0.413000 27 37 0 0 1 0 0 MSC 9242 broad.mit.edu 37 8 72756324 72756324 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:72756324G>A ENST00000325509.4 - 1 379 c.90C>T c.(88-90)ccC>ccT p.P30P RP11-383H13.1_ENST00000521467.1_Intron|RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000537896.1_Intron NM_005098.3 NP_005089.2 O60682 MUSC_HUMAN musculin 30 transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2) 26 Breast(64;0.176) Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203) CGCCGCGGAGGGGCGGCCTCT 0.706000 10 12 0 0 1 0 0 KIAA1210 57481 broad.mit.edu 37 X 118281446 118281446 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:118281446C>T ENST00000402510.2 - 2 399 c.400G>A c.(400-402)Gat>Aat p.D134N NM_020721.1 NP_065772.1 Q9ULL0 K1210_HUMAN KIAA1210 134 breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 64 TTTCCTGAATCCTGTTCTTGG 0.502000 20 26 0 0 1 0 0 MMP16 4325 broad.mit.edu 37 8 89179954 89179954 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:89179954C>T ENST00000286614.6 - 4 934 c.653G>A c.(652-654)gGa>gAa p.G218E MMP16_ENST00000544227.1_5'UTR NM_005941.4 NP_005932.2 P51512 MMP16_HUMAN matrix metallopeptidase 16 (membrane-inserted) 218 collagen catabolic process|proteolysis cell surface|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 81 ATGGGTATCTCCTCCAATTCC 0.408000 28 39 0 0 1 0 0 FAM47A 158724 broad.mit.edu 37 X 34149012 34149012 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:34149012G>A ENST00000346193.3 - 1 1435 c.1384C>T c.(1384-1386)Cct>Tct p.P462S NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 462 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 TCCCCACAAGGGGATTTATGA 0.592000 22 56 0 0 1 0 0 CNOT11 55571 broad.mit.edu 37 2 101881467 101881467 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:101881467C>T ENST00000289382.3 + 4 1156 c.993C>T c.(991-993)gcC>gcT p.A331A NM_017546.4 NP_060016.3 CCR4-NOT transcription complex, subunit 11 GAATAATGGCCAAAGCCTTCA 0.393000 29 61 0 0 1 0 0 SLC9A7P1 121456 broad.mit.edu 37 12 98849634 98849634 + RNA SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:98849634C>T ENST00000554295.1 - 0 1289 NR_033801.1 GCGCCAGGATCATGCAGGAGA 0.478000 46 7 0 0 1 0 0 C1orf146 388649 broad.mit.edu 37 1 92707815 92707815 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:92707815G>A ENST00000370375.3 + 3 261 c.113G>A c.(112-114)cGa>cAa p.R38Q C1orf146_ENST00000370373.2_5'UTR NM_001012425.1 NP_001012425.1 Q5VVC0 CA146_HUMAN chromosome 1 open reading frame 146 38 breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1) 8 all_lung(203;0.00528)|Lung NSC(277;0.0193) all cancers(265;0.00846)|Epithelial(280;0.0952) CACAAAGTTCGATATTCAGAT 0.299000 16 27 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158614052 158614052 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:158614052G>A ENST00000368148.3 - 30 4509 c.4329C>T c.(4327-4329)atC>atT p.I1443I SPTA1_ENST00000368147.3_Silent_p.I1443I NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 1443 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) CCTGGGCAGTGATTGCTTTGT 0.373000 22 27 0 0 1 0 0 POMC 5443 broad.mit.edu 37 2 25384196 25384196 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:25384196C>T ENST00000405623.1 - 3 1013 c.558G>A c.(556-558)cgG>cgA p.R186R POMC_ENST00000264708.3_Silent_p.R186R|POMC_ENST00000395826.2_Silent_p.R186R|POMC_ENST00000380794.1_Silent_p.R186R P01189 COLI_HUMAN proopiomelanocortin 186 cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure extracellular space|stored secretory granule hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1) 12 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108) CATCTCCCTCCCGGAGTCGCT 0.711000 9 12 0 0 1 0 0 LIPE 3991 broad.mit.edu 37 19 42906968 42906968 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:42906968C>T ENST00000244289.4 - 9 3034 c.2758G>A c.(2758-2760)Gaa>Aaa p.E920K LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000599276.1_RNA NM_005357.2 NP_005348.2 Q05469 LIPS_HUMAN lipase, hormone-sensitive 920 cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process caveola|cytosol hormone-sensitive lipase activity|protein binding breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 32 Prostate(69;0.00682) TCAGCCTCTTCCCCTGCATCC 0.627000 27 35 0 0 1 0 0 WARS 7453 broad.mit.edu 37 14 100826920 100826920 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr14:100826920G>A ENST00000355338.2 - 4 1011 c.393C>T c.(391-393)ttC>ttT p.F131F WARS_ENST00000556645.1_Silent_p.F90F|WARS_ENST00000392882.2_Silent_p.F131F|WARS_ENST00000344102.5_Silent_p.F90F|WARS_ENST00000358655.4_Silent_p.F90F|WARS_ENST00000557135.1_Silent_p.F131F|WARS_ENST00000554084.1_5'UTR NM_173701.1 NP_776049.1 P23381 SYWC_HUMAN tryptophanyl-tRNA synthetase 131 angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation cytosol|soluble fraction ATP binding|protein binding|tryptophan-tRNA ligase activity breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1) 20 all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152) L-Tryptophan(DB00150) CTCTGCGCAGGAAGTGGTGTG 0.448000 33 68 0 0 1 0 0 MEGF8 1954 broad.mit.edu 37 19 42862972 42862972 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:42862972C>T ENST00000334370.4 + 29 5643 c.5008C>T c.(5008-5010)Cgg>Tgg p.R1670W MEGF8_ENST00000251268.6_Missense_Mutation_p.R1737W NM_001410.2 NP_001401.2 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 1737 integral to membrane calcium ion binding|structural molecule activity breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 Prostate(69;0.00682) TGGCTCATCTCGGGGTCTGGG 0.617000 10 11 0 0 1 0 0 BTN2A2 10385 broad.mit.edu 37 6 26384039 26384039 + Translation_Start_Site SNP C C A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr6:26384039C>A ENST00000356709.4 + 0 101 BTN2A2_ENST00000352867.2_De_novo_Start_OutOfFrame|BTN2A2_ENST00000469230.1_De_novo_Start_OutOfFrame|BTN2A2_ENST00000416795.2_De_novo_Start_OutOfFrame|BTN2A2_ENST00000432533.2_De_novo_Start_OutOfFrame|BTN2A2_ENST00000482536.1_De_novo_Start_OutOfFrame NM_001197240.1|NM_006995.4 NP_001184169.1|NP_008926.2 Q8WVV5 BT2A2_HUMAN butyrophilin, subfamily 2, member A2 negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion integral to membrane breast(2)|endometrium(3)|large_intestine(5)|lung(13) 23 CTCTGCCTGCCCTGGGTGCTC 0.612000 34 28 9.85521e-28 1.00815e-27 1 1 0 BRDT 676 broad.mit.edu 37 1 92446708 92446708 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:92446708C>T ENST00000370389.2 + 10 2428 c.1504C>T c.(1504-1506)Cta>Tta p.L502L BRDT_ENST00000362005.3_Silent_p.L575L|BRDT_ENST00000394530.3_Silent_p.L529L|BRDT_ENST00000402388.1_Silent_p.L575L|BRDT_ENST00000399546.2_Silent_p.L575L NM_001242810.1 NP_001229739.1 Q58F21 BRDT_HUMAN bromodomain, testis-specific 575 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein serine/threonine kinase activity|transcription coactivator activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2) 56 all_lung(203;0.00531)|Lung NSC(277;0.0194) all cancers(265;0.0228)|Epithelial(280;0.133) TTCGGCATGTCTAAGAAAGAG 0.348000 29 31 0 0 1 0 0 DPP4 1803 broad.mit.edu 37 2 162903514 162903514 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:162903514G>A ENST00000360534.3 - 4 756 c.196C>T c.(196-198)Cat>Tat p.H66Y NM_001935.3 NP_001926.2 P27487 DPP4_HUMAN dipeptidyl-peptidase 4 66 cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 48 Sitagliptin(DB01261) AGATATTCATGATCTAAAGAG 0.294000 15 22 0 0 1 0 0 JAKMIP1 152789 broad.mit.edu 37 4 6055743 6055743 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr4:6055743C>T ENST00000282924.5 - 13 2325 c.1840G>A c.(1840-1842)Gga>Aga p.G614R JAKMIP1_ENST00000409371.3_Intron|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.G614R|JAKMIP1_ENST00000410077.2_Missense_Mutation_p.G449R|JAKMIP1_ENST00000409021.3_Intron NM_144720.3 NP_653321.1 Q96N16 JKIP1_HUMAN janus kinase and microtubule interacting protein 1 614 Mediates interaction with TYK2 and GABBR1. protein transport cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex GABA receptor binding|RNA binding NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 ATGTCTGCTCCGTTTGAGAGT 0.388000 25 91 0 0 1 0 0 TRPM4 54795 broad.mit.edu 37 19 49692330 49692330 + Silent SNP T T C TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:49692330T>C ENST00000252826.5 + 14 2127 c.2001T>C c.(1999-2001)ttT>ttC p.F667F TRPM4_ENST00000427978.2_Silent_p.F667F|TRPM4_ENST00000355712.5_Silent_p.F313F NM_017636.3 NP_060106.2 Q8TD43 TRPM4_HUMAN transient receptor potential cation channel, subfamily M, member 4 667 dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane ATP binding|calcium activated cation channel activity|calmodulin binding breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 49 all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15) all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751) GTGCCTTCTTTGCCCAGGATG 0.622000 25 46 0 0 1 0 0 KIAA1407 57577 broad.mit.edu 37 3 113723455 113723455 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:113723455C>T ENST00000545063.1 - 11 2154 c.1500G>A c.(1498-1500)gtG>gtA p.V500V KIAA1407_ENST00000295878.3_Intron Q8NCU4 K1407_HUMAN KIAA1407 0 endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1) 40 AGATAACAACCACCAAGGCCA 0.463000 36 62 0 0 1 0 0 SORCS1 114815 broad.mit.edu 37 10 108431074 108431074 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:108431074C>T ENST00000263054.6 - 16 2117 c.2110G>A c.(2110-2112)Gag>Aag p.E704K SORCS1_ENST00000344440.6_Missense_Mutation_p.E704K|SORCS1_ENST00000369698.1_Missense_Mutation_p.E239K NM_001206570.1|NM_052918.4 NP_001193499.1|NP_443150.3 Q8WY21 SORC1_HUMAN sortilin-related VPS10 domain containing receptor 1 704 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) CACTTCCGCTCTGATTTTCGC 0.438000 44 63 0 0 1 0 0 HELLS 3070 broad.mit.edu 37 10 96342814 96342814 + Nonsense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:96342814C>T ENST00000348459.5 + 12 1429 c.1324C>T c.(1324-1326)Cag>Tag p.Q442* HELLS_ENST00000394036.1_3'UTR|HELLS_ENST00000239026.6_3'UTR|HELLS_ENST00000394045.1_Intron|RP11-119K6.6_ENST00000432120.1_RNA|HELLS_ENST00000371332.4_Nonsense_Mutation_p.Q442* NM_018063.3 NP_060533.2 Q9NRZ9 HELLS_HUMAN helicase, lymphoid-specific 442 cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent centromeric heterochromatin|nucleus ATP binding|DNA binding|helicase activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 22 Colorectal(252;0.0429) all cancers(201;2.13e-05) TATGCTGCACCAGGTTTTCCA 0.378000 29 43 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92531002 92531002 + Splice_Site SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:92531002G>A ENST00000298047.6 + 9 4840 c.4822_splice c.e9-1 p.G1608_splice FAT3_ENST00000525166.1_Splice_Site_p.G1458_splice|FAT3_ENST00000409404.2_Splice_Site_p.G1608_splice Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 1608 Cadherin 15. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) TGTATTTTAGGGAACACTGGG 0.408000 TCGA Ovarian(4;0.039) 39 44 0 0 1 0 0 NES 10763 broad.mit.edu 37 1 156639725 156639725 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:156639725C>T ENST00000368223.3 - 4 4387 c.4255G>A c.(4255-4257)Ggg>Agg p.G1419R NM_006617.1 NP_006608.1 P48681 NEST_HUMAN nestin 1419 Tail. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4) 64 all_hematologic(923;0.088)|Hepatocellular(266;0.158) ccctcctccccactttcttcc 0.652000 11 22 0 0 1 0 0 CNOT4 4850 broad.mit.edu 37 7 135069477 135069477 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:135069477G>A ENST00000414802.1 - 10 1251 c.1252C>T c.(1252-1254)Ctt>Ttt p.L418F CNOT4_ENST00000473470.1_Intron|CNOT4_ENST00000361528.4_Intron|CNOT4_ENST00000451834.1_Intron|CNOT4_ENST00000356162.4_Missense_Mutation_p.L418F|CNOT4_ENST00000541284.1_Intron|CNOT4_ENST00000423368.2_Intron O95628 CNOT4_HUMAN CCR4-NOT transcription complex, subunit 4 418 nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1) 22 ggctctgtaaggtctgccttt 0.413000 11 15 0 0 1 0 0 ATP9B 374868 broad.mit.edu 37 18 77134009 77134009 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr18:77134009C>T ENST00000426216.2 + 28 3199 c.3182C>T c.(3181-3183)aCc>aTc p.T1061I ATP9B_ENST00000543761.1_Missense_Mutation_p.T382I|ATP9B_ENST00000307671.7_Missense_Mutation_p.T1061I NM_198531.3 NP_940933.3 O43861 ATP9B_HUMAN ATPase, class II, type 9B 1061 ATP biosynthetic process integral to membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1) 38 Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171) OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405) GTGGCGCTGACCGTCCGCACG 0.567000 23 52 0 0 1 0 0 KIAA0586 9786 broad.mit.edu 37 14 58917345 58917345 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr14:58917345C>T ENST00000423743.3 + 9 1136 c.878C>T c.(877-879)cCt>cTt p.P293L KIAA0586_ENST00000261244.5_Missense_Mutation_p.P337L|KIAA0586_ENST00000556134.1_Missense_Mutation_p.P322L|KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000354386.6_Missense_Mutation_p.P390L NM_001244191.1|NM_001244192.1 NP_001231120.1|NP_001231121.1 E9PGW8 E9PGW8_HUMAN KIAA0586 337 p.P337L(1) endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 CAGAAATCTCCTTTGGAGACA 0.323000 14 23 0 0 1 0 0 RBM12B 389677 broad.mit.edu 37 8 94746055 94746055 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:94746055G>A ENST00000399300.2 - 3 2797 c.2584C>T c.(2584-2586)Cct>Tct p.P862S RBM12B_ENST00000520961.1_Intron|RP11-10N23.4_ENST00000517998.1_RNA|RBM12B_ENST00000517700.1_Missense_Mutation_p.P742S NM_203390.2 NP_976324.2 Q8IXT5 RB12B_HUMAN RNA binding motif protein 12B 862 nucleotide binding|RNA binding breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 30 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.0168) AAATTGTCAGGAAGTCTAGGG 0.522000 52 72 0 0 1 0 0 EPB41L1 2036 broad.mit.edu 37 20 34778667 34778667 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr20:34778667C>T ENST00000338074.2 + 11 1409 c.1248C>T c.(1246-1248)ttC>ttT p.F416F EPB41L1_ENST00000373946.3_Silent_p.F385F|EPB41L1_ENST00000373941.1_Silent_p.F416F|EPB41L1_ENST00000441639.1_Silent_p.F354F|EPB41L1_ENST00000202028.5_Silent_p.F354F|EPB41L1_ENST00000373950.2_Silent_p.F319F NM_001258329.1|NM_012156.2 NP_001245258.1|NP_036288.2 Q9H4G0 E41L1_HUMAN erythrocyte membrane protein band 4.1-like 1 416 cortical actin cytoskeleton organization|synaptic transmission cytoskeleton|cytosol|extrinsic to membrane|plasma membrane actin binding|structural molecule activity breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 37 Breast(12;0.0239) CTGCACCCTTCTTTGAGCGTT 0.607000 16 27 0 0 1 0 0 ANXA11 311 broad.mit.edu 37 10 81930562 81930562 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:81930562C>T ENST00000438331.1 - 5 647 c.165G>A c.(163-165)tcG>tcA p.S55S ANXA11_ENST00000537102.1_Silent_p.S22S|ANXA11_ENST00000360615.4_Silent_p.S55S|ANXA11_ENST00000372231.3_Silent_p.S55S|ANXA11_ENST00000265447.4_Silent_p.S55S|ANXA11_ENST00000535999.1_Silent_p.S55S|ANXA11_ENST00000422982.3_Silent_p.S55S NM_145869.1 NP_665876.1 P50995 ANX11_HUMAN annexin A11 55 cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1) 17 Prostate(51;0.00985)|all_epithelial(25;0.0951) Colorectal(32;0.109) TCACCATTCCCGAGAGATAGT 0.642000 24 50 0 0 1 0 0 ADAMTS4 9507 broad.mit.edu 37 1 161163959 161163959 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:161163959G>A ENST00000367996.4 - 5 1742 c.1314C>T c.(1312-1314)ttC>ttT p.F438F ADAMTS4_ENST00000478394.1_5'UTR NM_005099.4 NP_005090.3 O75173 ATS4_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 4 438 Disintegrin. proteolysis|skeletal system development extracellular space|proteinaceous extracellular matrix metalloendopeptidase activity|protease binding|zinc ion binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1) 43 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) CCTTGCCAGGGAAAGTCACAG 0.617000 34 44 0 0 1 0 0 ZNF311 282890 broad.mit.edu 37 6 28964205 28964205 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr6:28964205C>T ENST00000377179.3 - 7 1086 c.574G>A c.(574-576)Gag>Aag p.E192K ZNF311_ENST00000483450.1_5'UTR NM_001010877.2 NP_001010877.2 Q5JNZ3 ZN311_HUMAN zinc finger protein 311 192 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2) 28 CATTGATTCTCTAATTTGACA 0.398000 41 22 0 0 1 0 0 MYT1 4661 broad.mit.edu 37 20 62854480 62854480 + Missense_Mutation SNP T T C TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr20:62854480T>C ENST00000536311.1 + 15 2858 c.2494T>C c.(2494-2496)Tgt>Cgt p.C832R MYT1_ENST00000328439.1_Missense_Mutation_p.C805R|MYT1_ENST00000360149.4_Missense_Mutation_p.C507R Q01538 MYT1_HUMAN myelin transcription factor 1 805 cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) CACCCCTGGCTGTGACGGCAG 0.637000 57 97 0 0 1 0 0 COL11A1 1301 broad.mit.edu 37 1 103481224 103481224 + Splice_Site SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:103481224C>T ENST00000358392.2 - 12 1841 c.1524_splice c.e12+1 p.P508_splice COL11A1_ENST00000512756.1_Splice_Site_p.P380_splice|COL11A1_ENST00000370096.3_Splice_Site_p.P496_splice|COL11A1_ENST00000353414.4_Splice_Site_p.P457_splice NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 496 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) AAGAACATACCGGTAACATCA 0.388000 3 10 0 0 1 0 0 NPC1L1 29881 broad.mit.edu 37 7 44579282 44579282 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:44579282C>T ENST00000289547.4 - 2 769 c.714G>A c.(712-714)gaG>gaA p.E238E NPC1L1_ENST00000546276.1_Silent_p.E238E|NPC1L1_ENST00000381160.3_Silent_p.E238E|NPC1L1_ENST00000423141.1_Silent_p.E238E NM_013389.2 NP_037521.2 Q9UHC9 NPCL1_HUMAN NPC1-like 1 238 cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 57 Ezetimibe(DB00973) GTGCAACCCCCTCATTCAGAG 0.632000 54 59 0 0 1 0 0 MAST4 375449 broad.mit.edu 37 5 66461410 66461410 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:66461410C>T ENST00000404260.3 + 29 6720 c.6412C>T c.(6412-6414)Ccg>Tcg p.P2138S MAST4_ENST00000261569.7_Missense_Mutation_p.P1941S|MAST4_ENST00000403625.2_Missense_Mutation_p.P2135S|MAST4_ENST00000405643.1_Missense_Mutation_p.P1956S|MAST4_ENST00000403666.1_Missense_Mutation_p.P1946S O15021 MAST4_HUMAN microtubule associated serine/threonine kinase family member 4 2138 Pro-rich. cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) CAGCATCCCTCCGCCCCCTCT 0.602000 6 17 0 0 1 0 0 SMG7 9887 broad.mit.edu 37 1 183515292 183515292 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:183515292G>A ENST00000367537.3 + 18 2706 c.2511G>A c.(2509-2511)atG>atA p.M837I SMG7_ENST00000507469.1_Missense_Mutation_p.M808I|SMG7_ENST00000456731.2_Missense_Mutation_p.M766I|SMG7_ENST00000508461.1_Missense_Mutation_p.M812I|SMG7_ENST00000347615.2_Missense_Mutation_p.M854I|SMG7_ENST00000515829.2_Missense_Mutation_p.M808I Q92540 SMG7_HUMAN SMG7 nonsense mediated mRNA decay factor 854 Gln/Pro-rich. mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|intermediate filament cytoskeleton|nucleus protein phosphatase 2A binding breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 CTTTTCCCATGGAGCCATATA 0.453000 17 68 0 0 1 0 0 TMEM202 338949 broad.mit.edu 37 15 72690714 72690714 + Missense_Mutation SNP T T C TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr15:72690714T>C ENST00000341689.3 + 1 101 c.47T>C c.(46-48)gTt>gCt p.V16A TMEM202_ENST00000567679.1_Missense_Mutation_p.V16A NM_001080462.1 NP_001073931.1 A6NGA9 TM202_HUMAN transmembrane protein 202 16 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 18 AGTCCTGAGGTTCCCAAAATA 0.453000 8 18 0 0 1 0 0 PABPC5 140886 broad.mit.edu 37 X 90691537 90691537 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:90691537G>A ENST00000312600.3 + 2 1175 c.961G>A c.(961-963)Gaa>Aaa p.E321K PABPC5_ENST00000373105.1_Missense_Mutation_p.E157K NM_080832.2 NP_543022.1 Q96DU9 PABP5_HUMAN poly(A) binding protein, cytoplasmic 5 321 RRM 4. cytoplasm nucleotide binding|RNA binding central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1) 42 ACTGAAGGAGGAATTTTCTTC 0.438000 33 73 0 0 1 0 0 OR8K1 390157 broad.mit.edu 37 11 56114036 56114036 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:56114036C>T ENST00000279783.2 + 1 616 c.522C>T c.(520-522)ttC>ttT p.F174F NM_001002907.1 NP_001002907.1 Q8NGG5 OR8K1_HUMAN olfactory receptor, family 8, subfamily K, member 1 174 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 Esophageal squamous(21;0.00448) AACTGTCCTTCTGTGGCTCAA 0.353000 HNSCC(65;0.19) 53 74 0 0 1 0 0 ZSCAN2 54993 broad.mit.edu 37 15 85147360 85147360 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr15:85147360G>A ENST00000448803.2 + 2 494 c.202G>A c.(202-204)Gag>Aag p.E68K ZSCAN2_ENST00000538076.1_Missense_Mutation_p.E68K|ZSCAN2_ENST00000327179.6_Missense_Mutation_p.E68K|ZSCAN2_ENST00000541040.1_Missense_Mutation_p.E68K|ZSCAN2_ENST00000546148.1_Missense_Mutation_p.E68K|ZSCAN2_ENST00000485222.2_Missense_Mutation_p.E68K|ZSCAN2_ENST00000334141.3_Missense_Mutation_p.E68K|ZSCAN2_ENST00000358472.3_Intron|ZSCAN2_ENST00000379358.3_Missense_Mutation_p.E68K NM_181877.3 NP_870992.2 Q7Z7L9 ZSCA2_HUMAN zinc finger and SCAN domain containing 2 68 SCAN box. cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1) 19 UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22) CCCCCAGGAGGAGGTGACCAG 0.642000 9 17 0 0 1 0 0 DDR2 4921 broad.mit.edu 37 1 162748417 162748417 + Missense_Mutation SNP G G T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:162748417G>T ENST00000367922.2 + 18 2769 c.2331G>T c.(2329-2331)ttG>ttT p.L777F DDR2_ENST00000367921.3_Missense_Mutation_p.L777F NM_001014796.1 NP_001014796.1 Q16832 DDR2_HUMAN discoidin domain receptor tyrosine kinase 2 777 Protein kinase. cell adhesion integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1) 7 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.113) GGGTTACTTTGTGGGAGACTT 0.443000 42 69 6.68952e-21 6.8285e-21 1 1 0 HAUS5 23354 broad.mit.edu 37 19 36113526 36113526 + Nonsense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:36113526C>T ENST00000203166.5 + 18 1700 c.1675C>T c.(1675-1677)Cag>Tag p.Q559* HAUS5_ENST00000379045.2_3'UTR NM_015302.1 NP_056117.1 O94927 HAUS5_HUMAN HAUS augmin-like complex, subunit 5 559 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2) 16 CCAGGCATCCCAGGAAAAACA 0.557000 15 25 0 0 1 0 0 FAM47B 170062 broad.mit.edu 37 X 34961393 34961393 + Missense_Mutation SNP G G C TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:34961393G>C ENST00000329357.5 + 1 481 c.445G>C c.(445-447)Gtg>Ctg p.V149L NM_152631.2 NP_689844.2 Q8NA70 FA47B_HUMAN family with sequence similarity 47, member B 149 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 CCTACTACAGGTGCTGAAACA 0.557000 32 50 0 0 1 0 0 GABRA6 2559 broad.mit.edu 37 5 161128682 161128682 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:161128682G>A ENST00000523217.1 + 9 1477 c.1235G>A c.(1234-1236)cGa>cAa p.R412Q GABRA6_ENST00000274545.5_Missense_Mutation_p.R422Q NM_000811.2 NP_000802.2 Q16445 GBRA6_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 6 422 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2) 57 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) CAGTATTCTCGAATTCTCTTC 0.458000 TCGA Ovarian(5;0.080) 24 45 0 0 1 0 0 PRDM7 11105 broad.mit.edu 37 16 90141417 90141417 + Nonsense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr16:90141417G>A ENST00000449207.2 - 3 227 c.208C>T c.(208-210)Cga>Tga p.R70* PRDM7_ENST00000569206.1_5'UTR|PRDM7_ENST00000407825.1_5'UTR NM_001098173.1 NP_001091643.1 Q9NQW5 PRDM7_HUMAN PR domain containing 7 70 KRAB-related. chromosome|nucleus nucleic acid binding lung(2)|ovary(2)|stomach(1) 5 all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.0278) AAAGCTGGTCGAGTGGCTCTG 0.493000 16 36 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152285010 152285010 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:152285010C>T ENST00000368799.1 - 3 2387 c.2352G>A c.(2350-2352)ggG>ggA p.G784G FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 784 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) GAGACCTTTCCCCTGACCGGT 0.562000 Ichthyosis 62 223 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237730043 237730043 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:237730043G>A ENST00000366574.2 + 28 3708 c.3391G>A c.(3391-3393)Gat>Aat p.D1131N RYR2_ENST00000360064.6_Missense_Mutation_p.D1129N|RYR2_ENST00000542537.1_Missense_Mutation_p.D1115N NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1131 4 X approximate repeats.|B30.2/SPRY 2. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) GCTTGGCTCAGATGAACGTGC 0.537000 131 30 0 0 1 0 0 CNTN6 27255 broad.mit.edu 37 3 1414581 1414581 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:1414581C>T ENST00000446702.2 + 14 2355 c.1728C>T c.(1726-1728)ctC>ctT p.L576L CNTN6_ENST00000539053.1_Silent_p.L504L|CNTN6_ENST00000350110.2_Silent_p.L576L Q9UQ52 CNTN6_HUMAN contactin 6 576 Ig-like C2-type 6. axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) GAAAATATCTCTGCACAGTAC 0.373000 39 64 0 0 1 0 0 ANXA11 311 broad.mit.edu 37 10 81921761 81921761 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:81921761G>A ENST00000438331.1 - 13 1592 c.1110C>T c.(1108-1110)aaC>aaT p.N370N ANXA11_ENST00000537102.1_Silent_p.N337N|ANXA11_ENST00000360615.4_Silent_p.N370N|ANXA11_ENST00000372231.3_Silent_p.N370N|ANXA11_ENST00000265447.4_Silent_p.N370N|ANXA11_ENST00000535999.1_Silent_p.N370N|ANXA11_ENST00000422982.3_Silent_p.N370N NM_145869.1 NP_665876.1 P50995 ANX11_HUMAN annexin A11 370 cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1) 17 Prostate(51;0.00985)|all_epithelial(25;0.0951) Colorectal(32;0.109) TTCCCAGGCGGTTCTCCCCGG 0.652000 OREG0020322 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 30 31 0 0 1 0 0 EVPL 2125 broad.mit.edu 37 17 74019697 74019697 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:74019697G>A ENST00000301607.3 - 3 490 c.237C>T c.(235-237)caC>caT p.H79H EVPL_ENST00000586740.1_Silent_p.H79H NM_001988.2 NP_001979.2 Q92817 EVPL_HUMAN envoplakin 79 Globular 1. keratinization|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural molecule activity breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 54 TCTCCTGCTGGTGCTGCAGGG 0.687000 4 11 0 0 1 0 0 KRTAP5-4 387267 broad.mit.edu 37 11 1643045 1643045 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:1643045G>A ENST00000399682.1 - 1 323 c.279C>T c.(277-279)tcC>tcT p.S93S NM_001012709.1 NP_001012727.1 Q6L8H1 KRA54_HUMAN keratin associated protein 5-4 93 9 X 4 AA repeats of C-C-X-P. keratin filament NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2) 20 all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) AACCCCCACAGGAGACACAGC 0.687000 12 98 0 0 1 0 0 EMID1 129080 broad.mit.edu 37 22 29621206 29621206 + Splice_Site SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr22:29621206G>A ENST00000334018.6 + 4 591 c.e4+1 EMID1_ENST00000484039.1_Splice_Site|EMID1_ENST00000404755.3_Splice_Site|EMID1_ENST00000404820.3_Splice_Site NM_001267895.1|NM_133455.3 NP_001254824.1|NP_597712.2 Q96A84 EMID1_HUMAN EMI domain containing 1 collagen NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3) 12 GCCTTCTCAGGTGGGTCCTGG 0.622000 24 40 0 0 1 0 0 PRF1 5551 broad.mit.edu 37 10 72357844 72357844 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:72357844C>T ENST00000441259.1 - 3 1793 c.1633G>A c.(1633-1635)Gag>Aag p.E545K PRF1_ENST00000373209.2_Missense_Mutation_p.E545K NM_001083116.1|NM_005041.4 NP_001076585.1|NP_005032.2 P14222 PERF_HUMAN perforin 1 (pore forming protein) 545 apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane calcium ion binding|protein binding|wide pore channel activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3) 23 CCTGGAGGCTCCCCCAGAAGC 0.587000 M """various leukaemia, lymphoma""" Type 2 familial hemophagocytic lymphohistiocytosis Familial Hemophagocytic Lymphohistiocytosis 18 33 0 0 1 0 0 LPIN3 64900 broad.mit.edu 37 20 39977494 39977494 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr20:39977494C>T ENST00000373257.3 + 4 615 c.524C>T c.(523-525)tCc>tTc p.S175F NM_022896.1 NP_075047.1 Q9BQK8 LPIN3_HUMAN lipin 3 175 fatty acid metabolic process nucleus phosphatidate phosphatase activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Myeloproliferative disorder(115;0.000739) AGTGAGCTATCCCTGCCGGAA 0.567000 9 12 0 0 1 0 0 ZKSCAN2 342357 broad.mit.edu 37 16 25263318 25263318 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr16:25263318G>A ENST00000328086.7 - 4 1520 c.717C>T c.(715-717)tcC>tcT p.S239S NM_001012981.4 NP_001012999.3 Q63HK3 ZKSC2_HUMAN zinc finger with KRAB and SCAN domains 2 239 KRAB. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1) 36 GBM - Glioblastoma multiforme(48;0.0378) TCTTTCTGTAGGAAAAGCCTC 0.488000 36 66 0 0 1 0 0 SRCAP 10847 broad.mit.edu 37 16 30747679 30747679 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr16:30747679C>T ENST00000262518.4 + 32 7273 c.6888C>T c.(6886-6888)tcC>tcT p.S2296S SRCAP_ENST00000344771.4_Silent_p.S2138S|SRCAP_ENST00000395059.2_Silent_p.S2234S NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 2296 Glu-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) AGGAGATGTCCCGGGCTGAGC 0.557000 27 38 0 0 1 0 0 LARS 51520 broad.mit.edu 37 5 145524196 145524196 + Missense_Mutation SNP C C A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:145524196C>A ENST00000394434.2 - 16 1746 c.1580G>T c.(1579-1581)tGt>tTt p.C527F LARS_ENST00000274562.9_Missense_Mutation_p.C500F|LARS_ENST00000545646.1_Missense_Mutation_p.C481F|LARS_ENST00000510191.1_Missense_Mutation_p.C473F NM_020117.9 NP_064502.9 Q9P2J5 SYLC_HUMAN leucyl-tRNA synthetase 527 leucyl-tRNA aminoacylation cytosol ATP binding|leucine-tRNA ligase activity|protein binding breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8) 34 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) L-Leucine(DB00149) CCACTGGTCACACAGAGCCAC 0.393000 24 46 4.59853e-10 4.64019e-10 1 1 0 PDE3A 5139 broad.mit.edu 37 12 20801789 20801789 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:20801789G>A ENST00000359062.3 + 13 2773 c.2733G>A c.(2731-2733)aaG>aaA p.K911K PDE3A_ENST00000544307.1_3'UTR NM_000921.4|NM_001244683.1 NP_000912.3|NP_001231612.1 Q14432 PDE3A_HUMAN phosphodiesterase 3A, cGMP-inhibited 911 Catalytic (By similarity). lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 58 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) CTGACCTGAAGAAACACTTTG 0.363000 30 69 0 0 1 0 0 CNKSR2 22866 broad.mit.edu 37 X 21627285 21627285 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:21627285G>A ENST00000425654.2 + 19 2632 c.2152G>A c.(2152-2154)Gaa>Aaa p.E718K CNKSR2_ENST00000379510.3_Missense_Mutation_p.E748K|CNKSR2_ENST00000543067.1_Missense_Mutation_p.E699K|CNKSR2_ENST00000279451.4_Missense_Mutation_p.E748K NM_001168647.1 NP_001162118.1 Q8WXI2 CNKR2_HUMAN connector enhancer of kinase suppressor of Ras 2 748 regulation of signal transduction cytoplasm|membrane protein binding breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3) 61 GTTTCGCCAGGAAGTAACTGG 0.522000 63 71 0 0 1 0 0 SBK2 646643 broad.mit.edu 37 19 56047458 56047458 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:56047458C>T ENST00000413299.1 - 2 241 c.204G>A c.(202-204)ctG>ctA p.L68L SBK2_ENST00000344158.3_Silent_p.L68L NM_001101401.2 NP_001094871.2 P0C263 SBK2_HUMAN SH3 domain binding kinase family, member 2 68 Protein kinase. ATP binding|protein serine/threonine kinase activity endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 9 AACCCTGGCCCAGGGGACGCA 0.672000 10 18 0 0 1 0 0 HABP2 3026 broad.mit.edu 37 10 115338533 115338533 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:115338533G>A ENST00000351270.3 + 7 812 c.716G>A c.(715-717)gGg>gAg p.G239E HABP2_ENST00000541666.1_Missense_Mutation_p.G239E|HABP2_ENST00000537906.1_3'UTR|HABP2_ENST00000542051.1_Missense_Mutation_p.G213E NM_004132.3 NP_004123.1 Q14520 HABP2_HUMAN hyaluronan binding protein 2 239 Kringle. cell adhesion|proteolysis extracellular space glycosaminoglycan binding|serine-type endopeptidase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2) 23 Colorectal(252;0.0233)|Breast(234;0.0672) Epithelial(162;0.00319)|all cancers(201;0.0112) GAAACCCATGGGATTGGGGAA 0.408000 27 55 0 0 1 0 0 KCNA5 3741 broad.mit.edu 37 12 5155095 5155095 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:5155095G>A ENST00000252321.3 + 1 2011 c.1782G>A c.(1780-1782)gtG>gtA p.V594V NM_002234.3 NP_002225.2 P22460 KCNA5_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 5 594 Golgi apparatus|voltage-gated potassium channel complex delayed rectifier potassium channel activity NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2) 52 AGAGCAACGTGGACTTGCGGA 0.577000 17 14 0 0 1 0 0 EXOC5 10640 broad.mit.edu 37 14 57676316 57676316 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr14:57676316G>A ENST00000413566.2 - 17 2266 c.1907C>T c.(1906-1908)gCc>gTc p.A636V EXOC5_ENST00000340918.7_Missense_Mutation_p.A571V NM_006544.3 NP_006535.1 O00471 EXOC5_HUMAN exocyst complex component 5 636 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 CCTATATTCGGCTACATCACA 0.388000 10 19 0 0 1 0 0 GRIN2C 2905 broad.mit.edu 37 17 72848616 72848616 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:72848616G>A ENST00000293190.5 - 3 680 c.534C>T c.(532-534)ttC>ttT p.F178F GRIN2C_ENST00000347612.4_Silent_p.F178F|GRIN2C_ENST00000578159.1_5'UTR NM_000835.3 NP_000826.2 Q14957 NMDE3_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2C 178 glutamate signaling pathway cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1) 33 all_lung(278;0.172)|Lung NSC(278;0.207) Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836) CGCCCTCCAGGAAGAGCGCGT 0.716000 6 11 0 0 1 0 0 CGN 57530 broad.mit.edu 37 1 151491492 151491492 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:151491492C>T ENST00000271636.7 + 2 630 c.497C>T c.(496-498)cCa>cTa p.P166L NM_020770.2 NP_065821.1 Q9P2M7 CING_HUMAN cingulin 160 Head.|Interacts with ZO-2. myosin complex|tight junction actin binding|motor activity NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 45 Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) LUSC - Lung squamous cell carcinoma(543;0.181) GTGGCTTCCCCAGGTAGCACC 0.602000 19 76 0 0 1 0 0 EPHA10 284656 broad.mit.edu 37 1 38227713 38227713 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:38227713G>A ENST00000373048.4 - 3 213 c.214C>T c.(214-216)Cgc>Tgc p.R72C EPHA10_ENST00000427468.2_Missense_Mutation_p.R72C|EPHA10_ENST00000319637.6_Missense_Mutation_p.R72C NM_001099439.1 NP_001092909.1 Q5JZY3 EPHAA_HUMAN EPH receptor A10 72 extracellular region|integral to membrane|integral to plasma membrane ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity p.R72C(1) NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197) Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) TGGTACGTGCGGATGGGACGG 0.612000 22 57 0 0 1 0 0 MRGPRX2 117194 broad.mit.edu 37 11 19077804 19077804 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:19077804C>T ENST00000329773.2 - 2 233 c.146G>A c.(145-147)gGg>gAg p.G49E NM_054030.2 NP_473371.1 Q96LB1 MRGX2_HUMAN MAS-related GPR, member X2 49 sensory perception of pain|sleep plasma membrane G-protein coupled receptor activity|neuropeptide binding NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1) 15 GAGCACAAACCCGTTTCCTAC 0.582000 43 100 0 0 1 0 0 OR10A2 341276 broad.mit.edu 37 11 6891406 6891406 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:6891406C>T ENST00000307322.4 + 1 483 c.421C>T c.(421-423)Cct>Tct p.P141S NM_001004460.1 NP_001004460.1 Q9H208 O10A2_HUMAN olfactory receptor, family 10, subfamily A, member 2 141 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1) 24 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) CCCAGGCTTTCCTGTAGCTAC 0.542000 66 86 0 0 1 0 0 MSRB2 22921 broad.mit.edu 37 10 23408343 23408343 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:23408343C>T ENST00000376510.3 + 4 510 c.407C>T c.(406-408)tCg>tTg p.S136L MSRB2_ENST00000468633.1_3'UTR NM_012228.3 NP_036360.3 Q9Y3D2 MSRB2_HUMAN methionine sulfoxide reductase B2 136 protein repair mitochondrion peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1) 9 L-Methionine(DB00134) CTGGATACCTCGTTAGGATCA 0.522000 25 47 0 0 1 0 0 TRIML1 339976 broad.mit.edu 37 4 189060748 189060748 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr4:189060748G>A ENST00000332517.3 + 1 176 c.36G>A c.(34-36)gaG>gaA p.E12E NM_178556.3 NP_848651.2 Q8N9V2 TRIML_HUMAN tripartite motif family-like 1 12 multicellular organismal development ligase activity|zinc ion binding NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 60 all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062) OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156) ACCTCAGGGAGGAACTCACCT 0.527000 26 88 0 0 1 0 0 CD97 976 broad.mit.edu 37 19 14513434 14513434 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:14513434C>T ENST00000242786.5 + 12 1289 c.1209C>T c.(1207-1209)tcC>tcT p.S403S CD97_ENST00000358600.3_Silent_p.S310S|CD97_ENST00000357355.3_Silent_p.S354S NM_078481.3 NP_510966.1 P48960 CD97_HUMAN CD97 molecule 403 cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway extracellular space|integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 GCATCCTCTCCATCCAGAACA 0.577000 42 69 0 0 1 0 0 IFI27L2 83982 broad.mit.edu 37 14 94595900 94595900 + Translation_Start_Site SNP A A G TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr14:94595900A>G ENST00000238609.3 - 1 101 c.2T>C c.(1-3)aTg>aCg p.M1T IFI27L2_ENST00000556727.1_Intron NM_032036.2 NP_114425.1 Q9H2X8 I27L2_HUMAN interferon, alpha-inducible protein 27-like 2 1 integral to membrane breast(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1) 8 CTCACTCATCATGGTGAGGCC 0.627000 26 47 0 0 1 0 0 RFPL2 10739 broad.mit.edu 37 22 32586942 32586942 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr22:32586942G>A ENST00000400236.3 - 5 1889 c.684C>T c.(682-684)tcC>tcT p.S228S RFPL2_ENST00000489846.1_5'UTR|RFPL2_ENST00000248983.4_Silent_p.S228S|RFPL2_ENST00000400237.1_Silent_p.S318S|RFPL2_ENST00000248980.4_Silent_p.S257S NM_001098527.2 NP_001091997.2 O75678 RFPL2_HUMAN ret finger protein-like 2 318 B30.2/SPRY. zinc ion binding endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2) 21 CATCAAAAAAGGAAACGTTCT 0.512000 13 45 0 0 1 0 0 KIAA1324L 222223 broad.mit.edu 37 7 86539170 86539170 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:86539170C>T ENST00000450689.2 - 16 2502 c.2317G>A c.(2317-2319)Gcc>Acc p.A773T KIAA1324L_ENST00000444627.1_Missense_Mutation_p.A702T|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.A606T|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.A533T NM_001142749.2 NP_001136221.1 A8MWY0 K132L_HUMAN KIAA1324-like 773 integral to membrane breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 44 Esophageal squamous(14;0.0058) GATGATAAGGCTGCTCGGAAA 0.368000 62 83 0 0 1 0 0 WDR43 23160 broad.mit.edu 37 2 29158443 29158443 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:29158443C>T ENST00000407426.3 + 12 1550 c.1494C>T c.(1492-1494)ccC>ccT p.P498P NM_015131.1 NP_055946.1 Q15061 WDR43_HUMAN WD repeat domain 43 498 nucleolus breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1) 20 Acute lymphoblastic leukemia(172;0.155) TAAGGATGCCCCTGCATACTA 0.333000 25 44 0 0 1 0 0 FAM78A 286336 broad.mit.edu 37 9 134136313 134136313 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr9:134136313G>A ENST00000372271.3 - 2 1115 c.748C>T c.(748-750)Ccg>Tcg p.P250S FAM78A_ENST00000372269.3_Missense_Mutation_p.P247S|FAM78A_ENST00000247295.4_5'UTR NM_033387.3 NP_203745.2 Q5JUQ0 FA78A_HUMAN family with sequence similarity 78, member A 250 NS(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1) 9 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267) GCGCTGGGCGGGATGGGCTCA 0.687000 92 20 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25474168 25474168 + RNA SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr15:25474168C>T ENST00000453082.2 + 0 1370 SNORD115-32_ENST00000364079.1_RNA NR_003343.1 ACTTAAAAATCATGTTCAATA 0.488000 103 161 0 0 1 0 0 PDGFD 80310 broad.mit.edu 37 11 103866938 103866938 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:103866938G>A ENST00000302251.5 - 3 798 c.347C>T c.(346-348)aCc>aTc p.T116I PDGFD_ENST00000393158.2_Missense_Mutation_p.T122I NM_025208.4|NM_033135.3 NP_079484.1|NP_149126.1 Q9GZP0 PDGFD_HUMAN platelet derived growth factor D 122 CUB. positive regulation of cell division endoplasmic reticulum lumen|extracellular region|Golgi membrane growth factor activity biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165) BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111) AATGGTACTGGTTTCGGATAT 0.343000 16 33 0 0 1 0 0 NPHS1 4868 broad.mit.edu 37 19 36333131 36333131 + Missense_Mutation SNP C C A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:36333131C>A ENST00000378910.5 - 19 2557 c.2558G>T c.(2557-2559)gGa>gTa p.G853V NPHS1_ENST00000353632.6_Missense_Mutation_p.G853V NM_004646.3 NP_004637.1 O60500 NPHN_HUMAN nephrosis 1, congenital, Finnish type (nephrin) 853 Ig-like C2-type 8. 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) GGTGCTGTCTCCAGCTGCAGC 0.592000 6 14 3.59834e-05 3.61239e-05 1 1 0 NPAS4 266743 broad.mit.edu 37 11 66190641 66190641 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:66190641C>T ENST00000311034.2 + 5 922 c.746C>T c.(745-747)tCa>tTa p.S249L NM_178864.3 NP_849195.2 Q8IUM7 NPAS4_HUMAN neuronal PAS domain protein 4 249 PAS 2. transcription, DNA-dependent DNA binding|signal transducer activity breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3) 49 CTTTGTAAATCATGGTATGGA 0.537000 4 11 0 0 1 0 0 E2F4 1874 broad.mit.edu 37 16 67228767 67228767 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr16:67228767C>T ENST00000379378.3 + 6 751 c.692C>T c.(691-693)cCt>cTt p.P231L NM_001950.3 NP_001941.2 Q16254 E2F4_HUMAN E2F transcription factor 4, p107/p130-binding 231 G1 phase of mitotic cell cycle transcription factor complex DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription factor binding breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2) 11 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325) CTGCCCAAGCCTGCCCTAGCC 0.607000 24 48 0 0 1 0 0 TLN1 7094 broad.mit.edu 37 9 35711042 35711042 + Missense_Mutation SNP A A C TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr9:35711042A>C ENST00000314888.9 - 31 4410 c.4057T>G c.(4057-4059)Tgc>Ggc p.C1353G TLN1_ENST00000540444.1_Missense_Mutation_p.C1353G NM_006289.3 NP_006280.3 Q9Y490 TLN1_HUMAN talin 1 1353 Interaction with SYNM. axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6) 85 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) TGCTGGGTGCACATAGTGATG 0.517000 23 21 0 0 1 0 0 PLXND1 23129 broad.mit.edu 37 3 129292537 129292537 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:129292537C>T ENST00000393239.1 - 13 2915 c.2737G>A c.(2737-2739)Gga>Aga p.G913R PLXND1_ENST00000324093.4_Missense_Mutation_p.G913R Q9Y4D7 PLXD1_HUMAN plexin D1 913 IPT/TIG 1. axon guidance integral to membrane|intracellular|plasma membrane PLXND1/TMCC1(4) NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 72 AGGTTCCTTCCTCGGATGGTC 0.657000 15 22 0 0 1 0 0 ITGA2B 3674 broad.mit.edu 37 17 42457388 42457388 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:42457388G>A ENST00000262407.5 - 17 1765 c.1734C>T c.(1732-1734)acC>acT p.T578T ITGA2B_ENST00000353281.4_Silent_p.T578T NM_000419.3 NP_000410.2 P08514 ITA2B_HUMAN integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) 578 axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation integrin complex|platelet alpha granule membrane identical protein binding|receptor activity biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.191) Tirofiban(DB00775) AGGCCATGGTGGTGTGGCAGA 0.642000 18 22 0 0 1 0 0 TMEM115 11070 broad.mit.edu 37 3 50392780 50392780 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:50392780C>T ENST00000266025.3 - 2 1596 c.1050G>A c.(1048-1050)acG>acA p.T350T XXcos-LUCA11.5_ENST00000606589.1_Intron NM_007024.4 NP_008955.1 Q12893 TM115_HUMAN transmembrane protein 115 350 negative regulation of cell proliferation Golgi apparatus|integral to membrane|nucleus breast(2)|endometrium(1)|lung(1)|prostate(1) 5 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) GGAGTTACAGCGTCGGGGGAG 0.632000 6 47 0 0 1 0 0 TSPAN11 441631 broad.mit.edu 37 12 31116808 31116808 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:31116808G>A ENST00000261177.9 + 3 191 c.132G>A c.(130-132)gaG>gaA p.E44E TSPAN11_ENST00000535215.1_5'UTR|TSPAN11_ENST00000544427.1_Silent_p.E34E|TSPAN11_ENST00000546076.1_Silent_p.E44E NM_001080509.2 NP_001073978.1 A1L157 TSN11_HUMAN tetraspanin 11 44 integral to membrane endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2) 11 all_lung(12;3.11e-10)|Lung NSC(12;5.24e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233) CCCTGGTGGAGAAGAGTGGCT 0.667000 45 74 0 0 1 0 0 OR13F1 138805 broad.mit.edu 37 9 107266939 107266939 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr9:107266939C>T ENST00000334726.2 + 1 485 c.396C>T c.(394-396)taC>taT p.Y132Y NM_001004485.1 NP_001004485.1 Q8NGS4 O13F1_HUMAN olfactory receptor, family 13, subfamily F, member 1 132 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 31 CCCTGAGATACCCTGTCATCA 0.547000 40 11 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141459360 141459360 + Silent SNP C C T rs139951414 byFrequency TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:141459360C>T ENST00000389484.3 - 40 7328 c.6357G>A c.(6355-6357)acG>acA p.T2119T NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 2119 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding 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) TCATGGTTATCGTTTCTGTGG 0.413000 TSP Lung(27;0.18) 24 52 0 0 1 0 0 KIAA1324 57535 broad.mit.edu 37 1 109735408 109735408 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:109735408C>T ENST00000369939.3 + 14 2042 c.1859C>T c.(1858-1860)tCc>tTc p.S620F KIAA1324_ENST00000369938.1_3'UTR|KIAA1324_ENST00000529753.1_Missense_Mutation_p.S533F NM_020775.4 NP_065826.2 Q6UXG2 K1324_HUMAN KIAA1324 620 macroautophagy|positive regulation of vacuole organization|regulation of apoptosis integral to plasma membrane NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063) Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249) ACCTGCCACTCCTGCCCCACT 0.552000 32 90 0 0 1 0 0 NDUFAF7 55471 broad.mit.edu 37 2 37473323 37473323 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:37473323G>A ENST00000002125.4 + 8 961 c.921G>A c.(919-921)aaG>aaA p.K307K NDUFAF7_ENST00000336237.6_Silent_p.K209K|NDUFAF7_ENST00000483999.1_3'UTR NM_144736.4 NP_653337.1 NADH dehydrogenase (ubiquinone) complex I, assembly factor 7 ATGGAACAAAGACAGATACCT 0.403000 25 48 0 0 1 0 0 USP24 23358 broad.mit.edu 37 1 55559721 55559721 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:55559721G>A ENST00000294383.6 - 52 6242 c.6243C>T c.(6241-6243)tcC>tcT p.S2081S USP24_ENST00000407756.1_Silent_p.S1921S NM_015306.2 NP_056121.2 Q9UPU5 UBP24_HUMAN ubiquitin specific peptidase 24 2081 ubiquitin-dependent protein catabolic process binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 60 GGGGCCGAGGGGATGACTGAG 0.438000 8 18 0 0 1 0 0 IL13RA2 3598 broad.mit.edu 37 X 114239801 114239801 + Missense_Mutation SNP T T C TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:114239801T>C ENST00000371936.1 - 10 1324 c.1075A>G c.(1075-1077)Acc>Gcc p.T359A IL13RA2_ENST00000243213.1_Missense_Mutation_p.T359A Q14627 I13R2_HUMAN interleukin 13 receptor, alpha 2 359 extracellular space|integral to membrane|soluble fraction cytokine receptor activity NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 23 AGCAGACCGGTTACAAATATA 0.353000 48 53 0 0 1 0 0 LPAR5 57121 broad.mit.edu 37 12 6729643 6729643 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:6729643C>T ENST00000329858.4 - 2 1528 c.772G>A c.(772-774)Ggg>Agg p.G258R LPAR5_ENST00000431922.1_Missense_Mutation_p.G258R|LPAR5_ENST00000540335.1_5'UTR NM_020400.5 NP_065133.1 Q9H1C0 LPAR5_HUMAN lysophosphatidic acid receptor 5 258 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|skin(2) 7 CGCAGCAGCCCGTAGACCGCC 0.692000 3 4 0 0 1 0 0 ST6GALNAC3 256435 broad.mit.edu 37 1 76878004 76878004 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:76878004G>A ENST00000328299.3 + 3 673 c.525G>A c.(523-525)aaG>aaA p.K175K ST6GALNAC3_ENST00000464140.1_3'UTR NM_152996.2 NP_694541.2 Q8NDV1 SIA7C_HUMAN ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 175 protein glycosylation integral to Golgi membrane sialyltransferase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2) 36 TGTTGAAAAAGACAGTTGGTA 0.398000 16 60 0 0 1 0 0 IGKV3-7 28915 broad.mit.edu 37 2 89278455 89278455 + RNA SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:89278455C>T ENST00000390247.2 - 0 145 TTCCCCTCACCTGGGAGCCAG 0.498000 26 53 0 0 1 0 0 SLC12A9 56996 broad.mit.edu 37 7 100459377 100459377 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:100459377C>T ENST00000354161.3 + 12 1680 c.1555C>T c.(1555-1557)Cgg>Tgg p.R519W SLC12A9_ENST00000428758.1_Missense_Mutation_p.R519W|SLC12A9_ENST00000540482.1_Missense_Mutation_p.R519W|SLC12A9_ENST00000275729.3_Missense_Mutation_p.R430W|SLC12A9_ENST00000415287.1_Missense_Mutation_p.R430W NM_020246.3 NP_064631.2 Q9BXP2 S12A9_HUMAN solute carrier family 12, member 9 519 integral to membrane|plasma membrane cation:chloride symporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 41 Lung NSC(181;0.041)|all_lung(186;0.0581) GTATCTGCTTCGGCTGGACGT 0.647000 61 95 0 0 1 0 0 DIAPH2 1730 broad.mit.edu 37 X 96136647 96136647 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:96136647G>A ENST00000324765.8 + 5 864 c.517G>A c.(517-519)Ggt>Agt p.G173S DIAPH2_ENST00000373061.3_Missense_Mutation_p.G173S|DIAPH2_ENST00000373054.4_Missense_Mutation_p.G169S|DIAPH2_ENST00000373049.4_Missense_Mutation_p.G173S|DIAPH2_ENST00000355827.4_Missense_Mutation_p.G173S O60879 DIAP2_HUMAN diaphanous-related formin 2 173 GBD/FH3. cell differentiation|cytokinesis|multicellular organismal development|oogenesis cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus receptor binding|Rho GTPase binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 51 ATTACGATCGGGTATATCAGA 0.383000 30 44 0 0 1 0 0 PAPD4 167153 broad.mit.edu 37 5 78977832 78977832 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:78977832G>A ENST00000453514.1 + 14 2021 c.1328G>A c.(1327-1329)aGa>aAa p.R443K PAPD4_ENST00000296783.3_Missense_Mutation_p.R443K|PAPD4_ENST00000504233.1_Missense_Mutation_p.R400K|PAPD4_ENST00000423041.2_Missense_Mutation_p.R439K|PAPD4_ENST00000428308.2_Missense_Mutation_p.R443K NM_001114394.1 NP_001107866.1 Q6PIY7 GLD2_HUMAN PAP associated domain containing 4 443 histone mRNA catabolic process|mRNA processing|RNA polyadenylation cytoplasm ATP binding|metal ion binding|polynucleotide adenylyltransferase activity biliary_tract(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(9)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36) AATACAGCCAGAGCAGTGCAC 0.313000 13 19 0 0 1 0 0 PIWIL2 55124 broad.mit.edu 37 8 22173807 22173807 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:22173807G>A ENST00000356766.6 + 19 2406 c.2258G>A c.(2257-2259)gGc>gAc p.G753D PIWIL2_ENST00000454009.2_Missense_Mutation_p.G753D|PIWIL2_ENST00000521356.1_Missense_Mutation_p.G753D NM_018068.3 NP_060538.2 Q8TC59 PIWL2_HUMAN piwi-like RNA-mediated gene silencing 2 753 Piwi. DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis chromatoid body|pi-body piRNA binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 46 Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707) CCCAGTAGAGGCATGCGCTCC 0.418000 10 26 0 0 1 0 0 NLRP9 338321 broad.mit.edu 37 19 56244734 56244734 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:56244734C>T ENST00000332836.2 - 2 490 c.463G>A c.(463-465)Gga>Aga p.G155R NM_176820.2 NP_789790.2 Q7RTR0 NALP9_HUMAN NLR family, pyrin domain containing 9 155 NACHT. cytoplasm ATP binding NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3) 74 Colorectal(82;0.000133)|Ovarian(87;0.133) GBM - Glioblastoma multiforme(193;0.123) TTTCCAATTCCATCAGGACCT 0.413000 29 45 0 0 1 0 0 COL6A3 1293 broad.mit.edu 37 2 238266485 238266485 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:238266485C>T ENST00000295550.4 - 22 6964 c.6512G>A c.(6511-6513)gGa>gAa p.G2171E COL6A3_ENST00000472056.1_Missense_Mutation_p.G1564E|COL6A3_ENST00000409809.1_Missense_Mutation_p.G1965E|COL6A3_ENST00000347401.3_Missense_Mutation_p.G1970E|COL6A3_ENST00000353578.4_Missense_Mutation_p.G1965E|COL6A3_ENST00000346358.4_Missense_Mutation_p.G1971E NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 2171 Triple-helical region. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) ACCGGTTTCTCCTTTGGGTCC 0.542000 107 60 0 0 1 0 0 COL15A1 1306 broad.mit.edu 37 9 101782716 101782716 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr9:101782716G>A ENST00000375001.3 + 12 2116 c.1693G>A c.(1693-1695)Gga>Aga p.G565R NM_001855.3 NP_001846.3 P39059 COFA1_HUMAN collagen, type XV, alpha 1 565 Triple-helical region 1 (COL1). angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 107 Acute lymphoblastic leukemia(62;0.0562) TGGGCCCAAAGGAGAAAAGGT 0.453000 18 16 0 0 1 0 0 DIP2B 57609 broad.mit.edu 37 12 51112497 51112497 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:51112497G>A ENST00000301180.5 + 24 2891 c.2857G>A c.(2857-2859)Ggc>Agc p.G953S NM_173602.2 NP_775873.2 Q9P265 DIP2B_HUMAN DIP2 disco-interacting protein 2 homolog B (Drosophila) 953 nucleus catalytic activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 60 TACAGGTGTAGGCCCTGCTTC 0.448000 10 20 0 0 1 0 0 ARAP3 64411 broad.mit.edu 37 5 141059773 141059773 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:141059773G>A ENST00000239440.4 - 2 346 c.281C>T c.(280-282)cCc>cTc p.P94L ARAP3_ENST00000508305.1_Missense_Mutation_p.P16L NM_022481.5 NP_071926.4 Q8WWN8 ARAP3_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 94 Pro-rich. 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 CTTCGGCACGGGCTTAGGGGG 0.657000 35 49 0 0 1 0 0 LTBP2 4053 broad.mit.edu 37 14 74995355 74995355 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr14:74995355C>T ENST00000261978.4 - 12 2585 c.2199G>A c.(2197-2199)gcG>gcA p.A733A LTBP2_ENST00000556690.1_Silent_p.A733A NM_000428.2 NP_000419.1 Q14767 LTBP2_HUMAN latent transforming growth factor beta binding protein 2 733 protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) TGTCGGAGCTCGCGTAGGTGT 0.637000 26 47 0 0 1 0 0 ARL8B 55207 broad.mit.edu 37 3 5164241 5164241 + Missense_Mutation SNP T T C TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:5164241T>C ENST00000256496.3 + 1 337 c.91T>C c.(91-93)Tcg>Ccg p.S31P ARL8B_ENST00000419534.2_Missense_Mutation_p.S31P NM_018184.2 NP_060654.1 Q9NVJ2 ARL8B_HUMAN ADP-ribosylation factor-like 8B 31 cell cycle|cell division|chromosome segregation|small GTPase mediated signal transduction late endosome membrane|lysosomal membrane|midbody|spindle midzone alpha-tubulin binding|beta-tubulin binding|GDP binding|GTP binding|GTPase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|skin(1) 9 OV - Ovarian serous cystadenocarcinoma(96;0.0717)|Epithelial(13;0.0777) GCTGCAGTACTCGGGCAAGAC 0.667000 13 23 0 0 1 0 0 PRR12 57479 broad.mit.edu 37 19 50099936 50099936 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:50099936C>T ENST00000418929.2 + 4 2356 c.2344C>T c.(2344-2346)Ctt>Ttt p.L782F NM_020719.1 NP_065770.1 Q9ULL5 PRR12_HUMAN proline rich 12 477 DNA binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2) 11 all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132) CCATGGCCTCCTTCTGGAGGC 0.716000 12 24 0 0 1 0 0 SLC35F4 341880 broad.mit.edu 37 14 58063613 58063613 + Translation_Start_Site SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr14:58063613C>T ENST00000339762.6 - 1 2 c.3G>A c.(1-3)atG>atA p.M1I SLC35F4_ENST00000557430.1_Intron|SLC35F4_ENST00000556826.1_Intron|SLC35F4_ENST00000554729.1_5'UTR solute carrier family 35, member F4 breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 GTAGTTCATCCATGACAGACA 0.443000 15 21 0 0 1 0 0 BAD 572 broad.mit.edu 37 11 64037639 64037639 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:64037639G>A ENST00000544785.1 - 2 358 c.358C>T c.(358-360)Ctg>Ttg p.L120L BAD_ENST00000394532.3_3'UTR|BAD_ENST00000309032.3_3'UTR Q92934 BAD_HUMAN BCL2-associated agonist of cell death 0 activation of pro-apoptotic gene products|ADP metabolic process|ATP metabolic process|cellular response to hypoxia|cellular response to mechanical stimulus|cellular response to nicotine|glucose homeostasis|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|pore complex assembly|positive regulation of epithelial cell proliferation|positive regulation of glucokinase activity|positive regulation of insulin secretion|positive regulation of mitochondrial membrane potential|positive regulation of type B pancreatic cell development|regulation of mitochondrial membrane permeability|type B pancreatic cell proliferation cytosol|mitochondrial outer membrane caspase activator activity|phospholipid binding|protein kinase binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1) 4 TGGCTGCCCAGGGCAGTGGGA 0.597000 14 15 0 0 1 0 0 ZNF512 84450 broad.mit.edu 37 2 27823643 27823643 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:27823643C>T ENST00000355467.4 + 6 626 c.543C>T c.(541-543)acC>acT p.T181T ZNF512_ENST00000556601.1_Intron|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000379717.1_Silent_p.T180T|ZNF512_ENST00000416005.2_Silent_p.T152T|ZNF512_ENST00000413371.2_Silent_p.T104T Q96ME7 ZN512_HUMAN zinc finger protein 512 181 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 Acute lymphoblastic leukemia(172;0.155) GGAGGAAGACCATAGAGGGTT 0.423000 31 47 0 0 1 0 0 TBX19 9095 broad.mit.edu 37 1 168250508 168250508 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:168250508G>A ENST00000367821.3 + 1 231 c.180G>A c.(178-180)gaG>gaA p.E60E NM_005149.2 NP_005140.1 O60806 TBX19_HUMAN T-box 19 60 anatomical structure morphogenesis nucleus DNA binding NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1) 34 all_hematologic(923;0.215) TCACTAATGAGATGATTGTGA 0.532000 18 56 0 0 1 0 0 RASAL1 8437 broad.mit.edu 37 12 113553842 113553842 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:113553842G>A ENST00000546530.1 - 10 1031 c.746C>T c.(745-747)gCc>gTc p.A249V RASAL1_ENST00000446861.3_Missense_Mutation_p.A249V|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000548055.1_Missense_Mutation_p.A249V|RASAL1_ENST00000261729.5_Missense_Mutation_p.A249V NM_001193520.1|NM_004658.2 NP_001180449.1|NP_004649.2 O95294 RASL1_HUMAN RAS protein activator like 1 (GAP1 like) 249 intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane metal ion binding|phospholipid binding|Ras GTPase activator activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2) 43 CACTCGCAGGGCACCCAGGTT 0.577000 48 18 0 0 1 0 0 NFKBIZ 64332 broad.mit.edu 37 3 101571960 101571960 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:101571960G>A ENST00000326172.5 + 5 705 c.590G>A c.(589-591)gGg>gAg p.G197E NFKBIZ_ENST00000394054.2_Missense_Mutation_p.G97E|NFKBIZ_ENST00000326151.5_Missense_Mutation_p.G197E NM_031419.3 NP_113607.1 Q9BYH8 IKBZ_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta 197 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 24 CCAACGCCCGGGGAGAGCATG 0.438000 31 50 0 0 1 0 0 PDE5A 8654 broad.mit.edu 37 4 120481450 120481450 + Splice_Site SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr4:120481450C>T ENST00000354960.3 - 7 1519 c.e7+1 PDE5A_ENST00000264805.5_Splice_Site|PDE5A_ENST00000394439.1_Splice_Site NM_001083.3 NP_001074.2 O76074 PDE5A_HUMAN phosphodiesterase 5A, cGMP-specific platelet activation|signal transduction cytosol 3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1) 27 Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862) CGTGCTTTTACCTTGTTAATG 0.308000 14 13 0 0 1 0 0 CDH10 1008 broad.mit.edu 37 5 24488039 24488039 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:24488039C>T ENST00000264463.4 - 12 2607 c.2100G>A c.(2098-2100)agG>agA p.R700R CDH10_ENST00000502921.1_5'UTR NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 700 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) CTGTAGGAGTCCTCCGAGGAA 0.498000 HNSCC(23;0.051) 33 43 0 0 1 0 0 BZRAP1 9256 broad.mit.edu 37 17 56382996 56382996 + Nonsense_Mutation SNP T T A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:56382996T>A ENST00000355701.3 - 28 6136 c.5266A>T c.(5266-5268)Aag>Tag p.K1756* BZRAP1_ENST00000268893.6_Nonsense_Mutation_p.K1696*|BZRAP1_ENST00000343736.4_Nonsense_Mutation_p.K1756* NM_001261835.1|NM_004758.3 NP_001248764.1|NP_004749.2 O95153 RIMB1_HUMAN benzodiazapine receptor (peripheral) associated protein 1 1756 mitochondrion benzodiazepine receptor binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) GGGACCAGCTTAGGGGGGCCT 0.612000 4 8 0 0 1 0 0 TRPC7 57113 broad.mit.edu 37 5 135692539 135692539 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:135692539G>A ENST00000513104.1 - 2 819 c.537C>T c.(535-537)atC>atT p.I179I TRPC7_ENST00000355180.3_Silent_p.I179I|TRPC7_ENST00000426057.2_Silent_p.I179I NM_020389.2 NP_065122.1 Q9HCX4 TRPC7_HUMAN transient receptor potential cation channel, subfamily C, member 7 179 axon guidance|platelet activation integral to membrane|plasma membrane calcium channel activity|protein binding NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3) 46 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GGATGTGCACGATCTCATACT 0.607000 67 88 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237895414 237895414 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:237895414C>T ENST00000366574.2 + 78 11321 c.11004C>T c.(11002-11004)atC>atT p.I3668I RYR2_ENST00000360064.6_Silent_p.I3666I|RYR2_ENST00000542537.1_Silent_p.I3652I NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 3668 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) ATCAGCTGATCCTTCTGTTTA 0.423000 36 11 0 0 1 0 0 CYP11A1 1583 broad.mit.edu 37 15 74636150 74636150 + Nonsense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr15:74636150C>T ENST00000358632.4 - 4 1030 c.335G>A c.(334-336)tGg>tAg p.W112* CYP11A1_ENST00000419019.2_Nonsense_Mutation_p.W112*|CYP11A1_ENST00000541301.1_3'UTR|CYP11A1_ENST00000268053.6_Nonsense_Mutation_p.W270* NM_001099773.1 NP_001093243.1 P05108 CP11A_HUMAN cytochrome P450, family 11, subfamily A, polypeptide 1 270 C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process mitochondrial matrix cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108) AATCACGTCCCATGCAGCCAC 0.577000 89 126 0 0 1 0 0 FPR1 2357 broad.mit.edu 37 19 52249646 52249646 + Missense_Mutation SNP C C G TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:52249646C>G ENST00000595042.1 - 3 743 c.602G>C c.(601-603)aGa>aCa p.R201T FPR1_ENST00000304748.4_Missense_Mutation_p.R201T NM_001193306.1 NP_001180235.1 P21462 FPR1_HUMAN formyl peptide receptor 1 201 activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction endosome|integral to membrane|plasma membrane N-formyl peptide receptor activity endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3) 20 all_neural(266;0.0189)|Medulloblastoma(540;0.146) GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018) Nedocromil(DB00716) GATGATGCCTCTCACCGTCAA 0.507000 38 68 0 0 1 0 0 UGT2B28 54490 broad.mit.edu 37 4 70146252 70146252 + Missense_Mutation SNP A A C TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr4:70146252A>C ENST00000335568.5 + 1 36 c.34A>C c.(34-36)Ata>Cta p.I12L UGT2B28_ENST00000511240.1_Missense_Mutation_p.I12L NM_053039.1 NP_444267.1 Q9BY64 UDB28_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B28 12 xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 31 Flunitrazepam(DB01544) TCTTCTGCTGATACATCTCGG 0.413000 67 87 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179416808 179416808 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:179416808C>T ENST00000589042.1 - 335 91043 c.90819G>A c.(90817-90819)aaG>aaA p.K30273K TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Silent_p.K27705K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000591111.1_Silent_p.K28632K|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Silent_p.K21333K|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Silent_p.K21400K|TTN_ENST00000460472.2_Silent_p.K21208K|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 28632 Fibronectin type-III 121. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) AACACACCATCTTCCAGTTAG 0.423000 36 50 0 0 1 0 0 PEX5L 51555 broad.mit.edu 37 3 179593248 179593248 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:179593248C>T ENST00000467460.1 - 6 853 c.523G>A c.(523-525)Gaa>Aaa p.E175K PEX5L_ENST00000485199.1_Missense_Mutation_p.E140K|PEX5L_ENST00000476138.1_Missense_Mutation_p.E132K|PEX5L_ENST00000468741.1_5'UTR|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000465751.1_Missense_Mutation_p.E151K|PEX5L_ENST00000464614.1_Missense_Mutation_p.E67K|PEX5L-AS1_ENST00000466064.1_RNA|PEX5L_ENST00000392649.3_Missense_Mutation_p.E67K|PEX5L_ENST00000263962.8_Missense_Mutation_p.E173K|PEX5L_ENST00000472994.1_Missense_Mutation_p.E116K NM_001256751.1|NM_016559.2 NP_001243680.1|NP_057643.1 Q8IYB4 PEX5R_HUMAN peroxisomal biogenesis factor 5-like 175 protein import into peroxisome matrix|regulation of cAMP-mediated signaling cytosol|peroxisomal membrane peroxisome matrix targeting signal-1 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183) OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518) TCCCATTTTTCCAGTTGTGTT 0.517000 18 33 0 0 1 0 0 ITGB2 3689 broad.mit.edu 37 21 46320382 46320382 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr21:46320382G>A ENST00000397850.2 - 8 1202 c.750C>T c.(748-750)atC>atT p.I250I ITGB2_ENST00000397854.3_Silent_p.I193I|ITGB2_ENST00000397857.1_Silent_p.I250I|ITGB2_ENST00000397852.1_Silent_p.I250I|ITGB2_ENST00000302347.5_Silent_p.I250I|ITGB2_ENST00000355153.4_Silent_p.I250I P05107 ITB2_HUMAN integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) 250 VWFA. apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation integrin complex glycoprotein binding|protein kinase binding|receptor activity breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3) 35 Colorectal(79;0.0669) Simvastatin(DB00641) TGCGCCAGCCGATTTCCTCCT 0.647000 35 15 0 0 1 0 0 ADCY1 107 broad.mit.edu 37 7 45747965 45747965 + Missense_Mutation SNP C C G TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:45747965C>G ENST00000297323.7 + 18 2856 c.2834C>G c.(2833-2835)tCc>tGc p.S945C NM_021116.2 NP_066939.1 Q08828 ADCY1_HUMAN adenylate cyclase 1 (brain) 945 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 71 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640) AAGTCCATCTCCTCCCACCTG 0.527000 15 36 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13735280 13735280 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:13735280C>T ENST00000265104.4 - 68 11825 c.11721G>A c.(11719-11721)agG>agA p.R3907R NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3907 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) TGACTCGGTTCCTCTGGATGT 0.438000 Kartagener syndrome 27 43 0 0 1 0 0 NCOA1 8648 broad.mit.edu 37 2 24929891 24929891 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:24929891C>T ENST00000405141.1 + 14 2263 c.1552C>T c.(1552-1554)Ccc>Tcc p.P518S NCOA1_ENST00000538539.1_Missense_Mutation_p.P518S|NCOA1_ENST00000395856.3_Missense_Mutation_p.P518S|NCOA1_ENST00000348332.3_Missense_Mutation_p.P518S|NCOA1_ENST00000288599.5_Missense_Mutation_p.P518S|NCOA1_ENST00000407230.1_Missense_Mutation_p.P367S|NCOA1_ENST00000406961.1_Missense_Mutation_p.P518S Q15788 NCOA1_HUMAN nuclear receptor coactivator 1 518 Interaction with STAT3.|Ser-rich. PAX3/NCOA1(8) breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 53 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ATTAAGCTCTCCCGTTGGCAT 0.418000 T PAX3 alveolar rhadomyosarcoma 33 70 0 0 1 0 0 COPG1 22820 broad.mit.edu 37 3 128976645 128976645 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:128976645C>T ENST00000314797.6 + 10 917 c.813C>T c.(811-813)gcC>gcT p.A271A NM_016128.3 NP_057212.1 Q9Y678 COPG_HUMAN coatomer protein complex, subunit gamma 1 271 COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol protein binding|structural molecule activity ATGAAGCCGCCTCGGCCATCG 0.557000 80 134 0 0 1 0 0 KIF26A 26153 broad.mit.edu 37 14 104642401 104642401 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr14:104642401G>A ENST00000315264.7 + 11 3237 c.2859G>A c.(2857-2859)gaG>gaA p.E953E KIF26A_ENST00000423312.2_Silent_p.E1092E Q9ULI4 KI26A_HUMAN kinesin family member 26A 1092 blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus cytosol|microtubule ATP binding|microtubule binding|microtubule motor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 21 all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767) Epithelial(46;0.152) Epithelial(152;0.161) AGGCCCCTGAGGGGGGGCCCC 0.682000 3 4 0 0 1 0 0 RYR1 6261 broad.mit.edu 37 19 38956791 38956791 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:38956791G>A ENST00000355481.4 + 24 3062 c.2931G>A c.(2929-2931)acG>acA p.T977T RYR1_ENST00000360985.3_Silent_p.T977T|RYR1_ENST00000359596.3_Silent_p.T977T NM_000540.2|NM_001042723.1 NP_000531.2|NP_001036188.1 P21817 RYR1_HUMAN ryanodine receptor 1 (skeletal) 977 6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7) 285 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) TGCGGCTGACGCCGGCGCAGA 0.657000 10 13 0 0 1 0 0 SLC5A3 6526 broad.mit.edu 37 21 35468332 35468332 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr21:35468332G>A ENST00000381151.3 + 2 1347 c.835G>A c.(835-837)Gac>Aac p.D279N MRPS6_ENST00000399312.2_Intron NM_006933.4 NP_008864.3 P53794 SC5A3_HUMAN solute carrier family 5 (sodium/myo-inositol cotransporter), member 3 279 integral to plasma membrane myo-inositol:sodium symporter activity breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 20 CTGGTGTGCTGACCAAGTCAT 0.488000 44 22 0 0 1 0 0 SERTAD1 29950 broad.mit.edu 37 19 40929340 40929340 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:40929340C>T ENST00000357949.4 - 2 272 c.114G>A c.(112-114)ccG>ccA p.P38P NM_013376.3 NP_037508.2 Q9UHV2 SRTD1_HUMAN SERTA domain containing 1 38 SERTA. positive regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent endometrium(2)|lung(1)|prostate(1)|skin(1) 5 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) AGGCCACGGCCGGGGGTGCCT 0.642000 15 25 0 0 1 0 0 B3GALT4 8705 broad.mit.edu 37 6 33245462 33245462 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr6:33245462C>T ENST00000451237.1 + 1 546 c.266C>T c.(265-267)gCc>gTc p.A89V NM_003782.3 NP_003773.1 O96024 B3GT4_HUMAN UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4 89 protein glycosylation Golgi membrane|integral to membrane ganglioside galactosyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2) 13 CAGAGAAACGCCATTCGGGCT 0.657000 5 94 0 0 1 0 0 UBR4 23352 broad.mit.edu 37 1 19493610 19493610 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:19493610C>T ENST00000375267.2 - 29 4018 c.4015G>A c.(4015-4017)Ggc>Agc p.G1339S UBR4_ENST00000375254.3_Missense_Mutation_p.G1339S|UBR4_ENST00000375217.2_Missense_Mutation_p.G1339S|UBR4_ENST00000375226.2_Missense_Mutation_p.G1339S Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 1339 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) TCAGCAGGGCCCAAGATGCGT 0.493000 35 33 0 0 1 0 0 ELMO1 9844 broad.mit.edu 37 7 37354507 37354507 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:37354507C>T ENST00000310758.4 - 4 786 c.139G>A c.(139-141)Gaa>Aaa p.E47K ELMO1_ENST00000442504.1_Missense_Mutation_p.E47K|ELMO1_ENST00000448602.1_Missense_Mutation_p.E47K NM_001206480.1|NM_014800.10 NP_001193409.1|NP_055615.8 Q92556 ELMO1_HUMAN engulfment and cell motility 1 47 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 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 GCAAAATATTCATGGTTGGCA 0.328000 29 40 0 0 1 0 0 ATRX 546 broad.mit.edu 37 X 76874400 76874400 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:76874400C>T ENST00000373344.5 - 21 5536 c.5322G>A c.(5320-5322)aaG>aaA p.K1774K ATRX_ENST00000395603.3_Silent_p.K1736K|ATRX_ENST00000480283.1_5'UTR NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 1774 DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) TCCTGAACTCCTTAATGGATC 0.318000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 29 37 0 0 1 0 0 LPPR2 64748 broad.mit.edu 37 19 11470547 11470547 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:11470547C>T ENST00000251473.5 + 5 682 c.306C>T c.(304-306)gcC>gcT p.A102A DKFZP761J1410_ENST00000591608.1_Silent_p.A77A NM_001170635.1|NM_022737.2 NP_001164106.1|NP_073574.2 CACCTTCAGCCGTCCCAGTCA 0.647000 21 10 0 0 1 0 0 TCL6 27004 broad.mit.edu 37 14 96134470 96134470 + RNA SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr14:96134470G>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) CAGATCACGGGAATTACAAGT 0.418000 T TRA@ T-ALL 26 53 0 0 1 0 0 KCNIP1 30820 broad.mit.edu 37 5 169931580 169931580 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:169931580G>A ENST00000328939.4 + 1 541 c.4G>A c.(4-6)Ggg>Agg p.G2R KCNIP1_ENST00000520740.1_5'UTR|KCNIP1_ENST00000390656.4_Missense_Mutation_p.G2R|KCNIP1_ENST00000411494.1_Missense_Mutation_p.G2R|KCNIP1_ENST00000434108.1_Missense_Mutation_p.G2R|KCNIP1_ENST00000377360.4_Intron NM_001034837.1|NM_014592.2 NP_001030009.1|NP_055407.1 Q9NZI2 KCIP1_HUMAN Kv channel interacting protein 1 2 detection of calcium ion|signal transduction|synaptic transmission plasma membrane potassium channel activity|voltage-gated ion channel activity autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 18 Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297) Medulloblastoma(196;0.0109)|all_neural(177;0.0177) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CGCTGCCATGGGGGCCGTCAT 0.582000 29 41 0 0 1 0 0 DBF4B 80174 broad.mit.edu 37 17 42824479 42824479 + Nonsense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:42824479C>T ENST00000315005.3 + 11 997 c.859C>T c.(859-861)Cga>Tga p.R287* DBF4B_ENST00000393547.2_Nonsense_Mutation_p.R287* NM_145663.2 NP_663696.1 Q8NFT6 DBF4B_HUMAN DBF4 homolog B (S. cerevisiae) 287 cell cycle nucleus nucleic acid binding|zinc ion binding kidney(1)|large_intestine(1)|lung(5) 7 Prostate(33;0.0322) GCCAAGCCCACGATCAGCTGC 0.592000 34 81 0 0 1 0 0 TTBK1 84630 broad.mit.edu 37 6 43227345 43227345 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr6:43227345C>T ENST00000259750.4 + 12 1408 c.1325C>T c.(1324-1326)cCc>cTc p.P442L TTBK1_ENST00000304139.5_Missense_Mutation_p.P391L NM_032538.1 NP_115927.1 Q5TCY1 TTBK1_HUMAN tau tubulin kinase 1 442 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) CCAGACTCCCCCACAACCCCA 0.667000 6 6 0 0 1 0 0 MTL5 9633 broad.mit.edu 37 11 68517757 68517757 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:68517757G>A ENST00000443940.2 - 2 458 c.372C>T c.(370-372)ttC>ttT p.F124F MTL5_ENST00000255087.5_Silent_p.F124F|MTL5_ENST00000544963.1_Silent_p.F124F Q9Y4I5 MTL5_HUMAN metallothionein-like 5, testis-specific (tesmin) 124 cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis cytoplasm|nucleus|soluble fraction metal ion binding breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2) 15 Esophageal squamous(3;4.37e-12) LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185) GCGAGGACAGGAAGTGCACGT 0.736000 5 7 0 0 1 0 0 PCDH9 5101 broad.mit.edu 37 13 67800481 67800481 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr13:67800481C>T ENST00000544246.1 - 2 2783 c.2092G>A c.(2092-2094)Gca>Aca p.A698T PCDH9_ENST00000377865.2_Missense_Mutation_p.A698T|PCDH9_ENST00000456367.1_Missense_Mutation_p.A698T|PCDH9_ENST00000377861.3_Missense_Mutation_p.A698T|PCDH9_ENST00000328454.5_Missense_Mutation_p.A698T NM_203487.2 NP_982354.1 Q9HC56 PCDH9_HUMAN protocadherin 9 698 Cadherin 7. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 103 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) AAAACTTCTGCTACCACGGAG 0.448000 39 59 0 0 1 0 0 GCN1L1 10985 broad.mit.edu 37 12 120585974 120585974 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:120585974G>A ENST00000300648.6 - 37 4735 c.4723C>T c.(4723-4725)Ctg>Ttg p.L1575L NM_006836.1 NP_006827.1 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 1-like 1 (yeast) 1575 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GGCCTACCCAGGATCTCCGGG 0.587000 7 35 0 0 1 0 0 ABCA7 10347 broad.mit.edu 37 19 1047651 1047651 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:1047651C>T ENST00000263094.6 + 16 2498 c.2267C>T c.(2266-2268)cCa>cTa p.P756L ABCA7_ENST00000435683.2_Missense_Mutation_p.P618L|ABCA7_ENST00000433129.1_Missense_Mutation_p.P756L NM_019112.3 NP_061985.2 Q8IZY2 ABCA7_HUMAN ATP-binding cassette, sub-family A (ABC1), member 7 756 phagocytosis|transmembrane transport ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane ATP binding|ATPase activity|transporter activity NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 65 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCTGTGTGCCCAGGTGGGCCG 0.711000 6 4 0 0 1 0 0 CRAMP1L 57585 broad.mit.edu 37 16 1716090 1716090 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr16:1716090G>A ENST00000397412.3 + 15 2868 c.2769G>A c.(2767-2769)cgG>cgA p.R923R CRAMP1L_ENST00000436138.3_Silent_p.R920R|CRAMP1L_ENST00000293925.5_Silent_p.R923R|CRAMP1L_ENST00000262317.4_Silent_p.R301R|LA16c-431H6.6_ENST00000454337.1_3'UTR Q96RY5 CRML_HUMAN Crm, cramped-like (Drosophila) 923 nucleus DNA binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1) 22 GTTCGTTCCGGCCCATCCAGT 0.632000 4 9 0 0 1 0 0 GREB1 9687 broad.mit.edu 37 2 11774278 11774278 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:11774278G>A ENST00000381486.2 + 29 5313 c.5013G>A c.(5011-5013)agG>agA p.R1671R GREB1_ENST00000234142.5_Silent_p.R1671R|GREB1_ENST00000396123.1_Silent_p.R669R NM_014668.3 NP_055483.2 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 1671 integral to membrane breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1) 30 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) GGTCGGAAAGGAACGTGTCTT 0.617000 35 73 0 0 1 0 0 RFPL1 5988 broad.mit.edu 37 22 29837951 29837951 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr22:29837951C>T ENST00000354373.2 + 2 1003 c.794C>T c.(793-795)tCc>tTc p.S265F RFPL1S_ENST00000461286.2_RNA NM_021026.2 NP_066306.2 O75677 RFPL1_HUMAN ret finger protein-like 1 265 B30.2/SPRY. zinc ion binding endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 16 GAAGGTGGTTCCCATGTCTAT 0.473000 27 45 0 0 1 0 0 SELP 6403 broad.mit.edu 37 1 169578792 169578792 + Missense_Mutation SNP A A G TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:169578792A>G ENST00000263686.6 - 8 1320 c.1283T>C c.(1282-1284)gTt>gCt p.V428A SELP_ENST00000367792.2_Missense_Mutation_p.V366A|SELP_ENST00000367794.2_Missense_Mutation_p.V366A|SELP_ENST00000458599.2_Missense_Mutation_p.V366A|SELP_ENST00000367791.2_Intron|SELP_ENST00000367793.2_Missense_Mutation_p.V366A|SELP_ENST00000367786.2_Missense_Mutation_p.V366A|SELP_ENST00000367788.2_Missense_Mutation_p.V366A NM_003005.3 NP_002996.2 P16109 LYAM3_HUMAN selectin P (granule membrane protein 140kDa, antigen CD62) 428 Sushi 4. 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) ATCACACCGAACTATATCGGC 0.498000 15 46 0 0 1 0 0 SSTR2 6752 broad.mit.edu 37 17 71166355 71166355 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:71166355C>T ENST00000357585.2 + 2 1266 c.897C>T c.(895-897)gtC>gtT p.V299V SSTR2_ENST00000315332.2_Silent_p.V299V|RP11-143K11.5_ENST00000580671.1_RNA NM_001050.2 NP_001041.1 P30874 SSR2_HUMAN somatostatin receptor 2 299 digestion|negative regulation of cell proliferation|response to nutrient integral to plasma membrane PDZ domain binding|somatostatin receptor activity endometrium(2)|large_intestine(5)|lung(2)|prostate(2) 11 LUSC - Lung squamous cell carcinoma(166;0.197) TTGTGGTGGTCCTCACCTATG 0.493000 35 50 0 0 1 0 0 ARG1 383 broad.mit.edu 37 6 131900308 131900308 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr6:131900308C>T ENST00000368087.3 + 3 327 c.188C>T c.(187-189)cCc>cTc p.P63L ARG1_ENST00000498260.1_3'UTR|ARG1_ENST00000476845.1_Missense_Mutation_p.P63L|ARG1_ENST00000356962.2_Missense_Mutation_p.P71L|MED23_ENST00000354577.4_Intron P05089 ARGI1_HUMAN arginase 1 63 arginine catabolic process|urea cycle cytosol arginase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|skin(3) 14 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0106)|OV - Ovarian serous cystadenocarcinoma(155;0.0713) L-Ornithine(DB00129) AATGACAGTCCCTTTCAAATT 0.428000 23 15 0 0 1 0 0 EPOR 2057 broad.mit.edu 37 19 11489349 11489349 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:11489349G>A ENST00000592375.2 - 7 1037 c.933C>T c.(931-933)gtC>gtT p.V311V EPOR_ENST00000222139.6_Intron P19235 EPOR_HUMAN erythropoietin receptor 0 extracellular region|integral to plasma membrane erythropoietin receptor activity|identical protein binding endometrium(1)|lung(2)|ovary(1)|urinary_tract(1) 5 Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016) GCACTGAGGGGACAACCAGGC 0.567000 27 20 0 0 1 0 0 IGHV3OR16-9 28307 broad.mit.edu 37 16 33647518 33647518 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr16:33647518C>T ENST00000558425.1 - 2 81 c.82G>A c.(82-84)Gga>Aga p.G28R ACCAAGCCTCCCCCAGACTCC 0.562000 34 70 0 0 1 0 0 RNF43 54894 broad.mit.edu 37 17 56448301 56448301 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:56448301G>A ENST00000584437.1 - 2 2301 c.346C>T c.(346-348)Ccc>Tcc p.P116S RNF43_ENST00000577716.1_Missense_Mutation_p.P116S|RNF43_ENST00000583753.1_Intron|RNF43_ENST00000500597.2_Intron|RNF43_ENST00000581868.1_5'UTR|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000407977.2_Missense_Mutation_p.P116S|RNF43_ENST00000577625.1_5'UTR Q68DV7 RNF43_HUMAN ring finger protein 43 116 endoplasmic reticulum membrane|integral to membrane|nuclear envelope ligase activity|protein binding|zinc ion binding NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4) 60 Medulloblastoma(34;0.127)|all_neural(34;0.237) CAGGGGCGGGGGGCCCGTCGA 0.602000 24 42 0 0 1 0 0 PCDHB14 56122 broad.mit.edu 37 5 140605029 140605029 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:140605029C>T ENST00000239449.4 + 1 1952 c.1952C>T c.(1951-1953)cCt>cTt p.P651L PCDHB14_ENST00000515856.2_Missense_Mutation_p.P498L NM_018934.2 NP_061757.1 Q9Y5E9 PCDBE_HUMAN 651 Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1) 49 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGCGAGCCTCCTCGCTCGGCC 0.726000 21 17 0 0 1 0 0 FASN 2194 broad.mit.edu 37 17 80046140 80046140 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:80046140G>A ENST00000306749.2 - 17 2855 c.2637C>T c.(2635-2637)acC>acT p.T879T NM_004104.4 NP_004095.4 P49327 FAS_HUMAN fatty acid synthase 879 energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process cytosol|Golgi apparatus|melanosome|plasma membrane 3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1) 34 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237) Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339) GACCGTCGAGGGTGTGGTCCA 0.677000 21 23 0 0 1 0 0 SLC25A47 283600 broad.mit.edu 37 14 100795098 100795098 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr14:100795098C>T ENST00000361529.3 + 5 441 c.363C>T c.(361-363)gtC>gtT p.V121V SLC25A47_ENST00000557052.1_5'UTR NM_207117.2 NP_997000.2 Q6Q0C1 S2547_HUMAN solute carrier family 25, member 47 121 transmembrane transport integral to membrane|mitochondrial inner membrane binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1) 13 TGGCCAAAGTCCGCTTGCAGA 0.677000 28 43 0 0 1 0 0 TWF1 5756 broad.mit.edu 37 12 44191151 44191151 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:44191151G>A ENST00000395510.2 - 7 843 c.714C>T c.(712-714)ttC>ttT p.F238F TWF1_ENST00000548315.1_Silent_p.F245F|TWF1_ENST00000325127.4_Silent_p.F272F|TWF1_ENST00000552521.1_Silent_p.F140F NM_001242397.1|NM_002822.4 NP_001229326.1|NP_002813.3 Q12792 TWF1_HUMAN twinfilin actin-binding protein 1 238 ADF-H 2. actin cytoskeleton|cytoplasm actin binding|protein tyrosine kinase activity endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|stomach(1) 14 all_cancers(12;0.00125) Lung NSC(34;0.0804)|all_lung(34;0.181) GBM - Glioblastoma multiforme(48;0.0474) TATACAGAAAGAAATGGTAAC 0.313000 23 54 0 0 1 0 0 HEPACAM2 253012 broad.mit.edu 37 7 92848478 92848478 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:92848478C>T ENST00000394468.2 - 2 443 c.366G>A c.(364-366)gtG>gtA p.V122V HEPACAM2_ENST00000341723.4_Silent_p.V110V|HEPACAM2_ENST00000440868.1_Silent_p.V110V|HEPACAM2_ENST00000453812.2_Silent_p.V145V NM_001039372.1 NP_001034461.1 A8MVW5 HECA2_HUMAN HEPACAM family member 2 122 integral to membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1) 28 TGTTGACCTTCACGATGTAAT 0.478000 37 32 0 0 1 0 0 MDM1 56890 broad.mit.edu 37 12 68716966 68716966 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:68716966G>A ENST00000303145.7 - 5 774 c.688C>T c.(688-690)Cat>Tat p.H230Y MDM1_ENST00000411698.2_Missense_Mutation_p.H185Y|MDM1_ENST00000540418.1_5'UTR NM_017440.4 NP_059136.2 Q8TC05 MDM1_HUMAN Mdm1 nuclear protein homolog (mouse) 230 nucleus breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7) 33 Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018) GBM - Glioblastoma multiforme(7;0.000174) TCAGTTTCATGGATGACTGAG 0.299000 19 44 0 0 1 0 0 CD5 921 broad.mit.edu 37 11 60892578 60892578 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:60892578G>A ENST00000347785.3 + 9 1520 c.1354G>A c.(1354-1356)Gaa>Aaa p.E452K NM_014207.3 NP_055022.2 P06127 CD5_HUMAN CD5 molecule 452 cell proliferation|cell recognition integral to plasma membrane scavenger receptor activity central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05) BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528) CGTGGATAACGAATACAGCCA 0.607000 14 33 0 0 1 0 0 POGZ 23126 broad.mit.edu 37 1 151396657 151396657 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:151396657G>A ENST00000271715.2 - 9 1605 c.1291C>T c.(1291-1293)Cct>Tct p.P431S POGZ_ENST00000368863.2_Missense_Mutation_p.P336S|POGZ_ENST00000361398.3_Missense_Mutation_p.P378S|POGZ_ENST00000531094.1_Missense_Mutation_p.P369S|POGZ_ENST00000491586.1_Missense_Mutation_p.P378S|POGZ_ENST00000540984.1_Intron|POGZ_ENST00000409503.1_Missense_Mutation_p.P422S|POGZ_ENST00000392723.1_Missense_Mutation_p.P378S NM_001194937.1|NM_015100.3 NP_001181866.1|NP_055915.2 Q7Z3K3 POGZ_HUMAN pogo transposable element with ZNF domain 431 cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent cytoplasm|nuclear chromatin DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 47 Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) GAAGCAACAGGAGCTGTTTTC 0.517000 27 77 0 0 1 0 0 SVEP1 79987 broad.mit.edu 37 9 113173408 113173408 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr9:113173408G>A ENST00000401783.2 - 37 6919 c.6583C>T c.(6583-6585)Cct>Tct p.P2195S SVEP1_ENST00000374469.1_Missense_Mutation_p.P2172S|SVEP1_ENST00000297826.5_Missense_Mutation_p.P121S NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 2195 Sushi 13. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 GTCGGTATAGGACTACTCCAC 0.502000 29 23 0 0 1 0 0 DOCK11 139818 broad.mit.edu 37 X 117712611 117712611 + Splice_Site SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:117712611G>A ENST00000276204.6 + 13 1586 c.e13+1 DOCK11_ENST00000276202.7_Splice_Site|DOCK11_ENST00000498252.1_Splice_Site Q5JSL3 DOC11_HUMAN dedicator of cytokinesis 11 blood coagulation cytosol GTP binding breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 84 TCCAGTAAAGGTAATTTATAA 0.328000 21 30 0 0 1 0 0 FAM47A 158724 broad.mit.edu 37 X 34148928 34148928 + Missense_Mutation SNP T T C TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:34148928T>C ENST00000346193.3 - 1 1519 c.1468A>G c.(1468-1470)Agt>Ggt p.S490G NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 490 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 GAGTGGAGACTGGACCTCCGA 0.642000 34 87 0 0 1 0 0 HAX1 10456 broad.mit.edu 37 1 154246418 154246418 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:154246418C>T ENST00000328703.7 + 3 698 c.485C>T c.(484-486)tCc>tTc p.S162F HAX1_ENST00000532105.1_Missense_Mutation_p.S34F|HAX1_ENST00000457918.2_Missense_Mutation_p.S114F|HAX1_ENST00000483970.2_Missense_Mutation_p.S170F NM_006118.3 NP_006109.2 O00165 HAX1_HUMAN HCLS1 associated protein X-1 162 Involved in HCLS1 binding. actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction interleukin-1 binding|protein N-terminus binding cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1) 15 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) GACTGGGGCTCCCAGAGGCCA 0.527000 Kostmann syndrome 36 33 0 0 1 0 0 CC2D1A 54862 broad.mit.edu 37 19 14031425 14031425 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:14031425C>T ENST00000318003.7 + 13 1653 c.1412C>T c.(1411-1413)cCc>cTc p.P471L CC2D1A_ENST00000589606.1_Missense_Mutation_p.P471L NM_017721.4 NP_060191.3 Q6P1N0 C2D1A_HUMAN coiled-coil and C2 domain containing 1A 471 positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus|plasma membrane DNA binding|signal transducer activity NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2) 27 OV - Ovarian serous cystadenocarcinoma(19;3.49e-23) TCAAGAACTCCCCAGTCGGGA 0.622000 8 12 0 0 1 0 0 LAMA1 284217 broad.mit.edu 37 18 6950940 6950940 + Silent SNP G G A rs150815120 TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr18:6950940G>A ENST00000389658.3 - 58 8331 c.8238C>T c.(8236-8238)ttC>ttT p.F2746F NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 2746 Laminin G-like 4. F -> L (in Ref. 4). axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) CGCTGGAGGCGAACGTGCGGA 0.507000 11 19 0 0 1 0 0 KNSTRN 90417 broad.mit.edu 37 15 40675103 40675103 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr15:40675103G>A ENST00000416151.2 + 1 182 c.67G>A c.(67-69)Gat>Aat p.D23N KNSTRN_ENST00000448395.2_Missense_Mutation_p.D23N|KNSTRN_ENST00000249776.8_Missense_Mutation_p.D23N NM_001142761.1 NP_001136233.1 kinetochore-localized astrin/SPAG5 binding protein TACAGAGTGCGATTCCCACCC 0.567000 19 35 0 0 1 0 0 ZNF702P 79986 broad.mit.edu 37 19 53473764 53473764 + RNA SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:53473764C>T ENST00000600068.1 - 0 489 ZNF702P_ENST00000270443.4_RNA TATCAATTTTCCCTTTGCTCT 0.368000 22 46 0 0 1 0 0 HLTF 6596 broad.mit.edu 37 3 148786056 148786056 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:148786056C>T ENST00000310053.5 - 8 1154 c.961G>A c.(961-963)Gaa>Aaa p.E321K HLTF_ENST00000392912.2_Missense_Mutation_p.E321K|HLTF_ENST00000494055.1_Missense_Mutation_p.E321K|HLTF_ENST00000465259.1_Missense_Mutation_p.E321K NM_003071.3|NM_139048.2 NP_003062.2|NP_620636.1 Q14527 HLTF_HUMAN helicase-like transcription factor 321 chromatin modification|transcription, DNA-dependent nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 47 LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) TTAACTCTTTCAATAGGAAGA 0.328000 52 101 0 0 1 0 0 LHB 3972 broad.mit.edu 37 19 49519457 49519457 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:49519457G>A ENST00000221421.2 - 3 293 c.294C>T c.(292-294)ccC>ccT p.P98P NM_000894.2 NP_000885.1 P01229 LSHB_HUMAN luteinizing hormone beta polypeptide 98 cell-cell signaling|cellular nitrogen compound metabolic process|male gonad development|peptide hormone processing|progesterone biosynthetic process|signal transduction extracellular region|soluble fraction hormone activity cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1) 8 all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427) Lutropin alfa(DB00044)|Menotropins(DB00032) AGGAGACCACGGGGTCCACAC 0.677000 39 70 0 0 1 0 0 CDH23 64072 broad.mit.edu 37 10 73450305 73450305 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:73450305G>A ENST00000224721.6 + 19 2160 c.2155G>A c.(2155-2157)Gaa>Aaa p.E719K CDH23_ENST00000299366.7_Missense_Mutation_p.E759K NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 714 Cadherin 7. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding p.E719K(1) NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 CTACTCCTTGGAAGGCTCCAC 0.622000 6 11 0 0 1 0 0 ZNF333 84449 broad.mit.edu 37 19 14829728 14829728 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:14829728G>A ENST00000292530.6 + 12 1680 c.1589G>A c.(1588-1590)gGg>gAg p.G530E ZNF333_ENST00000540689.2_Intron|ZNF333_ENST00000536363.1_Missense_Mutation_p.G421E NM_032433.2 NP_115809.1 Q96JL9 ZN333_HUMAN zinc finger protein 333 530 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1) 21 ATACACACAGGGGAGAAACTG 0.522000 16 46 0 0 1 0 0 TTC25 83538 broad.mit.edu 37 17 40091559 40091559 + RNA SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:40091559G>A ENST00000591658.1 + 0 272 Q96NG3 TTC25_HUMAN tetratricopeptide repeat domain 25 cytoplasm protein binding endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1) 12 all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236) GATCCCTGAAGGATGCTGAGG 0.527000 17 23 0 0 1 0 0 GAS2L1 10634 broad.mit.edu 37 22 29708406 29708406 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr22:29708406C>T ENST00000406549.3 + 6 1435 c.1285C>T c.(1285-1287)Ccc>Tcc p.P429S GAS2L1_ENST00000407647.2_3'UTR|GAS2L1_ENST00000403764.1_3'UTR|GAS2L1_ENST00000360113.2_3'UTR|GAS2L1_ENST00000407854.1_3'UTR|GAS2L1_ENST00000471961.1_3'UTR Q99501 GA2L1_HUMAN growth arrest-specific 2 like 1 656 cell cycle arrest cytoplasm|cytoskeleton endometrium(2)|lung(2)|prostate(1) 5 CCCCCGCCGCCCCTCCGGACC 0.672000 12 19 0 0 1 0 0 LRRC37A11P 342666 broad.mit.edu 37 17 37187872 37187872 + RNA SNP A A G TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:37187872A>G ENST00000425901.2 + 0 1714 NR_033753.2 TCACAGTTCAACCTTTGGATC 0.488000 20 34 0 0 1 0 0 SLC35B2 347734 broad.mit.edu 37 6 44224579 44224579 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr6:44224579G>A ENST00000393812.3 - 2 191 c.48C>T c.(46-48)tcC>tcT p.S16S SLC35B2_ENST00000537814.1_Intron|SLC35B2_ENST00000393810.1_Silent_p.S16S|SLC35B2_ENST00000495706.1_Intron|SLC35B2_ENST00000538577.1_5'UTR NM_178148.2 NP_835361.1 Q8TB61 S35B2_HUMAN solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2 16 positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1) 15 all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) CTGCCCCTAGGGAGGGGAACG 0.607000 8 38 0 0 1 0 0 SCN1B 6324 broad.mit.edu 37 19 35524767 35524767 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:35524767G>A ENST00000415950.3 + 3 572 c.572G>A c.(571-573)cGg>cAg p.R191Q SCN1B_ENST00000595652.1_Intron|SCN1B_ENST00000596348.1_Intron|SCN1B_ENST00000262631.5_Intron NM_199037.3 NP_950238.1 Q07699 SCN1B_HUMAN sodium channel, voltage-gated, type I, beta subunit 0 axon guidance|synaptic transmission integral to membrane voltage-gated sodium channel activity breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3) 11 all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) CCACAGCAGCGGGCTGAGGGG 0.657000 7 10 0 0 1 0 0 FAM53A 152877 broad.mit.edu 37 4 1643077 1643077 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr4:1643077C>T ENST00000308132.6 - 5 1332 c.1140G>A c.(1138-1140)gaG>gaA p.E380E FAM53A_ENST00000489363.1_3'UTR|FAM53A_ENST00000472884.2_Silent_p.E380E|FAM53A_ENST00000461064.1_Silent_p.E380E NM_001174070.1 NP_001167541.1 Q6NSI3 FA53A_HUMAN family with sequence similarity 53, member A 380 nucleus breast(2)|central_nervous_system(2)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 all_epithelial(65;0.206)|Breast(71;0.212) OV - Ovarian serous cystadenocarcinoma(23;0.0145) GGAAGACGCCCTCCTCCCCGA 0.697000 10 35 0 0 1 0 0 NACA 4666 broad.mit.edu 37 12 57112046 57112046 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:57112046G>A ENST00000454682.1 - 3 3549 c.3268C>T c.(3268-3270)Cca>Tca p.P1090S NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000393891.4_Intron NM_001113203.2 NP_001106674.2 Q13765 NACA_HUMAN nascent polypeptide-associated complex alpha subunit 0 interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation nascent polypeptide-associated complex|nucleus DNA binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1) 10 CCTCCTTTTGGGGAGGGAGGA 0.657000 T BCL6 NHL 30 51 0 0 1 0 0 GRIN3A 116443 broad.mit.edu 37 9 104449125 104449125 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr9:104449125G>A ENST00000361820.3 - 2 1657 c.1057C>T c.(1057-1059)Cgt>Tgt p.R353C NM_133445.2 NP_597702.2 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, N-methyl-D-aspartate 3A 353 response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1) 80 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) AGCACCCAACGAAGTTCAGGG 0.512000 26 6 0 0 1 0 0 COL6A3 1293 broad.mit.edu 37 2 238296310 238296310 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:238296310C>T ENST00000295550.4 - 4 1679 c.1227G>A c.(1225-1227)ggG>ggA p.G409G COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000392003.2_Intron|COL6A3_ENST00000409809.1_Silent_p.G203G|COL6A3_ENST00000392004.3_Silent_p.G203G|COL6A3_ENST00000347401.3_Intron|COL6A3_ENST00000353578.4_Silent_p.G203G|COL6A3_ENST00000346358.4_Silent_p.G409G NM_004369.3 NP_004360.2 P12111 CO6A3_HUMAN collagen, type VI, alpha 3 409 Nonhelical region.|VWFA 2. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) CCTGGAGGTCCCCAAAGCTAC 0.532000 7 10 0 0 1 0 0 CYP4F2 8529 broad.mit.edu 37 19 15997098 15997098 + Missense_Mutation SNP T T A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:15997098T>A ENST00000221700.5 - 8 1034 c.939A>T c.(937-939)ttA>ttT p.L313F CYP4F2_ENST00000592328.1_Missense_Mutation_p.L313F|CYP4F2_ENST00000011989.7_Intron NM_001082.3 NP_001073.3 P78329 CP4F2_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 2 313 leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 CCTCATCAGATAACTTCTTCC 0.537000 91 136 0 0 1 0 0 IKZF4 64375 broad.mit.edu 37 12 56428581 56428581 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:56428581C>T ENST00000262032.5 + 12 1591 c.1224C>T c.(1222-1224)ccC>ccT p.P408P RP11-603J24.4_ENST00000551846.1_RNA|IKZF4_ENST00000547791.1_Silent_p.P363P|IKZF4_ENST00000547167.1_Silent_p.P408P|IKZF4_ENST00000431367.2_Silent_p.P306P Q9H2S9 IKZF4_HUMAN IKAROS family zinc finger 4 (Eos) 408 negative regulation of transcription, DNA-dependent nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1) 8 UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123) AGATGCAGCCCCTCCCTGGTC 0.632000 23 31 0 0 1 0 0 APOL5 80831 broad.mit.edu 37 22 36123124 36123124 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr22:36123124G>A ENST00000249044.2 + 3 1009 c.1009G>A c.(1009-1011)Gag>Aag p.E337K NM_030642.1 NP_085145.1 Q9BWW9 APOL5_HUMAN apolipoprotein L, 5 337 lipid metabolic process|lipid transport|lipoprotein metabolic process cytoplasm|extracellular region high-density lipoprotein particle binding|lipid binding|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1) 19 TAAGAAGCTGGAGCAGGAGCT 0.622000 16 27 0 0 1 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37419291 37419291 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:37419291C>T ENST00000374660.1 + 3 426 c.327C>T c.(325-327)atC>atT p.I109I ANKRD30A_ENST00000602533.1_Silent_p.I109I|ANKRD30A_ENST00000361713.1_Silent_p.I109I Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 165 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 GTGCAGTCATCGAAGTGCACA 0.353000 23 28 0 0 1 0 0 TBL3 10607 broad.mit.edu 37 16 2025848 2025848 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr16:2025848C>T ENST00000568546.1 + 11 1155 c.1027C>T c.(1027-1029)Ctt>Ttt p.L343F NM_006453.2 NP_006444.2 Q12788 TBL3_HUMAN transducin (beta)-like 3 343 G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing nucleolus|small-subunit processome receptor signaling protein activity breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1) 18 TGTCCGGTTTCTTGGGCCCGA 0.607000 49 62 0 0 1 0 0 TRAV8-3 28683 broad.mit.edu 37 14 22321084 22321084 + RNA SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr14:22321084G>A ENST00000390435.1 + 0 242 GGCATTAAAGGCTTTGAGGCT 0.502000 18 28 0 0 1 0 0 EPB41L1 2036 broad.mit.edu 37 20 34809819 34809819 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr20:34809819G>A ENST00000338074.2 + 20 2634 c.2473G>A c.(2473-2475)Gag>Aag p.E825K EPB41L1_ENST00000373946.3_Missense_Mutation_p.E645K|EPB41L1_ENST00000373941.1_Missense_Mutation_p.E824K|EPB41L1_ENST00000441639.1_Missense_Mutation_p.E723K|EPB41L1_ENST00000202028.5_Missense_Mutation_p.E723K|EPB41L1_ENST00000373950.2_Missense_Mutation_p.E716K NM_001258329.1|NM_012156.2 NP_001245258.1|NP_036288.2 Q9H4G0 E41L1_HUMAN erythrocyte membrane protein band 4.1-like 1 825 Carboxyl-terminal (CTD). cortical actin cytoskeleton organization|synaptic transmission cytoskeleton|cytosol|extrinsic to membrane|plasma membrane actin binding|structural molecule activity breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 37 Breast(12;0.0239) GACAAGGATCGAGAAGCGAAT 0.552000 36 69 0 0 1 0 0 NNT 23530 broad.mit.edu 37 5 43651923 43651923 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:43651923C>T ENST00000264663.5 + 13 2021 c.1800C>T c.(1798-1800)ctC>ctT p.L600L NNT_ENST00000512996.2_Silent_p.L469L|NNT_ENST00000344920.4_Silent_p.L600L NM_012343.3 NP_036475.3 Q13423 NNTM_HUMAN nicotinamide nucleotide transhydrogenase 600 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) TGTACCTGCTCCCTGCCGGCA 0.453000 56 105 0 0 1 0 0 BCAP31 10134 broad.mit.edu 37 X 152981081 152981081 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:152981081G>A ENST00000458587.2 - 4 887 c.458C>T c.(457-459)cCc>cTc p.P153L BCAP31_ENST00000345046.6_Missense_Mutation_p.P86L|BCAP31_ENST00000477175.1_5'UTR|BCAP31_ENST00000441714.1_Missense_Mutation_p.P86L NM_001139441.1|NM_001139457.2 NP_001132913.1|NP_001132929.1 P51572 BAP31_HUMAN B-cell receptor-associated protein 31 86 cellular component disassembly involved in apoptosis|immune response|intracellular protein transport|vesicle-mediated transport cytosol|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to plasma membrane receptor binding endometrium(2)|large_intestine(2)|lung(2)|prostate(1) 7 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CATGGCCCCGGGATTGTTCTG 0.537000 57 97 0 0 1 0 0 GPC6 10082 broad.mit.edu 37 13 94938602 94938602 + Splice_Site SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr13:94938602G>A ENST00000377047.4 + 5 1492 c.e5-1 NM_005708.3 NP_005699.1 Q9Y625 GPC6_HUMAN glypican 6 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 38 all_neural(89;0.0684)|Medulloblastoma(90;0.163) all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217) TATTTTAACAGATGCAATGCT 0.418000 10 24 0 0 1 0 0 ZNF792 126375 broad.mit.edu 37 19 35450170 35450170 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:35450170G>A ENST00000404801.1 - 4 975 c.589C>T c.(589-591)Cct>Tct p.P197S ZNF792_ENST00000605484.1_Missense_Mutation_p.P130S NM_175872.4 NP_787068.3 Q3KQV3 ZN792_HUMAN zinc finger protein 792 197 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5) 12 all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) GTCTTTACAGGGGAAGCCTGG 0.552000 73 138 0 0 1 0 0 PCLO 27445 broad.mit.edu 37 7 82763683 82763683 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:82763683G>A ENST00000423517.2 - 3 3520 c.3183C>T c.(3181-3183)ctC>ctT p.L1061L PCLO_ENST00000333891.8_Silent_p.L1061L NM_014510.2 NP_055325.2 Q9Y6V0 PCLO_HUMAN piccolo presynaptic cytomatrix protein 1007 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2) 259 CAGTTTTGCAGAGAGGACAGG 0.418000 14 19 0 0 1 0 0 PTCD2 79810 broad.mit.edu 37 5 71648571 71648571 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:71648571C>T ENST00000380639.5 + 9 948 c.932C>T c.(931-933)tCg>tTg p.S311L PTCD2_ENST00000543322.1_3'UTR|PTCD2_ENST00000503868.1_Missense_Mutation_p.S202L|PTCD2_ENST00000460837.2_3'UTR|PTCD2_ENST00000536805.1_Missense_Mutation_p.S139L NM_024754.3 NP_079030.3 Q8WV60 PTCD2_HUMAN pentatricopeptide repeat domain 2 311 breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(1)|skin(1) 11 Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;1.73e-53) CATGTGTTCTCGGAGGAAGTG 0.333000 13 15 0 0 1 0 0 ABCC1 4363 broad.mit.edu 37 16 16218718 16218718 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr16:16218718C>T ENST00000399408.2 + 26 3868 c.3693C>T c.(3691-3693)tcC>tcT p.S1231S ABCC1_ENST00000349029.5_Silent_p.S1106S|ABCC1_ENST00000345148.5_Silent_p.S1221S|ABCC1_ENST00000346370.5_Silent_p.S1165S|ABCC1_ENST00000399410.3_Silent_p.S1221S|ABCC1_ENST00000351154.5_Silent_p.S1162S P33527 MRP1_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 1 1221 ABC transmembrane type-1 2. 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) CGGTGATCTCCAGGCACAGCC 0.557000 23 42 0 0 1 0 0 L3MBTL2 83746 broad.mit.edu 37 22 41625593 41625593 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr22:41625593G>A ENST00000216237.5 + 16 2096 c.1938G>A c.(1936-1938)aaG>aaA p.K646K CHADL_ENST00000216241.9_3'UTR NM_031488.4 NP_113676.2 Q969R5 LMBL2_HUMAN l(3)mbt-like 2 (Drosophila) 646 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus methylated histone residue binding|transcription corepressor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 AGGGGTCCAAGAAGCCCCTGC 0.557000 17 27 0 0 1 0 0 CDK1 983 broad.mit.edu 37 10 62553652 62553652 + Missense_Mutation SNP T T G TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:62553652T>G ENST00000448257.2 + 8 1014 c.813T>G c.(811-813)gaT>gaG p.D271E CDK1_ENST00000395284.3_Missense_Mutation_p.D271E|CDK1_ENST00000316629.4_Missense_Mutation_p.D214E|CDK1_ENST00000373809.2_Missense_Mutation_p.D214E P06493 CDK1_HUMAN cyclin-dependent kinase 1 271 Protein kinase. activation of MAPK activity|activation of MAPKK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|axon guidance|cell division|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|mitosis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein localization to kinetochore|Ras protein signal transduction|regulation of transcription involved in G1/S phase of mitotic cell cycle|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|midbody|nucleoplasm|spindle microtubule ATP binding|cyclin-dependent protein kinase activity|RNA polymerase II carboxy-terminal domain kinase activity ovary(1) 1 TAATCTATGATCCAGCCAAAC 0.294000 22 31 0 0 1 0 0 CPA6 57094 broad.mit.edu 37 8 68334806 68334806 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:68334806G>A ENST00000297770.4 - 11 1462 c.1247C>T c.(1246-1248)cCc>cTc p.P416L CPA6_ENST00000297769.4_Missense_Mutation_p.P172L NM_020361.4 NP_065094.3 Q8N4T0 CBPA6_HUMAN carboxypeptidase A6 416 proteolysis proteinaceous extracellular matrix metallocarboxypeptidase activity|zinc ion binding NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5) 26 Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136) TGTACAGGTGGGTTTGATGAG 0.433000 55 90 0 0 1 0 0 LRRIQ3 127255 broad.mit.edu 37 1 74492517 74492517 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:74492517G>A ENST00000354431.4 - 8 2046 c.1855C>T c.(1855-1857)Ccc>Tcc p.P619S LRRIQ3_ENST00000395089.1_Missense_Mutation_p.P619S NM_001105659.1 NP_001099129.1 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 619 NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5) 73 AGTCCATTGGGAACTTTAAAG 0.289000 7 22 0 0 1 0 0 STAG2 10735 broad.mit.edu 37 X 123217344 123217344 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:123217344C>T ENST00000371160.1 + 29 3288 c.2998C>T c.(2998-3000)Ctt>Ttt p.L1000F STAG2_ENST00000371157.3_Missense_Mutation_p.L1000F|STAG2_ENST00000218089.9_Missense_Mutation_p.L1000F|STAG2_ENST00000354548.5_Missense_Mutation_p.L931F|STAG2_ENST00000371145.3_Missense_Mutation_p.L1000F|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371144.3_Missense_Mutation_p.L1000F Q8N3U4 STAG2_HUMAN stromal antigen 2 1000 cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion chromatin|chromosome, centromeric region|nucleoplasm protein binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4) 78 TTTGGCATTTCTTGATATTCT 0.338000 39 58 0 0 1 0 0 SAG 6295 broad.mit.edu 37 2 234229350 234229350 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:234229350G>A ENST00000409110.1 + 5 486 c.256G>A c.(256-258)Gac>Aac p.D86N SAG_ENST00000461532.1_3'UTR|SAG_ENST00000449594.2_5'UTR NM_000541.4 NP_000532.2 P10523 ARRS_HUMAN S-antigen; retina and pineal gland (arrestin) 86 rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway protein phosphatase inhibitor activity cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 9 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054) Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207) CTTCCGCAGGGACCTGTACTT 0.587000 3 6 0 0 1 0 0 TBX2 6909 broad.mit.edu 37 17 59479268 59479268 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:59479268C>T ENST00000240328.3 + 2 900 c.619C>T c.(619-621)Cac>Tac p.H207Y RP11-332H18.4_ENST00000592009.1_RNA NM_005994.3 NP_005985.3 Q13207 TBX2_HUMAN T-box 2 207 cell aging|positive regulation of cell proliferation sequence-specific DNA binding endometrium(1)|lung(7)|ovary(1) 9 TGTGGCCTTCCACAAGCTGAA 0.617000 20 51 0 0 1 0 0 IL1RAPL2 26280 broad.mit.edu 37 X 104728346 104728346 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:104728346G>A ENST00000372582.1 + 6 1495 c.739G>A c.(739-741)Gag>Aag p.E247K IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.E247K NM_017416.1 NP_059112.1 Q9NP60 IRPL2_HUMAN interleukin 1 receptor accessory protein-like 2 247 Ig-like C2-type 3. central nervous system development|innate immune response integral to membrane interleukin-1, Type II, blocking receptor activity breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 GTTCCCCATGGAGAATCAGCC 0.408000 40 41 0 0 1 0 0 SYT11 23208 broad.mit.edu 37 1 155851257 155851257 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:155851257C>T ENST00000368324.4 + 4 1507 c.1254C>T c.(1252-1254)ccC>ccT p.P418P SYT11_ENST00000539162.1_Silent_p.P111P NM_152280.4 NP_689493.3 Q9BT88 SYT11_HUMAN synaptotagmin XI 418 cell junction|synaptic vesicle membrane protein binding|transporter activity breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195) OV - Ovarian serous cystadenocarcinoma(3;0.000162) GCGAGAGCCCCCGCAAGCCTG 0.607000 28 57 0 0 1 0 0 BSND 7809 broad.mit.edu 37 1 55474243 55474243 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:55474243G>A ENST00000371265.4 + 4 1159 c.905G>A c.(904-906)gGa>gAa p.G302E NM_057176.2 NP_476517.1 Q8WZ55 BSND_HUMAN Bartter syndrome, infantile, with sensorineural deafness (Barttin) 302 basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 17 CTGCCAGATGGAGCCGGGGAC 0.577000 43 45 0 0 1 0 0 GPRIN1 114787 broad.mit.edu 37 5 176026126 176026126 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:176026126G>A ENST00000303991.4 - 2 887 c.710C>T c.(709-711)tCt>tTt p.S237F NM_052899.2 NP_443131.2 Q7Z2K8 GRIN1_HUMAN G protein regulated inducer of neurite outgrowth 1 237 Missing (in Ref. 4; CAD38868). growth cone|plasma membrane NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142) Medulloblastoma(196;0.0208)|all_neural(177;0.0416) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) CTTTCTCAAAGACCCAGGATC 0.488000 62 17 0 0 1 0 0 RBM42 79171 broad.mit.edu 37 19 36125268 36125268 + Nonsense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:36125268G>A ENST00000262633.4 + 8 1233 c.1128G>A c.(1126-1128)tgG>tgA p.W376* RBM42_ENST00000592202.1_Nonsense_Mutation_p.W322*|RBM42_ENST00000588161.1_Nonsense_Mutation_p.W346*|RBM42_ENST00000589871.1_Nonsense_Mutation_p.W354*|RBM42_ENST00000360475.4_Nonsense_Mutation_p.W347*|RBM42_ENST00000589559.1_Nonsense_Mutation_p.W347*|RBM42_ENST00000586618.1_Intron NM_024321.3 NP_077297.2 Q9BTD8 RBM42_HUMAN RNA binding motif protein 42 376 Necessary for interaction with HNRNPK (By similarity). cytoplasm|nucleus nucleotide binding|RNA binding breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1) 21 all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) TGCTGGAGTGGGATGCAGGTA 0.617000 15 18 0 0 1 0 0 NLRP8 126205 broad.mit.edu 37 19 56459380 56459380 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:56459380G>A ENST00000291971.3 + 1 183 c.112G>A c.(112-114)Gaa>Aaa p.E38K NLRP8_ENST00000590542.1_Missense_Mutation_p.E38K NM_176811.2 NP_789781.2 Q86W28 NALP8_HUMAN NLR family, pyrin domain containing 8 38 DAPIN. cytoplasm ATP binding breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 35 Colorectal(82;0.000147)|Ovarian(87;0.17) GBM - Glioblastoma multiforme(193;0.0695) CTCCCCATGTGAAAATGGGGT 0.527000 21 33 0 0 1 0 0 MYCT1 80177 broad.mit.edu 37 6 153019152 153019152 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr6:153019152C>T ENST00000367245.5 + 1 123 c.115C>T c.(115-117)Ctt>Ttt p.L39F MYCT1_ENST00000529453.1_Missense_Mutation_p.L39F NM_025107.2 NP_079383.2 Q8N699 MYCT1_HUMAN myc target 1 39 nucleus NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 20 Ovarian(120;0.0654) OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143) TTCTGTTTTTCTTCTCTTTCT 0.328000 14 7 0 0 1 0 0 LZTR1 8216 broad.mit.edu 37 22 21351208 21351208 + Missense_Mutation SNP G G C TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr22:21351208G>C ENST00000215739.8 + 20 2718 c.2359G>C c.(2359-2361)Gac>Cac p.D787H LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Missense_Mutation_p.D768H NM_006767.3 NP_006758.2 Q8N653 LZTR1_HUMAN leucine-zipper-like transcription regulator 1 787 anatomical structure morphogenesis sequence-specific DNA binding transcription factor activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3) 42 all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) GCAGGCACTGGACATGAAGCG 0.607000 25 31 0 0 1 0 0 CHST9 83539 broad.mit.edu 37 18 24496869 24496869 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr18:24496869C>T ENST00000284224.8 - 6 963 c.686G>A c.(685-687)aGa>aAa p.R229K AQP4-AS1_ENST00000578701.1_RNA|AQP4-AS1_ENST00000579964.1_RNA|CHST9_ENST00000580774.1_3'UTR|AQP4-AS1_ENST00000568797.1_RNA|CHST9_ENST00000581714.1_Missense_Mutation_p.R229K|AQP4-AS1_ENST00000582605.1_RNA NM_031422.5 NP_113610.2 Q7L1S5 CHST9_HUMAN carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9 229 carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process extracellular region|Golgi membrane|integral to membrane N-acetylgalactosamine 4-O-sulfotransferase activity breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3) 28 all_lung(6;0.0145)|Ovarian(20;0.124) CATCAGAATTCTTTTCCAATT 0.393000 42 60 0 0 1 0 0 FAM171B 165215 broad.mit.edu 37 2 187627043 187627043 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:187627043C>T ENST00000304698.5 + 8 2177 c.1974C>T c.(1972-1974)ctC>ctT p.L658L NM_177454.3 NP_803237.3 Q6P995 F171B_HUMAN family with sequence similarity 171, member B 658 integral to membrane DNA binding NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 AACAGACCCTCCTGGAGCTGT 0.493000 39 79 0 0 1 0 0 ARAF 369 broad.mit.edu 37 X 47429395 47429395 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:47429395C>T ENST00000377045.4 + 14 1717 c.1523C>T c.(1522-1524)cCt>cTt p.P508L ARAF_ENST00000470206.1_3'UTR NM_001256196.1|NM_001654.4 NP_001243125.1|NP_001645.1 P10398 ARAF_HUMAN v-raf murine sarcoma 3611 viral oncogene homolog 508 Protein kinase. intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1) 29 Adenosine triphosphate(DB00171) GGCTCACTGCCTTACAGCCAC 0.592000 8 15 0 0 1 0 0 OR5AK2 390181 broad.mit.edu 37 11 56756814 56756814 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:56756814C>T ENST00000326855.2 + 1 468 c.426C>T c.(424-426)atC>atT p.I142I NM_001005323.1 NP_001005323.1 Q8NH90 O5AK2_HUMAN olfactory receptor, family 5, subfamily AK, member 2 142 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 21 CAGTCTGCATCCGTTTGGTAG 0.448000 47 74 0 0 1 0 0 MTHFSD 64779 broad.mit.edu 37 16 86565692 86565692 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr16:86565692G>A ENST00000322911.6 - 8 1124 c.1074C>T c.(1072-1074)gtC>gtT p.V358V MTHFSD_ENST00000360900.6_Silent_p.V359V|MTHFSD_ENST00000381214.5_Silent_p.V359V|MTHFSD_ENST00000546093.1_Silent_p.V196V|MTHFSD_ENST00000543303.2_Silent_p.V358V NM_001159377.1|NM_022764.2 NP_001152849.1|NP_073601.2 Q2M296 MTHSD_HUMAN methenyltetrahydrofolate synthetase domain containing 359 RRM. folic acid-containing compound biosynthetic process 5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|RNA binding endometrium(1)|large_intestine(3)|lung(6)|skin(1) 11 GCAAGCAGGAGACGGCCTGCT 0.711000 11 11 0 0 1 0 0 PIK3R5 23533 broad.mit.edu 37 17 8785188 8785188 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:8785188C>T ENST00000447110.1 - 16 2340 c.2216G>A c.(2215-2217)aGt>aAt p.S739N PIK3R5_ENST00000581552.1_Missense_Mutation_p.S739N|PIK3R5_ENST00000584803.1_Missense_Mutation_p.S738N NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1 NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1 Q8WYR1 PI3R5_HUMAN phosphoinositide-3-kinase, regulatory subunit 5 739 Interaction with G beta gamma proteins (By similarity). platelet activation cytosol|membrane|nucleus breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1) 34 ACTTCGTCCACTGATGGCCCC 0.612000 10 13 0 0 1 0 0 TRERF1 55809 broad.mit.edu 37 6 42236688 42236688 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr6:42236688C>T ENST00000541110.1 - 5 1209 c.641G>A c.(640-642)gGt>gAt p.G214D TRERF1_ENST00000372917.4_Missense_Mutation_p.G214D|TRERF1_ENST00000372922.4_Missense_Mutation_p.G214D|TRERF1_ENST00000354325.2_Missense_Mutation_p.G214D|TRERF1_ENST00000340840.2_Missense_Mutation_p.G214D Q96PN7 TREF1_HUMAN transcriptional regulating factor 1 214 Gln-rich. cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process nucleus DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2) 45 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) GGACAGCCCACCAGTGAAACC 0.632000 4 49 0 0 1 0 0 KRT82 3888 broad.mit.edu 37 12 52797673 52797673 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:52797673C>T ENST00000257974.2 - 2 509 c.432G>A c.(430-432)aaG>aaA p.K144K NM_033033.3 NP_149022.3 Q9NSB4 KRT82_HUMAN keratin 82 144 Coil 1A.|Rod. keratin filament protein binding|structural constituent of epidermis endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 29 BRCA - Breast invasive adenocarcinoma(357;0.193) GCAGCTTGTTCTTCTGCTCCA 0.542000 19 19 0 0 1 0 0 KBTBD6 89890 broad.mit.edu 37 13 41705881 41705881 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr13:41705881G>A ENST00000379485.1 - 1 1001 c.767C>T c.(766-768)cCc>cTc p.P256L KBTBD6_ENST00000499385.2_Missense_Mutation_p.P190L NM_152903.4 NP_690867.3 Q86V97 KBTB6_HUMAN kelch repeat and BTB (POZ) domain containing 6 256 protein binding NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4) 43 Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114) all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673) TGCAGCACTGGGACCCCGCTC 0.572000 27 56 0 0 1 0 0 GBP5 115362 broad.mit.edu 37 1 89734500 89734500 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:89734500C>T ENST00000343435.5 - 4 766 c.230G>A c.(229-231)gGa>gAa p.G77E RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000370459.3_Missense_Mutation_p.G77E NM_001134486.2|NM_052942.3 NP_001127958.1|NP_443174.1 Q96PP8 GBP5_HUMAN guanylate binding protein 5 77 plasma membrane GTP binding|GTPase activity breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1) 24 all cancers(265;0.00784)|Epithelial(280;0.0286) TATCCAAATTCCCTTGGTGTG 0.488000 14 44 0 0 1 0 0 KLHL4 56062 broad.mit.edu 37 X 86773015 86773015 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:86773015G>A ENST00000373119.4 + 1 264 c.119G>A c.(118-120)gGa>gAa p.G40E KLHL4_ENST00000373114.4_Missense_Mutation_p.G40E NM_019117.4 NP_061990.2 Q9C0H6 KLHL4_HUMAN kelch-like family member 4 40 cytoplasm|microtubule cytoskeleton|nucleolus actin binding p.G40V(2) NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1) 67 CAGCAGGAAGGATATGAGCAT 0.488000 29 80 0 0 1 0 0 SLC18A1 6570 broad.mit.edu 37 8 20004780 20004780 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:20004780C>T ENST00000440926.1 - 16 1923 c.1453G>A c.(1453-1455)Gaa>Aaa p.E485K SLC18A1_ENST00000276373.5_Missense_Mutation_p.E485K|SLC18A1_ENST00000381608.4_Intron|SLC18A1_ENST00000265808.7_Missense_Mutation_p.E453K|SLC18A1_ENST00000519026.1_Missense_Mutation_p.E453K|SLC18A1_ENST00000437980.1_Intron NM_001135691.2 NP_001129163.1 P54219 VMAT1_HUMAN solute carrier family 18 (vesicular monoamine transporter), member 1 485 neurotransmitter transport clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction drug transmembrane transporter activity|monoamine transmembrane transporter activity central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1) 29 Colorectal(74;0.0747) AGCTTCTCTTCCTTTGCCGGG 0.488000 15 25 0 0 1 0 0 FYCO1 79443 broad.mit.edu 37 3 46008174 46008174 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:46008174G>A ENST00000296137.2 - 8 2857 c.2652C>T c.(2650-2652)tcC>tcT p.S884S FYCO1_ENST00000535325.1_Silent_p.S884S NM_024513.3 NP_078789.2 Q9BQS8 FYCO1_HUMAN FYVE and coiled-coil domain containing 1 884 transport integral to membrane metal ion binding|protein binding NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1) 54 BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323) GTGCTTCCTCGGAGCTGCATT 0.657000 13 23 0 0 1 0 0 TFDP1 7027 broad.mit.edu 37 13 114292093 114292093 + Missense_Mutation SNP C C G TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr13:114292093C>G ENST00000544902.1 + 10 1262 c.880C>G c.(880-882)Ctg>Gtg p.L294V TFDP1_ENST00000538138.1_Intron|TFDP1_ENST00000375370.5_Intron Q14186 TFDP1_HUMAN transcription factor Dp-1 358 DCB2.|Enhances binding of RB protein to E2F. cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter transcription factor complex DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 26 Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153) all cancers(43;0.0576) TGTGTTGTTTCTGTTTCATGA 0.488000 TSP Lung(29;0.18) 14 23 0 0 1 0 0 CCDC85A 114800 broad.mit.edu 37 2 56599550 56599550 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:56599550C>T ENST00000407595.2 + 4 1891 c.1389C>T c.(1387-1389)gcC>gcT p.A463A RP11-482H16.1_ENST00000607540.1_RNA NM_001080433.1 NP_001073902.1 Q96PX6 CC85A_HUMAN coiled-coil domain containing 85A 463 breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3) 38 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) GGTCCAGAGCCCGGCGGGTCT 0.517000 6 6 0 0 1 0 0 NUP188 23511 broad.mit.edu 37 9 131719260 131719260 + Missense_Mutation SNP A A T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr9:131719260A>T ENST00000372577.2 + 5 297 c.276A>T c.(274-276)ttA>ttT p.L92F RP11-101E3.5_ENST00000482796.1_Missense_Mutation_p.113_113insF|NUP188_ENST00000550219.1_3'UTR NM_015354.1 NP_056169.1 Q5SRE5 NU188_HUMAN nucleoporin 188kDa 92 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 60 GTGTGCAGTTACTCCAGTGTT 0.428000 46 24 0 0 1 0 0 LCE1F 353137 broad.mit.edu 37 1 152748972 152748972 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:152748972C>T ENST00000334371.2 + 1 125 c.125C>T c.(124-126)tCc>tTc p.S42F NM_178354.2 NP_848131.1 Q5T754 LCE1F_HUMAN late cornified envelope 1F 42 keratinization p.S42F(1) kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) ccTGTCTCTTCCTGCTGCAGC 0.677000 22 52 0 0 1 0 0 BCOR 54880 broad.mit.edu 37 X 39933389 39933389 + Nonsense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:39933389G>A ENST00000342274.4 - 4 1572 c.1210C>T c.(1210-1212)Cag>Tag p.Q404* BCOR_ENST00000397354.3_Nonsense_Mutation_p.Q404*|BCOR_ENST00000378455.4_Nonsense_Mutation_p.Q404*|BCOR_ENST00000378444.4_Nonsense_Mutation_p.Q404* NM_001123383.1 NP_001116855.1 Q6W2J9 BCOR_HUMAN BCL6 corepressor 404 heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent nucleus heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 126 GGCACTGGCTGGGCACCTTCG 0.592000 """F, N, S, T""" RARA """retinoblastoma, AML, APL(translocation)""" oculo-facio-cardio-dental genetic 21 24 0 0 1 0 0 FREM2 341640 broad.mit.edu 37 13 39266048 39266048 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr13:39266048C>T ENST00000280481.7 + 1 4783 c.4567C>T c.(4567-4569)Cgt>Tgt p.R1523C NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 1523 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) TCGGACATTCCGTATCTCCAT 0.423000 52 69 0 0 1 0 0 NFIC 4782 broad.mit.edu 37 19 3453854 3453854 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:3453854C>T ENST00000589123.1 + 9 1456 c.1336C>T c.(1336-1338)Ccc>Tcc p.P446S NFIC_ENST00000443272.2_Missense_Mutation_p.P455S|NFIC_ENST00000586919.1_Intron|NFIC_ENST00000395111.3_Intron|NFIC_ENST00000346156.5_Intron|NFIC_ENST00000341919.3_Intron|NFIC_ENST00000590282.1_Intron NM_001245005.1|NM_205843.2 NP_001231934.1|NP_995315.1 P08651 NFIC_HUMAN nuclear factor I/C (CCAAT-binding transcription factor) 455 DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 21 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191) GCTGGCGCTCCCCCCTGCCAC 0.677000 3 2 0 0 1 0 0 PCDHA13 56136 broad.mit.edu 37 5 140263101 140263101 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:140263101G>A ENST00000289272.2 + 1 1248 c.1248G>A c.(1246-1248)gaG>gaA p.E416E PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA13_ENST00000409494.1_Silent_p.E416E|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron NM_018904.2|NM_031865.1 NP_061727.1|NP_114071.1 NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGACCGCGAGAGCGTATCAG 0.642000 73 135 0 0 1 0 0 PPP3CA 5530 broad.mit.edu 37 4 101984395 101984395 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr4:101984395C>T ENST00000394854.3 - 9 1758 c.1075G>A c.(1075-1077)Gaa>Aaa p.E359K PPP3CA_ENST00000507176.1_Missense_Mutation_p.E261K|PPP3CA_ENST00000394853.4_Missense_Mutation_p.E359K|PPP3CA_ENST00000523694.2_Missense_Mutation_p.E292K|PPP3CA_ENST00000323055.6_Intron|PPP3CA_ENST00000512215.1_Missense_Mutation_p.E127K NM_000944.4 NP_000935.1 Q08209 PP2BA_HUMAN protein phosphatase 3, catalytic subunit, alpha isozyme 359 protein dephosphorylation calcineurin complex|cytosol|nucleus calcium ion binding|calmodulin binding breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 20 OV - Ovarian serous cystadenocarcinoma(123;6.79e-08) ATACCTTTTTCCCCAACAAAT 0.383000 13 23 0 0 1 0 0 CD97 976 broad.mit.edu 37 19 14513433 14513433 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:14513433C>T ENST00000242786.5 + 12 1288 c.1208C>T c.(1207-1209)tCc>tTc p.S403F CD97_ENST00000358600.3_Missense_Mutation_p.S310F|CD97_ENST00000357355.3_Missense_Mutation_p.S354F NM_078481.3 NP_510966.1 P48960 CD97_HUMAN CD97 molecule 403 cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway extracellular space|integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 GGCATCCTCTCCATCCAGAAC 0.572000 41 69 0 0 1 0 0 NLRP5 126206 broad.mit.edu 37 19 56549454 56549454 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:56549454C>T ENST00000390649.3 + 10 2679 c.2679C>T c.(2677-2679)tcC>tcT p.S893S NM_153447.4 NP_703148.4 P59047 NALP5_HUMAN NLR family, pyrin domain containing 5 893 mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) TTACGACCTCCCCCAGCCTGA 0.547000 27 28 0 0 1 0 0 GPAA1 8733 broad.mit.edu 37 8 145139721 145139721 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:145139721C>T ENST00000355091.4 + 8 1228 c.1107C>T c.(1105-1107)gtC>gtT p.V369V GPAA1_ENST00000361036.6_Silent_p.V309V NM_003801.3 NP_003792.1 O43292 GPAA1_HUMAN glycosylphosphatidylinositol anchor attachment 1 369 attachment of GPI anchor to protein|C-terminal protein lipidation|protein complex assembly|protein retention in ER lumen GPI-anchor transamidase complex tubulin binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2) 19 all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CCCGCTTCGTCTCCATCGGCC 0.602000 48 81 0 0 1 0 0 CHRM3 1131 broad.mit.edu 37 1 240071631 240071631 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:240071631G>A ENST00000255380.4 + 5 1659 c.880G>A c.(880-882)Gaa>Aaa p.E294K NM_000740.2 NP_000731.1 P20309 ACM3_HUMAN cholinergic receptor, muscarinic 3 294 cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1) 51 Ovarian(103;0.127) all_cancers(173;0.00567)|all_neural(198;0.203) OV - Ovarian serous cystadenocarcinoma(106;0.00989) Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505) CAGCAGTTACGAACTTCAACA 0.547000 14 36 0 0 1 0 0 SLC26A11 284129 broad.mit.edu 37 17 78197055 78197055 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:78197055C>T ENST00000361193.3 + 5 712 c.432C>T c.(430-432)ttC>ttT p.F144F SLC26A11_ENST00000546047.2_Silent_p.F144F|SLC26A11_ENST00000411502.3_Silent_p.F144F|SLC26A11_ENST00000572725.1_Silent_p.F144F NM_001166347.1|NM_173626.3 NP_001159819.1|NP_775897.3 Q86WA9 S2611_HUMAN solute carrier family 26 (anion exchanger), member 11 144 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 28 all_neural(118;0.0538) OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908) GGCCAGGGTTCCTGCTGGACT 0.617000 17 23 0 0 1 0 0 PRAMEF11 440560 broad.mit.edu 37 1 12884919 12884919 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:12884919G>A ENST00000535591.1 - 4 1387 c.1192C>T c.(1192-1194)Ctg>Ttg p.L398L NM_001146344.1 NP_001139816.1 O60813 PRA11_HUMAN PRAME family member 11 398 NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1) 27 TTCTTCATCAGCTCAGCCCTA 0.498000 59 127 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168115530 168115530 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:168115530G>A ENST00000409728.1 + 11 2662 c.2573G>A c.(2572-2574)gGa>gAa p.G858E XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409605.1_Missense_Mutation_p.G603E|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000420519.1_Missense_Mutation_p.G858E|XIRP2_ENST00000409756.2_Missense_Mutation_p.G825E|XIRP2_ENST00000409043.1_Missense_Mutation_p.G825E|XIRP2_ENST00000409195.1_3'UTR NM_001199143.1 NP_001186072.1 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 0 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 AACATTAAAGGAAGCCATTCA 0.378000 8 15 0 0 1 0 0 COL4A2 1284 broad.mit.edu 37 13 111138077 111138077 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr13:111138077G>A ENST00000360467.5 + 34 3407 c.3101G>A c.(3100-3102)gGa>gAa p.G1034E NM_001846.2 NP_001837.2 P08572 CO4A2_HUMAN collagen, type IV, alpha 2 1034 Triple-helical region. angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis collagen type IV extracellular matrix structural constituent|protein binding NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922) Breast(118;0.212) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151) CACATCAAAGGAGTCAAGGGA 0.612000 29 53 0 0 1 0 0 OR1G1 8390 broad.mit.edu 37 17 3030838 3030838 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:3030838C>T ENST00000328890.2 - 1 37 c.8G>A c.(7-9)gGg>gAg p.G3E NM_003555.1 NP_003546.1 P47890 OR1G1_HUMAN olfactory receptor, family 1, subfamily G, member 1 3 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(4)|lung(3)|skin(3) 11 CAGATTTTTCCCCTCCATTTG 0.463000 35 12 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 114290923 114290923 + Missense_Mutation SNP A A G TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:114290923A>G ENST00000297405.5 - 3 656 c.412T>C c.(412-414)Ttc>Ctc p.F138L CSMD3_ENST00000343508.3_Missense_Mutation_p.F98L|CSMD3_ENST00000455883.2_Missense_Mutation_p.F138L|CSMD3_ENST00000352409.3_Missense_Mutation_p.F138L NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 138 CUB 1. 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 GGCAGATGGAATCCTGTTAAC 0.313000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 18 39 0 0 1 0 0 AIM1L 55057 broad.mit.edu 37 1 26664049 26664049 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:26664049G>A ENST00000527815.1 - 8 1051 c.1002C>T c.(1000-1002)tcC>tcT p.S334S AIM1L_ENST00000522993.1_5'UTR|AIM1L_ENST00000308182.5_Silent_p.S163S NM_001039775.3 NP_001034864.2 Q8N1P7 AIM1L_HUMAN absent in melanoma 1-like 163 Beta/gamma crystallin 'Greek key' 7. sugar binding endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2) 12 all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239) GAACTCTCAGGGACCCCACAG 0.607000 25 23 0 0 1 0 0 CALN1 83698 broad.mit.edu 37 7 71743683 71743683 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:71743683C>T ENST00000395275.2 - 3 620 c.232G>A c.(232-234)Gag>Aag p.E78K CALN1_ENST00000329008.5_Missense_Mutation_p.E36K|CALN1_ENST00000412588.1_Missense_Mutation_p.E78K|CALN1_ENST00000431984.1_Missense_Mutation_p.E36K|CALN1_ENST00000405452.2_Missense_Mutation_p.E36K|CALN1_ENST00000395276.2_Missense_Mutation_p.E36K NM_031468.3 NP_113656.2 Q9BXU9 CABP8_HUMAN calneuron 1 36 EF-hand 2. Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane calcium ion binding biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2) 32 all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161) TCGAGCTCCTCCACGGAGATA 0.562000 22 47 0 0 1 0 0 ZNF783 100289678 broad.mit.edu 37 7 148975489 148975489 + Splice_Site SNP G G C TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:148975489G>C ENST00000434415.1 + 5 836 c.e5-1 ZNF783_ENST00000489518.1_Splice_Site NM_001195220.1 NP_001182149.1 C9J9J2 C9J9J2_HUMAN zinc finger family member 783 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1) 22 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.0014) ACATTCTCCAGGCCTCCCTCC 0.602000 11 25 0 0 1 0 0 TSPO2 222642 broad.mit.edu 37 6 41011350 41011350 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr6:41011350G>A ENST00000373161.1 + 3 473 c.228G>A c.(226-228)ctG>ctA p.L76L TSPO2_ENST00000373158.2_Intron|TSPO2_ENST00000470917.1_Silent_p.L76L NM_001010873.2 NP_001010873.1 Q5TGU0 TSPO2_HUMAN translocator protein 2 76 transport endoplasmic reticulum membrane|integral to membrane cholesterol binding|receptor activity breast(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 GGTGGCCCCTGGCCCTGCCTC 0.577000 6 70 0 0 1 0 0 CLEC6A 93978 broad.mit.edu 37 12 8628756 8628756 + Silent SNP T T C TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:8628756T>C ENST00000382073.3 + 5 591 c.405T>C c.(403-405)tcT>tcC p.S135S NM_001007033.1 NP_001007034.1 Q6EIG7 CLC6A_HUMAN C-type lectin domain family 6, member A 135 C-type lectin. defense response to fungus|innate immune response|positive regulation of cytokine secretion|positive regulation of I-kappaB kinase/NF-kappaB cascade integral to membrane sugar binding breast(1)|large_intestine(2)|lung(7) 10 Lung SC(5;0.184) agtcattttcttattttctgg 0.393000 35 46 0 0 1 0 0 ARID2 196528 broad.mit.edu 37 12 46245164 46245164 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:46245164C>T ENST00000334344.6 + 15 3430 c.3258C>T c.(3256-3258)ccC>ccT p.P1086P ARID2_ENST00000422737.1_Silent_p.P937P|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Silent_p.P696P NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 1086 Gln-rich. chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) AGATTCCTCCCCCTAATAATG 0.537000 """N, S, F""" hepatocellular carcinoma 36 68 0 0 1 0 0 SLC36A4 120103 broad.mit.edu 37 11 92901171 92901171 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:92901171G>A ENST00000326402.4 - 7 837 c.707C>T c.(706-708)tCa>tTa p.S236L SLC36A4_ENST00000529184.1_Missense_Mutation_p.S101L NM_152313.2 NP_689526.2 Q6YBV0 S36A4_HUMAN solute carrier family 36 (proton/amino acid symporter), member 4 236 L-alanine transport|proline transport|tryptophan transport integral to membrane symporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 25 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) GGCAAGGAATGAAAGTACAAA 0.328000 23 36 0 0 1 0 0 VCAM1 7412 broad.mit.edu 37 1 101194832 101194832 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:101194832C>T ENST00000294728.2 + 5 1199 c.1098C>T c.(1096-1098)tcC>tcT p.S366S VCAM1_ENST00000370119.4_Silent_p.S304S|VCAM1_ENST00000370115.1_Intron|VCAM1_ENST00000347652.2_Intron NM_001078.3 NP_001069.1 P19320 VCAM1_HUMAN vascular cell adhesion molecule 1 366 Ig-like C2-type 4. heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome cell adhesion molecule binding|integrin binding central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011) Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196) Carvedilol(DB01136) GGACCAATTCCACGCTGACCC 0.517000 50 60 0 0 1 0 0 RIMS2 9699 broad.mit.edu 37 8 104897788 104897788 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:104897788G>A ENST00000507740.1 + 2 621 c.385G>A c.(385-387)Gaa>Aaa p.E129K RIMS2_ENST00000436393.2_Missense_Mutation_p.E99K|RIMS2_ENST00000522174.1_3'UTR|RIMS2_ENST00000406091.3_Missense_Mutation_p.E321K|RIMS2_ENST00000262231.10_Missense_Mutation_p.E129K NM_014677.4 NP_055492.3 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 352 RabBD. 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) AGATGAATACGAAAGGCAAAG 0.433000 HNSCC(12;0.0054) 10 30 0 0 1 0 0 SP100 6672 broad.mit.edu 37 2 231380268 231380268 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:231380268G>A ENST00000264052.5 + 25 2908 c.2553G>A c.(2551-2553)aaG>aaA p.K851K SP100_ENST00000340126.4_Intron NM_003113.3 NP_003104.2 P23497 SP100_HUMAN SP100 nuclear antigen 851 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon cytoplasm|nuclear periphery|nucleolus|PML body chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1) 25 Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) gagttgtcaaggctgaaaaaa 0.363000 5 3 0 0 1 0 0 DNMT3B 1789 broad.mit.edu 37 20 31372588 31372588 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr20:31372588G>A ENST00000328111.2 + 4 550 c.229G>A c.(229-231)Gaa>Aaa p.E77K DNMT3B_ENST00000443239.3_Missense_Mutation_p.E77K|DNMT3B_ENST00000201963.3_Missense_Mutation_p.E89K|DNMT3B_ENST00000348286.2_Missense_Mutation_p.E77K|DNMT3B_ENST00000375623.4_Missense_Mutation_p.E77K|DNMT3B_ENST00000344505.4_Missense_Mutation_p.E77K|DNMT3B_ENST00000353855.2_Missense_Mutation_p.E77K|DNMT3B_ENST00000456297.2_Intron NM_006892.3 NP_008823.1 Q9UBC3 DNM3B_HUMAN DNA (cytosine-5-)-methyltransferase 3 beta 77 Interaction with DNMT1 and DNMT3A. negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation metal ion binding|protein binding|transcription corepressor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TGGCGACGGGGAAGATGGGGA 0.517000 24 40 0 0 1 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37438738 37438738 + Missense_Mutation SNP A A G TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:37438738A>G ENST00000374660.1 + 11 1537 c.1438A>G c.(1438-1440)Aaa>Gaa p.K480E ANKRD30A_ENST00000602533.1_Missense_Mutation_p.K480E|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.K480E Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 536 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 TGTTCCAAATAAAGCCTTTGA 0.299000 32 44 0 0 1 0 0 CCL8 6355 broad.mit.edu 37 17 32647334 32647334 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:32647334G>A ENST00000394620.1 + 2 589 c.123G>A c.(121-123)agG>agA p.R41R NM_005623.2 NP_005614.2 P80075 CCL8_HUMAN chemokine (C-C motif) ligand 8 41 calcium ion transport|cell-cell signaling|chemotaxis|exocytosis|immune response|inflammatory response|response to virus extracellular space chemokine activity|heparin binding|signal transducer activity NS(1)|endometrium(1)|large_intestine(1)|lung(1) 4 Ovarian(249;0.0443)|Breast(31;0.151) TGATCAATAGGAAAATTCCTA 0.448000 18 30 0 0 1 0 0 ACTRT1 139741 broad.mit.edu 37 X 127185186 127185186 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:127185186G>A ENST00000371124.3 - 1 1196 c.1000C>T c.(1000-1002)Cct>Tct p.P334S NM_138289.3 NP_612146.1 Q8TDG2 ACTT1_HUMAN actin-related protein T1 334 cytoplasm|cytoskeleton breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3) 34 CATCTATCAGGAGAAGCTGTG 0.532000 39 59 0 0 1 0 0 CUBN 8029 broad.mit.edu 37 10 16882500 16882500 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:16882500G>A ENST00000377833.4 - 62 9926 c.9861C>T c.(9859-9861)acC>acT p.T3287T NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 3287 CUB 25. 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) TATTTTGTGGGGTCCAAGTTG 0.448000 4 5 0 0 1 0 0 DDX1 1653 broad.mit.edu 37 2 15737538 15737538 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:15737538C>T ENST00000381341.2 + 6 591 c.202C>T c.(202-204)Ctg>Ttg p.L68L DDX1_ENST00000233084.3_Silent_p.L68L Q92499 DDX1_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 1 68 Helicase ATP-binding.|Necessary for interaction with HNRNPK.|Necessary for interaction with RELA. DNA duplex unwinding|double-strand break repair|multicellular organismal development|regulation of transcription, DNA-dependent|regulation of translational initiation|spliceosome assembly|transcription, DNA-dependent cleavage body|stress granule|tRNA-splicing ligase complex ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|DNA/RNA helicase activity|exonuclease activity|poly(A) RNA binding|protein binding|RNA helicase activity|transcription cofactor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 29 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197) all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694) GBM - Glioblastoma multiforme(3;0.00969) Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133) TTATGAAACTCTGAAAGACCA 0.284000 18 23 0 0 1 0 0 POLR3E 55718 broad.mit.edu 37 16 22343422 22343422 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr16:22343422G>A ENST00000299853.5 + 20 2153 c.1986G>A c.(1984-1986)cgG>cgA p.R662R POLR3E_ENST00000359210.4_Intron|POLR3E_ENST00000564209.1_Intron|POLR3E_ENST00000418581.2_Silent_p.R626R NM_001258033.1|NM_001258035.1|NM_018119.3 NP_001244962.1|NP_001244964.1|NP_060589.1 Q9NVU0 RPC5_HUMAN polymerase (RNA) III (DNA directed) polypeptide E (80kD) 662 innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA-directed RNA polymerase activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 GBM - Glioblastoma multiforme(48;0.012) AAAATTACCGGGTACGCCGAA 0.403000 34 47 0 0 1 0 0 SENP1 29843 broad.mit.edu 37 12 48458913 48458913 + Nonsense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:48458913G>A ENST00000004980.5 - 12 1688 c.1210C>T c.(1210-1212)Caa>Taa p.Q404* SENP1_ENST00000339976.6_3'UTR|SENP1_ENST00000549518.1_Nonsense_Mutation_p.Q404*|SENP1_ENST00000549595.1_Nonsense_Mutation_p.Q404*|SENP1_ENST00000551330.1_Nonsense_Mutation_p.Q404*|SENP1_ENST00000448372.1_Nonsense_Mutation_p.Q404* Q9P0U3 SENP1_HUMAN SUMO1/sentrin specific peptidase 1 404 activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis cytoplasm|nucleus endopeptidase activity|SUMO-specific protease activity large_intestine(3)|lung(1)|pancreas(2)|stomach(1) 7 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) TGTGTTTCTTGGACAACAGTA 0.348000 16 24 0 0 1 0 0 GXYLT1 283464 broad.mit.edu 37 12 42481617 42481617 + Missense_Mutation SNP G G A rs75740340 by1000genomes TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:42481617G>A ENST00000398675.3 - 8 1526 c.1294C>T c.(1294-1296)Cgt>Tgt p.R432C GXYLT1_ENST00000280876.6_Missense_Mutation_p.R401C NM_001099650.1|NM_173601.1 NP_001093120.1|NP_775872.1 Q4G148 GXLT1_HUMAN glucoside xylosyltransferase 1 432 O-glycan processing integral to membrane UDP-xylosyltransferase activity kidney(2)|large_intestine(4)|liver(3)|lung(8) 17 CTGGCATAACGATCTCTTACA 0.328000 10 17 0 0 1 0 0 ZNF233 353355 broad.mit.edu 37 19 44777859 44777859 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:44777859G>A ENST00000391958.2 + 5 1173 c.1046G>A c.(1045-1047)cGg>cAg p.R349Q ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000592581.1_3'UTR|ZNF233_ENST00000334152.1_Missense_Mutation_p.R331Q NM_181756.2 NP_861421.2 A6NK53 ZN233_HUMAN zinc finger protein 233 349 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1) 20 Prostate(69;0.0435)|all_neural(266;0.226) GTATATGCCCGGAGCTCCAAC 0.527000 13 32 0 0 1 0 0 MAGEE1 57692 broad.mit.edu 37 X 75650684 75650684 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:75650684G>A ENST00000361470.2 + 1 2639 c.2361G>A c.(2359-2361)ctG>ctA p.L787L NM_020932.2 NP_065983.1 Q9HCI5 MAGE1_HUMAN melanoma antigen family E, 1 787 Interaction with DTNA (By similarity).|MAGE 2. dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1) 51 CTGACCTCCTGAATCGTGCTG 0.473000 65 69 0 0 1 0 0 TPCN2 219931 broad.mit.edu 37 11 68830448 68830448 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:68830448G>A ENST00000294309.3 + 6 744 c.643G>A c.(643-645)Gaa>Aaa p.E215K TPCN2_ENST00000442692.2_3'UTR|TPCN2_ENST00000542467.1_Missense_Mutation_p.E215K NM_139075.3 NP_620714.2 Q8NHX9 TPC2_HUMAN two pore segment channel 2 215 cellular calcium ion homeostasis|smooth muscle contraction endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1) 32 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) GTCGCTGCCGGAAATGGCCAG 0.647000 45 55 0 0 1 0 0 GUCY2F 2986 broad.mit.edu 37 X 108718439 108718439 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:108718439G>A ENST00000218006.2 - 2 1018 c.727C>T c.(727-729)Cgc>Tgc p.R243C NM_001522.2 NP_001513.2 P51841 GUC2F_HUMAN guanylate cyclase 2F, retinal 243 intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1) 67 CACTCACTGCGAATTCTGTCT 0.517000 OREG0019905 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 43 67 0 0 1 0 0 BLM 641 broad.mit.edu 37 15 91308595 91308595 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr15:91308595C>T ENST00000355112.3 + 9 2262 c.2144C>T c.(2143-2145)cCc>cTc p.P715L BLM_ENST00000560136.1_Intron|BLM_ENST00000560509.1_Missense_Mutation_p.P715L NM_000057.2 NP_000048.1 P54132 BLM_HUMAN Bloom syndrome, RecQ helicase-like 715 Helicase ATP-binding. double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray cytoplasm|lateral element|nuclear matrix|nucleolus|PML body ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(78;0.0875)|all_lung(78;0.109) Lung(145;0.189) GTCATTTCTCCCTTGAGATCA 0.378000 """Mis, N, F""" """leukemia, lymphoma, skin squamous cell , other cancers""" Genes defective in diseases associated with sensitivity to DNA damaging agents Bloom syndrome 28 32 0 0 1 0 0 PIGA 5277 broad.mit.edu 37 X 15342945 15342945 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:15342945G>A ENST00000333590.4 - 5 1114 c.1030C>T c.(1030-1032)Ctt>Ttt p.L344F PIGA_ENST00000428964.1_Missense_Mutation_p.L29F|PIGA_ENST00000482148.1_5'UTR|PIGA_ENST00000542278.1_Missense_Mutation_p.L110F NM_002641.3 NP_002632.1 P37287 PIGA_HUMAN phosphatidylinositol glycan anchor biosynthesis, class A 344 C-terminal protein lipidation|positive regulation of metabolic process|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane phosphatidylinositol N-acetylglucosaminyltransferase activity|protein binding endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1) 10 Hepatocellular(33;0.183) AAAATAATAAGGTTTTCTGGA 0.388000 43 56 0 0 1 0 0 ELP4 26610 broad.mit.edu 37 11 31531419 31531419 + Nonsense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:31531419C>T ENST00000395934.2 + 1 95 c.88C>T c.(88-90)Cag>Tag p.Q30* ELP4_ENST00000379163.5_Nonsense_Mutation_p.Q30*|ELP4_ENST00000350638.5_Nonsense_Mutation_p.Q30* Q96EB1 ELP4_HUMAN elongator acetyltransferase complex subunit 4 30 histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex phosphorylase kinase regulator activity|protein binding breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3) 20 Lung SC(675;0.225) CACCAGTTTCCAGAGGAGGGG 0.632000 33 59 0 0 1 0 0 RHPN2 85415 broad.mit.edu 37 19 33535241 33535241 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:33535241C>T ENST00000254260.3 - 2 134 c.99G>A c.(97-99)cgG>cgA p.R33R RHPN2_ENST00000400226.4_5'UTR NM_033103.4 NP_149094.3 Q8IUC4 RHPN2_HUMAN rhophilin, Rho GTPase binding protein 2 33 signal transduction perinuclear region of cytoplasm protein binding NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1) 44 Esophageal squamous(110;0.137) GCAATTTACTCCGGCCGGTTT 0.478000 34 44 0 0 1 0 0 GPR50 9248 broad.mit.edu 37 X 150345222 150345222 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:150345222C>T ENST00000218316.3 + 1 98 c.29C>T c.(28-30)cCc>cTc p.P10L GPR50-AS1_ENST00000454196.1_RNA NM_004224.3 NP_004215.2 Q13585 MTR1L_HUMAN G protein-coupled receptor 50 10 cell-cell signaling integral to plasma membrane melatonin receptor activity breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1) 38 Acute lymphoblastic leukemia(192;6.56e-05) GTTCCCACCCCCTATGGCTGT 0.547000 46 71 0 0 1 0 0 DRD2 1813 broad.mit.edu 37 11 113283503 113283503 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:113283503G>A ENST00000362072.3 - 7 1257 c.913C>T c.(913-915)Ctg>Ttg p.L305L DRD2_ENST00000355319.2_Silent_p.L307L|DRD2_ENST00000542968.1_Silent_p.L305L|DRD2_ENST00000346454.3_Silent_p.L276L|DRD2_ENST00000544518.1_Silent_p.L304L|DRD2_ENST00000538967.1_Silent_p.L307L NM_000795.3 NP_000786.1 P14416 DRD2_HUMAN dopamine receptor D2 305 Interaction with PPP1R9B (By similarity). activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning integral to plasma membrane dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 39 all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494) BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216) Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624) GGGAGAGTCAGCTGGTGGTGG 0.657000 25 44 0 0 1 0 0 GAB4 128954 broad.mit.edu 37 22 17472911 17472911 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr22:17472911G>A ENST00000400588.1 - 2 437 c.330C>T c.(328-330)ttC>ttT p.F110F GAB4_ENST00000523144.1_5'UTR NM_001037814.1 NP_001032903.1 Q2WGN9 GAB4_HUMAN GRB2-associated binding protein family, member 4 110 PH. breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 all_epithelial(15;0.112)|Lung NSC(13;0.248) CCTTCTTGTTGAAGTTCAGAG 0.483000 105 162 0 0 1 0 0 CFB 629 broad.mit.edu 37 6 31917213 31917213 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr6:31917213G>A ENST00000456570.1 + 22 2848 c.2793G>A c.(2791-2793)ggG>ggA p.G931G CFB_ENST00000477310.1_Silent_p.G780G|CFB_ENST00000556679.1_Silent_p.G931G|CFB_ENST00000497841.1_3'UTR|CFB_ENST00000425368.2_Silent_p.G429G P00751 CFAB_HUMAN complement factor B 429 complement activation, alternative pathway|proteolysis extracellular region|plasma membrane complement binding|serine-type endopeptidase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1) 21 ATGTGTTTGGGGTCGGGCCTT 0.478000 23 17 0 0 1 0 0 KIAA0430 9665 broad.mit.edu 37 16 15690647 15690647 + Missense_Mutation SNP A A C TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr16:15690647A>C ENST00000396368.3 - 27 5338 c.5132T>G c.(5131-5133)cTc>cGc p.L1711R KIAA0430_ENST00000551742.1_Missense_Mutation_p.L1711R|KIAA0430_ENST00000602337.1_Missense_Mutation_p.L1708R|KIAA0430_ENST00000540441.2_Missense_Mutation_p.L1546R|KIAA0430_ENST00000548025.1_Missense_Mutation_p.L1708R|KIAA0430_ENST00000344181.3_Missense_Mutation_p.L1399R NM_001184998.1|NM_001184999.1|NM_014647.3 NP_001171927.1|NP_001171928.1|NP_055462.2 Q9Y4F3 LKAP_HUMAN KIAA0430 1710 peroxisome nucleotide binding|RNA binding breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1) 40 GTCCTTGCTGAGCAGTGACTC 0.537000 21 38 0 0 1 0 0 RIMS2 9699 broad.mit.edu 37 8 104955149 104955149 + Missense_Mutation SNP T T G TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:104955149T>G ENST00000507740.1 + 11 2308 c.2072T>G c.(2071-2073)tTg>tGg p.L691W RIMS2_ENST00000436393.2_Missense_Mutation_p.L677W|RIMS2_ENST00000406091.3_Missense_Mutation_p.L899W|RIMS2_ENST00000262231.10_Missense_Mutation_p.L738W NM_014677.4 NP_055492.3 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 961 PDZ. 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) ACACGGAGGTTGCAAAGTAAG 0.373000 HNSCC(12;0.0054) 8 22 0 0 1 0 0 KCNB2 9312 broad.mit.edu 37 8 73849557 73849557 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:73849557G>A ENST00000523207.1 + 3 2555 c.1967G>A c.(1966-1968)aGa>aAa p.R656K NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 656 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) ACTCTATCCAGAGAGAAAGGA 0.577000 27 48 0 0 1 0 0 EDC4 23644 broad.mit.edu 37 16 67911500 67911500 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr16:67911500G>A ENST00000358933.5 + 6 969 c.730G>A c.(730-732)Gag>Aag p.E244K EDC4_ENST00000574770.1_3'UTR NM_014329.4 NP_055144.3 Q6P2E9 EDC4_HUMAN enhancer of mRNA decapping 4 244 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|nucleus protein binding breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) CATCCCTGAGGAGAGCGAAGA 0.597000 23 51 0 0 1 0 0 CNGA3 1261 broad.mit.edu 37 2 99013661 99013661 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:99013661C>T ENST00000393504.1 + 8 2445 c.2028C>T c.(2026-2028)ccC>ccT p.P676P CNGA3_ENST00000409937.1_Silent_p.P680P|CNGA3_ENST00000436404.2_Silent_p.P658P|CNGA3_ENST00000272602.2_Silent_p.P676P NM_001298.2 NP_001289.1 Q16281 CNGA3_HUMAN cyclic nucleotide gated channel alpha 3 676 signal transduction|visual perception integral to membrane cGMP binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3) 49 GGGACAAGCCCCTGGCTGATG 0.557000 17 29 0 0 1 0 0 MTMR8 55613 broad.mit.edu 37 X 63565035 63565035 + Missense_Mutation SNP G G T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:63565035G>T ENST00000374852.3 - 7 822 c.755C>A c.(754-756)gCa>gAa p.A252E MTMR8_ENST00000478487.1_5'UTR|MTMR8_ENST00000453546.1_Missense_Mutation_p.A252E NM_017677.3 NP_060147.2 Q96EF0 MTMR8_HUMAN myotubularin related protein 8 252 Myotubularin phosphatase.|Substrate binding (By similarity). nuclear envelope protein tyrosine phosphatase activity p.0?(1) breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3) 37 CTTCCCAGCTGCTCGGTTGGC 0.448000 42 61 1.15183e-24 1.17684e-24 1 1 0 ZNF208 7757 broad.mit.edu 37 19 22154137 22154137 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:22154137G>A ENST00000397126.4 - 4 3847 c.3699C>T c.(3697-3699)gcC>gcT p.A1233A ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) ACGTACTAAAGGCTTTGCCAC 0.403000 15 31 0 0 1 0 0 MXRA7 439921 broad.mit.edu 37 17 74679982 74679982 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:74679982G>A ENST00000375036.2 - 4 585 c.528C>T c.(526-528)tcC>tcT p.S176S MXRA7_ENST00000588114.1_Intron|MXRA7_ENST00000449428.2_Intron|MXRA7_ENST00000589082.1_Silent_p.S21S|MXRA7_ENST00000355797.3_Intron|MXRA7_ENST00000585519.1_Intron|MXRA7_ENST00000592148.1_Intron NM_001008529.1 NP_001008529.1 P84157 MXRA7_HUMAN matrix-remodelling associated 7 0 integral to membrane kidney(1)|large_intestine(2)|lung(2)|skin(1) 6 CTTGCTACAGGGAAGTGAGGT 0.498000 18 61 0 0 1 0 0 PCDHA8 56140 broad.mit.edu 37 5 140223235 140223235 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:140223235C>T ENST00000531613.1 + 1 2329 c.2329C>T c.(2329-2331)Cct>Tct p.P777S PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.P777S|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron NM_018911.2 NP_061734.1 NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCCCTGCCTTCCTCCTGATCT 0.502000 19 32 0 0 1 0 0 SNAPC5 10302 broad.mit.edu 37 15 66787717 66787717 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr15:66787717C>T ENST00000316634.5 - 2 212 c.131G>A c.(130-132)aGa>aAa p.R44K SNAPC5_ENST00000566658.1_Intron|SNAPC5_ENST00000307979.7_Intron|SNAPC5_ENST00000563480.2_Missense_Mutation_p.R44K|SNAPC5_ENST00000395589.2_Missense_Mutation_p.R44K O75971 SNPC5_HUMAN small nuclear RNA activating complex, polypeptide 5, 19kDa 44 transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase III promoter nucleoplasm sequence-specific DNA binding transcription factor activity breast(1)|large_intestine(1) 2 CTCATCCCCTCTTCTAGAACT 0.433000 36 54 0 0 1 0 0 ROBO3 64221 broad.mit.edu 37 11 124742917 124742917 + Missense_Mutation SNP T T G TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:124742917T>G ENST00000397801.1 + 9 1660 c.1468T>G c.(1468-1470)Tgg>Ggg p.W490G ROBO3_ENST00000538940.1_Missense_Mutation_p.W468G NM_022370.3 NP_071765.2 Q96MS0 ROBO3_HUMAN roundabout, axon guidance receptor, homolog 3 (Drosophila) 490 Ig-like C2-type 5. axon midline choice point recognition integral to membrane receptor activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 35 all_hematologic(175;0.215) Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296) GGATGGGCAGTGGCTGCAGGG 0.597000 25 48 0 0 1 0 0 PPP2R3A 5523 broad.mit.edu 37 3 135720858 135720858 + Missense_Mutation SNP C C A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:135720858C>A ENST00000264977.3 + 2 1135 c.518C>A c.(517-519)tCc>tAc p.S173Y PPP2R3A_ENST00000490467.1_Intron NM_001190447.1|NM_002718.4 NP_001177376.1|NP_002709.2 Q06190 P2R3A_HUMAN protein phosphatase 2, regulatory subunit B'', alpha 173 protein dephosphorylation protein phosphatase type 2A complex calcium ion binding|protein binding|protein phosphatase type 2A regulator activity breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 AACGCCCCATCCTTTGGTTTA 0.413000 26 41 6.32553e-13 6.41384e-13 1 1 0 SPANXN3 139067 broad.mit.edu 37 X 142605181 142605181 + Silent SNP C C T rs148202641 TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:142605181C>T ENST00000370503.2 - 1 122 c.39G>A c.(37-39)acG>acA p.T13T NM_001009609.2 NP_001009609.1 Q5MJ09 SPXN3_HUMAN SPANX family, member N3 13 endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1) 14 Acute lymphoblastic leukemia(192;6.56e-05) AGGGGCTCTTCGTCTTCTCCC 0.458000 94 114 0 0 1 0 0 APBA2 321 broad.mit.edu 37 15 29393814 29393814 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr15:29393814G>A ENST00000558402.1 + 11 1950 c.1351G>A c.(1351-1353)Gac>Aac p.D451N APBA2_ENST00000411764.1_Missense_Mutation_p.D439N|APBA2_ENST00000558330.1_Missense_Mutation_p.D439N|APBA2_ENST00000561069.1_Missense_Mutation_p.D451N|APBA2_ENST00000558259.1_Missense_Mutation_p.D451N Q99767 APBA2_HUMAN amyloid beta (A4) precursor protein-binding, family A, member 2 451 PID. nervous system development|protein transport protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1) 59 all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234) all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24) AACCATGATGGACCACGCCTT 0.572000 15 9 0 0 1 0 0 TMPRSS9 360200 broad.mit.edu 37 19 2405440 2405440 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:2405440G>A ENST00000332578.3 + 6 637 c.637G>A c.(637-639)Gag>Aag p.E213K NM_182973.1 NP_892018.1 Q7Z410 TMPS9_HUMAN transmembrane protease, serine 9 213 Peptidase S1 1. proteolysis integral to plasma membrane serine-type endopeptidase activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ATCCCCGGGGGAGTTTCCGTG 0.627000 37 22 0 0 1 0 0 COL9A1 1297 broad.mit.edu 37 6 71009790 71009790 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr6:71009790C>T ENST00000357250.6 - 4 413 c.255G>A c.(253-255)gtG>gtA p.V85V COL9A1_ENST00000370496.3_Silent_p.V85V NM_001851.4 NP_001842.3 P20849 CO9A1_HUMAN collagen, type IX, alpha 1 85 Nonhelical region (NC4).|TSP N-terminal. axon guidance|cell adhesion|organ morphogenesis collagen type IX metal ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4) 80 ACTTGTAAGCCACCTGCAATG 0.373000 7 36 0 0 1 0 0 PTPN23 25930 broad.mit.edu 37 3 47450663 47450663 + Silent SNP C C T rs141629698 TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:47450663C>T ENST00000265562.4 + 17 1730 c.1653C>T c.(1651-1653)gcC>gcT p.A551A PTPN23_ENST00000431726.1_Silent_p.A425A NM_015466.2 NP_056281.1 Q9H3S7 PTN23_HUMAN protein tyrosine phosphatase, non-receptor type 23 551 cilium morphogenesis cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body protein tyrosine phosphatase activity breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 23 BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) AGGACAAGGCCGTGCTGCAAA 0.622000 19 41 0 0 1 0 0 PCDHGC4 56098 broad.mit.edu 37 5 140866638 140866638 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:140866638C>T ENST00000306593.1 + 1 1898 c.1898C>T c.(1897-1899)cCt>cTt p.P633L PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018928.2|NM_032406.1 NP_061751.1|NP_115782.1 NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 42 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACGGCTGTTCCTATCCCAGCT 0.532000 11 20 0 0 1 0 0 METTL4 64863 broad.mit.edu 37 18 2547411 2547411 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr18:2547411C>T ENST00000319888.6 - 6 1815 c.1017G>A c.(1015-1017)aaG>aaA p.K339K METTL4_ENST00000574538.1_Silent_p.K339K Q8N3J2 METL4_HUMAN methyltransferase like 4 339 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process methyltransferase activity|nucleic acid binding breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|urinary_tract(1) 17 AAAGTTCTTCCTTTATAAAAC 0.408000 29 43 0 0 1 0 0 PPP1R13L 10848 broad.mit.edu 37 19 45900259 45900259 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:45900259G>A ENST00000418234.2 - 4 334 c.256C>T c.(256-258)Cgg>Tgg p.R86W PPP1R13L_ENST00000360957.5_Missense_Mutation_p.R86W NM_001142502.1 NP_001135974.1 Q8WUF5 IASPP_HUMAN protein phosphatase 1, regulatory subunit 13 like 86 Pro-rich. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus transcription corepressor activity|transcription factor binding breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0182) GCCGCCTTCCGGGGGGACCCT 0.687000 6 13 0 0 1 0 0 MYBPC1 4604 broad.mit.edu 37 12 102025393 102025393 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:102025393C>T ENST00000549145.1 + 6 398 c.298C>T c.(298-300)Ctg>Ttg p.L100L MYBPC1_ENST00000547405.1_Silent_p.L61L|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000545503.2_Silent_p.L87L|MYBPC1_ENST00000541119.1_Silent_p.L75L|MYBPC1_ENST00000553190.1_Silent_p.L87L|MYBPC1_ENST00000441232.1_Silent_p.L87L|MYBPC1_ENST00000392934.3_Silent_p.L74L|MYBPC1_ENST00000551300.1_5'UTR|MYBPC1_ENST00000361685.2_Silent_p.L112L|MYBPC1_ENST00000360610.2_Silent_p.L87L|MYBPC1_ENST00000550270.1_Silent_p.L87L|MYBPC1_ENST00000547509.1_Silent_p.L73L|MYBPC1_ENST00000361466.2_Silent_p.L112L|MYBPC1_ENST00000536007.1_Silent_p.L87L|MYBPC1_ENST00000452455.2_Silent_p.L87L Q00872 MYPC1_HUMAN myosin binding protein C, slow type 87 Ig-like C2-type 1. cell adhesion|muscle filament sliding cytosol|myofibril|myosin filament actin binding|structural constituent of muscle|titin binding breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2) 57 TGAAGATCTTCTGAGAAAACC 0.448000 74 17 0 0 1 0 0 MYH8 4626 broad.mit.edu 37 17 10304745 10304745 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:10304745C>T ENST00000403437.2 - 24 3049 c.2955G>A c.(2953-2955)atG>atA p.M985I CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_002472.2 NP_002463.2 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, perinatal 985 muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 CCAGGCCTGCCATCTCTTCTG 0.443000 Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling 55 84 0 0 1 0 0 C20orf26 26074 broad.mit.edu 37 20 20226796 20226796 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr20:20226796C>T ENST00000245957.5 + 19 2172 c.2096C>T c.(2095-2097)tCa>tTa p.S699L C20orf26_ENST00000389656.3_Missense_Mutation_p.S55L|C20orf26_ENST00000377293.1_Missense_Mutation_p.S55L|C20orf26_ENST00000377309.2_Missense_Mutation_p.S55L NM_015585.3 NP_056400.3 Q8NHU2 CT026_HUMAN chromosome 20 open reading frame 26 699 NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 77 READ - Rectum adenocarcinoma(2;0.171) ACCCTGATTTCAACTCATGGA 0.328000 25 36 0 0 1 0 0 KSR2 283455 broad.mit.edu 37 12 118199103 118199103 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:118199103C>T ENST00000425217.1 - 4 666 c.612G>A c.(610-612)ccG>ccA p.P204P KSR2_ENST00000339824.5_Silent_p.P233P NM_173598.4 NP_775869.3 Q6VAB6 KSR2_HUMAN kinase suppressor of ras 2 233 Pro-rich. intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GGCACAAGCCCGGGTAGGCGT 0.726000 5 10 0 0 1 0 0 LOC146880 146880 broad.mit.edu 37 17 62754416 62754416 + RNA SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:62754416C>T ENST00000400873.3 - 0 1784 NR_026899.1 AATGAGCTTACATTTCTCCTC 0.398000 14 22 0 0 1 0 0 H1FNT 341567 broad.mit.edu 37 12 48723521 48723521 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:48723521C>T ENST00000335017.1 + 1 759 c.447C>T c.(445-447)gcC>gcT p.A149A NM_181788.1 NP_861453.1 Q75WM6 H1FNT_HUMAN H1 histone family, member N, testis-specific 149 Arg-rich. chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation nuclear chromatin ATP binding|DNA binding endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1) 13 GGACCCCAGCCGCGCCCCGGA 0.711000 5 6 0 0 1 0 0 VCAN 1462 broad.mit.edu 37 5 82836302 82836302 + Missense_Mutation SNP G G A rs147255921 byFrequency TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:82836302G>A ENST00000265077.3 + 8 8045 c.7480G>A c.(7480-7482)Gag>Aag p.E2494K VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.E1507K|VCAN_ENST00000512590.2_Intron|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000513016.1_3'UTR NM_004385.4 NP_004376.2 P13611 CSPG2_HUMAN versican 2494 GAG-beta. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 190 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) TCTTCATTCAGAGCAGAACAA 0.473000 26 38 0 0 1 0 0 CNGB3 54714 broad.mit.edu 37 8 87588325 87588325 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:87588325C>T ENST00000320005.5 - 18 2184 c.2137G>A c.(2137-2139)Gga>Aga p.G713R NM_019098.4 NP_061971.3 Q9NQW8 CNGB3_HUMAN cyclic nucleotide gated channel beta 3 713 signal transduction|visual perception integral to membrane cGMP binding NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 80 ttttcttttccttcttcctct 0.294000 9 25 0 0 1 0 0 NSUN2 54888 broad.mit.edu 37 5 6606978 6606978 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:6606978G>A ENST00000264670.6 - 14 1867 c.1556C>T c.(1555-1557)cCa>cTa p.P519L NSUN2_ENST00000506139.1_Missense_Mutation_p.P484L|NSUN2_ENST00000539938.1_Missense_Mutation_p.P283L NM_017755.5 NP_060225.4 Q08J23 NSUN2_HUMAN NOP2/Sun RNA methyltransferase family, member 2 519 cytoplasm|nucleolus tRNA (cytosine-5-)-methyltransferase activity|tRNA binding breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 41 AAATACAAATGGATCTTCTTT 0.313000 31 41 0 0 1 0 0 HMBOX1 79618 broad.mit.edu 37 8 28876342 28876342 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:28876342C>T ENST00000397358.3 + 7 1467 c.763C>T c.(763-765)Ccc>Tcc p.P255S HMBOX1_ENST00000444075.1_Missense_Mutation_p.P255S|HMBOX1_ENST00000355231.5_Missense_Mutation_p.P255S|HMBOX1_ENST00000287701.10_Missense_Mutation_p.P255S|HMBOX1_ENST00000558662.1_Missense_Mutation_p.P255S|HMBOX1_ENST00000524238.1_Missense_Mutation_p.P255S|HMBOX1_ENST00000403668.2_Missense_Mutation_p.P255S|HMBOX1_ENST00000519047.1_Missense_Mutation_p.P255S|HMBOX1_ENST00000523613.1_Missense_Mutation_p.P255S NM_024567.3 NP_078843.2 Q6NT76 HMBX1_HUMAN homeobox containing 1 255 negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1) 11 Ovarian(32;0.0192) KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161) ACAAACGCCTCCCCCAGTCTC 0.493000 37 48 0 0 1 0 0 MAP7D3 79649 broad.mit.edu 37 X 135323338 135323338 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:135323338C>T ENST00000316077.9 - 5 736 c.516G>A c.(514-516)gcG>gcA p.A172A MAP7D3_ENST00000370661.1_Silent_p.A172A|MAP7D3_ENST00000370663.5_Silent_p.A154A NM_024597.3 NP_078873.2 Q8IWC1 MA7D3_HUMAN MAP7 domain containing 3 172 cytoplasm|spindle central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1) 44 Acute lymphoblastic leukemia(192;0.000127) TCTCAGAATTCGCCATTGCAG 0.358000 45 37 0 0 1 0 0 FAM13B 51306 broad.mit.edu 37 5 137354760 137354760 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:137354760G>A ENST00000033079.3 - 3 492 c.41C>T c.(40-42)tCc>tTc p.S14F FAM13B_ENST00000420893.2_Missense_Mutation_p.S14F|FAM13B_ENST00000425075.2_Intron NM_016603.2 NP_057687.2 Q9NYF5 FA13B_HUMAN family with sequence similarity 13, member B 14 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity endometrium(4)|kidney(2)|lung(5) 11 AGCAAGAACGGAGTTGCAGTT 0.433000 34 57 0 0 1 0 0 YY1AP1 55249 broad.mit.edu 37 1 155630378 155630378 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:155630378G>A ENST00000368340.5 - 10 1785 c.1677C>T c.(1675-1677)gcC>gcT p.A559A YY1AP1_ENST00000407221.1_Silent_p.A410A|YY1AP1_ENST00000359205.5_Silent_p.A430A|YY1AP1_ENST00000311573.5_Silent_p.A410A|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000347088.5_Silent_p.A441A|YY1AP1_ENST00000368330.2_Silent_p.A441A|YY1AP1_ENST00000361831.5_Silent_p.A430A|YY1AP1_ENST00000295566.4_Silent_p.A487A|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000355499.4_Silent_p.A441A|YY1AP1_ENST00000404643.1_Silent_p.A421A|YY1AP1_ENST00000535662.1_Silent_p.A287A|YY1AP1_ENST00000368339.5_Silent_p.A579A NM_001198904.1 NP_001185833.1 YY1 associated protein 1 central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2) 31 Hepatocellular(266;0.0997)|all_hematologic(923;0.145) TGCTCGGAGGGGCTTCTGAAT 0.557000 27 66 0 0 1 0 0 RNF43 54894 broad.mit.edu 37 17 56448300 56448300 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:56448300G>A ENST00000584437.1 - 2 2302 c.347C>T c.(346-348)cCc>cTc p.P116L RNF43_ENST00000577716.1_Missense_Mutation_p.P116L|RNF43_ENST00000583753.1_Intron|RNF43_ENST00000500597.2_Intron|RNF43_ENST00000581868.1_5'UTR|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000407977.2_Missense_Mutation_p.P116L|RNF43_ENST00000577625.1_5'UTR Q68DV7 RNF43_HUMAN ring finger protein 43 116 endoplasmic reticulum membrane|integral to membrane|nuclear envelope ligase activity|protein binding|zinc ion binding NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4) 60 Medulloblastoma(34;0.127)|all_neural(34;0.237) GCAGGGGCGGGGGGCCCGTCG 0.607000 24 45 0 0 1 0 0 ZNF521 25925 broad.mit.edu 37 18 22806824 22806824 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr18:22806824G>A ENST00000361524.3 - 4 1206 c.1058C>T c.(1057-1059)tCc>tTc p.S353F ZNF521_ENST00000584787.1_Missense_Mutation_p.S133F|ZNF521_ENST00000538137.2_Missense_Mutation_p.S353F NM_015461.2 NP_056276.1 Q96K83 ZN521_HUMAN zinc finger protein 521 353 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 149 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) ACTGGACACGGAGGTATAGCC 0.572000 T PAX5 ALL 23 41 0 0 1 0 0 FLNA 2316 broad.mit.edu 37 X 153590892 153590892 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:153590892G>A ENST00000422373.1 - 17 2707 c.2459C>T c.(2458-2460)gCt>gTt p.A820V FLNA_ENST00000369850.3_Missense_Mutation_p.A820V|FLNA_ENST00000360319.4_Missense_Mutation_p.A820V|FLNA_ENST00000344736.4_Missense_Mutation_p.A820V NM_001456.3 NP_001447.2 P21333 FLNA_HUMAN filamin A, alpha 820 actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) GTCGATGTCAGCTTCGGCGGG 0.622000 71 111 0 0 1 0 0 TCN1 6947 broad.mit.edu 37 11 59631446 59631446 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:59631446C>T ENST00000257264.3 - 2 297 c.193G>A c.(193-195)Gga>Aga p.G65R TCN1_ENST00000532419.1_5'UTR NM_001062.3 NP_001053.2 P20061 TCO1_HUMAN transcobalamin I (vitamin B12 binding protein, R binder family) 65 cobalamin metabolic process|cobalamin transport|cobalt ion transport extracellular region cobalamin binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 all_epithelial(135;0.198) Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) ATCTGGATTCCAACAAGTTTG 0.383000 48 90 0 0 1 0 0 ABCC4 10257 broad.mit.edu 37 13 95813449 95813449 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr13:95813449G>A ENST00000376887.4 - 19 2563 c.2449C>T c.(2449-2451)Cca>Tca p.P817S ABCC4_ENST00000536256.1_Missense_Mutation_p.P742S|ABCC4_ENST00000412704.1_Missense_Mutation_p.P770S|ABCC4_ENST00000431522.1_Missense_Mutation_p.P817S NM_005845.3 NP_005836.2 O15439 MRP4_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 4 817 ABC transmembrane type-1 2. platelet activation|platelet degranulation integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane 15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 all_neural(89;0.0878)|Medulloblastoma(90;0.163) Cefazolin(DB01327) TTACCTATTGGATTTCTATCA 0.348000 9 19 0 0 1 0 0 SEC23IP 11196 broad.mit.edu 37 10 121671613 121671613 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:121671613G>A ENST00000369075.3 + 6 1321 c.1249G>A c.(1249-1251)Gga>Aga p.G417R SEC23IP_ENST00000543134.1_Missense_Mutation_p.G206R NM_007190.3 NP_009121.1 Q9Y6Y8 S23IP_HUMAN SEC23 interacting protein 417 Golgi organization|intracellular protein transport endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment metal ion binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1) 36 Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234) all cancers(201;0.00515) CACGCAAGATGGACAGACAAG 0.433000 53 74 0 0 1 0 0 ANKRD30A 91074 broad.mit.edu 37 10 37508061 37508061 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:37508061G>A ENST00000374660.1 + 40 3709 c.3610G>A c.(3610-3612)Gaa>Aaa p.E1204K ANKRD30A_ENST00000602533.1_Missense_Mutation_p.E1085K|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E1085K Q9BXX3 AN30A_HUMAN ankyrin repeat domain 30A 1170 nucleus DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3) 158 GATTTTAAAAGAAAAGAATGC 0.348000 38 85 0 0 1 0 0 NCOR2 9612 broad.mit.edu 37 12 124824864 124824864 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:124824864C>T ENST00000356219.3 - 37 5640 c.5485G>A c.(5485-5487)Gag>Aag p.E1829K NCOR2_ENST00000404621.1_Missense_Mutation_p.E1812K|NCOR2_ENST00000429285.2_Missense_Mutation_p.E1812K|NCOR2_ENST00000405201.1_Missense_Mutation_p.E1822K|NCOR2_ENST00000404121.2_Missense_Mutation_p.E1383K|NCOR2_ENST00000397355.1_Missense_Mutation_p.E1813K NM_006312.5 NP_006303.4 Q9Y618 NCOR2_HUMAN nuclear receptor corepressor 2 1830 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) GGTGCGTGCTCCACCGTCGTG 0.682000 18 30 0 0 1 0 0 TTYH3 80727 broad.mit.edu 37 7 2686532 2686532 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:2686532G>A ENST00000258796.7 + 2 374 c.169G>A c.(169-171)Gac>Aac p.D57N TTYH3_ENST00000407643.1_Missense_Mutation_p.D57N NM_025250.2 NP_079526.1 Q9C0H2 TTYH3_HUMAN tweety family member 3 57 chloride channel complex|plasma membrane chloride channel activity kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2) 17 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;2.04e-14) CCTCGCCCTGGACCTCCTCTT 0.706000 12 12 0 0 1 0 0 PASD1 139135 broad.mit.edu 37 X 150773139 150773139 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:150773139C>T ENST00000370357.4 + 3 295 c.50C>T c.(49-51)tCt>tTt p.S17F NM_173493.2 NP_775764.2 Q8IV76 PASD1_HUMAN PAS domain containing 1 17 nucleus signal transducer activity breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 Acute lymphoblastic leukemia(192;6.56e-05) CCAAAAAGCTCTCAAAGGAAA 0.328000 14 8 0 0 1 0 0 SBF1 6305 broad.mit.edu 37 22 50885811 50885811 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr22:50885811C>T ENST00000380817.2 - 40 5706 c.5523G>A c.(5521-5523)gtG>gtA p.V1841V SBF1_ENST00000348911.6_Silent_p.V1816V|SBF1_ENST00000390679.3_Silent_p.V1815V NM_002972.2 NP_002963.2 O95248 MTMR5_HUMAN SET binding factor 1 1815 PH. protein dephosphorylation integral to membrane|nucleus protein tyrosine/serine/threonine phosphatase activity breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 43 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247) TGCCAGGTGCCACAGCCTCCA 0.642000 29 69 0 0 1 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77387770 77387770 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr16:77387770C>T ENST00000282849.5 - 10 1892 c.1474G>A c.(1474-1476)Ggg>Agg p.G492R NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 492 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 ACTAGACACCCCGCCTGAGGT 0.418000 52 85 0 0 1 0 0 GYS1 2997 broad.mit.edu 37 19 49485572 49485572 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:49485572G>A ENST00000540532.1 - 5 898 c.644C>T c.(643-645)tCt>tTt p.S215F GYS1_ENST00000541188.1_Silent_p.F254F|GYS1_ENST00000263276.6_Silent_p.F270F|GYS1_ENST00000544287.1_5'UTR|GYS1_ENST00000323798.3_Silent_p.F334F P13807 GYS1_HUMAN glycogen synthase 1 (muscle) 0 glucose metabolic process|glycogen biosynthetic process cytosol glycogen (starch) synthase activity|protein binding breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286) CCTTGTTGGAGAACTCATAGC 0.537000 41 58 0 0 1 0 0 OR4K1 79544 broad.mit.edu 37 14 20404411 20404411 + Missense_Mutation SNP G G A rs149331048 TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr14:20404411G>A ENST00000285600.4 + 1 645 c.586G>A c.(586-588)Gaa>Aaa p.E196K NM_001004063.2 NP_001004063.2 Q8NGD4 OR4K1_HUMAN olfactory receptor, family 4, subfamily K, member 1 196 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.E196K(1) central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00124) ATATGAAATGGAAATTATGAC 0.448000 37 52 0 0 1 0 0 ABCA3 21 broad.mit.edu 37 16 2369821 2369821 + Silent SNP G G A rs139695699 byFrequency TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr16:2369821G>A ENST00000301732.5 - 8 1334 c.634C>T c.(634-636)Ctg>Ttg p.L212L ABCA3_ENST00000382381.3_Silent_p.L212L NM_001089.2 NP_001080.2 Q99758 ABCA3_HUMAN ATP-binding cassette, sub-family A (ABC1), member 3 212 response to drug integral to membrane|lamellar body|membrane fraction|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1) 70 Ovarian(90;0.17) TGCACGGCCAGGAAGCCTTCC 0.642000 21 36 0 0 1 0 0 PHLDB2 90102 broad.mit.edu 37 3 111603463 111603463 + Nonsense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:111603463G>A ENST00000431670.2 + 2 950 c.539G>A c.(538-540)tGg>tAg p.W180* PHLDB2_ENST00000393925.3_Nonsense_Mutation_p.W180*|PHLDB2_ENST00000478922.1_Nonsense_Mutation_p.W180*|PHLDB2_ENST00000412622.1_Nonsense_Mutation_p.W180*|PHLDB2_ENST00000481953.1_Nonsense_Mutation_p.W180*|PHLDB2_ENST00000393923.3_Nonsense_Mutation_p.W207*|PHLDB2_ENST00000477695.1_Nonsense_Mutation_p.W180* NM_001134438.1 NP_001127910.1 Q86SQ0 PHLB2_HUMAN pleckstrin homology-like domain, family B, member 2 180 cytoplasm|intermediate filament cytoskeleton|plasma membrane breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1) 55 CTGGCCATGTGGAATGGAAGT 0.532000 29 42 0 0 1 0 0 HCAR2 338442 broad.mit.edu 37 12 123186935 123186935 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:123186935G>A ENST00000328880.5 - 1 955 c.896C>T c.(895-897)cCa>cTa p.P299L RP11-324E6.6_ENST00000543611.1_lincRNA|HCAR1_ENST00000356987.2_Intron NM_177551.3 NP_808219.1 Q8TDS4 HCAR2_HUMAN hydroxycarboxylic acid receptor 2 299 negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis integral to membrane|plasma membrane nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 15 Mepenzolate(DB04843)|Niacin(DB00627) GGGAAAGGATGGGCTGGAGAA 0.532000 5 66 0 0 1 0 0 TONSL 4796 broad.mit.edu 37 8 145661200 145661200 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:145661200G>A ENST00000409379.3 - 17 2645 c.2616C>T c.(2614-2616)ccC>ccT p.P872P AC084125.4_ENST00000544423.1_RNA NM_013432.4 NP_038460.4 Q96HA7 TONSL_HUMAN tonsoku-like, DNA repair protein 872 cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing cytoplasm|nuclear replication fork histone binding|transcription corepressor activity biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1) 26 CTCGGGCACGGGGCCTGCTCT 0.692000 47 84 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132514262 132514262 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:132514262C>T ENST00000333577.4 + 29 5615 c.5506C>T c.(5506-5508)Cct>Tct p.P1836S EP400_ENST00000389561.2_Missense_Mutation_p.P1800S|EP400_ENST00000330386.6_Missense_Mutation_p.P1719S|EP400_ENST00000389562.2_Missense_Mutation_p.P1799S|EP400_ENST00000332482.4_Missense_Mutation_p.P1763S Q96L91 EP400_HUMAN E1A binding protein p400 1836 histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) CTTTGTGATTCCTCCGGTGGT 0.627000 26 82 0 0 1 0 0 CCR9 10803 broad.mit.edu 37 3 45942754 45942754 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:45942754G>A ENST00000357632.2 + 3 654 c.474G>A c.(472-474)agG>agA p.R158R LZTFL1_ENST00000539217.1_Intron|LZTFL1_ENST00000536047.1_Intron|CCR9_ENST00000422395.1_3'UTR|CCR9_ENST00000395963.2_Silent_p.R146R|CCR9_ENST00000355983.2_Silent_p.R146R NM_001256369.1|NM_031200.2 NP_001243298.1|NP_112477.1 P51686 CCR9_HUMAN chemokine (C-C motif) receptor 9 158 cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|immune response integral to plasma membrane breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1) 20 BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214) ATACTTGGAGGGAGAAAAGGC 0.468000 25 31 0 0 1 0 0 KLHL13 90293 broad.mit.edu 37 X 117106771 117106771 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:117106771C>T ENST00000262820.3 - 1 930 c.21G>A c.(19-21)acG>acA p.T7T KLHL13_ENST00000469946.1_Intron|KLHL13_ENST00000541812.1_Intron|KLHL13_ENST00000371878.1_Intron|KLHL13_ENST00000371882.1_Intron|KLHL13_ENST00000540167.1_Intron|KLHL13_ENST00000539496.1_Intron|KLHL13_ENST00000545703.1_Intron NM_033495.3 NP_277030.2 Q9P2N7 KLH13_HUMAN kelch-like family member 13 7 cytokinesis|mitosis|protein ubiquitination Cul3-RING ubiquitin ligase complex NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 34 CAGGAGAGCTCGTTTTCCATT 0.413000 33 43 0 0 1 0 0 SYCP2L 221711 broad.mit.edu 37 6 10928652 10928652 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr6:10928652C>T ENST00000283141.6 + 18 1753 c.1457C>T c.(1456-1458)cCg>cTg p.P486L RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron NM_001040274.2 NP_001035364.2 Q5T4T6 SYC2L_HUMAN synaptonemal complex protein 2-like 486 nucleus breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 36 Breast(50;0.0838)|Ovarian(93;0.107) all_hematologic(90;0.135) Epithelial(50;0.239) ccggtccctccgttcggggtc 0.473000 22 8 0 0 1 0 0 MAGED1 9500 broad.mit.edu 37 X 51638490 51638490 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:51638490C>T ENST00000375695.2 + 4 708 c.555C>T c.(553-555)tcC>tcT p.S185S MAGED1_ENST00000326587.7_Silent_p.S129S|MAGED1_ENST00000375722.1_Silent_p.S129S|MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000375772.3_Silent_p.S129S NM_001005333.1 NP_001005333.1 Q9Y5V3 MAGD1_HUMAN melanoma antigen family D, 1 129 apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent cytoplasm|plasma membrane|protein complex protein binding breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1) 32 Ovarian(276;0.236) ATGATTTTTCCCAGGCAGCAA 0.507000 Multiple Myeloma(10;0.10) 9 11 0 0 1 0 0 RBM15 64783 broad.mit.edu 37 1 110883456 110883456 + Nonsense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:110883456C>T ENST00000369784.3 + 1 2329 c.1429C>T c.(1429-1431)Cga>Tga p.R477* RBM15_ENST00000602849.1_Nonsense_Mutation_p.R477*|RBM15_ENST00000487146.2_Nonsense_Mutation_p.R477* NM_022768.4 NP_073605.4 Q96T37 RBM15_HUMAN RNA binding motif protein 15 477 RRM 3. interspecies interaction between organisms nucleus nucleotide binding|protein binding|RNA binding ovary(3) 3 all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634) BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135) AGAATTTGATCGATTTGGCAC 0.517000 T MKL1 acute megakaryocytic leukemia 45 43 0 0 1 0 0 TRPM2 7226 broad.mit.edu 37 21 45819234 45819234 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr21:45819234C>T ENST00000397928.1 + 14 2563 c.2118C>T c.(2116-2118)acC>acT p.T706T TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000397932.2_Silent_p.T706T|TRPM2_ENST00000300481.9_Silent_p.T686T|TRPM2_ENST00000300482.5_Silent_p.T706T NM_003307.3 NP_003298.1 O94759 TRPM2_HUMAN transient receptor potential cation channel, subfamily M, member 2 706 integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 76 AACTGCTCACCCGCGTGTCCG 0.627000 34 18 0 0 1 0 0 PMS1 5378 broad.mit.edu 37 2 190719164 190719164 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:190719164C>T ENST00000441310.2 + 9 1399 c.1166C>T c.(1165-1167)cCa>cTa p.P389L PMS1_ENST00000421722.1_3'UTR|PMS1_ENST00000432292.3_Missense_Mutation_p.P213L|PMS1_ENST00000409823.3_Missense_Mutation_p.P350L|PMS1_ENST00000418224.3_Missense_Mutation_p.P213L|PMS1_ENST00000447232.2_Missense_Mutation_p.P389L NM_000534.4 NP_000525.1 P54277 PMS1_HUMAN PMS1 postmeiotic segregation increased 1 (S. cerevisiae) 389 mismatch repair|reciprocal meiotic recombination MutLalpha complex ATP binding|ATPase activity|mismatched DNA binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751) TCAGTCATTCCATTCCAAAAT 0.323000 """Mis, N""" """colorectal, endometrial, ovarian""" Direct reversal of damage;Mismatch excision repair (MMR) 35 45 0 0 1 0 0 FPR1 2357 broad.mit.edu 37 19 52250210 52250210 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:52250210C>T ENST00000595042.1 - 3 179 c.38G>A c.(37-39)gGa>gAa p.G13E FPR1_ENST00000304748.4_Missense_Mutation_p.G13E NM_001193306.1 NP_001180235.1 P21462 FPR1_HUMAN formyl peptide receptor 1 13 activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction endosome|integral to membrane|plasma membrane N-formyl peptide receptor activity endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3) 20 all_neural(266;0.0189)|Medulloblastoma(540;0.146) GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018) Nedocromil(DB00716) AGGTGTCCCTCCAGAGATGTT 0.498000 15 12 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126240238 126240238 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr4:126240238C>T ENST00000394329.3 + 1 2685 c.2672C>T c.(2671-2673)cCc>cTc p.P891L NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 891 Cadherin 8. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 GACAACTCTCCCCATTTCCTT 0.478000 8 25 0 0 1 0 0 PCDH10 57575 broad.mit.edu 37 4 134072073 134072073 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr4:134072073C>T ENST00000264360.4 + 1 1604 c.778C>T c.(778-780)Cca>Tca p.P260S NM_032961.1 NP_116586.1 Q9P2E7 PCD10_HUMAN protocadherin 10 260 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2) 136 LUSC - Lung squamous cell carcinoma(193;0.227) TGTGTCCCTACCAGAGAACTC 0.617000 12 63 0 0 1 0 0 AACS 65985 broad.mit.edu 37 12 125587578 125587578 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:125587578C>T ENST00000316519.6 + 7 924 c.718C>T c.(718-720)Cct>Tct p.P240S AACS_ENST00000261686.6_Missense_Mutation_p.P240S NM_023928.3 NP_076417.2 Q86V21 AACS_HUMAN acetoacetyl-CoA synthetase 240 fatty acid metabolic process cytosol acetoacetate-CoA ligase activity|ATP binding breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1) 26 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843) GGTGGTGATTCCTTATGTGTC 0.473000 49 203 0 0 1 0 0 CLEC4G 339390 broad.mit.edu 37 19 7795971 7795971 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:7795971G>A ENST00000328853.5 - 4 292 c.224C>T c.(223-225)tCg>tTg p.S75L CLEC4G_ENST00000598081.1_5'UTR NM_001244856.1|NM_198492.3 NP_001231785.1|NP_940894.1 Q6UXB4 CLC4G_HUMAN C-type lectin domain family 4, member G 75 integral to membrane protein binding|sugar binding breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(1) 6 CGTCTGCTTCGAGGCTGGAAC 0.697000 10 5 0 0 1 0 0 DSCAML1 57453 broad.mit.edu 37 11 117395755 117395755 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:117395755G>A ENST00000321322.6 - 5 883 c.882C>T c.(880-882)tcC>tcT p.S294S DSCAML1_ENST00000527706.1_Intron NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 234 Ig-like C2-type 3. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) ACACTTCCTGGGAGTGGAAGC 0.697000 6 8 0 0 1 0 0 RIC8B 55188 broad.mit.edu 37 12 107208848 107208848 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:107208848C>T ENST00000392837.4 + 3 658 c.507C>T c.(505-507)ttC>ttT p.F169F RIC8B_ENST00000549643.1_Intron|RIC8B_ENST00000392839.2_Silent_p.F169F|RIC8B_ENST00000355478.2_Silent_p.F129F Q9NVN3 RIC8B_HUMAN RIC8 guanine nucleotide exchange factor B 169 regulation of G-protein coupled receptor protein signaling pathway cell cortex|cytosol|plasma membrane G-protein alpha-subunit binding|guanyl-nucleotide exchange factor activity kidney(2)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1) 19 GCTTGCTCTTCCTTCTGTCAC 0.463000 48 116 0 0 1 0 0 LHFPL2 10184 broad.mit.edu 37 5 77805826 77805826 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:77805826G>A ENST00000380345.2 - 4 886 c.211C>T c.(211-213)Cca>Tca p.P71S LHFPL2_ENST00000515007.2_Missense_Mutation_p.P71S NM_005779.2 NP_005770.1 Q6ZUX7 LHPL2_HUMAN lipoma HMGIC fusion partner-like 2 71 integral to membrane endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1) 6 all_lung(232;0.000409)|Lung NSC(167;0.00108)|Ovarian(174;0.0107)|Prostate(461;0.218) OV - Ovarian serous cystadenocarcinoma(54;6.48e-46)|Epithelial(54;8.43e-42)|all cancers(79;1.42e-36) TGCACCCCTGGGTTCCGGATG 0.726000 12 10 0 0 1 0 0 STUB1 10273 broad.mit.edu 37 16 731314 731314 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr16:731314G>A ENST00000565677.1 + 2 713 c.106G>A c.(106-108)Gag>Aag p.E36K STUB1_ENST00000219548.4_Missense_Mutation_p.E108K|STUB1_ENST00000564370.1_Missense_Mutation_p.E36K|STUB1_ENST00000566181.2_3'UTR Q9UNE7 CHIP_HUMAN STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase 108 cellular response to misfolded protein|DNA repair|misfolded or incompletely synthesized protein catabolic process|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K63-linked ubiquitination|protein maturation|regulation of glucocorticoid metabolic process|ubiquitin-dependent SMAD protein catabolic process cytoplasm|nuclear inclusion body|ubiquitin conjugating enzyme complex|ubiquitin ligase complex Hsp70 protein binding|Hsp90 protein binding|kinase binding|misfolded protein binding|protein binding, bridging|protein homodimerization activity|SMAD binding|TPR domain binding|ubiquitin-ubiquitin ligase activity endometrium(2)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 6 Hepatocellular(780;0.00335) GCTGGAGATGGAGAGCTATGA 0.672000 12 38 0 0 1 0 0 PCDHGB6 56100 broad.mit.edu 37 5 140788355 140788355 + Missense_Mutation SNP C C G TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:140788355C>G ENST00000520790.1 + 1 586 c.586C>G c.(586-588)Ctg>Gtg p.L196V PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018926.2|NM_032100.1 NP_061749.1|NP_115271.1 breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2) 48 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGAGTTATCTCTGGAGAAACT 0.403000 7 14 0 0 1 0 0 CRTAC1 55118 broad.mit.edu 37 10 99655718 99655718 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:99655718C>T ENST00000370597.3 - 10 1596 c.1241G>A c.(1240-1242)gGa>gAa p.G414E CRTAC1_ENST00000298819.4_Missense_Mutation_p.G414E|CRTAC1_ENST00000370591.2_Missense_Mutation_p.G414E NM_018058.6 NP_060528.3 Q9NQ79 CRAC1_HUMAN cartilage acidic protein 1 414 proteinaceous extracellular matrix calcium ion binding autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 35 Colorectal(252;0.24) Epithelial(162;2.18e-10)|all cancers(201;3.27e-09) CATCCCGTCTCCGTCGAAGTC 0.582000 16 35 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9089073 9089073 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:9089073G>A ENST00000397910.4 - 1 2945 c.2742C>T c.(2740-2742)tcC>tcT p.S914S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 914 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 TCACTAGGTGGGATGAAGAGA 0.517000 10 1 0 0 1 0 0 RBM26 64062 broad.mit.edu 37 13 79951531 79951531 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr13:79951531C>T ENST00000438737.2 - 3 750 c.310G>A c.(310-312)Gat>Aat p.D104N RBM26_ENST00000438724.1_Missense_Mutation_p.D104N|RBM26_ENST00000267229.7_Missense_Mutation_p.D104N Q5T8P6 RBM26_HUMAN RNA binding motif protein 26 104 mRNA processing nucleotide binding|protein binding|RNA binding|zinc ion binding NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 33 Acute lymphoblastic leukemia(28;0.0279) GBM - Glioblastoma multiforme(99;0.0188) TTCTTTATATCTTTTTCTTGG 0.343000 14 25 0 0 1 0 0 PADI3 51702 broad.mit.edu 37 1 17607202 17607202 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:17607202G>A ENST00000375460.3 + 15 1712 c.1672G>A c.(1672-1674)Gag>Aag p.E558K NM_016233.2 NP_057317.2 Q9ULW8 PADI3_HUMAN peptidyl arginine deiminase, type III 558 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) GCTGAAGCGGGAGCTGGGCCT 0.592000 26 72 0 0 1 0 0 TENC1 23371 broad.mit.edu 37 12 53453558 53453558 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:53453558G>A ENST00000314250.6 + 18 2423 c.2133G>A c.(2131-2133)agG>agA p.R711R TENC1_ENST00000451358.1_Silent_p.R701R|TENC1_ENST00000552570.1_Silent_p.R711R|TENC1_ENST00000314276.3_Silent_p.R721R|TENC1_ENST00000546602.1_Silent_p.R711R|TENC1_ENST00000379902.3_Silent_p.R587R|TENC1_ENST00000549700.1_Silent_p.R711R NM_170754.2 NP_736610.2 Q63HR2 TENC1_HUMAN tensin like C1 domain containing phosphatase (tensin 2) 711 intracellular signal transduction|negative regulation of cell proliferation focal adhesion metal ion binding|phosphoprotein phosphatase activity|protein binding central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3) 34 GGCTGGAGAGGGAGGCTGGAG 0.667000 14 25 0 0 1 0 0 NUP85 79902 broad.mit.edu 37 17 73230731 73230731 + Splice_Site SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:73230731G>A ENST00000447371.2 + 16 1535 c.e16-1 NUP85_ENST00000579298.1_Splice_Site|NUP85_ENST00000579324.1_Splice_Site|NUP85_ENST00000541827.1_Splice_Site|NUP85_ENST00000540768.1_Splice_Site|NUP85_ENST00000245544.4_Splice_Site Q9BW27 NUP85_HUMAN nucleoporin 85kDa carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle protein binding endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 16 all_lung(278;0.14)|Lung NSC(278;0.168) all cancers(21;3.45e-06) TTTCGCCATAGGAAAGTATCG 0.517000 44 98 0 0 1 0 0 IKZF4 64375 broad.mit.edu 37 12 56428794 56428794 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:56428794C>T ENST00000262032.5 + 12 1804 c.1437C>T c.(1435-1437)ccC>ccT p.P479P RP11-603J24.4_ENST00000551846.1_RNA|IKZF4_ENST00000547791.1_Silent_p.P434P|IKZF4_ENST00000547167.1_Silent_p.P479P|IKZF4_ENST00000431367.2_Silent_p.P377P Q9H2S9 IKZF4_HUMAN IKAROS family zinc finger 4 (Eos) 479 negative regulation of transcription, DNA-dependent nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1) 8 UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123) GTCCCCCACCCCAGCCACCTC 0.657000 10 16 0 0 1 0 0 OR5A2 219981 broad.mit.edu 37 11 59189730 59189730 + Missense_Mutation SNP T T C TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:59189730T>C ENST00000302040.4 - 1 719 c.697A>G c.(697-699)Aca>Gca p.T233A NM_001001954.1 NP_001001954.1 Q8NGI9 OR5A2_HUMAN olfactory receptor, family 5, subfamily A, member 2 233 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 21 GTCCTACCTGTAGCTGAGCTG 0.483000 12 30 0 0 1 0 0 PSG2 5670 broad.mit.edu 37 19 43579507 43579507 + Splice_Site SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:43579507G>A ENST00000406487.1 - 3 806 c.709_splice c.e3+1 p.L236_splice NM_031246.3 NP_112536.2 P11465 PSG2_HUMAN pregnancy specific beta-1-glycoprotein 2 236 cell migration|female pregnancy extracellular region central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2) 49 Prostate(69;0.00682) GATACTCACGGAGGAGATTCA 0.527000 112 208 0 0 1 0 0 KIAA2018 205717 broad.mit.edu 37 3 113377932 113377932 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:113377932G>A ENST00000316407.4 - 7 3007 c.2597C>T c.(2596-2598)tCt>tTt p.S866F KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Missense_Mutation_p.S866F NM_001009899.2 NP_001009899.2 Q68DE3 K2018_HUMAN KIAA2018 866 Ser-rich. regulation of transcription, DNA-dependent membrane|nucleus calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 80 AACACCCAAAGAATGTGAAGC 0.448000 25 40 0 0 1 0 0 GHSR 2693 broad.mit.edu 37 3 172165499 172165499 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:172165499G>A ENST00000241256.2 - 1 747 c.705C>T c.(703-705)atC>atT p.I235I GHSR_ENST00000427970.1_Silent_p.I235I NM_198407.2 NP_940799.1 Q92847 GHSR_HUMAN growth hormone secretagogue receptor 235 actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 33 Ovarian(172;0.00143)|Breast(254;0.197) Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235) GCTTCCTGCCGATGAGACTGT 0.592000 27 27 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 2975987 2975987 + Missense_Mutation SNP G G T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:2975987G>T ENST00000520002.1 - 43 6922 c.6367C>A c.(6367-6369)Cat>Aat p.H2123N CSMD1_ENST00000602723.1_Missense_Mutation_p.H2123N|CSMD1_ENST00000400186.3_Missense_Mutation_p.H2123N|CSMD1_ENST00000537824.1_Missense_Mutation_p.H2122N|CSMD1_ENST00000602557.1_Missense_Mutation_p.H2123N|CSMD1_ENST00000542608.1_Missense_Mutation_p.H2122N Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 2123 Sushi 12. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) AGGACAGGATGGCCTATTAGA 0.453000 23 38 7.92952e-12 8.02318e-12 1 1 0 FRMPD2 143162 broad.mit.edu 37 10 49376703 49376703 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:49376703C>T ENST00000374201.3 - 27 3774 c.3472G>A c.(3472-3474)Gaa>Aaa p.E1158K FRMPD2_ENST00000407470.4_Missense_Mutation_p.E1126K|FRMPD2_ENST00000463706.1_5'UTR|FRMPD2_ENST00000305531.3_Missense_Mutation_p.E1133K|FRMPD2_ENST00000474573.1_Missense_Mutation_p.E110K NM_001018071.3 NP_001018081.3 Q68DX3 FRPD2_HUMAN FERM and PDZ domain containing 2 1158 PDZ 3. tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 66 Kidney(211;0.201) AGCGTGACTTCCTGTGGGGCC 0.567000 58 13 0 0 1 0 0 PRAMEF2 65122 broad.mit.edu 37 1 12919596 12919596 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:12919596C>T ENST00000240189.2 + 3 423 c.336C>T c.(334-336)ttC>ttT p.F112F NM_023014.1 NP_075390.1 O60811 PRAM2_HUMAN PRAME family member 2 112 breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4) 42 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) ATGAGAATTTCTGGGCCAGAT 0.557000 39 37 0 0 1 0 0 TIE1 7075 broad.mit.edu 37 1 43774666 43774666 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:43774666C>T ENST00000372476.3 + 8 1131 c.1052C>T c.(1051-1053)cCc>cTc p.P351L TIE1_ENST00000433781.2_5'UTR|TIE1_ENST00000441333.2_Intron NM_001253357.1|NM_005424.4 NP_001240286.1|NP_005415.1 P35590 TIE1_HUMAN tyrosine kinase with immunoglobulin-like and EGF-like domains 1 351 mesoderm development integral to plasma membrane ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 70 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0505) GACCGGATCCCCCAGATCCTC 0.602000 7 39 0 0 1 0 0 NRK 203447 broad.mit.edu 37 X 105153194 105153194 + Nonsense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:105153194C>T ENST00000428173.2 + 13 1867 c.1564C>T c.(1564-1566)Cag>Tag p.Q522* NRK_ENST00000243300.9_Nonsense_Mutation_p.Q521* Q7Z2Y5 NRK_HUMAN Nik related kinase 521 Gln-rich. G -> S (in Ref. 1; CAD98108). ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity p.Q521*(1) breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2) 76 AGAGGAATTTCAGGGTCAAGA 0.542000 HNSCC(51;0.14) 19 38 0 0 1 0 0 KCNA4 3739 broad.mit.edu 37 11 30033388 30033388 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:30033388C>T ENST00000328224.6 - 2 2071 c.838G>A c.(838-840)Gaa>Aaa p.E280K NM_002233.3 NP_002224.1 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 4 280 voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 GCCCTGTCTTCCTCTTCTCTC 0.507000 9 33 0 0 1 0 0 GPR179 440435 broad.mit.edu 37 17 36482359 36482359 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:36482359C>T ENST00000342292.4 - 11 7113 c.7093G>A c.(7093-7095)Gat>Aat p.D2365N GPR179_ENST00000584976.1_Intron NM_001004334.2 NP_001004334.2 Q6PRD1 GP179_HUMAN G protein-coupled receptor 179 2365 integral to membrane|plasma membrane G-protein coupled receptor activity breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) TACTCCCAATCCCAAGGATAG 0.488000 21 42 0 0 1 0 0 PLD1 5337 broad.mit.edu 37 3 171395396 171395396 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:171395396G>A ENST00000342215.6 - 15 1743 c.1628C>T c.(1627-1629)tCg>tTg p.S543L PLD1_ENST00000340989.4_Silent_p.F652F|PLD1_ENST00000356327.5_Silent_p.F614F|PLD1_ENST00000351298.4_Silent_p.F652F Q13393 PLD1_HUMAN phospholipase D1, phosphatidylcholine-specific 0 Catalytic. cell communication|chemotaxis|Ras protein signal transduction endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity p.F652F(1) breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 63 all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) Choline(DB00122) CTTTGAAGACGAAATTGCAGT 0.448000 31 99 0 0 1 0 0 MORN4 118812 broad.mit.edu 37 10 99376134 99376134 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:99376134G>A ENST00000335628.3 - 4 500 c.501C>T c.(499-501)atC>atT p.I167I PI4K2A_ENST00000370649.3_Intron|MORN4_ENST00000307450.6_Silent_p.I109I|MORN4_ENST00000478953.1_3'UTR|PI4K2A_ENST00000555577.1_Intron Q8NDC4 MORN4_HUMAN MORN repeat containing 4 109 large_intestine(1)|lung(1)|stomach(2) 4 CATTGCGGGGGATTCCATGAG 0.502000 16 38 0 0 1 0 0 TSPYL5 85453 broad.mit.edu 37 8 98289703 98289703 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:98289703C>T ENST00000322128.3 - 1 473 c.370G>A c.(370-372)Gga>Aga p.G124R NM_033512.2 NP_277047.2 Q86VY4 TSYL5_HUMAN TSPY-like 5 124 cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth nucleus protein binding cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 20 Breast(36;2.56e-06) CCCGCTGTTCCCACGAAGACA 0.721000 10 27 0 0 1 0 0 OR10Q1 219960 broad.mit.edu 37 11 57996128 57996128 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:57996128C>T ENST00000316770.2 - 1 262 c.220G>A c.(220-222)Gaa>Aaa p.E74K NM_001004471.2 NP_001004471.1 Q8NGQ4 O10Q1_HUMAN olfactory receptor, family 10, subfamily Q, member 1 74 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2) 35 Breast(21;0.0589) TAGCAGAGTTCCAGGAAAGAC 0.537000 25 53 0 0 1 0 0 TMEM202 338949 broad.mit.edu 37 15 72691193 72691193 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr15:72691193G>A ENST00000341689.3 + 2 335 c.281G>A c.(280-282)gGa>gAa p.G94E TMEM202_ENST00000567679.1_Intron NM_001080462.1 NP_001073931.1 A6NGA9 TM202_HUMAN transmembrane protein 202 94 integral to membrane NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 18 CTCTACGCAGGACTCTGGACC 0.537000 39 66 0 0 1 0 0 OR5F1 338674 broad.mit.edu 37 11 55761640 55761640 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:55761640C>T ENST00000278409.1 - 1 461 c.462G>A c.(460-462)ctG>ctA p.L154L NM_003697.1 NP_003688.1 O95221 OR5F1_HUMAN olfactory receptor, family 5, subfamily F, member 1 154 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L154L(1) endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 58 Esophageal squamous(21;0.00448) CCATGAAGTTCAGCAACCCTG 0.507000 33 35 0 0 1 0 0 FAM47A 158724 broad.mit.edu 37 X 34149011 34149011 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:34149011G>A ENST00000346193.3 - 1 1436 c.1385C>T c.(1384-1386)cCt>cTt p.P462L NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 462 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 TTCCCCACAAGGGGATTTATG 0.592000 23 55 0 0 1 0 0 STIP1 10963 broad.mit.edu 37 11 63963214 63963214 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:63963214C>T ENST00000358794.5 + 5 1295 c.742C>T c.(742-744)Cca>Tca p.P248S STIP1_ENST00000540501.1_3'UTR|STIP1_ENST00000543847.1_Missense_Mutation_p.P201S|STIP1_ENST00000538945.1_Missense_Mutation_p.P177S|STIP1_ENST00000305218.4_Missense_Mutation_p.P201S P31948 STIP1_HUMAN stress-induced-phosphoprotein 1 201 axon guidance|response to stress Golgi apparatus|nucleus endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1) 27 AACACCTCCACCACCACCCCC 0.507000 21 49 0 0 1 0 0 FHOD1 29109 broad.mit.edu 37 16 67272172 67272172 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr16:67272172C>T ENST00000258201.4 - 5 727 c.480G>A c.(478-480)gaG>gaA p.E160E FHOD1_ENST00000567687.1_Intron NM_013241.2 NP_037373.2 Q9Y613 FHOD1_HUMAN formin homology 2 domain containing 1 160 GBD/FH3. actin cytoskeleton organization cytoplasm|cytoskeleton|nucleus actin binding breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 34 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434) AGCTCAGCCCCTCTGAATGCA 0.592000 21 37 0 0 1 0 0 PRX 57716 broad.mit.edu 37 19 40903172 40903172 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:40903172G>A ENST00000324001.7 - 7 1357 c.1087C>T c.(1087-1089)Ccc>Tcc p.P363S PRX_ENST00000291825.7_3'UTR NM_181882.2 NP_870998.2 Q9BXM0 PRAX_HUMAN periaxin 363 axon ensheathment cytoplasm|nucleus|plasma membrane protein binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9) 47 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) CCAAATCGGGGAAAACTAAGG 0.632000 31 56 0 0 1 0 0 STXBP3 6814 broad.mit.edu 37 1 109299377 109299377 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:109299377C>T ENST00000370008.3 + 4 297 c.247C>T c.(247-249)Ccg>Tcg p.P83S NM_007269.2 NP_009200.2 O00186 STXB3_HUMAN syntaxin binding protein 3 83 Mediates interaction with DOC2B (By similarity). negative regulation of calcium ion-dependent exocytosis|neutrophil degranulation|platelet aggregation|protein transport|vesicle docking involved in exocytosis cytosol|nucleus|platelet alpha granule|specific granule|tertiary granule syntaxin-2 binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1) 13 all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508) Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231) TTTCATCACTCCGACATCAAA 0.303000 6 19 0 0 1 0 0 RCBTB1 55213 broad.mit.edu 37 13 50123614 50123614 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr13:50123614G>A ENST00000378302.2 - 9 1285 c.1025C>T c.(1024-1026)tCg>tTg p.S342L RCBTB1_ENST00000258646.3_Missense_Mutation_p.S342L|RCBTB1_ENST00000546015.1_Missense_Mutation_p.S342L NM_018191.3 NP_060661.3 Q8NDN9 RCBT1_HUMAN regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1 342 cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1) 16 Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;4.7e-09) GAGGCGCCACGAGACGGCGGG 0.592000 16 11 0 0 1 0 0 ATP11C 286410 broad.mit.edu 37 X 138825761 138825761 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:138825761C>T ENST00000370557.1 - 26 4005 c.2978G>A c.(2977-2979)gGa>gAa p.G993E ATP11C_ENST00000370543.1_Missense_Mutation_p.G999E|ATP11C_ENST00000359686.2_Missense_Mutation_p.G999E|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000327569.3_Missense_Mutation_p.G999E|ATP11C_ENST00000361648.2_Missense_Mutation_p.G999E Q8NB49 AT11C_HUMAN ATPase, class VI, type 11C 999 ATP biosynthetic process integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3) 75 Acute lymphoblastic leukemia(192;0.000127) AACAATGGTTCCAAAAGTCCA 0.254000 7 19 0 0 1 0 0 OR9K2 441639 broad.mit.edu 37 12 55524117 55524117 + Missense_Mutation SNP T T A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:55524117T>A ENST00000305377.5 + 1 653 c.565T>A c.(565-567)Ttt>Att p.F189I NM_001005243.1 NP_001005243.1 Q8NGE7 OR9K2_HUMAN olfactory receptor, family 9, subfamily K, member 2 189 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2) 31 TAGCATGACATTTACTTTATC 0.428000 46 56 0 0 1 0 0 CCDC80 151887 broad.mit.edu 37 3 112357969 112357969 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:112357969C>T ENST00000206423.3 - 2 1737 c.784G>A c.(784-786)Gac>Aac p.D262N CCDC80_ENST00000439685.2_Missense_Mutation_p.D262N NM_199511.1|NM_199512.1 NP_955805.1|NP_955806.1 Q76M96 CCD80_HUMAN coiled-coil domain containing 80 262 p.D262N(1) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4) 51 GGGCCTTGGTCGATGACCTCG 0.572000 45 71 0 0 1 0 0 CSNK1A1L 122011 broad.mit.edu 37 13 37679102 37679102 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr13:37679102C>T ENST00000379800.3 - 1 701 c.292G>A c.(292-294)Gaa>Aaa p.E98K NM_145203.5 NP_660204.2 Q8N752 KC1AL_HUMAN casein kinase 1, alpha 1-like 98 Protein kinase. Wnt receptor signaling pathway cytoplasm ATP binding|protein serine/threonine kinase activity NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 37 Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109) all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407) AAGAGGTCTTCGAGGCTGGGT 0.453000 33 53 0 0 1 0 0 OR52B4 143496 broad.mit.edu 37 11 4388762 4388762 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:4388762C>T ENST00000408920.2 - 1 854 c.764G>A c.(763-765)gGg>gAg p.G255E NM_001005161.3 NP_001005161.2 Q8NGK2 O52B4_HUMAN olfactory receptor, family 52, subfamily B, member 4 255 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2) 31 Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577) Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19) GATGCCAGACCCATAAAAGAG 0.493000 27 56 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105418941 105418941 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr14:105418941C>T ENST00000333244.5 - 7 2966 c.2847G>A c.(2845-2847)aaG>aaA p.K949K AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 949 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) TCACTTCCGCCTTGGGGCCTT 0.617000 96 180 0 0 1 0 0 DDR2 4921 broad.mit.edu 37 1 162725086 162725086 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:162725086C>T ENST00000367922.2 + 7 996 c.558C>T c.(556-558)gtC>gtT p.V186V DDR2_ENST00000367921.3_Silent_p.V186V NM_001014796.1 NP_001014796.1 Q16832 DDR2_HUMAN discoidin domain receptor tyrosine kinase 2 186 cell adhesion integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1) 7 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.113) ACGGCTGTGTCTGGCTAGGTA 0.478000 9 25 0 0 1 0 0 PGBD5 79605 broad.mit.edu 37 1 230513310 230513310 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:230513310C>T ENST00000321327.2 - 1 57 c.58G>A c.(58-60)Gga>Aga p.G20R PGBD5_ENST00000525115.1_Missense_Mutation_p.G20R|PGBD5_ENST00000391860.1_Intron Q8N414 PGBD5_HUMAN piggyBac transposable element derived 5 20 integral to membrane biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1) 33 Breast(184;0.0397) Prostate(94;0.167) GBM - Glioblastoma multiforme(131;0.201) AGCTCAGGTCCTGCAGAGTCC 0.547000 6 9 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179577493 179577493 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:179577493C>T ENST00000589042.1 - 94 27483 c.27259G>A c.(27259-27261)Gga>Aga p.G9087R TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G7843R|TTN_ENST00000591111.1_Missense_Mutation_p.G8770R|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 8770 Ig-like 74. 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) GTATATTCTCCACTTTGTGAT 0.413000 13 43 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13865992 13865992 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:13865992C>T ENST00000265104.4 - 27 4244 c.4140G>A c.(4138-4140)cgG>cgA p.R1380R CTB-51A17.1_ENST00000503244.1_RNA NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1380 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) TGATGTATTTCCGATAGATAT 0.323000 Kartagener syndrome 20 34 0 0 1 0 0 TENM1 10178 broad.mit.edu 37 X 123517859 123517859 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:123517859G>A ENST00000422452.2 - 30 6985 c.6922C>T c.(6922-6924)Cac>Tac p.H2308Y TENM1_ENST00000371130.3_Missense_Mutation_p.H2301Y|STAG2_ENST00000469481.1_Intron NM_001163278.1|NM_001163279.1 NP_001156750.1|NP_001156751.1 teneurin transmembrane protein 1 GCAATAAGGTGACCTTGGAGA 0.433000 62 118 0 0 1 0 0 TRPC7 57113 broad.mit.edu 37 5 135651434 135651434 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:135651434C>T ENST00000513104.1 - 3 1096 c.814G>A c.(814-816)Gat>Aat p.D272N TRPC7_ENST00000355180.3_Intron|TRPC7-AS2_ENST00000513958.1_RNA|TRPC7_ENST00000426057.2_Intron NM_020389.2 NP_065122.1 Q9HCX4 TRPC7_HUMAN transient receptor potential cation channel, subfamily C, member 7 272 axon guidance|platelet activation integral to membrane|plasma membrane calcium channel activity|protein binding NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3) 46 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) ACTACAAAATCCTTGCATTGC 0.493000 6 22 0 0 1 0 0 KCND1 3750 broad.mit.edu 37 X 48826201 48826201 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:48826201G>A ENST00000218176.3 - 1 1775 c.478C>T c.(478-480)Cca>Tca p.P160S NM_004979.4 NP_004970.3 Q9NSA2 KCND1_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 1 160 voltage-gated potassium channel complex metal ion binding|voltage-gated potassium channel activity endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2) 24 GGCAGGGCTGGGCCGTCCCCG 0.647000 11 14 0 0 1 0 0 LRRC30 339291 broad.mit.edu 37 18 7231424 7231424 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr18:7231424C>T ENST00000383467.2 + 1 302 c.288C>T c.(286-288)atC>atT p.I96I NM_001105581.1 NP_001099051.1 A6NM36 LRC30_HUMAN leucine rich repeat containing 30 96 central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3) 31 TGACCCGGATCGTGGTCCTGA 0.577000 18 37 0 0 1 0 0 PRB3 5544 broad.mit.edu 37 12 11420854 11420854 + RNA SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:11420854G>A ENST00000381842.3 - 0 366 PRB3_ENST00000440870.3_RNA|PRB3_ENST00000279573.6_RNA|PRB3_ENST00000538488.1_RNA NM_006249.4 NP_006240.4 Q04118 PRB3_HUMAN proline-rich protein BstNI subfamily 3 extracellular region Gram-negative bacterial cell surface binding breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5) 25 OV - Ovarian serous cystadenocarcinoma(49;0.201) GGGACCTTGGGACTGGTTTCC 0.627000 91 239 0 0 1 0 0 CDC34 997 broad.mit.edu 37 19 536325 536325 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:536325C>T ENST00000215574.4 + 3 565 c.347C>T c.(346-348)cCc>cTc p.P116L NM_004359.1 NP_004350.1 P49427 UB2R1_HUMAN cell division cycle 34 116 DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|negative regulation of cAMP-mediated signaling|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination cytoplasm|nucleus ATP binding|protein binding|ubiquitin-protein ligase activity large_intestine(1)|lung(1) 2 all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AGGTGGAACCCCACGCAGAAC 0.642000 7 4 0 0 1 0 0 IFI30 10437 broad.mit.edu 37 19 18288548 18288548 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:18288548C>T ENST00000407280.2 + 6 732 c.664C>T c.(664-666)Ctt>Ttt p.L222F PIK3R2_ENST00000593731.1_3'UTR NM_006332.3 NP_006323.2 P13284 GILT_HUMAN interferon, gamma-inducible protein 30 222 antigen processing and presentation of exogenous peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway cell junction|extracellular region|lysosome oxidoreductase activity, acting on a sulfur group of donors endometrium(1)|kidney(2)|large_intestine(1)|stomach(1) 5 GACCCAGCTCCTTACCCTTGT 0.582000 8 10 0 0 1 0 0 MAST4 375449 broad.mit.edu 37 5 66461818 66461818 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:66461818C>T ENST00000404260.3 + 29 7128 c.6820C>T c.(6820-6822)Ccc>Tcc p.P2274S MAST4_ENST00000261569.7_Missense_Mutation_p.P2077S|MAST4_ENST00000403625.2_Missense_Mutation_p.P2271S|MAST4_ENST00000405643.1_Missense_Mutation_p.P2092S|MAST4_ENST00000403666.1_Missense_Mutation_p.P2082S O15021 MAST4_HUMAN microtubule associated serine/threonine kinase family member 4 2274 cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) AGAAGGTGGGCCCTCTGTCCC 0.622000 OREG0016638 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 29 0 0 1 0 0 MAGEE2 139599 broad.mit.edu 37 X 75004090 75004090 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:75004090G>A ENST00000373359.2 - 1 989 c.797C>T c.(796-798)gCc>gTc p.A266V NM_138703.4 NP_619648.1 Q8TD90 MAGE2_HUMAN melanoma antigen family E, 2 266 MAGE 1. autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 AAACTTCAGGGCTTCCATCTT 0.488000 59 65 0 0 1 0 0 CPB1 1360 broad.mit.edu 37 3 148563319 148563319 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:148563319C>T ENST00000491148.1 + 10 1221 c.887C>T c.(886-888)tCc>tTc p.S296F CPB1_ENST00000282957.4_Missense_Mutation_p.S296F P15086 CBPB1_HUMAN carboxypeptidase B1 (tissue) 296 proteolysis extracellular region metallocarboxypeptidase activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 38 LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115) AAACTCTCTTCCATCAAGGCA 0.473000 31 67 0 0 1 0 0 TAOK2 9344 broad.mit.edu 37 16 29999289 29999289 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr16:29999289C>T ENST00000308893.4 + 16 4739 c.3696C>T c.(3694-3696)ccC>ccT p.P1232P TAOK2_ENST00000416441.2_Silent_p.P1059P|TAOK2_ENST00000543033.1_Silent_p.P1119P|TAOK2_ENST00000279394.3_Intron NM_001252043.1|NM_016151.3 NP_001238972.1|NP_057235.2 Q9UL54 TAOK2_HUMAN TAO kinase 2 1232 actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1) 22 GGGCCCTGCCCCCCTGGAGGT 0.652000 7 10 0 0 1 0 0 TCTN2 79867 broad.mit.edu 37 12 124156103 124156103 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:124156103C>T ENST00000303372.5 + 2 260 c.132C>T c.(130-132)tcC>tcT p.S44S TCTN2_ENST00000426174.2_Silent_p.S44S NM_001143850.2|NM_024809.4 NP_001137322.1|NP_079085.2 Q96GX1 TECT2_HUMAN tectonic family member 2 44 cilium assembly|smoothened signaling pathway integral to membrane p.S44S(1) breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 30 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451) TCAGCGCGTCCCTGGTCGGAG 0.622000 23 57 0 0 1 0 0 COL7A1 1294 broad.mit.edu 37 3 48617032 48617032 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:48617032G>A ENST00000328333.8 - 58 5331 c.5224C>T c.(5224-5226)Cct>Tct p.P1742S COL7A1_ENST00000454817.1_Missense_Mutation_p.P1742S NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 1742 Triple-helical region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CTTTCCCCAGGGGCTCCAGGG 0.622000 23 37 0 0 1 0 0 AKAP3 10566 broad.mit.edu 37 12 4736590 4736590 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:4736590G>A ENST00000545990.2 - 5 2002 c.1478C>T c.(1477-1479)tCc>tTc p.S493F AKAP3_ENST00000228850.1_Missense_Mutation_p.S493F NM_001278309.1 NP_001265238.1 O75969 AKAP3_HUMAN A kinase (PRKA) anchor protein 3 493 acrosome reaction|cellular component movement acrosomal vesicle protein kinase A binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 51 GTACTCAAAGGAAATGTCTGA 0.453000 10 20 0 0 1 0 0 CPAMD8 27151 broad.mit.edu 37 19 17057950 17057950 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:17057950G>A ENST00000443236.1 - 21 2768 c.2737C>T c.(2737-2739)Ccc>Tcc p.P913S NM_015692.2 NP_056507.2 Q8IZJ3 CPMD8_HUMAN C3 and PZP-like, alpha-2-macroglobulin domain containing 8 866 extracellular space|plasma membrane serine-type endopeptidase inhibitor activity breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5) 82 GCCTCCCCGGGGGCCACACAC 0.597000 64 111 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92577555 92577555 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:92577555G>A ENST00000298047.6 + 18 11039 c.11022G>A c.(11020-11022)cgG>cgA p.R3674R FAT3_ENST00000533797.1_Silent_p.R9R|FAT3_ENST00000525166.1_Silent_p.R3524R|FAT3_ENST00000409404.2_Silent_p.R3674R Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 3674 homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) GCACCCTGCGGAATGCAGTCC 0.587000 TCGA Ovarian(4;0.039) 21 24 0 0 1 0 0 C3AR1 719 broad.mit.edu 37 12 8212283 8212283 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:8212283C>T ENST00000307637.4 - 2 702 c.499G>A c.(499-501)Gac>Aac p.D167N NM_004054.2 NP_004045.1 Q16581 C3AR_HUMAN complement component 3a receptor 1 167 blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response integral to plasma membrane C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1) 20 Kidney(36;0.0893) TTATGGTTGTCTGTAGTGAAG 0.433000 41 75 0 0 1 0 0 SLC25A19 60386 broad.mit.edu 37 17 73282738 73282738 + Silent SNP G G A rs138021838 by1000genomes TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:73282738G>A ENST00000402418.3 - 1 1017 c.108C>T c.(106-108)ttC>ttT p.F36F SLC25A19_ENST00000580994.1_Silent_p.F36F|SLC25A19_ENST00000320362.3_Silent_p.F36F|SLC25A19_ENST00000416858.2_Silent_p.F36F|SLC25A19_ENST00000375261.4_Silent_p.F36F|SLC25A19_ENST00000442286.2_Silent_p.F36F Q9HC21 TPC_HUMAN solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19 36 integral to membrane|mitochondrial inner membrane binding|deoxynucleotide transmembrane transporter activity breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1) 9 all_cancers(13;5.98e-08)|all_epithelial(9;1.16e-08)|Breast(9;3.1e-08) all cancers(21;6.82e-07)|Epithelial(20;6.86e-06) TGATGACGTCGAAGGGACTGA 0.498000 20 33 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49433077 49433077 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:49433077G>A ENST00000301067.7 - 33 8293 c.8294C>T c.(8293-8295)tCc>tTc p.S2765F NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D GCTAGGGAAGGACCCTGGCCC 0.617000 24 41 0 0 1 0 0 LRRN3 54674 broad.mit.edu 37 7 110764643 110764643 + Missense_Mutation SNP A A T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:110764643A>T ENST00000451085.1 + 4 2861 c.1815A>T c.(1813-1815)aaA>aaT p.K605N IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000405709.2_Intron|LRRN3_ENST00000422987.3_Missense_Mutation_p.K605N|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000452895.1_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.K605N|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000415362.1_Intron NM_001099660.1 NP_001093130.1 Q9H3W5 LRRN3_HUMAN leucine rich repeat neuronal 3 605 Fibronectin type-III. integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 55 UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125) ACAGAAAAAAATGTGTAAATG 0.363000 19 45 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141747122 141747122 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:141747122C>T ENST00000389484.3 - 17 3720 c.2749G>A c.(2749-2751)Gaa>Aaa p.E917K NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 917 LDL-receptor class A 4. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding 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) TGATTGGATTCATCTTCATTG 0.388000 TSP Lung(27;0.18) 33 28 0 0 1 0 0 LOXL2 4017 broad.mit.edu 37 8 23217678 23217678 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:23217678C>T ENST00000389131.3 - 3 825 c.456G>A c.(454-456)gaG>gaA p.E152E RP11-177H13.2_ENST00000519692.1_RNA NM_002318.2 NP_002309.1 Q9Y4K0 LOXL2_HUMAN lysyl oxidase-like 2 152 SRCR 1. aging|cell adhesion|protein modification process extracellular space|membrane copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Prostate(55;0.0453)|Breast(100;0.143) Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096) CACCGACATCCTCCGTGTGCT 0.522000 26 34 0 0 1 0 0 RIMBP3 85376 broad.mit.edu 37 22 20457160 20457160 + Missense_Mutation SNP T T A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr22:20457160T>A ENST00000426804.1 - 1 4626 c.4142A>T c.(4141-4143)gAg>gTg p.E1381V NM_015672.1 NP_056487.1 RIMS binding protein 3 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1) 13 Colorectal(54;0.0993)|Melanoma(16;0.165) LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224) CTCCTGCTCCTCCTTCAAAAC 0.592000 9 16 0 0 1 0 0 BGN 633 broad.mit.edu 37 X 152772638 152772638 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:152772638C>T ENST00000331595.4 + 7 1090 c.904C>T c.(904-906)Ctc>Ttc p.L302F BGN_ENST00000480756.1_3'UTR|BGN_ENST00000370204.1_Missense_Mutation_p.L241F NM_001711.4 NP_001702.1 P21810 PGS1_HUMAN biglycan 302 proteinaceous extracellular matrix|transport vesicle extracellular matrix structural constituent breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1) 16 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CCTCAAGCTCCTCCAGGTGAG 0.662000 19 12 0 0 1 0 0 UBA1 7317 broad.mit.edu 37 X 47060900 47060900 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:47060900C>T ENST00000335972.6 + 8 885 c.702C>T c.(700-702)tgC>tgT p.C234C UBA1_ENST00000377351.4_Silent_p.C234C NM_003334.3 NP_003325.2 P22314 UBA1_HUMAN ubiquitin-like modifier activating enzyme 1 234 2 approximate repeats. cell death|protein modification process ATP binding|ligase activity|protein binding|small protein activating enzyme activity breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 TGGTTACCTGCCTGGATGAGG 0.547000 12 43 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178916924 178916924 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:178916924C>T ENST00000263967.3 + 2 468 c.311C>T c.(310-312)cCa>cTa p.P104L NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 104 PI3K-ABD. epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.P104L(1)|p.P104R(1)|p.P104_G106>R(1)|p.E103_G106>D(1) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) GTAATTGAACCAGTAGGCAAC 0.353000 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 21 44 0 0 1 0 0 CIITA 4261 broad.mit.edu 37 16 11000927 11000927 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr16:11000927G>A ENST00000324288.8 + 11 1711 c.1578G>A c.(1576-1578)cgG>cgA p.R526R CIITA_ENST00000537380.1_Intron|CIITA_ENST00000381835.5_Intron NM_000246.3 NP_000237.2 P33076 C2TA_HUMAN class II, major histocompatibility complex, transactivator 526 NACHT. interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent nucleus activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2) 12 GCTCCCTCCGGGGGCTGCTGG 0.687000 T """FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6""" """PMBL, Hodgkin Lymphona, """ 22 34 0 0 1 0 0 GPSM3 63940 broad.mit.edu 37 6 32159644 32159644 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr6:32159644C>T ENST00000375040.3 - 3 579 c.187G>A c.(187-189)Gaa>Aaa p.E63K GPSM3_ENST00000375043.3_Missense_Mutation_p.E63K|GPSM3_ENST00000487761.1_Missense_Mutation_p.E60K NM_001276501.1 NP_001263430.1 Q9Y4H4 GPSM3_HUMAN G-protein signaling modulator 3 63 GoLoco 1. signal transduction cytoplasm GTPase activator activity|protein binding large_intestine(1) 1 AGAAGGAGTTCAGTCTGCAGG 0.672000 19 12 0 0 1 0 0 TNF 7124 broad.mit.edu 37 6 31544999 31544999 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr6:31544999G>A ENST00000449264.2 + 4 562 c.387G>A c.(385-387)gaG>gaA p.E129E NM_000594.3 NP_000585.2 P01375 TNFA_HUMAN tumor necrosis factor 129 activation of caspase activity|activation of MAPK activity|activation of MAPKKK activity|anti-apoptosis|cellular response to nicotine|chronic inflammatory response to antigenic stimulus|embryonic digestive tract development|induction of apoptosis via death domain receptors|induction of necroptosis by extracellular signals|leukocyte tethering or rolling|necrotic cell death|negative regulation of branching involved in lung morphogenesis|negative regulation of cytokine secretion involved in immune response|negative regulation of fat cell differentiation|negative regulation of interleukin-6 production|negative regulation of lipid catabolic process|negative regulation of lipid storage|negative regulation of viral genome replication|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of chemokine biosynthetic process|positive regulation of chemokine production|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of fever generation|positive regulation of heterotypic cell-cell adhesion|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of membrane protein ectodomain proteolysis|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of NFAT protein import into nucleus|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of podosome assembly|positive regulation of protein complex disassembly|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|receptor biosynthetic process|regulation of insulin secretion|response to glucocorticoid stimulus|response to salt stress|response to virus|sequestering of triglyceride|transformed cell apoptosis|tumor necrosis factor-mediated signaling pathway external side of plasma membrane|extracellular space|integral to plasma membrane|membrane raft|phagocytic cup|recycling endosome cytokine activity|identical protein binding|protease binding|transcription regulatory region DNA binding|tumor necrosis factor receptor binding large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(3) 8 Ovarian(999;0.00556) Adalimumab(DB00051)|Adenosine(DB00640)|Amrinone(DB01427)|Atorvastatin(DB01076)|Chloroquine(DB00608)|Clenbuterol(DB01407)|Etanercept(DB00005)|Glucosamine(DB01296)|Infliximab(DB00065)|Naltrexone(DB00704)|Pranlukast(DB01411)|Procaterol(DB01366)|Saquinavir(DB01232)|Simvastatin(DB00641)|Thalidomide(DB01041) TGCCATCAGAGGGCCTGTACC 0.632000 Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of 4 64 0 0 1 0 0 CHAF1B 8208 broad.mit.edu 37 21 37785504 37785504 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr21:37785504G>A ENST00000314103.4 + 12 1535 c.1384G>A c.(1384-1386)Ggg>Agg p.G462R NM_005441.2 NP_005432.1 Q13112 CAF1B_HUMAN chromatin assembly factor 1, subunit B (p60) 462 cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent CAF-1 complex|cytoplasm chromatin binding|histone binding|unfolded protein binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2) 20 CCCCTTGCCGGGGCCTTCGGA 0.627000 23 5 0 0 1 0 0 TRMU 55687 broad.mit.edu 37 22 46742369 46742369 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr22:46742369G>A ENST00000290846.4 + 4 746 c.406G>A c.(406-408)Gaa>Aaa p.E136K TRMU_ENST00000424260.2_Missense_Mutation_p.E101K|TRMU_ENST00000381019.3_Missense_Mutation_p.E136K NM_018006.4 NP_060476.2 O75648 MTU1_HUMAN tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase 136 mitochondrion ATP binding|sulfurtransferase activity|tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase activity|tRNA binding NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1) 10 Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248) CCTGGAAGATGAAGAAGTCTT 0.458000 31 52 0 0 1 0 0 SLC30A5 64924 broad.mit.edu 37 5 68412345 68412345 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:68412345C>T ENST00000396591.3 + 10 1807 c.1197C>T c.(1195-1197)atC>atT p.I399I CTC-498J12.3_ENST00000504129.1_RNA NM_022902.4 NP_075053.2 Q8TAD4 ZNT5_HUMAN solute carrier family 30 (zinc transporter), member 5 399 cellular zinc ion homeostasis|cobalt ion transport|regulation of proton transport|response to zinc ion apical plasma membrane|Golgi apparatus|integral to plasma membrane|membrane fraction|secretory granule membrane zinc ion binding|zinc ion transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16) OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177) CTCAATCGATCCCTAGGTTTA 0.373000 20 41 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37028493 37028493 + Silent SNP C C T rs151036171 TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:37028493C>T ENST00000358047.3 + 1 2062 c.2010C>T c.(2008-2010)ccC>ccT p.P670P NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 670 breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 CCCCGGAGCCCCCCGAGACTG 0.647000 43 38 0 0 1 0 0 COL9A2 1298 broad.mit.edu 37 1 40777366 40777366 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:40777366G>A ENST00000372748.3 - 9 535 c.439C>T c.(439-441)Cca>Tca p.P147S NM_001852.3 NP_001843.1 Q14055 CO9A2_HUMAN collagen, type IX, alpha 2 147 Triple-helical region 4 (COL4). axon guidance|skeletal system development collagen type IX endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2) 22 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;2.08e-17) GGCCCCGATGGTCCATCTGGT 0.612000 40 44 0 0 1 0 0 ATP8A1 10396 broad.mit.edu 37 4 42466779 42466779 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr4:42466779G>A ENST00000381668.5 - 27 2778 c.2547C>T c.(2545-2547)gcC>gcT p.A849A ATP8A1_ENST00000264449.10_Silent_p.A834A NM_006095.2 NP_006086.1 Q9Y2Q0 AT8A1_HUMAN ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 849 ATP biosynthetic process chromaffin granule membrane|integral to membrane|plasma membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 51 Phosphatidylserine(DB00144) TATAGTTCCAGGCACCATGAA 0.328000 15 44 0 0 1 0 0 SRGAP3 9901 broad.mit.edu 37 3 9055174 9055174 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:9055174C>T ENST00000383836.3 - 17 2392 c.1965G>A c.(1963-1965)ctG>ctA p.L655L SRGAP3_ENST00000360413.3_Silent_p.L631L NM_014850.3 NP_055665.1 O43295 SRGP2_HUMAN SLIT-ROBO Rho GTPase activating protein 3 655 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding SRGAP3/RAF1(6) breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 OV - Ovarian serous cystadenocarcinoma(96;0.0563) AGCAGATGGCCAGGTTGTAGG 0.542000 T RAF1 pilocytic astrocytoma 20 37 0 0 1 0 0 FOXN3 1112 broad.mit.edu 37 14 89628855 89628855 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr14:89628855G>A ENST00000345097.4 - 7 1492 c.1376C>T c.(1375-1377)tCc>tTc p.S459F FOXN3_ENST00000557258.1_Missense_Mutation_p.S437F|FOXN3_ENST00000261302.5_Missense_Mutation_p.S459F|FOXN3_ENST00000555353.1_Missense_Mutation_p.S437F NM_001085471.1 NP_001078940.1 O00409 FOXN3_HUMAN forkhead box N3 459 DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 GTGCAGGAGGGACCCTGCCGC 0.522000 34 50 0 0 1 0 0 CEP76 79959 broad.mit.edu 37 18 12678181 12678181 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr18:12678181G>A ENST00000262127.2 - 10 1775 c.1550C>T c.(1549-1551)tCc>tTc p.S517F CEP76_ENST00000423709.2_Missense_Mutation_p.S442F|RP11-973H7.2_ENST00000585331.1_RNA NM_024899.2 NP_079175.2 Q8TAP6 CEP76_HUMAN centrosomal protein 76kDa 517 G2/M transition of mitotic cell cycle|regulation of centriole replication centriole|cytosol protein binding endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 GTCAATTGTGGATGCACACAG 0.443000 43 65 0 0 1 0 0 S100A7 6278 broad.mit.edu 37 1 153430317 153430317 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:153430317G>A ENST00000368723.3 - 3 381 c.271C>T c.(271-273)Cat>Tat p.H91Y S100A7_ENST00000368722.1_Missense_Mutation_p.H91Y NM_002963.3 NP_002954.2 P31151 S10A7_HUMAN S100 calcium binding protein A7 91 angiogenesis|defense response to Gram-negative bacterium|innate immune response|keratinocyte differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|response to lipopolysaccharide|response to reactive oxygen species|sequestering of metal ion cytosol|endoplasmic reticulum|extracellular region|focal adhesion|nucleus calcium ion binding|RAGE receptor binding|zinc ion binding breast(1)|large_intestine(2)|lung(5)|skin(2) 10 all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) GCTGCTCCATGGCTCTGCTTG 0.517000 34 43 0 0 1 0 0 SLC35G5 83650 broad.mit.edu 37 8 11188892 11188892 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:11188892C>T ENST00000382435.4 + 1 496 c.277C>T c.(277-279)Ccc>Tcc p.P93S NM_054028.1 NP_473369.1 Q96KT7 AMCL2_HUMAN solute carrier family 35, member G5 93 DUF6 1. integral to membrane GCGTGGCGACCCCCTTCTGGG 0.592000 82 189 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152283285 152283285 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:152283285G>A ENST00000368799.1 - 3 4112 c.4077C>T c.(4075-4077)tcC>tcT p.S1359S FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1359 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) GCTGGTGGCGGGATCCATGTC 0.542000 Ichthyosis 93 324 0 0 1 0 0 KIAA1210 57481 broad.mit.edu 37 X 118281447 118281447 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:118281447C>T ENST00000402510.2 - 2 398 c.399G>A c.(397-399)caG>caA p.Q133Q NM_020721.1 NP_065772.1 Q9ULL0 K1210_HUMAN KIAA1210 133 breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 64 TTCCTGAATCCTGTTCTTGGA 0.502000 20 26 0 0 1 0 0 SLC1A2 6506 broad.mit.edu 37 11 35323144 35323144 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:35323144C>T ENST00000278379.3 - 6 1061 c.779G>A c.(778-780)gGa>gAa p.G260E SLC1A2_ENST00000606205.1_Missense_Mutation_p.G260E|SLC1A2_ENST00000395750.1_Missense_Mutation_p.G251E|SLC1A2_ENST00000395753.1_Missense_Mutation_p.G251E NM_004171.3 NP_004162.2 P43004 EAA2_HUMAN solute carrier family 1 (glial high affinity glutamate transporter), member 2 260 D-aspartate import|L-glutamate import|synaptic transmission integral to membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1) 24 all_lung(20;0.211)|all_epithelial(35;0.234) all_hematologic(20;0.109) STAD - Stomach adenocarcinoma(6;0.00731) L-Glutamic Acid(DB00142) GGCCTGATCTCCCATCTTCCC 0.378000 24 37 0 0 1 0 0 PLEC 5339 broad.mit.edu 37 8 145001681 145001681 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:145001681G>A ENST00000322810.4 - 27 4233 c.4064C>T c.(4063-4065)cCc>cTc p.P1355L PLEC_ENST00000527096.1_Missense_Mutation_p.P1241L|PLEC_ENST00000345136.3_Missense_Mutation_p.P1218L|PLEC_ENST00000354589.3_Missense_Mutation_p.P1218L|PLEC_ENST00000354958.2_Missense_Mutation_p.P1196L|PLEC_ENST00000356346.3_Missense_Mutation_p.P1204L|PLEC_ENST00000357649.2_Missense_Mutation_p.P1222L|PLEC_ENST00000436759.2_Missense_Mutation_p.P1245L|PLEC_ENST00000398774.2_Missense_Mutation_p.P1186L NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 1355 Globular 1. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 GGCGCCCAAGGGGTCTGCACT 0.716000 11 14 0 0 1 0 0 PNPLA5 150379 broad.mit.edu 37 22 44286942 44286942 + Splice_Site SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr22:44286942C>T ENST00000216177.4 - 2 558 c.426_splice c.e2+1 p.Q142_splice PNPLA5_ENST00000381198.2_Intron|PNPLA5_ENST00000597664.1_Splice_Site_p.Q142_splice|PNPLA5_ENST00000593866.1_Intron NM_138814.3 NP_620169.1 Q7Z6Z6 PLPL5_HUMAN patatin-like phospholipase domain containing 5 142 Patatin. lipid catabolic process hydrolase activity endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1) 16 all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222) CGCCCCACACCTGGATGAGCT 0.652000 8 13 0 0 1 0 0 GBP4 115361 broad.mit.edu 37 1 89657044 89657044 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:89657044C>T ENST00000355754.6 - 6 913 c.816G>A c.(814-816)ctG>ctA p.L272L NM_052941.4 NP_443173.2 Q96PP9 GBP4_HUMAN guanylate binding protein 4 272 cytoplasm GTP binding|GTPase activity central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1) 33 all cancers(265;0.00723)|Epithelial(280;0.0291) AATGCCTTTCCAGATTTTCTT 0.418000 18 53 0 0 1 0 0 GPAM 57678 broad.mit.edu 37 10 113924290 113924290 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:113924290G>A ENST00000348367.4 - 13 1497 c.1300C>T c.(1300-1302)Cct>Tct p.P434S GPAM_ENST00000423155.1_Missense_Mutation_p.P434S|GPAM_ENST00000369425.1_Missense_Mutation_p.P434S Q9HCL2 GPAT1_HUMAN glycerol-3-phosphate acyltransferase, mitochondrial 434 phospholipid biosynthetic process|triglyceride biosynthetic process integral to membrane|mitochondrial outer membrane glycerol-3-phosphate O-acyltransferase activity breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 Epithelial(162;0.0306)|all cancers(201;0.123) TACCTTGAAGGAAGTATAGCT 0.358000 17 21 0 0 1 0 0 MAP3K15 389840 broad.mit.edu 37 X 19443774 19443774 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:19443774C>T ENST00000338883.4 - 9 1313 c.1314G>A c.(1312-1314)ggG>ggA p.G438G MAP3K15_ENST00000469203.2_Silent_p.G270G|MAP3K15_ENST00000359173.3_5'UTR|MAP3K15_ENST00000518578.1_5'UTR NM_001001671.3 NP_001001671.3 Q6ZN16 M3K15_HUMAN mitogen-activated protein kinase kinase kinase 15 438 ATP binding|MAP kinase kinase kinase activity|metal ion binding NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 42 Hepatocellular(33;0.183) TCTCCAAGCTCCCTTTTCTTC 0.443000 14 9 0 0 1 0 0 LRRC49 54839 broad.mit.edu 37 15 71329518 71329518 + Splice_Site SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr15:71329518G>A ENST00000260382.5 + 15 1964 c.1703_splice c.e15-1 p.R568_splice LRRC49_ENST00000560158.2_Splice_Site_p.R256_splice|LRRC49_ENST00000560691.1_Splice_Site_p.R274_splice|LRRC49_ENST00000443425.2_Splice_Site_p.R524_splice|LRRC49_ENST00000560369.1_Splice_Site_p.R573_splice|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000544974.2_Splice_Site_p.R558_splice NM_001199017.1|NM_017691.3 NP_001185946.1|NP_060161.2 Q8IUZ0 LRC49_HUMAN leucine rich repeat containing 49 568 cytoplasm|microtubule breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3) 34 CTTTCTACAGGAAAAAGCAAT 0.308000 32 63 0 0 1 0 0 ZNF384 171017 broad.mit.edu 37 12 6776966 6776966 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:6776966G>A ENST00000396795.1 - 9 1962 c.1465C>T c.(1465-1467)Ccg>Tcg p.P489S ZNF384_ENST00000396801.3_Missense_Mutation_p.P550S|ZNF384_ENST00000361959.3_Missense_Mutation_p.P550S|ZNF384_ENST00000355772.4_Missense_Mutation_p.P434S|ZNF384_ENST00000396799.2_Missense_Mutation_p.P489S|RP4-761J14.8_ENST00000589924.1_RNA|ZNF384_ENST00000319770.3_Missense_Mutation_p.P473S Q8TF68 ZN384_HUMAN zinc finger protein 384 550 Ala-rich.|Gln-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding EWSR1/ZNF384(4) breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1) 18 GTCTTATACGGGGTCAGGTCA 0.622000 T """EWSR1, TAF15 """ ALL 83 125 0 0 1 0 0 CYLC1 1538 broad.mit.edu 37 X 83129261 83129261 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:83129261G>A ENST00000329312.4 + 4 1582 c.1545G>A c.(1543-1545)aaG>aaA p.K515K NM_021118.1 NP_066941.1 P35663 CYLC1_HUMAN cylicin, basic protein of sperm head cytoskeleton 1 515 cell differentiation|multicellular organismal development|spermatogenesis acrosomal matrix|cytoskeletal calyx structural molecule activity NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 58 ATGCAAGAAAGGACACAGAGT 0.353000 19 31 0 0 1 0 0 POTEC 388468 broad.mit.edu 37 18 14534953 14534953 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr18:14534953C>T ENST00000358970.5 - 4 863 c.864G>A c.(862-864)gtG>gtA p.V288V POTEC_ENST00000389891.4_5'UTR NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 288 NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 TTAAAAATTTCACCACTTGCT 0.299000 18 60 0 0 1 0 0 C2orf16 84226 broad.mit.edu 37 2 27802342 27802342 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:27802342G>A ENST00000408964.2 + 1 2954 c.2903G>A c.(2902-2904)gGt>gAt p.G968D NM_032266.3 NP_115642.3 Q68DN1 CB016_HUMAN chromosome 2 open reading frame 16 968 breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1) 47 Acute lymphoblastic leukemia(172;0.155) TTTTATCATGGTCATAAGAAA 0.418000 18 50 0 0 1 0 0 ATP2B3 492 broad.mit.edu 37 X 152830499 152830499 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:152830499G>A ENST00000370186.1 + 19 3564 c.3238G>A c.(3238-3240)Gag>Aag p.E1080K ATP2B3_ENST00000349466.2_Missense_Mutation_p.E1094K|ATP2B3_ENST00000370181.2_Missense_Mutation_p.E1080K|ATP2B3_ENST00000263519.4_Missense_Mutation_p.E1094K|ATP2B3_ENST00000359149.3_Missense_Mutation_p.E1094K|ATP2B3_ENST00000393842.1_Missense_Mutation_p.E1080K Q16720 AT2B3_HUMAN ATPase, Ca++ transporting, plasma membrane 3 1094 ATP biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding p.E1094Q(3)|p.E1080Q(1) NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3) 50 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CGACCATGCCGAGCGGGAGCT 0.672000 8 10 0 0 1 0 0 NPHS1 4868 broad.mit.edu 37 19 36338958 36338958 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:36338958G>A ENST00000378910.5 - 11 1424 c.1425C>T c.(1423-1425)tcC>tcT p.S475S NPHS1_ENST00000353632.6_Silent_p.S475S NM_004646.3 NP_004637.1 O60500 NPHN_HUMAN nephrosis 1, congenital, Finnish type (nephrin) 475 Ig-like C2-type 5. 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) ACCACATGAGGGAGGGCTCTG 0.622000 29 39 0 0 1 0 0 IGSF9B 22997 broad.mit.edu 37 11 133801414 133801414 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:133801414G>A ENST00000321016.8 - 10 1532 c.1302C>T c.(1300-1302)gcC>gcT p.A434A IGSF9B_ENST00000533871.2_Silent_p.A434A Q9UPX0 TUTLB_HUMAN immunoglobulin superfamily, member 9B 434 Ig-like 5. integral to membrane|plasma membrane breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 all_hematologic(175;0.127) all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221) GCTCCCGGCCGGCCTCCTGCC 0.657000 34 41 0 0 1 0 0 VWA1 64856 broad.mit.edu 37 1 1372443 1372443 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:1372443C>T ENST00000476993.1 + 2 288 c.210C>T c.(208-210)gcC>gcT p.A70A VWA1_ENST00000338660.5_Intron|VWA1_ENST00000404702.3_Intron NM_022834.4 NP_073745.2 Q6PCB0 VWA1_HUMAN von Willebrand factor A domain containing 1 70 VWFA. basement membrane NS(1)|breast(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 8 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) GCACCGGGGCCCTGCGTGCCA 0.672000 12 22 0 0 1 0 0 MBOAT2 129642 broad.mit.edu 37 2 9022664 9022664 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:9022664G>A ENST00000305997.3 - 6 681 c.483C>T c.(481-483)tcC>tcT p.S161S MBOAT2_ENST00000486484.1_5'UTR NM_138799.2 NP_620154.2 Q6ZWT7 MBOA2_HUMAN membrane bound O-acyltransferase domain containing 2 161 phospholipid biosynthetic process integral to membrane 1-acylglycerol-3-phosphate O-acyltransferase activity MBOAT2/PRKCE(2) endometrium(2)|kidney(1)|large_intestine(9)|lung(2)|skin(1) 15 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) CCCTCTGTGAGGAAGTCAGTT 0.483000 20 27 0 0 1 0 0 TNS3 64759 broad.mit.edu 37 7 47408308 47408308 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:47408308C>T ENST00000398879.1 - 17 2301 c.1935G>A c.(1933-1935)agG>agA p.R645R TNS3_ENST00000355730.3_Silent_p.R405R|TNS3_ENST00000311160.9_Silent_p.R645R Q68CZ2 TENS3_HUMAN tensin 3 645 focal adhesion protein binding NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 64 TGCCTACACCCCTCTGGACAG 0.642000 82 77 0 0 1 0 0 CBX1 10951 broad.mit.edu 37 17 46148855 46148855 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:46148855C>T ENST00000393408.3 - 5 980 c.500G>A c.(499-501)aGg>aAg p.R167K CBX1_ENST00000225603.4_Missense_Mutation_p.R167K NM_006807.4 NP_006798.1 P83916 CBX1_HUMAN chromobox homolog 1 167 Chromo 2; shadow subtype. nuclear heterochromatin|nucleoplasm|spindle chromatin binding|enzyme binding breast(1)|central_nervous_system(1)|kidney(1)|prostate(1) 4 CCACGTCAGCCTTTCCTCATA 0.498000 28 44 0 0 1 0 0 CFB 629 broad.mit.edu 37 6 31910823 31910823 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr6:31910823C>T ENST00000456570.1 + 7 903 c.848C>T c.(847-849)gCc>gTc p.A283V CFB_ENST00000477310.1_Intron|C2_ENST00000299367.5_Missense_Mutation_p.A436V|CFB_ENST00000556679.1_Missense_Mutation_p.A283V|C2_ENST00000469372.1_Missense_Mutation_p.A190V|C2_ENST00000442278.2_Missense_Mutation_p.A304V|C2_ENST00000452323.2_Missense_Mutation_p.A222V P00751 CFAB_HUMAN complement factor B 452 VWFA. complement activation, alternative pathway|proteolysis extracellular region|plasma membrane complement binding|serine-type endopeptidase activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1) 21 GAGAGGCATGCCTTCATTCTG 0.552000 89 73 0 0 1 0 0 DAPK3 1613 broad.mit.edu 37 19 3964740 3964740 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:3964740G>A ENST00000545797.2 - 3 555 c.312C>T c.(310-312)ttC>ttT p.F104F DAPK3_ENST00000301264.3_Silent_p.F104F O43293 DAPK3_HUMAN death-associated protein kinase 3 104 Protein kinase. apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade cytoplasm|PML body ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2) 21 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18) TCTCCGCCAGGAAGTCAAAGA 0.597000 38 19 0 0 1 0 0 IQUB 154865 broad.mit.edu 37 7 123101505 123101505 + Missense_Mutation SNP C C T rs60409072 byFrequency TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:123101505C>T ENST00000466202.1 - 11 2489 c.1913G>A c.(1912-1914)cGa>cAa p.R638Q IQUB_ENST00000324698.6_Missense_Mutation_p.R638Q Q8NA54 IQUB_HUMAN IQ motif and ubiquitin domain containing 638 breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1) 45 AAATGATTCTCGTTTTTGAGC 0.378000 36 45 0 0 1 0 0 SLITRK6 84189 broad.mit.edu 37 13 86368630 86368630 + Nonsense_Mutation SNP T T A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr13:86368630T>A ENST00000400286.2 - 2 2612 c.2014A>T c.(2014-2016)Aga>Tga p.R672* NM_032229.2 NP_115605.2 Q9H5Y7 SLIK6_HUMAN SLIT and NTRK-like family, member 6 672 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_neural(89;0.117)|Medulloblastoma(90;0.163) GBM - Glioblastoma multiforme(99;0.0456) GCAGAGGGTCTTTCAGTAGTG 0.438000 73 127 0 0 1 0 0 PTCHD1 139411 broad.mit.edu 37 X 23353008 23353008 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:23353008C>T ENST00000379361.4 + 1 876 c.16C>T c.(16-18)Ctg>Ttg p.L6L NM_173495.2 NP_775766.2 Q96NR3 PTHD1_HUMAN patched domain containing 1 6 cognition|smoothened signaling pathway integral to membrane|plasma membrane hedgehog receptor activity NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2) 42 GCGGCAGGTTCTGCACAGGGG 0.721000 4 7 0 0 1 0 0 C20orf195 79025 broad.mit.edu 37 20 62187585 62187585 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr20:62187585C>T ENST00000370098.3 + 2 661 c.569C>T c.(568-570)tCt>tTt p.S190F C20orf195_ENST00000370097.1_Missense_Mutation_p.S190F NM_024059.2 NP_076964.1 Q9BVV2 CT195_HUMAN chromosome 20 open reading frame 195 190 large_intestine(3)|lung(4) 7 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06) CGCCTGGTGTCTGATGTCAGT 0.642000 52 94 0 0 1 0 0 DHX8 1659 broad.mit.edu 37 17 41584468 41584468 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:41584468C>T ENST00000262415.3 + 13 1898 c.1826C>T c.(1825-1827)tCc>tTc p.S609F DHX8_ENST00000540306.1_Missense_Mutation_p.S609F NM_004941.1 NP_004932.1 Q14562 DHX8_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 8 609 Helicase ATP-binding. catalytic step 2 spliceosome ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 42 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.08) GGCTACACTTCCAGGGGCAAG 0.532000 51 64 0 0 1 0 0 ARHGEF10 9639 broad.mit.edu 37 8 1808226 1808226 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:1808226C>T ENST00000518288.1 + 5 592 c.429C>T c.(427-429)ctC>ctT p.L143L ARHGEF10_ENST00000398564.1_Silent_p.L143L|ARHGEF10_ENST00000349830.3_Silent_p.L119L|ARHGEF10_ENST00000262112.6_Silent_p.L143L|ARHGEF10_ENST00000520359.1_Silent_p.L119L|ARHGEF10_ENST00000398560.1_Silent_p.L143L O15013 ARHGA_HUMAN Rho guanine nucleotide exchange factor (GEF) 10 143 centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis centrosome|cytosol|soluble fraction kinesin binding|Rho guanyl-nucleotide exchange factor activity endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1) 35 Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834) COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718) ATGTGGGTCTCCATGTGCCCT 0.627000 28 36 0 0 1 0 0 ZSCAN21 7589 broad.mit.edu 37 7 99654656 99654656 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:99654656C>T ENST00000292450.4 + 2 191 c.27C>T c.(25-27)gcC>gcT p.A9A ZSCAN21_ENST00000456748.2_Silent_p.A9A|ZSCAN21_ENST00000543588.1_Silent_p.A9A|ZSCAN21_ENST00000477297.1_3'UTR NM_145914.2 NP_666019.1 Q9Y5A6 ZSC21_HUMAN zinc finger and SCAN domain containing 21 9 positive regulation of transcription, DNA-dependent|viral reproduction nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1) 21 Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439) STAD - Stomach adenocarcinoma(171;0.129) TAGGCATGGCCCCAGTTCTGG 0.527000 74 172 0 0 1 0 0 TSGA10 80705 broad.mit.edu 37 2 99681424 99681424 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:99681424G>A ENST00000393483.3 - 16 2226 c.1382C>T c.(1381-1383)tCc>tTc p.S461F TSGA10_ENST00000410001.1_Missense_Mutation_p.S461F|TSGA10_ENST00000355053.4_Missense_Mutation_p.S461F|TSGA10_ENST00000478090.1_5'UTR|TSGA10_ENST00000539964.1_Missense_Mutation_p.S461F NM_025244.2 NP_079520.1 Q9BZW7 TSG10_HUMAN testis specific, 10 461 spermatogenesis cytoplasm|nuclear membrane NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 34 TCTGTTGAGGGAATCTACTTT 0.358000 24 23 0 0 1 0 0 ARHGAP20 57569 broad.mit.edu 37 11 110454415 110454415 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:110454415G>A ENST00000260283.4 - 14 1746 c.1462C>T c.(1462-1464)Ctt>Ttt p.L488F ARHGAP20_ENST00000357139.3_Missense_Mutation_p.L462F|ARHGAP20_ENST00000529591.1_Missense_Mutation_p.L31F|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.L465F|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.L462F|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.L452F|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.L452F NM_020809.3 NP_065860.2 Q9P2F6 RHG20_HUMAN Rho GTPase activating protein 20 488 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 60 all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475) ACCCCAAAAAGATACCTTAGG 0.388000 14 18 0 0 1 0 0 MKLN1 4289 broad.mit.edu 37 7 131128280 131128280 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:131128280G>A ENST00000352689.6 + 11 1254 c.1214G>A c.(1213-1215)gGt>gAt p.G405D MKLN1_ENST00000421797.2_Missense_Mutation_p.G313D NM_013255.4 NP_037387.2 Q9UL63 MKLN1_HUMAN muskelin 1, intracellular mediator containing kelch motifs 405 signal transduction cytoplasm protein binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 28 Melanoma(18;0.162) TACACTTTTGGTGGTAGAATT 0.388000 32 72 0 0 1 0 0 SLC22A3 6581 broad.mit.edu 37 6 160828085 160828085 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr6:160828085C>T ENST00000392145.1 + 3 573 c.546C>T c.(544-546)atC>atT p.I182I SLC22A3_ENST00000275300.2_Silent_p.I182I O75751 S22A3_HUMAN solute carrier family 22 (organic cation transporter), member 3 182 integral to plasma membrane|membrane fraction protein binding|quaternary ammonium group transmembrane transporter activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 27 Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218) OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06) ATGGCAGGATCGTCATTTACT 0.418000 28 19 0 0 1 0 0 SLC25A43 203427 broad.mit.edu 37 X 118585997 118585997 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:118585997G>A ENST00000217909.7 + 4 1060 c.716G>A c.(715-717)aGt>aAt p.S239N SLC25A43_ENST00000488158.1_3'UTR|SLC25A43_ENST00000336249.7_Silent_p.Q181Q NM_145305.2 NP_660348.2 Q8WUT9 S2543_HUMAN solute carrier family 25, member 43 239 transmembrane transport integral to membrane|mitochondrial inner membrane binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1) 9 CTCCCACACAGTGGAGGAGTA 0.532000 49 96 0 0 1 0 0 ANKRD13D 338692 broad.mit.edu 37 11 67067492 67067492 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:67067492C>T ENST00000447274.2 + 10 1885 c.710C>T c.(709-711)aCc>aTc p.T237I ANKRD13D_ENST00000308440.6_Missense_Mutation_p.T237I|ANKRD13D_ENST00000514166.1_Missense_Mutation_p.T237I|ANKRD13D_ENST00000511455.2_Missense_Mutation_p.T324I Q6ZTN6 AN13D_HUMAN ankyrin repeat domain 13 family, member D 237 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1) 9 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) GCCAGCCCCACCAACCCCACA 0.667000 20 30 0 0 1 0 0 RAB1A 5861 broad.mit.edu 37 2 65315800 65315800 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:65315800G>A ENST00000409784.3 - 6 635 c.445C>T c.(445-447)Ccg>Tcg p.P149S RAB1A_ENST00000409892.1_Missense_Mutation_p.P85S|RAB1A_ENST00000494188.1_Intron|RAB1A_ENST00000356214.7_Missense_Mutation_p.P117S|RAB1A_ENST00000260638.8_Missense_Mutation_p.P73S|RAB1A_ENST00000409751.1_Missense_Mutation_p.P117S|RAB1A_ENST00000398529.3_Missense_Mutation_p.P73S NM_004161.4 NP_004152.1 P62820 RAB1A_HUMAN RAB1A, member RAS oncogene family 149 protein transport|small GTPase mediated signal transduction|vesicle-mediated transport endoplasmic reticulum|Golgi apparatus GTP binding|GTPase activity endometrium(1)|kidney(1)|lung(3)|prostate(1) 6 TCCAAAAACGGAATTCCAAGG 0.393000 6 6 0 0 1 0 0 CCM2L 140706 broad.mit.edu 37 20 30602763 30602763 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr20:30602763C>T ENST00000300415.8 + 2 100 c.87C>T c.(85-87)gcC>gcT p.A29A CCM2L_ENST00000262659.8_Silent_p.A29A cerebral cavernous malformation 2-like GCCGGGCAGCCTGTAGGAGCA 0.622000 63 96 0 0 1 0 0 ZNF687 57592 broad.mit.edu 37 1 151261020 151261020 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:151261020C>T ENST00000368879.2 + 3 2230 c.2132C>T c.(2131-2133)cCc>cTc p.P711L NM_020832.1 NP_065883.1 Q8N1G0 ZN687_HUMAN zinc finger protein 687 711 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|zinc ion binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2) 32 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) CCAACCTGCCCCATGATGCTC 0.567000 8 50 0 0 1 0 0 SLC27A4 10999 broad.mit.edu 37 9 131117375 131117375 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr9:131117375C>T ENST00000300456.3 + 10 1485 c.1368C>T c.(1366-1368)ccC>ccT p.P456P SLC27A4_ENST00000372870.1_Intron NM_005094.3 NP_005085.2 Q6P1M0 S27A4_HUMAN solute carrier family 27 (fatty acid transporter), member 4 456 long-chain fatty acid transport|transmembrane transport integral to membrane fatty acid transporter activity|nucleotide binding|protein binding autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2) 13 AGAAAGACCCCCTGCGCCGCT 0.627000 18 5 0 0 1 0 0 PNPLA7 375775 broad.mit.edu 37 9 140391670 140391670 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr9:140391670C>T ENST00000406427.1 - 18 2318 c.1982G>A c.(1981-1983)gGg>gAg p.G661E PNPLA7_ENST00000277531.4_Missense_Mutation_p.G636E|PNPLA7_ENST00000371457.1_Missense_Mutation_p.G242E NM_001098537.1 NP_001092007.1 Q6ZV29 PLPL7_HUMAN patatin-like phospholipase domain containing 7 636 lipid metabolic process endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane hydrolase activity breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 all_cancers(76;0.126) OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839) GCCGTACTCCCCGGCCAGGCG 0.667000 8 7 0 0 1 0 0 PLA2G1B 5319 broad.mit.edu 37 12 120763812 120763812 + Missense_Mutation SNP C C T rs143788130 TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:120763812C>T ENST00000308366.4 - 2 81 c.46G>A c.(46-48)Gac>Aac p.D16N PLA2G1B_ENST00000549767.1_5'UTR|PLA2G1B_ENST00000423423.3_Missense_Mutation_p.D16N NM_000928.2 NP_000919.1 P04054 PA21B_HUMAN phospholipase A2, group IB (pancreas) 16 D -> A (in dbSNP:rs5632). actin filament organization|activation of MAPK activity|activation of phospholipase A2 activity|arachidonic acid secretion|cellular response to insulin stimulus|glucose transport|interleukin-8 production|leukotriene biosynthetic process|multicellular organismal lipid catabolic process|neutrophil chemotaxis|neutrophil mediated immunity|phosphatidylcholine metabolic process|positive regulation of calcium ion transport into cytosol|positive regulation of DNA replication|positive regulation of immune response|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein secretion|positive regulation of transcription from RNA polymerase II promoter extracellular space bile acid binding|calcium ion binding|calcium-dependent phospholipase A2 activity|cell surface binding|receptor binding endometrium(1)|large_intestine(1)|lung(3)|skin(2) 7 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) ATGCCGCTGTCGGCGGCGGCC 0.617000 OREG0022189 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 70 173 0 0 1 0 0 ADAM29 11086 broad.mit.edu 37 4 175897606 175897606 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr4:175897606C>T ENST00000359240.3 + 5 1600 c.930C>T c.(928-930)caC>caT p.H310H ADAM29_ENST00000404450.4_Silent_p.H310H|ADAM29_ENST00000514159.1_Silent_p.H310H|ADAM29_ENST00000445694.1_Silent_p.H310H NM_001278125.1|NM_014269.4 NP_001265054.1|NP_055084.3 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 310 Peptidase M12B. proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2) 93 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) GTACACCACACCGTAGTTGTG 0.423000 34 85 0 0 1 0 0 CTTNBP2NL 55917 broad.mit.edu 37 1 112999861 112999861 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:112999861C>T ENST00000271277.6 + 6 1972 c.1747C>T c.(1747-1749)Cca>Tca p.P583S CTTNBP2NL_ENST00000607039.1_3'UTR|RP4-671G15.3_ENST00000508462.1_RNA NM_018704.2 NP_061174.1 Q9P2B4 CT2NL_HUMAN CTTNBP2 N-terminal like 583 actin cytoskeleton protein binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 29 all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TCCACCCATCCCACCCAAGAA 0.567000 43 32 0 0 1 0 0 PCDH9 5101 broad.mit.edu 37 13 67800937 67800937 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr13:67800937C>T ENST00000544246.1 - 2 2327 c.1636G>A c.(1636-1638)Gac>Aac p.D546N PCDH9_ENST00000377865.2_Missense_Mutation_p.D546N|PCDH9_ENST00000456367.1_Missense_Mutation_p.D546N|PCDH9_ENST00000377861.3_Missense_Mutation_p.D546N|PCDH9_ENST00000328454.5_Missense_Mutation_p.D546N NM_203487.2 NP_982354.1 Q9HC56 PCDH9_HUMAN protocadherin 9 546 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 103 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) GTCCCATTGTCCCTGGCAGTT 0.433000 38 64 0 0 1 0 0 FREM1 158326 broad.mit.edu 37 9 14868816 14868816 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr9:14868816C>T ENST00000380881.4 - 3 975 c.160G>A c.(160-162)Gag>Aag p.E54K FREM1_ENST00000422223.2_Missense_Mutation_p.E54K|FREM1_ENST00000380880.3_Missense_Mutation_p.E54K Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 54 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) GCATCTTTCTCTTTAGGGATG 0.522000 11 2 0 0 1 0 0 CSPG4 1464 broad.mit.edu 37 15 75981041 75981041 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr15:75981041G>A ENST00000308508.5 - 3 2457 c.2365C>T c.(2365-2367)Ctg>Ttg p.L789L NM_001897.4 NP_001888.2 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 789 Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).|Interaction with COL6A2 (By similarity). angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4) 48 AGTGGCTCCAGCCGCAGCATC 0.642000 26 34 0 0 1 0 0 FGD5 152273 broad.mit.edu 37 3 14963956 14963956 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:14963956C>T ENST00000285046.5 + 15 3818 c.3708C>T c.(3706-3708)ccC>ccT p.P1236P FGD5_ENST00000543601.1_Silent_p.P995P|FGD5_ENST00000476851.1_3'UTR|FGD5-AS1_ENST00000430166.1_RNA NM_152536.3 NP_689749.3 Q6ZNL6 FGD5_HUMAN FYVE, RhoGEF and PH domain containing 5 1236 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1) 54 GGGAGAGGCCCCCCACCCTGG 0.597000 2 0 0 0 1 0 0 ESPL1 9700 broad.mit.edu 37 12 53681818 53681818 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:53681818G>A ENST00000257934.4 + 19 4330 c.4239G>A c.(4237-4239)gaG>gaA p.E1413E ESPL1_ENST00000552462.1_Silent_p.E1413E NM_012291.4 NP_036423.4 Q14674 ESPL1_HUMAN extra spindle pole bodies homolog 1 (S. cerevisiae) 1413 apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis centrosome|nucleus cysteine-type peptidase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8) 70 GGCTGGCAGAGGAGCCTAAGA 0.607000 OREG0021863 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 24 32 0 0 1 0 0 CADPS 8618 broad.mit.edu 37 3 62467454 62467454 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:62467454G>A ENST00000383710.4 - 22 3466 c.3117C>T c.(3115-3117)atC>atT p.I1039I CADPS_ENST00000357948.3_Intron|CADPS_ENST00000283269.9_Intron NM_003716.3 NP_003707.2 Q9ULU8 CAPS1_HUMAN Ca++-dependent secretion activator 1039 Interaction with DRD2.|MHD1. exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|cytosol|synapse lipid binding|metal ion binding breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2) 92 Lung SC(41;0.0452) BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334) GCATTTGTGGGATGCCTAGAG 0.418000 45 73 0 0 1 0 0 FMN2 56776 broad.mit.edu 37 1 240371520 240371520 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:240371520C>T ENST00000319653.9 + 5 3638 c.3408C>T c.(3406-3408)ccC>ccT p.P1136P NM_020066.4 NP_064450.3 Q9NZ56 FMN2_HUMAN formin 2 1136 FH1.|Pro-rich. actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions actin binding NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 178 Ovarian(103;0.127) all_cancers(173;0.013) OV - Ovarian serous cystadenocarcinoma(106;0.0106) CCCCTCTTCCCGGAGCGGGCA 0.716000 4 2 0 0 1 0 0 PCDH15 65217 broad.mit.edu 37 10 55698611 55698611 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:55698611C>T ENST00000373965.2 - 26 3752 c.3358G>A c.(3358-3360)Gaa>Aaa p.E1120K PCDH15_ENST00000437009.1_Missense_Mutation_p.E1042K|PCDH15_ENST00000395438.1_Missense_Mutation_p.E1113K|PCDH15_ENST00000395432.2_Missense_Mutation_p.E1076K|PCDH15_ENST00000414778.1_Missense_Mutation_p.E1118K|PCDH15_ENST00000361849.3_Missense_Mutation_p.E1113K|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.E724K|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.E1091K|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.E1113K|PCDH15_ENST00000320301.6_Missense_Mutation_p.E1113K|PCDH15_ENST00000395445.1_Missense_Mutation_p.E1120K|PCDH15_ENST00000395442.1_Intron NM_001142771.1|NM_001142772.1 NP_001136243.1|NP_001136244.1 Q96QU1 PCD15_HUMAN protocadherin-related 15 1113 Cadherin 10. 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) AGGACCACTTCCAGGGAATCA 0.378000 HNSCC(58;0.16) 39 50 0 0 1 0 0 CUBN 8029 broad.mit.edu 37 10 16955870 16955870 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:16955870G>A ENST00000377833.4 - 48 7538 c.7473C>T c.(7471-7473)acC>acT p.T2491T NM_001081.3 NP_001072.2 O60494 CUBN_HUMAN cubilin (intrinsic factor-cobalamin receptor) 2491 CUB 18. 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) TAAACATTAGGGTGATCCGCC 0.512000 47 80 0 0 1 0 0 HKR1 284459 broad.mit.edu 37 19 37853873 37853873 + Silent SNP T T A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:37853873T>A ENST00000591471.1 + 9 1998 c.357T>A c.(355-357)cgT>cgA p.R119R HKR1_ENST00000591134.1_Intron|HKR1_ENST00000544914.1_Silent_p.R119R|HKR1_ENST00000541583.2_Silent_p.R331R|HKR1_ENST00000392153.3_Silent_p.R373R|HKR1_ENST00000589392.1_Silent_p.R374R|HKR1_ENST00000324411.4_Silent_p.R392R P10072 HKR1_HUMAN HKR1, GLI-Kruppel zinc finger family member 392 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 29 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) AATGTGGGCGTGGCTTTCGCC 0.527000 40 65 0 0 1 0 0 OR2T3 343173 broad.mit.edu 37 1 248636947 248636947 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:248636947C>T ENST00000359594.2 + 1 321 c.296C>T c.(295-297)cCg>cTg p.P99L NM_001005495.1 NP_001005495.1 Q8NH03 OR2T3_HUMAN olfactory receptor, family 2, subfamily T, member 3 99 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.P99L(1) breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3) 31 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) ACCATTTCCCCGTCAGGCTGT 0.547000 30 13 0 0 1 0 0 VAC14 55697 broad.mit.edu 37 16 70817011 70817011 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr16:70817011C>T ENST00000261776.5 - 7 996 c.736G>A c.(736-738)Gaa>Aaa p.E246K NM_018052.3 NP_060522.3 Q08AM6 VAC14_HUMAN Vac14 homolog (S. cerevisiae) 246 interspecies interaction between organisms endoplasmic reticulum|endosome membrane|microsome protein binding|receptor activity breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Ovarian(137;0.0699) TTCTTAATTTCTTTTAAGAAT 0.512000 42 73 0 0 1 0 0 THBS3 7059 broad.mit.edu 37 1 155172169 155172169 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:155172169G>A ENST00000368378.3 - 9 1001 c.981C>T c.(979-981)ttC>ttT p.F327F THBS3_ENST00000541990.1_5'UTR|RP11-263K19.4_ENST00000422665.1_RNA|THBS3_ENST00000457183.2_Silent_p.F207F|RP11-263K19.4_ENST00000430312.1_RNA|RP11-263K19.4_ENST00000453136.1_RNA|THBS3_ENST00000487250.1_5'UTR|THBS3_ENST00000428962.2_Silent_p.F177F NM_001252607.1|NM_007112.4 NP_001239536.1|NP_009043.1 P49746 TSP3_HUMAN thrombospondin 3 327 EGF-like 2; calcium-binding (Potential). cell-matrix adhesion extracellular region|perinuclear region of cytoplasm calcium ion binding|heparin binding|structural molecule activity breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3) 48 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) TGGAGCCCGGGAAACAGGGGT 0.607000 17 54 0 0 1 0 0 BZRAP1 9256 broad.mit.edu 37 17 56386506 56386506 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:56386506C>T ENST00000355701.3 - 22 4997 c.4127G>A c.(4126-4128)aGa>aAa p.R1376K BZRAP1_ENST00000268893.6_Missense_Mutation_p.R1316K|BZRAP1_ENST00000343736.4_Missense_Mutation_p.R1376K NM_001261835.1|NM_004758.3 NP_001248764.1|NP_004749.2 O95153 RIMB1_HUMAN benzodiazapine receptor (peripheral) associated protein 1 1376 mitochondrion benzodiazepine receptor binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) CTGGCCAGGTCTTCGGGGCTG 0.632000 67 68 0 0 1 0 0 OR2L2 26246 broad.mit.edu 37 1 248201602 248201602 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:248201602C>T ENST00000366479.2 + 1 129 c.33C>T c.(31-33)ttC>ttT p.F11F OR2L13_ENST00000366478.2_Intron NM_001004686.2 NP_001004686.1 Q8NH16 OR2L2_HUMAN olfactory receptor, family 2, subfamily L, member 2 11 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1) 42 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0278) CAACTGATTTCATCTTATTGG 0.358000 52 70 0 0 1 0 0 LRRTM1 347730 broad.mit.edu 37 2 80530926 80530926 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:80530926C>T ENST00000295057.3 - 2 675 c.19G>A c.(19-21)Ggt>Agt p.G7S CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000496558.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.G7S NM_178839.4 NP_849161.2 Q86UE6 LRRT1_HUMAN leucine rich repeat transmembrane neuronal 1 7 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 AGACAGAGACCGAGCAGCAGG 0.567000 HNSCC(69;0.2) 22 34 0 0 1 0 0 GPR179 440435 broad.mit.edu 37 17 36487059 36487059 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:36487059G>A ENST00000342292.4 - 11 2413 c.2393C>T c.(2392-2394)gCc>gTc p.A798V NM_001004334.2 NP_001004334.2 Q6PRD1 GP179_HUMAN G protein-coupled receptor 179 798 integral to membrane|plasma membrane G-protein coupled receptor activity breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) TGTTCGAGAGGCCTTCTTGGC 0.647000 4 7 0 0 1 0 0 PCDHGA5 56110 broad.mit.edu 37 5 140745111 140745111 + Nonsense_Mutation SNP T T G TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:140745111T>G ENST00000518069.1 + 1 1214 c.1214T>G c.(1213-1215)tTa>tGa p.L405* PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron NM_018918.2|NM_032054.1 NP_061741.1|NP_114443.1 endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3) 18 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TATCACCTATTAACAACTAGG 0.413000 29 57 0 0 1 0 0 PLXNA4 91584 broad.mit.edu 37 7 131887427 131887427 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:131887427C>T ENST00000359827.3 - 12 3526 c.2564G>A c.(2563-2565)tGc>tAc p.C855Y PLXNA4_ENST00000321063.4_Missense_Mutation_p.C855Y Q9HCM2 PLXA4_HUMAN plexin A4 855 PSI 3. integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 GGGGTTTGTGCACTTGCTTTT 0.657000 30 42 0 0 1 0 0 CACNA1D 776 broad.mit.edu 37 3 53785838 53785838 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:53785838C>T ENST00000288139.3 + 29 3757 c.3639C>T c.(3637-3639)ccC>ccT p.P1213P CACNA1D_ENST00000350061.5_Silent_p.P1193P|CACNA1D_ENST00000540742.1_Silent_p.P100P|CACNA1D_ENST00000422281.2_Silent_p.P1193P NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit 1193 axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) CCAAAAACCCCTACCAGTACA 0.498000 57 113 0 0 1 0 0 IQCH 64799 broad.mit.edu 37 15 67555493 67555493 + Nonsense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr15:67555493C>T ENST00000335894.4 + 3 274 c.208C>T c.(208-210)Cag>Tag p.Q70* IQCH_ENST00000512104.1_Nonsense_Mutation_p.Q70*|IQCH_ENST00000358767.3_5'UTR|IQCH_ENST00000546225.1_5'UTR NM_001031715.2 NP_001026885.1 Q86VS3 IQCH_HUMAN IQ motif containing H 70 NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1) 33 Colorectal(3;0.0856) TGTTGTAAACCAGAATGTATT 0.318000 18 23 0 0 1 0 0 EMILIN1 11117 broad.mit.edu 37 2 27306172 27306172 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:27306172G>A ENST00000380320.4 + 4 2232 c.1733G>A c.(1732-1734)gGg>gAg p.G578E NM_007046.3 NP_008977.1 Q9Y6C2 EMIL1_HUMAN elastin microfibril interfacer 1 578 cell adhesion collagen breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 26 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CAGGCCCATGGGGATGAGGGC 0.657000 24 26 0 0 1 0 0 CNTN6 27255 broad.mit.edu 37 3 1414031 1414031 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:1414031G>A ENST00000446702.2 + 13 2168 c.1541G>A c.(1540-1542)gGc>gAc p.G514D CNTN6_ENST00000539053.1_Missense_Mutation_p.G442D|CNTN6_ENST00000350110.2_Missense_Mutation_p.G514D Q9UQ52 CNTN6_HUMAN contactin 6 514 Ig-like C2-type 6. axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) GTTACAGTTGGCGAGAGTATA 0.388000 32 52 0 0 1 0 0 C2CD3 26005 broad.mit.edu 37 11 73785530 73785530 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:73785530G>A ENST00000334126.7 - 24 4945 c.4719C>T c.(4717-4719)tcC>tcT p.S1573S C2CD3_ENST00000313663.7_Silent_p.S1573S Q4AC94 C2CD3_HUMAN C2 calcium-dependent domain containing 3 1573 centrosome NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3) 64 Breast(11;4.16e-06) TGCAGTCCATGGAGTCCAGCT 0.542000 15 27 0 0 1 0 0 SLCO1B3 28234 broad.mit.edu 37 12 21011438 21011438 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:21011438G>A ENST00000381545.3 + 5 511 c.292G>A c.(292-294)Gga>Aga p.G98R SLCO1B3_ENST00000261196.2_Missense_Mutation_p.G98R|LST3_ENST00000540229.1_Missense_Mutation_p.G98R|SLCO1B3_ENST00000553473.1_Missense_Mutation_p.G98R|LST3_ENST00000381541.3_Missense_Mutation_p.G98R|SLCO1B3_ENST00000545880.1_3'UTR|SLCO1B7_ENST00000554957.1_Missense_Mutation_p.G98R NM_019844.3 NP_062818.1 Q9NPD5 SO1B3_HUMAN solute carrier organic anion transporter family, member 1B3 98 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|cytoplasm|integral to plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2) 63 Esophageal squamous(101;0.149) GAAGTTAATTGGAATTGGTTG 0.318000 30 38 0 0 1 0 0 CEP192 55125 broad.mit.edu 37 18 13067878 13067878 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr18:13067878G>A ENST00000506447.1 + 22 4617 c.4537G>A c.(4537-4539)Gga>Aga p.G1513R CEP192_ENST00000325971.8_Missense_Mutation_p.G917R|CEP192_ENST00000430049.2_Missense_Mutation_p.G1038R NM_032142.3 NP_115518.3 B7ZMF0 B7ZMF0_HUMAN centrosomal protein 192kDa 1108 NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 CTTGACTTATGGAGGCTGGAA 0.348000 39 42 0 0 1 0 0 RHOT2 89941 broad.mit.edu 37 16 722105 722105 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr16:722105C>T ENST00000315082.4 + 14 1233 c.1119C>T c.(1117-1119)gtC>gtT p.V373V NM_138769.2 NP_620124.1 Q8IXI1 MIRO2_HUMAN ras homolog family member T2 373 apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|integral to mitochondrial outer membrane|plasma membrane calcium ion binding|GTP binding|GTPase activity|protein binding endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1) 13 Hepatocellular(780;0.0218) ACCTGGACGTCCGGAGCTGCC 0.682000 52 88 0 0 1 0 0 LAMA2 3908 broad.mit.edu 37 6 129371227 129371227 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr6:129371227C>T ENST00000421865.2 + 2 326 c.277C>T c.(277-279)Cca>Tca p.P93S NM_000426.3|NM_001079823.1 NP_000417.2|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 93 Laminin N-terminal. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity p.P93T(1) 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) CAGCAGCAATCCAAACCGTAT 0.438000 22 17 0 0 1 0 0 ELK3 2004 broad.mit.edu 37 12 96640976 96640976 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:96640976G>A ENST00000228741.3 + 3 792 c.466G>A c.(466-468)Gac>Aac p.D156N ELK3_ENST00000552142.1_Intron NM_005230.2 NP_005221.2 P41970 ELK3_HUMAN ELK3, ETS-domain protein (SRF accessory protein 2) 156 negative regulation of transcription, DNA-dependent|signal transduction mitochondrion protein binding|purine-rich negative regulatory element binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2) 20 all_cancers(2;0.00173) GAACCCACCAGACGCCTTCAA 0.572000 25 7 0 0 1 0 0 GCN1L1 10985 broad.mit.edu 37 12 120602165 120602165 + Missense_Mutation SNP A A T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:120602165A>T ENST00000300648.6 - 18 1835 c.1823T>A c.(1822-1824)cTg>cAg p.L608Q NM_006836.1 NP_006827.1 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 1-like 1 (yeast) 608 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GACAGTCTTCAGCTCCTCCAA 0.592000 110 103 0 0 1 0 0 ATP2A2 488 broad.mit.edu 37 12 110780229 110780229 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:110780229C>T ENST00000395494.2 + 14 2776 c.2213C>T c.(2212-2214)tCg>tTg p.S738L ATP2A2_ENST00000539276.2_Missense_Mutation_p.S765L|ATP2A2_ENST00000308664.6_Missense_Mutation_p.S765L P16615 AT2A2_HUMAN ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 765 ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding p.S765L(1) NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 38 TACCTCATCTCGTCCAACGTC 0.522000 41 27 0 0 1 0 0 KIAA0922 23240 broad.mit.edu 37 4 154553968 154553968 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr4:154553968G>A ENST00000409663.3 + 32 4355 c.4303G>A c.(4303-4305)Gag>Aag p.E1435K KIAA0922_ENST00000440693.1_Missense_Mutation_p.E1352K|KIAA0922_ENST00000409959.3_Missense_Mutation_p.E1436K NM_015196.3 NP_056011.3 A2VDJ0 T131L_HUMAN KIAA0922 1435 integral to membrane breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 all_hematologic(180;0.093) Renal(120;0.118) TGTGATTCAGGAGTCGGCCCC 0.517000 23 38 0 0 1 0 0 DISP1 84976 broad.mit.edu 37 1 223179118 223179118 + Missense_Mutation SNP C C T rs35640001 TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:223179118C>T ENST00000284476.6 + 8 4543 c.4379C>T c.(4378-4380)cCa>cTa p.P1460L NM_032890.3 NP_116279.2 Q96F81 DISP1_HUMAN dispatched homolog 1 (Drosophila) 1460 diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway basolateral plasma membrane|integral to membrane hedgehog receptor activity|peptide transporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5) 69 GBM - Glioblastoma multiforme(131;0.102) CAGAATGAACCAAAAGTCCTA 0.438000 32 16 0 0 1 0 0 C19orf57 79173 broad.mit.edu 37 19 14000435 14000435 + Silent SNP G G A rs149789464 TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:14000435G>A ENST00000454313.1 - 6 1292 c.1234C>T c.(1234-1236)Cta>Tta p.L412L C19orf57_ENST00000586783.1_Silent_p.L412L|C19orf57_ENST00000591586.1_Intron|C19orf57_ENST00000346736.2_Silent_p.L412L Q0VDD7 CS057_HUMAN chromosome 19 open reading frame 57 412 multicellular organismal development protein binding breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(19;2e-21) GGGCCCACTAGGACATCGCCG 0.652000 19 39 0 0 1 0 0 SNX25 83891 broad.mit.edu 37 4 186253747 186253747 + Splice_Site SNP A A C TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr4:186253747A>C ENST00000504273.1 + 10 1551 c.e10-1 SNX25_ENST00000264694.8_Splice_Site|SNX25_ENST00000512853.1_Splice_Site Q9H3E2 SNX25_HUMAN sorting nexin 25 cell communication|protein transport endosome membrane phosphatidylinositol binding|signal transducer activity NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2) 40 all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243) all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228) CTCTCCCCCTAGGGCCCAAGA 0.418000 11 31 0 0 1 0 0 CD37 951 broad.mit.edu 37 19 49842699 49842699 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:49842699C>T ENST00000535669.2 + 7 911 c.797C>T c.(796-798)tCg>tTg p.S266L CTC-301O7.4_ENST00000358234.4_lincRNA|CD37_ENST00000323906.4_Intron|CD37_ENST00000426897.2_Intron|CD37_ENST00000598095.1_Missense_Mutation_p.S198L P11049 CD37_HUMAN CD37 molecule 0 integral to membrane breast(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1) 11 all_lung(116;2.81e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00088)|GBM - Glioblastoma multiforme(486;0.0443) CACCCGCGATCGGCCCTAAAT 0.652000 49 74 0 0 1 0 0 PHKA1 5255 broad.mit.edu 37 X 71932657 71932657 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:71932657C>T ENST00000373545.3 - 2 639 c.201G>A c.(199-201)cgG>cgA p.R67R PHKA1_ENST00000339490.3_Silent_p.R67R|PHKA1_ENST00000541944.1_Silent_p.R67R|PHKA1_ENST00000373539.3_Silent_p.R67R|PHKA1_ENST00000373542.4_Silent_p.R67R P46020 KPB1_HUMAN phosphorylase kinase, alpha 1 (muscle) 67 glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Renal(35;0.156) TATCCTCATCCCGGTCTGCAT 0.493000 18 24 0 0 1 0 0 ZNF268 10795 broad.mit.edu 37 12 133779348 133779348 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:133779348C>T ENST00000536435.2 + 6 1406 c.1076C>T c.(1075-1077)cCc>cTc p.P359L ZNF268_ENST00000541009.2_3'UTR|ZNF268_ENST00000542986.2_3'UTR|ZNF268_ENST00000536899.2_3'UTR|ZNF268_ENST00000228289.5_Missense_Mutation_p.P359L|ZNF268_ENST00000537565.1_Missense_Mutation_p.P198L NM_001165885.1|NM_003415.2 NP_001159357.1|NP_003406.1 Q14587 ZN268_HUMAN zinc finger protein 268 359 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1) 24 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_cancers(7;0.000215)|all_epithelial(31;0.096) OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05) GGTGAGAATCCCTATGAGTGC 0.403000 10 9 0 0 1 0 0 SH3RF3 344558 broad.mit.edu 37 2 109964286 109964286 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:109964286C>T ENST00000309415.6 + 2 730 c.730C>T c.(730-732)Cca>Tca p.P244S NM_001099289.1 NP_001092759.1 Q8TEJ3 SH3R3_HUMAN SH3 domain containing ring finger 3 244 SH3 1. zinc ion binding endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2) 18 GGGCTTCCTCCCAGCCAGCTA 0.567000 7 19 0 0 1 0 0 KRT12 3859 broad.mit.edu 37 17 39023387 39023387 + Missense_Mutation SNP A A T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:39023387A>T ENST00000251643.4 - 1 75 c.52T>A c.(52-54)Tcc>Acc p.S18T NM_000223.3 NP_000214.1 Q99456 K1C12_HUMAN keratin 12 18 Head. visual perception intermediate filament structural molecule activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2) 15 Breast(137;0.000301) AGCCGCCGGGACAGTCCGGGG 0.597000 15 38 0 0 1 0 0 FAM83A 84985 broad.mit.edu 37 8 124195487 124195487 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:124195487G>A ENST00000518448.1 + 2 2405 c.391G>A c.(391-393)Gaa>Aaa p.E131K FAM83A_ENST00000522648.1_Missense_Mutation_p.E131K|FAM83A_ENST00000318462.6_Missense_Mutation_p.E131K|FAM83A_ENST00000536633.1_Missense_Mutation_p.E131K|FAM83A_ENST00000546351.1_Missense_Mutation_p.E131K|FAM83A_ENST00000276699.6_Missense_Mutation_p.E131K Q86UY5 FA83A_HUMAN family with sequence similarity 83, member A 131 breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1) 17 Lung NSC(37;1.55e-09)|Ovarian(258;0.0205) STAD - Stomach adenocarcinoma(47;0.00527) CTACCTGAAGGAAAAATCCAG 0.612000 31 65 0 0 1 0 0 BRWD3 254065 broad.mit.edu 37 X 79991559 79991559 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:79991559C>T ENST00000373275.4 - 9 1058 c.842G>A c.(841-843)aGa>aAa p.R281K NM_153252.4 NP_694984.4 Q6RI45 BRWD3_HUMAN bromodomain and WD repeat domain containing 3 281 breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3) 87 AGTGAGGTATCTGTTTGTGCC 0.308000 16 25 0 0 1 0 0 CDH18 1016 broad.mit.edu 37 5 19473415 19473415 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:19473415G>A ENST00000507958.1 - 15 3283 c.2293C>T c.(2293-2295)Cac>Tac p.H765Y CDH18_ENST00000274170.4_Missense_Mutation_p.H765Y|CDH18_ENST00000510297.1_5'UTR|CDH18_ENST00000382275.1_Missense_Mutation_p.H765Y Q13634 CAD18_HUMAN cadherin 18, type 2 765 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1) 138 Lung NSC(1;0.00734)|all_lung(1;0.0197) CCAAGGTAGTGATAATCCTGG 0.448000 25 34 0 0 1 0 0 DYSF 8291 broad.mit.edu 37 2 71838717 71838717 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:71838717G>A ENST00000258104.3 + 38 4405 c.4128G>A c.(4126-4128)aaG>aaA p.K1376K DYSF_ENST00000429174.2_Silent_p.K1376K|DYSF_ENST00000410041.1_Silent_p.K1394K|DYSF_ENST00000394120.2_Silent_p.K1377K|DYSF_ENST00000409366.1_Silent_p.K1377K|DYSF_ENST00000409582.3_Silent_p.K1393K|DYSF_ENST00000409744.1_Silent_p.K1363K|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409762.1_Silent_p.K1393K|DYSF_ENST00000409651.1_Silent_p.K1408K|DYSF_ENST00000413539.2_Silent_p.K1407K|DYSF_ENST00000410020.3_Silent_p.K1394K NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 1376 cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 ACCTCCGGAAGAACCCCAACT 0.572000 10 30 0 0 1 0 0 RASGEF1A 221002 broad.mit.edu 37 10 43695197 43695197 + Missense_Mutation SNP T T A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:43695197T>A ENST00000395809.1 - 7 3282 c.776A>T c.(775-777)aAg>aTg p.K259M RASGEF1A_ENST00000395810.1_Missense_Mutation_p.K259M|RASGEF1A_ENST00000374459.1_Missense_Mutation_p.K267M Q8N9B8 RGF1A_HUMAN RasGEF domain family, member 1A 259 Ras-GEF. cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction intracellular Ras guanyl-nucleotide exchange factor activity cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2) 11 GCTGTAGGTCTTGGTCAGGTC 0.617000 18 28 0 0 1 0 0 SLITRK2 84631 broad.mit.edu 37 X 144905934 144905934 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:144905934C>T ENST00000370490.1 + 1 6246 c.1991C>T c.(1990-1992)tCc>tTc p.S664F SLITRK2_ENST00000428560.2_Missense_Mutation_p.S664F|SLITRK2_ENST00000413937.2_Missense_Mutation_p.S664F|SLITRK2_ENST00000447897.2_Missense_Mutation_p.S664F|SLITRK2_ENST00000434188.2_Missense_Mutation_p.S664F Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 664 integral to membrane NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 86 Acute lymphoblastic leukemia(192;6.56e-05) GACGTAAGCTCCTTTCAATTA 0.468000 62 73 0 0 1 0 0 NAV3 89795 broad.mit.edu 37 12 78400818 78400818 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:78400818C>T ENST00000397909.2 + 8 1673 c.1500C>T c.(1498-1500)tcC>tcT p.S500S NAV3_ENST00000536525.2_Silent_p.S500S|NAV3_ENST00000266692.7_Silent_p.S500S|NAV3_ENST00000228327.6_Silent_p.S500S Q8IVL0 NAV3_HUMAN neuron navigator 3 500 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 AAAAGACCTCCAAAATTGCAA 0.413000 HNSCC(70;0.22) 56 14 0 0 1 0 0 USP48 84196 broad.mit.edu 37 1 22028022 22028022 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:22028022G>A ENST00000308271.9 - 22 3344 c.2696C>T c.(2695-2697)cCa>cTa p.P899L USP48_ENST00000374732.3_Missense_Mutation_p.P437L|USP48_ENST00000529637.1_Missense_Mutation_p.P911L|USP48_ENST00000400301.1_Missense_Mutation_p.P899L NM_032236.5 NP_115612.4 Q86UV5 UBP48_HUMAN ubiquitin specific peptidase 48 899 ubiquitin-dependent protein catabolic process mitochondrion|nucleus cysteine-type peptidase activity|ubiquitin thiolesterase activity NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753) TTCTCCATCTGGTTTAGCTTC 0.428000 7 36 0 0 1 0 0 DNAH11 8701 broad.mit.edu 37 7 21640715 21640715 + Missense_Mutation SNP C C A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:21640715C>A ENST00000328843.6 + 17 3374 c.3343C>A c.(3343-3345)Cct>Act p.P1115T DNAH11_ENST00000409508.3_Missense_Mutation_p.P1115T Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 1115 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 GGACATGAAGCCTTTCAAAGT 0.363000 Kartagener syndrome 32 22 1.30998e-17 1.33394e-17 1 1 0 PCDHB11 56125 broad.mit.edu 37 5 140580862 140580862 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:140580862C>T ENST00000354757.3 + 1 1515 c.1515C>T c.(1513-1515)tcC>tcT p.S505S PCDHB11_ENST00000536699.1_Silent_p.S140S NM_018931.2 NP_061754.1 Q9Y5F2 PCDBB_HUMAN 505 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCCTGGTCTCCATCAACACAG 0.657000 75 133 0 0 1 0 0 SEC24A 10802 broad.mit.edu 37 5 134015380 134015380 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:134015380G>A ENST00000398844.2 + 8 1631 c.1343G>A c.(1342-1344)aGg>aAg p.R448K SEC24A_ENST00000322887.4_Missense_Mutation_p.R448K NM_021982.2 NP_068817.1 O95486 SC24A_HUMAN SEC24 family member A 448 Zinc finger-like. COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm zinc ion binding NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) CTTGATCAAAGGAGATGGAAG 0.388000 33 59 0 0 1 0 0 SLC4A7 9497 broad.mit.edu 37 3 27453223 27453223 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:27453223G>A ENST00000295736.5 - 12 1719 c.1649C>T c.(1648-1650)cCt>cTt p.P550L SLC4A7_ENST00000455077.1_Missense_Mutation_p.P431L|SLC4A7_ENST00000446700.1_Missense_Mutation_p.P542L|SLC4A7_ENST00000435667.2_Missense_Mutation_p.P435L|SLC4A7_ENST00000388777.4_Missense_Mutation_p.P100L|SLC4A7_ENST00000437179.1_Missense_Mutation_p.P431L|SLC4A7_ENST00000425128.2_Missense_Mutation_p.P542L|SLC4A7_ENST00000454389.1_Missense_Mutation_p.P559L|SLC4A7_ENST00000445684.1_Missense_Mutation_p.P546L|SLC4A7_ENST00000440156.1_Missense_Mutation_p.P546L|SLC4A7_ENST00000428386.1_Missense_Mutation_p.P426L NM_003615.4 NP_003606.3 Q9Y6M7 S4A7_HUMAN solute carrier family 4, sodium bicarbonate cotransporter, member 7 550 apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1) 38 GTGAAACACAGGAATCTTTCT 0.418000 12 22 0 0 1 0 0 ZCCHC5 203430 broad.mit.edu 37 X 77912704 77912704 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:77912704G>A ENST00000321110.1 - 2 1509 c.1214C>T c.(1213-1215)tCc>tTc p.S405F NM_152694.2 NP_689907.1 Q8N8U3 ZCHC5_HUMAN zinc finger, CCHC domain containing 5 405 nucleic acid binding|zinc ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1) 37 CTCTGCAGAGGAACTTTTCCC 0.522000 46 50 0 0 1 0 0 PEG3 5178 broad.mit.edu 37 19 57335918 57335918 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:57335918C>T ENST00000326441.9 - 4 469 c.106G>A c.(106-108)Gga>Aga p.G36R PEG3_ENST00000594706.1_Intron|PEG3_ENST00000593695.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.G36R|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000598410.1_Intron|ZIM2_ENST00000601070.1_Intron NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 36 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) GGACCTTCTCCTATGATGACA 0.478000 36 44 0 0 1 0 0 ITPR3 3710 broad.mit.edu 37 6 33658768 33658768 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr6:33658768C>T ENST00000374316.5 + 53 8167 c.7107C>T c.(7105-7107)atC>atT p.I2369I ITPR3_ENST00000605930.1_Silent_p.I2369I Q14573 ITPR3_HUMAN inositol 1,4,5-trisphosphate receptor, type 3 2369 activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 GCCGCTCCATCCTGCTGACAG 0.572000 4 61 0 0 1 0 0 PROS1 5627 broad.mit.edu 37 3 93615439 93615439 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:93615439G>A ENST00000394236.3 - 9 1262 c.946C>T c.(946-948)Cgt>Tgt p.R316C PROS1_ENST00000407433.1_Missense_Mutation_p.R185C NM_000313.3 NP_000304.2 P07225 PROS_HUMAN protein S (alpha) 316 Laminin G-like 1. leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen calcium ion binding|endopeptidase inhibitor activity p.R316C(1) endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1) 46 Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170) TCTGGCAAACGAAATTTTAAA 0.408000 32 57 0 0 1 0 0 PHKA2 5256 broad.mit.edu 37 X 18972465 18972465 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:18972465G>A ENST00000379942.4 - 2 809 c.144C>T c.(142-144)atC>atT p.I48I NM_000292.2 NP_000283.1 P46019 KPB2_HUMAN phosphorylase kinase, alpha 2 (liver) 48 glucose metabolic process|glycogen catabolic process cytosol|phosphorylase kinase complex|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 61 Hepatocellular(33;0.183) GGATACTGTAGATGTTATCCC 0.567000 55 53 0 0 1 0 0 PHLDB1 23187 broad.mit.edu 37 11 118498114 118498114 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:118498114C>T ENST00000361417.2 + 7 986 c.575C>T c.(574-576)tCt>tTt p.S192F PHLDB1_ENST00000356063.5_Missense_Mutation_p.S192F NM_015157.3 NP_055972.1 Q86UU1 PHLB1_HUMAN pleckstrin homology-like domain, family B, member 1 192 breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1) 46 all_hematologic(175;0.0839) Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;3.4e-05) CTGGTGAGCTCTATTGAGAAG 0.572000 33 44 0 0 1 0 0 FAM131B 9715 broad.mit.edu 37 7 143054043 143054043 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:143054043G>A ENST00000409408.1 - 6 2307 c.599C>T c.(598-600)tCg>tTg p.S200L FAM131B_ENST00000409346.1_Missense_Mutation_p.S200L|FAM131B_ENST00000409578.1_Missense_Mutation_p.S216L|FAM131B_ENST00000409222.3_Missense_Mutation_p.S200L|FAM131B_ENST00000443739.2_Missense_Mutation_p.S228L Q86XD5 F131B_HUMAN family with sequence similarity 131, member B 200 breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2) 24 Melanoma(164;0.205) GGCATCTGACGACCCCAGACA 0.552000 24 48 0 0 1 0 0 CADM2 253559 broad.mit.edu 37 3 85961560 85961560 + Missense_Mutation SNP G G C TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:85961560G>C ENST00000383699.3 + 6 1194 c.567G>C c.(565-567)aaG>aaC p.K189N CADM2_ENST00000405615.2_Missense_Mutation_p.K182N|CADM2_ENST00000407528.2_Missense_Mutation_p.K180N NM_001167675.1|NM_001256504.1|NM_001256505.1 NP_001161147.1|NP_001243433.1|NP_001243434.1 Q8N3J6 CADM2_HUMAN cell adhesion molecule 2 180 Ig-like C2-type 1. adherens junction organization|cell junction assembly integral to membrane|plasma membrane endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4) 38 Lung NSC(201;0.0148) LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157) CAAATCGCAAGACATTCACTG 0.398000 18 34 0 0 1 0 0 RBP3 5949 broad.mit.edu 37 10 48389614 48389614 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:48389614G>A ENST00000224600.4 - 1 1377 c.1264C>T c.(1264-1266)Cgg>Tgg p.R422W NM_002900.2 NP_002891.1 P10745 RET3_HUMAN retinol binding protein 3, interstitial 422 4 X approximate tandem repeats. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Vitamin A(DB00162) AGTGCTTGCCGGATAGCCTCG 0.632000 20 40 0 0 1 0 0 ADAM21P1 145241 broad.mit.edu 37 14 70714098 70714098 + RNA SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr14:70714098C>T ENST00000530196.1 - 0 420 NR_003951.1 GCACGCTCATCTGTGTAGGTG 0.502000 29 85 0 0 1 0 0 DENND3 22898 broad.mit.edu 37 8 142161893 142161893 + Missense_Mutation SNP T T A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:142161893T>A ENST00000519811.1 + 7 1101 c.1031T>A c.(1030-1032)tTc>tAc p.F344Y DENND3_ENST00000262585.2_Missense_Mutation_p.F264Y|DENND3_ENST00000424248.1_Missense_Mutation_p.F264Y A2RUS2 DEND3_HUMAN DENN/MADD domain containing 3 264 breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1) 55 all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.105) CCCACGTCCTTCCTGATGGGC 0.557000 43 74 0 0 1 0 0 DOCK6 57572 broad.mit.edu 37 19 11332856 11332856 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:11332856G>A ENST00000294618.7 - 27 3320 c.3309C>T c.(3307-3309)ttC>ttT p.F1103F DOCK6_ENST00000319867.7_Silent_p.F442F NM_020812.3 NP_065863.2 Q96HP0 DOCK6_HUMAN dedicator of cytokinesis 6 1103 blood coagulation cytosol GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1) 39 GCTGCTGCCGGAATGGTCCAC 0.622000 8 6 0 0 1 0 0 DNAL1 83544 broad.mit.edu 37 14 74138254 74138254 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr14:74138254G>A ENST00000553645.1 + 5 259 c.218G>A c.(217-219)aGg>aAg p.R73K DNAL1_ENST00000554871.1_Missense_Mutation_p.R34K|DNAL1_ENST00000540526.1_Missense_Mutation_p.R34K|DNAL1_ENST00000554339.1_Intron|DNAL1_ENST00000311089.3_5'UTR NM_031427.3 NP_113615.2 Q4LDG9 DNAL1_HUMAN dynein, axonemal, light chain 1 73 kidney(1)|lung(2) 3 BRCA - Breast invasive adenocarcinoma(234;0.00384)|KIRC - Kidney renal clear cell carcinoma(182;0.095) GAAAACTTGAGGATATTATCT 0.224000 3 6 0 0 1 0 0 DLST 1743 broad.mit.edu 37 14 75348709 75348709 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr14:75348709C>T ENST00000334220.4 + 1 114 c.53C>T c.(52-54)gCc>gTc p.A18V DLST_ENST00000334212.6_5'UTR|DLST_ENST00000555190.1_3'UTR NM_001933.4 NP_001924.2 P36957 ODO2_HUMAN dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex) 18 lysine catabolic process|tricarboxylic acid cycle mitochondrial matrix|nucleus dihydrolipoyllysine-residue succinyltransferase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(234;0.00698) TCGCTCTCCGCCTTCCAGAAG 0.731000 7 6 0 0 1 0 0 KRT83 3889 broad.mit.edu 37 12 52714879 52714879 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:52714879G>A ENST00000293670.3 - 1 303 c.241C>T c.(241-243)Cca>Tca p.P81S NM_002282.3 NP_002273.3 P78385 KRT83_HUMAN keratin 83 81 Head. epidermis development keratin filament structural molecule activity NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088) BRCA - Breast invasive adenocarcinoma(357;0.189) GTGATGCATGGGGGGCTGGGT 0.692000 30 61 0 0 1 0 0 KY 339855 broad.mit.edu 37 3 134322702 134322702 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:134322702G>A ENST00000508956.1 - 10 1699 c.1642C>T c.(1642-1644)Cct>Tct p.P548S KY_ENST00000423778.2_Missense_Mutation_p.P569S|KY_ENST00000503669.1_3'UTR Q8NBH2 KY_HUMAN kyphoscoliosis peptidase 0 cytoskeleton|Z disc peptidase activity central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2) 21 AAGCTCTCAGGGAACATGGGC 0.493000 11 36 0 0 1 0 0 MPHOSPH6 10200 broad.mit.edu 37 16 82182459 82182459 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr16:82182459G>A ENST00000258169.4 - 5 410 c.360C>T c.(358-360)acC>acT p.T120T MPHOSPH6_ENST00000563504.1_Silent_p.T91T NM_005792.2 NP_005783.2 Q99547 MPH6_HUMAN M-phase phosphoprotein 6 120 M phase of mitotic cell cycle|maturation of 5.8S rRNA cytoplasm|nucleolus protein binding|RNA binding endometrium(1)|large_intestine(1)|lung(3) 5 TCCCCACCAAGGTCTCATATC 0.378000 48 84 0 0 1 0 0 OR5M11 219487 broad.mit.edu 37 11 56309825 56309825 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:56309825G>A ENST00000528616.2 - 1 932 c.909C>T c.(907-909)gtC>gtT p.V303V NM_001005245.1 NP_001005245.1 Q96RB7 OR5MB_HUMAN olfactory receptor, family 5, subfamily M, member 11 303 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14) 18 TTCATCTCAGGACATTCTTCA 0.388000 11 17 0 0 1 0 0 BIN1 274 broad.mit.edu 37 2 127825806 127825806 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:127825806G>A ENST00000316724.5 - 7 956 c.545C>T c.(544-546)gCc>gTc p.A182V BIN1_ENST00000357970.3_Missense_Mutation_p.A182V|BIN1_ENST00000376113.2_Intron|BIN1_ENST00000352848.3_Intron|BIN1_ENST00000351659.3_Missense_Mutation_p.A182V|BIN1_ENST00000409400.1_Intron|BIN1_ENST00000259238.4_Intron|BIN1_ENST00000393040.3_Intron|BIN1_ENST00000348750.4_Intron|BIN1_ENST00000393041.3_Intron|BIN1_ENST00000346226.3_Intron NM_139343.2 NP_647593.1 O00499 BIN1_HUMAN bridging integrator 1 182 BAR. cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development actin cytoskeleton|nucleus NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3) 24 Colorectal(110;0.0831) BRCA - Breast invasive adenocarcinoma(221;0.073) CCACTGGGGGGCGGCTTTCTC 0.577000 OREG0014963 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 13 0 0 1 0 0 FAM208B 54906 broad.mit.edu 37 10 5772975 5772975 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:5772975C>T ENST00000328090.5 + 11 1638 c.1013C>T c.(1012-1014)cCa>cTa p.P338L RP11-336A10.2_ENST00000411512.2_RNA NM_017782.4 NP_060252.4 Q5VWN6 CJ018_HUMAN family with sequence similarity 208, member B 338 AGAGTTTTTCCATTGAGTCCA 0.453000 26 45 0 0 1 0 0 TTC25 83538 broad.mit.edu 37 17 40091560 40091560 + RNA SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:40091560G>A ENST00000591658.1 + 0 273 Q96NG3 TTC25_HUMAN tetratricopeptide repeat domain 25 cytoplasm protein binding endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1) 12 all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236) ATCCCTGAAGGATGCTGAGGC 0.527000 18 23 0 0 1 0 0 AKAP4 8852 broad.mit.edu 37 X 49959015 49959015 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:49959015C>T ENST00000376056.2 - 5 472 c.322G>A c.(322-324)Gat>Aat p.D108N AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376058.2_Missense_Mutation_p.D108N|AKAP4_ENST00000358526.2_Missense_Mutation_p.D117N|AKAP4_ENST00000376064.3_Missense_Mutation_p.D108N Q5JQC9 AKAP4_HUMAN A kinase (PRKA) anchor protein 4 117 cell projection organization|single fertilization|sperm motility cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum protein kinase A binding NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4) 41 Ovarian(276;0.236) TTCTGGAGATCACTGAGAAGC 0.453000 16 29 0 0 1 0 0 ADCY1 107 broad.mit.edu 37 7 45744122 45744122 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:45744122G>A ENST00000297323.7 + 17 2746 c.2724G>A c.(2722-2724)atG>atA p.M908I NM_021116.2 NP_066939.1 Q08828 ADCY1_HUMAN adenylate cyclase 1 (brain) 908 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 71 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640) CAAAGCTCATGGAAAAAGACT 0.498000 22 49 0 0 1 0 0 MLST8 64223 broad.mit.edu 37 16 2256574 2256574 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr16:2256574G>A ENST00000569417.1 + 4 612 c.258G>A c.(256-258)aaG>aaA p.K86K MLST8_ENST00000561651.1_3'UTR|MLST8_ENST00000564088.1_Silent_p.K86K|MLST8_ENST00000382450.4_Silent_p.K85K|MLST8_ENST00000397124.1_Silent_p.K86K|MLST8_ENST00000301725.7_Silent_p.K105K|MLST8_ENST00000301724.10_Silent_p.K86K|MLST8_ENST00000565250.1_Silent_p.K86K NM_022372.4 NP_071767.3 Q9BVC4 LST8_HUMAN MTOR associated protein, LST8 homolog (S. cerevisiae) 86 insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|T cell costimulation cytosol protein binding p.K86N(3) large_intestine(3)|lung(2)|skin(1) 6 GCGTCAACAAGAACATCGCGT 0.582000 76 116 0 0 1 0 0 OBFC1 79991 broad.mit.edu 37 10 105657400 105657400 + Missense_Mutation SNP C C G TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:105657400C>G ENST00000224950.3 - 7 826 c.659G>C c.(658-660)aGa>aCa p.R220T OBFC1_ENST00000369764.1_Missense_Mutation_p.R220T|OBFC1_ENST00000466828.1_5'UTR NM_024928.4 NP_079204.2 Q9H668 STN1_HUMAN oligonucleotide/oligosaccharide-binding fold containing 1 220 positive regulation of DNA replication|telomere maintenance via telomere lengthening protein binding|single-stranded telomeric DNA binding large_intestine(3)|lung(7)|ovary(1)|pancreas(2) 13 Colorectal(252;0.178) Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151) GCTCTGCACTCTGTTCTCCAT 0.517000 34 72 0 0 1 0 0 ZSCAN1 284312 broad.mit.edu 37 19 58565258 58565258 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:58565258G>A ENST00000282326.1 + 6 1313 c.1066G>A c.(1066-1068)Ggc>Agc p.G356S NM_182572.3 NP_872378.3 Q8NBB4 ZSCA1_HUMAN zinc finger and SCAN domain containing 1 356 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 48 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152) CCGGAGCAAGGGCCCCCGGGA 0.662000 25 18 0 0 1 0 0 COLQ 8292 broad.mit.edu 37 3 15531139 15531139 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:15531139G>A ENST00000383785.2 - 2 237 c.112C>T c.(112-114)Ccc>Tcc p.P38S COLQ_ENST00000383781.4_Missense_Mutation_p.P28S|COLQ_ENST00000603808.1_Missense_Mutation_p.P38S|COLQ_ENST00000383786.5_Missense_Mutation_p.P38S|COLQ_ENST00000383787.2_Missense_Mutation_p.P38S|COLQ_ENST00000435459.2_Missense_Mutation_p.P28S|COLQ_ENST00000383788.5_Missense_Mutation_p.P38S Q9Y215 COLQ_HUMAN collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase 38 acetylcholine catabolic process in synaptic cleft|asymmetric protein localization basal lamina|cell junction|collagen|extracellular space|synaptic cleft endometrium(2)|large_intestine(4)|lung(10)|skin(3) 19 TCCAGGCTGGGAAGGGCTGTT 0.612000 11 19 0 0 1 0 0 SPEN 23013 broad.mit.edu 37 1 16256527 16256527 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:16256527C>T ENST00000375759.3 + 11 3996 c.3792C>T c.(3790-3792)gtC>gtT p.V1264V NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 1264 interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) CTCCCAGTGTCCGACATGGTT 0.463000 19 72 0 0 1 0 0 KCNA4 3739 broad.mit.edu 37 11 30033107 30033107 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:30033107G>A ENST00000328224.6 - 2 2352 c.1119C>T c.(1117-1119)atC>atT p.I373I NM_002233.3 NP_002224.1 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 4 373 voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 CTGTTTCCACGATGAAGAAGG 0.468000 29 58 0 0 1 0 0 TMEM135 65084 broad.mit.edu 37 11 87032374 87032374 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:87032374G>A ENST00000340353.7 + 14 1512 c.1310G>A c.(1309-1311)tGa>tAa p.*437* TMEM135_ENST00000305494.5_Silent_p.*459*|TMEM135_ENST00000532959.1_Silent_p.*330*|TMEM135_ENST00000535167.1_Silent_p.*320* NM_001168724.1 NP_001162195.1 Q86UB9 TM135_HUMAN transmembrane protein 135 0 integral to membrane NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 17 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) GAGTTTTCCTGAAGATGACTG 0.403000 24 44 0 0 1 0 0 C6orf118 168090 broad.mit.edu 37 6 165715438 165715438 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr6:165715438C>T ENST00000543069.1 - 2 642 c.61G>A c.(61-63)Gac>Aac p.D21N C6orf118_ENST00000230301.8_Missense_Mutation_p.D125N Q5T5N4 CF118_HUMAN chromosome 6 open reading frame 118 125 breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 40 Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157) OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313) AGCGGGGTGTCCTGGGCCTCA 0.632000 43 26 0 0 1 0 0 CHRDL2 25884 broad.mit.edu 37 11 74414543 74414543 + Splice_Site SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:74414543G>A ENST00000376332.3 - 8 1249 c.751_splice c.e8-1 p.A251_splice CHRDL2_ENST00000263671.5_Splice_Site_p.A251_splice|CHRDL2_ENST00000534159.1_5'UTR NM_001278473.1 NP_001265402.1 Q6WN34 CRDL2_HUMAN chordin-like 2 251 VWFC 3. cartilage development|cell differentiation|ossification extracellular region|mitochondrion endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2) 15 Hepatocellular(1;0.098) CATGCACACAGGCTGAATAAG 0.657000 8 10 0 0 1 0 0 CD163 9332 broad.mit.edu 37 12 7633840 7633840 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:7633840C>T ENST00000359156.4 - 15 3462 c.3260G>A c.(3259-3261)gGa>gAa p.G1087E CD163_ENST00000432237.2_Missense_Mutation_p.G1087E|CD163_ENST00000396620.3_Missense_Mutation_p.G1120E|CD163_ENST00000541972.1_Missense_Mutation_p.G1075E NM_004244.5 NP_004235.4 Q86VB7 C163A_HUMAN CD163 molecule 1087 acute-phase response extracellular region|integral to plasma membrane protein binding|scavenger receptor activity breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4) 76 TAAGTTCTCTCCTCTTGAGGA 0.423000 36 52 0 0 1 0 0 CUX1 1523 broad.mit.edu 37 7 101845343 101845343 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:101845343C>T ENST00000360264.3 + 18 2819 c.2799C>T c.(2797-2799)ccC>ccT p.P933P CUX1_ENST00000560541.1_Intron|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000550008.2_Silent_p.P866P|CUX1_ENST00000292535.7_Silent_p.P922P|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000549414.2_Silent_p.P900P|CUX1_ENST00000546411.2_Silent_p.P820P|CUX1_ENST00000556210.1_Silent_p.P764P NM_001202543.1 NP_001189472.1 P39880 CUX1_HUMAN cut-like homeobox 1 922 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5) 70 TGTCCAAGCCCACCAAGCCCT 0.642000 40 91 0 0 1 0 0 TSG101 7251 broad.mit.edu 37 11 18505528 18505528 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:18505528C>T ENST00000536719.1 - 8 866 c.732G>A c.(730-732)gaG>gaA p.E244E TSG101_ENST00000357193.3_Silent_p.E139E|TSG101_ENST00000251968.3_Silent_p.E244E Q99816 TS101_HUMAN tumor susceptibility 101 244 cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane calcium-dependent protein binding|DNA binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 22 GATCCATTTCCTCCTTCATCC 0.522000 79 204 0 0 1 0 0 RREB1 6239 broad.mit.edu 37 6 7232113 7232113 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr6:7232113C>T ENST00000379938.2 + 10 4318 c.3781C>T c.(3781-3783)Cta>Tta p.L1261L RREB1_ENST00000334984.6_Silent_p.L1261L|RREB1_ENST00000349384.6_Silent_p.L1261L|RREB1_ENST00000379933.3_Silent_p.L1261L NM_001003699.3|NM_001003700.1 NP_001003699.1|NP_001003700.1 Q92766 RREB1_HUMAN ras responsive element binding protein 1 1261 multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter cytoplasm|nuclear speck DNA binding|zinc ion binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) GGCCAGCTCCCTACAGAGGCA 0.602000 16 12 0 0 1 0 0 POTEC 388468 broad.mit.edu 37 18 14511982 14511982 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr18:14511982C>T ENST00000358970.5 - 11 1543 c.1544G>A c.(1543-1545)aGt>aAt p.S515N NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 515 NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 TTTCTTATGACTAAGAGAAAG 0.323000 10 16 0 0 1 0 0 CNTN6 27255 broad.mit.edu 37 3 1339609 1339609 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:1339609G>A ENST00000446702.2 + 7 1322 c.695G>A c.(694-696)cGt>cAt p.R232H CNTN6_ENST00000539053.1_Missense_Mutation_p.R160H|CNTN6_ENST00000350110.2_Missense_Mutation_p.R232H Q9UQ52 CNTN6_HUMAN contactin 6 232 Ig-like C2-type 3. axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 90 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) ATTGAAGTGCGTTTTCCTGAA 0.358000 31 77 0 0 1 0 0 HEPH 9843 broad.mit.edu 37 X 65413359 65413359 + Missense_Mutation SNP T T A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:65413359T>A ENST00000519389.1 + 8 1589 c.1410T>A c.(1408-1410)ttT>ttA p.F470L HEPH_ENST00000374727.3_Missense_Mutation_p.F419L|HEPH_ENST00000343002.2_Missense_Mutation_p.F416L|HEPH_ENST00000336279.5_Missense_Mutation_p.F149L|HEPH_ENST00000419594.1_Missense_Mutation_p.F419L|HEPH_ENST00000441993.2_Missense_Mutation_p.F419L Q9BQS7 HEPH_HUMAN hephaestin 416 Plastocyanin-like 3. 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 CAGATAAGTTTTTCCAGAAGA 0.388000 20 32 0 0 1 0 0 SVEP1 79987 broad.mit.edu 37 9 113173407 113173407 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr9:113173407G>A ENST00000401783.2 - 37 6920 c.6584C>T c.(6583-6585)cCt>cTt p.P2195L SVEP1_ENST00000374469.1_Missense_Mutation_p.P2172L|SVEP1_ENST00000297826.5_Missense_Mutation_p.P121L NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 2195 Sushi 13. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 CGTCGGTATAGGACTACTCCA 0.502000 29 22 0 0 1 0 0 CADPS2 93664 broad.mit.edu 37 7 122047602 122047602 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:122047602C>T ENST00000334010.7 - 18 3153 c.2732G>A c.(2731-2733)cGa>cAa p.R911Q RP5-1101C3.1_ENST00000593910.1_RNA|RP5-1101C3.1_ENST00000591140.1_RNA|CADPS2_ENST00000412584.2_Missense_Mutation_p.R907Q|CADPS2_ENST00000449022.2_Missense_Mutation_p.R913Q|CADPS2_ENST00000313070.7_Missense_Mutation_p.R907Q NM_001167940.1 NP_001161412.1 Q86UW7 CAPS2_HUMAN Ca++-dependent secretion activator 2 913 Interaction with DRD2.|MHD1. exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|synapse lipid binding|metal ion binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2) 43 ACTGTCATTTCGGAGGAAATT 0.443000 8 10 0 0 1 0 0 TTC40 54777 broad.mit.edu 37 10 134648169 134648169 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:134648169G>A ENST00000368586.5 - 48 6955 c.6855C>T c.(6853-6855)ctC>ctT p.L2285L TTC40_ENST00000263170.5_Silent_p.L446L NM_001200049.2 NP_001186978.2 Q8IYW2 CJ092_HUMAN tetratricopeptide repeat domain 40 446 breast(1)|endometrium(5)|lung(19)|urinary_tract(3) 28 TGGCCTTGGAGAGGCTGAGCA 0.642000 11 11 0 0 1 0 0 MFHAS1 9258 broad.mit.edu 37 8 8750010 8750010 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:8750010C>T ENST00000276282.6 - 1 1145 c.559G>A c.(559-561)Gac>Aac p.D187N NM_004225.2 NP_004216.2 Q9Y4C4 MFHA1_HUMAN malignant fibrous histiocytoma amplified sequence 1 187 endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1) 21 Hepatocellular(245;0.217) COAD - Colon adenocarcinoma(149;0.124) TGATCCACGTCCAGGGTGCGC 0.687000 8 9 0 0 1 0 0 VPRBP 9730 broad.mit.edu 37 3 51440675 51440675 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:51440675G>A ENST00000335891.5 - 16 3029 c.3020C>T c.(3019-3021)cCc>cTc p.P1007L Q9Y4B6 VPRBP_HUMAN Vpr (HIV-1) binding protein 1456 interspecies interaction between organisms cytoplasm|nucleus protein binding breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875) CTCATCAGAGGGAGAGAAGTC 0.532000 14 16 0 0 1 0 0 C16orf70 80262 broad.mit.edu 37 16 67154023 67154023 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr16:67154023C>T ENST00000219139.3 + 2 261 c.73C>T c.(73-75)Ctg>Ttg p.L25L C16orf70_ENST00000569683.1_3'UTR|C16orf70_ENST00000569600.1_Silent_p.L25L NM_025187.3 NP_079463.2 Q9BSU1 CP070_HUMAN chromosome 16 open reading frame 70 25 cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1) 17 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579) AGGAATGCCTCTGGCTCAGGC 0.458000 45 61 0 0 1 0 0 WDR17 116966 broad.mit.edu 37 4 177089908 177089908 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr4:177089908G>A ENST00000393643.2 + 24 3373 c.3121G>A c.(3121-3123)Gaa>Aaa p.E1041K WDR17_ENST00000508596.1_Missense_Mutation_p.E1026K|WDR17_ENST00000280190.4_Missense_Mutation_p.E1065K|WDR17_ENST00000507824.2_Missense_Mutation_p.E1040K NM_170710.4 NP_733828.2 Q8IZU2 WDR17_HUMAN WD repeat domain 17 1065 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1) 92 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232) AGGATGTACTGAAGAGATAAA 0.338000 30 43 0 0 1 0 0 SDR9C7 121214 broad.mit.edu 37 12 57324258 57324258 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:57324258G>A ENST00000293502.1 - 2 455 c.312C>T c.(310-312)gcC>gcT p.A104A NM_148897.2 NP_683695.1 Q8NEX9 DR9C7_HUMAN short chain dehydrogenase/reductase family 9C, member 7 104 cytoplasm binding|oxidoreductase activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1) 7 TGTTCACCAGGGCCCAGAGGC 0.562000 17 26 0 0 1 0 0 VIPR2 7434 broad.mit.edu 37 7 158896490 158896490 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:158896490G>A ENST00000262178.2 - 4 500 c.315C>T c.(313-315)ttC>ttT p.F105F VIPR2_ENST00000402066.1_Silent_p.F246F NM_003382.4 NP_003373.2 P41587 VIPR2_HUMAN vasoactive intestinal peptide receptor 2 105 cell-cell signaling integral to plasma membrane central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1) 22 Ovarian(565;0.152) all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603) OV - Ovarian serous cystadenocarcinoma(82;0.00231) UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18) AGGCATCGACGAAATCTGGGA 0.498000 30 39 0 0 1 0 0 KIFC1 3833 broad.mit.edu 37 6 33371888 33371888 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr6:33371888C>T ENST00000428849.2 + 6 1188 c.738C>T c.(736-738)tcC>tcT p.S246S NM_002263.3 NP_002254.2 Q9BW19 KIFC1_HUMAN kinesin family member C1 246 blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle ATP binding|microtubule motor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1) 13 GACTGATGTCCCAACTAGAGG 0.567000 5 28 0 0 1 0 0 PHF12 57649 broad.mit.edu 37 17 27240232 27240232 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:27240232G>A ENST00000577226.1 - 9 1703 c.1357C>T c.(1357-1359)Cct>Tct p.P453S PHF12_ENST00000332830.4_Missense_Mutation_p.P453S|PHF12_ENST00000582655.1_5'UTR|PHF12_ENST00000268756.3_Missense_Mutation_p.P453S Q96QT6 PHF12_HUMAN PHD finger protein 12 453 Interaction with SIN3A. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 30 all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01) Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05) CAATGCGAAGGCATCTGCTTA 0.498000 53 76 0 0 1 0 0 MYO7B 4648 broad.mit.edu 37 2 128324382 128324382 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:128324382G>A ENST00000389524.4 + 5 503 c.450G>A c.(448-450)agG>agA p.R150R MYO7B_ENST00000428314.1_Silent_p.R150R|MYO7B_ENST00000409816.2_Silent_p.R150R Q6PIF6 MYO7B_HUMAN myosin VIIB 150 Myosin head-like. apical plasma membrane|myosin complex actin binding|ATP binding|motor activity breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 75 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) GGAACAAGAGGGACCAGTGCT 0.587000 11 16 0 0 1 0 0 AFAP1L2 84632 broad.mit.edu 37 10 116060388 116060388 + Missense_Mutation SNP C C T rs17852236 TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:116060388C>T ENST00000369271.3 - 14 1904 c.1604G>A c.(1603-1605)cGa>cAa p.R535Q AFAP1L2_ENST00000545353.1_Missense_Mutation_p.R588Q|AFAP1L2_ENST00000304129.4_Missense_Mutation_p.R535Q|AFAP1L2_ENST00000491814.1_5'UTR NM_001001936.1|NM_032550.2 NP_001001936.1|NP_115939.1 Q8N4X5 AF1L2_HUMAN actin filament associated protein 1-like 2 535 inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle cytoplasm protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2) 21 Colorectal(252;0.175)|Breast(234;0.231) Epithelial(162;0.0219)|all cancers(201;0.0561) CAGGTACACTCGGTCAGATTC 0.577000 23 36 0 0 1 0 0 KCNN2 3781 broad.mit.edu 37 5 113822857 113822857 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:113822857C>T ENST00000512097.3 + 7 2383 c.1365C>T c.(1363-1365)ttC>ttT p.F455F KCNN2_ENST00000264773.3_Silent_p.F455F|KCNN2_ENST00000503706.1_Silent_p.F107F|KCNN2_ENST00000507750.1_3'UTR Q9H2S1 KCNN2_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2 455 Calmodulin-binding (By similarity). integral to membrane calmodulin binding|small conductance calcium-activated potassium channel activity breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206) OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195) AACGAAAATTCCTGCAAGCTA 0.328000 23 43 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 90445960 90445960 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:90445960C>T ENST00000405460.2 + 88 18642 c.18546C>T c.(18544-18546)ttC>ttT p.F6182F GPR98_ENST00000425867.2_Silent_p.F1843F NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 6182 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) CAGCCTTTTTCACGCCCGGGA 0.507000 3 9 0 0 1 0 0 PASD1 139135 broad.mit.edu 37 X 150832782 150832782 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:150832782G>A ENST00000370357.4 + 11 1278 c.1033G>A c.(1033-1035)Gac>Aac p.D345N NM_173493.2 NP_775764.2 Q8IV76 PASD1_HUMAN PAS domain containing 1 345 nucleus signal transducer activity breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 48 Acute lymphoblastic leukemia(192;6.56e-05) GGATCCAGAGGACTCAGTGGA 0.592000 39 37 0 0 1 0 0 THSD7A 221981 broad.mit.edu 37 7 11501730 11501730 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:11501730G>A ENST00000423059.3 - 10 2660 c.2409C>T c.(2407-2409)atC>atT p.I803I AC004538.3_ENST00000445839.1_RNA NM_015204.2 NP_056019.1 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 803 TSP type-1 8. integral to membrane NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11) 113 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) GCAGCTGAATGATGACCCGAT 0.502000 HNSCC(18;0.044) 52 47 0 0 1 0 0 COLGALT2 23127 broad.mit.edu 37 1 183908159 183908159 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:183908159C>T ENST00000361927.4 - 12 1988 c.1617G>A c.(1615-1617)aaG>aaA p.K539K COLGALT2_ENST00000367521.1_Silent_p.K147K|COLGALT2_ENST00000546159.1_Intron|COLGALT2_ENST00000486375.1_Intron|COLGALT2_ENST00000367520.3_Silent_p.K276K NM_015101.2 NP_055916.1 collagen beta(1-O)galactosyltransferase 2 CATAATACTCCTTGTACTCGG 0.547000 18 18 0 0 1 0 0 CMTM5 116173 broad.mit.edu 37 14 23848307 23848307 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr14:23848307G>A ENST00000359320.3 + 3 791 c.347G>A c.(346-348)cGg>cAg p.R116Q CMTM5_ENST00000555731.1_Missense_Mutation_p.R78Q|CMTM5_ENST00000382809.2_Intron|CMTM5_ENST00000339180.4_Missense_Mutation_p.R183Q|CMTM5_ENST00000342473.4_Intron|CMTM5_ENST00000397227.3_Missense_Mutation_p.R65Q NM_138460.2 NP_612469.1 Q96DZ9 CKLF5_HUMAN CKLF-like MARVEL transmembrane domain containing 5 183 MARVEL. chemotaxis extracellular space|integral to membrane cytokine activity endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1) 8 all_cancers(95;2e-05) GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382) GTGACCTCCCGGGACGGAGCT 0.577000 8 20 0 0 1 0 0 ST3GAL5 8869 broad.mit.edu 37 2 86071528 86071528 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:86071528G>A ENST00000377332.3 - 6 1107 c.999C>T c.(997-999)ggC>ggT p.G333G ST3GAL5_ENST00000393808.3_Silent_p.G310G|ST3GAL5_ENST00000393805.1_Silent_p.G305G NM_003896.3 NP_003887.3 Q9UNP4 SIAT9_HUMAN ST3 beta-galactoside alpha-2,3-sialyltransferase 5 333 ganglioside biosynthetic process|protein glycosylation integral to Golgi membrane|integral to plasma membrane lactosylceramide alpha-2,3-sialyltransferase activity|neolactotetraosylceramide alpha-2,3-sialyltransferase activity cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 15 CCTTATCTCGGCCCCAGAACC 0.428000 23 29 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72822416 72822416 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr16:72822416G>A ENST00000268489.5 - 10 10431 c.9759C>T c.(9757-9759)ccC>ccT p.P3253P ZFHX3_ENST00000397992.5_Silent_p.P2339P NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 3253 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) GGACAGGCAGGGGTTCCCCTT 0.582000 67 128 0 0 1 0 0 RCAN2 10231 broad.mit.edu 37 6 46216488 46216488 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr6:46216488C>T ENST00000371374.1 - 3 562 c.371G>A c.(370-372)gGg>gAg p.G124E RCAN2_ENST00000306764.7_Missense_Mutation_p.G124E|RCAN2_ENST00000405162.1_Missense_Mutation_p.G124E|RCAN2_ENST00000330430.6_Missense_Mutation_p.G78E NM_001251974.1 NP_001238903.1 Q14206 RCAN2_HUMAN regulator of calcineurin 2 78 calcium-mediated signaling|central nervous system development nucleotide binding|protein phosphatase 2B binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 8 TAATTTTTTCCCTCTGAATTG 0.348000 3 23 0 0 1 0 0 IRF1 3659 broad.mit.edu 37 5 131822063 131822063 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:131822063G>A ENST00000245414.4 - 7 805 c.547C>T c.(547-549)Ctg>Ttg p.L183L IRF1_ENST00000405885.2_Silent_p.L183L NM_002198.2 NP_002189.1 P10914 IRF1_HUMAN interferon regulatory factor 1 183 blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway nucleoplasm cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1) 11 all_cancers(142;0.026)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) LUAD - Lung adenocarcinoma(142;0.247) CATGGCGACAGTGCTGGGGAA 0.572000 18 53 0 0 1 0 0 USP6NL 9712 broad.mit.edu 37 10 11505307 11505307 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:11505307C>T ENST00000379237.1 - 15 2014 c.1620G>A c.(1618-1620)gaG>gaA p.E540E USP6NL_ENST00000277575.5_Silent_p.E557E NM_014688.2 NP_055503.1 Q92738 US6NL_HUMAN USP6 N-terminal like 540 intracellular Rab GTPase activator activity endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1) 32 GCTTCCCGTCCTCAGCATCCA 0.662000 37 89 0 0 1 0 0 NARFL 64428 broad.mit.edu 37 16 780842 780842 + Splice_Site SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr16:780842C>T ENST00000540986.1 - 9 2322 c.e9+1 NARFL_ENST00000562862.1_Splice_Site|NARFL_ENST00000568545.1_Splice_Site|NARFL_ENST00000251588.2_Splice_Site Q9H6Q4 NARFL_HUMAN nuclear prelamin A recognition factor-like iron-sulfur cluster assembly|oxygen homeostasis|regulation of transcription, DNA-dependent|response to hypoxia 4 iron, 4 sulfur cluster binding|metal ion binding autonomic_ganglia(1)|large_intestine(1)|lung(7) 9 Hepatocellular(780;0.0218) GCAGGAGCTACCTGAGGGGCA 0.642000 29 42 0 0 1 0 0 EFCAB4B 84766 broad.mit.edu 37 12 3757680 3757680 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:3757680C>T ENST00000252322.1 - 11 1614 c.1146G>A c.(1144-1146)ctG>ctA p.L382L EFCAB4B_ENST00000440314.2_Intron|EFCAB4B_ENST00000444507.1_Intron NM_032680.3 NP_116069.1 Q9BSW2 EFC4B_HUMAN EF-hand calcium binding domain 4B 382 activation of store-operated calcium channel activity|store-operated calcium entry cytoplasm calcium ion binding|protein binding breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1) 24 OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264) GAGGTGCTCTCAGCACAGGCC 0.597000 16 41 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179414056 179414056 + Nonsense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:179414056C>T ENST00000589042.1 - 339 92521 c.92297G>A c.(92296-92298)tGg>tAg p.W30766* TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.W28198*|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.W29125*|TTN-AS1_ENST00000590932.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.W21826*|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.W21893*|TTN_ENST00000460472.2_Nonsense_Mutation_p.W21701*|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 29125 Fibronectin type-III 124. 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) CACTTTTACCCATCTTGTGCT 0.418000 19 56 0 0 1 0 0 PCDHB16 57717 broad.mit.edu 37 5 140564270 140564270 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:140564270G>A ENST00000361016.2 + 1 3291 c.2136G>A c.(2134-2136)cgG>cgA p.R712R NM_020957.1 NP_066008.1 Q9NRJ7 PCDBG_HUMAN 712 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1) 69 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGGCGGTGCGGCTGTGCAGGA 0.677000 85 123 0 0 1 0 0 IFIT5 24138 broad.mit.edu 37 10 91178121 91178121 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:91178121C>T ENST00000371795.4 + 2 1378 c.1165C>T c.(1165-1167)Cac>Tac p.H389Y IFIT5_ENST00000416601.1_Missense_Mutation_p.H341Y NM_012420.2 NP_036552.1 Q13325 IFIT5_HUMAN interferon-induced protein with tetratricopeptide repeats 5 389 binding endometrium(1)|large_intestine(4)|lung(4) 9 TCAGGAATTTCACCGTAAATC 0.428000 12 27 0 0 1 0 0 SEMA3D 223117 broad.mit.edu 37 7 84666252 84666252 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:84666252G>A ENST00000284136.6 - 10 1187 c.1144C>T c.(1144-1146)Cgt>Tgt p.R382C SEMA3D_ENST00000484038.1_5'UTR NM_152754.2 NP_689967.2 O95025 SEM3D_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D 382 Sema. cell differentiation|nervous system development extracellular region|membrane receptor activity NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2) 73 TGCACCCAACGATGGTCTGCA 0.398000 35 60 0 0 1 0 0 ZNF266 10781 broad.mit.edu 37 19 9525075 9525075 + Nonsense_Mutation SNP T T A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:9525075T>A ENST00000592904.1 - 5 2602 c.526A>T c.(526-528)Aga>Tga p.R176* ZNF266_ENST00000592292.1_Nonsense_Mutation_p.R176*|ZNF266_ENST00000590306.1_Nonsense_Mutation_p.R176*|ZNF266_ENST00000588933.1_Nonsense_Mutation_p.R176*|ZNF266_ENST00000588221.1_Nonsense_Mutation_p.R176*|ZNF266_ENST00000361451.2_Nonsense_Mutation_p.R176*|ZNF266_ENST00000361151.1_Nonsense_Mutation_p.R176* Q14584 ZN266_HUMAN zinc finger protein 266 176 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1) 28 TTGTGAGTTCTTAAATGTCCC 0.438000 35 11 0 0 1 0 0 ESR2 2100 broad.mit.edu 37 14 64727453 64727453 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr14:64727453C>T ENST00000557772.1 - 4 665 c.666G>A c.(664-666)gaG>gaA p.E222E ESR2_ENST00000341099.4_Silent_p.E222E|ESR2_ENST00000353772.3_Silent_p.E222E|ESR2_ENST00000553796.1_Silent_p.E222E|ESR2_ENST00000555278.1_Silent_p.E222E|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000554572.1_Silent_p.E222E|ESR2_ENST00000357782.2_Silent_p.E222E|ESR2_ENST00000358599.5_Silent_p.E222E|ESR2_ENST00000542956.1_Silent_p.E222E|ESR2_ENST00000267525.6_Silent_p.E222E NM_001214903.1 NP_001201832.1 Q92731 ESR2_HUMAN estrogen receptor 2 (ER beta) 222 Steroid-binding. cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor mitochondrion|nucleoplasm enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1) 23 all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437) Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108) ACCCACATCTCTCTCTCCGGG 0.572000 21 30 0 0 1 0 0 TAOK2 9344 broad.mit.edu 37 16 29999288 29999288 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr16:29999288C>T ENST00000308893.4 + 16 4738 c.3695C>T c.(3694-3696)cCc>cTc p.P1232L TAOK2_ENST00000416441.2_Missense_Mutation_p.P1059L|TAOK2_ENST00000543033.1_Missense_Mutation_p.P1119L|TAOK2_ENST00000279394.3_Intron NM_001252043.1|NM_016151.3 NP_001238972.1|NP_057235.2 Q9UL54 TAOK2_HUMAN TAO kinase 2 1232 actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1) 22 CGGGCCCTGCCCCCCTGGAGG 0.657000 8 9 0 0 1 0 0 ZC3HC1 51530 broad.mit.edu 37 7 129691188 129691188 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:129691188C>T ENST00000358303.4 - 1 103 c.19G>A c.(19-21)Gga>Aga p.G7R ZC3HC1_ENST00000311873.5_5'UTR|ZC3HC1_ENST00000360708.5_Missense_Mutation_p.G7R|ZC3HC1_ENST00000481503.1_Missense_Mutation_p.G7R NM_016478.3 NP_057562.3 Q86WB0 NIPA_HUMAN zinc finger, C3HC-type containing 1 7 cell division|mitosis nucleus protein kinase binding|zinc ion binding endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1) 22 Melanoma(18;0.0435) AACGCTTGTCCCTCACAGGGC 0.577000 24 61 0 0 1 0 0 CLIP3 25999 broad.mit.edu 37 19 36509916 36509916 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:36509916G>A ENST00000360535.4 - 9 1294 c.1067C>T c.(1066-1068)tCc>tTc p.S356F AC002116.7_ENST00000586962.1_RNA|CLIP3_ENST00000593074.1_Missense_Mutation_p.S356F NM_015526.2 NP_056341.1 Q96DZ5 CLIP3_HUMAN CAP-GLY domain containing linker protein 3 356 CAP-Gly 1. chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane ganglioside binding|microtubule binding cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 23 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) CTTGGACACGGAGGCAAAGAG 0.627000 33 54 0 0 1 0 0 TNXB 7148 broad.mit.edu 37 6 32017095 32017095 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr6:32017095G>A ENST00000375244.3 - 28 9910 c.9709C>T c.(9709-9711)Ctc>Ttc p.L3237F TNXB_ENST00000375247.2_Missense_Mutation_p.L3235F P22105 TENX_HUMAN tenascin XB 3282 Fibronectin type-III 24. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 CCCTCGTGGAGGCCGTACAGA 0.697000 18 10 0 0 1 0 0 TOPBP1 11073 broad.mit.edu 37 3 133347419 133347419 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:133347419C>T ENST00000260810.5 - 15 2810 c.2679G>A c.(2677-2679)gaG>gaA p.E893E NM_007027.3 NP_008958.2 Q92547 TOPB1_HUMAN topoisomerase (DNA) II binding protein 1 893 DNA repair|response to ionizing radiation microtubule organizing center|PML body|spindle pole DNA binding|protein C-terminus binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 40 CTGACTGGGCCTCTTTCAGTT 0.388000 Other conserved DNA damage response genes 5 8 0 0 1 0 0 ZNF648 127665 broad.mit.edu 37 1 182026190 182026190 + Missense_Mutation SNP G G C TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:182026190G>C ENST00000339948.3 - 2 1163 c.956C>G c.(955-957)tCc>tGc p.S319C NM_001009992.1 NP_001009992.1 Q5T619 ZN648_HUMAN zinc finger protein 648 319 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 40 GTGGTCGGAGGACCAGGTGTA 0.657000 5 25 0 0 1 0 0 CIITA 4261 broad.mit.edu 37 16 11001378 11001378 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr16:11001378G>A ENST00000324288.8 + 11 2162 c.2029G>A c.(2029-2031)Gag>Aag p.E677K CIITA_ENST00000537380.1_Intron|CIITA_ENST00000381835.5_Intron NM_000246.3 NP_000237.2 P33076 C2TA_HUMAN class II, major histocompatibility complex, transactivator 677 NACHT. interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent nucleus activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2) 12 TACCCTACAGGAGGACCAGTT 0.687000 T """FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6""" """PMBL, Hodgkin Lymphona, """ 21 35 0 0 1 0 0 ITIH4 3700 broad.mit.edu 37 3 52858009 52858009 + Missense_Mutation SNP G G T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:52858009G>T ENST00000266041.4 - 10 1279 c.1183C>A c.(1183-1185)Ccc>Acc p.P395T ITIH4-AS1_ENST00000478366.1_RNA|ITIH4_ENST00000406595.1_Missense_Mutation_p.P395T|ITIH4_ENST00000434759.3_Missense_Mutation_p.P307T|ITIH4_ENST00000346281.5_Missense_Mutation_p.P395T|ITIH4_ENST00000485816.1_Missense_Mutation_p.P395T NM_002218.4 NP_002209.2 Q14624 ITIH4_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 4 395 VWFA. acute-phase response|hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 30 BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496) ATGCTCCTGGGGTTAGTCTCC 0.542000 18 26 3.51602e-12 3.56078e-12 1 1 0 NBAS 51594 broad.mit.edu 37 2 15519940 15519940 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:15519940G>A ENST00000281513.5 - 30 3401 c.3376C>T c.(3376-3378)Ctt>Ttt p.L1126F NBAS_ENST00000441750.1_Missense_Mutation_p.L1006F NM_015909.3 NP_056993.2 A2RRP1 NBAS_HUMAN neuroblastoma amplified sequence 1126 NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3) 112 GAGCACAGAAGGCTTTCTGTA 0.423000 25 51 0 0 1 0 0 FRG1BP 284802 broad.mit.edu 37 20 29628278 29628278 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr20:29628278G>A ENST00000278882.3 + 6 660 c.280G>A c.(280-282)Gca>Aca p.A94T FRG1B_ENST00000439954.2_Missense_Mutation_p.A99T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A94T endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 ATGCAATGAAGCAGGGGACAT 0.373000 7 137 0 0 1 0 0 LRP1 4035 broad.mit.edu 37 12 57606241 57606241 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:57606241G>A ENST00000243077.3 + 89 14004 c.13538G>A c.(13537-13539)gGg>gAg p.G4513E NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 4513 Interaction with MAFB (By similarity). aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) CTCTACATGGGGGGCCATGGC 0.647000 18 41 0 0 1 0 0 TCL6 27004 broad.mit.edu 37 14 96134469 96134469 + RNA SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr14:96134469G>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) GCAGATCACGGGAATTACAAG 0.413000 T TRA@ T-ALL 28 52 0 0 1 0 0 CLSTN3 9746 broad.mit.edu 37 12 7286260 7286260 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:7286260C>T ENST00000537408.1 + 2 853 c.315C>T c.(313-315)gcC>gcT p.A105A CLSTN3_ENST00000266546.6_Silent_p.A93A Q9BQT9 CSTN3_HUMAN calsyntenin 3 93 Cadherin 1. homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1) 33 TGATCCGGGCCAAGGAGCCTG 0.632000 25 44 0 0 1 0 0 ISLR 3671 broad.mit.edu 37 15 74467469 74467469 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr15:74467469C>T ENST00000249842.3 + 2 627 c.270C>T c.(268-270)gcC>gcT p.A90A RP11-665J16.1_ENST00000561647.1_RNA|ISLR_ENST00000395118.1_Silent_p.A90A NM_005545.3 NP_005536.1 O14498 ISLR_HUMAN immunoglobulin superfamily containing leucine-rich repeat 90 cell adhesion extracellular region central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1) 20 GCACGGTGGCCGCCGGAGCCC 0.642000 20 35 0 0 1 0 0 FERD3L 222894 broad.mit.edu 37 7 19184769 19184769 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:19184769C>T ENST00000275461.3 - 1 275 c.217G>A c.(217-219)Gac>Aac p.D73N AC003986.5_ENST00000452700.1_RNA NM_152898.2 NP_690862.1 Q96RJ6 FER3L_HUMAN Fer3-like bHLH transcription factor 73 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 35 tcttctccgtccccctggtcc 0.647000 9 21 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179584295 179584295 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:179584295G>A ENST00000589042.1 - 82 24148 c.23924C>T c.(23923-23925)tCc>tTc p.S7975F TTN_ENST00000342992.6_Missense_Mutation_p.S6731F|TTN_ENST00000591111.1_Missense_Mutation_p.S7658F|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 7658 Ig-like 62. 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) AACATGGACGGATACAGTGCA 0.388000 62 78 0 0 1 0 0 SERPINE1 5054 broad.mit.edu 37 7 100775223 100775223 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:100775223C>T ENST00000223095.4 + 4 730 c.573C>T c.(571-573)gcC>gcT p.A191A SERPINE1_ENST00000445463.2_Silent_p.A176A NM_000602.4 NP_000593.1 P05121 PAI1_HUMAN serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 191 angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen protease binding|serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3) 20 Lung NSC(181;0.136)|all_lung(186;0.182) Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013) TGGTGAATGCCCTCTACTTCA 0.557000 74 162 0 0 1 0 0 CABP5 56344 broad.mit.edu 37 19 48543904 48543904 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:48543904C>T ENST00000293255.2 - 3 326 c.196G>A c.(196-198)Gag>Aag p.E66K NM_019855.4 NP_062829.1 Q9NP86 CABP5_HUMAN calcium binding protein 5 66 EF-hand 2. signal transduction cytoplasm calcium ion binding endometrium(1)|large_intestine(3)|lung(3)|prostate(2)|skin(2) 11 all_cancers(25;1.86e-08)|all_lung(116;1.14e-06)|all_epithelial(76;1.16e-06)|Lung NSC(112;2.54e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203) OV - Ovarian serous cystadenocarcinoma(262;4.09e-05)|all cancers(93;0.000322)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.058) AGTTCCATCTCCGTGGGCATG 0.542000 29 38 0 0 1 0 0 RAB3IL1 5866 broad.mit.edu 37 11 61672226 61672226 + Splice_Site SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:61672226C>T ENST00000394836.2 - 6 943 c.786_splice c.e6+1 p.E262_splice RAB3IL1_ENST00000301773.5_Splice_Site_p.E236_splice NM_013401.2 NP_037533.2 Q8TBN0 R3GEF_HUMAN RAB3A interacting protein (rabin3)-like 1 262 protein binding central_nervous_system(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(4)|skin(3)|urinary_tract(1) 14 CATGCCTCACCTCCTGCATTG 0.682000 5 4 0 0 1 0 0 RAB9BP1 9366 broad.mit.edu 37 5 104435316 104435316 + RNA SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:104435316G>A ENST00000522464.1 - 0 68 RP11-6N13.1_ENST00000503650.1_lincRNA TTTAAGTAAAGATTTGGAAGT 0.388000 13 57 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 90024571 90024571 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:90024571G>A ENST00000405460.2 + 49 10343 c.10247G>A c.(10246-10248)gGa>gAa p.G3416E NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 3416 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) TTCAACAAGGGAGGCTCTGTG 0.488000 45 74 0 0 1 0 0 KRT74 121391 broad.mit.edu 37 12 52961457 52961457 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:52961457G>A ENST00000549343.1 - 9 1456 c.1418C>T c.(1417-1419)tCc>tTc p.S473F KRT74_ENST00000305620.2_Missense_Mutation_p.S459F Q7RTS7 K2C74_HUMAN keratin 74 459 Tail. keratin filament structural molecule activity kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 BRCA - Breast invasive adenocarcinoma(357;0.191) GCTCACAGAGGATGGATTCTC 0.458000 20 33 0 0 1 0 0 NBAS 51594 broad.mit.edu 37 2 15607791 15607791 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:15607791G>A ENST00000281513.5 - 18 2040 c.2015C>T c.(2014-2016)tCc>tTc p.S672F NBAS_ENST00000441750.1_Missense_Mutation_p.S672F NM_015909.3 NP_056993.2 A2RRP1 NBAS_HUMAN neuroblastoma amplified sequence 672 NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3) 112 CATTTACTTGGAAAAGTTCAC 0.323000 6 16 0 0 1 0 0 KIF1C 10749 broad.mit.edu 37 17 4923831 4923831 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:4923831C>T ENST00000320785.5 + 20 2152 c.1795C>T c.(1795-1797)Cac>Tac p.H599Y KIF1C_ENST00000573815.1_3'UTR NM_006612.5 NP_006603.2 O43896 KIF1C_HUMAN kinesin family member 1C 599 microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER endoplasmic reticulum|Golgi apparatus|microtubule ATP binding|microtubule motor activity NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3) 30 CCGCTTCAACCACCCGGAGCA 0.577000 20 40 0 0 1 0 0 TRIM68 55128 broad.mit.edu 37 11 4621896 4621896 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:4621896G>A ENST00000300747.5 - 7 1357 c.1068C>T c.(1066-1068)ggC>ggT p.G356G NM_018073.6 NP_060543.5 Q6AZZ1 TRI68_HUMAN tripartite motif containing 68 356 B30.2/SPRY. protein autoubiquitination|regulation of androgen receptor signaling pathway Golgi apparatus|nucleolus|perinuclear region of cytoplasm androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1) 15 Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227) Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192) AGTAGTGCCGGCCTGAGGAGA 0.537000 10 22 0 0 1 0 0 CHID1 66005 broad.mit.edu 37 11 902274 902274 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:902274G>A ENST00000449825.1 - 4 674 c.318C>T c.(316-318)atC>atT p.I106I CHID1_ENST00000528581.1_Silent_p.I131I|CHID1_ENST00000436108.2_Silent_p.I106I|CHID1_ENST00000336845.5_Silent_p.I131I|CHID1_ENST00000429789.2_Silent_p.I106I|CHID1_ENST00000526714.1_5'UTR|CHID1_ENST00000323578.8_Silent_p.I106I|CHID1_ENST00000454838.2_Silent_p.I131I|CHID1_ENST00000323541.7_Silent_p.I136I NM_001142675.1 NP_001136147.1 Q9BWS9 CHID1_HUMAN chitinase domain containing 1 106 chitin catabolic process|innate immune response extracellular region|lysosome cation binding|chitinase activity endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1) 13 all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735) AGACGGGTGAGATCTGTGTGA 0.557000 39 46 0 0 1 0 0 SPNS2 124976 broad.mit.edu 37 17 4439592 4439592 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:4439592C>T ENST00000329078.3 + 11 1688 c.1478C>T c.(1477-1479)tCc>tTc p.S493F NM_001124758.1 NP_001118230.1 Q8IVW8 SPNS2_HUMAN spinster homolog 2 (Drosophila) 493 lipid transport|transmembrane transport integral to membrane large_intestine(3)|lung(1)|prostate(1)|skin(1) 6 ACTAAGGACTCCCCGCTCTGG 0.637000 20 49 0 0 1 0 0 EMC2 9694 broad.mit.edu 37 8 109491300 109491300 + Nonsense_Mutation SNP T T G TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:109491300T>G ENST00000220853.3 + 10 803 c.768T>G c.(766-768)taT>taG p.Y256* EMC2_ENST00000520294.1_3'UTR NM_014673.3 NP_055488.1 ER membrane protein complex subunit 2 ACATGAAATATGCTAGTTGGG 0.318000 27 34 0 0 1 0 0 C15orf39 56905 broad.mit.edu 37 15 75499396 75499396 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr15:75499396C>T ENST00000360639.2 + 2 1327 c.1007C>T c.(1006-1008)cCc>cTc p.P336L C15orf39_ENST00000394987.4_Missense_Mutation_p.P336L|C15orf39_ENST00000567617.1_Missense_Mutation_p.P336L Q6ZRI6 CO039_HUMAN chromosome 15 open reading frame 39 336 autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 16 CCTTACATTCCCCCACTGGGG 0.687000 24 61 0 0 1 0 0 CD300E 342510 broad.mit.edu 37 17 72608871 72608871 + Missense_Mutation SNP A A C TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:72608871A>C ENST00000392619.1 - 4 655 c.620T>G c.(619-621)cTg>cGg p.L207R CD300E_ENST00000426295.2_Missense_Mutation_p.L221R|CD300E_ENST00000328630.3_Missense_Mutation_p.L180R NM_181449.2 NP_852114.2 Q496F6 CLM2_HUMAN CD300e molecule 180 integral to membrane|plasma membrane receptor activity breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 19 GGGCAGCTTCAGAAGGACCAC 0.617000 36 56 0 0 1 0 0 IGSF21 84966 broad.mit.edu 37 1 18661444 18661444 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:18661444G>A ENST00000251296.1 + 4 747 c.364G>A c.(364-366)Gac>Aac p.D122N NM_032880.4 NP_116269.3 Q96ID5 IGS21_HUMAN immunoglobin superfamily, member 21 122 Ig-like 1. extracellular region endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 40 Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157) GGGCATCTACGACCGCGCCAC 0.622000 27 21 0 0 1 0 0 PDE10A 10846 broad.mit.edu 37 6 165809838 165809838 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr6:165809838G>A ENST00000366882.1 - 15 1513 c.1359C>T c.(1357-1359)acC>acT p.T453T PDE10A_ENST00000539869.2_Silent_p.T463T|PDE10A_ENST00000354448.4_Silent_p.T453T Q9Y233 PDE10_HUMAN phosphodiesterase 10A 453 platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 71 Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221) OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05) Dipyridamole(DB00975) GCACGGGAAGGGTGAATTGCA 0.418000 43 22 0 0 1 0 0 LONRF3 79836 broad.mit.edu 37 X 118124489 118124489 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:118124489G>A ENST00000365713.2 + 4 1421 c.1258G>A c.(1258-1260)Gac>Aac p.D420N LONRF3_ENST00000472173.1_3'UTR|LONRF3_ENST00000371628.3_Missense_Mutation_p.D461N|LONRF3_ENST00000422289.2_Missense_Mutation_p.D205N|LONRF3_ENST00000304778.7_Missense_Mutation_p.D420N Q496Y0 LONF3_HUMAN LON peptidase N-terminal domain and ring finger 3 461 proteolysis ATP-dependent peptidase activity|protein binding|zinc ion binding p.D461Y(1)|p.D420Y(1) NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 36 TGCATCTTTCGACGCATCTGA 0.493000 58 56 0 0 1 0 0 GRIN1 2902 broad.mit.edu 37 9 140056969 140056969 + Splice_Site SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr9:140056969G>A ENST00000371561.3 + 13 2961 c.e13+1 GRIN1_ENST00000471122.1_Splice_Site|GRIN1_ENST00000371546.4_Splice_Site|GRIN1_ENST00000371550.4_Splice_Site|GRIN1_ENST00000371555.4_Splice_Site|GRIN1_ENST00000371559.4_Splice_Site|GRIN1_ENST00000371560.3_Splice_Site|GRIN1_ENST00000371553.3_Splice_Site|GRIN1_ENST00000315048.3_Splice_Site|GRIN1_ENST00000350902.5_Splice_Site NM_007327.3 NP_015566.1 Q05586 NMDZ1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 1 ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0878) OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095) L-Glutamic Acid(DB00142)|Orphenadrine(DB01173) ATCGGGGAAGGTAAGGCCCCG 0.697000 13 1 0 0 1 0 0 SERPINE1 5054 broad.mit.edu 37 7 100775222 100775222 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:100775222C>T ENST00000223095.4 + 4 729 c.572C>T c.(571-573)gCc>gTc p.A191V SERPINE1_ENST00000445463.2_Missense_Mutation_p.A176V NM_000602.4 NP_000593.1 P05121 PAI1_HUMAN serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 191 angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen protease binding|serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3) 20 Lung NSC(181;0.136)|all_lung(186;0.182) Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013) CTGGTGAATGCCCTCTACTTC 0.557000 74 160 0 0 1 0 0 ENPP6 133121 broad.mit.edu 37 4 185018506 185018506 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr4:185018506G>A ENST00000296741.2 - 7 1150 c.1009C>T c.(1009-1011)Ccg>Tcg p.P337S NM_153343.3 NP_699174.1 Q6UWR7 ENPP6_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 6 337 lipid catabolic process extracellular region|integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2) 15 all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749) all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151) ATCCAAAACGGAAGCATCTCT 0.602000 20 30 0 0 1 0 0 AXIN1 8312 broad.mit.edu 37 16 396184 396184 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr16:396184G>A ENST00000262320.3 - 2 1213 c.842C>T c.(841-843)tCc>tTc p.S281F AXIN1_ENST00000481769.1_Intron|AXIN1_ENST00000354866.3_Missense_Mutation_p.S281F NM_003502.3 NP_003493.1 O15169 AXIN1_HUMAN axin 1 281 Interaction with TP53 (By similarity). activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2) 221 all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187) TCTACTGGAGGAGACCCTCGG 0.607000 32 26 0 0 1 0 0 SLC23A2 9962 broad.mit.edu 37 20 4843526 4843526 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr20:4843526C>T ENST00000379333.1 - 14 1776 c.1384G>A c.(1384-1386)Gga>Aga p.G462R SLC23A2_ENST00000424750.2_Missense_Mutation_p.G348R|SLC23A2_ENST00000338244.1_Missense_Mutation_p.G462R NM_203327.1 NP_976072.1 Q9UGH3 S23A2_HUMAN solute carrier family 23 (ascorbic acid transporter), member 2 462 L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport apical plasma membrane|integral to plasma membrane|membrane fraction nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 AGGGCTGCTCCGCACTGTATC 0.572000 11 29 0 0 1 0 0 COPG1 22820 broad.mit.edu 37 3 128976644 128976644 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:128976644C>T ENST00000314797.6 + 10 916 c.812C>T c.(811-813)gCc>gTc p.A271V NM_016128.3 NP_057212.1 Q9Y678 COPG_HUMAN coatomer protein complex, subunit gamma 1 271 COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol protein binding|structural molecule activity TATGAAGCCGCCTCGGCCATC 0.557000 83 134 0 0 1 0 0 PRPS2 5634 broad.mit.edu 37 X 12809655 12809655 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:12809655G>A ENST00000380668.5 + 1 167 c.39G>A c.(37-39)caG>caA p.Q13Q PRPS2_ENST00000489404.1_Silent_p.Q13Q|PRPS2_ENST00000398491.2_Silent_p.Q13Q NM_001039091.2|NM_002765.4 NP_001034180.1|NP_002756.1 P11908 PRPS2_HUMAN phosphoribosyl pyrophosphate synthetase 2 13 nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1) 16 GCTCGCATCAGGACCTGTCCC 0.711000 18 26 0 0 1 0 0 THRAP3 9967 broad.mit.edu 37 1 36752627 36752627 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:36752627C>T ENST00000354618.5 + 4 1020 c.796C>T c.(796-798)Cgt>Tgt p.R266C THRAP3_ENST00000469141.2_Missense_Mutation_p.R266C NM_005119.3 NP_005110.2 Q9Y2W1 TR150_HUMAN thyroid hormone receptor associated protein 3 266 Ser-rich. androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1) 37 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) GCGGTCACCCCGTCCTAGCCC 0.617000 T USP6 aneurysmal bone cysts 43 40 0 0 1 0 0 LANCL3 347404 broad.mit.edu 37 X 37431157 37431157 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:37431157G>A ENST00000378621.3 + 1 336 c.34G>A c.(34-36)Gat>Aat p.D12N LANCL3_ENST00000378619.3_Missense_Mutation_p.D12N|TM4SF2_ENST00000465127.1_Intron NM_198511.2 NP_940913.1 Q6ZV70 LANC3_HUMAN LanC lantibiotic synthetase component C-like 3 (bacterial) 12 catalytic activity lung(4)|pancreas(1) 5 CAATCGCTTCGATGACTACCA 0.667000 9 24 0 0 1 0 0 SLC35B2 347734 broad.mit.edu 37 6 44224578 44224578 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr6:44224578G>A ENST00000393812.3 - 2 192 c.49C>T c.(49-51)Cta>Tta p.L17L SLC35B2_ENST00000537814.1_Intron|SLC35B2_ENST00000393810.1_Silent_p.L17L|SLC35B2_ENST00000495706.1_Intron|SLC35B2_ENST00000538577.1_5'UTR NM_178148.2 NP_835361.1 Q8TB61 S35B2_HUMAN solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2 17 positive regulation of I-kappaB kinase/NF-kappaB cascade Golgi membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1) 15 all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) CCTGCCCCTAGGGAGGGGAAC 0.602000 9 37 0 0 1 0 0 MRPL48 51642 broad.mit.edu 37 11 73555875 73555875 + Silent SNP G G T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:73555875G>T ENST00000535529.1 + 6 383 c.171G>T c.(169-171)gtG>gtT p.V57V MRPL48_ENST00000398483.3_5'UTR|MRPL48_ENST00000411840.2_5'UTR|MRPL48_ENST00000542303.1_Intron|MRPL48_ENST00000314282.7_5'UTR|MRPL48_ENST00000310614.7_Silent_p.V75V Q96GC5 RM48_HUMAN mitochondrial ribosomal protein L48 75 translation mitochondrial ribosome protein binding|structural constituent of ribosome kidney(1) 1 AGGGAAAAGTGGAAGTGAGAG 0.333000 13 28 1.49906e-05 1.50627e-05 1 1 0 CAPN6 827 broad.mit.edu 37 X 110494328 110494328 + Missense_Mutation SNP C C A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:110494328C>A ENST00000324068.1 - 8 1142 c.975G>T c.(973-975)atG>atT p.M325I CAPN6_ENST00000541758.1_Missense_Mutation_p.M70I NM_014289.3 NP_055104.2 Q9Y6Q1 CAN6_HUMAN calpain 6 325 Calpain catalytic. microtubule bundle formation|proteolysis|regulation of cytoskeleton organization perinuclear region of cytoplasm|spindle microtubule calcium-dependent cysteine-type endopeptidase activity|microtubule binding cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 47 CCTCCAAGCTCATCCTGAATG 0.438000 126 229 2.02856e-45 2.07769e-45 1 1 0 HAUS5 23354 broad.mit.edu 37 19 36113525 36113525 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:36113525C>T ENST00000203166.5 + 18 1699 c.1674C>T c.(1672-1674)tcC>tcT p.S558S HAUS5_ENST00000379045.2_3'UTR NM_015302.1 NP_056117.1 O94927 HAUS5_HUMAN HAUS augmin-like complex, subunit 5 558 cell division|centrosome organization|mitosis|spindle assembly centrosome|HAUS complex|microtubule|spindle NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2) 16 TCCAGGCATCCCAGGAAAAAC 0.562000 14 25 0 0 1 0 0 LRRC4C 57689 broad.mit.edu 37 11 40137329 40137329 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:40137329G>A ENST00000278198.2 - 2 2477 c.514C>T c.(514-516)Cct>Tct p.P172S LRRC4C_ENST00000527150.1_Missense_Mutation_p.P172S|LRRC4C_ENST00000528697.1_Missense_Mutation_p.P172S|LRRC4C_ENST00000530763.1_Missense_Mutation_p.P172S Q9HCJ2 LRC4C_HUMAN leucine rich repeat containing 4C 172 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) CGCAAAGAAGGAATTCTGTTA 0.428000 32 47 0 0 1 0 0 ITGA7 3679 broad.mit.edu 37 12 56078980 56078980 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:56078980C>T ENST00000257879.6 - 25 3491 c.3276G>A c.(3274-3276)aaG>aaA p.K1092K ITGA7_ENST00000555728.1_Silent_p.K1136K|ITGA7_ENST00000257880.7_3'UTR|ITGA7_ENST00000553804.1_Silent_p.K1096K|ITGA7_ENST00000452168.2_Silent_p.K999K|ITGA7_ENST00000347027.6_Silent_p.K1086K|ITGA7_ENST00000394230.2_3'UTR|ITGA7_ENST00000394229.2_3'UTR NM_002206.2 NP_002197.2 Q13683 ITA7_HUMAN integrin, alpha 7 1136 cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape integrin complex receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 TCTTCTCCTCCTTGAACTGCT 0.637000 28 57 0 0 1 0 0 FAH 2184 broad.mit.edu 37 15 80465430 80465430 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr15:80465430C>T ENST00000539156.1 + 8 2809 c.571C>T c.(571-573)Ccg>Tcg p.P191S FAH_ENST00000558627.1_3'UTR|FAH_ENST00000561421.1_Missense_Mutation_p.P261S|FAH_ENST00000407106.1_Missense_Mutation_p.P261S|FAH_ENST00000261755.5_Missense_Mutation_p.P261S P16930 FAAA_HUMAN fumarylacetoacetate hydrolase (fumarylacetoacetase) 261 L-phenylalanine catabolic process|tyrosine catabolic process cytosol fumarylacetoacetase activity|metal ion binding endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 CACTGTCTCTCCGTGGGTGGT 0.577000 Tyrosinemia, type 1 OREG0023354 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 53 82 0 0 1 0 0 C7 730 broad.mit.edu 37 5 40981622 40981622 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:40981622G>A ENST00000313164.9 + 18 2838 c.2479G>A c.(2479-2481)Ggg>Agg p.G827R NM_000587.2 NP_000578.2 P10643 CO7_HUMAN complement component 7 827 Complement control factor I module 2. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex Ovarian(839;0.0112) GAGATGCAGAGGGCAGAGCAT 0.577000 9 11 0 0 1 0 0 HMCN1 83872 broad.mit.edu 37 1 186022089 186022089 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:186022089C>T ENST00000271588.4 + 43 6812 c.6583C>T c.(6583-6585)Cca>Tca p.P2195S HMCN1_ENST00000367492.2_Missense_Mutation_p.P2195S NM_031935.2 NP_114141.2 Q96RW7 HMCN1_HUMAN hemicentin 1 2195 Ig-like C2-type 20. 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 TCTAGTCCCCCCAAATATTGG 0.338000 7 43 0 0 1 0 0 CPA3 1359 broad.mit.edu 37 3 148599358 148599358 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:148599358G>A ENST00000296046.3 + 7 678 c.626G>A c.(625-627)cGa>cAa p.R209Q RP11-680B3.2_ENST00000488190.1_RNA NM_001870.2 NP_001861.2 P15088 CBPA3_HUMAN carboxypeptidase A3 (mast cell) 209 proteolysis stored secretory granule|transport vesicle metallocarboxypeptidase activity|zinc ion binding NS(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 35 LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115) CTCTTGGACCGAATGAATTTT 0.338000 14 35 0 0 1 0 0 MYT1 4661 broad.mit.edu 37 20 62854481 62854481 + Missense_Mutation SNP G G T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr20:62854481G>T ENST00000536311.1 + 15 2859 c.2495G>T c.(2494-2496)tGt>tTt p.C832F MYT1_ENST00000328439.1_Missense_Mutation_p.C805F|MYT1_ENST00000360149.4_Missense_Mutation_p.C507F Q01538 MYT1_HUMAN myelin transcription factor 1 805 cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) ACCCCTGGCTGTGACGGCAGC 0.642000 57 97 2.67592e-24 2.73319e-24 1 1 0 TBC1D29 26083 broad.mit.edu 37 17 28889931 28889931 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:28889931C>T ENST00000580161.1 + 5 2720 c.223C>T c.(223-225)Ccc>Tcc p.P75S TBC1D29_ENST00000579181.1_Missense_Mutation_p.P75S|TBC1D29_ENST00000584297.1_Intron Q9UFV1 TBC29_HUMAN TBC1 domain family, member 29 75 intracellular Rab GTPase activator activity breast(1)|kidney(1)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 Myeloproliferative disorder(56;0.0255) ACCTGCCACCCCCAGGTGGGC 0.522000 24 44 0 0 1 0 0 SLC4A1 6521 broad.mit.edu 37 17 42336948 42336948 + Splice_Site SNP C C G TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:42336948C>G ENST00000262418.6 - 8 766 c.609_splice c.e8-1 p.G204_splice AC003043.1_ENST00000597382.1_Intron NM_000342.3 NP_000333.1 P02730 B3AT_HUMAN solute carrier family 4 (anion exchanger), member 1 204 bicarbonate transport|cellular ion homeostasis basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 40 Breast(137;0.014)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.115) GCCCCCATCTCCCTGTGGGAA 0.592000 26 27 0 0 1 0 0 DEFB123 245936 broad.mit.edu 37 20 30028510 30028510 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr20:30028510C>T ENST00000376309.3 + 1 189 c.9C>T c.(7-9)ctC>ctT p.L3L NM_153324.2 NP_697019.1 Q8N688 DB123_HUMAN defensin, beta 123 3 defense response to bacterium extracellular region kidney(1)|lung(2) 3 Lung NSC(7;0.000139)|all_lung(7;0.000197)|all_hematologic(12;0.158) Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347) CCATGAAGCTCCTTTTGCTGA 0.557000 124 212 0 0 1 0 0 HYAL3 8372 broad.mit.edu 37 3 50330826 50330826 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:50330826G>A ENST00000336307.1 - 4 1377 c.1105C>T c.(1105-1107)Cgg>Tgg p.R369W HYAL3_ENST00000513170.1_Missense_Mutation_p.R90W|HYAL3_ENST00000450982.1_Missense_Mutation_p.R339W|HYAL3_ENST00000415204.1_Missense_Mutation_p.R120W|HYAL3_ENST00000359051.3_Missense_Mutation_p.R339W NM_001200029.1|NM_003549.3 NP_001186958.1|NP_003540.2 O43820 HYAL3_HUMAN hyaluronoglucosaminidase 3 369 EGF-like. carbohydrate metabolic process extracellular region|lysosome hyalurononglucosaminidase activity central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607) GGATCTCGCCGGGCACAGCGC 0.617000 22 32 0 0 1 0 0 ACTBL2 345651 broad.mit.edu 37 5 56778022 56778022 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:56778022G>A ENST00000423391.1 - 1 614 c.513C>T c.(511-513)gcC>gcT p.A171A CTD-2023N9.1_ENST00000506106.1_RNA NM_001017992.3 NP_001017992.1 Q562R1 ACTBL_HUMAN actin, beta-like 2 171 cytoplasm|cytoskeleton ATP binding breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2) 28 Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182) OV - Ovarian serous cystadenocarcinoma(10;4.24e-37) CATGAGGCAGGGCATAACCTT 0.547000 22 53 0 0 1 0 0 PRPS1L1 221823 broad.mit.edu 37 7 18066490 18066490 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:18066490C>T ENST00000506618.2 - 1 996 c.916G>A c.(916-918)Ggg>Agg p.G306R NM_175886.2 NP_787082.1 P21108 PRPS3_HUMAN phosphoribosyl pyrophosphate synthetase 1-like 1 306 nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3) 18 Lung NSC(10;0.0385)|all_lung(11;0.0736) ACAGATTCCCCATTATGAGTT 0.343000 75 181 0 0 1 0 0 UTS2R 2837 broad.mit.edu 37 17 80332634 80332634 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:80332634G>A ENST00000313135.2 + 1 482 c.434G>A c.(433-435)aGc>aAc p.S145N NM_018949.1 NP_061822.1 Q9UKP6 UR2R_HUMAN urotensin 2 receptor 145 integral to membrane|plasma membrane breast(1)|endometrium(4)|kidney(1)|lung(2) 8 Breast(20;0.00106)|all_neural(118;0.0804) OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833) ACCGTCATGAGCAGCGAGCGC 0.687000 10 13 0 0 1 0 0 COL16A1 1307 broad.mit.edu 37 1 32164198 32164198 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:32164198G>A ENST00000373672.3 - 5 792 c.276C>T c.(274-276)ttC>ttT p.F92F COL16A1_ENST00000271069.6_Silent_p.F92F|COL16A1_ENST00000373668.3_Silent_p.F92F NM_001856.3 NP_001847.3 Q07092 COGA1_HUMAN collagen, type XVI, alpha 1 92 TSP N-terminal. cell adhesion|female pregnancy|integrin-mediated signaling pathway collagen type XVI integrin binding|structural molecule activity breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4) 48 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116) STAD - Stomach adenocarcinoma(196;0.059) GACCCCGAGGGAATACTCTTC 0.572000 23 24 0 0 1 0 0 BAD 572 broad.mit.edu 37 11 64037640 64037640 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:64037640G>A ENST00000544785.1 - 2 357 c.357C>T c.(355-357)gcC>gcT p.A119A BAD_ENST00000394532.3_3'UTR|BAD_ENST00000309032.3_3'UTR Q92934 BAD_HUMAN BCL2-associated agonist of cell death 0 activation of pro-apoptotic gene products|ADP metabolic process|ATP metabolic process|cellular response to hypoxia|cellular response to mechanical stimulus|cellular response to nicotine|glucose homeostasis|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|pore complex assembly|positive regulation of epithelial cell proliferation|positive regulation of glucokinase activity|positive regulation of insulin secretion|positive regulation of mitochondrial membrane potential|positive regulation of type B pancreatic cell development|regulation of mitochondrial membrane permeability|type B pancreatic cell proliferation cytosol|mitochondrial outer membrane caspase activator activity|phospholipid binding|protein kinase binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1) 4 GGCTGCCCAGGGCAGTGGGAA 0.597000 14 15 0 0 1 0 0 TMC2 117532 broad.mit.edu 37 20 2542542 2542542 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr20:2542542C>T ENST00000358864.1 + 4 455 c.440C>T c.(439-441)tCc>tTc p.S147F NM_080751.2 NP_542789.2 Q8TDI7 TMC2_HUMAN transmembrane channel-like 2 147 Arg/Asp/Glu/Lys-rich (highly charged). integral to membrane NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 35 GGTGGGGAGTCCCTGTCCGAG 0.612000 29 48 0 0 1 0 0 MAGEA5 4104 broad.mit.edu 37 X 151283787 151283787 + RNA SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:151283787C>T ENST00000509345.2 - 0 549 p.D76N(1) AGAGTGAAATCGATGGCAGTG 0.612000 45 90 0 0 1 0 0 PAOX 196743 broad.mit.edu 37 10 135195063 135195063 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:135195063C>T ENST00000278060.5 + 3 851 c.768C>T c.(766-768)ttC>ttT p.F256F PAOX_ENST00000480071.2_Silent_p.F256F|PAOX_ENST00000368535.2_3'UTR|PAOX_ENST00000357296.3_Silent_p.F256F|PAOX_ENST00000368539.4_3'UTR NM_152911.2 NP_690875.1 Q6QHF9 PAOX_HUMAN polyamine oxidase (exo-N4-amino) 394 polyamine biosynthetic process|xenobiotic metabolic process peroxisomal matrix polyamine oxidase activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2) 23 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06) ACGGGTCCTTCCAGGAGGCAG 0.587000 24 36 0 0 1 0 0 TRAV8-1 28685 broad.mit.edu 37 14 22265623 22265623 + RNA SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr14:22265623G>A ENST00000390430.2 + 0 165 TGCTGGGGATGATTTTTGCCC 0.438000 7 19 0 0 1 0 0 SIPA1L2 57568 broad.mit.edu 37 1 232601075 232601075 + Silent SNP C C A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:232601075C>A ENST00000366630.1 - 8 2689 c.2331G>T c.(2329-2331)cgG>cgT p.R777R SIPA1L2_ENST00000262861.4_Silent_p.R777R Q9P2F8 SI1L2_HUMAN signal-induced proliferation-associated 1 like 2 777 Rap-GAP. regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 103 all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186) AAAGGAAGTCCCGGAACACGG 0.453000 77 25 5.82419e-33 5.95976e-33 1 1 0 PDE1A 5136 broad.mit.edu 37 2 183099206 183099206 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:183099206G>A ENST00000435564.1 - 4 618 c.418C>T c.(418-420)Cat>Tat p.H140Y PDE1A_ENST00000482538.1_5'UTR|PDE1A_ENST00000410103.1_Missense_Mutation_p.H140Y|PDE1A_ENST00000409365.1_Missense_Mutation_p.H124Y|PDE1A_ENST00000536095.1_Missense_Mutation_p.H36Y|PDE1A_ENST00000351439.5_Missense_Mutation_p.H124Y|PDE1A_ENST00000346717.4_Missense_Mutation_p.H106Y|PDE1A_ENST00000358139.2_Missense_Mutation_p.H140Y|PDE1A_ENST00000456212.1_Missense_Mutation_p.H140Y|PDE1A_ENST00000331935.6_Missense_Mutation_p.H140Y NM_001258312.1|NM_005019.4 NP_001245241.1|NP_005010.2 P54750 PDE1A_HUMAN phosphodiesterase 1A, calmodulin-dependent 140 activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(117;0.061) CCAACCATATGATATGTTTTT 0.264000 51 57 0 0 1 0 0 ZNF687 57592 broad.mit.edu 37 1 151259471 151259471 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:151259471C>T ENST00000368879.2 + 2 802 c.704C>T c.(703-705)gCc>gTc p.A235V NM_020832.1 NP_065883.1 Q8N1G0 ZN687_HUMAN zinc finger protein 687 235 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|zinc ion binding breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2) 32 Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) CAGGTCCTAGCCCAACAAGGC 0.642000 20 75 0 0 1 0 0 JAK3 3718 broad.mit.edu 37 19 17950353 17950353 + Nonsense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:17950353C>T ENST00000458235.1 - 10 1473 c.1374G>A c.(1372-1374)tgG>tgA p.W458* JAK3_ENST00000527670.1_Nonsense_Mutation_p.W458*|JAK3_ENST00000534444.1_Nonsense_Mutation_p.W458*|JAK3_ENST00000526008.1_5'UTR NM_000215.3 NP_000206.2 P52333 JAK3_HUMAN Janus kinase 3 458 SH2; atypical. B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis cytoskeleton|cytosol|endomembrane system|membrane ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5) 147 GCCCCCCATCCCAGCAGGTTG 0.627000 2 Mis """acute megakaryocytic leukemia, ETP ALL""" 3 7 0 0 1 0 0 HNRNPAB 3182 broad.mit.edu 37 5 177637261 177637261 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:177637261G>A ENST00000358344.3 + 7 1173 c.916G>A c.(916-918)Ggc>Agc p.G306S HNRNPAB_ENST00000506339.1_Missense_Mutation_p.G301S|HNRNPAB_ENST00000506259.1_Intron|HNRNPAB_ENST00000514633.1_Intron|HNRNPAB_ENST00000504898.1_Missense_Mutation_p.G306S|PHYKPL_ENST00000481811.1_Intron|HNRNPAB_ENST00000355836.5_Intron|PHYKPL_ENST00000308158.5_Intron|HNRNPAB_ENST00000515193.1_Intron NM_031266.2 NP_112556.2 Q99729 ROAA_HUMAN heterogeneous nuclear ribonucleoprotein A/B 306 Gly-rich. epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|ribonucleoprotein complex mRNA binding|nucleotide binding|protein binding large_intestine(4)|prostate(1)|urinary_tract(1) 6 CTACGGCCCCGGCTACGACTA 0.642000 19 30 0 0 1 0 0 PSME4 23198 broad.mit.edu 37 2 54175661 54175661 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:54175661G>A ENST00000404125.1 - 3 452 c.397C>T c.(397-399)Ctt>Ttt p.L133F PSME4_ENST00000421748.2_Intron NM_014614.2 NP_055429.2 Q14997 PSME4_HUMAN proteasome (prosome, macropain) activator subunit 4 133 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction nuclear speck|proteasome complex binding breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2) 60 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) GCTCTTGAAAGAAGTTCCTTT 0.348000 32 84 0 0 1 0 0 SRPRB 58477 broad.mit.edu 37 3 133538558 133538558 + Missense_Mutation SNP T T C TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:133538558T>C ENST00000466490.2 + 8 1049 c.764T>C c.(763-765)gTg>gCg p.V255A NM_021203.3 NP_067026.3 Q9Y5M8 SRPRB_HUMAN signal recognition particle receptor, B subunit 255 endoplasmic reticulum membrane|integral to membrane GTP binding|protein binding|receptor activity breast(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(2) 12 AGAGGGGACGTGGGCTCTGCT 0.527000 16 25 0 0 1 0 0 SNTG1 54212 broad.mit.edu 37 8 51617306 51617306 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:51617306G>A ENST00000522124.1 + 16 1846 c.1185G>A c.(1183-1185)cgG>cgA p.R395R SNTG1_ENST00000517473.1_Silent_p.R395R|SNTG1_ENST00000276467.5_Silent_p.R395R|SNTG1_ENST00000518864.1_Silent_p.R395R NM_018967.2 NP_061840.1 Q9NSN8 SNTG1_HUMAN syntrophin, gamma 1 395 cell communication cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex actin binding|protein C-terminus binding NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 66 all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22) AAGTAGAACGGATACAGGTGA 0.493000 20 24 0 0 1 0 0 SLC12A1 6557 broad.mit.edu 37 15 48500321 48500321 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr15:48500321C>T ENST00000396577.3 + 2 620 c.405C>T c.(403-405)caC>caT p.H135H SLC12A1_ENST00000558405.1_Silent_p.H135H|SLC12A1_ENST00000561031.1_Silent_p.H135H|SLC12A1_ENST00000330289.6_Silent_p.H135H|SLC12A1_ENST00000380993.3_Silent_p.H135H NM_001184832.1 NP_001171761.1 Q13621 S12A1_HUMAN solute carrier family 12 (sodium/potassium/chloride transporter), member 1 135 potassium ion transport|sodium ion transport integral to membrane|membrane fraction sodium:potassium:chloride symporter activity NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1) 59 all_lung(180;0.00219) all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06) Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021) TTGAGATTCACGAGCAACTCG 0.468000 37 51 0 0 1 0 0 OR4C11 219429 broad.mit.edu 37 11 55371481 55371481 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:55371481G>A ENST00000302231.4 - 1 393 c.369C>T c.(367-369)gcC>gcT p.A123A NM_001004700.2 NP_001004700.2 Q6IEV9 OR4CB_HUMAN olfactory receptor, family 4, subfamily C, member 11 123 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1) 33 GCTTACAGATGGCCACATAGC 0.458000 26 36 0 0 1 0 0 PMVK 10654 broad.mit.edu 37 1 154898901 154898901 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:154898901G>A ENST00000368467.3 - 4 676 c.371C>T c.(370-372)gCc>gTc p.A124V NM_006556.3 NP_006547.1 Q15126 PMVK_HUMAN phosphomevalonate kinase 124 cholesterol biosynthetic process|protein phosphorylation cytosol|peroxisome ATP binding|phosphomevalonate kinase activity|protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(3) 6 all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.142) BRCA - Breast invasive adenocarcinoma(34;0.00034) CTGCGTCACGGCCCCATAGGC 0.612000 16 21 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179598474 179598474 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:179598474G>A ENST00000589042.1 - 53 15866 c.15642C>T c.(15640-15642)atC>atT p.I5214I TTN_ENST00000342992.6_Silent_p.I3970I|TTN_ENST00000591111.1_Silent_p.I4897I|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 4897 Ig-like 32. 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) AGCTCATTTTGATTTTTCCGT 0.453000 59 94 0 0 1 0 0 VASH1 22846 broad.mit.edu 37 14 77239592 77239592 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr14:77239592C>T ENST00000554237.1 + 4 1061 c.568C>T c.(568-570)Ctc>Ttc p.L190F VASH1_ENST00000167106.4_Intron|VASH1_ENST00000556038.1_Intron Q7L8A9 VASH1_HUMAN vasohibin 1 0 cell cycle arrest|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of endothelial cell proliferation endoplasmic reticulum|extracellular space breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|urinary_tract(3) 10 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0283) GTCCGGGcttctctgggcctc 0.577000 9 25 0 0 1 0 0 SF3A1 10291 broad.mit.edu 37 22 30736230 30736230 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr22:30736230G>A ENST00000439242.1 - 9 1266 c.1135C>T c.(1135-1137)Cgc>Tgc p.R379C SF3A1_ENST00000215793.7_Missense_Mutation_p.R444C NM_001005409.1 NP_001005409.1 Q15459 SF3A1_HUMAN splicing factor 3a, subunit 1, 120kDa 444 nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex protein binding|RNA binding endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1) 29 CGGATGGAGCGATCCCGCTGC 0.572000 8 10 0 0 1 0 0 ZP2 7783 broad.mit.edu 37 16 21213515 21213515 + Silent SNP T T A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr16:21213515T>A ENST00000574002.1 - 12 1679 c.1197A>T c.(1195-1197)ggA>ggT p.G399G ZP2_ENST00000219593.4_Silent_p.G399G|ZP2_ENST00000574091.1_Silent_p.G399G|AF001550.7_ENST00000572747.1_RNA Q05996 ZP2_HUMAN zona pellucida glycoprotein 2 (sperm receptor) 399 ZP. binding of sperm to zona pellucida|intracellular protein transport endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule acrosin binding|coreceptor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1) 41 GBM - Glioblastoma multiforme(48;0.0573) AGGATGAGTTTCCCACCCTCA 0.527000 19 19 0 0 1 0 0 HSPG2 3339 broad.mit.edu 37 1 22206876 22206876 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:22206876G>A ENST00000374695.3 - 16 2254 c.2175C>T c.(2173-2175)gcC>gcT p.A725A NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 725 Laminin IV type A 1. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) CCACACTGTGGGCACGGCCAT 0.617000 17 15 0 0 1 0 0 EML1 2009 broad.mit.edu 37 14 100331945 100331945 + Silent SNP C C T rs139395720 byFrequency TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr14:100331945C>T ENST00000262233.6 + 3 484 c.345C>T c.(343-345)tcC>tcT p.S115S EML1_ENST00000334192.4_Silent_p.S115S|EML1_ENST00000327921.9_Silent_p.S84S|EML1_ENST00000556758.1_3'UTR NM_004434.2 NP_004425.2 O00423 EMAL1_HUMAN echinoderm microtubule associated protein like 1 115 cytoplasm|microtubule|microtubule associated complex calcium ion binding|protein binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Melanoma(154;0.0879)|all_epithelial(191;0.216) CATCCCCCTCCGGGGTCAGGA 0.493000 23 17 0 0 1 0 0 TCHH 7062 broad.mit.edu 37 1 152079984 152079984 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:152079984G>A ENST00000368804.1 - 2 5708 c.5709C>T c.(5707-5709)tcC>tcT p.S1903S NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 1903 keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCCCTTCTTGGGATTTTATCT 0.577000 51 49 0 0 1 0 0 GCN1L1 10985 broad.mit.edu 37 12 120585975 120585975 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:120585975G>A ENST00000300648.6 - 37 4734 c.4722C>T c.(4720-4722)atC>atT p.I1574I NM_006836.1 NP_006827.1 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 1-like 1 (yeast) 1574 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GCCTACCCAGGATCTCCGGGT 0.592000 7 35 0 0 1 0 0 IFNL2 282616 broad.mit.edu 37 19 39760639 39760639 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:39760639G>A ENST00000331982.5 + 6 644 c.589G>A c.(589-591)Gac>Aac p.D197N NM_172138.1 NP_742150.1 interferon, lambda 2 TGCCAGTGGGGACCTGTGTGT 0.517000 3 10 0 0 1 0 0 POTEA 340441 broad.mit.edu 37 8 43159892 43159892 + RNA SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:43159892C>T ENST00000522175.2 + 0 748 Q6S8J7 POTEA_HUMAN POTE ankyrin domain family, member A p.S295Y(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 CCAAACAACTCTTCTGGAAAT 0.338000 41 55 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9063304 9063304 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:9063304C>T ENST00000397910.4 - 3 24345 c.24142G>A c.(24142-24144)Gag>Aag p.E8048K NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 8050 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGAGTTTTCTCTGTATCTGTG 0.463000 26 23 0 0 1 0 0 SCN5A 6331 broad.mit.edu 37 3 38648264 38648264 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:38648264C>T ENST00000413689.1 - 9 1229 c.1036G>A c.(1036-1038)Gag>Aag p.E346K SCN5A_ENST00000414099.2_Missense_Mutation_p.E346K|SCN5A_ENST00000451551.2_Missense_Mutation_p.E346K|SCN5A_ENST00000455624.2_Missense_Mutation_p.E346K|SCN5A_ENST00000423572.2_Missense_Mutation_p.E346K|SCN5A_ENST00000450102.2_Missense_Mutation_p.E346K|SCN5A_ENST00000449557.2_Missense_Mutation_p.E346K|SCN5A_ENST00000425664.1_Missense_Mutation_p.E346K|SCN5A_ENST00000333535.4_Missense_Mutation_p.E346K|SCN5A_ENST00000443581.1_Missense_Mutation_p.E346K NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 346 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) TCGGGGTTCTCGCCTGCCTTT 0.602000 28 48 0 0 1 0 0 ANKRD33 341405 broad.mit.edu 37 12 52284409 52284409 + Missense_Mutation SNP G G T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:52284409G>T ENST00000301190.6 + 5 906 c.679G>T c.(679-681)Gcc>Tcc p.A227S ANKRD33_ENST00000547119.1_3'UTR|ANKRD33_ENST00000538991.1_Missense_Mutation_p.A33S|ANKRD33_ENST00000340970.4_Missense_Mutation_p.A102S NM_001130015.1|NM_182608.3 NP_001123487.1|NP_872414.3 Q7Z3H0 ANR33_HUMAN ankyrin repeat domain 33 102 endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 22 BRCA - Breast invasive adenocarcinoma(357;0.0969) GGGCAAGACGGCCCTGGAATG 0.622000 12 14 0.0167234 0.0167434 1 1 0 TLN2 83660 broad.mit.edu 37 15 63068995 63068995 + Silent SNP C C T rs145072613 byFrequency TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr15:63068995C>T ENST00000561311.1 + 42 5630 c.5400C>T c.(5398-5400)gcC>gcT p.A1800A TLN2_ENST00000472902.1_Silent_p.A193A|TLN2_ENST00000306829.6_Silent_p.A1800A Q9Y4G6 TLN2_HUMAN talin 2 1800 cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse actin binding|insulin receptor binding|structural constituent of cytoskeleton NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5) 99 TCACAGAGGCCGCCCAGTTGA 0.537000 8 30 0 0 1 0 0 CUX1 1523 broad.mit.edu 37 7 101845342 101845342 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:101845342C>T ENST00000360264.3 + 18 2818 c.2798C>T c.(2797-2799)cCc>cTc p.P933L CUX1_ENST00000560541.1_Intron|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000550008.2_Missense_Mutation_p.P866L|CUX1_ENST00000292535.7_Missense_Mutation_p.P922L|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000549414.2_Missense_Mutation_p.P900L|CUX1_ENST00000546411.2_Missense_Mutation_p.P820L|CUX1_ENST00000556210.1_Missense_Mutation_p.P764L NM_001202543.1 NP_001189472.1 P39880 CUX1_HUMAN cut-like homeobox 1 922 negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5) 70 ATGTCCAAGCCCACCAAGCCC 0.637000 40 91 0 0 1 0 0 CACUL1 143384 broad.mit.edu 37 10 120450799 120450799 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:120450799G>A ENST00000369151.3 - 7 1486 c.1003C>T c.(1003-1005)Ctt>Ttt p.L335F CACUL1_ENST00000544392.1_5'UTR NM_153810.4 NP_722517.3 CDK2-associated, cullin domain 1 TTCTGTATAAGTTCTCTTTGA 0.383000 73 87 0 0 1 0 0 ZNF439 90594 broad.mit.edu 37 19 11978939 11978939 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:11978939G>A ENST00000304030.2 + 3 1255 c.1055G>A c.(1054-1056)aGa>aAa p.R352K ZNF439_ENST00000455282.1_Missense_Mutation_p.R216K|ZNF439_ENST00000592534.1_Intron NM_152262.2 NP_689475.1 Q8NDP4 ZN439_HUMAN zinc finger protein 439 352 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2) 27 TCTGGAGAAAGACCTTATGAA 0.373000 6 59 0 0 1 0 0 COL22A1 169044 broad.mit.edu 37 8 139611073 139611073 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:139611073G>A ENST00000303045.6 - 61 4700 c.4254C>T c.(4252-4254)atC>atT p.I1418I COL22A1_ENST00000435777.1_Silent_p.I1398I|COL22A1_ENST00000341807.4_5'UTR NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 1418 Collagen-like 14.|Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) TGTGGCCTGGGATTCCAGGGT 0.592000 HNSCC(7;0.00092) 26 46 0 0 1 0 0 DUSP27 92235 broad.mit.edu 37 1 167096524 167096524 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:167096524C>T ENST00000361200.2 + 6 2322 c.2156C>T c.(2155-2157)tCc>tTc p.S719F DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.S719F|DUSP27_ENST00000443333.1_Missense_Mutation_p.S719F Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 (putative) 719 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3) 89 GACACCATTTCCATTGCCAGT 0.547000 15 30 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179413404 179413404 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:179413404C>T ENST00000589042.1 - 339 93173 c.92949G>A c.(92947-92949)gtG>gtA p.V30983V TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342992.6_Silent_p.V28415V|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000591111.1_Silent_p.V29342V|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Silent_p.V22043V|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Silent_p.V22110V|TTN_ENST00000460472.2_Silent_p.V21918V|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 29342 Fibronectin type-III 126. 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) TGCAGTTTTCCACAGTGAGGG 0.453000 53 81 0 0 1 0 0 FAT2 2196 broad.mit.edu 37 5 150947317 150947317 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:150947317G>A ENST00000261800.5 - 1 1188 c.1176C>T c.(1174-1176)aaC>aaT p.N392N NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 392 Cadherin 3. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CATACTGCAGGTTGGGGAAGG 0.498000 18 51 0 0 1 0 0 RHOXF2 84528 broad.mit.edu 37 X 119293316 119293316 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:119293316C>T ENST00000371388.3 + 2 665 c.475C>T c.(475-477)Ccc>Tcc p.P159S NM_032498.1 NP_115887.1 Q9BQY4 RHXF2_HUMAN Rhox homeobox family, member 2 159 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|endometrium(2)|large_intestine(2)|lung(1)|skin(2) 8 CGAGCAGTTCCCCAGTGAGTT 0.652000 15 19 0 0 1 0 0 DUOXA1 90527 broad.mit.edu 37 15 45410265 45410265 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr15:45410265G>A ENST00000267803.4 - 10 1393 c.994C>T c.(994-996)Cgc>Tgc p.R332C DUOXA1_ENST00000559014.1_Missense_Mutation_p.R332C|DUOXA2_ENST00000323030.5_3'UTR|DUOXA1_ENST00000558996.1_3'UTR|DUOXA1_ENST00000430224.2_Missense_Mutation_p.R287C NM_144565.2 NP_653166.2 Q1HG43 DOXA1_HUMAN dual oxidase maturation factor 1 0 protein transport endoplasmic reticulum membrane|integral to membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 16 all_cancers(109;6.02e-08)|all_epithelial(112;1.83e-06)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417) all cancers(107;3.82e-18)|GBM - Glioblastoma multiforme(94;4.39e-07)|COAD - Colon adenocarcinoma(120;0.0676)|Colorectal(133;0.0686) CTCCTGGGGCGATCTGTAAAT 0.552000 OREG0023102 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 18 0 0 1 0 0 HSF1 3297 broad.mit.edu 37 8 145535877 145535877 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:145535877C>T ENST00000528838.1 + 9 1249 c.1089C>T c.(1087-1089)tcC>tcT p.S363S HSF1_ENST00000400780.4_Silent_p.S298S NM_005526.2 NP_005517.1 Q00613 HSF1_HUMAN heat shock transcription factor 1 363 cytoplasm protein binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2) 11 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055) GGCCTCCCTCCCCCCCGCCCA 0.701000 8 14 0 0 1 0 0 PPIP5K2 23262 broad.mit.edu 37 5 102530646 102530646 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:102530646C>T ENST00000321521.9 + 29 4049 c.3476C>T c.(3475-3477)tCt>tTt p.S1159F PPIP5K2_ENST00000414217.1_Missense_Mutation_p.S1159F|PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000358359.3_Missense_Mutation_p.S1180F O43314 VIP2_HUMAN diphosphoinositol pentakisphosphate kinase 2 1180 inositol metabolic process cytosol acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 AAAAAAGTATCTTTAAATACG 0.368000 12 16 0 0 1 0 0 LYN 4067 broad.mit.edu 37 8 56912075 56912075 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:56912075G>A ENST00000520220.2 + 12 1514 c.1240G>A c.(1240-1242)Gaa>Aaa p.E414K LYN_ENST00000519728.1_Missense_Mutation_p.E435K NM_001111097.2 NP_001104567.1 P07948 LYN_HUMAN v-yes-1 Yamaguchi sarcoma viral related oncogene homolog 435 Protein kinase. erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 22 all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772) Epithelial(17;0.000834)|all cancers(17;0.00598) CCTCCTATACGAAATTGTCAC 0.403000 28 38 0 0 1 0 0 KCNJ16 3773 broad.mit.edu 37 17 68128775 68128775 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:68128775C>T ENST00000585558.1 + 4 1040 c.652C>T c.(652-654)Cgt>Tgt p.R218C KCNJ16_ENST00000586462.1_Missense_Mutation_p.R222C|KCNJ16_ENST00000392671.1_Missense_Mutation_p.R183C|KCNJ16_ENST00000283936.1_Missense_Mutation_p.R183C|KCNJ16_ENST00000392670.1_Missense_Mutation_p.R183C|KCNJ16_ENST00000589377.1_Missense_Mutation_p.R183C Q9NPI9 IRK16_HUMAN potassium inwardly-rectifying channel, subfamily J, member 16 183 synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 32 Breast(10;2.96e-09) CCAAACCATTCGTTTCAGCTA 0.463000 24 64 0 0 1 0 0 OTUD6A 139562 broad.mit.edu 37 X 69282986 69282986 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:69282986G>A ENST00000338352.2 + 1 646 c.612G>A c.(610-612)atG>atA p.M204I NM_207320.1 NP_997203.1 Q7L8S5 OTU6A_HUMAN OTU domain containing 6A 204 OTU. autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1) 23 ACGACTTCATGATCTACTGCG 0.622000 23 61 0 0 1 0 0 AJAP1 55966 broad.mit.edu 37 1 4834619 4834619 + Splice_Site SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:4834619G>A ENST00000378191.4 + 5 1676 c.e5+1 AJAP1_ENST00000378190.3_Splice_Site NM_018836.3 NP_061324.1 Q9UKB5 AJAP1_HUMAN adherens junctions associated protein 1 cell adhesion adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1) 24 all_cancers(77;0.071)|Ovarian(185;0.0721) all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215) Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689) CTGTTTCACGGTAGGTACCTC 0.537000 9 32 0 0 1 0 0 LRP8 7804 broad.mit.edu 37 1 53724084 53724084 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:53724084G>A ENST00000306052.6 - 14 2217 c.2116C>T c.(2116-2118)Cct>Tct p.P706S LRP8_ENST00000354412.3_Missense_Mutation_p.P577S|LRP8_ENST00000371454.2_Missense_Mutation_p.P706S|LRP8_ENST00000465675.1_Missense_Mutation_p.P259S|LRP8_ENST00000347547.2_Missense_Mutation_p.P536S|LRP8_ENST00000460214.1_5'UTR NM_004631.4 NP_004622.2 Q14114 LRP8_HUMAN low density lipoprotein receptor-related protein 8, apolipoprotein e receptor 706 cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis caveola calcium ion binding|very-low-density lipoprotein particle receptor activity endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1) 21 TGAGGAGCAGGAAGGCACAGG 0.557000 32 56 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132549425 132549425 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:132549425C>T ENST00000333577.4 + 49 8764 c.8655C>T c.(8653-8655)gcC>gcT p.A2885A EP400_ENST00000389561.2_Silent_p.A2849A|EP400_ENST00000330386.6_Silent_p.A2768A|EP400_ENST00000389562.2_Silent_p.A2848A|EP400_ENST00000332482.4_Silent_p.A2812A Q96L91 EP400_HUMAN E1A binding protein p400 2885 histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) TCCAGGTGGCCCGGCTCGTAA 0.592000 6 18 0 0 1 0 0 KIAA1024 23251 broad.mit.edu 37 15 79749651 79749651 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr15:79749651C>T ENST00000305428.3 + 2 1237 c.1162C>T c.(1162-1164)Ccc>Tcc p.P388S NM_015206.2 NP_056021.1 Q9UPX6 K1024_HUMAN KIAA1024 388 integral to membrane central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1) 49 CAATAGAAATCCCTCCGAGGA 0.512000 30 50 0 0 1 0 0 FHOD3 80206 broad.mit.edu 37 18 34340689 34340689 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr18:34340689C>T ENST00000257209.4 + 23 4141 c.4019C>T c.(4018-4020)tCc>tTc p.S1340F FHOD3_ENST00000359247.4_Missense_Mutation_p.S1323F|FHOD3_ENST00000591635.1_Missense_Mutation_p.S536F|FHOD3_ENST00000445677.1_Missense_Mutation_p.S1302F|FHOD3_ENST00000592128.1_Missense_Mutation_p.S319F|FHOD3_ENST00000590592.1_Missense_Mutation_p.S1523F NM_025135.2 NP_079411.2 Q2V2M9 FHOD3_HUMAN formin homology 2 domain containing 3 1323 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 90 all_epithelial(2;0.0181)|Colorectal(2;0.0195) TCGTCCCCCTCCGTGGAGGAC 0.672000 16 24 0 0 1 0 0 BEND2 139105 broad.mit.edu 37 X 18183239 18183239 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:18183239C>T ENST00000380033.4 - 14 2422 c.2290G>A c.(2290-2292)Gac>Aac p.D764N NM_153346.4 NP_699177.2 Q8NDZ0 BEND2_HUMAN BEN domain containing 2 764 BEN 2. NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1) 49 CTTCTGACGTCATGTCTAAGG 0.547000 104 140 0 0 1 0 0 TMEM88 92162 broad.mit.edu 37 17 7758820 7758820 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:7758820G>A ENST00000301599.6 + 2 278 c.268G>A c.(268-270)Gcc>Acc p.A90T TMEM88_ENST00000574668.1_Intron NM_203411.1 NP_981956.1 Q6PEY1 TMM88_HUMAN transmembrane protein 88 90 integral to membrane lung(1) 1 all_cancers(10;0.00528)|Prostate(122;0.202) CGGTTTCACGGCCCTACTGGT 0.687000 22 41 0 0 1 0 0 RASEF 158158 broad.mit.edu 37 9 85627420 85627420 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr9:85627420C>T ENST00000376447.3 - 5 1032 c.772G>A c.(772-774)Gaa>Aaa p.E258K NM_152573.2 NP_689786.2 Q8IZ41 RASEF_HUMAN RAS and EF-hand domain containing 258 protein transport|small GTPase mediated signal transduction perinuclear region of cytoplasm calcium ion binding|GTP binding NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 33 TTTGATTGTTCTTCGAGCTGA 0.318000 13 2 0 0 1 0 0 IQSEC3 440073 broad.mit.edu 37 12 247686 247686 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:247686C>T ENST00000538872.1 + 4 1275 c.1157C>T c.(1156-1158)tCc>tTc p.S386F IQSEC3_ENST00000382841.2_Missense_Mutation_p.S83F|IQSEC3_ENST00000326261.4_Missense_Mutation_p.S386F|RP11-598F7.4_ENST00000505893.2_RNA Q9UPP2 IQEC3_HUMAN IQ motif and Sec7 domain 3 386 regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031) OV - Ovarian serous cystadenocarcinoma(31;0.00456) LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179) CGCTCGCCCTCCCTGCCGCCC 0.701000 5 3 0 0 1 0 0 IL18RAP 8807 broad.mit.edu 37 2 103068477 103068477 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:103068477C>T ENST00000264260.2 + 12 2225 c.1636C>T c.(1636-1638)Cct>Tct p.P546S IL18RAP_ENST00000409369.1_Missense_Mutation_p.P404S NM_003853.2 NP_003844.1 O95256 I18RA_HUMAN interleukin 18 receptor accessory protein 546 TIR. cell surface receptor linked signaling pathway|inflammatory response|innate immune response integral to membrane transmembrane receptor activity autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4) 37 AAAATCAGTTCCTCCCAATTC 0.453000 60 84 0 0 1 0 0 COL5A1 1289 broad.mit.edu 37 9 137677851 137677851 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr9:137677851G>A ENST00000371817.3 + 31 3017 c.2603G>A c.(2602-2604)gGa>gAa p.G868E NM_000093.3|NM_001278074.1 NP_000084.3|NP_001265003.1 P20908 CO5A1_HUMAN collagen, type V, alpha 1 868 Triple-helical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 115 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) GGAAAACTCGGAGTCCCAGGG 0.567000 14 5 0 0 1 0 0 GLUD2 2747 broad.mit.edu 37 X 120182995 120182995 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:120182995C>T ENST00000328078.1 + 1 1534 c.1457C>T c.(1456-1458)cCc>cTc p.P486L NM_012084.3 NP_036216.2 P49448 DHE4_HUMAN glutamate dehydrogenase 2 486 glutamate biosynthetic process|glutamate catabolic process mitochondrial matrix ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1) 38 L-Glutamic Acid(DB00142)|NADH(DB00157) GGAACTATTCCCATTGTACCC 0.448000 56 85 0 0 1 0 0 SPECC1 92521 broad.mit.edu 37 17 20209360 20209360 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:20209360G>A ENST00000395530.2 + 12 3047 c.2839G>A c.(2839-2841)Gaa>Aaa p.E947K SPECC1_ENST00000261503.5_Missense_Mutation_p.E1028K|SPECC1_ENST00000536879.1_Missense_Mutation_p.E368K|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000395527.4_Missense_Mutation_p.E1028K NM_001033555.2 NP_001028727.1 Q5M775 CYTSB_HUMAN sperm antigen with calponin homology and coiled-coil domains 1 1028 nucleus breast(1)|large_intestine(3)|ovary(4) 8 KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196) GTTGGCATTTGAAGCGGCTGA 0.358000 30 46 0 0 1 0 0 PCDH11X 27328 broad.mit.edu 37 X 91873700 91873700 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:91873700C>T ENST00000373094.1 + 7 4650 c.3805C>T c.(3805-3807)Cgt>Tgt p.R1269C PCDH11X_ENST00000298274.8_Missense_Mutation_p.R1232C|PCDH11X_ENST00000373088.1_Missense_Mutation_p.R1232C|PCDH11X_ENST00000373097.1_Missense_Mutation_p.R1259C|PCDH11X_ENST00000406881.1_Missense_Mutation_p.R1261C|PCDH11X_ENST00000361655.2_Missense_Mutation_p.R1251C|PCDH11X_ENST00000504220.1_3'UTR NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 1269 homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 TGCCCTCCATCGTAGTCAGGC 0.552000 105 161 0 0 1 0 0 AMPH 273 broad.mit.edu 37 7 38462076 38462076 + Splice_Site SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:38462076G>A ENST00000356264.2 - 16 1432 c.1215_splice c.e16-1 p.P406_splice AMPH_ENST00000325590.5_Splice_Site_p.P406_splice|AMPH_ENST00000471913.1_5'UTR|AMPH_ENST00000428293.2_Splice_Site_p.P406_splice NM_001635.3 NP_001626.1 P49418 AMPH_HUMAN amphiphysin 406 endocytosis|synaptic transmission actin cytoskeleton|cell junction|synaptic vesicle membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2) 62 AGTATCCTGGGGCTGAAAATC 0.348000 54 83 0 0 1 0 0 CLGN 1047 broad.mit.edu 37 4 141313408 141313408 + Missense_Mutation SNP T T C TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr4:141313408T>C ENST00000325617.5 - 13 2056 c.1616A>G c.(1615-1617)gAa>gGa p.E539G CLGN_ENST00000537281.1_Missense_Mutation_p.E539G|CLGN_ENST00000414773.1_Missense_Mutation_p.E539G NM_004362.2 NP_004353.1 O14967 CLGN_HUMAN calmegin 539 protein folding endoplasmic reticulum membrane|integral to membrane calcium ion binding|unfolded protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1) 25 all_hematologic(180;0.162) TTGCTTTTTTTCCTCTTCCAG 0.373000 61 73 0 0 1 0 0 OR51Q1 390061 broad.mit.edu 37 11 5443499 5443499 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:5443499G>A ENST00000300778.4 + 1 159 c.69G>A c.(67-69)gaG>gaA p.E23E HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron NM_001004757.2 NP_001004757.1 Q8NH59 O51Q1_HUMAN olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene) 23 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 37 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CTGGATTTGAGGCCTCCCACA 0.507000 44 87 0 0 1 0 0 C1QA 712 broad.mit.edu 37 1 22965568 22965568 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:22965568G>A ENST00000374642.3 + 3 610 c.406G>A c.(406-408)Gtc>Atc p.V136I C1QA_ENST00000402322.1_Missense_Mutation_p.V136I NM_015991.2 NP_057075.1 P02745 C1QA_HUMAN complement component 1, q subcomponent, A chain 136 C1q. cell-cell signaling|complement activation, classical pathway|innate immune response collagen|complement component C1 complex autonomic_ganglia(1)|liver(1)|lung(3)|skin(1) 6 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197) Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072) CTTCGACACGGTCATCACCAA 0.602000 10 34 0 0 1 0 0 MMP16 4325 broad.mit.edu 37 8 89209496 89209496 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:89209496G>A ENST00000286614.6 - 2 453 c.172C>T c.(172-174)Ccc>Tcc p.P58S MMP16_ENST00000544227.1_5'UTR NM_005941.4 NP_005932.2 P51512 MMP16_HUMAN matrix metallopeptidase 16 (membrane-inserted) 58 collagen catabolic process|proteolysis cell surface|integral to plasma membrane|proteinaceous extracellular matrix calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 81 GACATTCTGGGGTCAGTCGGT 0.428000 18 39 0 0 1 0 0 CHRM2 1129 broad.mit.edu 37 7 136699661 136699661 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:136699661C>T ENST00000445907.2 + 3 577 c.49C>T c.(49-51)Cct>Tct p.P17S AC009264.1_ENST00000425981.2_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.P17S|CHRM2_ENST00000397608.3_Missense_Mutation_p.P17S|AC009264.1_ENST00000439694.1_RNA|AC009264.1_ENST00000586239.1_RNA|AC009264.1_ENST00000593789.1_RNA|AC009264.1_ENST00000597642.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.P17S|AC009264.1_ENST00000598184.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.P17S|AC009264.1_ENST00000592183.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.P17S NM_001006627.1|NM_001006629.1 NP_001006628.1|NP_001006630.1 P08172 ACM2_HUMAN cholinergic receptor, muscarinic 2 17 activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 68 Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508) TCTTACAAGTCCTTATAAGAC 0.393000 34 47 0 0 1 0 0 GREB1 9687 broad.mit.edu 37 2 11716512 11716512 + Missense_Mutation SNP A A G TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:11716512A>G ENST00000381486.2 + 5 788 c.488A>G c.(487-489)aAa>aGa p.K163R GREB1_ENST00000263834.5_Missense_Mutation_p.K163R|GREB1_ENST00000389825.3_Missense_Mutation_p.K53R|GREB1_ENST00000234142.5_Missense_Mutation_p.K163R|GREB1_ENST00000381483.2_Missense_Mutation_p.K163R NM_014668.3 NP_055483.2 Q4ZG55 GREB1_HUMAN growth regulation by estrogen in breast cancer 1 163 integral to membrane breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1) 30 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186) TGTGGAAAGAAAGGCTTCTGT 0.383000 44 104 0 0 1 0 0 KIR3DL3 115653 broad.mit.edu 37 19 55247519 55247519 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:55247519C>T ENST00000291860.1 + 8 1207 c.1189C>T c.(1189-1191)Cct>Tct p.P397S CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron NM_153443.3 NP_703144.2 Q8N743 KI3L3_HUMAN killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3 397 integral to membrane|plasma membrane receptor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(3)|prostate(1)|skin(1) 21 GBM - Glioblastoma multiforme(193;0.0192) AATCACTCGCCCTTCTCAGAG 0.507000 62 18 0 0 1 0 0 OR10V1 390201 broad.mit.edu 37 11 59480701 59480701 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:59480701G>A ENST00000307552.2 - 1 636 c.618C>T c.(616-618)atC>atT p.I206I NM_001005324.1 NP_001005324.1 Q8NGI7 O10V1_HUMAN olfactory receptor, family 10, subfamily V, member 1 206 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(3)|liver(1)|lung(10)|skin(1) 16 TGCTAAGGACGATGAAGCTGA 0.512000 35 58 0 0 1 0 0 PNMA5 114824 broad.mit.edu 37 X 152159281 152159281 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:152159281G>A ENST00000439251.1 - 2 1300 c.862C>T c.(862-864)Cgt>Tgt p.R288C PNMA5_ENST00000452693.1_Missense_Mutation_p.R288C|PNMA5_ENST00000361887.5_Missense_Mutation_p.R288C|PNMA5_ENST00000535214.1_Missense_Mutation_p.R288C NM_001103150.1 NP_001096620.1 Q96PV4 PNMA5_HUMAN paraneoplastic Ma antigen family member 5 288 apoptosis breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 Acute lymphoblastic leukemia(192;6.56e-05) TGTTTCAGACGAATCATGTCT 0.567000 55 69 0 0 1 0 0 GPRASP2 114928 broad.mit.edu 37 X 101969893 101969893 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:101969893C>T ENST00000543253.1 + 5 1015 c.96C>T c.(94-96)gtC>gtT p.V32V GPRASP2_ENST00000535209.1_Silent_p.V32V|GPRASP2_ENST00000332262.5_Silent_p.V32V NM_001004051.3|NM_001184874.2|NM_001184876.2 NP_001004051.1|NP_001171803.1|NP_001171805.1 G protein-coupled receptor associated sorting protein 2 breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 30 AGAATGATGTCCCTCTGGTGG 0.572000 78 96 0 0 1 0 0 STK36 27148 broad.mit.edu 37 2 219563820 219563820 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:219563820C>T ENST00000295709.3 + 26 3832 c.3553C>T c.(3553-3555)Cct>Tct p.P1185S STK36_ENST00000392105.3_Missense_Mutation_p.P1164S|STK36_ENST00000392106.2_Missense_Mutation_p.P1164S|STK36_ENST00000440309.1_Missense_Mutation_p.P1185S NM_015690.4 NP_056505.2 Q9NRP7 STK36_HUMAN serine/threonine kinase 36 1185 P -> S (in an ovarian endometrioid sample; somatic mutation). cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus ATP binding|protein serine/threonine kinase activity|transcription factor binding p.P1185S(1) biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 52 Renal(207;0.0915) Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984) CCAGGCTGGTCCTCTGGGACC 0.602000 20 12 0 0 1 0 0 OR14A16 284532 broad.mit.edu 37 1 247978452 247978452 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:247978452C>T ENST00000357627.1 - 1 579 c.580G>A c.(580-582)Gaa>Aaa p.E194K NM_001001966.1 NP_001001966.1 Q8NHC5 O14AG_HUMAN olfactory receptor, family 14, subfamily A, member 16 194 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1) 45 AGTGCAATTTCTCTTATTAAA 0.383000 44 19 0 0 1 0 0 PLXNA2 5362 broad.mit.edu 37 1 208315720 208315720 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:208315720G>A ENST00000367033.3 - 4 2217 c.1460C>T c.(1459-1461)gCc>gTc p.A487V NM_025179.3 NP_079455.3 O75051 PLXA2_HUMAN plexin A2 487 Sema. axon guidance integral to membrane|intracellular|plasma membrane NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3) 80 OV - Ovarian serous cystadenocarcinoma(81;0.199) AATGGAGAAGGCCATGTCCCG 0.532000 67 15 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7667304 7667304 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:7667304G>A ENST00000572933.1 + 19 4594 c.3134G>A c.(3133-3135)gGg>gAg p.G1045E DNAH2_ENST00000389173.2_Missense_Mutation_p.G1045E Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 1045 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) ATGGCTGCTGGGCGCCTCCTG 0.622000 26 48 0 0 1 0 0 ZBTB45 84878 broad.mit.edu 37 19 59028821 59028821 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:59028821C>T ENST00000594051.1 - 2 700 c.220G>A c.(220-222)Gtg>Atg p.V74M ZBTB45_ENST00000354590.3_Missense_Mutation_p.V74M|ZBTB45_ENST00000600990.1_Missense_Mutation_p.V74M Q96K62 ZBT45_HUMAN zinc finger and BTB domain containing 45 74 BTB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(3)|lung(5)|urinary_tract(1) 11 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18) GCGGGCACCACCGGAGGCACA 0.662000 OREG0025700 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 26 41 0 0 1 0 0 SQLE 6713 broad.mit.edu 37 8 126011789 126011789 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:126011789C>T ENST00000265896.5 + 1 1042 c.144C>T c.(142-144)caC>caT p.H48H SQLE_ENST00000523430.1_Intron NM_003129.3 NP_003120.2 Q14534 ERG1_HUMAN squalene epoxidase 48 cholesterol biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome flavin adenine dinucleotide binding|squalene monooxygenase activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1) 14 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205) Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857) GCTGTCGCCACCGAAACGGGG 0.612000 7 24 0 0 1 0 0 BCAT1 586 broad.mit.edu 37 12 24995058 24995058 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:24995058C>T ENST00000261192.7 - 7 1301 c.775G>A c.(775-777)Gga>Aga p.G259R BCAT1_ENST00000544418.1_5'UTR|BCAT1_ENST00000539282.1_Missense_Mutation_p.G271R|BCAT1_ENST00000538118.1_Missense_Mutation_p.G258R|BCAT1_ENST00000539780.1_Missense_Mutation_p.G222R|BCAT1_ENST00000342945.5_Missense_Mutation_p.G198R NM_001178091.1|NM_005504.6 NP_001171562.1|NP_005495.2 P54687 BCAT1_HUMAN branched chain amino-acid transaminase 1, cytosolic 259 branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle cytosol L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity breast(1)|large_intestine(1)|lung(3)|prostate(2) 7 Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196) Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114) TTCATAGTTCCCACTTCAGTG 0.423000 5 24 0 0 1 0 0 SELE 6401 broad.mit.edu 37 1 169701074 169701074 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:169701074G>A ENST00000333360.7 - 4 570 c.431C>T c.(430-432)aCc>aTc p.T144I SELE_ENST00000461085.1_5'UTR|SELE_ENST00000367777.1_Missense_Mutation_p.T144I|SELE_ENST00000367780.4_Missense_Mutation_p.T144I|SELE_ENST00000367781.4_Missense_Mutation_p.T144I|SELE_ENST00000367774.1_Missense_Mutation_p.T144I|SELE_ENST00000367776.1_Missense_Mutation_p.T144I|SELE_ENST00000367779.4_Missense_Mutation_p.T144I|SELE_ENST00000367782.4_Missense_Mutation_p.T144I|SELE_ENST00000367775.1_Missense_Mutation_p.T144I|C1orf112_ENST00000498289.1_Intron NM_000450.2 NP_000441.2 P16581 LYAM2_HUMAN selectin E 144 EGF-like. actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 all_hematologic(923;0.208) GGATGTATTGGTACAGGCAGC 0.443000 14 20 0 0 1 0 0 TFAP2D 83741 broad.mit.edu 37 6 50718994 50718994 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr6:50718994C>T ENST00000008391.3 + 7 1324 c.1096C>T c.(1096-1098)Cca>Tca p.P366S NM_172238.3 NP_758438.2 Q7Z6R9 AP2D_HUMAN transcription factor AP-2 delta (activating enhancer binding protein 2 delta) 366 H-S-H (helix-span-helix), dimerization. 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) CAGACCCACTCCAATTCTAGA 0.373000 5 48 0 0 1 0 0 NCOR1 9611 broad.mit.edu 37 17 15938100 15938100 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:15938100C>T ENST00000268712.3 - 45 7371 c.7114G>A c.(7114-7116)Gaa>Aaa p.E2372K NCOR1_ENST00000395857.3_Missense_Mutation_p.E956K|NCOR1_ENST00000395851.1_Missense_Mutation_p.E2269K NM_006311.3 NP_006302.2 O75376 NCOR1_HUMAN nuclear receptor corepressor 1 2372 Interaction with C1D (By similarity). cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10) 107 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) GGCCTGTCTTCCCAGGCCCAC 0.458000 39 59 0 0 1 0 0 KDR 3791 broad.mit.edu 37 4 55955873 55955873 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr4:55955873C>T ENST00000263923.4 - 24 3584 c.3289G>A c.(3289-3291)Gaa>Aaa p.E1097K RP11-530I17.1_ENST00000511222.1_RNA NM_002253.2 NP_002244.1 P35968 VGFR2_HUMAN kinase insert domain receptor (a type III receptor tyrosine kinase) 1097 Protein kinase. angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) GAAAATATTTCCCACAGCAAA 0.423000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 24 76 0 0 1 0 0 KCNH5 27133 broad.mit.edu 37 14 63269170 63269170 + Nonsense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr14:63269170G>A ENST00000322893.7 - 9 1967 c.1699C>T c.(1699-1701)Caa>Taa p.Q567* KCNH5_ENST00000394968.1_Nonsense_Mutation_p.Q509*|KCNH5_ENST00000420622.2_Nonsense_Mutation_p.Q567* NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 567 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) TGAATGGTTTGGAACTCTACC 0.507000 23 49 0 0 1 0 0 CHST5 23563 broad.mit.edu 37 16 75563191 75563191 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr16:75563191G>A ENST00000336257.3 - 3 2486 c.1092C>T c.(1090-1092)atC>atT p.I364I RP11-77K12.7_ENST00000460606.1_3'UTR|CHST5_ENST00000541075.1_Silent_p.I370I NM_024533.4 NP_078809.2 Q9GZS9 CHST5_HUMAN carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 364 N-acetylglucosamine metabolic process|protein sulfation integral to membrane|intrinsic to Golgi membrane N-acetylglucosamine 6-O-sulfotransferase activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2) 24 GCACGCGCAGGATCTTAGTGA 0.657000 22 48 0 0 1 0 0 SLC12A9 56996 broad.mit.edu 37 7 100452246 100452246 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:100452246C>T ENST00000354161.3 + 3 311 c.186C>T c.(184-186)ttC>ttT p.F62F SLC12A9_ENST00000428758.1_Silent_p.F62F|SLC12A9_ENST00000540482.1_Silent_p.F62F|SLC12A9_ENST00000275729.3_Intron|SLC12A9_ENST00000415287.1_Intron NM_020246.3 NP_064631.2 Q9BXP2 S12A9_HUMAN solute carrier family 12, member 9 62 integral to membrane|plasma membrane cation:chloride symporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 41 Lung NSC(181;0.041)|all_lung(186;0.0581) CCTCAGGGTTCGTGGTGGGTC 0.607000 37 56 0 0 1 0 0 CCDC43 124808 broad.mit.edu 37 17 42756379 42756379 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:42756379G>A ENST00000315286.8 - 5 528 c.520C>T c.(520-522)Ctt>Ttt p.L174F CCDC43_ENST00000457422.2_Missense_Mutation_p.P154L|CCDC43_ENST00000588210.1_Missense_Mutation_p.L177F|C17orf104_ENST00000588805.1_3'UTR NM_144609.2 NP_653210.2 Q96MW1 CCD43_HUMAN coiled-coil domain containing 43 174 L -> F (in Ref. 1; BAB71162). lung(2) 2 Prostate(33;0.0322) CGGGCATTAAGGACATCTTCC 0.488000 12 24 0 0 1 0 0 ZNF416 55659 broad.mit.edu 37 19 58084505 58084505 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:58084505G>A ENST00000196489.3 - 4 989 c.767C>T c.(766-768)tCc>tTc p.S256F NM_017879.1 NP_060349.1 Q9BWM5 ZN416_HUMAN zinc finger protein 416 256 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1) 22 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259) CTGAACAAGGGAGCACTCACA 0.468000 66 79 0 0 1 0 0 ARPP21 10777 broad.mit.edu 37 3 35724377 35724377 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:35724377C>T ENST00000187397.4 + 4 623 c.167C>T c.(166-168)tCc>tTc p.S56F ARPP21_ENST00000458225.1_Missense_Mutation_p.S56F|ARPP21_ENST00000444190.1_Missense_Mutation_p.S56F|ARPP21_ENST00000438071.1_Missense_Mutation_p.S56F|ARPP21_ENST00000432682.1_Missense_Mutation_p.S56F|ARPP21_ENST00000396482.2_Missense_Mutation_p.S56F|ARPP21_ENST00000412048.1_Missense_Mutation_p.S56F|ARPP21_ENST00000428373.1_Missense_Mutation_p.S56F|ARPP21_ENST00000337271.5_Missense_Mutation_p.S56F|ARPP21_ENST00000441454.1_Missense_Mutation_p.S56F|ARPP21_ENST00000396481.2_Missense_Mutation_p.S56F|ARPP21_ENST00000417925.1_Missense_Mutation_p.S56F|ARPP21_ENST00000474696.1_Missense_Mutation_p.S56F|ARPP21_ENST00000427542.1_Missense_Mutation_p.S56F|ARPP21_ENST00000436702.1_Missense_Mutation_p.S56F NM_016300.4 NP_057384.2 Q9UBL0 ARP21_HUMAN cAMP-regulated phosphoprotein, 21kDa 56 cytoplasm nucleic acid binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 61 AGAAGAAAATCCAAGGTAGGG 0.328000 14 43 0 0 1 0 0 SCN11A 11280 broad.mit.edu 37 3 38938499 38938499 + Missense_Mutation SNP C C A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:38938499C>A ENST00000302328.3 - 14 2438 c.2240G>T c.(2239-2241)cGg>cTg p.R747L SCN11A_ENST00000444237.2_Missense_Mutation_p.R747L|SCN11A_ENST00000456224.3_Missense_Mutation_p.R747L|SCN11A_ENST00000450244.1_Missense_Mutation_p.R747L NM_014139.2 NP_054858.2 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 747 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) GTGCCAGTGCCGTAAACATGA 0.493000 19 35 4.96729e-08 5.00323e-08 1 1 0 ARMC4 55130 broad.mit.edu 37 10 28149713 28149713 + Silent SNP C C T rs145155399 by1000genomes TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:28149713C>T ENST00000305242.5 - 19 2954 c.2862G>A c.(2860-2862)agG>agA p.R954R ARMC4_ENST00000545014.1_Silent_p.R479R|ARMC4_ENST00000537576.1_Silent_p.R646R NM_018076.2 NP_060546.2 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 954 binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3) 75 CCACTCTATTCCTGCCCCACA 0.463000 24 39 0 0 1 0 0 PCDHA9 9752 broad.mit.edu 37 5 140229624 140229624 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:140229624G>A ENST00000378122.3 + 1 2268 c.1544G>A c.(1543-1545)gGc>gAc p.G515D PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.G515D|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron NM_014005.3 NP_054724.1 breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 59 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGGAGAGCGGCAAGGTGTAC 0.692000 62 104 0 0 1 0 0 TEAD4 7004 broad.mit.edu 37 12 3149531 3149531 + Splice_Site SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:3149531G>A ENST00000359864.2 + 13 1382 c.1191_splice c.e13-1 p.V398_splice TEAD4_ENST00000358409.2_Splice_Site_p.V355_splice|TEAD4_ENST00000397122.2_Splice_Site_p.V269_splice NM_003213.3 NP_003204.2 Q15561 TEAD4_HUMAN TEA domain family member 4 398 hippo signaling cascade|muscle organ development|skeletal system development DNA binding|protein binding|sequence-specific DNA binding transcription factor activity endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1) 10 Ovarian(42;0.211) OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831) TCTCCCACAGGTGGTCACCAA 0.577000 18 30 0 0 1 0 0 C9orf41 138199 broad.mit.edu 37 9 77631274 77631274 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr9:77631274C>T ENST00000376834.3 - 3 652 c.500G>A c.(499-501)aGa>aAa p.R167K C9orf41_ENST00000376837.3_Missense_Mutation_p.R167K NM_152420.1 NP_689633.1 Q8N4J0 CI041_HUMAN chromosome 9 open reading frame 41 167 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|urinary_tract(2) 17 ACTCCAGTCTCTCACAAACTG 0.358000 93 32 0 0 1 0 0 HSD17B4 3295 broad.mit.edu 37 5 118809645 118809645 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:118809645C>T ENST00000504811.1 + 4 414 c.230C>T c.(229-231)tCc>tTc p.S77F HSD17B4_ENST00000414835.2_5'UTR|HSD17B4_ENST00000515320.1_Missense_Mutation_p.S34F|HSD17B4_ENST00000256216.6_Missense_Mutation_p.S52F|HSD17B4_ENST00000510025.1_Missense_Mutation_p.S28F NM_001199291.1 NP_001186220.1 P51659 DHB4_HUMAN hydroxysteroid (17-beta) dehydrogenase 4 52 (3R)-hydroxyacyl-CoA dehydrogenase. bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase peroxisomal matrix 3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2) 25 all_cancers(142;0.0206)|Prostate(80;0.0322) OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122) NADH(DB00157) GGTAAAGGCTCCTTAGCTGCT 0.363000 7 19 0 0 1 0 0 ZXDA 7789 broad.mit.edu 37 X 57935882 57935882 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:57935882C>T ENST00000358697.4 - 1 1185 c.973G>A c.(973-975)Gat>Aat p.D325N NM_007156.4 NP_009087.1 P98168 ZXDA_HUMAN zinc finger, X-linked, duplicated A 325 Required for interaction with ZXDC. positive regulation of transcription, DNA-dependent nucleus C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1) 37 CGCAGTTTATCGTGCGACTGC 0.622000 18 24 0 0 1 0 0 GABRA2 2555 broad.mit.edu 37 4 46264115 46264115 + Missense_Mutation SNP A A T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr4:46264115A>T ENST00000510861.1 - 9 1060 c.887T>A c.(886-888)cTa>cAa p.L296Q GABRA2_ENST00000356504.1_Missense_Mutation_p.L296Q|GABRA2_ENST00000381620.4_Missense_Mutation_p.L296Q|GABRA2_ENST00000540012.1_Missense_Mutation_p.L241Q|GABRA2_ENST00000515082.1_Missense_Mutation_p.L296Q|GABRA2_ENST00000507069.1_Missense_Mutation_p.L296Q|GABRA2_ENST00000514090.1_Missense_Mutation_p.L296Q P47869 GBRA2_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 2 296 gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 56 Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) ACTGATGCTTAGAGTTGTCAT 0.418000 12 42 0 0 1 0 0 URAD 646625 broad.mit.edu 37 13 28562674 28562674 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr13:28562674G>A ENST00000332715.4 - 1 100 c.101C>T c.(100-102)tCc>tTc p.S34F NM_001105577.1 NP_001099047.1 ureidoimidazoline (2-oxo-4-hydroxy-4-carboxy-5-) decarboxylase TGGCCGCTGGGACCAAACAGC 0.468000 24 43 0 0 1 0 0 PCDHGA2 56113 broad.mit.edu 37 5 140718777 140718777 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:140718777G>A ENST00000394576.2 + 1 239 c.239G>A c.(238-240)cGa>cAa p.R80Q PCDHGA1_ENST00000517417.1_Intron NM_018915.2 NP_061738.1 breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGAACCCGCGAAGCGGCAGC 0.572000 28 69 0 0 1 0 0 TTC39B 158219 broad.mit.edu 37 9 15190562 15190562 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr9:15190562G>A ENST00000355694.2 - 11 1131 c.897C>T c.(895-897)tcC>tcT p.S299S TTC39B_ENST00000512701.1_Silent_p.S365S|TTC39B_ENST00000380850.4_Silent_p.S365S|TTC39B_ENST00000507285.1_Silent_p.S200S|TTC39B_ENST00000297615.5_Silent_p.S296S|TTC39B_ENST00000541445.1_3'UTR|TTC39B_ENST00000507993.1_Silent_p.S200S NM_001168339.1|NM_152574.2 NP_001161811.1|NP_689787.2 Q5VTQ0 TT39B_HUMAN tetratricopeptide repeat domain 39B 299 binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1) 21 CAAGTATTAGGGAGATGTAAG 0.453000 19 11 0 0 1 0 0 TUBAL3 79861 broad.mit.edu 37 10 5442963 5442963 + Nonsense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:5442963G>A ENST00000380419.3 - 2 128 c.91C>T c.(91-93)Cag>Tag p.Q31* TUBAL3_ENST00000479328.1_Intron NM_024803.2 NP_079079.1 A6NHL2 TBAL3_HUMAN tubulin, alpha-like 3 31 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3) 25 CCATTTGGCTGGATTCCATGT 0.473000 50 103 0 0 1 0 0 DPRX 503834 broad.mit.edu 37 19 54137815 54137815 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:54137815G>A ENST00000376650.1 + 2 110 c.59G>A c.(58-60)cGa>cAa p.R20Q NM_001012728.1 NP_001012746.1 A6NFQ7 DPRX_HUMAN divergent-paired related homeobox 20 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(4)|large_intestine(1)|lung(7) 12 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.013) CACAGGAAACGAACCATGTTC 0.433000 62 85 0 0 1 0 0 MYO3B 140469 broad.mit.edu 37 2 171248046 171248046 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:171248046C>T ENST00000334231.6 + 15 1621 c.1621C>T c.(1621-1623)Cat>Tat p.H541Y MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Missense_Mutation_p.H532Y|MYO3B_ENST00000408978.4_Missense_Mutation_p.H532Y Q8WXR4 MYO3B_HUMAN myosin IIIB 532 Myosin head-like. response to stimulus|visual perception cytoplasm|myosin complex actin binding|ATP binding|motor activity|protein serine/threonine kinase activity breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 59 GAAAAATTTTCATATATTTTA 0.348000 6 21 0 0 1 0 0 TNRC6B 23112 broad.mit.edu 37 22 40662488 40662488 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr22:40662488G>A ENST00000454349.2 + 5 2465 c.2254G>A c.(2254-2256)Gaa>Aaa p.E752K TNRC6B_ENST00000402203.1_Intron|TNRC6B_ENST00000335727.8_Missense_Mutation_p.E752K|TNRC6B_ENST00000301923.9_Intron NM_001162501.1 NP_001155973.1 Q9UPQ9 TNR6B_HUMAN trinucleotide repeat containing 6B 752 gene silencing by RNA|regulation of translation cytoplasmic mRNA processing body nucleotide binding|RNA binding breast(1) 1 TTGGGGGGAGGAAGTCGATCA 0.517000 9 24 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179489447 179489447 + Nonsense_Mutation SNP C C A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:179489447C>A ENST00000589042.1 - 242 44784 c.44560G>T c.(44560-44562)Gaa>Taa p.E14854* TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.E12286*|TTN_ENST00000591111.1_Nonsense_Mutation_p.E13213*|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.E5914*|TTN_ENST00000342175.6_Nonsense_Mutation_p.E5981*|TTN_ENST00000460472.2_Nonsense_Mutation_p.E5789*|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 13213 Fibronectin type-III 7. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTAGTGAATTCAACTGGGGGT 0.483000 23 32 1.39806e-14 1.42016e-14 1 1 0 SIGLEC9 27180 broad.mit.edu 37 19 51631689 51631689 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:51631689G>A ENST00000440804.3 + 6 1192 c.1125G>A c.(1123-1125)aaG>aaA p.K375K SIGLEC9_ENST00000250360.3_Silent_p.K375K NM_001198558.1 NP_001185487.1 Q9Y336 SIGL9_HUMAN sialic acid binding Ig-like lectin 9 375 cell adhesion|cell surface receptor linked signaling pathway integral to plasma membrane sugar binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 45 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295) CCTGCAGGAAGAAATCGGCAA 0.577000 13 40 0 0 1 0 0 NLRP4 147945 broad.mit.edu 37 19 56373416 56373416 + Nonsense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:56373416C>T ENST00000301295.6 + 5 2499 c.2077C>T c.(2077-2079)Cag>Tag p.Q693* NLRP4_ENST00000587891.1_Nonsense_Mutation_p.Q618*|NLRP4_ENST00000346986.5_Nonsense_Mutation_p.Q693* NM_134444.4 NP_604393.2 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 693 ATP binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) GCTCTTTTATCAGCCAGACTT 0.433000 36 66 0 0 1 0 0 HOXB4 3214 broad.mit.edu 37 17 46655603 46655603 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:46655603C>T ENST00000332503.5 - 1 1870 c.79G>A c.(79-81)Gat>Aat p.D27N HOXB3_ENST00000552000.2_Intron|HOXB3_ENST00000472863.1_Intron|HOXB3_ENST00000476342.1_Intron|HOXB3_ENST00000460160.1_Intron|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000498678.1_Intron|HOXB3_ENST00000489475.1_Intron|HOXB3_ENST00000465120.3_Intron NM_024015.4 NP_076920.1 P17483 HXB4_HUMAN homeobox B4 27 Pro-rich (part of the transcriptional activation domain). nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2) 9 GGTAGGTAATCGCTCTGTGAA 0.582000 20 20 0 0 1 0 0 MYO10 4651 broad.mit.edu 37 5 16701600 16701600 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:16701600G>A ENST00000513610.1 - 25 3358 c.2904C>T c.(2902-2904)tcC>tcT p.S968S MYO10_ENST00000515803.1_Silent_p.S307S|MYO10_ENST00000505695.1_Silent_p.S307S|MYO10_ENST00000427430.2_Silent_p.S325S|MYO10_ENST00000274203.9_Silent_p.S325S NM_012334.2 NP_036466.2 Q9HD67 MYO10_HUMAN myosin X 968 axon guidance|signal transduction myosin complex actin binding|ATP binding|motor activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 86 CCAGCTCGCTGGAAAATTCGC 0.607000 16 32 0 0 1 0 0 LRRC4C 57689 broad.mit.edu 37 11 40137317 40137317 + Nonsense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:40137317G>A ENST00000278198.2 - 2 2489 c.526C>T c.(526-528)Cga>Tga p.R176* LRRC4C_ENST00000527150.1_Nonsense_Mutation_p.R176*|LRRC4C_ENST00000528697.1_Nonsense_Mutation_p.R176*|LRRC4C_ENST00000530763.1_Nonsense_Mutation_p.R176* Q9HCJ2 LRC4C_HUMAN leucine rich repeat containing 4C 176 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) AAGTCTAGTCGGCGCAAAGAA 0.423000 34 47 0 0 1 0 0 EPHB1 2047 broad.mit.edu 37 3 134670708 134670708 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:134670708C>T ENST00000398015.3 + 3 989 c.619C>T c.(619-621)Cca>Tca p.P207S EPHB1_ENST00000488154.1_Intron NM_004441.4 NP_004432.1 P54762 EPHB1_HUMAN EPH receptor B1 207 Cys-rich. integral to plasma membrane ATP binding|ephrin receptor activity|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 130 TGCAGTGTTTCCAGAGACTAT 0.488000 71 125 0 0 1 0 0 ZNF665 79788 broad.mit.edu 37 19 53668207 53668207 + Silent SNP T T C TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:53668207T>C ENST00000600412.1 - 2 1456 c.1341A>G c.(1339-1341)aaA>aaG p.K447K ZNF665_ENST00000396424.3_Silent_p.K512K Q9H7R5 ZN665_HUMAN zinc finger protein 665 447 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 35 GBM - Glioblastoma multiforme(134;0.0196) ACTTGTAAGGTTTTTCTCCAG 0.378000 49 73 0 0 1 0 0 SGOL1 151648 broad.mit.edu 37 3 20225107 20225107 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:20225107G>A ENST00000412997.1 - 3 683 c.332C>T c.(331-333)cCt>cTt p.P111L SGOL1_ENST00000383774.1_Missense_Mutation_p.P111L|SGOL1_ENST00000425061.1_Missense_Mutation_p.P111L|SGOL1_ENST00000452020.1_Missense_Mutation_p.P111L|SGOL1_ENST00000443724.1_Missense_Mutation_p.P111L|SGOL1_ENST00000412868.1_Missense_Mutation_p.P111L|SGOL1_ENST00000263753.4_Missense_Mutation_p.P111L|SGOL1_ENST00000442720.1_Missense_Mutation_p.P111L|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000429446.3_Missense_Mutation_p.P111L|SGOL1_ENST00000417364.1_Missense_Mutation_p.P111L|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000437051.1_Missense_Mutation_p.P111L|SGOL1_ENST00000419233.2_Missense_Mutation_p.P111L|SGOL1_ENST00000306698.2_Missense_Mutation_p.P111L|SGOL1_ENST00000421451.1_Missense_Mutation_p.P111L NM_001199251.1 NP_001186180.1 Q5FBB7 SGOL1_HUMAN shugoshin-like 1 (S. pombe) 111 Necessary for interaction with PPP2CA and PPP2R1A. attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole protein binding kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2) 14 TACCTGAGCAGGTTCTACTGT 0.328000 32 50 0 0 1 0 0 DISP2 85455 broad.mit.edu 37 15 40657438 40657438 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr15:40657438G>A ENST00000267889.3 + 6 897 c.810G>A c.(808-810)gaG>gaA p.E270E NM_033510.1 NP_277045.1 A7MBM2 DISP2_HUMAN dispatched homolog 2 (Drosophila) 270 smoothened signaling pathway integral to membrane breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4) 30 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247) AGCCCCTGGAGGACAGAAGGC 0.607000 22 45 0 0 1 0 0 CCDC67 159989 broad.mit.edu 37 11 93088609 93088609 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:93088609G>A ENST00000298050.3 + 3 202 c.102G>A c.(100-102)atG>atA p.M34I CCDC67_ENST00000527307.1_Missense_Mutation_p.M34I|CCDC67_ENST00000530053.1_3'UTR NM_181645.3 NP_857596.2 Q05D60 CCD67_HUMAN coiled-coil domain containing 67 34 endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824) ACAAGAAAATGGATTGGGAAA 0.403000 13 36 0 0 1 0 0 ITIH2 3698 broad.mit.edu 37 10 7777003 7777003 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:7777003G>A ENST00000358415.4 + 15 2072 c.1906G>A c.(1906-1908)Gat>Aat p.D636N ITIH2_ENST00000379587.4_Missense_Mutation_p.D625N NM_002216.2 NP_002207.2 P19823 ITIH2_HUMAN inter-alpha-trypsin inhibitor heavy chain 2 636 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 CGAGGCTGGGGATGAGCGCAT 0.607000 16 31 0 0 1 0 0 C8B 732 broad.mit.edu 37 1 57415395 57415395 + Missense_Mutation SNP C C G TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:57415395C>G ENST00000543257.1 - 7 1107 c.541G>C c.(541-543)Gag>Cag p.E181Q C8B_ENST00000535057.1_Missense_Mutation_p.E171Q|C8B_ENST00000371237.4_Missense_Mutation_p.E233Q NM_001278543.1 NP_001265472.1 P07358 CO8B_HUMAN complement component 8, beta polypeptide 233 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis membrane attack complex breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 52 GATTCATACTCTTTTAATATG 0.328000 10 13 0 0 1 0 0 MED12 9968 broad.mit.edu 37 X 70349586 70349586 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:70349586C>T ENST00000333646.6 + 27 3947 c.3748C>T c.(3748-3750)Cca>Tca p.P1250S MED12_ENST00000374102.1_Missense_Mutation_p.P1250S|MED12_ENST00000374080.3_Missense_Mutation_p.P1250S NM_005120.2 NP_005111.2 Q93074 MED12_HUMAN mediator complex subunit 12 1250 androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3) 420 Renal(35;0.156) AGAAGAACTTCCAGAGGAGGA 0.577000 """M, S""" uterine leiomyoma Opitz-Kaveggia Syndrome OREG0019857 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 10 0 0 1 0 0 ATP11C 286410 broad.mit.edu 37 X 138819939 138819939 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:138819939G>A ENST00000359686.2 - 29 3412 c.3314C>T c.(3313-3315)tCc>tTc p.S1105F ATP11C_ENST00000370557.1_Intron|ATP11C_ENST00000370543.1_Intron|ATP11C_ENST00000460773.1_Intron|ATP11C_ENST00000327569.3_Intron|ATP11C_ENST00000361648.2_Intron Q8NB49 AT11C_HUMAN ATPase, class VI, type 11C 0 ATP biosynthetic process integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3) 75 Acute lymphoblastic leukemia(192;0.000127) TGCAGAAGAGGAAATTAAGTG 0.373000 4 10 0 0 1 0 0 FAT2 2196 broad.mit.edu 37 5 150886943 150886943 + Missense_Mutation SNP C C A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:150886943C>A ENST00000261800.5 - 22 12301 c.12289G>T c.(12289-12291)Gcc>Tcc p.A4097S NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 4097 epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GCAGGCATGGCTTGGGTGTCA 0.577000 37 45 1.60099e-16 1.62927e-16 1 1 0 ROR1 4919 broad.mit.edu 37 1 64608210 64608210 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:64608210C>T ENST00000371079.1 + 7 1426 c.1051C>T c.(1051-1053)Cgt>Tgt p.R351C ROR1_ENST00000371080.1_Missense_Mutation_p.R351C|ROR1_ENST00000545203.1_5'UTR|RP11-24J23.2_ENST00000424995.1_RNA NM_005012.3 NP_005003.2 Q01973 ROR1_HUMAN receptor tyrosine kinase-like orphan receptor 1 351 Kringle. transmembrane receptor protein tyrosine kinase signaling pathway cytoplasm|integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding p.R351C(1) breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 51 CACCGCCCTTCGTTTCCCAGA 0.547000 37 27 0 0 1 0 0 KIF21A 55605 broad.mit.edu 37 12 39763621 39763621 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:39763621G>A ENST00000395670.3 - 3 779 c.360C>T c.(358-360)caC>caT p.H120H KIF21A_ENST00000541463.2_Silent_p.H120H|KIF21A_ENST00000361418.5_Silent_p.H120H|KIF21A_ENST00000361961.3_Silent_p.H120H|KIF21A_ENST00000544797.2_Silent_p.H120H Q7Z4S6 KI21A_HUMAN kinesin family member 21A 120 Kinesin-motor. 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) TCTTAAAAAGGTGTTTAACAG 0.348000 19 30 0 0 1 0 0 NSUN5P1 155400 broad.mit.edu 37 7 75044200 75044200 + RNA SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:75044200C>T ENST00000393633.2 + 0 3464 large_intestine(1)|lung(1) 2 GAAGCATTTTCTCCTGGACTC 0.542000 16 38 0 0 1 0 0 ACTN1 87 broad.mit.edu 37 14 69343912 69343912 + Missense_Mutation SNP G G T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr14:69343912G>T ENST00000193403.6 - 20 2790 c.2407C>A c.(2407-2409)Cgc>Agc p.R803S ACTN1_ENST00000438964.2_Missense_Mutation_p.R798S|ACTN1_ENST00000538545.2_Missense_Mutation_p.R798S|ACTN1_ENST00000376839.3_Missense_Mutation_p.R733S|ACTN1_ENST00000394419.4_Missense_Mutation_p.R825S NM_001102.3 NP_001093.1 P12814 ACTN1_HUMAN actinin, alpha 1 803 EF-hand 2. focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere actin binding|calcium ion binding|integrin binding|vinculin binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1) 27 BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654) ACCCCCAGGCGGTTGGGGTCC 0.557000 19 47 3.62473e-10 3.65979e-10 1 1 0 PPIF 10105 broad.mit.edu 37 10 81113532 81113532 + Silent SNP T T A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:81113532T>A ENST00000225174.3 + 6 629 c.558T>A c.(556-558)tcT>tcA p.S186S PPIF_ENST00000394579.3_3'UTR NM_005729.3 NP_005720.1 P30405 PPIF_HUMAN peptidylprolyl isomerase F 186 PPIase cyclophilin-type. protein folding membrane fraction|mitochondrial matrix peptidyl-prolyl cis-trans isomerase activity endometrium(2)|lung(2)|skin(2) 6 all_cancers(46;0.0893)|Breast(12;8.52e-05)|all_epithelial(25;0.00449)|Prostate(51;0.00985) Epithelial(14;0.00242)|all cancers(16;0.0069)|Colorectal(32;0.229) Dimethyl sulfoxide(DB01093)|L-Proline(DB00172) AAATAGAATCTTTCGGCTCTA 0.537000 35 39 0 0 1 0 0 SVEP1 79987 broad.mit.edu 37 9 113168896 113168896 + Nonsense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr9:113168896C>T ENST00000401783.2 - 38 9320 c.8984G>A c.(8983-8985)tGg>tAg p.W2995* SVEP1_ENST00000374469.1_Nonsense_Mutation_p.W2972*|SVEP1_ENST00000297826.5_Nonsense_Mutation_p.W921* NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 2995 Sushi 26. cell adhesion cytoplasm|extracellular region|membrane calcium ion binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 GCTGCCACTCCAGGAGCCATT 0.473000 25 17 0 0 1 0 0 RBKS 64080 broad.mit.edu 37 2 28004519 28004519 + Missense_Mutation SNP T T G TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:28004519T>G ENST00000302188.3 - 8 1684 c.932A>C c.(931-933)tAc>tCc p.Y311S AC110084.1_ENST00000601759.1_Intron NM_022128.1 NP_071411.1 Q9H477 RBSK_HUMAN ribokinase 311 D-ribose metabolic process ATP binding|ribokinase activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 7 Acute lymphoblastic leukemia(172;0.155) TTTGTAAGGGTAAGATGACTG 0.433000 45 52 0 0 1 0 0 BCKDK 10295 broad.mit.edu 37 16 31120611 31120611 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr16:31120611C>T ENST00000394951.1 + 3 690 c.67C>T c.(67-69)Ccc>Tcc p.P23S BCKDK_ENST00000287507.3_Missense_Mutation_p.P23S|BCKDK_ENST00000219794.6_Missense_Mutation_p.P23S|AC135050.1_ENST00000517000.2_RNA|BCKDK_ENST00000394950.3_Missense_Mutation_p.P23S O14874 BCKD_HUMAN branched chain ketoacid dehydrogenase kinase 23 branched chain family amino acid catabolic process|peptidyl-histidine phosphorylation mitochondrial alpha-ketoglutarate dehydrogenase complex [3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity|ATP binding|protein binding|protein serine/threonine kinase activity|two-component sensor activity breast(1)|stomach(1) 2 CCTCCTGGGACCCGCACTCGC 0.692000 8 11 0 0 1 0 0 SLC27A1 376497 broad.mit.edu 37 19 17597622 17597622 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:17597622G>A ENST00000252595.7 + 2 515 c.418G>A c.(418-420)Gag>Aag p.E140K SLC27A1_ENST00000598424.1_5'UTR|SLC27A1_ENST00000442725.1_Missense_Mutation_p.E140K NM_198580.1 NP_940982.1 Q6PCB7 S27A1_HUMAN solute carrier family 27 (fatty acid transporter), member 1 140 cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport endomembrane system|integral to membrane fatty acid transporter activity|nucleotide binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 GGGCCGGCCGGAGTTCGTGGG 0.711000 6 9 0 0 1 0 0 RGS11 8786 broad.mit.edu 37 16 320798 320798 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr16:320798C>T ENST00000397770.3 - 14 1029 c.1012G>A c.(1012-1014)Gag>Aag p.E338K RGS11_ENST00000359740.5_Missense_Mutation_p.E327K|RGS11_ENST00000316163.5_Missense_Mutation_p.E317K|ARHGDIG_ENST00000464609.1_Intron O94810 RGS11_HUMAN regulator of G-protein signaling 11 338 RGS. G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity endometrium(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1) 8 all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186) TATCGAAGCTCCTCACATGCC 0.657000 9 22 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179614852 179614852 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:179614852G>A ENST00000360870.5 - 46 12497 c.12275C>T c.(12274-12276)cCc>cTc p.P4092L TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA NM_133379.3 NP_596870.2 Q8WZ42 TITIN_HUMAN titin 3468 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) GTCTCCAGAGGGAGGAACTGG 0.423000 27 49 0 0 1 0 0 MTMR3 8897 broad.mit.edu 37 22 30416011 30416011 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr22:30416011C>T ENST00000333027.3 + 17 2691 c.2363C>T c.(2362-2364)tCc>tTc p.S788F MTMR3_ENST00000401950.2_Missense_Mutation_p.S788F|MTMR3_ENST00000351488.3_Missense_Mutation_p.S788F|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000406629.1_Missense_Mutation_p.S788F|MTMR3_ENST00000323630.5_Missense_Mutation_p.S652F NM_153050.2|NM_153051.2 NP_694690.1|NP_694691.1 Q13615 MTMR3_HUMAN myotubularin related protein 3 788 phosphatidylinositol dephosphorylation cytoplasm|membrane|membrane fraction|nucleus metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1) 17 OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107) GGAGAGGATTCCCTGGAGGTC 0.532000 38 54 0 0 1 0 0 EBF1 1879 broad.mit.edu 37 5 158139297 158139297 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:158139297G>A ENST00000313708.6 - 14 1696 c.1414C>T c.(1414-1416)Ccg>Tcg p.P472S EBF1_ENST00000517373.1_Intron|EBF1_ENST00000380654.4_Missense_Mutation_p.P441S|EBF1_ENST00000518836.1_5'UTR NM_024007.3 NP_076870.1 Q9UH73 COE1_HUMAN early B-cell factor 1 472 Pro/Ser/Thr-rich. multicellular organismal development nucleus DNA binding|metal ion binding p.P472T(1) HMGA2/EBF1(2) breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 42 Renal(175;0.00196) Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GTGGTGCTCGGCACGTACCCG 0.597000 T HMGA2 lipoma 8 15 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179499246 179499246 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:179499246C>T ENST00000589042.1 - 230 42486 c.42262G>A c.(42262-42264)Gga>Aga p.G14088R TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G11520R|TTN_ENST00000591111.1_Missense_Mutation_p.G12447R|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G5148R|TTN_ENST00000342175.6_Missense_Mutation_p.G5215R|TTN_ENST00000460472.2_Missense_Mutation_p.G5023R|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 12447 Fibronectin type-III 1. 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) ATATCAGGTCCTTTGGACCAT 0.408000 39 59 0 0 1 0 0 SERPING1 710 broad.mit.edu 37 11 57381961 57381961 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:57381961C>T ENST00000403558.1 + 7 1905 c.1539C>T c.(1537-1539)gtC>gtT p.V513V SERPING1_ENST00000278407.4_Silent_p.V470V|SERPING1_ENST00000378324.2_Silent_p.V418V|SERPING1_ENST00000340687.6_Silent_p.V433V|SERPING1_ENST00000378323.4_Silent_p.V475V NM_001032295.1 NP_001027466.1 P05155 IC1_HUMAN serpin peptidase inhibitor, clade G (C1 inhibitor), member 1 470 blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation extracellular space|platelet alpha granule lumen protein binding|serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1) 27 CCCTGCTGGTCTTTGAAGTGC 0.612000 30 32 0 0 1 0 0 ATP13A1 57130 broad.mit.edu 37 19 19765410 19765410 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:19765410G>A ENST00000357324.6 - 13 1781 c.1755C>T c.(1753-1755)ctC>ctT p.L585L ATP13A1_ENST00000496082.1_5'UTR|ATP13A1_ENST00000291503.5_Silent_p.L467L NM_020410.2 NP_065143.2 Q9HD20 AT131_HUMAN ATPase type 13A1 585 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 GGTCACCCACGAGGGTGCCGT 0.662000 21 35 0 0 1 0 0 PAX2 5076 broad.mit.edu 37 10 102566317 102566317 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:102566317C>T ENST00000370296.2 + 7 1366 c.816C>T c.(814-816)tcC>tcT p.S272S PAX2_ENST00000355243.3_Silent_p.S249S|PAX2_ENST00000556085.1_Silent_p.S248S|PAX2_ENST00000553492.1_3'UTR|PAX2_ENST00000361791.3_Silent_p.S249S|PAX2_ENST00000428433.1_Silent_p.S272S Q02962 PAX2_HUMAN paired box 2 272 anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception centriolar satellite|nucleus|protein complex|protein-DNA complex core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 18 Colorectal(252;0.234) Epithelial(162;1.32e-08)|all cancers(201;7.32e-07) AGCGTCCTTCCTACCCTGACG 0.552000 81 155 0 0 1 0 0 MYH1 4619 broad.mit.edu 37 17 10408142 10408142 + Silent SNP T T C TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:10408142T>C ENST00000226207.5 - 22 2770 c.2676A>G c.(2674-2676)caA>caG p.Q892Q CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 892 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 GAACCTGGAGTTGCAAGTCAT 0.408000 15 25 0 0 1 0 0 NIT2 56954 broad.mit.edu 37 3 100058674 100058674 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:100058674C>T ENST00000394140.3 + 3 233 c.142C>T c.(142-144)Cca>Tca p.P48S NM_020202.4 NP_064587.1 Q9NQR4 NIT2_HUMAN nitrilase family, member 2 48 CN hydrolase. nitrogen compound metabolic process omega-amidase activity breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1) 17 CTTTAATTCTCCATATGGAGC 0.373000 7 26 0 0 1 0 0 RPTOR 57521 broad.mit.edu 37 17 78899197 78899197 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:78899197G>A ENST00000306801.3 + 24 3198 c.2836G>A c.(2836-2838)Gga>Aga p.G946R RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Missense_Mutation_p.G788R NM_020761.2 NP_065812.1 Q8N122 RPTOR_HUMAN regulatory associated protein of MTOR, complex 1 946 cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade cytosol|lysosome|TORC1 complex protein complex binding breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3) 44 CGATGCTGCTGGACACAAAAG 0.582000 19 31 0 0 1 0 0 DLL3 10683 broad.mit.edu 37 19 39994744 39994744 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:39994744G>A ENST00000205143.4 + 5 693 c.686G>A c.(685-687)gGc>gAc p.G229D DLL3_ENST00000356433.5_Missense_Mutation_p.G229D NM_016941.3 NP_058637.1 Q9NYJ7 DLL3_HUMAN delta-like 3 (Drosophila) 229 EGF-like 1. Notch signaling pathway|skeletal system development integral to membrane Notch binding breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7) 19 all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159) Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657) CCTGAGCATGGCTTCTGTGAA 0.642000 18 40 0 0 1 0 0 WNT7A 7476 broad.mit.edu 37 3 13860791 13860791 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:13860791C>T ENST00000285018.4 - 4 1004 c.700G>A c.(700-702)Gag>Aag p.E234K NM_004625.3 NP_004616.2 O00755 WNT7A_HUMAN wingless-type MMTV integration site family, member 7A 234 activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 24 TGAACGGCCTCGTTGTACTTG 0.607000 43 38 0 0 1 0 0 EXD1 161829 broad.mit.edu 37 15 41476458 41476458 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr15:41476458C>T ENST00000314992.5 - 10 1406 c.1216G>A c.(1216-1218)Gat>Aat p.D406N EXD1_ENST00000458580.2_Missense_Mutation_p.D464N NM_152596.2 NP_689809.2 Q8NHP7 EXD1_HUMAN exonuclease 3'-5' domain containing 1 406 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process intracellular 3'-5' exonuclease activity|nucleic acid binding large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2) 16 TTACTGGAATCCTCACTGGTT 0.418000 56 104 0 0 1 0 0 PNCK 139728 broad.mit.edu 37 X 152938047 152938047 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:152938047C>T ENST00000393831.2 - 3 608 c.174G>A c.(172-174)gtG>gtA p.V58V PNCK_ENST00000447676.2_Silent_p.V141V|PNCK_ENST00000370150.1_Silent_p.V58V|PNCK_ENST00000340888.3_Silent_p.V58V|PNCK_ENST00000370145.4_Silent_p.V75V|PNCK_ENST00000475172.1_5'UTR|PNCK_ENST00000370142.1_Silent_p.V58V NM_001039582.3 NP_001034671.3 Q6P2M8 KCC1B_HUMAN pregnancy up-regulated nonubiquitous CaM kinase 58 Protein kinase. cytoplasm|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity breast(2)|lung(3)|skin(1) 6 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TCTCGTTCTCCACCAGGGCCT 0.682000 57 71 0 0 1 0 0 PSMC6 5706 broad.mit.edu 37 14 53184987 53184987 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr14:53184987G>A ENST00000445930.2 + 9 680 c.674G>A c.(673-675)aGt>aAt p.S225N PSMC6_ENST00000606149.1_Missense_Mutation_p.S211N P62333 PRS10_HUMAN proteasome (prosome, macropain) 26S subunit, ATPase, 6 211 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction cytoplasm|nucleus|proteasome complex ATP binding|ATPase activity|protein binding, bridging breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1) 19 Breast(41;0.176) ATTGGTGAAAGTGCTCGTTTG 0.294000 35 43 0 0 1 0 0 WNK2 65268 broad.mit.edu 37 9 96055202 96055202 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr9:96055202C>T ENST00000297954.4 + 23 5566 c.5566C>T c.(5566-5568)Ccg>Tcg p.P1856S WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000427277.2_Missense_Mutation_p.P1431S|WNK2_ENST00000395477.2_Missense_Mutation_p.P1819S|WNK2_ENST00000349097.3_Missense_Mutation_p.P1468S|WNK2_ENST00000356055.3_Missense_Mutation_p.P183S Q9Y3S1 WNK2_HUMAN WNK lysine deficient protein kinase 2 1856 intracellular protein kinase cascade ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2) 54 GGCGAGACCCCCGGTGCAGAA 0.726000 13 2 0 0 1 0 0 HNRNPKP3 399881 broad.mit.edu 37 11 43284052 43284052 + RNA SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:43284052C>T ENST00000511537.1 - 0 883 NR_033868.1 TCCAGGTCTTCCTCTTCTGTC 0.493000 8 14 0 0 1 0 0 REG1A 5967 broad.mit.edu 37 2 79349131 79349131 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:79349131G>A ENST00000233735.1 + 4 304 c.201G>A c.(199-201)atG>atA p.M67I NM_002909.4 NP_002900.2 P05451 REG1A_HUMAN regenerating islet-derived 1 alpha 67 C-type lectin. positive regulation of cell proliferation extracellular region growth factor activity|sugar binding NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1) 39 GCCAGAACATGAATTCGGGCA 0.512000 37 81 0 0 1 0 0 SIK2 23235 broad.mit.edu 37 11 111592632 111592632 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:111592632C>T ENST00000304987.3 + 13 2196 c.2023C>T c.(2023-2025)Ctg>Ttg p.L675L NM_015191.1 NP_056006.1 Q9H0K1 SIK2_HUMAN salt-inducible kinase 2 675 intracellular protein kinase cascade|regulation of insulin receptor signaling pathway Golgi apparatus ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 30 ACGGCAGAGCCTGGAGACCCA 0.577000 13 22 0 0 1 0 0 IGF2R 3482 broad.mit.edu 37 6 160496887 160496887 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr6:160496887C>T ENST00000356956.1 + 36 5323 c.5175C>T c.(5173-5175)ggC>ggT p.G1725G NM_000876.2 NP_000867.2 P11717 MPRI_HUMAN insulin-like growth factor 2 receptor 1725 receptor-mediated endocytosis cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Breast(66;0.000777)|Ovarian(120;0.0305) OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05) AGGATATCGGCCGGGTAGCAG 0.393000 41 10 0 0 1 0 0 PDE1C 5137 broad.mit.edu 37 7 32209525 32209525 + Silent SNP C C A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:32209525C>A ENST00000396193.1 - 3 773 c.180G>T c.(178-180)ggG>ggT p.G60G NM_001191058.1 NP_001177987.1 Q14123 PDE1C_HUMAN phosphodiesterase 1C, calmodulin-dependent 70kDa 0 activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 81 GBM - Glioblastoma multiforme(11;0.216) TCCCTGTGAGCCCATCGATGA 0.522000 46 104 7.88023e-25 8.05379e-25 1 1 0 PLK4 10733 broad.mit.edu 37 4 128811294 128811294 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr4:128811294C>T ENST00000270861.5 + 7 2007 c.1733C>T c.(1732-1734)cCa>cTa p.P578L PLK4_ENST00000514379.1_Missense_Mutation_p.P537L|PLK4_ENST00000513090.1_Missense_Mutation_p.P546L|PLK4_ENST00000507249.1_Missense_Mutation_p.P544L|PLK4_ENST00000515069.1_Missense_Mutation_p.P500L NM_014264.4 NP_055079.3 O00444 PLK4_HUMAN polo-like kinase 4 578 G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation centriole|cleavage furrow|cytosol|nucleolus ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1) 31 GGTATGGAGCCACCATGGGGT 0.418000 9 38 0 0 1 0 0 LRRIQ3 127255 broad.mit.edu 37 1 74492516 74492516 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:74492516G>A ENST00000354431.4 - 8 2047 c.1856C>T c.(1855-1857)cCc>cTc p.P619L LRRIQ3_ENST00000395089.1_Missense_Mutation_p.P619L NM_001105659.1 NP_001099129.1 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 619 p.P619H(1) NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5) 73 CAGTCCATTGGGAACTTTAAA 0.289000 7 22 0 0 1 0 0 TPCN2 219931 broad.mit.edu 37 11 68830447 68830447 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:68830447G>A ENST00000294309.3 + 6 743 c.642G>A c.(640-642)ccG>ccA p.P214P TPCN2_ENST00000442692.2_3'UTR|TPCN2_ENST00000542467.1_Silent_p.P214P NM_139075.3 NP_620714.2 Q8NHX9 TPC2_HUMAN two pore segment channel 2 214 cellular calcium ion homeostasis|smooth muscle contraction endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1) 32 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) GGTCGCTGCCGGAAATGGCCA 0.647000 47 55 0 0 1 0 0 CMC4 100272147 broad.mit.edu 37 X 154290193 154290193 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:154290193C>T ENST00000369484.3 - 3 810 c.132G>A c.(130-132)aaG>aaA p.K44K CMC4_ENST00000369479.1_Silent_p.K44K NM_001018024.2 NP_001018024.1 C-x(9)-C motif containing 4 CAGATCTTCCCTTGGGATACT 0.438000 53 97 0 0 1 0 0 IGDCC3 9543 broad.mit.edu 37 15 65667545 65667545 + Missense_Mutation SNP T T G TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr15:65667545T>G ENST00000327987.4 - 2 550 c.299A>C c.(298-300)cAc>cCc p.H100P NM_004884.3 NP_004875.2 Q8IVU1 IGDC3_HUMAN immunoglobulin superfamily, DCC subclass, member 3 100 Ig-like C2-type 1. breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 CAGCCTGAAGTGACGGATCAT 0.607000 21 40 0 0 1 0 0 ZBED1 9189 broad.mit.edu 37 X 2407922 2407922 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:2407922G>A ENST00000381223.4 - 2 1042 c.839C>T c.(838-840)tCc>tTc p.S280F ZBED1_ENST00000381218.3_Missense_Mutation_p.S280F|DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381222.2_Missense_Mutation_p.S280F NM_001171135.1|NM_001171136.1|NM_004729.3 NP_001164606.1|NP_001164607.1|NP_004720.1 O96006 ZBED1_HUMAN zinc finger, BED-type containing 1 280 nuclear chromosome DNA binding|metal ion binding|protein dimerization activity|transposase activity endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1) 25 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) GTCCAGCAGGGAGCACGCCTT 0.632000 68 124 0 0 1 0 0 HSPG2 3339 broad.mit.edu 37 1 22206875 22206875 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:22206875G>A ENST00000374695.3 - 16 2255 c.2176C>T c.(2176-2178)Cac>Tac p.H726Y NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 726 Laminin IV type A 1. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) TCCACACTGTGGGCACGGCCA 0.617000 16 15 0 0 1 0 0 LRRC10 376132 broad.mit.edu 37 12 70004470 70004470 + Missense_Mutation SNP G G A rs141358220 TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:70004470G>A ENST00000361484.3 - 1 472 c.149C>T c.(148-150)tCc>tTc p.S50F NM_201550.2 NP_963844.2 Q5BKY1 LRC10_HUMAN leucine rich repeat containing 10 50 nucleus large_intestine(2)|lung(6) 8 all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187) Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24) CTCCCTGAAGGAGCACACGTG 0.592000 14 29 0 0 1 0 0 PPP1R13L 10848 broad.mit.edu 37 19 45900260 45900260 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:45900260G>A ENST00000418234.2 - 4 333 c.255C>T c.(253-255)ccC>ccT p.P85P PPP1R13L_ENST00000360957.5_Silent_p.P85P NM_001142502.1 NP_001135974.1 Q8WUF5 IASPP_HUMAN protein phosphatase 1, regulatory subunit 13 like 85 Pro-rich. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus transcription corepressor activity|transcription factor binding breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0182) CCGCCTTCCGGGGGGACCCTC 0.682000 6 13 0 0 1 0 0 MMP27 64066 broad.mit.edu 37 11 102567175 102567175 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:102567175G>A ENST00000260229.4 - 6 920 c.829C>T c.(829-831)Cat>Tat p.H277Y NM_022122.2 NP_071405.2 Q9H306 MMP27_HUMAN matrix metallopeptidase 27 277 collagen catabolic process|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176) BRCA - Breast invasive adenocarcinoma(274;0.0151) TCACAGGCATGGGGTATAGTG 0.413000 28 52 0 0 1 0 0 DLG5 9231 broad.mit.edu 37 10 79589166 79589166 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:79589166G>A ENST00000372391.2 - 12 2137 c.2132C>T c.(2131-2133)tCc>tTc p.S711F DLG5_ENST00000372388.2_Missense_Mutation_p.S711F NM_004747.3 NP_004738.3 Q8TDM6 DLG5_HUMAN discs, large homolog 5 (Drosophila) 711 PDZ 2. cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis cell junction|cytoplasm beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 60 all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146) Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446) CCCACCCAGGGACTTCCTCCG 0.607000 46 96 0 0 1 0 0 PIGZ 80235 broad.mit.edu 37 3 196674505 196674505 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:196674505G>A ENST00000412723.1 - 3 1409 c.1263C>T c.(1261-1263)gcC>gcT p.A421A NM_025163.2 NP_079439.2 Q86VD9 PIGZ_HUMAN phosphatidylinositol glycan anchor biosynthesis, class Z 421 GPI anchor biosynthetic process integral to membrane|intrinsic to endoplasmic reticulum membrane alpha-1,2-mannosyltransferase activity breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1) 14 all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838) Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00603) GGGCACCGAGGGCGTTGAAGA 0.647000 10 16 0 0 1 0 0 IGSF3 3321 broad.mit.edu 37 1 117158813 117158813 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:117158813G>A ENST00000369486.3 - 3 1075 c.310C>T c.(310-312)Cta>Tta p.L104L IGSF3_ENST00000369483.1_Silent_p.L104L|IGSF3_ENST00000318837.6_Silent_p.L104L NM_001007237.1 NP_001007238.1 O75054 IGSF3_HUMAN immunoglobulin superfamily, member 3 104 Ig-like C2-type 1. integral to membrane NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 62 Lung SC(450;0.225) all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05) Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166) ATGTGCAATAGGGTTGAGTTC 0.527000 10 36 0 0 1 0 0 BCOR 54880 broad.mit.edu 37 X 39923689 39923689 + Missense_Mutation SNP C C G TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:39923689C>G ENST00000342274.4 - 7 3764 c.3402G>C c.(3400-3402)agG>agC p.R1134S BCOR_ENST00000397354.3_Missense_Mutation_p.R1134S|BCOR_ENST00000378455.4_Missense_Mutation_p.R1116S|BCOR_ENST00000378444.4_Missense_Mutation_p.R1134S|BCOR_ENST00000378463.1_Missense_Mutation_p.R11S NM_001123383.1 NP_001116855.1 Q6W2J9 BCOR_HUMAN BCL6 corepressor 1134 heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent nucleus heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 126 CTTTGCGTTTCCTGTCCACCC 0.612000 """F, N, S, T""" RARA """retinoblastoma, AML, APL(translocation)""" oculo-facio-cardio-dental genetic 34 53 0 0 1 0 0 ATP10D 57205 broad.mit.edu 37 4 47559989 47559989 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr4:47559989C>T ENST00000273859.3 + 12 2402 c.2133C>T c.(2131-2133)tcC>tcT p.S711S AC092597.3_ENST00000508081.1_RNA NM_020453.3 NP_065186.3 Q9P241 AT10D_HUMAN ATPase, class V, type 10D 711 ATP biosynthetic process|cation transport integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1) 66 AGGCAGAGTCCCTCCCTGGAC 0.572000 11 35 0 0 1 0 0 PCDHA12 56137 broad.mit.edu 37 5 140257124 140257124 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:140257124C>T ENST00000398631.2 + 1 2067 c.2067C>T c.(2065-2067)ccC>ccT p.P689P PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron NM_018903.2|NM_031864.1 NP_061726.1|NP_114070.1 NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGTGGATCCCGAAGCGGCTC 0.647000 25 40 0 0 1 0 0 GAB4 128954 broad.mit.edu 37 22 17488983 17488983 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr22:17488983G>A ENST00000400588.1 - 1 129 c.22C>T c.(22-24)Ccc>Tcc p.P8S NM_001037814.1 NP_001032903.1 Q2WGN9 GAB4_HUMAN GRB2-associated binding protein family, member 4 8 breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 all_epithelial(15;0.112)|Lung NSC(13;0.248) TCCCGGGAGGGTGAGGGGGAC 0.687000 11 9 0 0 1 0 0 CACNA1F 778 broad.mit.edu 37 X 49084739 49084739 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:49084739C>T ENST00000376265.2 - 7 1049 c.988G>A c.(988-990)Gaa>Aaa p.E330K CACNA1F_ENST00000376251.1_Missense_Mutation_p.E265K|CACNA1F_ENST00000323022.5_Missense_Mutation_p.E330K NM_005183.2 NP_005174.2 O60840 CAC1F_HUMAN calcium channel, voltage-dependent, L type, alpha 1F subunit 330 Calcium ion selectivity and permeability (By similarity). axon guidance|detection of light stimulus involved in visual perception voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1) 85 Verapamil(DB00661) GTCCAGCCTTCCATGGTGACA 0.587000 10 24 0 0 1 0 0 ZNF433 163059 broad.mit.edu 37 19 12125812 12125812 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:12125812C>T ENST00000419886.2 - 5 2056 c.1765G>A c.(1765-1767)Ggg>Agg p.G589R ZNF433_ENST00000344980.6_Missense_Mutation_p.G624R|CTD-2006C1.2_ENST00000495324.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000406892.2_RNA Q8N7K0 ZN433_HUMAN zinc finger protein 433 624 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1) 14 AAAGCTTTCCCACATTGCTTA 0.438000 26 37 0 0 1 0 0 TRIM67 440730 broad.mit.edu 37 1 231344869 231344869 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:231344869C>T ENST00000444294.3 + 8 2848 c.1990C>T c.(1990-1992)Ccc>Tcc p.P664S TRIM67_ENST00000366652.2_Missense_Mutation_p.P666S|TRIM67_ENST00000366653.5_Missense_Mutation_p.P666S|TRIM67_ENST00000449018.3_Missense_Mutation_p.P604S NM_001004342.3 NP_001004342.3 Q6ZTA4 TRI67_HUMAN tripartite motif containing 67 666 B30.2/SPRY. cytoplasm|cytoskeleton zinc ion binding p.P666T(2) breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 Breast(184;0.0871) all_cancers(173;0.189)|Prostate(94;0.167) CCACCCAGACCCCGCCTTCGG 0.632000 62 25 0 0 1 0 0 ZNF629 23361 broad.mit.edu 37 16 30794800 30794800 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr16:30794800G>A ENST00000262525.4 - 3 1056 c.849C>T c.(847-849)acC>acT p.T283T NM_001080417.1 NP_001073886.1 Q9UEG4 ZN629_HUMAN zinc finger protein 629 283 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1) 22 Colorectal(24;0.198) CGCCTGTGTGGGTGGCCTGGT 0.642000 23 40 0 0 1 0 0 ZNF804B 219578 broad.mit.edu 37 7 88966298 88966298 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:88966298G>A ENST00000333190.4 + 4 4611 c.4002G>A c.(4000-4002)caG>caA p.Q1334Q NM_181646.2 NP_857597.1 A4D1E1 Z804B_HUMAN zinc finger protein 804B 1334 intracellular zinc ion binding NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9) 144 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) AGATGCAACAGCTAAATGAAG 0.383000 HNSCC(36;0.09) 30 73 0 0 1 0 0 GDF2 2658 broad.mit.edu 37 10 48414339 48414339 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:48414339C>T ENST00000249598.1 - 2 688 c.529G>A c.(529-531)Gat>Aat p.D177N NM_016204.1 NP_057288.1 Q9UK05 GDF2_HUMAN growth differentiation factor 2 177 activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent extracellular space cytokine activity|growth factor activity breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 28 TCTGTTCCATCCAGAACATCA 0.532000 17 30 0 0 1 0 0 STAT5A 6776 broad.mit.edu 37 17 40452852 40452852 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:40452852C>T ENST00000345506.4 + 9 1595 c.953C>T c.(952-954)gCc>gTc p.A318V STAT5A_ENST00000452307.2_Missense_Mutation_p.A318V|STAT5A_ENST00000590949.1_Missense_Mutation_p.A318V|STAT5A_ENST00000588868.1_Missense_Mutation_p.A318V|STAT5A_ENST00000546010.2_Missense_Mutation_p.A288V NM_003152.3 NP_003143.2 P42229 STA5A_HUMAN signal transducer and activator of transcription 5A 318 2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|succinate metabolic process|taurine metabolic process|valine metabolic process cytosol|nucleoplasm calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 14 all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.128) GAGGTCAACGCCACCATCACG 0.647000 16 20 0 0 1 0 0 C19orf57 79173 broad.mit.edu 37 19 14000669 14000669 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:14000669G>A ENST00000454313.1 - 6 1058 c.1000C>T c.(1000-1002)Ctc>Ttc p.L334F C19orf57_ENST00000586783.1_Missense_Mutation_p.L334F|C19orf57_ENST00000591586.1_Intron|C19orf57_ENST00000346736.2_Missense_Mutation_p.L334F Q0VDD7 CS057_HUMAN chromosome 19 open reading frame 57 334 multicellular organismal development protein binding breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(19;2e-21) ACCATCCCGAGGGAGGAGCAT 0.657000 17 35 0 0 1 0 0 FREM1 158326 broad.mit.edu 37 9 14808111 14808111 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr9:14808111G>A ENST00000380881.4 - 18 3733 c.2918C>T c.(2917-2919)cCt>cTt p.P973L FREM1_ENST00000422223.2_Missense_Mutation_p.P972L|FREM1_ENST00000380880.3_Missense_Mutation_p.P972L Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 972 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) GTCAAAACAAGGCATCAGGCC 0.438000 35 10 0 0 1 0 0 FAM229B 619208 broad.mit.edu 37 6 112421922 112421922 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr6:112421922C>T ENST00000368656.2 + 4 472 c.175C>T c.(175-177)Ccc>Tcc p.P59S FAM229B_ENST00000604268.1_Missense_Mutation_p.P59S NM_001033564.1 NP_001028736.1 family with sequence similarity 229, member B AACTGATGTTCCCGTCACTGT 0.418000 19 25 0 0 1 0 0 BCAS3 54828 broad.mit.edu 37 17 58824580 58824580 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:58824580C>T ENST00000589222.1 + 6 411 c.343C>T c.(343-345)Ctc>Ttc p.L115F BCAS3_ENST00000408905.3_Missense_Mutation_p.L115F|BCAS3_ENST00000588462.1_Missense_Mutation_p.L115F|BCAS3_ENST00000390652.5_Missense_Mutation_p.L115F|BCAS3_ENST00000407086.3_Missense_Mutation_p.L115F Q9H6U6 BCAS3_HUMAN breast carcinoma amplified sequence 3 115 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) AGCACAAGAGCTCTTCTCTGT 0.393000 65 124 0 0 1 0 0 PDCL 5082 broad.mit.edu 37 9 125588973 125588973 + Nonsense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr9:125588973G>A ENST00000259467.4 - 2 259 c.94C>T c.(94-96)Cga>Tga p.R32* NM_005388.4 NP_005379.3 Q13371 PHLP_HUMAN phosducin-like 32 signal transduction|visual perception endometrium(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1) 10 CATCTGCCTCGGTCCTTGTCC 0.552000 47 17 0 0 1 0 0 STX12 23673 broad.mit.edu 37 1 28120125 28120125 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:28120125C>T ENST00000373943.4 + 3 395 c.270C>T c.(268-270)ccC>ccT p.P90P STX12_ENST00000468761.1_3'UTR NM_177424.2 NP_803173.1 Q86Y82 STX12_HUMAN syntaxin 12 90 cholesterol efflux|intracellular protein transport|protein stabilization|vesicle-mediated transport Golgi apparatus|integral to membrane|membrane raft|phagocytic vesicle SNAP receptor activity breast(1)|central_nervous_system(1)|large_intestine(3)|lung(3) 8 Colorectal(325;3.46e-05)|all_lung(284;9.43e-05)|Lung NSC(340;0.000185)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;3.96e-24)|Colorectal(126;3.46e-08)|COAD - Colon adenocarcinoma(152;1.83e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00258)|KIRC - Kidney renal clear cell carcinoma(1967;0.00302)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0649) TGCCCCTTCCCTTATCTACTT 0.363000 8 25 0 0 1 0 0 SGIP1 84251 broad.mit.edu 37 1 67147816 67147816 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:67147816C>T ENST00000371037.4 + 15 1156 c.1079C>T c.(1078-1080)cCc>cTc p.P360L SGIP1_ENST00000371035.3_Intron|SGIP1_ENST00000371036.3_Intron|SGIP1_ENST00000371039.1_Intron|SGIP1_ENST00000237247.6_Missense_Mutation_p.P364L NM_032291.2 NP_115667.2 Q9BQI5 SGIP1_HUMAN SH3-domain GRB2-like (endophilin) interacting protein 1 360 Pro-rich. positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess AP-2 adaptor complex microtubule binding|phospholipid binding|SH3 domain binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 71 CCCACAGGCCCCCCAGGGCCT 0.572000 44 129 0 0 1 0 0 COL6A1 1291 broad.mit.edu 37 21 47422153 47422153 + Nonsense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr21:47422153G>A ENST00000361866.3 + 32 2202 c.2088G>A c.(2086-2088)tgG>tgA p.W696* COL6A1_ENST00000498614.1_3'UTR NM_001848.2 NP_001839.2 P12109 CO6A1_HUMAN collagen, type VI, alpha 1 696 C-terminal globular domain.|VWFA 2. axon guidance|cell adhesion|protein heterotrimerization collagen type VI|protein complex platelet-derived growth factor binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 all_hematologic(128;0.24) Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649) Palifermin(DB00039) GCCTGCAGTGGATGGCGGGCG 0.697000 5 3 0 0 1 0 0 KIF21A 55605 broad.mit.edu 37 12 39763620 39763620 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:39763620G>A ENST00000395670.3 - 3 780 c.361C>T c.(361-363)Ctt>Ttt p.L121F KIF21A_ENST00000541463.2_Missense_Mutation_p.L121F|KIF21A_ENST00000361418.5_Missense_Mutation_p.L121F|KIF21A_ENST00000361961.3_Missense_Mutation_p.L121F|KIF21A_ENST00000544797.2_Missense_Mutation_p.L121F Q7Z4S6 KI21A_HUMAN kinesin family member 21A 121 Kinesin-motor. 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) CTCTTAAAAAGGTGTTTAACA 0.348000 19 31 0 0 1 0 0 MIR515-1 574462 broad.mit.edu 37 19 54182275 54182275 + RNA SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:54182275C>T ENST00000384884.1 + 0 19 NR_030184.1|NR_030187.1 AGTCATTCTCCAAAAGAAAGC 0.373000 23 46 0 0 1 0 0 DPYSL5 56896 broad.mit.edu 37 2 27167532 27167532 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:27167532G>A ENST00000288699.6 + 12 1607 c.1449G>A c.(1447-1449)aaG>aaA p.K483K DPYSL5_ENST00000401478.1_Silent_p.K483K NM_001253724.1|NM_020134.3 NP_001240653.1|NP_064519.2 Q9BPU6 DPYL5_HUMAN dihydropyrimidinase-like 5 483 axon guidance|pyrimidine base catabolic process|signal transduction cytosol hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGACTTTAAAGGTTAGAGGAG 0.557000 29 24 0 0 1 0 0 PTPN12 5782 broad.mit.edu 37 7 77240341 77240341 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:77240341C>T ENST00000248594.6 + 11 1189 c.917C>T c.(916-918)gCt>gTt p.A306V PTPN12_ENST00000415482.2_Missense_Mutation_p.A187V|PTPN12_ENST00000435495.2_Missense_Mutation_p.A176V NM_002835.3 NP_002826.3 Q05209 PTN12_HUMAN protein tyrosine phosphatase, non-receptor type 12 306 soluble fraction non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1) 39 ATTCATGGAGCTCAGAAAATT 0.318000 60 93 0 0 1 0 0 CPQ 10404 broad.mit.edu 37 8 97892030 97892030 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:97892030C>T ENST00000220763.5 + 4 856 c.646C>T c.(646-648)Cac>Tac p.H216Y NM_016134.2 NP_057218.1 Q9Y646 PGCP_HUMAN carboxypeptidase Q 216 peptide metabolic process|proteolysis cytoplasm|extracellular space metal ion binding|metallocarboxypeptidase activity CTCAAGTCCTCACACAGGTAT 0.418000 33 54 0 0 1 0 0 CDH5 1003 broad.mit.edu 37 16 66426130 66426130 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr16:66426130G>A ENST00000341529.3 + 7 1209 c.1061G>A c.(1060-1062)gGa>gAa p.G354E CDH5_ENST00000563425.2_Missense_Mutation_p.G354E NM_001795.3 NP_001786.2 P33151 CADH5_HUMAN cadherin 5, type 2 (vascular endothelium) 354 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity integral to membrane|membrane fraction beta-catenin binding|calcium ion binding|ion channel binding|receptor binding central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 Ovarian(137;0.0955) OV - Ovarian serous cystadenocarcinoma(108;0.107) CCTCCCGCGGGAAACAGAGCC 0.527000 66 101 0 0 1 0 0 ARHGAP35 2909 broad.mit.edu 37 19 47503786 47503786 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:47503786C>T ENST00000404338.3 + 6 4341 c.4341C>T c.(4339-4341)gcC>gcT p.A1447A NM_004491.4 NP_004482.4 Q9NRY4 RHG35_HUMAN Rho GTPase activating protein 35 1447 Pro-rich. axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent cytosol DNA binding|Rho GTPase activator activity|transcription corepressor activity CCCCCGGCGCCAGGCCCAGCT 0.642000 26 59 0 0 1 0 0 TTLL8 164714 broad.mit.edu 37 22 50469179 50469179 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr22:50469179C>T ENST00000266182.6 - 12 1882 c.1883G>A c.(1882-1884)gGa>gAa p.G628E TTLL8_ENST00000440475.1_Missense_Mutation_p.G608E tubulin tyrosine ligase-like family, member 8 NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4) 12 all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162) READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226) TGATGGGGGTCCCTGGGCAGG 0.692000 3 8 0 0 1 0 0 TBL2 26608 broad.mit.edu 37 7 72985581 72985581 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:72985581G>A ENST00000305632.5 - 6 1057 c.816C>T c.(814-816)gcC>gcT p.A272A TBL2_ENST00000459913.1_5'UTR|TBL2_ENST00000432538.1_Silent_p.A236A NM_012453.2 NP_036585.1 Q9Y4P3 TBL2_HUMAN transducin (beta)-like 2 272 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 19 Lung NSC(55;0.0659)|all_lung(88;0.152) TTAGTTCGAAGGCTCGCACCA 0.547000 20 45 0 0 1 0 0 FNDC4 64838 broad.mit.edu 37 2 27715552 27715552 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:27715552C>T ENST00000264703.3 - 6 1041 c.650G>A c.(649-651)aGg>aAg p.R217K NM_022823.2 NP_073734.1 Q9H6D8 FNDC4_HUMAN fibronectin type III domain containing 4 217 integral to membrane NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|prostate(1)|skin(1) 9 Acute lymphoblastic leukemia(172;0.155) CCCCACTGGCCTTCCCTGAGG 0.567000 48 81 0 0 1 0 0 TLX2 3196 broad.mit.edu 37 2 74742935 74742935 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:74742935G>A ENST00000233638.7 + 2 899 c.576G>A c.(574-576)aaG>aaA p.K192K NM_016170.4 NP_057254.1 O43763 TLX2_HUMAN T-cell leukemia homeobox 2 192 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|ovary(1) 2 CGCTGGCCAAGGCCTTGCGCA 0.692000 10 18 0 0 1 0 0 ZC3HAV1 56829 broad.mit.edu 37 7 138732569 138732569 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:138732569G>A ENST00000242351.5 - 13 2796 c.2480C>T c.(2479-2481)tCc>tTc p.S827F ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.S949F NM_020119.3 NP_064504.2 Q7Z2W4 ZCCHV_HUMAN zinc finger CCCH-type, antiviral 1 827 PARP catalytic. response to virus cytoplasm|nucleus NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1) 37 ATTTTTGTGGGAATAGATGGC 0.333000 42 47 0 0 1 0 0 KCTD7 154881 broad.mit.edu 37 7 66264400 66264400 + Splice_Site SNP A A T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:66264400A>T ENST00000380828.2 + 9 1093 c.940_splice c.e9+1 p.T313_splice RABGEF1_ENST00000450873.2_Splice_Site_p.T273_splice|RABGEF1_ENST00000284957.5_Splice_Site_p.T273_splice|RABGEF1_ENST00000439720.2_Splice_Site_p.T286_splice|KCTD7_ENST00000451741.2_Splice_Site_p.T273_splice|RABGEF1_ENST00000437078.2_Splice_Site_p.T287_splice|KCTD7_ENST00000510829.2_Splice_Site_p.T273_splice|RABGEF1_ENST00000484547.2_3'UTR Q96MP8 KCTD7_HUMAN potassium channel tetramerization domain containing 7 250 voltage-gated potassium channel complex voltage-gated potassium channel activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1) 16 AGGCGATCACAGGTCAGTGAA 0.423000 27 13 0 0 1 0 0 LRGUK 136332 broad.mit.edu 37 7 133886309 133886309 + Missense_Mutation SNP G G C rs146922831 byFrequency TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:133886309G>C ENST00000285928.2 + 15 1893 c.1824G>C c.(1822-1824)aaG>aaC p.K608N NM_144648.1 NP_653249.1 Q96M69 LRGUK_HUMAN leucine-rich repeats and guanylate kinase domain containing 608 ATP binding|kinase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 49 AACCTGCCAAGAGTTTGGCTA 0.383000 24 41 0 0 1 0 0 DPP10 57628 broad.mit.edu 37 2 116510843 116510843 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:116510843C>T ENST00000410059.1 + 11 1524 c.1044C>T c.(1042-1044)gtC>gtT p.V348V DPP10_ENST00000393147.2_Silent_p.V352V|DPP10_ENST00000310323.8_Silent_p.V341V|DPP10_ENST00000409163.1_Silent_p.V298V NM_001178037.1|NM_020868.3 NP_001171508.1|NP_065919.2 Q8N608 DPP10_HUMAN dipeptidyl-peptidase 10 (non-functional) 348 proteolysis integral to membrane|membrane fraction serine-type peptidase activity breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1) 101 TCCTCACAGTCTGTGAGACCA 0.373000 20 32 0 0 1 0 0 MAST1 22983 broad.mit.edu 37 19 12979965 12979965 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:12979965C>T ENST00000251472.4 + 22 2898 c.2859C>T c.(2857-2859)ccC>ccT p.P953P NM_014975.2 NP_055790.1 Q9Y2H9 MAST1_HUMAN microtubule associated serine/threonine kinase 1 953 cytoskeleton organization|intracellular protein kinase cascade cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3) 56 ACTCCTCACCCAGCCGGGACT 0.592000 25 50 0 0 1 0 0 CCNL2 81669 broad.mit.edu 37 1 1323209 1323209 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:1323209G>A ENST00000400809.3 - 10 1164 c.1159C>T c.(1159-1161)Cgt>Tgt p.R387C CCNL2_ENST00000408952.5_Missense_Mutation_p.R165C|CCNL2_ENST00000505849.1_5'UTR NM_030937.4 NP_112199.2 Q96S94 CCNL2_HUMAN cyclin L2 387 RS. regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent nuclear speck protein kinase binding central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2) 13 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146) CTCTGCTCACGGCTCCGGCTC 0.637000 12 10 0 0 1 0 0 CDHR1 92211 broad.mit.edu 37 10 85961614 85961614 + Nonsense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:85961614C>T ENST00000372117.3 + 7 680 c.577C>T c.(577-579)Cag>Tag p.Q193* CDHR1_ENST00000332904.3_Nonsense_Mutation_p.Q193* NM_033100.2 NP_149091.1 Q96JP9 CDHR1_HUMAN cadherin-related family member 1 193 Cadherin 2. homophilic cell adhesion calcium ion binding|receptor activity breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1) 36 GCTGCGCCTCCAGGCTGGGGC 0.617000 9 27 0 0 1 0 0 COL11A1 1301 broad.mit.edu 37 1 103427755 103427755 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:103427755C>T ENST00000358392.2 - 40 3444 c.3127G>A c.(3127-3129)Gaa>Aaa p.E1043K COL11A1_ENST00000512756.1_Missense_Mutation_p.E915K|COL11A1_ENST00000370096.3_Missense_Mutation_p.E1031K|COL11A1_ENST00000353414.4_Missense_Mutation_p.E992K NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 1031 Triple-helical region. 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) AGACCTCTTTCCCCTGGGAAA 0.383000 35 32 0 0 1 0 0 SYT7 9066 broad.mit.edu 37 11 61291312 61291312 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:61291312G>A ENST00000263846.4 - 7 1221 c.894C>T c.(892-894)atC>atT p.I298I SYT7_ENST00000539008.1_Silent_p.I581I|SYT7_ENST00000535826.1_Silent_p.I417I|SYT7_ENST00000542836.1_Silent_p.I342I|SYT7_ENST00000542670.1_Silent_p.I506I|SYT7_ENST00000540677.1_Silent_p.I373I NM_004200.3 NP_004191.2 O43581 SYT7_HUMAN synaptotagmin VII 298 C2 2. cell junction|integral to membrane|synaptic vesicle membrane transporter activity kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 ATGTGCCCCCGATGTCCATGG 0.602000 105 183 0 0 1 0 0 NTAN1 123803 broad.mit.edu 37 16 15134961 15134961 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr16:15134961C>T ENST00000287706.3 - 7 597 c.505G>A c.(505-507)Gaa>Aaa p.E169K PDXDC1_ENST00000535621.2_Intron NM_173474.2 NP_775745.1 Q96AB6 NTAN1_HUMAN N-terminal asparagine amidase 169 cytoplasm endometrium(1)|large_intestine(4)|lung(3) 8 TTTTCGTTTTCTTCCCGGTCA 0.323000 18 44 0 0 1 0 0 PIKFYVE 200576 broad.mit.edu 37 2 209167006 209167006 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:209167006C>T ENST00000264380.4 + 10 1407 c.1249C>T c.(1249-1251)Cgt>Tgt p.R417C PIKFYVE_ENST00000407449.1_Missense_Mutation_p.R417C|PIKFYVE_ENST00000308862.6_Missense_Mutation_p.R331C|PIKFYVE_ENST00000392202.3_Missense_Mutation_p.R320C NM_015040.3 NP_055855.2 Q9Y2I7 FYV1_HUMAN phosphoinositide kinase, FYVE finger containing 417 DEP. cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi early endosome membrane|membrane raft 1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 107 GGTTGATGGACGTTGGCTGGA 0.408000 21 10 0 0 1 0 0 GLDC 2731 broad.mit.edu 37 9 6533117 6533117 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr9:6533117C>T ENST00000321612.6 - 25 3113 c.2963G>A c.(2962-2964)cGg>cAg p.R988Q NM_000170.2 NP_000161.2 P23378 GCSP_HUMAN glycine dehydrogenase (decarboxylating) 988 glycine catabolic process mitochondrion electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 Acute lymphoblastic leukemia(23;0.161) GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134) Glycine(DB00145)|Pyridoxal Phosphate(DB00114) GTCATCAATCCGGGCAATCGT 0.463000 65 18 0 0 1 0 0 CNTNAP2 26047 broad.mit.edu 37 7 147815307 147815307 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:147815307C>T ENST00000361727.3 + 16 2997 c.2481C>T c.(2479-2481)ttC>ttT p.F827F NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 827 Laminin G-like 3. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) CTTTCTACTTCAAAACATTAA 0.438000 HNSCC(39;0.1) 34 63 0 0 1 0 0 FDCSP 260436 broad.mit.edu 37 4 71096926 71096926 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr4:71096926C>T ENST00000317987.5 + 2 127 c.15C>T c.(13-15)ctC>ctT p.L5L NM_152997.3 NP_694542.1 Q8NFU4 FDSCP_HUMAN follicular dendritic cell secreted protein 5 extracellular region AGAAAGTTCTCCTCCTGATCA 0.338000 20 68 0 0 1 0 0 NES 10763 broad.mit.edu 37 1 156640436 156640436 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:156640436C>T ENST00000368223.3 - 4 3676 c.3544G>A c.(3544-3546)Gga>Aga p.G1182R NM_006617.1 NP_006608.1 P48681 NEST_HUMAN nestin 1182 Tail. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4) 64 all_hematologic(923;0.088)|Hepatocellular(266;0.158) TCCTCTGCTCCCCTGGGGGCC 0.642000 24 78 0 0 1 0 0 CDH10 1008 broad.mit.edu 37 5 24488015 24488015 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:24488015C>T ENST00000264463.4 - 12 2631 c.2124G>A c.(2122-2124)acG>acA p.T708T CDH10_ENST00000502921.1_5'UTR NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 708 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) CCCGGACGTCCGTGTTATCTG 0.473000 HNSCC(23;0.051) 30 47 0 0 1 0 0 PCDH9 5101 broad.mit.edu 37 13 67799718 67799718 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr13:67799718G>A ENST00000544246.1 - 2 3546 c.2855C>T c.(2854-2856)cCa>cTa p.P952L PCDH9_ENST00000377865.2_Missense_Mutation_p.P952L|PCDH9_ENST00000456367.1_Missense_Mutation_p.P952L|PCDH9_ENST00000377861.3_Missense_Mutation_p.P952L|PCDH9_ENST00000328454.5_Missense_Mutation_p.P952L NM_203487.2 NP_982354.1 Q9HC56 PCDH9_HUMAN protocadherin 9 952 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 103 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) TGGAGTGTCTGGTTTGAGATG 0.512000 37 70 0 0 1 0 0 CLEC16A 23274 broad.mit.edu 37 16 11118684 11118684 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr16:11118684C>T ENST00000409790.1 + 13 1673 c.1443C>T c.(1441-1443)ttC>ttT p.F481F CLEC16A_ENST00000409552.3_Silent_p.F463F|CLEC16A_ENST00000465491.1_3'UTR NM_015226.2 NP_056041.1 Q2KHT3 CL16A_HUMAN C-type lectin domain family 16, member A 481 p.0?(1) breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 CCAGACCCTTCCTGGATATGG 0.542000 5 9 0 0 1 0 0 R3HCC1L 27291 broad.mit.edu 37 10 99968792 99968792 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:99968792C>T ENST00000298999.3 + 5 1224 c.921C>T c.(919-921)tcC>tcT p.S307S R3HCC1L_ENST00000314594.5_5'UTR|R3HCC1L_ENST00000370586.2_Intron|R3HCC1L_ENST00000370584.3_Silent_p.S307S NM_014472.4 NP_055287.4 R3H domain and coiled-coil containing 1-like ATACAGATTCCATTCCTGCAA 0.398000 38 81 0 0 1 0 0 RXFP2 122042 broad.mit.edu 37 13 32366042 32366042 + Missense_Mutation SNP C C G TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr13:32366042C>G ENST00000298386.2 + 15 1316 c.1245C>G c.(1243-1245)aaC>aaG p.N415K RXFP2_ENST00000380314.1_Missense_Mutation_p.N391K NM_130806.3 NP_570718.1 Q8WXD0 RXFP2_HUMAN relaxin/insulin-like family peptide receptor 2 415 integral to membrane|plasma membrane cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1) 33 Lung SC(185;0.0262) all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535) TCTTGGCTAACAATATCCTCA 0.383000 33 51 0 0 1 0 0 AKR1A1 10327 broad.mit.edu 37 1 46032265 46032265 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:46032265C>T ENST00000372070.3 + 4 856 c.109C>T c.(109-111)Ctt>Ttt p.L37F AKR1A1_ENST00000471651.1_3'UTR|AKR1A1_ENST00000351829.4_Missense_Mutation_p.L37F NM_001202413.1|NM_001202414.1|NM_006066.3 NP_001189342.1|NP_001189343.1|NP_006057.1 P14550 AK1A1_HUMAN aldo-keto reductase family 1, member A1 (aldehyde reductase) 37 glucose metabolic process alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding lung(3)|prostate(1)|urinary_tract(1) 5 Acute lymphoblastic leukemia(166;0.155) TAAGTATGCCCTTAGCGTAGG 0.527000 28 81 0 0 1 0 0 SLC26A7 115111 broad.mit.edu 37 8 92401586 92401586 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:92401586C>T ENST00000276609.3 + 16 1935 c.1696C>T c.(1696-1698)Cct>Tct p.P566S SLC26A7_ENST00000523719.1_Missense_Mutation_p.P566S|SLC26A7_ENST00000520249.1_3'UTR|SLC26A7_ENST00000309536.2_Missense_Mutation_p.P566S NM_052832.2 NP_439897.1 Q8TE54 S26A7_HUMAN solute carrier family 26 (anion exchanger), member 7 566 STAS. basolateral plasma membrane|integral to membrane|recycling endosome membrane anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 50 BRCA - Breast invasive adenocarcinoma(11;0.00802) ACAGTCCTGCCCTAATGAGAA 0.423000 70 150 0 0 1 0 0 DPY19L2P2 349152 broad.mit.edu 37 7 102898138 102898138 + RNA SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:102898138C>T ENST00000312132.4 - 0 2434 TTCACTATTCCCATGAATGTG 0.333000 46 55 0 0 1 0 0 TRGC2 6967 broad.mit.edu 37 7 38288965 38288965 + RNA SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:38288965C>T ENST00000436911.2 - 0 208 AGCTAAATTTCATGTATGTGT 0.388000 66 87 0 0 1 0 0 OR10AD1 121275 broad.mit.edu 37 12 48596794 48596794 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:48596794G>A ENST00000310248.2 - 1 376 c.282C>T c.(280-282)tcC>tcT p.S94S NM_001004134.1 NP_001004134.1 Q8NGE0 O10AD_HUMAN olfactory receptor, family 10, subfamily AD, member 1 94 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|urinary_tract(1) 9 AACATACAAAGGAGACAATGT 0.498000 15 19 0 0 1 0 0 PSG8 440533 broad.mit.edu 37 19 43258544 43258544 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:43258544G>A ENST00000404209.4 - 5 1280 c.1184C>T c.(1183-1185)tCt>tTt p.S395F PSG8_ENST00000600709.1_5'UTR|PSG8_ENST00000406636.3_Missense_Mutation_p.S273F|PSG8_ENST00000306511.4_Missense_Mutation_p.S395F|PSG8_ENST00000401467.2_Missense_Mutation_p.S302F NM_001130167.1 NP_001123639.1 Q9UQ74 PSG8_HUMAN pregnancy specific beta-1-glycoprotein 8 395 Ig-like C2-type 3. extracellular region breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 40 Prostate(69;0.00899) GTTACGAACAGAGCAAGCATA 0.448000 101 185 0 0 1 0 0 CELSR2 1952 broad.mit.edu 37 1 109801499 109801499 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:109801499C>T ENST00000271332.3 + 2 3817 c.3756C>T c.(3754-3756)tcC>tcT p.S1252S NM_001408.2 NP_001399.1 Q9HCU4 CELR2_HUMAN cadherin, EGF LAG seven-pass G-type receptor 2 1252 EGF-like 1; calcium-binding. dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2) 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) TCGACTCCTCCGCGCCCTTCA 0.692000 8 7 0 0 1 0 0 NEURL4 84461 broad.mit.edu 37 17 7221174 7221174 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:7221174G>A ENST00000399464.2 - 26 4153 c.4138C>T c.(4138-4140)Cac>Tac p.H1380Y NEURL4_ENST00000315614.7_Missense_Mutation_p.H1378Y|NEURL4_ENST00000574120.1_5'UTR|NEURL4_ENST00000570460.1_Missense_Mutation_p.H1356Y|RP11-542C16.2_ENST00000575474.1_Silent_p.P193P NM_032442.2 NP_115818.2 neuralized E3 ubiquitin protein ligase 4 central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 CTGCGCCTGTGGGCCTCGTCT 0.587000 31 26 0 0 1 0 0 TAZ 6901 broad.mit.edu 37 X 153641566 153641566 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:153641566C>T ENST00000299328.5 + 3 550 c.261C>T c.(259-261)atC>atT p.I87I TAZ_ENST00000369776.4_Silent_p.I62I|TAZ_ENST00000350743.4_Silent_p.I87I|TAZ_ENST00000351413.4_Silent_p.I87I|TAZ_ENST00000369790.4_Silent_p.I87I NM_000116.3 NP_000107.1 Q16635 TAZ_HUMAN tafazzin 87 cardiac muscle contraction|cardiac muscle tissue development|cardiolipin biosynthetic process|cristae formation|hemopoiesis|mitochondrial ATP synthesis coupled electron transport|mitochondrial respiratory chain complex I assembly|skeletal muscle tissue development integral to membrane|mitochondrion 1-acylglycerophosphocholine O-acyltransferase activity lung(1) 1 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TCCGCCACATCTGGAACCTGA 0.607000 20 42 0 0 1 0 0 CPSF2 53981 broad.mit.edu 37 14 92625555 92625555 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr14:92625555G>A ENST00000298875.4 + 14 2335 c.2050G>A c.(2050-2052)Gga>Aga p.G684R NM_017437.2 NP_059133.1 Q9P2I0 CPSF2_HUMAN cleavage and polyadenylation specific factor 2, 100kDa 684 histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription mRNA cleavage and polyadenylation specificity factor complex hydrolase activity|protein binding|RNA binding breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 24 all_cancers(154;0.0766) COAD - Colon adenocarcinoma(157;0.222) AAGTCTGTTCGGAGATGATGA 0.413000 28 40 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132471079 132471079 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:132471079C>T ENST00000333577.4 + 7 2167 c.2058C>T c.(2056-2058)ctC>ctT p.L686L EP400_ENST00000389561.2_Silent_p.L650L|EP400_ENST00000330386.6_Silent_p.L650L|EP400_ENST00000389562.2_Silent_p.L649L|EP400_ENST00000332482.4_Silent_p.L613L Q96L91 EP400_HUMAN E1A binding protein p400 686 histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) CGACAAGGCTCCCTGTGGACC 0.652000 38 95 0 0 1 0 0 TGM5 9333 broad.mit.edu 37 15 43552363 43552363 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr15:43552363G>A ENST00000220420.5 - 3 330 c.323C>T c.(322-324)cCc>cTc p.P108L TGM5_ENST00000349114.4_Intron NM_201631.3 NP_963925.2 O43548 TGM5_HUMAN transglutaminase 5 108 epidermis development|peptide cross-linking cytoplasm acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(11)|lung(15)|skin(6)|urinary_tract(1) 44 all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;4e-07) L-Glutamine(DB00130) GGCCGCCGTGGGAGGAGCGCA 0.612000 45 62 0 0 1 0 0 ZNF185 7739 broad.mit.edu 37 X 152113854 152113854 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:152113854G>A ENST00000535861.1 + 17 1396 c.1348G>A c.(1348-1350)Gga>Aga p.G450R ZNF185_ENST00000539731.1_Missense_Mutation_p.G421R|ZNF185_ENST00000318504.7_Missense_Mutation_p.G359R|ZNF185_ENST00000318529.8_Missense_Mutation_p.G197R|ZNF185_ENST00000449285.2_Missense_Mutation_p.G419R|ZNF185_ENST00000370268.4_Missense_Mutation_p.G418R|ZNF185_ENST00000324823.6_Missense_Mutation_p.G186R|ZNF185_ENST00000370270.1_Missense_Mutation_p.G181R NM_001178106.1 NP_001171577.1 O15231 ZN185_HUMAN zinc finger protein 185 (LIM domain) 418 cytoplasm|cytoskeleton|focal adhesion zinc ion binding NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3) 12 Acute lymphoblastic leukemia(192;6.56e-05) CACCAGGGTCGGAGAGGCCTG 0.582000 5 11 0 0 1 0 0 FMOD 2331 broad.mit.edu 37 1 203317164 203317164 + Nonsense_Mutation SNP C C A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:203317164C>A ENST00000354955.4 - 2 698 c.235G>T c.(235-237)Gag>Tag p.E79* FMOD_ENST00000464898.1_Splice_Site NM_002023.4 NP_002014.2 Q06828 FMOD_HUMAN fibromodulin 79 Cys-rich.|LRRNT. transforming growth factor beta receptor complex assembly extracellular space|proteinaceous extracellular matrix breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 17 BRCA - Breast invasive adenocarcinoma(75;0.171) CAGTCGCACTCCTGGGGGCAG 0.597000 11 9 6.40141e-05 6.42256e-05 1 1 0 ADAD1 132612 broad.mit.edu 37 4 123302227 123302227 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr4:123302227G>A ENST00000296513.2 + 4 438 c.253G>A c.(253-255)Gaa>Aaa p.E85K ADAD1_ENST00000388724.2_Missense_Mutation_p.E85K|ADAD1_ENST00000388725.2_Missense_Mutation_p.E67K|ADAD1_ENST00000492454.1_3'UTR NM_139243.3 NP_640336.1 Q96M93 ADAD1_HUMAN adenosine deaminase domain containing 1 (testis-specific) 85 multicellular organismal development|RNA processing nucleus adenosine deaminase activity|double-stranded RNA binding p.E85K(1) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 35 AATACCTAAGGAATTTATAAT 0.368000 33 37 0 0 1 0 0 ARID1A 8289 broad.mit.edu 37 1 27101169 27101169 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:27101169C>T ENST00000324856.7 + 18 4822 c.4451C>T c.(4450-4452)cCc>cTc p.P1484L ARID1A_ENST00000374152.2_Missense_Mutation_p.P1101L|ARID1A_ENST00000540690.1_Intron|ARID1A_ENST00000457599.2_Intron NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 1484 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) ATGGGCGGCCCCATACAGGCA 0.567000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 29 65 0 0 1 0 0 CCDC132 55610 broad.mit.edu 37 7 92983007 92983007 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:92983007C>T ENST00000544910.1 + 27 2649 c.2429C>T c.(2428-2430)cCc>cTc p.P810L CCDC132_ENST00000305866.5_Missense_Mutation_p.P840L|CCDC132_ENST00000535481.1_Missense_Mutation_p.P560L|CCDC132_ENST00000541136.1_3'UTR|CCDC132_ENST00000474412.1_3'UTR NM_001257998.1 NP_001244927.1 Q96JG6 CC132_HUMAN coiled-coil domain containing 132 840 endometrium(1)|large_intestine(2)|lung(5) 8 all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837) STAD - Stomach adenocarcinoma(171;0.000302) GTTCGCATACCCTTGCCTGTG 0.343000 63 86 0 0 1 0 0 EFHB 151651 broad.mit.edu 37 3 19975465 19975465 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:19975465C>T ENST00000295824.9 - 1 207 c.46G>A c.(46-48)Gga>Aga p.G16R EFHB_ENST00000344838.4_Intron|EFHB_ENST00000498089.1_5'UTR NM_144715.3 NP_653316.3 Q8N7U6 EFHB_HUMAN EF-hand domain family, member B 16 signal transduction proteinaceous extracellular matrix calcium ion binding breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1) 26 CTCTTGTCTCCTAAATCATCC 0.483000 7 10 0 0 1 0 0 SLC39A12 221074 broad.mit.edu 37 10 18250715 18250715 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:18250715C>T ENST00000377369.2 + 3 740 c.467C>T c.(466-468)tCc>tTc p.S156F SLC39A12_ENST00000539911.1_Missense_Mutation_p.S22F|SLC39A12_ENST00000377371.3_Missense_Mutation_p.S156F|SLC39A12_ENST00000377374.4_Missense_Mutation_p.S156F NM_001145195.1 NP_001138667.1 Q504Y0 S39AC_HUMAN solute carrier family 39 (zinc transporter), member 12 156 zinc ion transport integral to membrane metal ion transmembrane transporter activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 GATGAAGATTCCTCTTTCCTT 0.403000 20 43 0 0 1 0 0 TRPC1 7220 broad.mit.edu 37 3 142525009 142525009 + Nonsense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:142525009C>T ENST00000273482.6 + 12 2603 c.2212C>T c.(2212-2214)Cga>Tga p.R738* TRPC1_ENST00000476941.1_Nonsense_Mutation_p.R772* NM_003304.4 NP_003295.1 P48995 TRPC1_HUMAN transient receptor potential cation channel, subfamily C, member 1 772 axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion cytosol|integral to plasma membrane protein binding|store-operated calcium channel activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1) 37 GTCAAAATTCCGAAATGAAAT 0.363000 20 35 0 0 1 0 0 PIK3R5 23533 broad.mit.edu 37 17 8785189 8785189 + Missense_Mutation SNP T T G TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:8785189T>G ENST00000447110.1 - 16 2339 c.2215A>C c.(2215-2217)Agt>Cgt p.S739R PIK3R5_ENST00000581552.1_Missense_Mutation_p.S739R|PIK3R5_ENST00000584803.1_Missense_Mutation_p.S738R NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1 NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1 Q8WYR1 PI3R5_HUMAN phosphoinositide-3-kinase, regulatory subunit 5 739 Interaction with G beta gamma proteins (By similarity). platelet activation cytosol|membrane|nucleus breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1) 34 CTTCGTCCACTGATGGCCCCC 0.612000 9 13 0 0 1 0 0 MRPS17 51373 broad.mit.edu 37 7 56020908 56020908 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:56020908C>T ENST00000285298.4 + 2 149 c.20C>T c.(19-21)tCc>tTc p.S7F MRPS17_ENST00000426595.1_Missense_Mutation_p.S102F NM_015969.2 NP_057053.1 Q9Y2R5 RT17_HUMAN mitochondrial ribosomal protein S17 7 translation mitochondrial small ribosomal subunit rRNA binding|structural constituent of ribosome kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1) 8 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) GTTCGCTCATCCGTCCATGCC 0.433000 72 68 0 0 1 0 0 GPATCH8 23131 broad.mit.edu 37 17 42477276 42477276 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:42477276G>A ENST00000434000.1 - 9 2217 c.1935C>T c.(1933-1935)gcC>gcT p.A645A GPATCH8_ENST00000591680.1_Silent_p.A723A Q9UKJ3 GPTC8_HUMAN G patch domain containing 8 723 intracellular nucleic acid binding|zinc ion binding breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 50 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.206) AATCTGCTGGGGCTGATGACT 0.517000 45 68 0 0 1 0 0 PLA2G4D 283748 broad.mit.edu 37 15 42363026 42363026 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr15:42363026G>A ENST00000290472.3 - 18 2026 c.1932C>T c.(1930-1932)tgC>tgT p.C644C NM_178034.3 NP_828848.3 Q86XP0 PA24D_HUMAN phospholipase A2, group IVD (cytosolic) 644 PLA2c. phospholipid catabolic process cytoplasmic vesicle membrane|cytosol metal ion binding|phospholipase A2 activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1) 27 all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245) OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06) CGTCCACCAGGCAGAGCCGGG 0.632000 7 11 0 0 1 0 0 SIX3 6496 broad.mit.edu 37 2 45169510 45169510 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:45169510G>A ENST00000260653.3 + 1 609 c.267G>A c.(265-267)ccG>ccA p.P89P NM_005413.3 NP_005404.1 O95343 SIX3_HUMAN SIX homeobox 3 89 visual perception nucleus haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|skin(1) 11 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) ACTTCTCGCCGGAGCAGGTGG 0.746000 10 19 0 0 1 0 0 SLC43A2 124935 broad.mit.edu 37 17 1519990 1519990 + Nonsense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:1519990C>T ENST00000571650.1 - 3 540 c.234G>A c.(232-234)tgG>tgA p.W78* SLC43A2_ENST00000301335.4_Nonsense_Mutation_p.W78*|SLC43A2_ENST00000382147.4_Nonsense_Mutation_p.W78* Q8N370 LAT4_HUMAN solute carrier family 43 (amino acid system L transporter), member 2 78 cellular nitrogen compound metabolic process|ion transport integral to membrane|plasma membrane endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1) 12 UCEC - Uterine corpus endometrioid carcinoma (25;0.0883) GGCAGCTGAGCCAGCCGTTCA 0.592000 23 38 0 0 1 0 0 FGFR4 2264 broad.mit.edu 37 5 176520155 176520155 + Nonsense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:176520155G>A ENST00000292408.4 + 9 1319 c.1074G>A c.(1072-1074)tgG>tgA p.W358* FGFR4_ENST00000292410.3_Intron|FGFR4_ENST00000502906.1_Nonsense_Mutation_p.W358*|FGFR4_ENST00000393637.1_Intron|FGFR4_ENST00000393648.2_Nonsense_Mutation_p.W358* NM_002011.3|NM_213647.1 NP_002002.3|NP_998812.1 P22455 FGFR4_HUMAN fibroblast growth factor receptor 4 358 insulin receptor signaling pathway|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 34 all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Palifermin(DB00039) ACCCCACATGGACCGCAGCAG 0.642000 TSP Lung(9;0.080) 14 16 0 0 1 0 0 CREBBP 1387 broad.mit.edu 37 16 3781357 3781357 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr16:3781357G>A ENST00000262367.5 - 30 5817 c.5008C>T c.(5008-5010)Ctc>Ttc p.L1670F CREBBP_ENST00000382070.3_Missense_Mutation_p.L1632F NM_004380.2 NP_004371.2 Q92793 CBP_HUMAN CREB binding protein 1670 Interaction with TRERF1. cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) TCTCTGGCGAGGGTGAGGAAG 0.662000 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 5 10 0 0 1 0 0 FCRL2 79368 broad.mit.edu 37 1 157737157 157737157 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:157737157C>T ENST00000361516.3 - 6 1074 c.1026G>A c.(1024-1026)ggG>ggA p.G342G FCRL2_ENST00000392274.3_Silent_p.G342G|FCRL2_ENST00000368181.4_Intron|FCRL2_ENST00000469986.1_Silent_p.G89G NM_030764.3 NP_110391.2 Q96LA5 FCRL2_HUMAN Fc receptor-like 2 342 Ig-like C2-type 4. cell-cell signaling integral to membrane|plasma membrane|soluble fraction receptor activity|SH3/SH2 adaptor activity central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2) 51 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) CCGAGCTGTTCCCAAGGGTGA 0.582000 31 71 0 0 1 0 0 DENND2A 27147 broad.mit.edu 37 7 140218518 140218518 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:140218518G>A ENST00000275884.6 - 19 3436 c.3019C>T c.(3019-3021)Cac>Tac p.H1007Y DENND2A_ENST00000537639.1_Missense_Mutation_p.H1007Y|DENND2A_ENST00000496613.1_Missense_Mutation_p.H1007Y Q9ULE3 DEN2A_HUMAN DENN/MADD domain containing 2A 1007 breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 49 Melanoma(164;0.00956) TATTTCTTGTGGAGAAATTTC 0.428000 12 38 0 0 1 0 0 HTR1D 3352 broad.mit.edu 37 1 23520170 23520170 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:23520170G>A ENST00000374619.1 - 1 1052 c.543C>T c.(541-543)gcC>gcT p.A181A HTR1D_ENST00000314113.3_Silent_p.A181A NM_000864.4 NP_000855.1 P28221 5HT1D_HUMAN 5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled 181 G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission integral to plasma membrane serotonin receptor activity NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 9 Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561) UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185) Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315) TCTCCTCCTGGGCCTTGGCCT 0.602000 20 42 0 0 1 0 0 A1CF 29974 broad.mit.edu 37 10 52573681 52573681 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:52573681C>T ENST00000395489.2 - 12 1658 c.1262G>A c.(1261-1263)gGg>gAg p.G421E A1CF_ENST00000282641.2_Missense_Mutation_p.G428E|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000374001.1_Missense_Mutation_p.G420E|A1CF_ENST00000373993.1_Missense_Mutation_p.G428E|A1CF_ENST00000373995.3_Missense_Mutation_p.G428E|A1CF_ENST00000395495.1_Missense_Mutation_p.G373E|A1CF_ENST00000373997.3_Missense_Mutation_p.G420E|A1CF_ENST00000493415.1_5'UTR NM_001198819.1 NP_001185748.1 Q9NQ94 A1CF_HUMAN APOBEC1 complementation factor 428 cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3) 29 GAGCTCCATCCCAGGTAAAAT 0.463000 35 62 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13830774 13830774 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:13830774C>T ENST00000265104.4 - 36 6097 c.5993G>A c.(5992-5994)gGg>gAg p.G1998E NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1998 AAA 1 (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) GACGTATTTCCCGAGGCATCG 0.488000 Kartagener syndrome 33 48 0 0 1 0 0 SPO11 23626 broad.mit.edu 37 20 55905032 55905032 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr20:55905032G>A ENST00000371263.3 + 1 218 c.109G>A c.(109-111)Ggg>Agg p.G37R SPO11_ENST00000371260.4_Missense_Mutation_p.G37R|SPO11_ENST00000345868.4_Missense_Mutation_p.G37R NM_012444.2 NP_036576.1 Q9Y5K1 SPO11_HUMAN SPO11 meiotic protein covalently bound to DSB 37 female gamete generation|reciprocal meiotic recombination chromosome|nucleus ATP binding|DNA binding|hydrolase activity autonomic_ganglia(1)|breast(3)|large_intestine(4)|lung(8)|skin(2) 18 Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09) GCCCCCAACTGGGGGAAGCCG 0.677000 Editing and processing nucleases 10 14 0 0 1 0 0 ITM2A 9452 broad.mit.edu 37 X 78622602 78622602 + Splice_Site SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:78622602C>T ENST00000434584.2 - 1 447 c.111_splice c.e1+1 p.K37_splice ITM2A_ENST00000373298.2_Splice_Site_p.K37_splice NM_001171581.1 NP_001165052.1 O43736 ITM2A_HUMAN integral membrane protein 2A 37 integral to membrane protein binding breast(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 18 GGACAGCTACCTTGCCGGTCA 0.622000 6 10 0 0 1 0 0 CBLB 868 broad.mit.edu 37 3 105586348 105586348 + Missense_Mutation SNP A A T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:105586348A>T ENST00000264122.4 - 2 395 c.74T>A c.(73-75)aTt>aAt p.I25N CBLB_ENST00000394027.3_Missense_Mutation_p.I47N|CBLB_ENST00000405772.1_Missense_Mutation_p.I25N|CBLB_ENST00000545639.1_Missense_Mutation_p.I47N|CBLB_ENST00000403724.1_Missense_Mutation_p.I25N NM_170662.3 NP_733762.2 Q13191 CBLB_HUMAN Cbl proto-oncogene B, E3 ubiquitin protein ligase 25 cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus cytoplasm|nucleus calcium ion binding|ligase activity|signal transducer activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2) 49 AGCATCAATAATACCCAAAAT 0.473000 Mis S AML 67 73 0 0 1 0 0 PARP4 143 broad.mit.edu 37 13 25064876 25064876 + Missense_Mutation SNP T T C TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr13:25064876T>C ENST00000381989.3 - 10 1249 c.1144A>G c.(1144-1146)Att>Gtt p.I382V NM_006437.3 NP_006428.2 Q9UKK3 PARP4_HUMAN poly (ADP-ribose) polymerase family, member 4 382 PARP catalytic. cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052) all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195) ACATGCTCAATTTTGCACCTC 0.408000 31 52 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168115396 168115396 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:168115396G>A ENST00000409728.1 + 11 2528 c.2439G>A c.(2437-2439)ctG>ctA p.L813L XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409605.1_Silent_p.L558L|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000420519.1_Silent_p.L813L|XIRP2_ENST00000409756.2_Silent_p.L780L|XIRP2_ENST00000409043.1_Silent_p.L780L|XIRP2_ENST00000409195.1_3'UTR NM_001199143.1 NP_001186072.1 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 102 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 CAATGGCTCTGAAGAAACAGA 0.428000 12 25 0 0 1 0 0 C8orf31 286122 broad.mit.edu 37 8 144124662 144124662 + Nonsense_Mutation SNP G G T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:144124662G>T ENST00000395172.1 + 3 521 c.169G>T c.(169-171)Gag>Tag p.E57* C8orf31_ENST00000517653.1_3'UTR NM_173687.2 NP_775958.1 Q8N9H6 CH031_HUMAN chromosome 8 open reading frame 31 57 breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1) 10 all_cancers(97;1.89e-10)|all_epithelial(106;8.73e-09)|Lung NSC(106;0.000161)|all_lung(105;0.000447)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155) AGAGATCTGGGAGTCCACAAC 0.607000 8 13 0.00307968 0.00308522 1 1 0 AMZ2 51321 broad.mit.edu 37 17 66251959 66251959 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:66251959C>T ENST00000359904.3 + 6 2001 c.869C>T c.(868-870)cCt>cTt p.P290L AMZ2_ENST00000392720.2_Missense_Mutation_p.P290L|AMZ2_ENST00000577866.1_Missense_Mutation_p.P290L|AMZ2_ENST00000359783.4_Missense_Mutation_p.P232L|AMZ2_ENST00000585050.1_Intron|AMZ2_ENST00000577273.1_Intron|AMZ2_ENST00000577985.1_Missense_Mutation_p.P290L|AMZ2_ENST00000580753.1_Missense_Mutation_p.P290L NM_016627.4 NP_057711.3 Q86W34 AMZ2_HUMAN archaelysin family metallopeptidase 2 290 metallopeptidase activity|zinc ion binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3) 9 all_cancers(12;1.12e-09) BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24) AACCTTTGCCCTATCTGTTTG 0.507000 23 37 0 0 1 0 0 KCNH5 27133 broad.mit.edu 37 14 63269171 63269171 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr14:63269171G>A ENST00000322893.7 - 9 1966 c.1698C>T c.(1696-1698)ttC>ttT p.F566F KCNH5_ENST00000394968.1_Silent_p.F508F|KCNH5_ENST00000420622.2_Silent_p.F566F NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 566 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) GAATGGTTTGGAACTCTACCG 0.512000 23 47 0 0 1 0 0 IFIT3 3437 broad.mit.edu 37 10 91099088 91099088 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:91099088G>A ENST00000371818.4 + 2 856 c.676G>A c.(676-678)Gga>Aga p.G226R LIPA_ENST00000487618.1_Intron|IFIT3_ENST00000371811.4_Missense_Mutation_p.G226R|LIPA_ENST00000371837.1_Intron NM_001549.4 NP_001540.2 O14879 IFIT3_HUMAN interferon-induced protein with tetratricopeptide repeats 3 226 type I interferon-mediated signaling pathway protein binding breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1) 15 AGAAGCTGAAGGAGAGCAGTT 0.443000 28 27 0 0 1 0 0 IGHM 3507 broad.mit.edu 37 14 106321105 106321105 + RNA SNP C C A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr14:106321105C>A ENST00000390559.2 - 0 883 CCCGGAATTCCAGTCATCCTC 0.612000 12 21 3.07112e-06 3.08868e-06 1 1 0 OR52L1 338751 broad.mit.edu 37 11 6008078 6008078 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:6008078G>A ENST00000332249.4 - 1 137 c.83C>T c.(82-84)cCt>cTt p.P28L NM_001005173.2 NP_001005173.2 Q8NGH7 O52L1_HUMAN olfactory receptor, family 52, subfamily L, member 1 28 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1) 30 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) GAGAAAAGAAGGCTGGGATAG 0.468000 12 31 0 0 1 0 0 COL4A5 1287 broad.mit.edu 37 X 107920799 107920799 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:107920799C>T ENST00000328300.6 + 44 4122 c.3878C>T c.(3877-3879)cCa>cTa p.P1293L COL4A5_ENST00000361603.2_Missense_Mutation_p.P1287L NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 1287 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 AAGGGAAATCCAGGCCAACCT 0.483000 Alport syndrome with Diffuse Leiomyomatosis 41 44 0 0 1 0 0 PCDHB12 56124 broad.mit.edu 37 5 140589607 140589607 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:140589607G>A ENST00000239450.2 + 1 1317 c.1128G>A c.(1126-1128)ggG>ggA p.G376G PCDHB12_ENST00000541609.1_Silent_p.G39G NM_018932.3 NP_061755.1 Q9Y5F1 PCDBC_HUMAN 376 Cadherin 4. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GAGACTCTGGGGACAACGGAA 0.453000 28 35 0 0 1 0 0 HOXD1 3231 broad.mit.edu 37 2 177054765 177054765 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:177054765C>T ENST00000331462.4 + 2 1105 c.882C>T c.(880-882)gcC>gcT p.A294A NM_024501.1 NP_078777.1 Q9GZZ0 HXD1_HUMAN homeobox D1 294 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) GGCTTCTGGCCACGGCCATTC 0.532000 51 78 0 0 1 0 0 EXOSC7 23016 broad.mit.edu 37 3 45052822 45052822 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:45052822C>T ENST00000265564.7 + 8 915 c.867C>T c.(865-867)ttC>ttT p.F289F CLEC3B_ENST00000490386.1_Intron|EXOSC7_ENST00000461361.1_3'UTR NM_015004.3 NP_055819.2 Q15024 EXOS7_HUMAN exosome component 7 289 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing cytosol|exosome (RNase complex)|nucleolus 3'-5'-exoribonuclease activity|protein binding|RNA binding endometrium(3)|large_intestine(1)|lung(3) 7 BRCA - Breast invasive adenocarcinoma(193;0.00911)|KIRC - Kidney renal clear cell carcinoma(197;0.0509)|Kidney(197;0.064) AAGTTGGATTCCTGGGATGAT 0.448000 10 18 0 0 1 0 0 VAX1 11023 broad.mit.edu 37 10 118897433 118897433 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:118897433C>T ENST00000277905.2 - 1 379 c.135G>A c.(133-135)aaG>aaA p.K45K VAX1_ENST00000369206.5_Silent_p.K45K NM_199131.2 NP_954582.1 Q5SQQ9 VAX1_HUMAN ventral anterior homeobox 1 45 nucleus sequence-specific DNA binding endometrium(1)|large_intestine(1)|lung(8)|ovary(2) 12 all cancers(201;0.0108) CCTGCGGCTCCTTGAGGAAGG 0.652000 30 58 0 0 1 0 0 VIL1 7429 broad.mit.edu 37 2 219289047 219289047 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:219289047C>T ENST00000248444.5 + 3 211 c.123C>T c.(121-123)ttC>ttT p.F41F VIL1_ENST00000392114.2_Intron|VIL1_ENST00000440053.1_Silent_p.F41F NM_007127.2 NP_009058.2 P09327 VILI_HUMAN villin 1 41 Core.|Necessary for homodimerization. actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 Renal(207;0.0474) Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GAAGCTTCTTCGATGGTGACT 0.592000 39 22 0 0 1 0 0 MEOX2 4223 broad.mit.edu 37 7 15666370 15666370 + Splice_Site SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:15666370C>T ENST00000262041.5 - 2 1100 c.e2+1 NM_005924.4 NP_005915.2 P50222 MEOX2_HUMAN mesenchyme homeobox 2 blood circulation|multicellular organismal development cytoplasm|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 24 UCEC - Uterine corpus endometrioid carcinoma (126;0.0822) CCCAGCTTTACCTGTCTTTCA 0.393000 45 52 0 0 1 0 0 MYO10 4651 broad.mit.edu 37 5 16701760 16701760 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:16701760G>A ENST00000513610.1 - 25 3198 c.2744C>T c.(2743-2745)tCc>tTc p.S915F MYO10_ENST00000515803.1_Missense_Mutation_p.S254F|MYO10_ENST00000505695.1_Missense_Mutation_p.S254F|MYO10_ENST00000427430.2_Missense_Mutation_p.S272F|MYO10_ENST00000274203.9_Missense_Mutation_p.S272F NM_012334.2 NP_036466.2 Q9HD67 MYO10_HUMAN myosin X 915 axon guidance|signal transduction myosin complex actin binding|ATP binding|motor activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 86 CTTCTGCAGGGAAGCCTCGGT 0.607000 11 20 0 0 1 0 0 C17orf97 400566 broad.mit.edu 37 17 263083 263083 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:263083C>T ENST00000360127.6 + 2 465 c.449C>T c.(448-450)aCc>aTc p.T150I AC108004.3_ENST00000466740.2_RNA|C17orf97_ENST00000571106.1_Intron NM_001013672.4 NP_001013694.4 Q6ZQX7 CQ097_HUMAN chromosome 17 open reading frame 97 150 breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1) 14 GACTCCTCCACCGTCAGCCTC 0.522000 32 59 0 0 1 0 0 CDC34 997 broad.mit.edu 37 19 536324 536324 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:536324C>T ENST00000215574.4 + 3 564 c.346C>T c.(346-348)Ccc>Tcc p.P116S NM_004359.1 NP_004350.1 P49427 UB2R1_HUMAN cell division cycle 34 116 DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|negative regulation of cAMP-mediated signaling|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination cytoplasm|nucleus ATP binding|protein binding|ubiquitin-protein ligase activity large_intestine(1)|lung(1) 2 all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GAGGTGGAACCCCACGCAGAA 0.642000 7 4 0 0 1 0 0 ANGEL1 23357 broad.mit.edu 37 14 77270233 77270233 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr14:77270233G>A ENST00000251089.2 - 6 1515 c.1403C>T c.(1402-1404)tCc>tTc p.S468F ANGEL1_ENST00000557179.1_Missense_Mutation_p.S33F NM_015305.3 NP_056120.2 Q9UNK9 ANGE1_HUMAN angel homolog 1 (Drosophila) 468 breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1) 22 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0285) AAGCTGATGGGAGAAGTCTTC 0.512000 58 104 0 0 1 0 0 GLI2 2736 broad.mit.edu 37 2 121742133 121742133 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:121742133C>T ENST00000452319.1 + 12 1830 c.1770C>T c.(1768-1770)ggC>ggT p.G590G GLI2_ENST00000314490.11_Silent_p.G262G|GLI2_ENST00000361492.4_Silent_p.G590G|GLI2_ENST00000435313.2_3'UTR P10070 GLI2_HUMAN GLI family zinc finger 2 590 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(3;0.0496) Prostate(154;0.0623) CGGTCCACGGCCCAGATGCCC 0.602000 69 76 0 0 1 0 0 PRRG3 79057 broad.mit.edu 37 X 150869341 150869341 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:150869341C>T ENST00000370353.3 + 4 922 c.532C>T c.(532-534)Cct>Tct p.P178S PRRG3_ENST00000538575.1_Missense_Mutation_p.P178S Q9BZD7 TMG3_HUMAN proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane) 178 extracellular region|integral to membrane calcium ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3) 24 Acute lymphoblastic leukemia(192;6.56e-05) CCTCTACCTCCCTGAGCTCTC 0.677000 20 46 0 0 1 0 0 TRPM3 80036 broad.mit.edu 37 9 73235150 73235150 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr9:73235150G>A ENST00000377110.2 - 15 2178 c.1935C>T c.(1933-1935)ctC>ctT p.L645L TRPM3_ENST00000360823.2_Silent_p.L507L|TRPM3_ENST00000358082.3_Silent_p.L507L|TRPM3_ENST00000377111.2_Silent_p.L645L|TRPM3_ENST00000377105.1_Silent_p.L504L|TRPM3_ENST00000396292.4_Silent_p.L517L|TRPM3_ENST00000408909.2_Silent_p.L504L|TRPM3_ENST00000423814.3_Silent_p.L672L|TRPM3_ENST00000396280.5_Silent_p.L494L|TRPM3_ENST00000357533.2_Silent_p.L649L|TRPM3_ENST00000377106.1_Silent_p.L517L|TRPM3_ENST00000396285.1_Silent_p.L492L NM_001007471.2 NP_001007472.2 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, subfamily M, member 3 670 integral to membrane calcium channel activity NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1) 95 GCCGCTTCATGAGAACAGCCC 0.552000 59 17 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195496024 195496024 + Splice_Site SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:195496024C>T ENST00000463781.3 - 7 13858 c.e7-1 MUC4_ENST00000349607.4_Splice_Site|MUC4_ENST00000346145.4_Splice_Site|MUC4_ENST00000475231.1_Splice_Site NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) AGGTGTTGCTCTGGGGGTGGG 0.632000 10 14 0 0 1 0 0 ZNF208 7757 broad.mit.edu 37 19 22154397 22154397 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:22154397C>T ENST00000397126.4 - 4 3587 c.3439G>A c.(3439-3441)Ggc>Agc p.G1147S ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron NM_007153.3 NP_009084.2 zinc finger protein 208 breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 113 all_lung(12;0.0961)|Lung NSC(12;0.103) TAGGCTTTGCCACATTCTTCA 0.363000 11 17 0 0 1 0 0 CUX2 23316 broad.mit.edu 37 12 111746270 111746270 + Nonsense_Mutation SNP G G T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:111746270G>T ENST00000261726.6 + 14 1352 c.1198G>T c.(1198-1200)Gag>Tag p.E400* NM_015267.3 NP_056082.2 O14529 CUX2_HUMAN cut-like homeobox 2 400 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 55 TATTGCAAAGGAGGCCTTCTT 0.627000 14 30 2.32078e-09 2.3404e-09 1 1 0 PIK3CG 5294 broad.mit.edu 37 7 106526692 106526692 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:106526692G>A ENST00000359195.3 + 10 3295 c.2985G>A c.(2983-2985)atG>atA p.M995I PIK3CG_ENST00000496166.1_Missense_Mutation_p.M995I|PIK3CG_ENST00000440650.2_Missense_Mutation_p.M995I NM_002649.2 NP_002640.2 P48736 PK3CG_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma 995 PI3K/PI4K. G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation phosphatidylinositol 3-kinase complex 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 132 TCTTTGTGATGGGAACTTCTG 0.453000 15 49 0 0 1 0 0 WNK2 65268 broad.mit.edu 37 9 96019254 96019254 + Missense_Mutation SNP C C G TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr9:96019254C>G ENST00000297954.4 + 10 2215 c.2215C>G c.(2215-2217)Ccc>Gcc p.P739A WNK2_ENST00000395475.2_Missense_Mutation_p.P673A|WNK2_ENST00000427277.2_Missense_Mutation_p.P351A|WNK2_ENST00000395477.2_Missense_Mutation_p.P739A|WNK2_ENST00000349097.3_Missense_Mutation_p.P351A|WNK2_ENST00000356055.3_5'UTR Q9Y3S1 WNK2_HUMAN WNK lysine deficient protein kinase 2 739 intracellular protein kinase cascade ATP binding|protein binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2) 54 CCAGCCGACACCCCTGCCGCA 0.687000 6 2 0 0 1 0 0 GALR2 8811 broad.mit.edu 37 17 74073173 74073173 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:74073173C>T ENST00000329003.3 + 2 915 c.825C>T c.(823-825)atC>atT p.I275I NM_003857.2 NP_003848.1 O43603 GALR2_HUMAN galanin receptor 2 275 digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction integral to membrane|plasma membrane galanin receptor activity cervix(1)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 8 CGCTTCGCATCCTCTCGCACC 0.642000 10 13 0 0 1 0 0 RBP3 5949 broad.mit.edu 37 10 48389383 48389383 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:48389383G>A ENST00000224600.4 - 1 1608 c.1495C>T c.(1495-1497)Cct>Tct p.P499S NM_002900.2 NP_002891.1 P10745 RET3_HUMAN retinol binding protein 3, interstitial 499 4 X approximate tandem repeats. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Vitamin A(DB00162) CCGGCCTCAGGGCCCTGGAAG 0.652000 14 29 0 0 1 0 0 ADCY2 108 broad.mit.edu 37 5 7626395 7626395 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:7626395C>T ENST00000338316.4 + 4 775 c.686C>T c.(685-687)tCg>tTg p.S229L NM_020546.2 NP_065433.2 Q08462 ADCY2_HUMAN adenylate cyclase 2 (brain) 229 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 119 TGCATCAAGTCGCGGATCAAG 0.393000 27 56 0 0 1 0 0 CRB2 286204 broad.mit.edu 37 9 126137568 126137568 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr9:126137568G>A ENST00000373631.3 + 12 3580 c.3579G>A c.(3577-3579)ggG>ggA p.G1193G CRB2_ENST00000373629.2_Silent_p.G861G NM_173689.5 NP_775960.4 Q5IJ48 CRUM2_HUMAN crumbs homolog 2 (Drosophila) 1193 EGF-like 15. extracellular region|integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3) 23 CAGCTGGAGGGGTGTCTGAAT 0.637000 23 11 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7721167 7721167 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:7721167G>A ENST00000572933.1 + 67 11689 c.10229G>A c.(10228-10230)gGa>gAa p.G3410E DNAH2_ENST00000389173.2_Missense_Mutation_p.G3410E Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 3410 AAA 5 (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) AACATGGAAGGAGGCCAGGTG 0.622000 19 44 0 0 1 0 0 ZNF160 90338 broad.mit.edu 37 19 53572905 53572905 + Silent SNP A A G TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:53572905A>G ENST00000601421.1 - 3 1650 c.774T>C c.(772-774)ttT>ttC p.F258F ZNF160_ENST00000418871.1_Silent_p.F294F|ZNF160_ENST00000429604.1_Silent_p.F294F|ZNF160_ENST00000599056.1_Silent_p.F294F Q9HCG1 ZN160_HUMAN zinc finger protein 160 294 hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 35 GBM - Glioblastoma multiforme(134;0.02) AACGAACAGTAAAGGTTTTGC 0.418000 43 69 0 0 1 0 0 NCKAP1L 3071 broad.mit.edu 37 12 54917272 54917272 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:54917272G>A ENST00000293373.6 + 19 2052 c.1973G>A c.(1972-1974)aGg>aAg p.R658K NCKAP1L_ENST00000545638.2_Missense_Mutation_p.R608K NM_005337.4 NP_005328.2 P55160 NCKPL_HUMAN NCK-associated protein 1-like 658 actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis cytosol|integral to plasma membrane|membrane fraction|SCAR complex protein complex binding|protein kinase activator activity|Rac GTPase activator activity NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2) 80 GAGCCCGAGAGGGACAAGCCA 0.542000 44 57 0 0 1 0 0 CLVS1 157807 broad.mit.edu 37 8 62212800 62212800 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:62212800G>A ENST00000519846.1 + 3 886 c.414G>A c.(412-414)agG>agA p.R138R CLVS1_ENST00000325897.4_Silent_p.R138R|RP11-787D18.1_ENST00000518064.1_RNA|CLVS1_ENST00000518592.1_Intron Q8IUQ0 CLVS1_HUMAN clavesin 1 138 CRAL-TRIO. lysosome organization clathrin-coated vesicle|early endosome membrane|trans-Golgi network phosphatidylinositol-3,5-bisphosphate binding|transporter activity endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 ATTACGGCAGGAAGATTCTTT 0.448000 17 20 0 0 1 0 0 PTH2R 5746 broad.mit.edu 37 2 209358364 209358364 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:209358364G>A ENST00000272847.2 + 13 1846 c.1633G>A c.(1633-1635)Gaa>Aaa p.E545K AC019185.4_ENST00000424628.1_RNA|PTH2R_ENST00000413482.1_3'UTR NM_005048.2 NP_005039.1 P49190 PTH2R_HUMAN parathyroid hormone 2 receptor 545 integral to plasma membrane parathyroid hormone receptor activity breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 43 Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836) ATGCCAAGGAGAAACTGAGGA 0.498000 31 12 0 0 1 0 0 RP9 6100 broad.mit.edu 37 7 33134978 33134978 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:33134978G>A ENST00000297157.3 - 6 551 c.534C>T c.(532-534)tcC>tcT p.S178S NM_203288.1 NP_976033.1 Q8TA86 RP9_HUMAN retinitis pigmentosa 9 (autosomal dominant) 178 Poly-Ser. RNA splicing nucleus nucleic acid binding|protein binding|zinc ion binding large_intestine(3)|lung(3)|urinary_tract(1) 7 GBM - Glioblastoma multiforme(11;0.0403) TACCTTCAGAGGAACTGGAGC 0.348000 24 41 0 0 1 0 0 ZNF286B 729288 broad.mit.edu 37 17 18565299 18565299 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:18565299C>T ENST00000545289.1 - 5 1770 c.1520G>A c.(1519-1521)aGt>aAt p.S507N NM_001145045.1 NP_001138517.1 P0CG31 Z286B_HUMAN zinc finger protein 286B 507 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|lung(1) 2 GAGAGATGAACTGCACTTAAA 0.358000 27 51 0 0 1 0 0 PID1 55022 broad.mit.edu 37 2 229890387 229890387 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:229890387G>A ENST00000392054.3 - 4 1047 c.708C>T c.(706-708)tcC>tcT p.S236S PID1_ENST00000354069.6_Silent_p.S238S|PID1_ENST00000482518.2_Intron|PID1_ENST00000392055.3_Silent_p.S205S|PID1_ENST00000409462.1_Silent_p.S156S NM_017933.4 NP_060403.3 Q7Z2X4 PCLI1_HUMAN phosphotyrosine interaction domain containing 1 238 PID. cytoplasm breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 26 Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171) Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189) AAACCTCTTCGGAGGAGCTGT 0.532000 38 23 0 0 1 0 0 NFKB2 4791 broad.mit.edu 37 10 104158035 104158035 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:104158035C>T ENST00000369966.3 + 10 1083 c.833C>T c.(832-834)cCc>cTc p.P278L NFKB2_ENST00000428099.1_Missense_Mutation_p.P278L|NFKB2_ENST00000189444.6_Missense_Mutation_p.P278L|NFKB2_ENST00000336486.5_3'UTR NM_001077494.2 NP_001070962.1 Q00653 NFKB2_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100) 278 RHD. innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2) 23 Colorectal(252;0.00957) Epithelial(162;3.4e-08)|all cancers(201;6.41e-07) GACTTCTCTCCCACAGATGTG 0.562000 T IGH@ B-NHL 39 73 0 0 1 0 0 OVOL1 5017 broad.mit.edu 37 11 65562633 65562633 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:65562633C>T ENST00000335987.3 + 4 977 c.625C>T c.(625-627)Cgg>Tgg p.R209W OVOL1_ENST00000532448.1_Missense_Mutation_p.R147W NM_004561.3 NP_004552.2 O14753 OVOL1_HUMAN ovo-like zinc finger 1 209 transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1) 6 READ - Rectum adenocarcinoma(159;0.17) CAAGGAGCGGCGGGCCAAGCT 0.617000 15 19 0 0 1 0 0 ACCSL 390110 broad.mit.edu 37 11 44074302 44074302 + Missense_Mutation SNP A A G TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:44074302A>G ENST00000378832.1 + 6 919 c.863A>G c.(862-864)gAg>gGg p.E288G NM_001031854.2 NP_001027025.2 Q4AC99 1A1L2_HUMAN 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like 288 1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2) 34 GTCCACCTGGAGAGTGAGGTC 0.547000 68 99 0 0 1 0 0 SCN1A 6323 broad.mit.edu 37 2 166872124 166872124 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:166872124G>A ENST00000423058.2 - 17 3560 c.3543C>T c.(3541-3543)ttC>ttT p.F1181F SCN1A_ENST00000303395.4_Silent_p.F1181F|AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Silent_p.F1170F|SCN1A_ENST00000409050.1_Silent_p.F1153F NM_001165963.1|NM_001202435.1 NP_001159435.1|NP_001189364.1 P35498 SCN1A_HUMAN sodium channel, voltage-gated, type I, alpha subunit 1181 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) TACCTTCAGTGAAACAAGCTT 0.413000 28 73 0 0 1 0 0 TRIM39 56658 broad.mit.edu 37 6 30309967 30309967 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr6:30309967C>T ENST00000376659.5 + 8 1996 c.1398C>T c.(1396-1398)taC>taT p.Y466Y TRIM39_ENST00000396551.3_Silent_p.Y466Y|TRIM39_ENST00000396548.1_Silent_p.Y466Y|TRIM39-RPP21_ENST00000513556.1_Intron|TRIM39_ENST00000540416.1_Silent_p.Y466Y|TRIM39_ENST00000376656.4_Silent_p.Y496Y|TRIM39_ENST00000396547.1_Silent_p.Y496Y NM_172016.2 NP_742013.1 tripartite motif containing 39 ovary(3) 3 CCCTCTTCTACCCAGGCATCC 0.522000 31 13 0 0 1 0 0 OR2T8 343172 broad.mit.edu 37 1 248084497 248084497 + Missense_Mutation SNP C C G TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:248084497C>G ENST00000319968.4 + 1 178 c.178C>G c.(178-180)Ctc>Gtc p.L60V NM_001005522.1 NP_001005522.1 A6NH00 OR2T8_HUMAN olfactory receptor, family 2, subfamily T, member 8 60 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 34 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0211) OV - Ovarian serous cystadenocarcinoma(106;0.0319) CATGTACTTCCTCCTGAGCCA 0.542000 6 99 0 0 1 0 0 EDC4 23644 broad.mit.edu 37 16 67911499 67911499 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr16:67911499G>A ENST00000358933.5 + 6 968 c.729G>A c.(727-729)gaG>gaA p.E243E EDC4_ENST00000574770.1_3'UTR NM_014329.4 NP_055144.3 Q6P2E9 EDC4_HUMAN enhancer of mRNA decapping 4 243 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol|nucleus protein binding breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 41 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121) TCATCCCTGAGGAGAGCGAAG 0.597000 23 49 0 0 1 0 0 PADI3 51702 broad.mit.edu 37 1 17597416 17597416 + Nonsense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:17597416C>T ENST00000375460.3 + 8 914 c.874C>T c.(874-876)Cga>Tga p.R292* NM_016233.2 NP_057317.2 Q9ULW8 PADI3_HUMAN peptidyl arginine deiminase, type III 292 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) TGTGGTGTTCCGAGTGGCACC 0.622000 13 33 0 0 1 0 0 GK2 2712 broad.mit.edu 37 4 80328892 80328892 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr4:80328892G>A ENST00000358842.3 - 1 480 c.463C>T c.(463-465)Cgt>Tgt p.R155C NM_033214.2 NP_149991.2 Q14410 GLPK2_HUMAN glycerol kinase 2 155 glycerol-3-phosphate metabolic process mitochondrial outer membrane ATP binding|glycerol kinase activity autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 39 AGCATCCAACGAAGTTTTACT 0.408000 25 87 0 0 1 0 0 ANXA3 306 broad.mit.edu 37 4 79522687 79522687 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr4:79522687G>A ENST00000264908.6 + 11 1133 c.754G>A c.(754-756)Gcc>Acc p.A252T ANXA3_ENST00000512884.1_Missense_Mutation_p.A213T|ANXA3_ENST00000503570.2_Missense_Mutation_p.A213T NM_005139.2 NP_005130.1 P12429 ANXA3_HUMAN annexin A3 252 defense response to bacterium|neutrophil degranulation|phagocytosis|positive regulation of angiogenesis|positive regulation of endothelial cell migration|positive regulation of sequence-specific DNA binding transcription factor activity phagocytic vesicle membrane|plasma membrane|specific granule calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 15 GAACACGCCGGCCTTTTTAGC 0.383000 27 55 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228548409 228548409 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:228548409C>T ENST00000284548.11 + 81 19890 c.19816C>T c.(19816-19818)Ctt>Ttt p.L6606F OBSCN_ENST00000366709.4_Missense_Mutation_p.L3725F|OBSCN_ENST00000570156.2_Intron|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366707.4_Intron Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 0 Protein kinase 1. 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) GACGGTCACCCTTCACATCTG 0.637000 14 5 0 0 1 0 0 ILVBL 10994 broad.mit.edu 37 19 15230043 15230043 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:15230043G>A ENST00000263383.3 - 9 1124 c.985C>T c.(985-987)Cac>Tac p.H329Y ILVBL_ENST00000534378.1_Missense_Mutation_p.H222Y NM_006844.3 NP_006835.2 A1L0T0 ILVBL_HUMAN ilvB (bacterial acetolactate synthase)-like 329 integral to membrane magnesium ion binding|thiamine pyrophosphate binding|transferase activity NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1) 26 TGGAGGGGGTGGTTGCGGCCT 0.642000 35 67 0 0 1 0 0 F8 2157 broad.mit.edu 37 X 154157819 154157819 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:154157819G>A ENST00000360256.4 - 14 4446 c.4246C>T c.(4246-4248)Cca>Tca p.P1416S NM_000132.3 NP_000123.1 P00451 FA8_HUMAN coagulation factor VIII, procoagulant component 1416 B. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2) 120 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) CTAATAGATGGAAATGATGAT 0.423000 95 94 0 0 1 0 0 ERC1 23085 broad.mit.edu 37 12 1250819 1250819 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:1250819G>A ENST00000397203.2 + 8 2009 c.1603G>A c.(1603-1605)Gaa>Aaa p.E535K ERC1_ENST00000546231.2_Missense_Mutation_p.E535K|ERC1_ENST00000355446.5_Missense_Mutation_p.E535K|ERC1_ENST00000360905.4_Missense_Mutation_p.E535K|ERC1_ENST00000589028.1_Missense_Mutation_p.E535K|ERC1_ENST00000543086.3_Missense_Mutation_p.E507K|ERC1_ENST00000536573.2_3'UTR Q8IUD2 RB6I2_HUMAN ELKS/RAB6-interacting/CAST family member 1 535 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) GGAAGAGAAGGAAACCATGTT 0.373000 22 37 0 0 1 0 0 IPO13 9670 broad.mit.edu 37 1 44422566 44422566 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:44422566C>T ENST00000372343.3 + 5 1851 c.1189C>T c.(1189-1191)Ctt>Ttt p.L397F IPO13_ENST00000492152.1_3'UTR NM_014652.3 NP_055467.3 O94829 IPO13_HUMAN importin 13 397 protein import into nucleus cytoplasm|nucleus protein binding|protein transporter activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0821) GGTGGATGTGCTTCTGCACAA 0.517000 17 45 0 0 1 0 0 ZNF543 125919 broad.mit.edu 37 19 57839469 57839469 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:57839469C>T ENST00000321545.4 + 4 984 c.639C>T c.(637-639)ctC>ctT p.L213L NM_213598.3 NP_998763.2 Q08ER8 ZN543_HUMAN zinc finger protein 543 213 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 28 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) AGAATGCCCTCCTTGTTCAGC 0.428000 45 58 0 0 1 0 0 KRT79 338785 broad.mit.edu 37 12 53223873 53223873 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:53223873C>T ENST00000330553.5 - 4 823 c.789G>A c.(787-789)atG>atA p.M263I NM_175834.2 NP_787028.1 Q5XKE5 K2C79_HUMAN keratin 79 263 Coil 1B.|Rod. keratin filament structural molecule activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 CATGCAGATCCATCCGGCCCA 0.567000 24 40 0 0 1 0 0 WDPCP 51057 broad.mit.edu 37 2 63661028 63661028 + Nonsense_Mutation SNP C C A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:63661028C>A ENST00000409120.1 - 3 3650 c.100G>T c.(100-102)Gag>Tag p.E34* WDPCP_ENST00000398544.3_Nonsense_Mutation_p.E67*|WDPCP_ENST00000409835.1_5'UTR|WDPCP_ENST00000409199.1_Nonsense_Mutation_p.E34*|WDPCP_ENST00000409562.3_Nonsense_Mutation_p.E226*|WDPCP_ENST00000272321.7_Nonsense_Mutation_p.E226* O95876 FRITZ_HUMAN WD repeat containing planar cell polarity effector 226 cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization cilium axoneme|cytoplasm|cytoskeleton|plasma membrane central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1) 35 AGATGTCGCTCTGTTGTCTTG 0.388000 15 37 2.23348e-06 2.24693e-06 1 1 0 WDR16 146845 broad.mit.edu 37 17 9536340 9536340 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:9536340G>A ENST00000352665.5 + 10 1379 c.1310G>A c.(1309-1311)gGg>gAg p.G437E WDR16_ENST00000299764.5_Missense_Mutation_p.G447E|WDR16_ENST00000576714.1_3'UTR|WDR16_ENST00000396219.3_Missense_Mutation_p.G369E NM_145054.4 NP_659491.4 Q8N1V2 WDR16_HUMAN WD repeat domain 16 437 cytoplasm|intracellular membrane-bounded organelle protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 31 AGTGGCGGTGGGGAAGGGGAG 0.463000 29 28 0 0 1 0 0 DENND5B 160518 broad.mit.edu 37 12 31600532 31600532 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:31600532C>T ENST00000389082.5 - 6 2065 c.1801G>A c.(1801-1803)Gta>Ata p.V601I DENND5B_ENST00000354285.4_Missense_Mutation_p.V623I|DENND5B_ENST00000536562.1_Missense_Mutation_p.V636I|DENND5B_ENST00000306833.6_Missense_Mutation_p.V636I NM_144973.3 NP_659410.3 Q6ZUT9 DEN5B_HUMAN DENN/MADD domain containing 5B 601 integral to membrane NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 GGTGCCCTTACATTATACAGC 0.368000 11 21 0 0 1 0 0 LCMT2 9836 broad.mit.edu 37 15 43621176 43621176 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr15:43621176C>T ENST00000305641.5 - 1 1627 c.1512G>A c.(1510-1512)gtG>gtA p.V504V LCMT2_ENST00000544735.1_Silent_p.V83V|LCMT2_ENST00000567039.1_3'UTR NM_014793.4 NP_055608.2 O60294 LCMT2_HUMAN leucine carboxyl methyltransferase 2 504 tRNA processing methyltransferase activity|protein binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1) 20 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;8.1e-07) L-Leucine(DB00149) GTACAGGTTCCACCACGCTTC 0.493000 51 76 0 0 1 0 0 MVP 9961 broad.mit.edu 37 16 29845167 29845167 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr16:29845167C>T ENST00000357402.5 + 4 573 c.435C>T c.(433-435)ttC>ttT p.F145F MVP_ENST00000395353.1_Silent_p.F145F|MVP_ENST00000452209.2_Intron NM_005115.4|NM_017458.3 NP_005106.2|NP_059447.2 Q14764 MVP_HUMAN major vault protein 145 mRNA transport|protein transport|response to drug|transmembrane transport cytoplasm|nuclear pore|ribonucleoprotein complex protein binding central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1) 27 AGTGGCTTTTCGAGGGACCTG 0.542000 45 52 0 0 1 0 0 LRRC4C 57689 broad.mit.edu 37 11 40136049 40136049 + Nonsense_Mutation SNP A A T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:40136049A>T ENST00000278198.2 - 2 3757 c.1794T>A c.(1792-1794)taT>taA p.Y598* LRRC4C_ENST00000527150.1_Nonsense_Mutation_p.Y598*|LRRC4C_ENST00000528697.1_Nonsense_Mutation_p.Y598*|LRRC4C_ENST00000530763.1_Nonsense_Mutation_p.Y598* Q9HCJ2 LRC4C_HUMAN leucine rich repeat containing 4C 598 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) TGTATGAGTTATAGTGATTTA 0.408000 51 75 0 0 1 0 0 PCDH11X 27328 broad.mit.edu 37 X 91131890 91131890 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:91131890G>A ENST00000373094.1 + 2 1496 c.651G>A c.(649-651)atG>atA p.M217I PCDH11X_ENST00000395337.2_Missense_Mutation_p.M217I|PCDH11X_ENST00000298274.8_Missense_Mutation_p.M217I|PCDH11X_ENST00000373088.1_Missense_Mutation_p.M217I|PCDH11X_ENST00000373097.1_Missense_Mutation_p.M217I|PCDH11X_ENST00000361724.1_Missense_Mutation_p.M217I|PCDH11X_ENST00000406881.1_Missense_Mutation_p.M217I|PCDH11X_ENST00000361655.2_Missense_Mutation_p.M217I|PCDH11X_ENST00000504220.1_Missense_Mutation_p.M217I NM_032968.3 NP_116750.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 217 Cadherin 2. homophilic cell adhesion integral to plasma membrane calcium ion binding NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 CCTACGTGATGAAAGTAAAGG 0.413000 70 143 0 0 1 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144917882 144917882 + Missense_Mutation SNP T T G TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:144917882T>G ENST00000529945.1 - 7 2332 c.1893A>C c.(1891-1893)gaA>gaC p.E631D PDE4DIP_ENST00000369356.4_Missense_Mutation_p.E468D|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.E468D|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.E534D|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.E605D|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.E605D|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.E468D|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.E468D|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.E631D|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.E255D Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 468 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) TTTCATTTGCTTCAAGGGTTT 0.368000 T PDGFRB MPD 34 303 0 0 1 0 0 METTL12 751071 broad.mit.edu 37 11 62434119 62434119 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:62434119G>A ENST00000532971.1 + 3 576 c.319G>A c.(319-321)Gac>Aac p.D107N C11orf48_ENST00000431002.2_Intron|C11orf48_ENST00000354588.3_Intron|METTL12_ENST00000398922.2_3'UTR|C11orf48_ENST00000532208.1_Intron NM_001043229.1 NP_001036694.1 A8MUP2 MTL12_HUMAN methyltransferase like 12 107 mitochondrion methyltransferase activity endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1) 6 GCTGGGGGTGGACTTTTCTCC 0.592000 21 45 0 0 1 0 0 NLRP3 114548 broad.mit.edu 37 1 247588039 247588039 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:247588039C>T ENST00000366497.2 + 4 2074 c.1294C>T c.(1294-1296)Ctt>Ttt p.L432F NLRP3_ENST00000391827.2_Missense_Mutation_p.L432F|NLRP3_ENST00000366496.2_Missense_Mutation_p.L432F|NLRP3_ENST00000391828.3_Missense_Mutation_p.L432F|NLRP3_ENST00000336119.3_Missense_Mutation_p.L432F|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000348069.2_Missense_Mutation_p.L432F NM_001127461.2 NP_001120933.1 Q96P20 NALP3_HUMAN NLR family, pyrin domain containing 3 432 NACHT. detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction cytoplasm ATP binding|peptidoglycan binding|protein binding p.L432I(1) NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 142 all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.0172) OV - Ovarian serous cystadenocarcinoma(106;0.0141) TGGCAAGAGCCTTGCCCAGAC 0.597000 20 24 0 0 1 0 0 MYO5B 4645 broad.mit.edu 37 18 47527718 47527718 + Silent SNP G G T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr18:47527718G>T ENST00000285039.7 - 5 818 c.519C>A c.(517-519)gcC>gcA p.A173A NM_001080467.2 NP_001073936.1 Q9ULV0 MYO5B_HUMAN myosin VB 173 Myosin head-like. 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) TGGCATACTTGGCTGATACCG 0.517000 39 67 4.32679e-17 4.40457e-17 1 1 0 FGFR3 2261 broad.mit.edu 37 4 1803570 1803570 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr4:1803570C>T ENST00000340107.4 + 7 1004 c.748C>T c.(748-750)Ccg>Tcg p.P250S FGFR3_ENST00000481110.2_Missense_Mutation_p.P250S|FGFR3_ENST00000474521.1_3'UTR|FGFR3_ENST00000260795.2_Missense_Mutation_p.P250S|FGFR3_ENST00000440486.2_Missense_Mutation_p.P250S|FGFR3_ENST00000412135.2_Missense_Mutation_p.P250S|FGFR3_ENST00000352904.1_Missense_Mutation_p.P250S NM_001163213.1 NP_001156685.1 P22607 FGFR3_HUMAN fibroblast growth factor receptor 3 250 P -> R (in MNKS; also some individuals with autosomal dominant congenital sensorineural deafness without craniosynostosis; dbSNP:rs4647924). bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607) 3091 Breast(71;0.212)|all_epithelial(65;0.241) all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234) Palifermin(DB00039) AGAGCGCTCCCCGCACCGGCC 0.741000 1 """Mis, T""" """IGH@, ETV6""" """bladder, MM, T-cell lymphoma""" """Hypochondroplasia, Thanatophoric dysplasia""" Saethre-Chotzen syndrome;Muenke syndrome 8 14 0 0 1 0 0 ATCAY 85300 broad.mit.edu 37 19 3908331 3908331 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:3908331C>T ENST00000450849.2 + 6 1077 c.610C>T c.(610-612)Ctc>Ttc p.L204F ATCAY_ENST00000301260.6_Missense_Mutation_p.L204F|ATCAY_ENST00000398448.3_Missense_Mutation_p.L210F|ATCAY_ENST00000600960.1_Missense_Mutation_p.L204F NM_033064.4 NP_149053.1 Q86WG3 ATCAY_HUMAN ataxia, cerebellar, Cayman type 204 CRAL-TRIO. transport protein binding breast(1)|endometrium(2)|kidney(2)|lung(2) 7 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183) AGACAGCAGCCTCCCCGACTA 0.642000 6 2 0 0 1 0 0 DCC 1630 broad.mit.edu 37 18 50589706 50589706 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr18:50589706C>T ENST00000442544.2 + 6 1633 c.1017C>T c.(1015-1017)aaC>aaT p.N339N DCC_ENST00000581580.1_5'UTR|DCC_ENST00000412726.1_Silent_p.N187N|DCC_ENST00000580146.1_3'UTR NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 339 Ig-like C2-type 4. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) ATCCTTCCAACCTGTATGCCT 0.438000 98 124 0 0 1 0 0 C11orf30 56946 broad.mit.edu 37 11 76174919 76174919 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:76174919C>T ENST00000529032.1 + 6 626 c.626C>T c.(625-627)tCt>tTt p.S209F C11orf30_ENST00000525919.1_Missense_Mutation_p.S210F|C11orf30_ENST00000524767.1_Missense_Mutation_p.S224F|C11orf30_ENST00000524490.1_Missense_Mutation_p.S210F|C11orf30_ENST00000334736.3_Missense_Mutation_p.S209F|C11orf30_ENST00000533248.1_Missense_Mutation_p.S223F|C11orf30_ENST00000343878.3_Missense_Mutation_p.S209F|C11orf30_ENST00000525038.1_Missense_Mutation_p.S224F Q7Z589 EMSY_HUMAN chromosome 11 open reading frame 30 209 Interaction with BRCA2.|Poly-Ser. chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2) 60 CGAACAAACTCTTCCAGCTCC 0.443000 64 99 0 0 1 0 0 GPR64 10149 broad.mit.edu 37 X 19032136 19032136 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:19032136G>A ENST00000354791.3 - 15 960 c.719C>T c.(718-720)tCt>tTt p.S240F GPR64_ENST00000340581.3_Missense_Mutation_p.S226F|GPR64_ENST00000379873.2_Missense_Mutation_p.S256F|GPR64_ENST00000360279.4_Missense_Mutation_p.S234F|GPR64_ENST00000379878.3_Missense_Mutation_p.S240F|GPR64_ENST00000357544.3_Missense_Mutation_p.S226F|GPR64_ENST00000379869.3_Missense_Mutation_p.S256F|GPR64_ENST00000357991.3_Missense_Mutation_p.S253F|GPR64_ENST00000356606.4_Missense_Mutation_p.S242F|GPR64_ENST00000379876.1_Missense_Mutation_p.S232F Q8IZP9 GPR64_HUMAN G protein-coupled receptor 64 256 neuropeptide signaling pathway|spermatogenesis cytoplasm|integral to plasma membrane G-protein coupled receptor activity breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1) 42 Hepatocellular(33;0.183) TTGGCTGGAAGAAAATGGTGG 0.522000 25 36 0 0 1 0 0 L1CAM 3897 broad.mit.edu 37 X 153133365 153133365 + Splice_Site SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:153133365C>T ENST00000370060.1 - 16 2018 c.1828_splice c.e16-1 p.G610_splice L1CAM_ENST00000370055.1_Splice_Site_p.G605_splice|L1CAM_ENST00000543994.1_Splice_Site_p.G612_splice|L1CAM_ENST00000361981.3_Splice_Site_p.G605_splice|L1CAM_ENST00000538883.1_Splice_Site_p.G612_splice|L1CAM_ENST00000370057.3_Splice_Site_p.G610_splice|L1CAM_ENST00000361699.4_Splice_Site_p.G610_splice NM_001278116.1 NP_001265045.1 P32004 L1CAM_HUMAN L1 cell adhesion molecule 610 axon guidance|blood coagulation|cell death|leukocyte migration integral to membrane NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CCCAGGGCTCCCTGAGGGTGG 0.662000 73 74 0 0 1 0 0 KRCC1 51315 broad.mit.edu 37 2 88327774 88327774 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:88327774G>A ENST00000347055.3 - 4 702 c.309C>T c.(307-309)taC>taT p.Y103Y NM_016618.1 NP_057702.1 Q9NPI7 KRCC1_HUMAN lysine-rich coiled-coil 1 103 cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1) 7 TGAACTGACAGTAGCTCAGAG 0.433000 37 56 0 0 1 0 0 TTBK2 146057 broad.mit.edu 37 15 43038281 43038281 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr15:43038281C>T ENST00000267890.6 - 15 3555 c.3447G>A c.(3445-3447)agG>agA p.R1149R NM_173500.3 NP_775771.3 Q6IQ55 TTBK2_HUMAN tau tubulin kinase 2 1149 cell death ATP binding|protein serine/threonine kinase activity NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2) 43 all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216) GBM - Glioblastoma multiforme(94;3.23e-07) CACTGGGACTCCTGCGAGGGA 0.562000 38 87 0 0 1 0 0 ATG14 22863 broad.mit.edu 37 14 55848745 55848745 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr14:55848745G>A ENST00000247178.5 - 6 847 c.812C>T c.(811-813)cCt>cTt p.P271L NM_014924.4 NP_055739.2 Q6ZNE5 BAKOR_HUMAN autophagy related 14 271 autophagic vacuole assembly|positive regulation of autophagy autophagic vacuole|endoplasmic reticulum|pre-autophagosomal structure membrane protein binding central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(2) 13 CCCATTGTTAGGGAGGCTAAT 0.507000 38 69 0 0 1 0 0 DENND4C 55667 broad.mit.edu 37 9 19358055 19358055 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr9:19358055G>A ENST00000307015.9 + 24 4373 c.2621G>A c.(2620-2622)cGa>cAa p.R874Q DENND4C_ENST00000380432.2_Missense_Mutation_p.R1401Q|DENND4C_ENST00000540671.1_Missense_Mutation_p.R731Q|DENND4C_ENST00000602925.1_Missense_Mutation_p.R1637Q|DENND4C_ENST00000434457.2_Missense_Mutation_p.R1686Q Q5VZ89 DEN4C_HUMAN DENN/MADD domain containing 4C 1401 integral to membrane p.R1401L(1) breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 TCTTTGACTCGAAGTCACAGT 0.398000 32 16 0 0 1 0 0 GUCY2D 3000 broad.mit.edu 37 17 7907314 7907314 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:7907314C>T ENST00000254854.4 + 3 1016 c.866C>T c.(865-867)cCg>cTg p.P289L NM_000180.3 NP_000171.1 Q02846 GUC2D_HUMAN guanylate cyclase 2D, membrane (retina-specific) 289 intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity skin(1) 1 Prostate(122;0.157) TCCCCAGGCCCGGAGGCCTTG 0.682000 88 30 0 0 1 0 0 GRIA4 2893 broad.mit.edu 37 11 105804674 105804674 + Missense_Mutation SNP C C G TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:105804674C>G ENST00000393127.2 + 14 2719 c.2273C>G c.(2272-2274)aCg>aGg p.T758R GRIA4_ENST00000282499.5_Missense_Mutation_p.T758R|GRIA4_ENST00000530497.1_Missense_Mutation_p.T758R|GRIA4_ENST00000533094.1_3'UTR|GRIA4_ENST00000525187.1_Missense_Mutation_p.T758R NM_001077243.2 NP_001070711.2 P48058 GRIA4_HUMAN glutamate receptor, ionotropic, AMPA 4 758 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) GGAGTAGCAACGCCCAAGGGT 0.428000 20 28 0 0 1 0 0 CLASP1 23332 broad.mit.edu 37 2 122125366 122125366 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:122125366G>A ENST00000263710.4 - 35 4073 c.3684C>T c.(3682-3684)ggC>ggT p.G1228G CLASP1_ENST00000397587.3_Silent_p.G1168G|CLASP1_ENST00000541377.1_Silent_p.G1167G|CLASP1_ENST00000545861.1_Silent_p.G935G|CLASP1_ENST00000409078.3_Silent_p.G1161G|CLASP1_ENST00000541859.1_Silent_p.G945G|CLASP1_ENST00000455322.2_Silent_p.G1184G NM_015282.2 NP_056097.1 Q7Z460 CLAP1_HUMAN cytoplasmic linker associated protein 1 1228 axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule kinetochore binding|microtubule plus-end binding NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1) 47 Renal(3;0.0496) TACCCCCCCGGCCCTCAGTGG 0.632000 17 40 0 0 1 0 0 MS4A5 64232 broad.mit.edu 37 11 60197151 60197151 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:60197151G>A ENST00000300190.2 + 1 90 c.4G>A c.(4-6)Gat>Aat p.D2N MS4A5_ENST00000534071.1_3'UTR NM_023945.2 NP_076434.2 Q9H3V2 MS4A5_HUMAN membrane-spanning 4-domains, subfamily A, member 5 2 integral to membrane receptor activity large_intestine(7)|lung(7)|ovary(1)|skin(1) 16 CACCATCATGGATTCAAGCAC 0.453000 53 77 0 0 1 0 0 OR6C70 390327 broad.mit.edu 37 12 55863154 55863154 + Missense_Mutation SNP A A T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:55863154A>T ENST00000327335.4 - 1 768 c.769T>A c.(769-771)Tac>Aac p.Y257N RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA NM_001005499.1 NP_001005499.1 A6NIJ9 O6C70_HUMAN olfactory receptor, family 6, subfamily C, member 70 257 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 18 GGCTTTATGTAGATAAACATA 0.388000 50 53 0 0 1 0 0 SLC29A2 3177 broad.mit.edu 37 11 66133980 66133980 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:66133980G>A ENST00000357440.2 - 8 1017 c.789C>T c.(787-789)gaC>gaT p.D263D SLC29A2_ENST00000546034.1_Silent_p.D263D|SLC29A2_ENST00000311161.7_Intron|SLC29A2_ENST00000544554.1_Silent_p.D263D NM_001532.2 NP_001523.2 Q14542 S29A2_HUMAN solute carrier family 29 (equilibrative nucleoside transporter), member 2 263 cell proliferation|nucleobase, nucleoside and nucleotide metabolic process basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus nucleoside transmembrane transporter activity breast(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 10 CCTTCTCCAGGTCAAGATCCA 0.567000 17 31 0 0 1 0 0 SMG1 23049 broad.mit.edu 37 16 18841660 18841660 + Nonsense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr16:18841660G>A ENST00000446231.2 - 52 9236 c.8824C>T c.(8824-8826)Caa>Taa p.Q2942* SMG1_ENST00000389467.3_Nonsense_Mutation_p.Q2942* Q96Q15 SMG1_HUMAN SMG1 phosphatidylinositol 3-kinase-related kinase 2942 DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation cytoplasm|nucleus ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1) 92 TTTCTCGGTTGGATTAATTCA 0.408000 15 22 0 0 1 0 0 ABCC4 10257 broad.mit.edu 37 13 95813448 95813448 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr13:95813448G>A ENST00000376887.4 - 19 2564 c.2450C>T c.(2449-2451)cCa>cTa p.P817L ABCC4_ENST00000536256.1_Missense_Mutation_p.P742L|ABCC4_ENST00000412704.1_Missense_Mutation_p.P770L|ABCC4_ENST00000431522.1_Missense_Mutation_p.P817L NM_005845.3 NP_005836.2 O15439 MRP4_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 4 817 ABC transmembrane type-1 2. platelet activation|platelet degranulation integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane 15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1) 43 all_neural(89;0.0878)|Medulloblastoma(90;0.163) Cefazolin(DB01327) CTTACCTATTGGATTTCTATC 0.348000 9 19 0 0 1 0 0 IDUA 3425 broad.mit.edu 37 4 996897 996897 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr4:996897G>A ENST00000453894.1 + 7 1630 c.1542G>A c.(1540-1542)cgG>cgA p.R514R IDUA_ENST00000247933.4_Silent_p.R492R|IDUA_ENST00000514224.1_Silent_p.R360R P35475 IDUA_HUMAN iduronidase, alpha-L- 492 disaccharide metabolic process lysosome cation binding|L-iduronidase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1) 12 OV - Ovarian serous cystadenocarcinoma(23;0.0158) Laronidase(DB00090) GCCTGGGCCGGCCCGTCTTCC 0.776000 3 6 0 0 1 0 0 DACH1 1602 broad.mit.edu 37 13 72256016 72256016 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr13:72256016C>T ENST00000305425.4 - 2 1303 c.881G>A c.(880-882)aGg>aAg p.R294K DACH1_ENST00000359684.2_Missense_Mutation_p.R294K|DACH1_ENST00000354591.4_Missense_Mutation_p.R294K|DACH1_ENST00000313174.7_Missense_Mutation_p.R294K NM_080759.4 NP_542937.2 Q9UI36 DACH1_HUMAN dachshund homolog 1 (Drosophila) 292 Interaction with SIX6 and HDAC3 (By similarity). multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus DNA binding|nucleotide binding|protein binding NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198) GBM - Glioblastoma multiforme(99;0.00032) ACTTTGAGTCCTCTTAGGAGG 0.423000 28 28 0 0 1 0 0 EIF6 3692 broad.mit.edu 37 20 33867794 33867794 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr20:33867794G>A ENST00000374450.3 - 5 761 c.497C>T c.(496-498)tCa>tTa p.S166L EIF6_ENST00000374436.3_Missense_Mutation_p.S166L|RP4-614O4.11_ENST00000444717.1_RNA|EIF6_ENST00000374443.3_Missense_Mutation_p.S147L NM_002212.3 NP_002203.1 P56537 IF6_HUMAN eukaryotic translation initiation factor 6 166 mature ribosome assembly cytoplasm|nucleolus protein binding|ribosome binding|translation initiation factor activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1) 9 BRCA - Breast invasive adenocarcinoma(18;0.00252) GTCTTCAATTGAAGTCTTGGG 0.537000 88 112 0 0 1 0 0 CEP89 84902 broad.mit.edu 37 19 33444520 33444520 + Splice_Site SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:33444520C>T ENST00000305768.4 - 4 581 c.e4+1 CEP89_ENST00000590597.1_Splice_Site NM_032816.3 NP_116205.3 Q96ST8 CEP89_HUMAN centrosomal protein 89kDa centrosome|spindle pole breast(2)|cervix(1)|endometrium(4)|large_intestine(4)|lung(15)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 35 ATAGAAAACACCTGATTTCTG 0.463000 23 490 0 0 1 0 0 BZRAP1 9256 broad.mit.edu 37 17 56389304 56389304 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:56389304C>T ENST00000355701.3 - 17 3748 c.2878G>A c.(2878-2880)Gag>Aag p.E960K BZRAP1_ENST00000268893.6_Missense_Mutation_p.E900K|BZRAP1_ENST00000343736.4_Missense_Mutation_p.E960K NM_001261835.1|NM_004758.3 NP_001248764.1|NP_004749.2 O95153 RIMB1_HUMAN benzodiazapine receptor (peripheral) associated protein 1 960 mitochondrion benzodiazepine receptor binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) TCCAGCCTCTCCCAGCCTGGT 0.652000 11 15 0 0 1 0 0 A1BG 1 broad.mit.edu 37 19 58862847 58862847 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:58862847C>T ENST00000263100.3 - 5 881 c.820G>A c.(820-822)Gga>Aga p.G274R A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000593960.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000594950.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000599728.1_RNA NM_130786.3 NP_570602.2 P04217 A1BG_HUMAN alpha-1-B glycoprotein 274 Ig-like V-type 3. extracellular region NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2) 15 all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269) TAGTGACCTCCATCCCCCAGG 0.642000 28 46 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72821615 72821615 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr16:72821615G>A ENST00000268489.5 - 10 11232 c.10560C>T c.(10558-10560)ggC>ggT p.G3520G AC004943.1_ENST00000584072.1_RNA|ZFHX3_ENST00000397992.5_Silent_p.G2606G NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 3520 Poly-Gly. 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) cgccgccgccgccaccgccgc 0.706000 3 26 0 0 1 0 0 ZNF480 147657 broad.mit.edu 37 19 52825847 52825847 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:52825847C>T ENST00000595962.1 + 5 1410 c.1344C>T c.(1342-1344)atC>atT p.I448I ZNF480_ENST00000335090.6_Silent_p.I371I|CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000334564.7_Silent_p.I405I|ZNF480_ENST00000490272.1_3'UTR NM_144684.2 NP_653285.2 Q8WV37 ZN480_HUMAN zinc finger protein 480 448 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 12 GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369) ATCTTGTAATCCACACTGGAG 0.408000 34 53 0 0 1 0 0 OR5AS1 219447 broad.mit.edu 37 11 55798563 55798563 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:55798563C>T ENST00000313555.1 + 1 669 c.669C>T c.(667-669)atC>atT p.I223I NM_001001921.1 NP_001001921.1 Q8N127 O5AS1_HUMAN olfactory receptor, family 5, subfamily AS, member 1 223 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1) 48 Esophageal squamous(21;0.00693) GCATCCTCATCACTGTGTTGA 0.458000 54 99 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56351926 56351926 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr6:56351926G>A ENST00000370754.5 - 87 20929 c.20930C>T c.(20929-20931)aCc>aTc p.T6977I DST_ENST00000244364.6_Missense_Mutation_p.T4385I|DST_ENST00000312431.6_3'UTR|DST_ENST00000361203.3_Missense_Mutation_p.T6688I|DST_ENST00000421834.2_Missense_Mutation_p.T4711I|DST_ENST00000446842.2_Missense_Mutation_p.T6473I|DST_ENST00000370769.4_Missense_Mutation_p.T6799I|DST_ENST00000370788.2_Missense_Mutation_p.T4602I Q03001 DYST_HUMAN dystonin 6797 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) TCCACATATGGTATCCCATTT 0.438000 15 14 0 0 1 0 0 HCFC1 3054 broad.mit.edu 37 X 153224146 153224146 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:153224146G>A ENST00000310441.7 - 10 2643 c.1677C>T c.(1675-1677)atC>atT p.I559I HCFC1_ENST00000354233.3_Silent_p.I490I|HCFC1_ENST00000369984.4_Silent_p.I559I NM_005334.2 NP_005325.2 P51610 HCFC1_HUMAN host cell factor C1 (VP16-accessory protein) 559 cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) AGGAAGGGGGGATCTTCTGGG 0.657000 32 57 0 0 1 0 0 UTP18 51096 broad.mit.edu 37 17 49371299 49371299 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:49371299C>T ENST00000225298.7 + 12 1596 c.1539C>T c.(1537-1539)ttC>ttT p.F513F NM_016001.2 NP_057085.2 Q9Y5J1 UTP18_HUMAN UTP18 small subunit (SSU) processome component homolog (yeast) 513 rRNA processing nucleolus breast(2)|endometrium(3)|kidney(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 16 BRCA - Breast invasive adenocarcinoma(22;2.09e-07) TTTCAAACTTCCCAGTCATTA 0.363000 22 32 0 0 1 0 0 COL4A6 1288 broad.mit.edu 37 X 107430382 107430382 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:107430382G>A ENST00000394872.2 - 23 2129 c.1898C>T c.(1897-1899)cCt>cTt p.P633L COL4A6_ENST00000538570.1_Missense_Mutation_p.P632L|COL4A6_ENST00000545689.1_Missense_Mutation_p.P632L|COL4A6_ENST00000334504.7_Missense_Mutation_p.P632L|COL4A6_ENST00000372216.4_Missense_Mutation_p.P633L Q14031 CO4A6_HUMAN collagen, type IV, alpha 6 633 Triple-helical region. cell adhesion|extracellular matrix organization collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 92 TTTATCTCCAGGAAGCCCACG 0.532000 Alport syndrome with Diffuse Leiomyomatosis 192 231 0 0 1 0 0 HMOX1 3162 broad.mit.edu 37 22 35783126 35783126 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr22:35783126G>A ENST00000216117.8 + 3 932 c.593G>A c.(592-594)aGg>aAg p.R198K NM_002133.2 NP_002124.1 P09601 HMOX1_HUMAN heme oxygenase (decycling) 1 198 angiogenesis|anti-apoptosis|cell death|cellular iron ion homeostasis|endothelial cell proliferation|erythrocyte homeostasis|heme catabolic process|heme oxidation|intracellular protein kinase cascade|low-density lipoprotein particle clearance|negative regulation of leukocyte migration|negative regulation of smooth muscle cell proliferation|positive regulation of chemokine biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of smooth muscle cell proliferation|protein homooligomerization|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hydrogen peroxide|response to nicotine|smooth muscle hyperplasia|transmembrane transport|wound healing involved in inflammatory response endoplasmic reticulum membrane|extracellular space|microsome enzyme binding|heme binding|heme oxygenase (decyclizing) activity|protein homodimerization activity|signal transducer activity central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1) 16 NADH(DB00157) GTCAGGCAGAGGGTGATAGAA 0.607000 22 53 0 0 1 0 0 ZNF689 115509 broad.mit.edu 37 16 30621329 30621329 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr16:30621329C>T ENST00000287461.3 - 1 371 c.34G>A c.(34-36)Gga>Aga p.G12R ZNF689_ENST00000566673.1_Intron NM_138447.1 NP_612456.1 Q96CS4 ZN689_HUMAN zinc finger protein 689 12 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1) 14 Colorectal(24;0.198) TTTCCTGGTCCCTGCGCAGGG 0.716000 6 10 0 0 1 0 0 FREM2 341640 broad.mit.edu 37 13 39263623 39263623 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr13:39263623G>A ENST00000280481.7 + 1 2358 c.2142G>A c.(2140-2142)caG>caA p.Q714Q NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 714 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) TGGTGGTACAGGAATCCCAGC 0.567000 15 27 0 0 1 0 0 ACACB 32 broad.mit.edu 37 12 109684212 109684212 + Missense_Mutation SNP A A G TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:109684212A>G ENST00000338432.7 + 39 5649 c.5530A>G c.(5530-5532)Atg>Gtg p.M1844V ACACB_ENST00000543201.1_Missense_Mutation_p.M510V|ACACB_ENST00000377854.5_Missense_Mutation_p.M1774V|ACACB_ENST00000377848.3_Missense_Mutation_p.M1844V O00763 ACACB_HUMAN acetyl-CoA carboxylase beta 1844 Carboxyltransferase. acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 Biotin(DB00121) GATCAAACACATGTTCCACGT 0.567000 25 69 0 0 1 0 0 FMOD 2331 broad.mit.edu 37 1 203317338 203317338 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:203317338C>T ENST00000354955.4 - 2 524 c.61G>A c.(61-63)Gaa>Aaa p.E21K FMOD_ENST00000464898.1_5'UTR NM_002023.4 NP_002014.2 Q06828 FMOD_HUMAN fibromodulin 21 transforming growth factor beta receptor complex assembly extracellular space|proteinaceous extracellular matrix breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 17 BRCA - Breast invasive adenocarcinoma(75;0.171) GGGTCATCTTCATACTGGGCC 0.572000 26 37 0 0 1 0 0 ZNF233 353355 broad.mit.edu 37 19 44777860 44777860 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:44777860G>A ENST00000391958.2 + 5 1174 c.1047G>A c.(1045-1047)cgG>cgA p.R349R ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000592581.1_3'UTR|ZNF233_ENST00000334152.1_Silent_p.R331R NM_181756.2 NP_861421.2 A6NK53 ZN233_HUMAN zinc finger protein 233 349 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1) 20 Prostate(69;0.0435)|all_neural(266;0.226) TATATGCCCGGAGCTCCAACC 0.527000 13 32 0 0 1 0 0 MCPH1 79648 broad.mit.edu 37 8 6303035 6303035 + Nonsense_Mutation SNP G G T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:6303035G>T ENST00000344683.5 + 8 1868 c.1792G>T c.(1792-1794)Gag>Tag p.E598* MCPH1_ENST00000522905.1_Nonsense_Mutation_p.E550*|MCPH1_ENST00000519480.1_Nonsense_Mutation_p.E598* NM_024596.3 NP_078872.2 Q8NEM0 MCPH1_HUMAN microcephalin 1 598 microtubule organizing center AGPAT5/MCPH1(2) central_nervous_system(1)|large_intestine(4)|skin(1) 6 Hepatocellular(245;0.0663) Colorectal(4;0.0505) GTCTACAGAAGAGAAGGAAAA 0.408000 28 44 3.65163e-15 3.71049e-15 1 1 0 GAPVD1 26130 broad.mit.edu 37 9 128124962 128124962 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr9:128124962C>T ENST00000470056.1 + 25 4399 c.4239C>T c.(4237-4239)tcC>tcT p.S1413S GAPVD1_ENST00000265956.4_Silent_p.S1432S|GAPVD1_ENST00000495955.1_Silent_p.S1458S|GAPVD1_ENST00000297933.6_Silent_p.S1440S|GAPVD1_ENST00000394105.2_Silent_p.S1467S|GAPVD1_ENST00000394083.2_Silent_p.S1392S|GAPVD1_ENST00000312123.9_Silent_p.S1419S|GAPVD1_ENST00000394104.2_Silent_p.S1458S Q14C86 GAPD1_HUMAN GTPase activating protein and VPS9 domains 1 1458 VPS9. endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction cytosol|endosome|membrane GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 GAGAGGAGTCCTATTGGTGGA 0.438000 55 33 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100683237 100683237 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:100683237C>T ENST00000306151.4 + 3 8604 c.8540C>T c.(8539-8541)gCc>gTc p.A2847V NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 2847 59 X approximate tandem repeats.|Ser-rich. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity p.A2847G(1) NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) TCTACTAAAGCCAGTTCATCT 0.502000 135 295 0 0 1 0 0 ZNF582 147948 broad.mit.edu 37 19 56896329 56896329 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:56896329C>T ENST00000301310.4 - 5 615 c.457G>A c.(457-459)Gac>Aac p.D153N ZNF582_ENST00000586929.1_Missense_Mutation_p.D153N NM_144690.1 NP_653291.1 Q96NG8 ZN582_HUMAN zinc finger protein 582 153 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) GCATGCTGGTCAAAAGTGGGC 0.378000 41 67 0 0 1 0 0 ABCA9 10350 broad.mit.edu 37 17 67016551 67016551 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:67016551C>T ENST00000340001.4 - 19 2789 c.2578G>A c.(2578-2580)Gaa>Aaa p.E860K ABCA9_ENST00000453985.2_Missense_Mutation_p.E860K|ABCA9_ENST00000370732.2_Missense_Mutation_p.E860K NM_080283.3 NP_525022.2 Q8IUA7 ABCA9_HUMAN ATP-binding cassette, sub-family A (ABC1), member 9 860 transport integral to membrane ATP binding|ATPase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 91 Breast(10;1.47e-12) CTTTTTCTTTCTTTCTTTAAC 0.388000 29 58 0 0 1 0 0 OR6F1 343169 broad.mit.edu 37 1 247875782 247875782 + Missense_Mutation SNP T T C TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:247875782T>C ENST00000302084.2 - 1 323 c.276A>G c.(274-276)atA>atG p.I92M RP11-634B7.4_ENST00000449298.1_RNA NM_001005286.1 NP_001005286.1 Q8NGZ6 OR6F1_HUMAN olfactory receptor, family 6, subfamily F, member 1 92 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2) 47 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.0168) TTGTAAATGATATGGTCTGAC 0.483000 40 16 0 0 1 0 0 CACNA1S 779 broad.mit.edu 37 1 201021714 201021714 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:201021714G>A ENST00000362061.3 - 32 4150 c.3924C>T c.(3922-3924)acC>acT p.T1308T CACNA1S_ENST00000367338.3_Silent_p.T1289T NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 1308 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) CTTGTGGGAAGGTCTGGAAGT 0.557000 41 53 0 0 1 0 0 AMER1 139285 broad.mit.edu 37 X 63411019 63411019 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:63411019G>A ENST00000330258.3 - 2 2420 c.2148C>T c.(2146-2148)acC>acT p.T716T AMER1_ENST00000374869.3_Silent_p.T716T|AMER1_ENST00000403336.1_Silent_p.T716T NM_152424.3 NP_689637.3 APC membrane recruitment protein 1 p.0?(67) GCATCAGGCAGGTACTTTGAT 0.522000 36 36 0 0 1 0 0 MYO9B 4650 broad.mit.edu 37 19 17291808 17291808 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:17291808C>T ENST00000595618.1 + 15 2444 c.2292C>T c.(2290-2292)ctC>ctT p.L764L MYO9B_ENST00000594824.1_Silent_p.L764L|MYO9B_ENST00000397274.2_Silent_p.L764L NM_001130065.1|NM_004145.3 NP_001123537.1|NP_004136.2 Q13459 MYO9B_HUMAN myosin IXB 764 Myosin head-like. actin filament-based movement cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4) 39 GTAGCCTTCTCCAGTCCCTCA 0.612000 23 44 0 0 1 0 0 CSH2 1443 broad.mit.edu 37 17 61949552 61949552 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:61949552C>T ENST00000392886.2 - 5 739 c.588G>A c.(586-588)atG>atA p.M196I CSH2_ENST00000560142.1_Missense_Mutation_p.M139I|CSH2_ENST00000345366.7_Missense_Mutation_p.M101I|CSH2_ENST00000336844.5_3'UTR NM_020991.3 NP_066271.1 P01243 CSH_HUMAN chorionic somatomammotropin hormone 2 196 female pregnancy|signal transduction extracellular region hormone activity|metal ion binding endometrium(2)|large_intestine(1)|lung(3) 6 CGACCTTGTCCATGTCCTTCC 0.562000 46 65 0 0 1 0 0 RPL39 6170 broad.mit.edu 37 X 118920696 118920696 + Splice_Site SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:118920696C>T ENST00000361575.3 - 3 174 c.e3-1 RPL39_ENST00000468844.1_Splice_Site NM_001000.2 NP_000991.1 P62891 RL39_HUMAN ribosomal protein L39 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit RNA binding|structural constituent of ribosome endometrium(1)|large_intestine(2) 3 GGAGTTGTACCTACACAGAAA 0.408000 54 66 0 0 1 0 0 DISP2 85455 broad.mit.edu 37 15 40660844 40660844 + Nonsense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr15:40660844G>A ENST00000267889.3 + 8 2618 c.2531G>A c.(2530-2532)tGg>tAg p.W844* NM_033510.1 NP_277045.1 A7MBM2 DISP2_HUMAN dispatched homolog 2 (Drosophila) 844 smoothened signaling pathway integral to membrane breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4) 30 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247) CTCCAGCGCTGGATGGAGAGC 0.657000 15 26 0 0 1 0 0 PHACTR1 221692 broad.mit.edu 37 6 13185136 13185136 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr6:13185136C>T ENST00000379345.2 + 5 576 c.335C>T c.(334-336)cCt>cTt p.P112L PHACTR1_ENST00000332995.7_Intron|PHACTR1_ENST00000379350.1_Intron|PHACTR1_ENST00000457702.2_Intron Q9C0D0 PHAR1_HUMAN phosphatase and actin regulator 1 51 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) GCTGCTTTCCCTGGAGACCAT 0.577000 5 55 0 0 1 0 0 PCDHB10 56126 broad.mit.edu 37 5 140573628 140573628 + Silent SNP C C A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:140573628C>A ENST00000239446.4 + 1 1687 c.1503C>A c.(1501-1503)gcC>gcA p.A501A NM_018930.3 NP_061753.1 Q9UN67 PCDBA_HUMAN 501 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 76 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TGCCCCTCGCCTCCCTGGTCT 0.677000 92 141 1.76565e-42 1.80786e-42 1 1 0 SULF1 23213 broad.mit.edu 37 8 70501299 70501299 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:70501299C>T ENST00000260128.4 + 8 1374 c.657C>T c.(655-657)atC>atT p.I219I SULF1_ENST00000419716.3_Silent_p.I219I|SULF1_ENST00000458141.2_Silent_p.I219I|SULF1_ENST00000402687.4_Silent_p.I219I NM_015170.2 NP_055985.2 Q8IWU6 SULF1_HUMAN sulfatase 1 219 apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway cell surface|endoplasmic reticulum|extracellular space|Golgi stack arylsulfatase activity|calcium ion binding breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 Breast(64;0.0654) Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534) TGATGGTGATCAGCCACGCTG 0.468000 20 24 0 0 1 0 0 GFRA1 2674 broad.mit.edu 37 10 117884975 117884975 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:117884975G>A ENST00000439649.3 - 5 879 c.512C>T c.(511-513)aCc>aTc p.T171I GFRA1_ENST00000544592.1_Missense_Mutation_p.T55I|GFRA1_ENST00000355422.6_Missense_Mutation_p.T176I|GFRA1_ENST00000369236.1_Missense_Mutation_p.T171I NM_001145453.1 NP_001138925.1 P56159 GFRA1_HUMAN GDNF family receptor alpha 1 176 axon guidance anchored to membrane|extrinsic to membrane|plasma membrane glial cell-derived neurotrophic factor receptor activity endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1) 26 Lung NSC(174;0.21) all cancers(201;0.0337) GGTGCACGGGGTGATGTACGC 0.582000 19 36 0 0 1 0 0 RAB26 25837 broad.mit.edu 37 16 2201701 2201701 + Nonsense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr16:2201701G>A ENST00000210187.6 + 4 514 c.354G>A c.(352-354)tgG>tgA p.W118* RAB26_ENST00000541451.1_Nonsense_Mutation_p.W52* NM_014353.4 NP_055168.2 Q9ULW5 RAB26_HUMAN RAB26, member RAS oncogene family 118 exocrine system development|protein transport|regulation of exocytosis|small GTPase mediated signal transduction intrinsic to plasma membrane GTP binding|protein binding kidney(1)|large_intestine(1)|lung(3) 5 TGCAGATGTGGGACACAGCTG 0.632000 18 24 0 0 1 0 0 HSPA14 51182 broad.mit.edu 37 10 14909102 14909102 + Silent SNP T T C TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:14909102T>C ENST00000378372.3 + 11 1253 c.1014T>C c.(1012-1014)tcT>tcC p.S338S NM_016299.2 NP_057383.2 Q0VDF9 HSP7E_HUMAN heat shock 70kDa protein 14 338 'de novo' cotranslational protein folding cytosol ATP binding|protein binding breast(4)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(2) 17 GTGGAGGGTCTTCTCGAATCC 0.383000 36 68 0 0 1 0 0 A1CF 29974 broad.mit.edu 37 10 52573680 52573680 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:52573680C>T ENST00000395489.2 - 12 1659 c.1263G>A c.(1261-1263)ggG>ggA p.G421G A1CF_ENST00000282641.2_Silent_p.G428G|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000374001.1_Silent_p.G420G|A1CF_ENST00000373993.1_Silent_p.G428G|A1CF_ENST00000373995.3_Silent_p.G428G|A1CF_ENST00000395495.1_Silent_p.G373G|A1CF_ENST00000373997.3_Silent_p.G420G|A1CF_ENST00000493415.1_5'UTR NM_001198819.1 NP_001185748.1 Q9NQ94 A1CF_HUMAN APOBEC1 complementation factor 428 cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm nucleotide binding|protein binding|single-stranded RNA binding NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3) 29 TGAGCTCCATCCCAGGTAAAA 0.458000 36 61 0 0 1 0 0 HMBOX1 79618 broad.mit.edu 37 8 28904909 28904909 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:28904909C>T ENST00000397358.3 + 9 1673 c.969C>T c.(967-969)tcC>tcT p.S323S HMBOX1_ENST00000517386.1_3'UTR|HMBOX1_ENST00000444075.1_Silent_p.S323S|HMBOX1_ENST00000355231.5_Silent_p.S323S|HMBOX1_ENST00000287701.10_Silent_p.S323S|HMBOX1_ENST00000558662.1_Silent_p.S323S|HMBOX1_ENST00000524238.1_Silent_p.S323S|HMBOX1_ENST00000519047.1_Silent_p.S323S|HMBOX1_ENST00000523613.1_Silent_p.S323S NM_024567.3 NP_078843.2 Q6NT76 HMBX1_HUMAN homeobox containing 1 323 negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent cytoplasm|nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1) 11 Ovarian(32;0.0192) KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161) GAGTTACCTCCCTGAAAGTAT 0.378000 23 38 0 0 1 0 0 ZNF473 25888 broad.mit.edu 37 19 50548313 50548313 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:50548313G>A ENST00000595661.1 + 6 1108 c.613G>A c.(613-615)Ggg>Agg p.G205R CTD-2126E3.3_ENST00000599410.1_RNA|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000445728.3_Missense_Mutation_p.G193R|ZNF473_ENST00000270617.3_Missense_Mutation_p.G205R|ZNF473_ENST00000391821.2_Missense_Mutation_p.G205R|ZNF473_ENST00000601364.1_Intron Q8WTR7 ZN473_HUMAN zinc finger protein 473 205 histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription Cajal body DNA binding|protein binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 37 all_neural(266;0.0459)|Ovarian(192;0.0728) GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058) TGTTCAGGAAGGGGAGAAACC 0.463000 33 45 0 0 1 0 0 PCDHA3 56145 broad.mit.edu 37 5 140183220 140183220 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:140183220C>T ENST00000532566.2 + 1 2438 c.2438C>T c.(2437-2439)tCa>tTa p.S813L PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron NM_031497.1 NP_113685.1 NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTTTGTTTTTCATTCCTCAAT 0.338000 11 25 0 0 1 0 0 DUSP16 80824 broad.mit.edu 37 12 12630841 12630841 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:12630841C>T ENST00000228862.2 - 7 1555 c.924G>A c.(922-924)aaG>aaA p.K308K DUSP16_ENST00000298573.4_3'UTR|DUSP16_ENST00000545864.1_5'UTR NM_030640.2 NP_085143.1 Q9BY84 DUS16_HUMAN dual specificity phosphatase 16 308 inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive cytoplasmic membrane-bounded vesicle|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3) 26 Prostate(47;0.0687) BRCA - Breast invasive adenocarcinoma(232;0.0203) TGAGTTTGCTCTTTGGCCCTG 0.493000 38 85 0 0 1 0 0 GUSB 2990 broad.mit.edu 37 7 65441106 65441106 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:65441106C>T ENST00000304895.4 - 5 938 c.808G>A c.(808-810)Gtg>Atg p.V270M GUSB_ENST00000421103.1_Intron|GUSB_ENST00000476486.1_5'UTR|GUSB_ENST00000345660.6_Missense_Mutation_p.V270M NM_000181.3 NP_000172.2 P08236 BGLR_HUMAN glucuronidase, beta 270 glycosaminoglycan catabolic process lysosome beta-glucuronidase activity|cation binding breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1) 20 CCATTCGCCACGACTTTGTTT 0.517000 17 60 0 0 1 0 0 ZDBF2 57683 broad.mit.edu 37 2 207174284 207174284 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:207174284C>T ENST00000374423.3 + 5 5418 c.5032C>T c.(5032-5034)Cac>Tac p.H1678Y NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 1678 nucleic acid binding|zinc ion binding endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 TCGAACGACTCACCGACTGCA 0.408000 23 9 0 0 1 0 0 FLYWCH2 114984 broad.mit.edu 37 16 2946540 2946540 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr16:2946540G>A ENST00000396958.3 + 3 470 c.90G>A c.(88-90)ccG>ccA p.P30P FLYWCH2_ENST00000572006.1_Silent_p.P30P|FLYWCH2_ENST00000293981.6_Silent_p.P30P NM_001142500.1|NM_138439.2 NP_001135972.1|NP_612448.1 Q96CP2 FWCH2_HUMAN FLYWCH family member 2 30 central_nervous_system(1)|lung(3)|ovary(1)|skin(1) 6 AAGTCATCCCGGCAGCCCCCA 0.652000 37 54 0 0 1 0 0 SALL3 27164 broad.mit.edu 37 18 76752297 76752297 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr18:76752297C>T ENST00000575389.2 + 2 306 c.306C>T c.(304-306)tcC>tcT p.S102S SALL3_ENST00000536229.3_5'UTR|SALL3_ENST00000537592.2_Silent_p.S102S Q9BXA9 SALL3_HUMAN spalt-like transcription factor 3 102 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) CCGCCAGCTCCCCCAGCGAGC 0.766000 7 5 0 0 1 0 0 CADM1 23705 broad.mit.edu 37 11 115047237 115047237 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:115047237C>T ENST00000542447.2 - 9 1330 c.1202G>A c.(1201-1203)gGa>gAa p.G401E CADM1_ENST00000537058.1_Missense_Mutation_p.G440E|CADM1_ENST00000331581.6_Missense_Mutation_p.G458E|CADM1_ENST00000536727.1_Missense_Mutation_p.G430E|CADM1_ENST00000537140.1_Intron|CADM1_ENST00000452722.2_Missense_Mutation_p.G429E NM_001098517.1 NP_001091987.1 Q9BY67 CADM1_HUMAN cell adhesion molecule 1 429 adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity basolateral plasma membrane|cell-cell junction|integral to membrane PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1) 32 all_hematologic(175;0.0628) all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237) BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303) GTTCTGTCCTCCTTCTGCATT 0.438000 49 85 0 0 1 0 0 FRAS1 80144 broad.mit.edu 37 4 79360167 79360167 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr4:79360167C>T ENST00000264895.6 + 40 5918 c.5478C>T c.(5476-5478)atC>atT p.I1826I FRAS1_ENST00000325942.6_Silent_p.I1826I NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 1825 cell communication integral to membrane|plasma membrane metal ion binding breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 CCATCATGATCACTCCTGCTG 0.398000 67 86 0 0 1 0 0 HGS 9146 broad.mit.edu 37 17 79655763 79655763 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:79655763G>A ENST00000329138.4 + 5 456 c.321G>A c.(319-321)aaG>aaA p.K107K NM_004712.4 NP_004703.1 O14964 HGS_HUMAN hepatocyte growth factor-regulated tyrosine kinase substrate 107 VHS. cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process cytosol|early endosome membrane|multivesicular body membrane metal ion binding|protein domain specific binding endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 12 all_neural(118;0.0878)|all_lung(278;0.23) BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955) TCCGTAACAAGATCCTGTACC 0.597000 11 18 0 0 1 0 0 GALNS 2588 broad.mit.edu 37 16 88908345 88908345 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr16:88908345G>A ENST00000268695.5 - 3 367 c.279C>T c.(277-279)atC>atT p.I93I GALNS_ENST00000565364.1_5'UTR|GALNS_ENST00000542788.1_Intron NM_000512.4 NP_000503.1 P34059 GALNS_HUMAN galactosamine (N-acetyl)-6-sulfate sulfatase 93 lysosome metal ion binding|N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8) 22 BRCA - Breast invasive adenocarcinoma(80;0.0496) Hyaluronidase(DB00070) AGCCATTGCGGATGGGTAGCC 0.617000 6 8 0 0 1 0 0 MRM1 79922 broad.mit.edu 37 17 34964823 34964823 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:34964823C>T ENST00000250156.7 + 5 1273 c.1034C>T c.(1033-1035)cCa>cTa p.P345L MRM1_ENST00000585770.1_Missense_Mutation_p.P150L NM_024864.3 NP_079140.2 Q6IN84 MRM1_HUMAN mitochondrial rRNA methyltransferase 1 homolog (S. cerevisiae) 345 RNA processing mitochondrion RNA binding|RNA methyltransferase activity NS(1)|endometrium(1)|large_intestine(2)|lung(1) 5 Breast(25;0.00957)|Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0184) TCTTCAGGCCCAGAGAAAGAG 0.617000 29 70 0 0 1 0 0 DICER1 23405 broad.mit.edu 37 14 95562407 95562407 + Missense_Mutation SNP A A T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr14:95562407A>T ENST00000526495.1 - 25 5141 c.4850T>A c.(4849-4851)cTt>cAt p.L1617H DICER1_ENST00000343455.3_Missense_Mutation_p.L1617H|DICER1_ENST00000527414.1_Missense_Mutation_p.L1617H|DICER1_ENST00000393063.1_Missense_Mutation_p.L1617H|DICER1_ENST00000541352.1_Missense_Mutation_p.L1617H|DICER1_ENST00000556045.1_Missense_Mutation_p.L515H Q9UPY3 DICER_HUMAN dicer 1, ribonuclease type III 1617 negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference cytosol|RNA-induced silencing complex ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3) 75 all_cancers(154;0.0621)|all_epithelial(191;0.223) Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215) GCTCACTGAAAGGTTCTTTTG 0.473000 """Mis F, N""" """sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma""" pleuropulmonary blastoma Familial Multinodular Goiter ;DICER 1 syndrome 127 194 0 0 1 0 0 ZNF224 7767 broad.mit.edu 37 19 44605296 44605296 + Silent SNP A A C TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:44605296A>C ENST00000336976.6 + 5 407 c.153A>C c.(151-153)gcA>gcC p.A51A NM_013398.2 NP_037530.2 Q9NZL3 ZN224_HUMAN zinc finger protein 224 51 KRAB. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1) 19 Prostate(69;0.0435) GACATCAAGCATTCCACAGGG 0.398000 30 35 0 0 1 0 0 COL6A1 1291 broad.mit.edu 37 21 47422152 47422152 + Nonsense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr21:47422152G>A ENST00000361866.3 + 32 2201 c.2087G>A c.(2086-2088)tGg>tAg p.W696* COL6A1_ENST00000498614.1_3'UTR NM_001848.2 NP_001839.2 P12109 CO6A1_HUMAN collagen, type VI, alpha 1 696 C-terminal globular domain.|VWFA 2. axon guidance|cell adhesion|protein heterotrimerization collagen type VI|protein complex platelet-derived growth factor binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 all_hematologic(128;0.24) Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649) Palifermin(DB00039) AGCCTGCAGTGGATGGCGGGC 0.697000 5 3 0 0 1 0 0 ELOVL1 64834 broad.mit.edu 37 1 43830433 43830433 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:43830433G>A ENST00000372458.3 - 5 468 c.351C>T c.(349-351)tcC>tcT p.S117S ELOVL1_ENST00000470769.1_5'UTR|ELOVL1_ENST00000413844.2_Silent_p.S90S NM_001256399.1|NM_001256402.1|NM_022821.3 NP_001243328.1|NP_001243331.1|NP_073732.1 Q9BW60 ELOV1_HUMAN ELOVL fatty acid elongase 1 117 fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|sphingolipid biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process integral to endoplasmic reticulum membrane fatty acid elongase activity|protein binding endometrium(1)|kidney(1)|large_intestine(1)|prostate(1) 4 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) CAATGAACTTGGAGAAGAGGA 0.498000 38 42 0 0 1 0 0 IL1RN 3557 broad.mit.edu 37 2 113885246 113885246 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:113885246C>T ENST00000409930.3 + 1 109 c.45C>T c.(43-45)ctC>ctT p.L15L IL1RN_ENST00000409052.1_Intron|IL1RN_ENST00000259206.5_Intron|IL1RN_ENST00000361779.3_Intron|IL1RN_ENST00000354115.2_Intron NM_173842.2 NP_776214.1 P18510 IL1RA_HUMAN interleukin 1 receptor antagonist 15 immune response|inflammatory response|response to glucocorticoid stimulus centrosome|extracellular space|nucleus|plasma membrane cytokine activity|interleukin-1 receptor antagonist activity breast(1)|large_intestine(2)|lung(4)|ovary(1)|skin(2) 10 Anakinra(DB00026) TCACTCTCCTCCTCTTCCTGT 0.537000 Lichen Sclerosis et Atrophicus, Familial Clustering of 20 33 0 0 1 0 0 PKHD1 5314 broad.mit.edu 37 6 51524373 51524373 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr6:51524373G>A ENST00000371117.3 - 61 10826 c.10551C>T c.(10549-10551)ccC>ccT p.P3517P NM_138694.3 NP_619639.3 P08F94 PKHD1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive) 3517 cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5) 304 Lung NSC(77;0.0605) GAACCAGAGTGGGTGGAATAA 0.443000 14 26 0 0 1 0 0 CCL24 6369 broad.mit.edu 37 7 75442721 75442721 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:75442721G>A ENST00000416943.1 - 3 187 c.94C>T c.(94-96)Ccc>Tcc p.P32S CCL24_ENST00000222902.2_Missense_Mutation_p.P32S NM_002991.2 NP_002982.2 O00175 CCL24_HUMAN chemokine (C-C motif) ligand 24 32 cell-cell signaling|chemotaxis|immune response|inflammatory response|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|positive regulation of Rac GTPase activity|signal transduction extracellular space chemokine activity endometrium(1)|lung(2) 3 ATGCAGCAGGGAGAGGGGATG 0.557000 23 67 0 0 1 0 0 EPPK1 83481 broad.mit.edu 37 8 144942786 144942786 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:144942786C>T ENST00000525985.1 - 2 4707 c.4636G>A c.(4636-4638)Gag>Aag p.E1546K P58107 EPIPL_HUMAN epiplakin 1 1546 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) TGGCTCAGCTCGTCCAGCGTC 0.632000 5 6 0 0 1 0 0 AUTS2 26053 broad.mit.edu 37 7 70249984 70249984 + Missense_Mutation SNP C C T rs34479874 TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:70249984C>T ENST00000342771.4 + 16 2524 c.2203C>T c.(2203-2205)Ctc>Ttc p.L735F AUTS2_ENST00000406775.2_Missense_Mutation_p.L711F NM_015570.2 NP_056385.1 Q8WXX7 AUTS2_HUMAN autism susceptibility candidate 2 735 breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 50 all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093) LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186) CAGCAACTTCCTCAACCCTGC 0.517000 39 40 0 0 1 0 0 ZNF766 90321 broad.mit.edu 37 19 52794329 52794329 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:52794329C>T ENST00000439461.1 + 4 1328 c.1285C>T c.(1285-1287)Cat>Tat p.H429Y CTD-2525I3.5_ENST00000594865.1_RNA|ZNF766_ENST00000359102.4_Missense_Mutation_p.H444Y|ZNF766_ENST00000593612.1_Missense_Mutation_p.H444Y|ZNF766_ENST00000599581.1_3'UTR NM_001010851.2 NP_001010851.1 Q5HY98 ZN766_HUMAN zinc finger protein 766 429 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(5)|prostate(1) 17 GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871) CCTTGCAAATCATCAGAGAAT 0.413000 30 48 0 0 1 0 0 ATRX 546 broad.mit.edu 37 X 76889054 76889054 + Splice_Site SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:76889054C>T ENST00000373344.5 - 18 5170 c.4956_splice c.e18+1 p.E1652_splice ATRX_ENST00000395603.3_Splice_Site_p.E1614_splice|ATRX_ENST00000480283.1_5'UTR NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 1652 Helicase ATP-binding. DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) AATAAGTTACCTCAAGCTTCT 0.279000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 34 58 0 0 1 0 0 CXorf22 170063 broad.mit.edu 37 X 35994002 35994002 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:35994002G>A ENST00000297866.5 + 15 2751 c.2685G>A c.(2683-2685)ggG>ggA p.G895G NM_152632.3 NP_689845.2 Q6ZTR5 CX022_HUMAN chromosome X open reading frame 22 895 breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3) 44 CAGGAAGAGGGATAGCATTTT 0.333000 74 129 0 0 1 0 0 NPHP4 261734 broad.mit.edu 37 1 6007209 6007209 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:6007209G>A ENST00000378156.4 - 9 1339 c.1074C>T c.(1072-1074)ttC>ttT p.F358F NPHP4_ENST00000478423.2_5'UTR NM_015102.3 NP_055917.1 O75161 NPHP4_HUMAN nephronophthisis 4 358 actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior cell-cell junction|centrosome|cilium|microtubule basal body protein binding|structural molecule activity NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4) 47 Ovarian(185;0.0634) all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213) Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649) ACTCCAGCTGGAAGATGACCG 0.572000 27 26 0 0 1 0 0 PPP1R13L 10848 broad.mit.edu 37 19 45885896 45885896 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:45885896G>A ENST00000418234.2 - 12 2415 c.2337C>T c.(2335-2337)ttC>ttT p.F779F PPP1R13L_ENST00000360957.5_Silent_p.F779F NM_001142502.1 NP_001135974.1 Q8WUF5 IASPP_HUMAN protein phosphatase 1, regulatory subunit 13 like 779 SH3. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus transcription corepressor activity|transcription factor binding breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0182) CGCCCTCGCGGAAGGACAGCT 0.682000 24 30 0 0 1 0 0 CFAP221 200373 broad.mit.edu 37 2 120395869 120395869 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:120395869C>T ENST00000602047.1 + 21 2263 c.1151C>T c.(1150-1152)cCt>cTt p.P384L PCDP1_ENST00000413369.3_Missense_Mutation_p.P670L Q4G0U5 PCDP1_HUMAN 670 cilium calmodulin binding Colorectal(110;0.196) GTAATGCATCCTCTGACCTAT 0.463000 68 114 0 0 1 0 0 L1CAM 3897 broad.mit.edu 37 X 153130378 153130378 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:153130378C>T ENST00000370060.1 - 23 3133 c.2944G>A c.(2944-2946)Gat>Aat p.D982N L1CAM_ENST00000370055.1_Missense_Mutation_p.D977N|L1CAM_ENST00000543994.1_Missense_Mutation_p.D984N|L1CAM_ENST00000361981.3_Missense_Mutation_p.D977N|L1CAM_ENST00000538883.1_Missense_Mutation_p.D984N|L1CAM_ENST00000370057.3_Missense_Mutation_p.D982N|L1CAM_ENST00000361699.4_Missense_Mutation_p.D982N NM_001278116.1 NP_001265045.1 P32004 L1CAM_HUMAN L1 cell adhesion molecule 982 Fibronectin type-III 4. axon guidance|blood coagulation|cell death|leukocyte migration integral to membrane NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 81 all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GGGCTGAGATCGGTCAGGTTG 0.622000 110 143 0 0 1 0 0 APOBR 55911 broad.mit.edu 37 16 28508178 28508178 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr16:28508178C>T ENST00000564831.1 + 2 1849 c.1816C>T c.(1816-1818)Ccc>Tcc p.P606S APOBR_ENST00000328423.5_Missense_Mutation_p.P597S|APOBR_ENST00000431282.1_Missense_Mutation_p.P597S NM_018690.3 NP_061160.3 Q0VD83 APOBR_HUMAN apolipoprotein B receptor 597 Glu-rich. cholesterol metabolic process|lipid transport chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1) 29 GGAGGCAGGTCCCAGGCACGC 0.612000 3 1 0 0 1 0 0 BCAN 63827 broad.mit.edu 37 1 156621425 156621425 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:156621425G>A ENST00000329117.4 + 7 1577 c.1241G>A c.(1240-1242)gGa>gAa p.G414E BCAN_ENST00000361588.5_Missense_Mutation_p.G414E|RP11-284F21.7_ENST00000448869.1_RNA NM_021948.4 NP_068767.3 Q96GW7 PGCB_HUMAN brevican 414 Glu-rich. 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) ATGGAGGACGGAGGAGGTGGA 0.562000 41 57 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132549426 132549426 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:132549426C>T ENST00000333577.4 + 49 8765 c.8656C>T c.(8656-8658)Cgg>Tgg p.R2886W EP400_ENST00000389561.2_Missense_Mutation_p.R2850W|EP400_ENST00000330386.6_Missense_Mutation_p.R2769W|EP400_ENST00000389562.2_Missense_Mutation_p.R2849W|EP400_ENST00000332482.4_Missense_Mutation_p.R2813W Q96L91 EP400_HUMAN E1A binding protein p400 2886 histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) CCAGGTGGCCCGGCTCGTAAG 0.592000 6 18 0 0 1 0 0 CHIT1 1118 broad.mit.edu 37 1 203194943 203194943 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:203194943C>T ENST00000367229.1 - 3 145 c.111G>A c.(109-111)ggG>ggA p.G37G CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000535569.1_Silent_p.G47G|CHIT1_ENST00000255427.3_Silent_p.G37G NM_001270509.1|NM_003465.2 NP_001257438.1|NP_003456.1 Q13231 CHIT1_HUMAN chitinase 1 (chitotriosidase) 37 chitin catabolic process|immune response|response to bacterium extracellular space|lysosome cation binding|chitin binding|endochitinase activity central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2) 27 AGCGAGCCTCCCCCTGTCTGT 0.582000 15 21 0 0 1 0 0 ST8SIA3 51046 broad.mit.edu 37 18 55020183 55020183 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr18:55020183G>A ENST00000324000.3 + 1 2140 c.106G>A c.(106-108)Gag>Aag p.E36K NM_015879.2 NP_056963.2 O43173 SIA8C_HUMAN ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 36 glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3) 36 READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205) CCTGAAAAAGGAGAACATCTT 0.592000 29 51 0 0 1 0 0 EPHA3 2042 broad.mit.edu 37 3 89390208 89390208 + Silent SNP C C A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:89390208C>A ENST00000336596.2 + 4 1182 c.957C>A c.(955-957)tcC>tcA p.S319S EPHA3_ENST00000452448.2_Silent_p.S319S|EPHA3_ENST00000494014.1_Silent_p.S319S NM_005233.5 NP_005224.2 P29320 EPHA3_HUMAN EPH receptor A3 319 Cys-rich. extracellular region|integral to plasma membrane ATP binding NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5) 139 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) ACCCTCCATCCATGGCTTGTA 0.438000 TSP Lung(6;0.00050) 36 69 2.51541e-25 2.57239e-25 1 1 0 WIZ 58525 broad.mit.edu 37 19 15535767 15535767 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:15535767G>A ENST00000389282.4 - 8 4470 c.4257C>T c.(4255-4257)caC>caT p.H1419H WIZ_ENST00000545156.1_Silent_p.H733H|WIZ_ENST00000263381.6_Silent_p.H562H|WIZ_ENST00000599910.1_Silent_p.H736H|WIZ_ENST00000599686.2_Silent_p.H603H O95785 WIZ_HUMAN widely interspaced zinc finger motifs 1419 nucleus zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1) 24 ACTGCCGCAGGTGTGCCCGTG 0.667000 7 6 0 0 1 0 0 AFF2 2334 broad.mit.edu 37 X 147744217 147744217 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:147744217C>T ENST00000370460.2 + 3 1448 c.969C>T c.(967-969)ctC>ctT p.L323L AFF2_ENST00000370458.1_Silent_p.L319L|AFF2_ENST00000342251.3_Silent_p.L319L|AFF2_ENST00000370457.5_Silent_p.L319L NM_001169123.1|NM_002025.3 NP_001162594.1|NP_002016.2 P51816 AFF2_HUMAN AF4/FMR2 family, member 2 323 brain development|mRNA processing|regulation of RNA splicing|RNA splicing nuclear speck G-quadruplex RNA binding|protein binding breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 109 Acute lymphoblastic leukemia(192;6.56e-05) TTGGAACACTCTTGGATGGAA 0.433000 55 50 0 0 1 0 0 TGFBR1 7046 broad.mit.edu 37 9 101900209 101900209 + Nonsense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr9:101900209C>T ENST00000374994.4 + 4 760 c.643C>T c.(643-645)Cga>Tga p.R215* TGFBR1_ENST00000552516.1_Nonsense_Mutation_p.R219*|TGFBR1_ENST00000550253.1_Nonsense_Mutation_p.R146*|TGFBR1_ENST00000374990.2_Nonsense_Mutation_p.R138* NM_004612.2 NP_004603.1 P36897 TGFR1_HUMAN transforming growth factor, beta receptor 1 215 Protein kinase. activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1) 27 Acute lymphoblastic leukemia(62;0.0559) TGGCAAAGGTCGATTTGGAGA 0.408000 30 10 0 0 1 0 0 PEAK1 79834 broad.mit.edu 37 15 77473953 77473953 + Nonsense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr15:77473953G>A ENST00000560626.2 - 4 791 c.316C>T c.(316-318)Cga>Tga p.R106* PEAK1_ENST00000312493.4_Nonsense_Mutation_p.R106*|PEAK1_ENST00000558305.1_Nonsense_Mutation_p.R106* Q9H792 PEAK1_HUMAN pseudopodium-enriched atypical kinase 1 106 cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading actin cytoskeleton|cytoplasm|focal adhesion ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding GCTCTGTTTCGGTTCCACCCT 0.423000 59 88 0 0 1 0 0 C1orf110 339512 broad.mit.edu 37 1 162824805 162824805 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:162824805C>T ENST00000367910.1 - 4 779 c.659G>A c.(658-660)gGg>gAg p.G220E C1orf110_ENST00000367912.1_Intron|C1orf110_ENST00000524691.1_Intron|C1orf110_ENST00000367911.2_Intron NM_178550.4 NP_848645.3 Q86UF4 CA110_HUMAN chromosome 1 open reading frame 110 220 endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2) 12 TCCAGTGTTCCCATCTGGCTT 0.463000 40 36 0 0 1 0 0 RIMS2 9699 broad.mit.edu 37 8 105257206 105257206 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:105257206G>A ENST00000507740.1 + 18 3075 c.2839G>A c.(2839-2841)Gaa>Aaa p.E947K RIMS2_ENST00000436393.2_Missense_Mutation_p.E1151K|RIMS2_ENST00000406091.3_Missense_Mutation_p.E1133K|RIMS2_ENST00000262231.10_Missense_Mutation_p.E972K|RIMS2_ENST00000339750.2_Missense_Mutation_p.E69K NM_014677.4 NP_055492.3 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 1195 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) CCTGGCCGTGGAAATGAGGAA 0.463000 HNSCC(12;0.0054) 51 86 0 0 1 0 0 GATA5 140628 broad.mit.edu 37 20 61039979 61039979 + Silent SNP A A G TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr20:61039979A>G ENST00000252997.2 - 7 1168 c.1107T>C c.(1105-1107)ttT>ttC p.F369F NM_080473.4 NP_536721.1 Q9BWX5 GATA5_HUMAN GATA binding protein 5 369 blood coagulation|intestinal epithelial cell differentiation|positive regulation of transcription from RNA polymerase II promoter nucleoplasm sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding kidney(1)|lung(3)|ovary(1)|stomach(1) 6 Breast(26;2.05e-08) BRCA - Breast invasive adenocarcinoma(19;3.08e-06) AGGGGAAGGCAAAGTCCTCAG 0.672000 15 38 0 0 1 0 0 PPP1R3F 89801 broad.mit.edu 37 X 49142332 49142332 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:49142332G>A ENST00000055335.6 + 4 1196 c.1180G>A c.(1180-1182)Gaa>Aaa p.E394K PPP1R3F_ENST00000495799.1_Missense_Mutation_p.E48K|PPP1R3F_ENST00000376188.1_Missense_Mutation_p.E48K|PPP1R3F_ENST00000466508.1_Missense_Mutation_p.E48K|PPP1R3F_ENST00000438316.1_Missense_Mutation_p.E65K NM_033215.4 NP_149992.3 Q6ZSY5 PPR3F_HUMAN protein phosphatase 1, regulatory subunit 3F 394 integral to membrane endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4) 27 Ovarian(276;0.236) CCCCGCAGAAGAAGGTGATGT 0.607000 17 36 0 0 1 0 0 NHLH2 4808 broad.mit.edu 37 1 116380887 116380887 + Nonsense_Mutation SNP G G T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:116380887G>T ENST00000369506.1 - 1 5651 c.107C>A c.(106-108)tCg>tAg p.S36* NHLH2_ENST00000320238.3_Nonsense_Mutation_p.S36* Q02577 HEN2_HUMAN nescient helix loop helix 2 36 cell differentiation|central nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding prostate(1) 1 Lung SC(450;0.184) all_cancers(81;1.75e-06)|all_epithelial(167;1.16e-06)|all_lung(203;9.55e-06)|Lung NSC(69;5.83e-05) Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12) CTCCAGGTCCGACACGCTGCC 0.716000 5 7 0.184627 0.184683 1 1 0 IDO1 3620 broad.mit.edu 37 8 39785653 39785653 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:39785653C>T ENST00000518237.1 + 10 1800 c.1161C>T c.(1159-1161)ttC>ttT p.F387F IDO1_ENST00000522495.1_Silent_p.F387F|RP11-44K6.3_ENST00000517623.1_RNA NM_002164.5 NP_002155.1 P14902 I23O1_HUMAN indoleamine 2,3-dioxygenase 1 387 female pregnancy|tryptophan catabolic process cytosol electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2) 12 L-Tryptophan(DB00150) TAATGAATTTCCTGAAGACTG 0.418000 5 9 0 0 1 0 0 ZNF585A 199704 broad.mit.edu 37 19 37643441 37643441 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:37643441G>A ENST00000356958.4 - 5 1618 c.1360C>T c.(1360-1362)Cat>Tat p.H454Y ZNF585A_ENST00000292841.5_Missense_Mutation_p.H399Y|ZNF585A_ENST00000392157.2_Missense_Mutation_p.H399Y|ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000355533.2_Intron Q6P3V2 Z585A_HUMAN zinc finger protein 585A 454 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 42 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TTATGAACATGGAGTTGCGAC 0.403000 62 118 0 0 1 0 0 CDH4 1002 broad.mit.edu 37 20 60498647 60498647 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr20:60498647C>T ENST00000360469.5 + 10 1601 c.1513C>T c.(1513-1515)Ccc>Tcc p.P505S CDH4_ENST00000543233.1_Missense_Mutation_p.P431S NM_001794.3 NP_001785.2 P55283 CADH4_HUMAN cadherin 4, type 1, R-cadherin (retinal) 505 Cadherin 3. adherens junction organization|cell junction assembly calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 BRCA - Breast invasive adenocarcinoma(19;2.36e-08) CAACGAGGCTCCCTACTTCCC 0.617000 7 24 0 0 1 0 0 PHF13 148479 broad.mit.edu 37 1 6680240 6680240 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:6680240C>T ENST00000377648.4 + 3 901 c.519C>T c.(517-519)tcC>tcT p.S173S PHF13_ENST00000495385.1_Intron NM_153812.2 NP_722519.2 Q86YI8 PHF13_HUMAN PHD finger protein 13 173 cell division|chromatin modification|mitotic chromosome condensation nucleoplasm chromatin binding|methylated histone residue binding|zinc ion binding endometrium(3)|large_intestine(1)|lung(3) 7 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443) Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642) GCTGGGACTCCGATACTCCCT 0.587000 11 23 0 0 1 0 0 NSFL1C 55968 broad.mit.edu 37 20 1424429 1424429 + Silent SNP G G A rs6079152 TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr20:1424429G>A ENST00000216879.4 - 9 1945 c.1078C>T c.(1078-1080)Ctg>Ttg p.L360L NSFL1C_ENST00000461211.1_5'UTR|NSFL1C_ENST00000476071.1_Silent_p.L362L|NSFL1C_ENST00000350991.4_Silent_p.L362L|NSFL1C_ENST00000353088.2_Silent_p.L329L|NSFL1C_ENST00000381658.4_Silent_p.L249L NM_016143.4 NP_057227.2 Q9UNZ2 NSF1C_HUMAN NSFL1 (p97) cofactor (p47) 360 UBX. chromosome|Golgi stack|nucleus lipid binding|protein binding breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 16 GCATTGAGCAGGTTGGCTTCC 0.597000 14 24 0 0 1 0 0 SORBS1 10580 broad.mit.edu 37 10 97194428 97194428 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:97194428G>A ENST00000371247.2 - 5 312 c.123C>T c.(121-123)atC>atT p.I41I SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000353505.5_Silent_p.I41I|SORBS1_ENST00000361941.3_Silent_p.I41I|SORBS1_ENST00000393949.1_Silent_p.I41I|SORBS1_ENST00000347291.4_Silent_p.I41I|SORBS1_ENST00000371245.3_Silent_p.I41I|SORBS1_ENST00000371227.4_Silent_p.I41I|SORBS1_ENST00000277982.5_Silent_p.I41I|SORBS1_ENST00000354106.3_Silent_p.I41I|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000474353.2_Intron|SORBS1_ENST00000306402.6_Silent_p.I41I|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000371246.2_Silent_p.I41I Q9BX66 SRBS1_HUMAN sorbin and SH3 domain containing 1 41 focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens actin binding|insulin receptor binding|SH3/SH2 adaptor activity p.I41I(2) NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 42 Colorectal(252;0.0429) Epithelial(162;1.7e-06)|all cancers(201;6.52e-05) TCACAGGAATGATTTTAACAG 0.463000 16 51 0 0 1 0 0 CDH13 1012 broad.mit.edu 37 16 83159027 83159027 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr16:83159027G>A ENST00000566620.1 + 4 694 c.404G>A c.(403-405)aGa>aAa p.R135K CDH13_ENST00000565636.1_Missense_Mutation_p.R135K|CDH13_ENST00000569454.1_3'UTR|CDH13_ENST00000446376.2_Missense_Mutation_p.R135K|CDH13_ENST00000431540.3_Missense_Mutation_p.R135K|CDH13_ENST00000268613.10_Missense_Mutation_p.R182K|CDH13_ENST00000428848.3_Intron 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 13 135 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) CCTGTCCCAAGACAAAAGAGG 0.383000 16 17 0 0 1 0 0 ATP10B 23120 broad.mit.edu 37 5 159992485 159992485 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:159992485C>T ENST00000327245.5 - 26 5207 c.4361G>A c.(4360-4362)cGa>cAa p.R1454Q NM_025153.2 NP_079429.2 O94823 AT10B_HUMAN ATPase, class V, type 10B 1454 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 NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1) 75 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) ACTCTGGGATCGGCGATGGCT 0.532000 33 62 0 0 1 0 0 FSHR 2492 broad.mit.edu 37 2 49247274 49247274 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:49247274C>T ENST00000406846.2 - 3 369 c.250G>A c.(250-252)Gag>Aag p.E84K FSHR_ENST00000346173.3_Missense_Mutation_p.E84K|FSHR_ENST00000304421.4_Missense_Mutation_p.E84K NM_000145.3 NP_000136.2 P23945 FSHR_HUMAN follicle stimulating hormone receptor 84 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) TCTATCACCTCCAAGACATCA 0.403000 Gonadal Dysgenesis, 46 XX 119 179 0 0 1 0 0 YARS 8565 broad.mit.edu 37 1 33282827 33282827 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:33282827G>A ENST00000373477.4 - 1 927 c.19C>T c.(19-21)Cct>Tct p.P7S NM_003680.3 NP_003671.1 P54577 SYYC_HUMAN tyrosyl-tRNA synthetase 7 apoptosis|tyrosyl-tRNA aminoacylation cytosol|extracellular space|nucleus|soluble fraction ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1) 15 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) L-Tyrosine(DB00135) TTCTCTTCAGGGCTGGGAGCG 0.657000 51 52 0 0 1 0 0 NOC3L 64318 broad.mit.edu 37 10 96093937 96093937 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:96093937G>A ENST00000371361.3 - 21 2500 c.2400C>T c.(2398-2400)caC>caT p.H800H NOC3L_ENST00000543788.1_Intron|NOC3L_ENST00000371350.1_Silent_p.H800H NM_022451.9 NP_071896.8 Q8WTT2 NOC3L_HUMAN nucleolar complex associated 3 homolog (S. cerevisiae) 800 nuclear speck|nucleolus binding endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1) 29 Colorectal(252;0.0897) TCCTCTACTAGTGTAGTGATG 0.333000 16 36 0 0 1 0 0 ADCK2 90956 broad.mit.edu 37 7 140394569 140394569 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:140394569C>T ENST00000072869.4 + 8 2025 c.1847C>T c.(1846-1848)cCc>cTc p.P616L NDUFB2_ENST00000482954.1_Intron|ADCK2_ENST00000476491.1_Intron NM_052853.3 NP_443085.2 Q7Z695 ADCK2_HUMAN aarF domain containing kinase 2 616 Protein kinase. integral to membrane ATP binding|protein serine/threonine kinase activity cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4) 15 Melanoma(164;0.00956) GCAGCGAGGCCCTTCCTCCTC 0.622000 39 41 0 0 1 0 0 ALOX5 240 broad.mit.edu 37 10 45938939 45938939 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:45938939C>T ENST00000374391.2 + 11 1580 c.1527C>T c.(1525-1527)ttC>ttT p.F509F ALOX5_ENST00000542434.1_Silent_p.F509F NM_000698.3|NM_001256153.1 NP_000689.1|NP_001243082.1 P09917 LOX5_HUMAN arachidonate 5-lipoxygenase 509 Lipoxygenase. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 Lung SC(717;0.0257) Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744) TGCAGGACTTCGTGAACGATG 0.687000 15 24 0 0 1 0 0 CDHR5 53841 broad.mit.edu 37 11 618799 618799 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:618799C>T ENST00000358353.3 - 14 2082 c.1760G>A c.(1759-1761)gGa>gAa p.G587E CDHR5_ENST00000349570.7_Intron|CDHR5_ENST00000397542.2_Missense_Mutation_p.G587E Q9HBB8 CDHR5_HUMAN cadherin-related family member 5 587 4 X 31 AA approximate tandem repeats. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2) 23 GGTGCTGGTTCCCATACTGGG 0.667000 63 121 0 0 1 0 0 KCNK1 3775 broad.mit.edu 37 1 233807018 233807018 + Splice_Site SNP T T C TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:233807018T>C ENST00000366621.3 + 3 921 c.751_splice c.e3-1 p.C251_splice KCNK1_ENST00000472190.1_3'UTR|KCNK1_ENST00000366620.1_Splice_Site_p.C135_splice NM_002245.3 NP_002236.1 O00180 KCNK1_HUMAN potassium channel, subfamily K, member 1 251 voltage-gated potassium channel complex inward rectifier potassium channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1) 11 all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175) Ibutilide(DB00308)|Quinidine(DB00908) CTCACACAGGTTACCTGCTAC 0.423000 22 68 0 0 1 0 0 C12orf42 374470 broad.mit.edu 37 12 103695916 103695916 + Silent SNP A A G TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:103695916A>G ENST00000548048.1 - 9 1348 c.852T>C c.(850-852)tcT>tcC p.S284S C12orf42_ENST00000548883.1_Silent_p.S351S|C12orf42_ENST00000315192.8_Intron|C12orf42_ENST00000378113.2_Silent_p.S351S Q96LP6 CL042_HUMAN chromosome 12 open reading frame 42 351 NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1) 22 CCACCGGCCTAGAAAGGGCCT 0.537000 80 18 0 0 1 0 0 NLRP10 338322 broad.mit.edu 37 11 7982492 7982492 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:7982492G>A ENST00000328600.2 - 2 828 c.667C>T c.(667-669)Ctt>Ttt p.L223F NM_176821.3 NP_789791.1 Q86W26 NAL10_HUMAN NLR family, pyrin domain containing 10 223 NACHT. ATP binding p.L223F(1) breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) CACCAGAAAAGGAGCTGCTCC 0.547000 20 28 0 0 1 0 0 TET1 80312 broad.mit.edu 37 10 70332448 70332448 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:70332448C>T ENST00000373644.4 + 2 562 c.353C>T c.(352-354)cCc>cTc p.P118L NM_030625.2 NP_085128.2 Q8NFU7 TET1_HUMAN tet methylcytosine dioxygenase 1 118 DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2) 21 CTCTCCCAACCCCCACTGGTC 0.458000 33 44 0 0 1 0 0 ZIM2 23619 broad.mit.edu 37 19 57286732 57286732 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:57286732C>T ENST00000391708.3 - 12 1450 c.908G>A c.(907-909)gGa>gAa p.G303E ZIM2_ENST00000593711.1_Missense_Mutation_p.G303E|ZIM2_ENST00000221722.5_Missense_Mutation_p.G303E|AC006115.3_ENST00000595954.1_RNA|ZIM2_ENST00000599935.1_Missense_Mutation_p.G303E|AC006115.3_ENST00000597946.1_RNA|AC006115.3_ENST00000594400.1_RNA|ZIM2_ENST00000601070.1_Missense_Mutation_p.G303E NM_001146326.1|NM_001146327.1 NP_001139798.1|NP_001139799.1 zinc finger, imprinted 2 NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0314) GGGATCCTTTCCTAGAGGATC 0.453000 26 37 0 0 1 0 0 HNF4A 3172 broad.mit.edu 37 20 43056986 43056986 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr20:43056986G>A ENST00000316099.3 + 9 1230 c.1141G>A c.(1141-1143)Gat>Aat p.D381N HNF4A_ENST00000415691.1_Missense_Mutation_p.D381N|HNF4A_ENST00000457232.1_Missense_Mutation_p.D359N NM_000457.4|NM_001258355.1 NP_000448.3|NP_001245284.1 P41235 HNF4A_HUMAN hepatocyte nuclear factor 4, alpha 381 blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process cytoplasm activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2) 34 Myeloproliferative disorder(115;0.0122) COAD - Colon adenocarcinoma(18;0.00189) GTCCCCCAGCGATGCACCCCA 0.592000 26 51 0 0 1 0 0 CDH11 1009 broad.mit.edu 37 16 65022213 65022213 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr16:65022213G>A ENST00000394156.3 - 7 1299 c.846C>T c.(844-846)gtC>gtT p.V282V CDH11_ENST00000268603.4_Silent_p.V282V|CDH11_ENST00000566827.1_Silent_p.V156V P55287 CAD11_HUMAN cadherin 11, type 2, OB-cadherin (osteoblast) 282 Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development integral to membrane|plasma membrane calcium ion binding|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2) 88 Ovarian(137;0.0973) OV - Ovarian serous cystadenocarcinoma(108;0.205) CCTCCCCAGGGACGGCTGCTT 0.398000 T USP6 aneurysmal bone cysts TSP Lung(24;0.17) 36 74 0 0 1 0 0 LHCGR 3973 broad.mit.edu 37 2 48915041 48915041 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:48915041C>T ENST00000294954.7 - 11 1916 c.1895G>A c.(1894-1896)aGa>aAa p.R632K LHCGR_ENST00000344775.3_Missense_Mutation_p.R570K|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000401907.1_3'UTR|LHCGR_ENST00000403273.1_3'UTR|LHCGR_ENST00000405626.1_Missense_Mutation_p.R605K NM_000233.3 NP_000224.2 P22888 LSHR_HUMAN luteinizing hormone/choriogonadotropin receptor 632 male genitalia development|male gonad development endosome|integral to plasma membrane luteinizing hormone receptor activity NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 56 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032) AAAGAAATCTCTTTGGAATGT 0.358000 46 70 0 0 1 0 0 PCDHGB2 56103 broad.mit.edu 37 5 140740139 140740139 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:140740139C>T ENST00000522605.1 + 1 437 c.437C>T c.(436-438)aCt>aTt p.T146I PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron NM_018923.2|NM_032096.1 NP_061746.1|NP_115267.1 endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 14 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGCGAATCCACTAAGCCAGGT 0.373000 30 37 0 0 1 0 0 JAKMIP2 9832 broad.mit.edu 37 5 147023718 147023718 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:147023718G>A ENST00000265272.5 - 7 1594 c.1127C>T c.(1126-1128)tCt>tTt p.S376F JAKMIP2_ENST00000507386.1_Missense_Mutation_p.S376F|JAKMIP2_ENST00000333010.6_Missense_Mutation_p.S334F NM_014790.3 NP_055605.2 Q96AA8 JKIP2_HUMAN janus kinase and microtubule interacting protein 2 376 Golgi apparatus p.S376Y(1) NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2) 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTCATTCAGAGATTTTAATTT 0.373000 25 45 0 0 1 0 0 PDS5B 23047 broad.mit.edu 37 13 33315221 33315221 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr13:33315221C>T ENST00000315596.10 + 22 2596 c.2410C>T c.(2410-2412)Cca>Tca p.P804S NM_015032.3 NP_055847.1 Q9NTI5 PDS5B_HUMAN PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae) 804 cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation chromatin|nucleus ATP binding|DNA binding|identical protein binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 62 Lung SC(185;0.0367) all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204) TTTTTAGCTTCCAGGGAAAAA 0.303000 24 50 0 0 1 0 0 PAN2 9924 broad.mit.edu 37 12 56721345 56721345 + Missense_Mutation SNP T T C TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:56721345T>C ENST00000425394.2 - 6 1098 c.722A>G c.(721-723)gAc>gGc p.D241G PAN2_ENST00000440411.3_Missense_Mutation_p.D241G|PAN2_ENST00000548043.1_Missense_Mutation_p.D241G|PAN2_ENST00000257931.5_Missense_Mutation_p.D241G NM_001127460.2 NP_001120932.1 Q504Q3 PAN2_HUMAN PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) 241 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process cytosol|nucleus nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 CACATCAAAGTCTGACAGACT 0.488000 25 46 0 0 1 0 0 TNPO2 30000 broad.mit.edu 37 19 12817449 12817449 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:12817449G>A ENST00000425528.1 - 14 1788 c.1431C>T c.(1429-1431)ccC>ccT p.P477P TNPO2_ENST00000592287.1_Silent_p.P477P|TNPO2_ENST00000356861.5_Silent_p.P477P|TNPO2_ENST00000441499.1_Silent_p.P477P|TNPO2_ENST00000588216.1_Silent_p.P477P|TNPO2_ENST00000450764.2_Silent_p.P477P O14787 TNPO2_HUMAN transportin 2 477 intracellular protein transport cytoplasm|nucleus nuclear localization sequence binding|protein binding|protein transporter activity autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 CTGTCATCAGGGGCTTGAGGT 0.632000 14 25 0 0 1 0 0 PRKG1 5592 broad.mit.edu 37 10 54032216 54032216 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:54032216G>A ENST00000373980.4 + 12 1795 c.1378G>A c.(1378-1380)Gag>Aag p.E460K PRKG1_ENST00000373975.2_Missense_Mutation_p.E163K|PRKG1-AS1_ENST00000452247.2_RNA|PRKG1_ENST00000401604.2_Missense_Mutation_p.E445K|PRKG1_ENST00000373985.1_Missense_Mutation_p.E433K|PRKG1-AS1_ENST00000426785.2_RNA NM_006258.3 NP_006249.1 Q13976 KGP1_HUMAN protein kinase, cGMP-dependent, type I 445 Protein kinase. actin cytoskeleton organization|platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 53 all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173) all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606) TCTAGGTGGAGAGCTCTGGAC 0.343000 26 45 0 0 1 0 0 FAM208B 54906 broad.mit.edu 37 10 5782359 5782359 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:5782359C>T ENST00000328090.5 + 13 2851 c.2226C>T c.(2224-2226)tcC>tcT p.S742S RP11-336A10.2_ENST00000411512.2_RNA NM_017782.4 NP_060252.4 Q5VWN6 CJ018_HUMAN family with sequence similarity 208, member B 742 GTGATGACTCCGTTAAGATCA 0.448000 34 45 0 0 1 0 0 MARCH4 57574 broad.mit.edu 37 2 217148396 217148396 + Silent SNP A A G TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:217148396A>G ENST00000273067.4 - 2 2339 c.573T>C c.(571-573)ccT>ccC p.P191P NM_020814.2 NP_065865.1 Q9P2E8 MARH4_HUMAN membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase 191 Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network ubiquitin-protein ligase activity|zinc ion binding breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1) 20 Renal(323;0.0854) Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125) TGATGAGGCAAGGCTGGTGTG 0.587000 23 8 0 0 1 0 0 CCDC33 80125 broad.mit.edu 37 15 74536395 74536395 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr15:74536395C>T ENST00000321288.5 + 4 700 c.700C>T c.(700-702)Ccc>Tcc p.P234S CCDC33_ENST00000398814.3_Missense_Mutation_p.P31S Q8N5R6 CCD33_HUMAN coiled-coil domain containing 33 234 C2. protein binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 TCACCTGTCTCCCTCTAAGAA 0.587000 42 47 0 0 1 0 0 APC 324 broad.mit.edu 37 5 112175429 112175429 + Missense_Mutation SNP A A C TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:112175429A>C ENST00000457016.1 + 16 4518 c.4138A>C c.(4138-4140)Acc>Ccc p.T1380P CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.T1380P|APC_ENST00000257430.4_Missense_Mutation_p.T1380P P25054 APC_HUMAN adenomatous polyposis coli 1380 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.L1382fs*4(2)|p.?(1)|p.Q1378fs*5(1)|p.T1380fs*6(1)|p.K1192fs*3(1)|p.T1380fs*5(1)|p.Y1376fs*41(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) TGTTCAGGAGACCCCACTCAT 0.468000 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) 24 59 0 0 1 0 0 ABCC1 4363 broad.mit.edu 37 16 16215871 16215871 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr16:16215871G>A ENST00000399408.2 + 25 3635 c.3460G>A c.(3460-3462)Gag>Aag p.E1154K ABCC1_ENST00000349029.5_Missense_Mutation_p.E1029K|ABCC1_ENST00000345148.5_Missense_Mutation_p.E1144K|ABCC1_ENST00000346370.5_Missense_Mutation_p.E1088K|ABCC1_ENST00000399410.3_Missense_Mutation_p.E1144K|ABCC1_ENST00000351154.5_Missense_Mutation_p.E1085K P33527 MRP1_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 1 1144 ABC transmembrane type-1 2. 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) GAAGCGCCTCGAGTCGGTCAG 0.617000 14 32 0 0 1 0 0 OR4A16 81327 broad.mit.edu 37 11 55110910 55110910 + Silent SNP A A G TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:55110910A>G ENST00000314721.2 + 1 284 c.234A>G c.(232-234)aaA>aaG p.K78K NM_001005274.1 NP_001005274.1 Q8NH70 O4A16_HUMAN olfactory receptor, family 4, subfamily A, member 16 78 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 TGTCACCCAAATTGATGATAG 0.453000 75 130 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577106 7577106 + Missense_Mutation SNP G G A rs17849781 TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:7577106G>A ENST00000420246.2 - 8 964 c.832C>T c.(832-834)Cct>Tct p.P278S TP53_ENST00000359597.4_Missense_Mutation_p.P278S|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.P278S|TP53_ENST00000455263.2_Missense_Mutation_p.P278S|TP53_ENST00000445888.2_Missense_Mutation_p.P278S NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 278 Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity). P -> A (in sporadic cancers; somatic mutation; dbSNP:rs17849781).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> T (in LFS; 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.P278S(55)|p.P278A(24)|p.P278T(23)|p.0?(8)|p.P278F(3)|p.P278fs*67(3)|p.?(2)|p.P278fs*28(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.C275fs*67(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.C277_P278insXXXXXXX(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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) TCTCTCCCAGGACAGGCACAA 0.552000 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 6 0 0 1 0 0 UNC5D 137970 broad.mit.edu 37 8 35453130 35453130 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:35453130G>A ENST00000287272.2 + 4 545 c.525G>A c.(523-525)atG>atA p.M175I UNC5D_ENST00000420357.1_Missense_Mutation_p.M175I|UNC5D_ENST00000404895.2_Missense_Mutation_p.M175I|UNC5D_ENST00000416672.1_Missense_Mutation_p.M175I|UNC5D_ENST00000453357.2_Missense_Mutation_p.M170I Q6UXZ4 UNC5D_HUMAN unc-5 homolog D (C. elegans) 175 Ig-like C2-type. apoptosis|axon guidance integral to membrane receptor activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2) 112 READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723) TTGAAGGCATGATTGTACTGC 0.517000 42 70 0 0 1 0 0 LRP5 4041 broad.mit.edu 37 11 68207319 68207319 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:68207319C>T ENST00000294304.7 + 21 4529 c.4423C>T c.(4423-4425)Cgg>Tgg p.R1475W NM_002335.2 NP_002326.2 O75197 LRP5_HUMAN low density lipoprotein receptor-related protein 5 1475 adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex protein binding|receptor activity autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 CCTCTACGACCGGAACCACGT 0.721000 5 5 0 0 1 0 0 OTOA 146183 broad.mit.edu 37 16 21698771 21698771 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr16:21698771G>A ENST00000388958.3 + 7 438 c.437G>A c.(436-438)cGa>cAa p.R146Q OTOA_ENST00000388956.4_Missense_Mutation_p.R67Q|OTOA_ENST00000286149.4_Missense_Mutation_p.R146Q NM_144672.3 NP_653273.3 Q7RTW8 OTOAN_HUMAN otoancorin 146 sensory perception of sound anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1) 46 GBM - Glioblastoma multiforme(48;0.0414) GGAGAGATTCGAGAACGAGCC 0.522000 44 80 0 0 1 0 0 UPF3B 65109 broad.mit.edu 37 X 118971739 118971739 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:118971739C>T ENST00000276201.2 - 10 1352 c.1283G>A c.(1282-1284)aGa>aAa p.R428K UPF3B_ENST00000345865.2_Missense_Mutation_p.R415K NM_080632.2 NP_542199.1 Q9BZI7 REN3B_HUMAN UPF3 regulator of nonsense transcripts homolog B (yeast) 428 Sufficient for association with EJC core. mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription cytosol|exon-exon junction complex|nucleoplasm mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1) 30 TATTCGATCTCTCTTGACCAC 0.378000 35 84 0 0 1 0 0 OR10G9 219870 broad.mit.edu 37 11 123894352 123894352 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:123894352C>T ENST00000375024.1 + 1 633 c.633C>T c.(631-633)ctC>ctT p.L211L NM_001001953.1 NP_001001953.1 Q8NGN4 O10G9_HUMAN olfactory receptor, family 10, subfamily G, member 9 211 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L211L(1) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1) 61 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399) GCTGCTTTCTCCTGATAGTGC 0.567000 41 66 0 0 1 0 0 PTBP1 5725 broad.mit.edu 37 19 803562 803562 + Splice_Site SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:803562G>A ENST00000356948.6 + 3 464 c.39_splice c.e3-1 p.R14_splice PTBP1_ENST00000394601.4_Splice_Site_p.R14_splice|PTBP1_ENST00000349038.4_Splice_Site_p.R14_splice|PTBP1_ENST00000350092.4_Intron NM_002819.4 NP_002810.1 P26599 PTBP1_HUMAN polypyrimidine tract binding protein 1 14 negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4) 19 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CTCTTGCAGCGGGGATCTGAC 0.632000 29 18 0 0 1 0 0 AVPR1B 553 broad.mit.edu 37 1 206224958 206224958 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:206224958C>T ENST00000367126.4 + 1 983 c.518C>T c.(517-519)tCc>tTc p.S173F NM_000707.3 NP_000698.1 P47901 V1BR_HUMAN arginine vasopressin receptor 1B 173 activation of phospholipase C activity|elevation of cytosolic calcium ion concentration endosome|integral to plasma membrane protein kinase C binding|vasopressin receptor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2) 20 BRCA - Breast invasive adenocarcinoma(75;0.0312) Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067) TTCATTTTTTCCCTGCGGGAG 0.652000 20 34 0 0 1 0 0 SEPT8 23176 broad.mit.edu 37 5 132098220 132098220 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:132098220G>A ENST00000296873.7 - 5 935 c.652C>T c.(652-654)Ccc>Tcc p.P218S SEPT8_ENST00000458488.2_Missense_Mutation_p.P218S|SEPT8_ENST00000448933.1_Missense_Mutation_p.P158S|SEPT8_ENST00000378699.2_Missense_Mutation_p.P158S|SEPT8_ENST00000378706.1_Missense_Mutation_p.P218S|SEPT8_ENST00000378701.1_Missense_Mutation_p.P216S|SEPT8_ENST00000378719.2_Missense_Mutation_p.P218S|SEPT8_ENST00000378721.4_Missense_Mutation_p.P216S NM_001098812.1|NM_015146.1 NP_001092282.1|NP_055961.1 Q92599 SEPT8_HUMAN septin 8 218 cell cycle septin complex GTP binding|protein binding SEPT8/AFF4(2) kidney(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1) 11 all_cancers(142;0.0751)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TCATCCGTGGGGAACTGGTAG 0.582000 17 44 0 0 1 0 0 JAG1 182 broad.mit.edu 37 20 10625548 10625548 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr20:10625548G>A ENST00000254958.5 - 18 2822 c.2307C>T c.(2305-2307)gtC>gtT p.V769V JAG1_ENST00000423891.2_Silent_p.V610V NM_000214.2 NP_000205.1 P78504 JAG1_HUMAN jagged 1 769 EGF-like 14. angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation extracellular region|integral to plasma membrane calcium ion binding|growth factor activity|Notch binding|structural molecule activity biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1) 44 CTTCCTTGCAGACGCACGTAA 0.592000 Alagille Syndrome 87 124 0 0 1 0 0 IRS4 8471 broad.mit.edu 37 X 107977792 107977792 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:107977792C>T ENST00000372129.2 - 1 1859 c.1783G>A c.(1783-1785)Gga>Aga p.G595R NM_003604.2 NP_003595.1 O14654 IRS4_HUMAN insulin receptor substrate 4 595 plasma membrane insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1) 78 TTCCCACTTCCTGAGCCTTTG 0.537000 107 195 0 0 1 0 0 BRSK1 84446 broad.mit.edu 37 19 55820079 55820079 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:55820079C>T ENST00000309383.1 + 18 2439 c.2162C>T c.(2161-2163)tCc>tTc p.S721F BRSK1_ENST00000326848.7_Missense_Mutation_p.S416F|BRSK1_ENST00000590333.1_Missense_Mutation_p.S737F NM_032430.1 NP_115806.1 Q8TDC3 BRSK1_HUMAN BR serine/threonine kinase 1 721 establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV cell junction|cytoplasm|nucleus magnesium ion binding|protein serine/threonine kinase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1) 48 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0474) GACCAGCCCTCCGTGCAGGCC 0.721000 9 15 0 0 1 0 0 IGF1R 3480 broad.mit.edu 37 15 99456351 99456351 + Silent SNP C C T rs45481994 TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr15:99456351C>T ENST00000268035.6 + 8 2279 c.1668C>T c.(1666-1668)ctC>ctT p.L556L IGF1R_ENST00000558762.1_Silent_p.L556L NM_000875.3 NP_000866.1 P08069 IGF1R_HUMAN insulin-like growth factor 1 receptor 556 Fibronectin type-III 1. anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization microsome ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163) Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277) ACGTGGACCTCCCGCCCAACA 0.547000 28 30 0 0 1 0 0 ZC3H7A 29066 broad.mit.edu 37 16 11845266 11845266 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr16:11845266C>T ENST00000396516.2 - 22 3020 c.2823G>A c.(2821-2823)aaG>aaA p.K941K ZC3H7A_ENST00000575984.1_Silent_p.K137K|ZC3H7A_ENST00000355758.4_Silent_p.K941K Q8IWR0 Z3H7A_HUMAN zinc finger CCCH-type containing 7A 941 nucleus nucleic acid binding|zinc ion binding breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2) 25 TGAGCTTCATCTTTAGGGCAT 0.363000 23 32 0 0 1 0 0 TBC1D25 4943 broad.mit.edu 37 X 48418193 48418193 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:48418193C>T ENST00000376771.4 + 6 1238 c.897C>T c.(895-897)caC>caT p.H299H TBC1D25_ENST00000481090.1_3'UTR|TBC1D25_ENST00000427713.1_3'UTR|TBC1D25_ENST00000537536.1_Silent_p.H45H NM_002536.2 NP_002527.1 Q3MII6 TBC25_HUMAN TBC1 domain family, member 25 299 Rab-GAP TBC. intracellular Rab GTPase activator activity large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 4 ACCGGGCCCACCCCTACTATG 0.637000 13 38 0 0 1 0 0 UBXN8 7993 broad.mit.edu 37 8 30620834 30620834 + RNA SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:30620834G>A ENST00000519246.1 + 0 814 O00124 UBXN8_HUMAN UBX domain protein 8 single fertilization central_nervous_system(1)|lung(2) 3 ATGTCCTGAGGAGAAGGTTTT 0.408000 11 30 0 0 1 0 0 PCDHGA2 56113 broad.mit.edu 37 5 140718947 140718947 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:140718947G>A ENST00000394576.2 + 1 409 c.409G>A c.(409-411)Gaa>Aaa p.E137K PCDHGA1_ENST00000517417.1_Intron NM_018915.2 NP_061738.1 breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGAGTAGAGGAACTGGAGCT 0.418000 30 49 0 0 1 0 0 TMEM168 64418 broad.mit.edu 37 7 112424024 112424024 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:112424024C>T ENST00000312814.5 - 2 1417 c.857G>A c.(856-858)aGa>aAa p.R286K TMEM168_ENST00000454074.1_Missense_Mutation_p.R286K NM_022484.4 NP_071929.3 Q9H0V1 TM168_HUMAN transmembrane protein 168 286 integral to membrane|transport vesicle breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1) 32 GTGAGTGTCTCTAAGTTTGAA 0.343000 85 172 0 0 1 0 0 OLFM3 118427 broad.mit.edu 37 1 102270264 102270264 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:102270264G>A ENST00000370103.4 - 6 1120 c.907C>T c.(907-909)Ctt>Ttt p.L303F OLFM3_ENST00000536598.1_3'UTR|OLFM3_ENST00000338858.5_Missense_Mutation_p.L323F|OLFM3_ENST00000462354.1_5'UTR NM_058170.2 NP_477518.2 Q96PB7 NOE3_HUMAN olfactomedin 3 323 Olfactomedin-like. extracellular region breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2) 43 all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189) all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145) CGTTGGGCAAGCACTCTCCCC 0.438000 19 33 0 0 1 0 0 SMARCA4 6597 broad.mit.edu 37 19 11152077 11152077 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:11152077C>T ENST00000358026.2 + 31 4645 c.4361C>T c.(4360-4362)tCc>tTc p.S1454F SMARCA4_ENST00000541122.2_Missense_Mutation_p.S1392F|SMARCA4_ENST00000413806.3_Missense_Mutation_p.S1392F|SMARCA4_ENST00000589677.1_Missense_Mutation_p.S1392F|SMARCA4_ENST00000444061.3_Missense_Mutation_p.S1389F|SMARCA4_ENST00000450717.3_Missense_Mutation_p.S1392F|SMARCA4_ENST00000429416.3_Missense_Mutation_p.S1422F|SMARCA4_ENST00000590574.1_Missense_Mutation_p.S1389F|SMARCA4_ENST00000344626.4_Missense_Mutation_p.S1422F NM_001128849.1 NP_001122321.1 P51532 SMCA4_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 1422 chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 163 all_lung(6;0.0512)|Lung NSC(9;0.0568) GCCGGCTCCTCCACCCCGACC 0.647000 """F, N, Mis""" NSCLC 19 11 0 0 1 0 0 ANGPTL5 253935 broad.mit.edu 37 11 101776514 101776514 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:101776514C>T ENST00000334289.3 - 4 901 c.306G>A c.(304-306)atG>atA p.M102I NM_178127.4 NP_835228.2 Q86XS5 ANGL5_HUMAN angiopoietin-like 5 102 signal transduction extracellular space receptor binding breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3) 29 Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043) BRCA - Breast invasive adenocarcinoma(274;0.0328) GTTGCTCATCCATCATATTCC 0.303000 12 17 0 0 1 0 0 ANKRD33 341405 broad.mit.edu 37 12 52283227 52283227 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:52283227G>A ENST00000301190.6 + 4 825 c.598G>A c.(598-600)Ggg>Agg p.G200R ANKRD33_ENST00000547119.1_3'UTR|ANKRD33_ENST00000538991.1_5'UTR|ANKRD33_ENST00000340970.4_Missense_Mutation_p.G65R NM_001130015.1|NM_182608.3 NP_001123487.1|NP_872414.3 Q7Z3H0 ANR33_HUMAN ankyrin repeat domain 33 65 endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1) 22 BRCA - Breast invasive adenocarcinoma(357;0.0969) GGACCAGCGGGGGCTCACGGC 0.657000 25 37 0 0 1 0 0 KNSTRN 90417 broad.mit.edu 37 15 40675132 40675132 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr15:40675132G>A ENST00000416151.2 + 1 211 c.96G>A c.(94-96)cgG>cgA p.R32R KNSTRN_ENST00000448395.2_Silent_p.R32R|KNSTRN_ENST00000249776.8_Silent_p.R32R NM_001142761.1 NP_001136233.1 kinetochore-localized astrin/SPAG5 binding protein CTAGCTACCGGAAGTTTCTAT 0.577000 34 38 0 0 1 0 0 GGN 199720 broad.mit.edu 37 19 38876799 38876799 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:38876799C>T ENST00000334928.6 - 3 1235 c.1103G>A c.(1102-1104)gGg>gAg p.G368E AC005789.9_ENST00000585411.1_RNA|GGN_ENST00000591809.1_Intron NM_152657.3 NP_689870.3 Q86UU5 GGN_HUMAN gametogenetin 368 Interaction with GGNBP1 (By similarity).|Pro-rich. cell differentiation|multicellular organismal development|spermatogenesis breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 24 all_cancers(60;3.4e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) TCCGCCAGCCCCGTTGAAGCG 0.697000 3 9 0 0 1 0 0 GRIK1 2897 broad.mit.edu 37 21 31015183 31015183 + Nonsense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr21:31015183C>T ENST00000399914.1 - 7 1582 c.1061G>A c.(1060-1062)tGg>tAg p.W354* GRIK1_ENST00000389125.3_Nonsense_Mutation_p.W354*|GRIK1_ENST00000309434.7_Nonsense_Mutation_p.W354*|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000399909.1_Nonsense_Mutation_p.W354*|GRIK1_ENST00000399913.1_Nonsense_Mutation_p.W354*|GRIK1_ENST00000535441.1_Nonsense_Mutation_p.W354*|GRIK1_ENST00000399907.1_Nonsense_Mutation_p.W354*|GRIK1_ENST00000327783.4_Nonsense_Mutation_p.W354*|GRIK1_ENST00000389124.2_Nonsense_Mutation_p.W354* P39086 GRIK1_HUMAN glutamate receptor, ionotropic, kainate 1 354 central nervous system development|synaptic transmission cell junction|postsynaptic membrane kainate selective glutamate receptor activity NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1) 45 L-Glutamic Acid(DB00142)|Topiramate(DB00273) TCCGAGGCGCCATGGCTTATG 0.582000 30 14 0 0 1 0 0 RBM5 10181 broad.mit.edu 37 3 50131164 50131164 + Missense_Mutation SNP A A T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:50131164A>T ENST00000347869.3 + 4 370 c.195A>T c.(193-195)gaA>gaT p.E65D RBM5_ENST00000469838.1_Missense_Mutation_p.E65D NM_005778.3 NP_005769.1 P52756 RBM5_HUMAN RNA binding motif protein 5 65 apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly nucleoplasm|spliceosomal complex DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2) 19 BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) GAGAGCGTGAAAGAAGGAACA 0.443000 44 88 0 0 1 0 0 ZSCAN21 7589 broad.mit.edu 37 7 99654655 99654655 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:99654655C>T ENST00000292450.4 + 2 190 c.26C>T c.(25-27)gCc>gTc p.A9V ZSCAN21_ENST00000456748.2_Missense_Mutation_p.A9V|ZSCAN21_ENST00000543588.1_Missense_Mutation_p.A9V|ZSCAN21_ENST00000477297.1_3'UTR NM_145914.2 NP_666019.1 Q9Y5A6 ZSC21_HUMAN zinc finger and SCAN domain containing 21 9 positive regulation of transcription, DNA-dependent|viral reproduction nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1) 21 Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439) STAD - Stomach adenocarcinoma(171;0.129) CTAGGCATGGCCCCAGTTCTG 0.527000 72 171 0 0 1 0 0 SEC24C 9632 broad.mit.edu 37 10 75530092 75530092 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:75530092G>A ENST00000339365.2 + 22 3079 c.2917G>A c.(2917-2919)Gag>Aag p.E973K SEC24C_ENST00000540668.1_Missense_Mutation_p.E221K|SEC24C_ENST00000535742.1_Missense_Mutation_p.E221K|SEC24C_ENST00000496827.1_3'UTR|SEC24C_ENST00000411652.2_Missense_Mutation_p.E854K|SEC24C_ENST00000345254.4_Missense_Mutation_p.E973K NM_004922.3 NP_004913.2 P53992 SC24C_HUMAN SEC24 family member C 973 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm protein binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 32 Prostate(51;0.0112) AGCCTCTGAAGAGCGTCTAAG 0.493000 118 152 0 0 1 0 0 ZNF671 79891 broad.mit.edu 37 19 58232399 58232399 + Missense_Mutation SNP T T C TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:58232399T>C ENST00000317398.6 - 4 1150 c.1055A>G c.(1054-1056)cAa>cGa p.Q352R ZNF671_ENST00000335820.3_Missense_Mutation_p.Q254R|AC003006.7_ENST00000599221.1_Intron NM_024833.2 NP_079109.2 Q8TAW3 ZN671_HUMAN zinc finger protein 671 352 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) GCCGGAGATTTGTCTAAAGAA 0.443000 25 43 0 0 1 0 0 OR51A7 119687 broad.mit.edu 37 11 4928829 4928829 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:4928829C>T ENST00000359350.4 + 1 230 c.230C>T c.(229-231)tCc>tTc p.S77F MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron NM_001004749.1 NP_001004749.1 Q8NH64 O51A7_HUMAN olfactory receptor, family 51, subfamily A, member 7 77 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S77Y(1) breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) TCCCTCTCCTCCCTTCCTACC 0.453000 41 58 0 0 1 0 0 CDC34 997 broad.mit.edu 37 19 536323 536323 + Missense_Mutation SNP C C A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:536323C>A ENST00000215574.4 + 3 563 c.345C>A c.(343-345)aaC>aaA p.N115K NM_004359.1 NP_004350.1 P49427 UB2R1_HUMAN cell division cycle 34 115 DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|negative regulation of cAMP-mediated signaling|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination cytoplasm|nucleus ATP binding|protein binding|ubiquitin-protein ligase activity large_intestine(1)|lung(1) 2 all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AGAGGTGGAACCCCACGCAGA 0.642000 7 4 2.17888e-05 2.18805e-05 1 1 0 CLTC 1213 broad.mit.edu 37 17 57760370 57760370 + Missense_Mutation SNP T T G TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:57760370T>G ENST00000269122.3 + 24 4142 c.3868T>G c.(3868-3870)Tat>Gat p.Y1290D CLTC_ENST00000393043.1_Missense_Mutation_p.Y1290D|CLTC_ENST00000579456.1_Missense_Mutation_p.Y227D NM_004859.3 NP_004850.1 Q00610 CLH1_HUMAN clathrin, heavy chain (Hc) 1290 Heavy chain arm.|Involved in binding clathrin light chain (By similarity).|Proximal segment. axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle protein binding|structural molecule activity CLTC/ALK(44)|CLTC/TFE3(2) breast(2)|large_intestine(6)|ovary(1) 9 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) TATCAACTACTATCAGGTATT 0.368000 T """ALK, TFE3""" """ALCL, renal """ 33 45 0 0 1 0 0 TEX2 55852 broad.mit.edu 37 17 62232279 62232279 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:62232279G>A ENST00000258991.3 - 9 2958 c.2874C>T c.(2872-2874)tcC>tcT p.S958S TEX2_ENST00000584379.1_Silent_p.S951S|TEX2_ENST00000583097.1_Silent_p.S951S|TEX2_ENST00000581812.1_5'UTR Q8IWB9 TEX2_HUMAN testis expressed 2 951 signal transduction|sphingolipid metabolic process integral to membrane breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(8;1.33e-10) READ - Rectum adenocarcinoma(1115;0.0689) AGCCAGCGCTGGAGGATTCCT 0.627000 24 36 0 0 1 0 0 TGM3 7053 broad.mit.edu 37 20 2308919 2308919 + Missense_Mutation SNP T T A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr20:2308919T>A ENST00000381458.5 + 9 1304 c.1241T>A c.(1240-1242)gTg>gAg p.V414E NM_003245.3 NP_003236.3 Q08188 TGM3_HUMAN transglutaminase 3 414 cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization cytoplasm|extrinsic to internal side of plasma membrane acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 39 L-Glutamine(DB00130) AAGAATTCCGTGAACAGTCAC 0.542000 34 38 0 0 1 0 0 BCL2L14 79370 broad.mit.edu 37 12 12232649 12232649 + Missense_Mutation SNP T T C TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:12232649T>C ENST00000266434.4 + 2 605 c.410T>C c.(409-411)gTg>gCg p.V137A BCL2L14_ENST00000586576.1_Missense_Mutation_p.V170A|BCL2L14_ENST00000308721.5_Missense_Mutation_p.V137A|BCL2L14_ENST00000396369.1_Missense_Mutation_p.V137A|BCL2L14_ENST00000589718.1_Missense_Mutation_p.V137A|BCL2L14_ENST00000396367.1_Missense_Mutation_p.V137A NM_030766.1 NP_110393.1 Q9BZR8 B2L14_HUMAN BCL2-like 14 (apoptosis facilitator) 137 apoptosis|regulation of apoptosis cytosol|endomembrane system|intracellular organelle|membrane protein binding large_intestine(1)|lung(2)|skin(3) 6 Prostate(47;0.0872) BRCA - Breast invasive adenocarcinoma(232;0.154) CTTTCTAACGTGGAGCAGTGC 0.522000 45 85 0 0 1 0 0 DUSP27 92235 broad.mit.edu 37 1 167095284 167095284 + Missense_Mutation SNP G G A rs139690458 TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:167095284G>A ENST00000361200.2 + 6 1082 c.916G>A c.(916-918)Ggg>Agg p.G306R DUSP27_ENST00000485151.1_3'UTR|DUSP27_ENST00000271385.5_Missense_Mutation_p.G306R|DUSP27_ENST00000443333.1_Missense_Mutation_p.G306R Q5VZP5 DUS27_HUMAN dual specificity phosphatase 27 (putative) 306 protein dephosphorylation protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3) 89 GAGCATGCTCGGGGCCAGAGT 0.657000 6 14 0 0 1 0 0 NCKAP5 344148 broad.mit.edu 37 2 133486462 133486462 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:133486462C>T ENST00000409261.1 - 18 5880 c.5507G>A c.(5506-5508)gGa>gAa p.G1836E NCKAP5_ENST00000409213.1_Missense_Mutation_p.G517E|NCKAP5_ENST00000405974.3_Missense_Mutation_p.G517E|NCKAP5_ENST00000317721.6_Missense_Mutation_p.G1836E NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 1836 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 TTCAGCATATCCGAATGATGA 0.542000 89 137 0 0 1 0 0 CDH4 1002 broad.mit.edu 37 20 60498648 60498648 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr20:60498648C>T ENST00000360469.5 + 10 1602 c.1514C>T c.(1513-1515)cCc>cTc p.P505L CDH4_ENST00000543233.1_Missense_Mutation_p.P431L NM_001794.3 NP_001785.2 P55283 CADH4_HUMAN cadherin 4, type 1, R-cadherin (retinal) 505 Cadherin 3. adherens junction organization|cell junction assembly calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 74 BRCA - Breast invasive adenocarcinoma(19;2.36e-08) AACGAGGCTCCCTACTTCCCC 0.622000 8 24 0 0 1 0 0 NRXN1 9378 broad.mit.edu 37 2 51255103 51255103 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:51255103G>A ENST00000404971.1 - 2 1648 c.309C>T c.(307-309)ctC>ctT p.L103L NRXN1_ENST00000405472.3_Silent_p.L103L|NRXN1_ENST00000401669.2_Silent_p.L103L|NRXN1_ENST00000405581.1_Silent_p.L103L|NRXN1_ENST00000402717.3_Silent_p.L103L|NRXN1_ENST00000406859.3_Silent_p.L103L|NRXN1_ENST00000406316.2_Silent_p.L103L NM_001135659.1 NP_001129131.1 Q9ULB1 NRX1A_HUMAN neurexin 1 103 Laminin G-like 1. adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition cell surface|integral to plasma membrane metal ion binding|protein binding|receptor activity breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 58 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) TGTCGGCCAGGAGCGTCGCAG 0.662000 11 17 0 0 1 0 0 ZNF569 148266 broad.mit.edu 37 19 37904541 37904541 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:37904541G>A ENST00000316950.6 - 6 1576 c.1019C>T c.(1018-1020)tCc>tTc p.S340F ZNF569_ENST00000392149.2_Missense_Mutation_p.S340F|ZNF569_ENST00000392150.2_Missense_Mutation_p.S181F NM_152484.2 NP_689697.2 Q5MCW4 ZN569_HUMAN zinc finger protein 569 340 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) AAGAGCAAGGGATGCAATTCG 0.388000 44 84 0 0 1 0 0 CDH10 1008 broad.mit.edu 37 5 24488040 24488040 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:24488040C>T ENST00000264463.4 - 12 2606 c.2099G>A c.(2098-2100)aGg>aAg p.R700K CDH10_ENST00000502921.1_5'UTR NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 700 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) TGTAGGAGTCCTCCGAGGAAT 0.493000 HNSCC(23;0.051) 33 43 0 0 1 0 0 OR56B4 196335 broad.mit.edu 37 11 6129110 6129110 + Silent SNP C C T rs142825875 TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:6129110C>T ENST00000316529.3 + 1 197 c.102C>T c.(100-102)tcC>tcT p.S34S NM_001005181.1 NP_001005181.1 Q8NH76 O56B4_HUMAN olfactory receptor, family 56, subfamily B, member 4 34 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2) 21 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) ACTGGCTCTCCCTGCCCCTGA 0.502000 22 35 0 0 1 0 0 CCDC105 126402 broad.mit.edu 37 19 15124552 15124552 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:15124552G>A ENST00000292574.3 + 2 721 c.639G>A c.(637-639)atG>atA p.M213I NM_173482.2 NP_775753.2 Q8IYK2 CC105_HUMAN coiled-coil domain containing 105 213 microtubule cytoskeleton organization microtubule NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2) 23 AGAGGAAAATGGAGAGAGATA 0.498000 8 20 0 0 1 0 0 CYFIP1 23191 broad.mit.edu 37 15 22990141 22990141 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr15:22990141C>T ENST00000313077.7 + 24 2886 c.2761C>T c.(2761-2763)Ctc>Ttc p.L921F CYFIP1_ENST00000560848.1_Missense_Mutation_p.L921F|CYFIP1_ENST00000435939.2_Missense_Mutation_p.L490F NM_014608.2 NP_055423.1 Q7L576 CYFP1_HUMAN cytoplasmic FMR1 interacting protein 1 921 axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome actin filament binding|Rac GTPase binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 40 all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488) all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101) CTGCCGGCTTCTCGGCTACCA 0.557000 31 35 0 0 1 0 0 TONSL 4796 broad.mit.edu 37 8 145661199 145661199 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:145661199G>A ENST00000409379.3 - 17 2646 c.2617C>T c.(2617-2619)Cgt>Tgt p.R873C AC084125.4_ENST00000544423.1_RNA NM_013432.4 NP_038460.4 Q96HA7 TONSL_HUMAN tonsoku-like, DNA repair protein 873 cytoplasmic sequestering of transcription factor|double-strand break repair via homologous recombination|replication fork processing cytoplasm|nuclear replication fork histone binding|transcription corepressor activity biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1) 26 GCTCGGGCACGGGGCCTGCTC 0.697000 47 84 0 0 1 0 0 ZNF544 27300 broad.mit.edu 37 19 58758137 58758137 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:58758137G>A ENST00000269829.4 + 6 695 c.221G>A c.(220-222)aGg>aAg p.R74K ZNF544_ENST00000596597.1_3'UTR|CTD-3138B18.4_ENST00000600029.1_3'UTR|ZNF544_ENST00000596929.1_Missense_Mutation_p.R74K|ZNF544_ENST00000596825.1_Silent_p.Q62Q|ZNF544_ENST00000333581.5_Missense_Mutation_p.R74K|ZNF544_ENST00000599227.1_Silent_p.Q62Q|ZNF544_ENST00000600044.1_Intron|ZNF544_ENST00000595981.1_Missense_Mutation_p.R74K|ZNF544_ENST00000594384.1_Silent_p.Q62Q|ZNF544_ENST00000596652.1_Missense_Mutation_p.R74K|ZNF544_ENST00000415203.2_Intron|ZNF544_ENST00000600220.1_Intron|ZNF544_ENST00000599953.1_5'UTR NM_014480.2 NP_055295.2 Q6NX49 ZN544_HUMAN zinc finger protein 544 74 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1) 18 all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018) GACCTGTGCAGGGCAGAGCAG 0.567000 25 56 0 0 1 0 0 HELZ2 85441 broad.mit.edu 37 20 62193940 62193940 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr20:62193940G>A ENST00000467148.1 - 8 6304 c.6235C>T c.(6235-6237)Ccg>Tcg p.P2079S HELZ2_ENST00000427522.2_Missense_Mutation_p.P1510S NM_001037335.2 NP_001032412.2 helicase with zinc finger 2, transcriptional coactivator ACCTCTTCCGGAACCTTCTCC 0.662000 5 9 0 0 1 0 0 TSG101 7251 broad.mit.edu 37 11 18505527 18505527 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:18505527C>T ENST00000536719.1 - 8 867 c.733G>A c.(733-735)Gaa>Aaa p.E245K TSG101_ENST00000357193.3_Missense_Mutation_p.E140K|TSG101_ENST00000251968.3_Missense_Mutation_p.E245K Q99816 TS101_HUMAN tumor susceptibility 101 245 cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane calcium-dependent protein binding|DNA binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 22 CGATCCATTTCCTCCTTCATC 0.522000 79 204 0 0 1 0 0 LAMB3 3914 broad.mit.edu 37 1 209791282 209791282 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:209791282G>A ENST00000391911.1 - 19 3410 c.3021C>T c.(3019-3021)tcC>tcT p.S1007S LAMB3_ENST00000356082.4_Silent_p.S1007S|LAMB3_ENST00000367030.3_Silent_p.S1007S NM_001017402.1 NP_001017402.1 Q13751 LAMB3_HUMAN laminin, beta 3 1007 Domain I. cell adhesion|epidermis development|hemidesmosome assembly structural molecule activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 OV - Ovarian serous cystadenocarcinoma(81;0.0519) TAAGCCGAAGGGAGCGGCTGG 0.567000 19 53 0 0 1 0 0 TECPR1 25851 broad.mit.edu 37 7 97861194 97861194 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:97861194G>A ENST00000447648.2 - 13 2195 c.1896C>T c.(1894-1896)gcC>gcT p.A632A TECPR1_ENST00000379795.3_Silent_p.A633A|TECPR1_ENST00000542604.1_Silent_p.A562A Q7Z6L1 TCPR1_HUMAN tectonin beta-propeller repeat containing 1 632 PH. integral to membrane protein binding central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 ACTGCTCCAGGGCCAAGCGCA 0.662000 27 40 0 0 1 0 0 ZNF334 55713 broad.mit.edu 37 20 45130155 45130155 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr20:45130155G>A ENST00000457685.2 - 6 3032 c.1709C>T c.(1708-1710)tCc>tTc p.S570F ZNF334_ENST00000593880.1_Missense_Mutation_p.S631F|ZNF334_ENST00000347606.4_Missense_Mutation_p.S608F Q9HCZ1 ZN334_HUMAN zinc finger protein 334 608 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0122) ATGGCAGAAGGATTTCCCACA 0.428000 41 75 0 0 1 0 0 OXA1L 5018 broad.mit.edu 37 14 23235899 23235899 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr14:23235899C>T ENST00000285848.5 + 1 169 c.169C>T c.(169-171)Ctt>Ttt p.L57F OXA1L_ENST00000604262.1_5'UTR NM_005015.3 NP_005006.3 Q15070 OXA1L_HUMAN oxidase (cytochrome c) assembly 1-like 0 aerobic respiration|mitochondrial proton-transporting ATP synthase complex assembly|mitochondrial respiratory chain complex I assembly|negative regulation of ATPase activity|negative regulation of oxidoreductase activity|protein insertion into membrane|protein tetramerization integral to mitochondrial membrane|mitochondrial respiratory chain|protein complex protein homodimerization activity|ribosome binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2) 19 all_cancers(95;8.44e-05) GBM - Glioblastoma multiforme(265;0.0096) AGCAAGTCCTCTTCCGGGCAA 0.607000 60 100 0 0 1 0 0 GRM2 2912 broad.mit.edu 37 3 51749464 51749464 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:51749464G>A ENST00000395052.3 + 4 1909 c.1675G>A c.(1675-1677)Gag>Aag p.E559K GRM2_ENST00000475478.1_3'UTR|GRM2_ENST00000442933.2_Intron NM_000839.3 NP_000830.2 Q14416 GRM2_HUMAN glutamate receptor, metabotropic 2 559 synaptic transmission integral to plasma membrane breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Acamprosate(DB00659)|Nicotine(DB00184) ACTGCCCCAGGAGTACATCCG 0.622000 30 40 0 0 1 0 0 NYNRIN 57523 broad.mit.edu 37 14 24884423 24884423 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr14:24884423C>T ENST00000382554.3 + 9 3786 c.3468C>T c.(3466-3468)tcC>tcT p.S1156S NM_025081.2 NP_079357.2 Q9P2P1 NYNRI_HUMAN NYN domain and retroviral integrase containing 1156 DNA integration integral to membrane DNA binding breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 56 CCCCCAACTCCCAGCTGCCCT 0.647000 23 50 0 0 1 0 0 KRT38 8687 broad.mit.edu 37 17 39596463 39596463 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:39596463C>T ENST00000246646.3 - 2 524 c.525G>A c.(523-525)ctG>ctA p.L175L NM_006771.3 NP_006762.3 O76015 KRT38_HUMAN keratin 38 175 Coil 1B.|Rod. intermediate filament structural molecule activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 29 Breast(137;0.000496) TTTGTACAATCAGCCTGGCAT 0.547000 15 22 0 0 1 0 0 LIMS2 55679 broad.mit.edu 37 2 128415076 128415076 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:128415076G>A ENST00000409455.1 - 2 692 c.57C>T c.(55-57)ccC>ccT p.P19P LIMS2_ENST00000409808.2_Silent_p.P19P|LIMS2_ENST00000355119.4_Silent_p.P24P|LIMS2_ENST00000545738.2_Silent_p.P46P|LIMS2_ENST00000324938.5_Silent_p.P48P|LIMS2_ENST00000410011.1_Silent_p.P19P Q7Z4I7 LIMS2_HUMAN LIM and senescent cell antigen-like domains 2 24 LIM zinc-binding 1. cell junction assembly cytosol|focal adhesion|nucleus zinc ion binding endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0681) TGCGCTCGGCGGGGGAGAAGC 0.637000 53 62 0 0 1 0 0 GPR157 80045 broad.mit.edu 37 1 9188805 9188805 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:9188805G>A ENST00000377411.4 - 1 424 c.282C>T c.(280-282)ttC>ttT p.F94F GPR157_ENST00000414642.2_Silent_p.F94F NM_024980.4 NP_079256.4 Q5UAW9 GP157_HUMAN G protein-coupled receptor 157 94 integral to membrane|plasma membrane G-protein coupled receptor activity lung(4)|prostate(1) 5 all_lung(157;0.185) all_epithelial(116;5.02e-20)|all_lung(118;3.6e-06)|Lung NSC(185;7.93e-06)|Renal(390;0.000147)|Breast(348;0.000688)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.16e-07)|COAD - Colon adenocarcinoma(227;7.73e-05)|Kidney(185;0.000252)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.00178)|BRCA - Breast invasive adenocarcinoma(304;0.00186)|READ - Rectum adenocarcinoma(331;0.0642) CGGTCCAGAAGAAGGAGCTGG 0.652000 10 11 0 0 1 0 0 ZC3HC1 51530 broad.mit.edu 37 7 129691187 129691187 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:129691187C>T ENST00000358303.4 - 1 104 c.20G>A c.(19-21)gGa>gAa p.G7E ZC3HC1_ENST00000311873.5_5'UTR|ZC3HC1_ENST00000360708.5_Missense_Mutation_p.G7E|ZC3HC1_ENST00000481503.1_Missense_Mutation_p.G7E NM_016478.3 NP_057562.3 Q86WB0 NIPA_HUMAN zinc finger, C3HC-type containing 1 7 cell division|mitosis nucleus protein kinase binding|zinc ion binding endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1) 22 Melanoma(18;0.0435) AAACGCTTGTCCCTCACAGGG 0.577000 24 61 0 0 1 0 0 AP3B2 8120 broad.mit.edu 37 15 83334306 83334306 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr15:83334306C>T ENST00000261722.3 - 16 2081 c.1874G>A c.(1873-1875)gGc>gAc p.G625D AP3B2_ENST00000535359.1_Missense_Mutation_p.G625D|RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535348.1_Missense_Mutation_p.G593D NM_004644.3 NP_004635.2 Q13367 AP3B2_HUMAN adaptor-related protein complex 3, beta 2 subunit 625 endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat binding|protein transporter activity breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2) 41 BRCA - Breast invasive adenocarcinoma(143;0.229) GGACAGTGAGCCCAGCTGGAA 0.612000 34 51 0 0 1 0 0 ALLC 55821 broad.mit.edu 37 2 3730584 3730584 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:3730584G>A ENST00000252505.3 + 7 593 c.431G>A c.(430-432)gGa>gAa p.G144E NM_018436.3 NP_060906.3 Q8N6M5 ALLC_HUMAN allantoicase 163 allantoicase activity breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 30 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088) all_cancers(51;0.24) OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206) CTTAAGCCAGGAAACCCTGCT 0.413000 HNSCC(21;0.051) 74 111 0 0 1 0 0 GPRASP2 114928 broad.mit.edu 37 X 101971499 101971499 + Nonsense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:101971499C>T ENST00000543253.1 + 5 2621 c.1702C>T c.(1702-1704)Cga>Tga p.R568* GPRASP2_ENST00000535209.1_Nonsense_Mutation_p.R568*|GPRASP2_ENST00000332262.5_Nonsense_Mutation_p.R568* NM_001004051.3|NM_001184874.2|NM_001184876.2 NP_001004051.1|NP_001171803.1|NP_001171805.1 G protein-coupled receptor associated sorting protein 2 p.R568*(1) breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 30 CCGGGAAATTCGAGAGCATCT 0.483000 65 93 0 0 1 0 0 PPEF2 5470 broad.mit.edu 37 4 76797634 76797634 + Missense_Mutation SNP G G A rs138339033 TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr4:76797634G>A ENST00000286719.7 - 11 1482 c.1126C>T c.(1126-1128)Ccc>Tcc p.P376S NM_006239.2 NP_006230.2 O14830 PPE2_HUMAN protein phosphatase, EF-hand calcium binding domain 2 376 Catalytic. detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception cytoplasm|photoreceptor inner segment|photoreceptor outer segment calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) CCGCTGCAGGGGATGCTGGAG 0.657000 11 16 0 0 1 0 0 UNC79 57578 broad.mit.edu 37 14 94103625 94103625 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr14:94103625G>A ENST00000553484.1 + 34 6117 c.5963G>A c.(5962-5964)gGa>gAa p.G1988E UNC79_ENST00000256339.4_Missense_Mutation_p.G1789E|UNC79_ENST00000555664.1_Missense_Mutation_p.G1927E|UNC79_ENST00000393151.2_Missense_Mutation_p.G1966E Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 1966 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 gacctggagggacagccattg 0.502000 23 41 0 0 1 0 0 MYO15A 51168 broad.mit.edu 37 17 18069767 18069767 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:18069767C>T ENST00000205890.5 + 61 10218 c.9880C>T c.(9880-9882)Cgg>Tgg p.R3294W MYO15A_ENST00000418233.3_Missense_Mutation_p.R558W|MYO15A_ENST00000451725.2_Intron NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 3294 FERM.|Tail. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) GCTCTGGTTCCGGCGTGTGCT 0.577000 60 75 0 0 1 0 0 LVRN 206338 broad.mit.edu 37 5 115350198 115350198 + Silent SNP A A G TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:115350198A>G ENST00000357872.4 + 16 2548 c.2424A>G c.(2422-2424)gcA>gcG p.A808A AQPEP_ENST00000515454.1_3'UTR NM_173800.4 NP_776161.3 Q6Q4G3 AMPQ_HUMAN 808 proteolysis integral to membrane metallopeptidase activity|zinc ion binding AACTTTTCGCAAAATGGGTGG 0.368000 22 36 0 0 1 0 0 MTMR3 8897 broad.mit.edu 37 22 30416043 30416043 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr22:30416043G>A ENST00000333027.3 + 17 2723 c.2395G>A c.(2395-2397)Gaa>Aaa p.E799K MTMR3_ENST00000401950.2_Missense_Mutation_p.E799K|MTMR3_ENST00000351488.3_Missense_Mutation_p.E799K|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000406629.1_Missense_Mutation_p.E799K|MTMR3_ENST00000323630.5_Missense_Mutation_p.E663K NM_153050.2|NM_153051.2 NP_694690.1|NP_694691.1 Q13615 MTMR3_HUMAN myotubularin related protein 3 799 phosphatidylinositol dephosphorylation cytoplasm|membrane|membrane fraction|nucleus metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1) 17 OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107) GTTTCGAATAGAAGAGATTGC 0.527000 36 41 0 0 1 0 0 OR6X1 390260 broad.mit.edu 37 11 123624347 123624347 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:123624347C>T ENST00000327930.2 - 1 906 c.880G>A c.(880-882)Gag>Aag p.E294K NM_001005188.1 NP_001005188.1 Q8NH79 OR6X1_HUMAN olfactory receptor, family 6, subfamily X, member 1 294 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2) 23 Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) CCCTTCACCTCCTTGTTTCTA 0.403000 45 54 0 0 1 0 0 IGHV4-59 28392 broad.mit.edu 37 14 107083436 107083436 + RNA SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr14:107083436G>A ENST00000455737.1 - 0 207 GGGGCTGCCGGATCCAGCTCC 0.572000 43 60 0 0 1 0 0 MUM1 84939 broad.mit.edu 37 19 1360624 1360624 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:1360624C>T ENST00000311401.5 + 5 886 c.500C>T c.(499-501)tCa>tTa p.S167L MUM1_ENST00000344663.3_Missense_Mutation_p.S236L|MUM1_ENST00000591806.1_Missense_Mutation_p.S236L|MUM1_ENST00000415183.3_Missense_Mutation_p.S236L Q2TAK8 MUM1_HUMAN melanoma associated antigen (mutated) 1 235 chromatin organization|DNA repair nucleus nucleosome binding|protein binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TCTTCCCTTTCAGAGGACGAC 0.577000 34 19 0 0 1 0 0 HDAC2 3066 broad.mit.edu 37 6 114267235 114267235 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr6:114267235G>A ENST00000519065.1 - 9 1295 c.919C>T c.(919-921)Cgt>Tgt p.R307C HDAC2_ENST00000398283.2_Missense_Mutation_p.R401C|HDAC2_ENST00000519108.1_Missense_Mutation_p.R277C|HDAC2_ENST00000368632.2_Missense_Mutation_p.R277C Q92769 HDAC2_HUMAN histone deacetylase 2 307 Histone deacetylase. blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2) 27 all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24) all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832) Vorinostat(DB02546) GCAACATTACGGATTGTGTAG 0.378000 51 39 0 0 1 0 0 GBF1 8729 broad.mit.edu 37 10 104136133 104136133 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:104136133G>A ENST00000369983.3 + 31 4248 c.3988G>A c.(3988-3990)Ggc>Agc p.G1330S NM_001199378.1|NM_001199379.1|NM_004193.2 NP_001186307.1|NP_001186308.1|NP_004184.1 Q92538 GBF1_HUMAN golgi brefeldin A resistant guanine nucleotide exchange factor 1 1330 COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER Golgi membrane ARF guanyl-nucleotide exchange factor activity|protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 Colorectal(252;0.0236) Epithelial(162;5.16e-08)|all cancers(201;1.19e-06) TGGCAGGCCGGGCAAGATACA 0.537000 43 68 0 0 1 0 0 CDK5 1020 broad.mit.edu 37 7 150751520 150751520 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:150751520G>A ENST00000485972.1 - 10 1364 c.683C>T c.(682-684)cCc>cTc p.P228L CDK5_ENST00000297518.4_Missense_Mutation_p.P196L NM_004935.3 NP_004926.1 Q00535 CDK5_HUMAN cyclin-dependent kinase 5 228 Protein kinase. activation of pro-apoptotic gene products|blood coagulation|cell division|cell proliferation|embryo development|negative regulation of transcription, DNA-dependent|positive regulation of neuron apoptosis axon|cytosol|dendrite|growth cone|lamellipodium|membrane|neuromuscular junction|neuronal cell body acetylcholine receptor activator activity|ATP binding|cyclin-dependent protein kinase activity|ErbB-2 class receptor binding|ErbB-3 class receptor binding|tau-protein kinase activity central_nervous_system(1)|endometrium(2)|lung(5)|urinary_tract(1) 9 Breast(660;0.159)|Ovarian(593;0.182) OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.008)|Lung(243;0.00942)|BRCA - Breast invasive adenocarcinoma(188;0.242) GGTCATAGAGGGCCACTGCTC 0.597000 19 34 0 0 1 0 0 ZNF883 169834 broad.mit.edu 37 9 115760065 115760065 + RNA SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr9:115760065C>T ENST00000427548.1 - 0 1748 P0CG24 ZN883_HUMAN zinc finger protein 883 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding AAGGTTTTTCCACATTCAGTA 0.398000 30 8 0 0 1 0 0 TBL2 26608 broad.mit.edu 37 7 72985161 72985161 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:72985161G>A ENST00000305632.5 - 7 1261 c.1020C>T c.(1018-1020)tcC>tcT p.S340S TBL2_ENST00000459913.1_5'UTR|TBL2_ENST00000432538.1_Silent_p.S304S NM_012453.2 NP_036585.1 Q9Y4P3 TBL2_HUMAN transducin (beta)-like 2 340 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 19 Lung NSC(55;0.0659)|all_lung(88;0.152) GGGCGTTGGGGGAGAGGGCCA 0.617000 44 90 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62290619 62290619 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:62290619G>A ENST00000378024.4 - 5 11544 c.11270C>T c.(11269-11271)cCc>cTc p.P3757L AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 3757 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) CTTGACTTTGGGGCCCTTCAG 0.468000 64 86 0 0 1 0 0 DLGAP2 9228 broad.mit.edu 37 8 1626530 1626530 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:1626530C>T ENST00000421627.2 + 9 2333 c.2199C>T c.(2197-2199)acC>acT p.T733T DLGAP2_ENST00000524065.1_3'UTR NM_004745.3 NP_004736.2 Q9P1A6 DLGP2_HUMAN discs, large (Drosophila) homolog-associated protein 2 812 neuron-neuron synaptic transmission cell junction|neurofilament|postsynaptic density|postsynaptic membrane protein binding breast(1)|endometrium(6)|lung(31)|prostate(3) 41 Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846) BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171) GCACCCCCACCCAGTACAGCG 0.627000 17 32 0 0 1 0 0 TAS2R46 259292 broad.mit.edu 37 12 11214525 11214525 + Missense_Mutation SNP C C A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:11214525C>A ENST00000533467.1 - 1 368 c.369G>T c.(367-369)agG>agT p.R123S TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron NM_176887.2 NP_795368.2 P59540 T2R46_HUMAN taste receptor, type 2, member 46 123 sensory perception of taste cilium membrane|integral to membrane G-protein coupled receptor activity endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 12 OV - Ovarian serous cystadenocarcinoma(49;0.0344) BRCA - Breast invasive adenocarcinoma(232;0.196) TCTTAACTCTCCTCTTTAAGT 0.353000 36 56 6.84511e-11 6.91549e-11 1 1 0 ZCCHC18 644353 broad.mit.edu 37 X 103359851 103359851 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:103359851C>T ENST00000537356.2 + 1 1049 c.1049C>T c.(1048-1050)tCa>tTa p.S350L SLC25A53_ENST00000357421.4_Intron|ZCCHC18_ENST00000422784.1_Intron NM_001143978.1 NP_001137450.1 P0CG32 ZCC18_HUMAN zinc finger, CCHC domain containing 18 350 nucleic acid binding|zinc ion binding ACCCGCTGTTCATATTGTGGG 0.493000 6 12 0 0 1 0 0 COL11A1 1301 broad.mit.edu 37 1 103488354 103488354 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:103488354G>A ENST00000358392.2 - 8 1542 c.1225C>T c.(1225-1227)Cct>Tct p.P409S COL11A1_ENST00000512756.1_Intron|COL11A1_ENST00000370096.3_Missense_Mutation_p.P397S|COL11A1_ENST00000353414.4_Missense_Mutation_p.P358S NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 397 Nonhelical region. 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) TCTTCATTAGGGGGGCTTGTT 0.363000 20 47 0 0 1 0 0 OPRM1 4988 broad.mit.edu 37 6 154412608 154412608 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr6:154412608G>A ENST00000428397.2 + 3 1361 c.1165G>A c.(1165-1167)Gta>Ata p.V389I OPRM1_ENST00000414028.2_Splice_Site|OPRM1_ENST00000435918.2_Splice_Site|OPRM1_ENST00000337049.4_Splice_Site|OPRM1_ENST00000522555.1_Splice_Site|OPRM1_ENST00000419506.2_Splice_Site|OPRM1_ENST00000360422.4_Splice_Site|OPRM1_ENST00000520708.1_Splice_Site|OPRM1_ENST00000522236.1_Splice_Site|OPRM1_ENST00000452687.2_Splice_Site|OPRM1_ENST00000330432.7_Splice_Site|OPRM1_ENST00000434900.2_Splice_Site|OPRM1_ENST00000524163.1_Splice_Site|OPRM1_ENST00000518759.1_Splice_Site|OPRM1_ENST00000229768.5_Splice_Site NM_001008504.2 NP_001008504.2 P35372 OPRM_HUMAN opioid receptor, mu 1 389 behavior|negative regulation of cell proliferation|sensory perception endoplasmic reticulum|Golgi apparatus|integral to plasma membrane mu-opioid receptor activity|protein binding breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1) 33 Ovarian(120;0.196) OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154) Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193) TAATCATCAGGTACGCAGTCT 0.403000 15 14 0 0 1 0 0 ASXL3 80816 broad.mit.edu 37 18 31324490 31324490 + Nonsense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr18:31324490C>T ENST00000269197.5 + 12 4678 c.4678C>T c.(4678-4680)Cga>Tga p.R1560* NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 1560 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 CACAAGTCTCCGAGAATTACC 0.488000 OREG0024911 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 12 15 0 0 1 0 0 TMEM201 199953 broad.mit.edu 37 1 9662281 9662281 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:9662281G>A ENST00000340305.5 + 6 1120 c.1111G>A c.(1111-1113)Gct>Act p.A371T TMEM201_ENST00000377376.4_Missense_Mutation_p.A371T|TMEM201_ENST00000340381.6_Missense_Mutation_p.A371T NM_001010866.3 NP_001010866.1 Q5SNT2 TM201_HUMAN transmembrane protein 201 371 integral to membrane|nuclear inner membrane lung(3)|upper_aerodigestive_tract(1) 4 all_lung(157;0.222) all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419) CTTCACGGCGGCTGTGGCCAC 0.652000 20 16 0 0 1 0 0 GPR124 25960 broad.mit.edu 37 8 37688263 37688263 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:37688263C>T ENST00000315215.7 + 7 1117 c.754C>T c.(754-756)Ccg>Tcg p.P252S GPR124_ENST00000412232.2_Missense_Mutation_p.P252S Q96PE1 GP124_HUMAN G protein-coupled receptor 124 252 Ig-like. central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 37 BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10) CCACCTCATCCCGTCCCTACG 0.657000 6 9 0 0 1 0 0 MIR145 406937 broad.mit.edu 37 5 148810267 148810267 + RNA SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:148810267C>T ENST00000384967.1 + 0 59 NR_029686.1 GATGGGGATTCCTGGAAATAC 0.577000 OREG0016915 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 12 0 0 1 0 0 CD38 952 broad.mit.edu 37 4 15835885 15835885 + Missense_Mutation SNP A A G TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr4:15835885A>G ENST00000226279.2 + 4 682 c.545A>G c.(544-546)aAc>aGc p.N182S NM_001775.2 NP_001766.2 P28907 CD38_HUMAN CD38 molecule 182 B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug integral to membrane|plasma membrane binding|NAD+ nucleosidase activity|receptor activity endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1) 14 GACTGCAGCAACAACCCTGTT 0.388000 14 56 0 0 1 0 0 EHHADH 1962 broad.mit.edu 37 3 184910064 184910064 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:184910064G>A ENST00000231887.3 - 7 2197 c.2122C>T c.(2122-2124)Ccc>Tcc p.P708S EHHADH_ENST00000456310.1_Missense_Mutation_p.P612S NM_001166415.1|NM_001966.3 NP_001159887.1|NP_001957.2 Q08426 ECHP_HUMAN enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase 708 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) TCTTTCAGGGGAGGGTTTCCC 0.448000 29 63 0 0 1 0 0 FFAR4 338557 broad.mit.edu 37 10 95347060 95347060 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:95347060C>T ENST00000371483.4 + 4 884 c.828C>T c.(826-828)ttC>ttT p.F276F FFAR4_ENST00000604414.1_Intron|FFAR4_ENST00000371481.4_Silent_p.F260F NM_181745.3 NP_859529.2 free fatty acid receptor 4 AGCAGGACTTCCGGCTCTTCC 0.547000 43 63 0 0 1 0 0 ZNF883 169834 broad.mit.edu 37 9 115760001 115760001 + RNA SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr9:115760001G>A ENST00000427548.1 - 0 1812 P0CG24 ZN883_HUMAN zinc finger protein 883 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ACACTGGTAGGATTTTTCCTC 0.403000 31 9 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178937429 178937429 + Missense_Mutation SNP A A G TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:178937429A>G ENST00000263967.3 + 12 1974 c.1817A>G c.(1816-1818)tAc>tGc p.Y606C NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 606 PI3K helical. epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) GACTGTAATTACCCAGATCCT 0.363000 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 10 32 0 0 1 0 0 TRIT1 54802 broad.mit.edu 37 1 40313665 40313665 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:40313665C>T ENST00000316891.5 - 6 822 c.808G>A c.(808-810)Gaa>Aaa p.E270K TRIT1_ENST00000541099.1_Intron|TRIT1_ENST00000537440.1_Silent_p.R3R|TRIT1_ENST00000537223.1_Silent_p.R3R|TRIT1_ENST00000491865.1_Intron|TRIT1_ENST00000545233.1_Missense_Mutation_p.E24K|TRIT1_ENST00000441669.2_Missense_Mutation_p.E188K|TRIT1_ENST00000372818.1_Missense_Mutation_p.E270K NM_017646.4 NP_060116.2 Q9H3H1 MOD5_HUMAN tRNA isopentenyltransferase 1 270 tRNA processing mitochondrion ATP binding|metal ion binding|tRNA dimethylallyltransferase activity breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1) 15 all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) CACCTATTTTCCGAAACATTC 0.423000 14 29 0 0 1 0 0 FGFR4 2264 broad.mit.edu 37 5 176520154 176520154 + Nonsense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:176520154G>A ENST00000292408.4 + 9 1318 c.1073G>A c.(1072-1074)tGg>tAg p.W358* FGFR4_ENST00000292410.3_Intron|FGFR4_ENST00000502906.1_Nonsense_Mutation_p.W358*|FGFR4_ENST00000393637.1_Intron|FGFR4_ENST00000393648.2_Nonsense_Mutation_p.W358* NM_002011.3|NM_213647.1 NP_002002.3|NP_998812.1 P22455 FGFR4_HUMAN fibroblast growth factor receptor 4 358 insulin receptor signaling pathway|positive regulation of cell proliferation integral to plasma membrane ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 34 all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Palifermin(DB00039) GACCCCACATGGACCGCAGCA 0.642000 TSP Lung(9;0.080) 14 16 0 0 1 0 0 PDGFD 80310 broad.mit.edu 37 11 103866937 103866937 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:103866937G>A ENST00000302251.5 - 3 799 c.348C>T c.(346-348)acC>acT p.T116T PDGFD_ENST00000393158.2_Silent_p.T122T NM_025208.4|NM_033135.3 NP_079484.1|NP_149126.1 Q9GZP0 PDGFD_HUMAN platelet derived growth factor D 122 CUB. positive regulation of cell division endoplasmic reticulum lumen|extracellular region|Golgi membrane growth factor activity biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1) 23 Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165) BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111) TAATGGTACTGGTTTCGGATA 0.338000 16 33 0 0 1 0 0 EFCAB6 64800 broad.mit.edu 37 22 44028010 44028010 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr22:44028010G>A ENST00000262726.7 - 19 2460 c.2207C>T c.(2206-2208)cCt>cTt p.P736L EFCAB6_ENST00000396231.2_Missense_Mutation_p.P584L NM_022785.3 NP_073622.2 Q5THR3 EFCB6_HUMAN EF-hand calcium binding domain 6 736 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 Ovarian(80;0.0247)|all_neural(38;0.025) CAGCCTCCTAGGGAAAAGCTT 0.567000 49 82 0 0 1 0 0 SPDEF 25803 broad.mit.edu 37 6 34512014 34512014 + Nonsense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr6:34512014C>T ENST00000374037.3 - 2 633 c.219G>A c.(217-219)tgG>tgA p.W73* SPDEF_ENST00000544425.1_Nonsense_Mutation_p.W73* NM_012391.2 NP_036523.1 O95238 SPDEF_HUMAN SAM pointed domain containing ETS transcription factor 73 negative regulation of survival gene product expression|negative regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3) 15 CCTTGGCTGCCCAGCTGCTGT 0.672000 26 8 0 0 1 0 0 PTPRS 5802 broad.mit.edu 37 19 5238951 5238951 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:5238951G>A ENST00000372412.4 - 13 2064 c.1831C>T c.(1831-1833)Cgg>Tgg p.R611W PTPRS_ENST00000587303.1_Missense_Mutation_p.R610W|PTPRS_ENST00000588012.1_Missense_Mutation_p.R597W|PTPRS_ENST00000348075.2_Missense_Mutation_p.R597W|PTPRS_ENST00000262963.6_Missense_Mutation_p.R606W|PTPRS_ENST00000357368.4_Missense_Mutation_p.R610W|PTPRS_ENST00000353284.2_Missense_Mutation_p.R597W|PTPRS_ENST00000592099.1_Missense_Mutation_p.R597W|PTPRS_ENST00000588552.1_5'UTR Q13332 PTPRS_HUMAN protein tyrosine phosphatase, receptor type, S 610 Fibronectin type-III 3. cell adhesion integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1) 61 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182) GTGCGCTGCCGCACCACGGGG 0.721000 19 17 0 0 1 0 0 NPR2 4882 broad.mit.edu 37 9 35800800 35800800 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr9:35800800C>T ENST00000342694.2 + 6 1568 c.1313C>T c.(1312-1314)cCc>cTc p.P438L NM_003995.3 NP_003986.2 P20594 ANPRB_HUMAN natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B) 438 intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure integral to membrane|plasma membrane GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 45 all_epithelial(49;0.161) LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194) Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899) GACAATCCCCCCTGTGCCTTT 0.582000 29 17 0 0 1 0 0 CDK15 65061 broad.mit.edu 37 2 202677255 202677255 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:202677255G>A ENST00000450471.2 + 4 504 c.418G>A c.(418-420)Gaa>Aaa p.E140K CDK15_ENST00000434439.1_Missense_Mutation_p.E140K|CDK15_ENST00000374598.4_Missense_Mutation_p.E140K|CDK15_ENST00000260967.2_Missense_Mutation_p.E89K|CDK15_ENST00000410091.3_Missense_Mutation_p.E89K|CDK15_ENST00000488419.1_3'UTR NM_001261435.1 NP_001248364.1 Q96Q40 CDK15_HUMAN cyclin-dependent kinase 15 140 Protein kinase. ATP binding|cyclin-dependent protein kinase activity|metal ion binding|protein binding breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1) 26 Adenosine triphosphate(DB00171) GAATGCAGAGGAAGGAGTCCC 0.408000 37 52 0 0 1 0 0 STT3A 3703 broad.mit.edu 37 11 125478115 125478115 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:125478115C>T ENST00000392708.4 + 9 1051 c.892C>T c.(892-894)Ctt>Ttt p.L298F STT3A_ENST00000531491.1_Missense_Mutation_p.L206F|STT3A_ENST00000529196.1_Missense_Mutation_p.L298F NM_001278503.1|NM_001278504.1|NM_152713.3 NP_001265432.1|NP_001265433.1|NP_689926.1 P46977 STT3A_HUMAN STT3A, subunit of the oligosaccharyltransferase complex (catalytic) 298 post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex dolichyl-diphosphooligosaccharide-protein glycotransferase activity NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1) 33 all_hematologic(175;0.228) Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996) ATTTGAAGTTCTTTTCCGGAG 0.498000 39 71 0 0 1 0 0 ZNF878 729747 broad.mit.edu 37 19 12155188 12155188 + Missense_Mutation SNP T T A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:12155188T>A ENST00000602107.1 - 5 1168 c.1169A>T c.(1168-1170)aAa>aTa p.K390I ZNF878_ENST00000547628.1_Missense_Mutation_p.K343I|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591838.1_RNA C9JN71 ZN878_HUMAN zinc finger protein 878 343 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1) 8 TTTCACACATTTTTTACATTC 0.388000 21 43 0 0 1 0 0 COL4A5 1287 broad.mit.edu 37 X 107823795 107823795 + Silent SNP T T G TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:107823795T>G ENST00000328300.6 + 14 1057 c.813T>G c.(811-813)ccT>ccG p.P271P COL4A5_ENST00000361603.2_Silent_p.P271P NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 271 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 CTCCTGGACCTCCAGGGATAC 0.433000 Alport syndrome with Diffuse Leiomyomatosis 46 85 0 0 1 0 0 MAN2A2 4122 broad.mit.edu 37 15 91448716 91448716 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr15:91448716G>A ENST00000360468.3 + 2 386 c.368G>A c.(367-369)cGg>cAg p.R123Q MAN2A2_ENST00000559717.1_Missense_Mutation_p.R123Q NM_006122.2 NP_006113.2 P49641 MA2A2_HUMAN mannosidase, alpha, class 2A, member 2 123 mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.229) TTGGGGGGCCGGGGTCAGAAG 0.632000 15 19 0 0 1 0 0 RBBP5 5929 broad.mit.edu 37 1 205069075 205069075 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:205069075G>A ENST00000264515.6 - 8 1011 c.870C>T c.(868-870)ctC>ctT p.L290L RBBP5_ENST00000367164.1_Silent_p.L290L NM_001193273.1|NM_005057.3 NP_001180202.1|NP_005048.2 Q15291 RBBP5_HUMAN retinoblastoma binding protein 5 290 histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent MLL1 complex|Set1C/COMPASS complex methylated histone residue binding|transcription regulatory region DNA binding cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 27 Breast(84;0.0505) BRCA - Breast invasive adenocarcinoma(75;0.0923) TCGTCCCATGGAGAATCTTCA 0.463000 37 110 0 0 1 0 0 ZNF391 346157 broad.mit.edu 37 6 27369165 27369165 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr6:27369165G>A ENST00000244576.4 + 3 1561 c.1016G>A c.(1015-1017)gGa>gAa p.G339E NM_001076781.1 NP_001070249.1 Q9UJN7 ZN391_HUMAN zinc finger protein 391 339 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1) 21 AATGACTGTGGAAAAGCCTTC 0.403000 27 17 0 0 1 0 0 SIGLEC8 27181 broad.mit.edu 37 19 51961241 51961241 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:51961241C>T ENST00000321424.3 - 1 467 c.401G>A c.(400-402)aGt>aAt p.S134N SIGLEC8_ENST00000340550.5_Missense_Mutation_p.S134N|SIGLEC8_ENST00000430817.1_Missense_Mutation_p.S134N NM_014442.2 NP_055257.2 Q9NYZ4 SIGL8_HUMAN sialic acid binding Ig-like lectin 8 134 cell adhesion integral to membrane sugar binding|transmembrane receptor activity NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2) 50 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979) TGATTTGTAACTCCATTTCAT 0.502000 43 87 0 0 1 0 0 CD79A 973 broad.mit.edu 37 19 42383095 42383095 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:42383095C>T ENST00000221972.3 + 2 300 c.115C>T c.(115-117)Cca>Tca p.P39S CD79A_ENST00000444740.2_Missense_Mutation_p.P39S NM_001783.3|NM_021601.3 NP_001774.1|NP_067612.1 P11912 CD79A_HUMAN CD79a molecule, immunoglobulin-associated alpha 39 Ig-like C2-type. B cell differentiation|B cell proliferation|B cell receptor signaling pathway B cell receptor complex|external side of plasma membrane|integral to membrane|membrane raft|multivesicular body transmembrane receptor activity large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 11 GCACAAGGTCCCAGCATCATT 0.632000 """O, S""" DLBCL 21 33 0 0 1 0 0 FAT3 120114 broad.mit.edu 37 11 92088500 92088500 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:92088500G>A ENST00000298047.6 + 1 3239 c.3222G>A c.(3220-3222)agG>agA p.R1074R FAT3_ENST00000541502.1_Silent_p.R1074R|FAT3_ENST00000525166.1_Silent_p.R924R|FAT3_ENST00000409404.2_Silent_p.R1074R Q8TDW7 FAT3_HUMAN FAT atypical cadherin 3 1074 Cadherin 10. homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5) 85 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) ACTCCGGAAGGGATGGAGAGA 0.478000 TCGA Ovarian(4;0.039) 19 25 0 0 1 0 0 RAB41 347517 broad.mit.edu 37 X 69502097 69502097 + Nonsense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:69502097G>A ENST00000374473.2 + 1 76 c.30G>A c.(28-30)tgG>tgA p.W10* RAB41_ENST00000276066.4_Nonsense_Mutation_p.W10* Q5JT25 RAB41_HUMAN RAB41, member RAS oncogene family 10 protein transport|small GTPase mediated signal transduction GTP binding breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2) 14 ACGAGGCCTGGATGGAGGCCG 0.572000 36 54 0 0 1 0 0 EZH1 2145 broad.mit.edu 37 17 40879703 40879703 + Nonsense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:40879703G>A ENST00000428826.2 - 4 317 c.196C>T c.(196-198)Caa>Taa p.Q66* EZH1_ENST00000590078.1_5'UTR|EZH1_ENST00000592743.1_Nonsense_Mutation_p.Q66*|EZH1_ENST00000585893.1_Nonsense_Mutation_p.Q66*|EZH1_ENST00000415827.2_Nonsense_Mutation_p.Q66*|EZH1_ENST00000435174.1_Missense_Mutation_p.P7L Q92800 EZH1_HUMAN enhancer of zeste homolog 1 (Drosophila) 66 anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex chromatin binding|DNA binding breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2) 27 Breast(137;0.00104) BRCA - Breast invasive adenocarcinoma(366;0.0784) TGAACAGGTTGGACACGAAGC 0.423000 33 54 0 0 1 0 0 DNAJC13 23317 broad.mit.edu 37 3 132207165 132207165 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:132207165C>T ENST00000260818.6 + 30 3539 c.3291C>T c.(3289-3291)atC>atT p.I1097I NM_015268.3 NP_056083.3 O75165 DJC13_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 13 1097 I -> T (in Ref. 6; BAC86133). heat shock protein binding breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1) 34 TTGACCCTATCCTTGTTGAGA 0.338000 20 36 0 0 1 0 0 SLC27A5 10998 broad.mit.edu 37 19 59010871 59010871 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:59010871C>T ENST00000263093.2 - 7 1764 c.1655G>A c.(1654-1656)gGg>gAg p.G552E SLC27A5_ENST00000601355.1_Missense_Mutation_p.G468E NM_012254.2 NP_036386.1 Q9Y2P5 S27A5_HUMAN solute carrier family 27 (fatty acid transporter), member 5 552 bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process endoplasmic reticulum membrane|integral to membrane ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 19 all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181) GAAGGTGTCCCCGAGGCGGTC 0.667000 15 23 0 0 1 0 0 EFCAB6 64800 broad.mit.edu 37 22 44022347 44022347 + Silent SNP T T C TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr22:44022347T>C ENST00000262726.7 - 20 2698 c.2445A>G c.(2443-2445)gaA>gaG p.E815E EFCAB6_ENST00000396231.2_Silent_p.E663E NM_022785.3 NP_073622.2 Q5THR3 EFCB6_HUMAN EF-hand calcium binding domain 6 815 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 Ovarian(80;0.0247)|all_neural(38;0.025) TTTGAGGCGCTTCATCTGTTC 0.478000 10 32 0 0 1 0 0 GRK6 2870 broad.mit.edu 37 5 176859793 176859793 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:176859793C>T ENST00000355472.5 + 5 594 c.426C>T c.(424-426)ttC>ttT p.F142F GRK6_ENST00000528793.1_Silent_p.F142F|GRK6_ENST00000355958.5_Silent_p.F142F|GRK6_ENST00000393576.3_Silent_p.F142F|GRK6_ENST00000507633.1_Silent_p.F142F NM_001004106.2|NM_002082.3 NP_001004106.1|NP_002073.2 P43250 GRK6_HUMAN G protein-coupled receptor kinase 6 142 N-terminal.|RGS. regulation of G-protein coupled receptor protein signaling pathway membrane ATP binding|G-protein coupled receptor kinase activity|signal transducer activity breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1) 25 all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152) all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AAGACCTTTTCCAGGAACTCA 0.637000 5 13 0 0 1 0 0 ATP2A2 488 broad.mit.edu 37 12 110783811 110783811 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:110783811C>T ENST00000395494.2 + 18 3229 c.2666C>T c.(2665-2667)tCc>tTc p.S889F ATP2A2_ENST00000539276.2_Missense_Mutation_p.S916F|ATP2A2_ENST00000308664.6_Missense_Mutation_p.S916F P16615 AT2A2_HUMAN ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 916 ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 38 TGCAGCTTGTCCGAAAACCAG 0.572000 29 84 0 0 1 0 0 ZFP69 339559 broad.mit.edu 37 1 40961128 40961128 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:40961128C>T ENST00000372706.1 + 6 1984 c.978C>T c.(976-978)ccC>ccT p.P326P RP11-656D10.3_ENST00000450713.1_RNA|ZFP69_ENST00000372705.3_Silent_p.P326P ZFP69 zinc finger protein GTGAGAAACCCTTTGAATGTG 0.433000 26 24 0 0 1 0 0 KIAA0319 9856 broad.mit.edu 37 6 24596622 24596622 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr6:24596622C>T ENST00000535378.1 - 4 895 c.253G>A c.(253-255)Ggc>Agc p.G85S KIAA0319_ENST00000537886.1_Missense_Mutation_p.G94S|KIAA0319_ENST00000378214.3_Missense_Mutation_p.G94S|KIAA0319_ENST00000430948.2_Missense_Mutation_p.G49S|KIAA0319_ENST00000543707.1_Missense_Mutation_p.G94S NM_001168374.1 NP_001161846.1 Q5VV43 K0319_HUMAN KIAA0319 94 MANSC. negative regulation of dendrite development|neuron migration early endosome membrane|integral to membrane|plasma membrane protein binding breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 53 CTGATGGGGCCCATCTTCTTG 0.597000 26 19 0 0 1 0 0 MYH1 4619 broad.mit.edu 37 17 10401082 10401082 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:10401082G>A ENST00000226207.5 - 31 4428 c.4334C>T c.(4333-4335)gCc>gTc p.A1445V CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1445 A -> T (in a breast cancer sample; somatic mutation). 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 TTTGTCCAGGGCGGCACAGGC 0.448000 34 68 0 0 1 0 0 CDH5 1003 broad.mit.edu 37 16 66436580 66436580 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr16:66436580G>A ENST00000341529.3 + 12 2011 c.1863G>A c.(1861-1863)cgG>cgA p.R621R CDH5_ENST00000539168.1_Silent_p.R60R NM_001795.3 NP_001786.2 P33151 CADH5_HUMAN cadherin 5, type 2 (vascular endothelium) 621 adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity integral to membrane|membrane fraction beta-catenin binding|calcium ion binding|ion channel binding|receptor binding central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 54 Ovarian(137;0.0955) OV - Ovarian serous cystadenocarcinoma(108;0.107) TCTTCCTGCGGCGGCGGCTCC 0.706000 9 7 0 0 1 0 0 KCNMB1 3779 broad.mit.edu 37 5 169805801 169805801 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:169805801G>A ENST00000274629.4 - 4 925 c.483C>T c.(481-483)ctC>ctT p.L161L KCNIP1_ENST00000518527.1_Intron|KCNIP1_ENST00000377360.4_Intron NM_004137.3 NP_004128.1 Q16558 KCMB1_HUMAN potassium large conductance calcium-activated channel, subfamily M, beta member 1 161 platelet activation|synaptic transmission calcium-activated potassium channel activity|potassium channel regulator activity endometrium(1)|large_intestine(1)|lung(7)|ovary(2) 11 Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026) Medulloblastoma(196;0.0109)|all_neural(177;0.0146) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) all cancers(165;0.175) TGGGCCAGAAGAGGGAGAAGA 0.607000 33 27 0 0 1 0 0 ZNF544 27300 broad.mit.edu 37 19 58758138 58758138 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:58758138G>A ENST00000599227.1 + 6 771 c.187G>A c.(187-189)Ggc>Agc p.G63S ZNF544_ENST00000596597.1_3'UTR|CTD-3138B18.4_ENST00000600029.1_3'UTR|ZNF544_ENST00000596929.1_Silent_p.R74R|ZNF544_ENST00000596825.1_Missense_Mutation_p.G63S|ZNF544_ENST00000333581.5_Silent_p.R74R|ZNF544_ENST00000600044.1_Intron|ZNF544_ENST00000595981.1_Silent_p.R74R|ZNF544_ENST00000269829.4_Silent_p.R74R|ZNF544_ENST00000594384.1_Missense_Mutation_p.G63S|ZNF544_ENST00000596652.1_Silent_p.R74R|ZNF544_ENST00000415203.2_Intron|ZNF544_ENST00000600220.1_Intron|ZNF544_ENST00000599953.1_5'UTR Q6NX49 ZN544_HUMAN zinc finger protein 544 0 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1) 18 all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018) ACCTGTGCAGGGCAGAGCAGG 0.572000 25 56 0 0 1 0 0 MAGEA11 4110 broad.mit.edu 37 X 148797757 148797757 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:148797757G>A ENST00000355220.5 + 5 713 c.611G>A c.(610-612)gGg>gAg p.G204E MAGEA11_ENST00000333104.4_Missense_Mutation_p.G175E NM_005366.4 NP_005357.2 P43364 MAGAB_HUMAN melanoma antigen family A, 11 204 cytoplasm|nucleus protein binding cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1) 9 Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662) GAAAAGGAGGGGCCAAGTACC 0.498000 64 58 0 0 1 0 0 MROH7 374977 broad.mit.edu 37 1 55175835 55175835 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:55175835C>T ENST00000421030.2 + 24 4232 c.3947C>T c.(3946-3948)tCc>tTc p.S1316F MROH7_ENST00000414150.2_Intron|MROH7_ENST00000454855.2_Missense_Mutation_p.S834F|MROH7_ENST00000409996.1_Missense_Mutation_p.S884F NM_001039464.2 NP_001034553.2 maestro heat-like repeat family member 7 GCACTGGGCTCCTGGAAGATG 0.592000 7 21 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179596984 179596984 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:179596984G>A ENST00000589042.1 - 57 16936 c.16712C>T c.(16711-16713)cCt>cTt p.P5571L TTN_ENST00000342992.6_Missense_Mutation_p.P4327L|TTN_ENST00000591111.1_Missense_Mutation_p.P5254L|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 5254 Ig-like 36. 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) TTTAATTGGAGGGGTACCAGT 0.428000 33 87 0 0 1 0 0 MDC1 9656 broad.mit.edu 37 6 30671662 30671662 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr6:30671662G>A ENST00000376406.3 - 10 5945 c.5298C>T c.(5296-5298)tcC>tcT p.S1766S MDC1_ENST00000376405.2_Silent_p.S1502S|MDC1-AS1_ENST00000442150.1_RNA NM_014641.2 NP_055456.2 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 1766 Required for nuclear localization (NLS2). cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|kidney(1)|ovary(1) 4 TGGCTGTAAGGGATTCAGCTG 0.532000 Other conserved DNA damage response genes 30 24 0 0 1 0 0 YES1 7525 broad.mit.edu 37 18 724563 724563 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr18:724563G>A ENST00000584307.1 - 12 1663 c.1493C>T c.(1492-1494)cCa>cTa p.P498L YES1_ENST00000577961.1_Missense_Mutation_p.P503L|YES1_ENST00000314574.4_Missense_Mutation_p.P498L P07947 YES_HUMAN v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1 498 Protein kinase. blood coagulation|leukocyte migration|regulation of vascular permeability|T cell costimulation cytosol|plasma membrane ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1) 17 Dasatinib(DB01254) GAGGGATTCTGGACAGCCCTG 0.418000 32 41 0 0 1 0 0 FCRL4 83417 broad.mit.edu 37 1 157545400 157545400 + Splice_Site SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:157545400C>T ENST00000271532.1 - 12 1597 c.1461_splice c.e12-1 p.D488_splice FCRL4_ENST00000448509.2_5'UTR NM_031282.2 NP_112572.1 Q96PJ5 FCRL4_HUMAN Fc receptor-like 4 488 integral to membrane|plasma membrane receptor activity breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 40 all_hematologic(112;0.0378)|Hepatocellular(266;0.178) Prostate(1639;0.245) ACTGAGACATCCTGAAATGGA 0.428000 11 47 0 0 1 0 0 ZNF146 7705 broad.mit.edu 37 19 36727789 36727789 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:36727789C>T ENST00000456324.1 + 3 1896 c.447C>T c.(445-447)atC>atT p.I149I ZNF565_ENST00000355114.5_Intron|ZNF146_ENST00000443387.2_Silent_p.I149I NM_001099638.1|NM_001099639.1 NP_001093108.1|NP_001093109.1 Q15072 OZF_HUMAN zinc finger protein 146 149 regulation of transcription, DNA-dependent cytoplasm|nucleolus DNA binding|heparin binding|zinc ion binding kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 11 Esophageal squamous(110;0.162) ATGAGAAAATCCATATTGGAG 0.423000 27 36 0 0 1 0 0 IGHV3-20 28445 broad.mit.edu 37 14 106668031 106668031 + RNA SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr14:106668031C>T ENST00000390606.2 - 0 64 GCCCAAACTCCATGGCGAGTC 0.507000 62 95 0 0 1 0 0 CASR 846 broad.mit.edu 37 3 121981200 121981200 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:121981200G>A ENST00000498619.1 + 4 1756 c.1318G>A c.(1318-1320)Ggg>Agg p.G440R CASR_ENST00000296154.5_Missense_Mutation_p.G440R|CASR_ENST00000490131.1_Missense_Mutation_p.G440R NM_001178065.1 NP_001171536.1 P41180 CASR_HUMAN calcium-sensing receptor 440 anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) CTGCTTACCTGGGAGAGGGCT 0.448000 37 56 0 0 1 0 0 SMC2 10592 broad.mit.edu 37 9 106891979 106891979 + Silent SNP T T C TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr9:106891979T>C ENST00000286398.7 + 21 3132 c.2844T>C c.(2842-2844)ttT>ttC p.F948F SMC2_ENST00000303219.8_Silent_p.F948F|SMC2_ENST00000374793.3_Silent_p.F948F|SMC2_ENST00000374787.3_Silent_p.F948F NM_001042551.1|NM_001265602.1|NM_006444.2 NP_001036016.1|NP_001252531.1|NP_006435.2 O95347 SMC2_HUMAN structural maintenance of chromosomes 2 948 cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism condensin complex|cytoplasm|nuclear chromosome ATP binding|protein heterodimerization activity breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2) 48 GACACCTCTTTGGCCAACCCA 0.373000 84 22 0 0 1 0 0 ENPP2 5168 broad.mit.edu 37 8 120577144 120577144 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:120577144C>T ENST00000427067.2 - 24 2426 c.2246G>A c.(2245-2247)aGa>aAa p.R749K ENPP2_ENST00000259486.6_Missense_Mutation_p.R780K|ENPP2_ENST00000522826.1_Missense_Mutation_p.R753K|ENPP2_ENST00000075322.6_Missense_Mutation_p.R728K|ENPP2_ENST00000522167.1_Missense_Mutation_p.R363K Q13822 ENPP2_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 2 728 cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration extracellular space|integral to plasma membrane alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4) 69 Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161) STAD - Stomach adenocarcinoma(47;0.00185) AACTCCATTTCTTTCCGAAGC 0.358000 18 46 0 0 1 0 0 ZNF317 57693 broad.mit.edu 37 19 9271436 9271436 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:9271436G>A ENST00000247956.6 + 7 1420 c.1115G>A c.(1114-1116)cGc>cAc p.R372H ZNF317_ENST00000360385.3_Missense_Mutation_p.R340H NM_020933.4 NP_065984.3 Q96PQ6 ZN317_HUMAN zinc finger protein 317 372 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3) 27 AAAGCCTTCCGCTGGAAGTCC 0.542000 16 9 0 0 1 0 0 RPS6KA2 6196 broad.mit.edu 37 6 166833431 166833431 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr6:166833431C>T ENST00000510118.1 - 20 2174 c.1834G>A c.(1834-1836)Ggc>Agc p.G612S RPS6KA2_ENST00000503859.1_Missense_Mutation_p.G595S|RPS6KA2_ENST00000481261.2_Missense_Mutation_p.G498S|RPS6KA2_ENST00000405189.3_Missense_Mutation_p.G498S|RPS6KA2_ENST00000265678.4_Missense_Mutation_p.G587S|RPS6KA2_ENST00000509742.1_5'UTR Q15349 KS6A2_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 2 587 Protein kinase 2. axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 45 Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105) OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05) GCATCATAGCCTTGACGCTTC 0.557000 21 13 0 0 1 0 0 IDUA 3425 broad.mit.edu 37 4 981720 981720 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr4:981720G>A ENST00000247933.4 + 2 370 c.282G>A c.(280-282)ctG>ctA p.L94L IDUA_ENST00000509744.1_3'UTR|SLC26A1_ENST00000398520.2_Intron|SLC26A1_ENST00000361661.2_3'UTR|IDUA_ENST00000453894.1_Intron NM_000203.3 NP_000194.2 P35475 IDUA_HUMAN iduronidase, alpha-L- 94 disaccharide metabolic process lysosome cation binding|L-iduronidase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1) 12 OV - Ovarian serous cystadenocarcinoma(23;0.0158) Laronidase(DB00090) ACTGGCTGCTGGAGCTTGTCA 0.682000 3 11 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113697867 113697867 + Silent SNP C C T rs144040661 TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:113697867C>T ENST00000297405.5 - 15 2494 c.2250G>A c.(2248-2250)acG>acA p.T750T CSMD3_ENST00000343508.3_Silent_p.T710T|CSMD3_ENST00000455883.2_Silent_p.T646T|CSMD3_ENST00000352409.3_Silent_p.T750T NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 750 CUB 4. integral to membrane|plasma membrane p.T750T(2) 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 CAGAGATTATCGTCCAGATGC 0.433000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 39 64 0 0 1 0 0 SPTA1 6708 broad.mit.edu 37 1 158627453 158627453 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:158627453C>T ENST00000368148.3 - 19 2799 c.2619G>A c.(2617-2619)agG>agA p.R873R SPTA1_ENST00000368147.3_Silent_p.R873R NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) 873 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) AACTCTTGACCCTAGAGGCCA 0.453000 20 71 0 0 1 0 0 IRX4 50805 broad.mit.edu 37 5 1880924 1880924 + Missense_Mutation SNP A A C TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:1880924A>C ENST00000505790.1 - 4 778 c.322T>G c.(322-324)Tcg>Gcg p.S108A IRX4_ENST00000505938.1_5'UTR|IRX4_ENST00000231357.2_Missense_Mutation_p.S108A|IRX4_ENST00000513692.1_Missense_Mutation_p.S108A NM_001278634.1 NP_001265563.1 P78413 IRX4_HUMAN iroquois homeobox 4 108 heart development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|lung(7)|ovary(1)|prostate(1) 10 GBM - Glioblastoma multiforme(108;0.242) GCAGATCCCGAACCATCCTTG 0.637000 22 65 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55541534 55541534 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:55541534G>A ENST00000220676.1 + 4 5240 c.5092G>A c.(5092-5094)Gag>Aag p.E1698K NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 1698 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) GGAATTCCAGGAGGAAAGACA 0.403000 47 79 0 0 1 0 0 GRID1 2894 broad.mit.edu 37 10 87407024 87407024 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:87407024G>A ENST00000327946.7 - 13 2213 c.2128C>T c.(2128-2130)Cgg>Tgg p.R710W GRID1_ENST00000536331.1_Missense_Mutation_p.R281W|RP11-93H12.4_ENST00000474115.2_RNA NM_017551.2 NP_060021.1 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 710 cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5) 106 L-Glutamic Acid(DB00142) CTGATGGTCCGCCAGAGTTCA 0.572000 Multiple Myeloma(13;0.14) 120 143 0 0 1 0 0 GAS2L1 10634 broad.mit.edu 37 22 29708407 29708407 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr22:29708407C>T ENST00000406549.3 + 6 1436 c.1286C>T c.(1285-1287)cCc>cTc p.P429L GAS2L1_ENST00000407647.2_3'UTR|GAS2L1_ENST00000403764.1_3'UTR|GAS2L1_ENST00000360113.2_3'UTR|GAS2L1_ENST00000407854.1_3'UTR|GAS2L1_ENST00000471961.1_3'UTR Q99501 GA2L1_HUMAN growth arrest-specific 2 like 1 656 cell cycle arrest cytoplasm|cytoskeleton endometrium(2)|lung(2)|prostate(1) 5 CCCCGCCGCCCCTCCGGACCC 0.672000 12 19 0 0 1 0 0 ABHD8 79575 broad.mit.edu 37 19 17403623 17403623 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:17403623G>A ENST00000247706.3 - 5 1406 c.1167C>T c.(1165-1167)ttC>ttT p.F389F MRPL34_ENST00000595444.1_Silent_p.R58R|MRPL34_ENST00000600434.1_5'UTR NM_024527.4 NP_078803.4 Q96I13 ABHD8_HUMAN abhydrolase domain containing 8 389 hydrolase activity central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1) 9 TGAGCTTCAGGAATGCCAGGA 0.622000 10 15 0 0 1 0 0 SPARCL1 8404 broad.mit.edu 37 4 88414792 88414792 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr4:88414792C>T ENST00000418378.1 - 5 1731 c.1160G>A c.(1159-1161)aGa>aAa p.R387K SPARCL1_ENST00000282470.6_Missense_Mutation_p.R387K|SPARCL1_ENST00000503414.1_Missense_Mutation_p.R262K NM_001128310.1 NP_001121782.1 Q14515 SPRL1_HUMAN SPARC-like 1 (hevin) 387 signal transduction extracellular space|proteinaceous extracellular matrix calcium ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2) 21 OV - Ovarian serous cystadenocarcinoma(123;0.00118) TACTTTTTCTCTTTGCTCCTC 0.433000 14 38 0 0 1 0 0 TTYH3 80727 broad.mit.edu 37 7 2686531 2686531 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:2686531G>A ENST00000258796.7 + 2 373 c.168G>A c.(166-168)ctG>ctA p.L56L TTYH3_ENST00000407643.1_Silent_p.L56L NM_025250.2 NP_079526.1 Q9C0H2 TTYH3_HUMAN tweety family member 3 56 chloride channel complex|plasma membrane chloride channel activity kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2) 17 Ovarian(82;0.0112) OV - Ovarian serous cystadenocarcinoma(56;2.04e-14) GCCTCGCCCTGGACCTCCTCT 0.711000 12 12 0 0 1 0 0 CSMD3 114788 broad.mit.edu 37 8 113277674 113277674 + Silent SNP A A G TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:113277674A>G ENST00000297405.5 - 60 9898 c.9654T>C c.(9652-9654)aaT>aaC p.N3218N CSMD3_ENST00000343508.3_Silent_p.N3178N|CSMD3_ENST00000455883.2_Silent_p.N3049N|CSMD3_ENST00000352409.3_Silent_p.N3148N NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 3218 Sushi 24. integral to membrane|plasma membrane p.T3214_W3221del(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 TCCATGTGCCATTAATTGTAC 0.358000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 37 82 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141727464 141727464 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:141727464C>T ENST00000475668.2 + 10 1204 c.1150C>T c.(1150-1152)Cgt>Tgt p.R384C MGAM_ENST00000549489.2_Missense_Mutation_p.R384C O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 384 Maltase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) TCACCTCAGTCGTTACGAATA 0.453000 19 38 0 0 1 0 0 CAPN6 827 broad.mit.edu 37 X 110494250 110494250 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:110494250C>T ENST00000324068.1 - 8 1220 c.1053G>A c.(1051-1053)aaG>aaA p.K351K CAPN6_ENST00000541758.1_Silent_p.K96K NM_014289.3 NP_055104.2 Q9Y6Q1 CAN6_HUMAN calpain 6 351 Domain III. microtubule bundle formation|proteolysis|regulation of cytoskeleton organization perinuclear region of cytoplasm|spindle microtubule calcium-dependent cysteine-type endopeptidase activity|microtubule binding cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 47 ATTCCAGCTCCTTTCGGCCAA 0.502000 215 230 0 0 1 0 0 CAMTA1 23261 broad.mit.edu 37 1 7724812 7724812 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:7724812C>T ENST00000303635.7 + 9 2412 c.2205C>T c.(2203-2205)atC>atT p.I735I CAMTA1_ENST00000439411.2_Silent_p.I735I NM_015215.2 NP_056030.1 Q9Y6Y1 CMTA1_HUMAN calmodulin binding transcription activator 1 735 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus calmodulin binding breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 85 Ovarian(185;0.0634) all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388) UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133) GCGTCCCCATCCTCCCGGGCA 0.652000 T WWTR1 epitheliod hemangioendothelioma 34 43 0 0 1 0 0 RP1L1 94137 broad.mit.edu 37 8 10469726 10469726 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:10469726G>A ENST00000382483.3 - 4 2105 c.1882C>T c.(1882-1884)Cct>Tct p.P628S NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 628 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) CAGGTGGAAGGGGTGGAAGAG 0.662000 32 40 0 0 1 0 0 NRROS 375387 broad.mit.edu 37 3 196387579 196387579 + Silent SNP C C G TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:196387579C>G ENST00000328557.4 + 3 1268 c.1065C>G c.(1063-1065)tcC>tcG p.S355S NM_198565.1 NP_940967.1 negative regulator of reactive oxygen species CTTCCCTCTCCCACCTGAACC 0.602000 34 70 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49416621 49416621 + Missense_Mutation SNP A A T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:49416621A>T ENST00000301067.7 - 51 16089 c.16090T>A c.(16090-16092)Tat>Aat p.Y5364N NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D GTGCTCTGATATGCCTTAGAC 0.542000 16 18 0 0 1 0 0 SPTY2D1 144108 broad.mit.edu 37 11 18637344 18637344 + Silent SNP G G A rs144589695 byFrequency TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:18637344G>A ENST00000336349.5 - 3 712 c.477C>T c.(475-477)ccC>ccT p.P159P SPTY2D1_ENST00000543776.1_5'UTR NM_194285.2 NP_919261.2 Q68D10 SPT2_HUMAN SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae) 159 breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1) 30 CACTTTTAAGGGGGACCTTTG 0.453000 32 58 0 0 1 0 0 BRI3BP 140707 broad.mit.edu 37 12 125509700 125509700 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:125509700C>T ENST00000341446.8 + 3 571 c.480C>T c.(478-480)atC>atT p.I160I NM_080626.5 NP_542193.3 Q8WY22 BRI3B_HUMAN BRI3 binding protein 160 integral to membrane|mitochondrial outer membrane large_intestine(1)|lung(8)|ovary(1) 10 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.35e-05)|Epithelial(86;0.000426)|all cancers(50;0.00576) TCTTCTGGATCGTGCGGGTCG 0.627000 17 88 0 0 1 0 0 ARHGAP29 9411 broad.mit.edu 37 1 94654438 94654438 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:94654438C>T ENST00000260526.6 - 15 1818 c.1636G>A c.(1636-1638)Ggg>Agg p.G546R ARHGAP29_ENST00000482481.1_5'UTR NM_004815.3 NP_004806.3 Q52LW3 RHG29_HUMAN Rho GTPase activating protein 29 546 Rho protein signal transduction cytosol metal ion binding|Rho GTPase activator activity NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 all_lung(203;0.000732)|Lung NSC(277;0.00328) all cancers(265;0.0187)|Epithelial(280;0.159) TCGCTGCTCCCTCCAGTGCTC 0.368000 19 84 0 0 1 0 0 NXF2 56001 broad.mit.edu 37 X 101581424 101581424 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:101581424C>T ENST00000395088.2 + 34 3749 c.1877C>T c.(1876-1878)tCc>tTc p.S626F NXF2_ENST00000330252.5_Missense_Mutation_p.S626F|NXF2_ENST00000372758.1_Missense_Mutation_p.S626F|NXF2_ENST00000372757.1_Missense_Mutation_p.S626F|NXF2_ENST00000372763.1_3'UTR Q9GZY0 NXF2_HUMAN nuclear RNA export factor 2 626 mRNA export from nucleus|multicellular organismal development actin cytoskeleton|cytoplasm|nuclear RNA export factor complex nucleocytoplasmic transporter activity|nucleotide binding|RNA binding endometrium(2)|lung(2) 4 AAGCAAATCTCCTAAAAGGAG 0.498000 29 153 0 0 1 0 0 FRYL 285527 broad.mit.edu 37 4 48542845 48542845 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr4:48542845G>A ENST00000358350.4 - 46 6424 c.5820C>T c.(5818-5820)aaC>aaT p.N1940N FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000537810.1_Silent_p.N1940N|FRYL_ENST00000503238.1_Silent_p.N1940N|FRYL_ENST00000264319.7_5'UTR NM_015030.1 NP_055845.1 O94915 FRYL_HUMAN FRY-like 1940 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 ATCTCAAAGAGTTACTTCTTG 0.418000 19 27 0 0 1 0 0 ZDHHC2 51201 broad.mit.edu 37 8 17065601 17065601 + Splice_Site SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:17065601G>A ENST00000262096.8 + 8 1425 c.730_splice c.e8+1 p.E244_splice NM_016353.4 NP_057437.1 Q9UIJ5 ZDHC2_HUMAN zinc finger, DHHC-type containing 2 244 integral to membrane acyltransferase activity|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|pancreas(1)|stomach(1) 8 Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244) ATCTACATTAGGTGAGTATCC 0.348000 4 2 0 0 1 0 0 DRC1 92749 broad.mit.edu 37 2 26667171 26667171 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:26667171C>T ENST00000288710.2 + 9 1184 c.1110C>T c.(1108-1110)acC>acT p.T370T DRC1_ENST00000483675.1_3'UTR NM_145038.2 NP_659475.2 dynein regulatory complex subunit 1 homolog (Chlamydomonas) AGTCTCTAACCTCGGACTACA 0.428000 28 28 0 0 1 0 0 MED12 9968 broad.mit.edu 37 X 70349587 70349587 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:70349587C>T ENST00000333646.6 + 27 3948 c.3749C>T c.(3748-3750)cCa>cTa p.P1250L MED12_ENST00000374102.1_Missense_Mutation_p.P1250L|MED12_ENST00000374080.3_Missense_Mutation_p.P1250L NM_005120.2 NP_005111.2 Q93074 MED12_HUMAN mediator complex subunit 12 1250 androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3) 420 Renal(35;0.156) GAAGAACTTCCAGAGGAGGAG 0.577000 """M, S""" uterine leiomyoma Opitz-Kaveggia Syndrome OREG0019857 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 10 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1266767 1266767 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:1266767C>T ENST00000447027.1 + 31 8724 c.8666C>T c.(8665-8667)cCc>cTc p.P2889L RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.P2886L Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 2886 7 X Cys-rich subdomain repeats.|Thr-rich. Missing (in Ref. 6; AAB61398). cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) TACAGCTACCCCATGCCGGGG 0.677000 22 46 0 0 1 0 0 MYEF2 50804 broad.mit.edu 37 15 48470331 48470331 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr15:48470331G>A ENST00000324324.7 - 1 383 c.104C>T c.(103-105)cCc>cTc p.P35L MYEF2_ENST00000267836.6_Missense_Mutation_p.P35L NM_016132.3 NP_057216.2 Q9P2K5 MYEF2_HUMAN myelin expression factor 2 35 transcription, DNA-dependent Golgi apparatus|nucleus DNA binding|nucleotide binding|RNA binding endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 31 all_lung(180;0.00217) all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07) CGCCTCCGCGGGGTGCGGCTC 0.716000 3 4 0 0 1 0 0 DRAXIN 374946 broad.mit.edu 37 1 11775176 11775176 + Splice_Site SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:11775176G>A ENST00000294485.5 + 6 983 c.847_splice c.e6-1 p.G283_splice NM_198545.3 NP_940947.3 dorsal inhibitory axon guidance protein GTGTTGGCAGGGACTTGCTGC 0.602000 26 31 0 0 1 0 0 CBX6 23466 broad.mit.edu 37 22 39263055 39263055 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr22:39263055G>A ENST00000407418.3 - 5 521 c.398C>T c.(397-399)cCc>cTc p.P133L CBX6_ENST00000216083.6_Missense_Mutation_p.P115L O95503 CBX6_HUMAN chromobox homolog 6 133 chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent PcG protein complex large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 6 Melanoma(58;0.04) GCGGGGCAGGGGACGGCGGGA 0.711000 9 10 0 0 1 0 0 ITGA2B 3674 broad.mit.edu 37 17 42458336 42458336 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:42458336G>A ENST00000262407.5 - 13 1335 c.1304C>T c.(1303-1305)tCc>tTc p.S435F ITGA2B_ENST00000377068.3_Missense_Mutation_p.S120F|ITGA2B_ENST00000353281.4_Missense_Mutation_p.S435F NM_000419.3 NP_000410.2 P08514 ITA2B_HUMAN integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) 435 axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation integrin complex|platelet alpha granule membrane identical protein binding|receptor activity biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.191) Tirofiban(DB00775) CAGGACCTGGGAGGGACGTGA 0.642000 21 56 0 0 1 0 0 MORN4 118812 broad.mit.edu 37 10 99376133 99376133 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:99376133G>A ENST00000335628.3 - 4 501 c.502C>T c.(502-504)Ccc>Tcc p.P168S PI4K2A_ENST00000370649.3_Intron|MORN4_ENST00000307450.6_Missense_Mutation_p.P110S|MORN4_ENST00000478953.1_3'UTR|PI4K2A_ENST00000555577.1_Intron Q8NDC4 MORN4_HUMAN MORN repeat containing 4 110 large_intestine(1)|lung(1)|stomach(2) 4 TCATTGCGGGGGATTCCATGA 0.498000 15 37 0 0 1 0 0 COL11A1 1301 broad.mit.edu 37 1 103483419 103483419 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:103483419C>T ENST00000358392.2 - 11 1723 c.1406G>A c.(1405-1407)gGt>gAt p.G469D COL11A1_ENST00000512756.1_Missense_Mutation_p.G341D|COL11A1_ENST00000370096.3_Missense_Mutation_p.G457D|COL11A1_ENST00000353414.4_Missense_Mutation_p.G418D NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 457 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) GCCTTGTAGACCTGGAGGACC 0.403000 19 71 0 0 1 0 0 RTN4RL1 146760 broad.mit.edu 37 17 1840275 1840275 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:1840275G>A ENST00000331238.5 - 2 859 c.841C>T c.(841-843)Ccc>Tcc p.P281S NM_178568.2 NP_848663.1 Q86UN2 R4RL1_HUMAN reticulon 4 receptor-like 1 281 LRRCT. axon regeneration anchored to plasma membrane receptor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1) 11 GACACACAGGGGACAGCGGAG 0.682000 3 10 0 0 1 0 0 PTPN18 26469 broad.mit.edu 37 2 131117186 131117186 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:131117186C>T ENST00000175756.5 + 5 482 c.381C>T c.(379-381)atC>atT p.I127I PTPN18_ENST00000420717.1_3'UTR|PTPN18_ENST00000347849.3_Intron NM_014369.3 NP_055184.2 Q99952 PTN18_HUMAN protein tyrosine phosphatase, non-receptor type 18 (brain-derived) 127 Tyrosine-protein phosphatase. cytoplasm|nucleus non-membrane spanning protein tyrosine phosphatase activity endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1) 15 Colorectal(110;0.1) TCTAGGTGATCCTGATGGCCT 0.587000 8 30 0 0 1 0 0 LLGL2 3993 broad.mit.edu 37 17 73565309 73565309 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:73565309C>T ENST00000392550.3 + 14 1601 c.1484C>T c.(1483-1485)tCc>tTc p.S495F LLGL2_ENST00000167462.5_Missense_Mutation_p.S495F|LLGL2_ENST00000577200.1_Missense_Mutation_p.S495F NM_001031803.1 NP_001026973.1 Q6P1M3 L2GL2_HUMAN lethal giant larvae homolog 2 (Drosophila) 495 cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity cytoplasm|intracellular membrane-bounded organelle PDZ domain binding NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246) all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112) CAGGTGGGCTCCTTTGACCCC 0.657000 25 53 0 0 1 0 0 SPINK5 11005 broad.mit.edu 37 5 147513428 147513428 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:147513428C>T ENST00000359874.3 + 33 3327 c.3254C>T c.(3253-3255)aCc>aTc p.T1085I SPINK5_ENST00000256084.7_Missense_Mutation_p.T1055I NM_001127698.1 NP_001121170.1 Q9NQ38 ISK5_HUMAN serine peptidase inhibitor, Kazal type 5 1055 anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm serine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2) 64 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCAGGAACCACCGCAGCCAGC 0.512000 21 38 0 0 1 0 0 LDB3 11155 broad.mit.edu 37 10 88441437 88441437 + Missense_Mutation SNP C C T rs45487699 TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:88441437C>T ENST00000429277.2 + 5 711 c.566C>T c.(565-567)tCg>tTg p.S189L LDB3_ENST00000263066.6_Intron|LDB3_ENST00000361373.4_Missense_Mutation_p.S189L|LDB3_ENST00000372066.3_Intron|LDB3_ENST00000542786.1_Missense_Mutation_p.S189L|LDB3_ENST00000458213.2_Intron|LDB3_ENST00000352360.5_Intron|LDB3_ENST00000310944.6_Missense_Mutation_p.S189L|LDB3_ENST00000372056.4_Missense_Mutation_p.S189L NM_001171610.1 NP_001165081.1 O75112 LDB3_HUMAN LIM domain binding 3 189 S -> L (in CMD1C; dbSNP:rs45487699). cytoskeleton|perinuclear region of cytoplasm|pseudopodium zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1) 25 CTGCCGGGCTCGAGCCAGCCG 0.672000 29 41 0 0 1 0 0 GFPT2 9945 broad.mit.edu 37 5 179731940 179731940 + Splice_Site SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:179731940C>T ENST00000253778.8 - 17 1844 c.e17-1 NM_005110.2 NP_005101.1 O94808 GFPT2_HUMAN glutamine-fructose-6-phosphate transaminase 2 dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process cytosol glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 34 all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137) Medulloblastoma(196;0.0392)|all_neural(177;0.0529) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) L-Glutamine(DB00130) CTTTAATTTTCTGGAAACAGG 0.547000 42 72 0 0 1 0 0 KIF13A 63971 broad.mit.edu 37 6 17781111 17781111 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr6:17781111G>A ENST00000378814.5 - 30 3656 c.3657C>T c.(3655-3657)tcC>tcT p.S1219S KIF13A_ENST00000378816.5_Silent_p.S1232S|KIF13A_ENST00000378826.2_Silent_p.S1232S|KIF13A_ENST00000378843.2_Silent_p.S1219S|KIF13A_ENST00000259711.6_Silent_p.S1232S NM_001105568.2 NP_001099038.1 Q9H1H9 KI13A_HUMAN kinesin family member 13A 1232 cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane ATP binding|microtubule motor activity|protein binding breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 Breast(50;0.0107)|Ovarian(93;0.016) all_hematologic(90;0.125) all cancers(50;0.0865)|Epithelial(50;0.0974) CATGCACCGAGGAATCCCAAG 0.448000 24 15 0 0 1 0 0 ROS1 6098 broad.mit.edu 37 6 117718196 117718196 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr6:117718196G>A ENST00000368508.3 - 7 859 c.661C>T c.(661-663)Cca>Tca p.P221S ROS1_ENST00000368507.3_Missense_Mutation_p.P230S|GOPC_ENST00000467125.1_Intron NM_002944.2 NP_002935.2 P08922 ROS_HUMAN c-ros oncogene 1 , receptor tyrosine kinase 221 Fibronectin type-III 2. transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) GGTCCACCTGGGAATTGAGGT 0.428000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 61 36 0 0 1 0 0 DDX46 9879 broad.mit.edu 37 5 134153240 134153240 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:134153240C>T ENST00000452510.2 + 20 2826 c.2668C>T c.(2668-2670)Ccc>Tcc p.P890S DDX46_ENST00000354283.4_Missense_Mutation_p.P889S NM_014829.2 NP_055644.2 Q7L014 DDX46_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 46 889 mRNA processing|RNA splicing Cajal body|nuclear speck ATP binding|ATP-dependent helicase activity|RNA binding NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) CATTCTGGCTCCCACTGTTTC 0.438000 12 26 0 0 1 0 0 MS4A5 64232 broad.mit.edu 37 11 60201298 60201298 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:60201298C>T ENST00000300190.2 + 4 486 c.400C>T c.(400-402)Ctc>Ttc p.L134F MS4A5_ENST00000534071.1_3'UTR NM_023945.2 NP_076434.2 Q9H3V2 MS4A5_HUMAN membrane-spanning 4-domains, subfamily A, member 5 134 integral to membrane receptor activity large_intestine(7)|lung(7)|ovary(1)|skin(1) 16 TGGAATCATTCTCCTCACATT 0.368000 42 63 0 0 1 0 0 NPR2 4882 broad.mit.edu 37 9 35800799 35800799 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr9:35800799C>T ENST00000342694.2 + 6 1567 c.1312C>T c.(1312-1314)Ccc>Tcc p.P438S NM_003995.3 NP_003986.2 P20594 ANPRB_HUMAN natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B) 438 intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure integral to membrane|plasma membrane GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 45 all_epithelial(49;0.161) LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194) Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899) GGACAATCCCCCCTGTGCCTT 0.582000 29 17 0 0 1 0 0 TRAF3 7187 broad.mit.edu 37 14 103369698 103369698 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr14:103369698C>T ENST00000560371.1 + 10 1284 c.1067C>T c.(1066-1068)tCc>tTc p.S356F TRAF3_ENST00000539721.1_Missense_Mutation_p.S273F|TRAF3_ENST00000392745.2_Missense_Mutation_p.S356F|TRAF3_ENST00000347662.4_Missense_Mutation_p.S331F|TRAF3_ENST00000351691.5_Missense_Mutation_p.S331F NM_003300.3|NM_145725.2 NP_003291.2|NP_663777.1 Q13114 TRAF3_HUMAN TNF receptor-associated factor 3 356 apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2) 30 all_cancers(154;7.87e-06)|all_epithelial(191;0.0024) Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971) AGCGTGGAGTCCCTCCAGAAC 0.632000 30 53 0 0 1 0 0 IFT80 57560 broad.mit.edu 37 3 159995110 159995110 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:159995110G>A ENST00000326448.7 - 18 2515 c.2083C>T c.(2083-2085)Ctc>Ttc p.L695F IFT80_ENST00000483465.1_Missense_Mutation_p.L558F|IFT80_ENST00000496589.1_Missense_Mutation_p.L558F|RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.L866F NM_020800.2 NP_065851.1 Q9P2H3 IFT80_HUMAN intraflagellar transport 80 homolog (Chlamydomonas) 695 cilium axoneme|microtubule basal body NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 36 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) CAGTTGTAGAGATTAATATTG 0.363000 39 55 0 0 1 0 0 ZNF354A 6940 broad.mit.edu 37 5 178140027 178140027 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:178140027G>A ENST00000335815.2 - 5 1049 c.852C>T c.(850-852)tcC>tcT p.S284S NM_005649.2 NP_005640.2 O60765 Z354A_HUMAN zinc finger protein 354A 284 regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2) 19 all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536) all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) all cancers(165;0.185) GTTTATAAAGGGATGTACTGA 0.378000 32 53 0 0 1 0 0 WBP5 51186 broad.mit.edu 37 X 102612735 102612735 + Silent SNP A A C TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:102612735A>C ENST00000372661.3 + 3 434 c.123A>C c.(121-123)gcA>gcC p.A41A WBP5_ENST00000372656.3_Silent_p.A41A NM_001006612.1|NM_016303.2 NP_001006613.1|NP_057387.1 Q9UHQ7 WPB5_HUMAN WW domain binding protein 5 41 Glu-rich. breast(2)|endometrium(2)|large_intestine(2)|ovary(1)|urinary_tract(1) 8 AGGCCAAAGCAAAAGGAACTT 0.418000 33 44 0 0 1 0 0 OR9A4 130075 broad.mit.edu 37 7 141618868 141618868 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:141618868C>T ENST00000548136.1 + 1 252 c.193C>T c.(193-195)Ctc>Ttc p.L65F MGAM_ENST00000497554.1_Intron NM_001001656.1 NP_001001656.1 Q8NGU2 OR9A4_HUMAN olfactory receptor, family 9, subfamily A, member 4 65 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2) 22 Melanoma(164;0.0171) CCTCGGCCACCTCTCTGCCCT 0.483000 50 123 0 0 1 0 0 PARK7 11315 broad.mit.edu 37 1 8022903 8022903 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:8022903G>A ENST00000493678.1 + 2 125 c.58G>A c.(58-60)Gtc>Atc p.V20I PARK7_ENST00000497113.1_3'UTR|PARK7_ENST00000377488.1_Missense_Mutation_p.V20I|PARK7_ENST00000377491.1_Missense_Mutation_p.V20I|PARK7_ENST00000377493.5_Missense_Mutation_p.V20I|PARK7_ENST00000338639.5_Missense_Mutation_p.V20I Q99497 PARK7_HUMAN parkinson protein 7 20 autophagy|cell death|cellular response to hydrogen peroxide|inflammatory response|mitochondrion organization|negative regulation of cell death|negative regulation of protein binding|neuroprotection|protein stabilization|regulation of androgen receptor signaling pathway|regulation of inflammatory response|single fertilization mitochondrion|nucleus mRNA binding|peptidase activity|peroxidase activity|protein homodimerization activity large_intestine(1) 1 Ovarian(185;0.06)|all_lung(157;0.151) all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;1.28e-70)|GBM - Glioblastoma multiforme(8;3.05e-36)|Colorectal(212;6.83e-08)|COAD - Colon adenocarcinoma(227;7.51e-06)|Kidney(185;5.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000414)|KIRC - Kidney renal clear cell carcinoma(229;0.000967)|STAD - Stomach adenocarcinoma(132;0.00102)|READ - Rectum adenocarcinoma(331;0.0649) AATGGAGACGGTCATCCCTGT 0.363000 45 14 0 0 1 0 0 CNDP1 84735 broad.mit.edu 37 18 72250826 72250826 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr18:72250826G>A ENST00000582365.1 + 10 1276 c.1210G>A c.(1210-1212)Gat>Aat p.D404N CNDP1_ENST00000358821.3_Missense_Mutation_p.D447N Q96KN2 CNDP1_HUMAN carnosine dipeptidase 1 (metallopeptidase M20 family) 447 proteolysis extracellular region carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211) BRCA - Breast invasive adenocarcinoma(31;0.109) TATGATCCGGGATGGATCCAC 0.488000 29 52 0 0 1 0 0 SLC6A1 6529 broad.mit.edu 37 3 11067193 11067193 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:11067193G>A ENST00000287766.4 + 8 1194 c.773G>A c.(772-774)gGa>gAa p.G258E SLC6A1_ENST00000536032.1_Missense_Mutation_p.G80E NM_003042.3 NP_003033.3 P30531 SC6A1_HUMAN solute carrier family 6 (neurotransmitter transporter), member 1 258 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 26 Ovarian(110;0.0392) OV - Ovarian serous cystadenocarcinoma(96;0.00099) Cocaine(DB00907)|Tiagabine(DB00906) TTCTTCCGTGGAGTGACGCTG 0.582000 12 33 0 0 1 0 0 MYO5C 55930 broad.mit.edu 37 15 52517151 52517151 + Missense_Mutation SNP T T G TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr15:52517151T>G ENST00000261839.7 - 28 3554 c.3393A>C c.(3391-3393)ttA>ttC p.L1131F NM_018728.3 NP_061198.2 Q9NQX4 MYO5C_HUMAN myosin VC 1131 myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 all cancers(107;0.0137) CATCCTCATTTAAATGTTCCA 0.338000 24 31 0 0 1 0 0 OR8B2 26595 broad.mit.edu 37 11 124252876 124252876 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:124252876G>A ENST00000375013.2 - 1 382 c.364C>T c.(364-366)Cgc>Tgc p.R122C NM_001005468.1 NP_001005468.1 Q96RD0 OR8B2_HUMAN olfactory receptor, family 8, subfamily B, member 2 122 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1) 23 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;0.0277) GCCACATAGCGATCATATGCC 0.413000 10 28 0 0 1 0 0 OR51V1 283111 broad.mit.edu 37 11 5221712 5221712 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:5221712G>A ENST00000321255.1 - 1 218 c.219C>T c.(217-219)tcC>tcT p.S73S NM_001004760.2 NP_001004760.2 Q9H2C8 O51V1_HUMAN olfactory receptor, family 51, subfamily V, member 1 73 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGGCCAGCATGGACAGGAAGT 0.527000 31 50 0 0 1 0 0 TBC1D26 353149 broad.mit.edu 37 17 15638708 15638708 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:15638708G>A ENST00000437605.2 + 3 296 c.46G>A c.(46-48)Ggc>Agc p.G16S AC005324.6_ENST00000434017.1_RNA|ZNF286A_ENST00000413242.2_Intron|ZNF286A_ENST00000593105.1_3'UTR|TBC1D26_ENST00000579428.1_Missense_Mutation_p.G16S NM_178571.4 NP_848666.2 Q86UD7 TBC26_HUMAN TBC1 domain family, member 26 16 intracellular Rab GTPase activator activity endometrium(1)|large_intestine(1)|lung(4)|skin(1) 7 UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.078) CCAGGGGCAAGGCAATATCAT 0.582000 44 59 0 0 1 0 0 UBR4 23352 broad.mit.edu 37 1 19440289 19440289 + Silent SNP G G T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:19440289G>T ENST00000375267.2 - 77 11364 c.11361C>A c.(11359-11361)tcC>tcA p.S3787S UBR4_ENST00000375218.3_3'UTR|UBR4_ENST00000375254.3_Silent_p.S3787S|UBR4_ENST00000375217.2_Silent_p.S3780S|UBR4_ENST00000375226.2_Silent_p.S3763S Q5T4S7 UBR4_HUMAN ubiquitin protein ligase E3 component n-recognin 4 3787 interspecies interaction between organisms cytoplasm|cytoskeleton|integral to membrane|nucleus calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6) 171 Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256) UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816) TGGCAGAAGTGGAGCTGATGC 0.512000 OREG0013168 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 78 36 1.10345e-40 1.12949e-40 1 1 0 PCDHA13 56136 broad.mit.edu 37 5 140263184 140263184 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:140263184G>A ENST00000289272.2 + 1 1331 c.1331G>A c.(1330-1332)gGg>gAg p.G444E PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.G444E|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron NM_018904.2|NM_031865.1 NP_061727.1|NP_114071.1 NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTGTCGGTGGGGGTGGCCGAC 0.677000 65 100 0 0 1 0 0 SRGAP3 9901 broad.mit.edu 37 3 9055173 9055173 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:9055173C>T ENST00000383836.3 - 17 2393 c.1966G>A c.(1966-1968)Gcc>Acc p.A656T SRGAP3_ENST00000360413.3_Missense_Mutation_p.A632T NM_014850.3 NP_055665.1 O43295 SRGP2_HUMAN SLIT-ROBO Rho GTPase activating protein 3 656 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding SRGAP3/RAF1(6) breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 OV - Ovarian serous cystadenocarcinoma(96;0.0563) AAGCAGATGGCCAGGTTGTAG 0.542000 T RAF1 pilocytic astrocytoma 19 36 0 0 1 0 0 SLC36A2 153201 broad.mit.edu 37 5 150722526 150722526 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:150722526C>T ENST00000335244.4 - 4 492 c.363G>A c.(361-363)atG>atA p.M121I SLC36A2_ENST00000521967.1_Missense_Mutation_p.M121I NM_181776.2 NP_861441.2 Q495M3 S36A2_HUMAN solute carrier family 36 (proton/amino acid symporter), member 2 121 cellular nitrogen compound metabolic process cytoplasm|integral to membrane|plasma membrane glycine transmembrane transporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 33 Medulloblastoma(196;0.109)|all_hematologic(541;0.243) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CCCCATAGTCCATAAAGGGCT 0.498000 25 35 0 0 1 0 0 SLC24A4 123041 broad.mit.edu 37 14 92949034 92949034 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr14:92949034G>A ENST00000532405.1 + 13 1492 c.1266G>A c.(1264-1266)ggG>ggA p.G422G SLC24A4_ENST00000393265.2_Silent_p.G358G|SLC24A4_ENST00000298877.1_Silent_p.G405G|SLC24A4_ENST00000531433.1_Silent_p.G403G|SLC24A4_ENST00000351924.5_Silent_p.G386G Q8NFF2 NCKX4_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 422 integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1) 36 all_cancers(154;0.0347)|all_epithelial(191;0.163) Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182) AGGCCAGAGGGGACAAGGTCA 0.562000 35 50 0 0 1 0 0 TNIP2 79155 broad.mit.edu 37 4 2757795 2757795 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr4:2757795G>A ENST00000315423.7 - 1 308 c.222C>T c.(220-222)ttC>ttT p.F74F TNIP2_ENST00000503235.1_Silent_p.F74F|TNIP2_ENST00000510267.1_5'UTR NM_024309.3 NP_077285.3 Q8NFZ5 TNIP2_HUMAN TNFAIP3 interacting protein 2 74 cytosol protein binding breast(2)|central_nervous_system(1)|large_intestine(4)|lung(6)|prostate(1) 14 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) GCTGCTCCCGGAAGCGCGCAA 0.751000 3 4 0 0 1 0 0 PRDM9 56979 broad.mit.edu 37 5 23526363 23526363 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:23526363C>T ENST00000296682.3 + 11 1348 c.1166C>T c.(1165-1167)cCa>cTa p.P389L NM_020227.2 NP_064612.2 Q9NQV7 PRDM9_HUMAN PR domain containing 9 389 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleoplasm histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11) 172 GAGATCCATCCATGTCCCTCA 0.438000 HNSCC(3;0.000094) 32 54 0 0 1 0 0 CHDH 55349 broad.mit.edu 37 3 53857424 53857424 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:53857424C>T ENST00000315251.5 - 3 1049 c.612G>A c.(610-612)gaG>gaA p.E204E NM_018397.4 NP_060867.2 Q8NE62 CHDH_HUMAN choline dehydrogenase 204 alcohol metabolic process choline dehydrogenase activity|flavin adenine dinucleotide binding NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1) 17 Hepatocellular(537;0.152) BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118) Choline(DB00122) GCTGCGTGGCCTCCAGGAATG 0.682000 6 9 0 0 1 0 0 LONRF2 164832 broad.mit.edu 37 2 100910724 100910724 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:100910724C>T ENST00000393437.3 - 9 2363 c.1724G>A c.(1723-1725)cGg>cAg p.R575Q LONRF2_ENST00000409647.1_Missense_Mutation_p.R332Q NM_198461.3 NP_940863.3 Q1L5Z9 LONF2_HUMAN LON peptidase N-terminal domain and ring finger 2 575 Lon. proteolysis ATP-dependent peptidase activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 34 CATGCCAAACCGCTTGGTGCC 0.502000 22 46 0 0 1 0 0 LRRTM1 347730 broad.mit.edu 37 2 80530927 80530927 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:80530927G>A ENST00000295057.3 - 2 674 c.18C>T c.(16-18)ctC>ctT p.L6L CTNNA2_ENST00000541047.1_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000496558.1_Intron|LRRTM1_ENST00000409148.1_Silent_p.L6L NM_178839.4 NP_849161.2 Q86UE6 LRRT1_HUMAN leucine rich repeat transmembrane neuronal 1 6 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 GACAGAGACCGAGCAGCAGGA 0.567000 HNSCC(69;0.2) 21 35 0 0 1 0 0 CYP2J2 1573 broad.mit.edu 37 1 60375617 60375617 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:60375617G>A ENST00000371204.3 - 5 743 c.700C>T c.(700-702)Cca>Tca p.P234S CYP2J2_ENST00000492633.1_5'UTR NM_000775.2 NP_000766.2 P51589 CP2J2_HUMAN cytochrome P450, family 2, subfamily J, polypeptide 2 234 epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process endoplasmic reticulum membrane|microsome arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1) 26 all_cancers(7;0.000396) ATTATCCATGGAAAGACATTG 0.353000 14 19 0 0 1 0 0 KIAA0319 9856 broad.mit.edu 37 6 24596621 24596621 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr6:24596621C>T ENST00000535378.1 - 4 896 c.254G>A c.(253-255)gGc>gAc p.G85D KIAA0319_ENST00000537886.1_Missense_Mutation_p.G94D|KIAA0319_ENST00000378214.3_Missense_Mutation_p.G94D|KIAA0319_ENST00000430948.2_Missense_Mutation_p.G49D|KIAA0319_ENST00000543707.1_Missense_Mutation_p.G94D NM_001168374.1 NP_001161846.1 Q5VV43 K0319_HUMAN KIAA0319 94 MANSC. negative regulation of dendrite development|neuron migration early endosome membrane|integral to membrane|plasma membrane protein binding breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 53 CCTGATGGGGCCCATCTTCTT 0.602000 25 19 0 0 1 0 0 HEPHL1 341208 broad.mit.edu 37 11 93822041 93822041 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:93822041C>T ENST00000315765.9 + 12 2209 c.2201C>T c.(2200-2202)aCt>aTt p.T734I NM_001098672.1 NP_001092142.1 Q6MZM0 HPHL1_HUMAN hephaestin-like 1 734 Plastocyanin-like 5. copper ion transport integral to membrane copper ion binding|oxidoreductase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 61 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) ATGATAAGAACTTTTTACATC 0.527000 27 48 0 0 1 0 0 CTTNBP2 83992 broad.mit.edu 37 7 117420625 117420625 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:117420625G>A ENST00000160373.3 - 7 2484 c.2393C>T c.(2392-2394)tCa>tTa p.S798L NM_033427.2 NP_219499.1 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 798 breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) AGCATCATATGAAATTAATAA 0.338000 29 59 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228553779 228553779 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:228553779C>T ENST00000570156.2 + 94 22013 c.21939C>T c.(21937-21939)ccC>ccT p.P7313P OBSCN_ENST00000422127.1_Silent_p.P6356P|OBSCN_ENST00000366707.4_Silent_p.P3990P NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 6356 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) TCCCAGGGCCCCCATCCATGC 0.627000 24 18 0 0 1 0 0 GOLGA3 2802 broad.mit.edu 37 12 133393162 133393162 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:133393162G>A ENST00000204726.3 - 3 928 c.370C>T c.(370-372)Ctc>Ttc p.L124F GOLGA3_ENST00000545875.1_Missense_Mutation_p.L124F|GOLGA3_ENST00000537452.1_Missense_Mutation_p.L124F|GOLGA3_ENST00000456883.2_Missense_Mutation_p.L124F|GOLGA3_ENST00000450791.2_Missense_Mutation_p.L124F NM_005895.3 NP_005886.2 Q08378 GOGA3_HUMAN golgin A3 124 Interaction with GOPC. 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) CTGAGTCTGAGAGACTGCAAA 0.542000 60 47 0 0 1 0 0 RP11-542C16.2 0 broad.mit.edu 37 17 7221175 7221175 + Missense_Mutation SNP G G T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:7221175G>T ENST00000575474.1 - 5 577 c.578C>A c.(577-579)cCc>cAc p.P193H NEURL4_ENST00000315614.7_Silent_p.A1377A|NEURL4_ENST00000399464.2_Silent_p.A1379A|NEURL4_ENST00000574120.1_5'UTR|NEURL4_ENST00000570460.1_Silent_p.A1355A TGCGCCTGTGGGCCTCGTCTC 0.582000 31 27 9.65021e-13 9.78196e-13 1 1 0 OR8K1 390157 broad.mit.edu 37 11 56114290 56114290 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:56114290G>A ENST00000279783.2 + 1 870 c.776G>A c.(775-777)gGg>gAg p.G259E NM_001002907.1 NP_001002907.1 Q8NGG5 OR8K1_HUMAN olfactory receptor, family 8, subfamily K, member 1 259 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 33 Esophageal squamous(21;0.00448) ATGTTCTATGGGACATTGTTA 0.403000 HNSCC(65;0.19) 20 36 0 0 1 0 0 PLEC 5339 broad.mit.edu 37 8 144991690 144991690 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:144991690G>A ENST00000322810.4 - 32 12879 c.12710C>T c.(12709-12711)aCc>aTc p.T4237I PLEC_ENST00000527096.1_Missense_Mutation_p.T4123I|PLEC_ENST00000345136.3_Missense_Mutation_p.T4100I|PLEC_ENST00000354589.3_Missense_Mutation_p.T4100I|PLEC_ENST00000354958.2_Missense_Mutation_p.T4078I|PLEC_ENST00000356346.3_Missense_Mutation_p.T4086I|PLEC_ENST00000357649.2_Missense_Mutation_p.T4104I|PLEC_ENST00000436759.2_Missense_Mutation_p.T4127I|PLEC_ENST00000398774.2_Missense_Mutation_p.T4068I NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 4237 Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 CTGCAGGTAGGTGAGGTTCTC 0.587000 32 49 0 0 1 0 0 HRAS 3265 broad.mit.edu 37 11 533830 533830 + Nonsense_Mutation SNP C C A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:533830C>A ENST00000417302.1 - 3 413 c.226G>T c.(226-228)Gag>Tag p.E76* HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397594.1_Nonsense_Mutation_p.E76*|HRAS_ENST00000311189.7_Nonsense_Mutation_p.E76*|HRAS_ENST00000397596.2_Nonsense_Mutation_p.E76*|HRAS_ENST00000451590.1_Nonsense_Mutation_p.E76* NM_176795.3 NP_789765.1 P01112 RASH_HUMAN Harvey rat sarcoma viral oncogene homolog 76 activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission cytosol|Golgi membrane|plasma membrane GTP binding|GTPase activity|protein C-terminus binding adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225) 901 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) Sulindac(DB00605) AGGAAGCCCTCCCCGGTGCGC 0.617000 6 Mis """infrequent sarcomas, rare other types""" """rhadomyosarcoma, ganglioneuroblastoma, bladder""" Costello syndrome HNSCC(11;0.0054) 35 64 9.04072e-19 9.2201e-19 1 1 0 DSP 1832 broad.mit.edu 37 6 7571787 7571787 + Nonsense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr6:7571787C>T ENST00000379802.3 + 14 2214 c.1873C>T c.(1873-1875)Cag>Tag p.Q625* DSP_ENST00000418664.2_Nonsense_Mutation_p.Q625* NM_004415.2 NP_004406.2 P15924 DESP_HUMAN desmoplakin 625 Globular 1. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) CCTGGTCATTCAGCTCCCTGG 0.468000 46 24 0 0 1 0 0 ITK 3702 broad.mit.edu 37 5 156608056 156608056 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:156608056C>T ENST00000422843.3 + 1 220 c.68C>T c.(67-69)cCc>cTc p.P23L NM_005546.3 NP_005537.3 Q08881 ITK_HUMAN IL2-inducible T-cell kinase 23 PH. P -> L (in a metastatic melanoma sample; somatic mutation). cellular defense response|intracellular signal transduction|T cell receptor signaling pathway cytosol|plasma membrane ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding p.P23L(1) breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 70 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.1) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) AGAACTTCTCCCTCGAACTTT 0.433000 T SYK peripheral T-cell lymphoma 38 74 0 0 1 0 0 MCCC1 56922 broad.mit.edu 37 3 182790237 182790237 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:182790237C>T ENST00000492597.1 - 4 783 c.81G>A c.(79-81)atG>atA p.M27I MCCC1_ENST00000265594.4_Missense_Mutation_p.M136I|MCCC1_ENST00000539926.1_Start_Codon_SNP_p.M1I Q96RQ3 MCCA_HUMAN methylcrotonoyl-CoA carboxylase 1 (alpha) 136 biotin metabolic process|leucine catabolic process mitochondrial inner membrane|mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2) 40 all_cancers(143;1.84e-14)|Ovarian(172;0.0355) all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21) Biotin(DB00121) CAGCAAATTCCATGTTTTCTG 0.358000 18 24 0 0 1 0 0 ARHGAP5 394 broad.mit.edu 37 14 32563456 32563456 + Missense_Mutation SNP G G A rs149893615 TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr14:32563456G>A ENST00000345122.3 + 2 3896 c.3581G>A c.(3580-3582)gGa>gAa p.G1194E ARHGAP5_ENST00000539826.2_Missense_Mutation_p.G1194E|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.G1194E|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.G1194E NM_001030055.1 NP_001025226.1 Q13017 RHG05_HUMAN Rho GTPase activating protein 5 1194 cell adhesion|Rho protein signal transduction cytosol|membrane GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4) 55 Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00566) AGACATCGTGGAAGTGAAGAA 0.383000 44 62 0 0 1 0 0 PCDHGA10 56106 broad.mit.edu 37 5 140793084 140793084 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:140793084G>A ENST00000398610.2 + 1 342 c.342G>A c.(340-342)gtG>gtA p.V114V PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018913.2|NM_032090.1 NP_061736.1|NP_114479.1 breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATATCCTTGTGGAAGACAGGG 0.478000 32 54 0 0 1 0 0 MAP4K3 8491 broad.mit.edu 37 2 39552766 39552766 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:39552766G>A ENST00000263881.3 - 12 1135 c.811C>T c.(811-813)Cct>Tct p.P271S MAP4K3_ENST00000536018.1_5'UTR|MAP4K3_ENST00000437545.1_Missense_Mutation_p.P208S|MAP4K3_ENST00000341681.5_Missense_Mutation_p.P271S NM_003618.3 NP_003609.2 Q8IVH8 M4K3_HUMAN mitogen-activated protein kinase kinase kinase kinase 3 271 Protein kinase. JNK cascade ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 all_hematologic(82;0.211) GTTACAAAAGGATGCTATAAA 0.289000 17 30 0 0 1 0 0 MYO16 23026 broad.mit.edu 37 13 109792740 109792740 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr13:109792740G>A ENST00000356711.2 + 32 4240 c.4114G>A c.(4114-4116)Ggg>Agg p.G1372R MYO16_ENST00000357550.2_Missense_Mutation_p.G1372R NM_015011.1 NP_055826.1 Q9Y6X6 MYO16_HUMAN myosin XVI 1372 cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 121 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) GTcccggcccggggacgcgag 0.721000 15 9 0 0 1 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144852491 144852491 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:144852491G>A ENST00000369359.4 - 47 7454 c.7416C>T c.(7414-7416)tcC>tcT p.S2472S PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Silent_p.S2230S|PDE4DIP_ENST00000530740.1_Silent_p.S2421S|PDE4DIP_ENST00000369354.3_Silent_p.S2336S Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 2336 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) GAGCCCTTAGGGATTTCACCT 0.507000 T PDGFRB MPD 5 26 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1263793 1263793 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:1263793G>A ENST00000447027.1 + 31 5750 c.5692G>A c.(5692-5694)Gcc>Acc p.A1898T RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.A1895T Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 1895 11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CAGCTCCACGGCCACGCCCTC 0.617000 34 62 0 0 1 0 0 GLYR1 84656 broad.mit.edu 37 16 4867664 4867664 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr16:4867664C>T ENST00000321919.9 - 10 917 c.841G>A c.(841-843)Gga>Aga p.G281R GLYR1_ENST00000591451.1_Missense_Mutation_p.G281R|GLYR1_ENST00000381983.3_Missense_Mutation_p.G264R|GLYR1_ENST00000436648.5_Missense_Mutation_p.G200R NM_032569.3 NP_115958.2 Q49A26 GLYR1_HUMAN glyoxylate reductase 1 homolog (Arabidopsis) 281 pentose-phosphate shunt nucleus coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1) 19 GAGACGATTCCACTTCCCATG 0.502000 48 63 0 0 1 0 0 COL6A6 131873 broad.mit.edu 37 3 130368167 130368167 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:130368167C>T ENST00000358511.6 + 32 5525 c.5494C>T c.(5494-5496)Cct>Tct p.P1832S COL6A6_ENST00000453409.2_Missense_Mutation_p.P1832S NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 1832 Nonhelical region.|VWFA 8. axon guidance|cell adhesion collagen NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 TGAAACTATTCCTTATGAGAG 0.512000 6 14 0 0 1 0 0 SLC52A3 113278 broad.mit.edu 37 20 744617 744617 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr20:744617G>A ENST00000381944.3 - 3 839 c.598C>T c.(598-600)Ccc>Tcc p.P200S SLC52A3_ENST00000473664.1_Intron|SLC52A3_ENST00000217254.7_Missense_Mutation_p.P200S Q9NQ40 RFT2_HUMAN solute carrier family 52 (riboflavin transporter), member 3 200 sensory perception of sound integral to plasma membrane riboflavin transporter activity TCCATTCCGGGGAGGGCGGAC 0.582000 5 12 0 0 1 0 0 MTUS2 23281 broad.mit.edu 37 13 29898813 29898813 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr13:29898813G>A ENST00000431530.3 + 5 2958 c.2900G>A c.(2899-2901)aGa>aAa p.R967K NM_001033602.2 NP_001028774.2 Q5JR59 MTUS2_HUMAN microtubule associated tumor suppressor candidate 2 957 Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1. cytoplasm|microtubule microtubule binding|protein homodimerization activity NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1) 20 TCTCCTAAGAGAGTAGCAGCT 0.373000 3 5 0 0 1 0 0 YJEFN3 374887 broad.mit.edu 37 19 19646390 19646390 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:19646390C>T ENST00000555938.1 + 7 605 c.593C>T c.(592-594)cCc>cTc p.P198L YJEFN3_ENST00000514277.3_Missense_Mutation_p.P199L|YJEFN3_ENST00000436027.4_Missense_Mutation_p.P149L GTACTGGGCCCCGGCGTGGAG 0.701000 8 16 0 0 1 0 0 RPAP3 79657 broad.mit.edu 37 12 48090187 48090187 + Splice_Site SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:48090187C>T ENST00000005386.3 - 5 533 c.e5-1 RPAP3_ENST00000380650.4_Splice_Site|RPAP3_ENST00000432584.3_Splice_Site NM_024604.2 NP_078880.2 Q9H6T3 RPAP3_HUMAN RNA polymerase II associated protein 3 binding endometrium(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 16 Lung SC(27;0.192) ATTTATTGCCCTGAAAGAAAA 0.368000 8 24 0 0 1 0 0 PAK4 10298 broad.mit.edu 37 19 39660313 39660313 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:39660313G>A ENST00000599386.1 + 3 301 c.120G>A c.(118-120)caG>caA p.Q40Q PAK4_ENST00000599470.1_Silent_p.Q40Q|PAK4_ENST00000435673.2_Silent_p.Q40Q|PAK4_ENST00000321944.4_Silent_p.Q40Q|PAK4_ENST00000593690.1_Silent_p.Q40Q|PAK4_ENST00000360442.3_Silent_p.Q40Q|PAK4_ENST00000358301.3_Silent_p.Q40Q NM_001014835.1 NP_001014835.1 O96013 PAK4_HUMAN p21 protein (Cdc42/Rac)-activated kinase 4 40 Linker. cellular component movement|signal transduction Golgi apparatus ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1) 13 all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454) Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113) GCCAGTGGCAGAGCCTGATCG 0.697000 28 30 0 0 1 0 0 FBXO44 93611 broad.mit.edu 37 1 11716069 11716069 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:11716069G>A ENST00000376770.1 + 3 675 c.177G>A c.(175-177)gaG>gaA p.E59E FBXO44_ENST00000376768.1_Silent_p.E59E|FBXO44_ENST00000251546.4_Silent_p.E59E|FBXO44_ENST00000376760.1_Silent_p.E59E|FBXO44_ENST00000251547.5_Silent_p.E59E|FBXO44_ENST00000376762.4_Silent_p.E59E NM_001014765.1 NP_001014765.1 Q9H4M3 FBX44_HUMAN F-box protein 44 59 protein catabolic process SCF ubiquitin ligase complex protein binding kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1) 8 Ovarian(185;0.249) Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649) TCATCACTGAGGACTGGGACC 0.617000 19 76 0 0 1 0 0 TMEM119 338773 broad.mit.edu 37 12 108985354 108985354 + Missense_Mutation SNP G G A rs143295982 TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:108985354G>A ENST00000392806.3 - 2 974 c.806C>T c.(805-807)cCc>cTc p.P269L NM_181724.2 NP_859075.2 Q4V9L6 TM119_HUMAN transmembrane protein 119 269 integral to membrane large_intestine(2)|lung(3)|ovary(1)|skin(1) 7 GCTTTCGGGGGGACCCACTGG 0.667000 54 135 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179606173 179606173 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:179606173C>T ENST00000589042.1 - 48 12011 c.11787G>A c.(11785-11787)ctG>ctA p.L3929L TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Silent_p.L3612L|TTN_ENST00000359218.5_Silent_p.L3691L|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Silent_p.L3758L|TTN_ENST00000460472.2_Silent_p.L3566L|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 3612 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) CCAGCTTTTCCAGAGATTTTG 0.433000 63 95 0 0 1 0 0 DNAH11 8701 broad.mit.edu 37 7 21640716 21640716 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:21640716C>T ENST00000328843.6 + 17 3375 c.3344C>T c.(3343-3345)cCt>cTt p.P1115L DNAH11_ENST00000409508.3_Missense_Mutation_p.P1115L Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 1115 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 GACATGAAGCCTTTCAAAGTG 0.363000 Kartagener syndrome 32 21 0 0 1 0 0 GPRC5A 9052 broad.mit.edu 37 12 13061788 13061788 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:13061788C>T ENST00000014914.5 + 2 1495 c.605C>T c.(604-606)tCc>tTc p.S202F GPRC5A_ENST00000542056.1_Intron NM_003979.3 NP_003970.1 Q8NFJ5 RAI3_HUMAN G protein-coupled receptor, family C, group 5, member A 202 cytoplasmic vesicle membrane|Golgi apparatus|integral to plasma membrane G-protein coupled receptor activity breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 18 Prostate(47;0.141) BRCA - Breast invasive adenocarcinoma(232;0.0708) Tretinoin(DB00755) TTCTGTGGTTCCTTCACGGGC 0.567000 66 107 0 0 1 0 0 DPY19L2P2 349152 broad.mit.edu 37 7 102898139 102898139 + RNA SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:102898139C>T ENST00000312132.4 - 0 2433 TCACTATTCCCATGAATGTGC 0.328000 46 55 0 0 1 0 0 PCBP3 54039 broad.mit.edu 37 21 47349871 47349871 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr21:47349871C>T ENST00000400314.1 + 12 1096 c.758C>T c.(757-759)cCc>cTc p.P253L PCBP3_ENST00000400309.1_Missense_Mutation_p.P252L|PCBP3_ENST00000400304.1_Missense_Mutation_p.P243L|PCBP3_ENST00000400310.1_Missense_Mutation_p.P253L|PCBP3_ENST00000449640.1_Missense_Mutation_p.P253L|PRED62_ENST00000593412.1_Intron|PCBP3_ENST00000400308.1_Missense_Mutation_p.P227L|PCBP3_ENST00000468429.1_3'UTR P57721 PCBP3_HUMAN poly(rC) binding protein 3 253 mRNA metabolic process cytosol|mitochondrion|nucleus|ribonucleoprotein complex DNA binding|RNA binding biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 17 all_hematologic(128;0.24) Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649) CAGCAAACCCCCTTTCCTCCC 0.552000 66 23 0 0 1 0 0 FRMPD2 143162 broad.mit.edu 37 10 49431286 49431286 + Missense_Mutation SNP T T A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:49431286T>A ENST00000374201.3 - 11 1498 c.1196A>T c.(1195-1197)gAa>gTa p.E399V FRMPD2_ENST00000407470.4_Missense_Mutation_p.E368V|FRMPD2_ENST00000305531.3_Missense_Mutation_p.E375V NM_001018071.3 NP_001018081.3 Q68DX3 FRPD2_HUMAN FERM and PDZ domain containing 2 399 FERM. tight junction assembly basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction 1-phosphatidylinositol binding|protein binding NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 66 Kidney(211;0.201) CAATCTGGTTTCACTGTCCAG 0.458000 30 28 0 0 1 0 0 TMEM194A 23306 broad.mit.edu 37 12 57464648 57464648 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:57464648C>T ENST00000300128.4 - 3 304 c.281G>A c.(280-282)cGa>cAa p.R94Q TMEM194A_ENST00000379391.3_Missense_Mutation_p.R94Q|TMEM194A_ENST00000553654.1_5'UTR NM_001130963.1 NP_001124435.1 O14524 T194A_HUMAN transmembrane protein 194A 94 integral to membrane endometrium(3)|large_intestine(3)|lung(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 CTGGGTGACTCGAACCAATCT 0.343000 17 34 0 0 1 0 0 ZNF683 257101 broad.mit.edu 37 1 26691179 26691179 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:26691179C>T ENST00000436292.1 - 4 978 c.858G>A c.(856-858)ctG>ctA p.L286L ZNF683_ENST00000349618.3_Silent_p.L286L|ZNF683_ENST00000374204.1_Silent_p.L286L|ZNF683_ENST00000403843.1_Silent_p.L286L Q8IZ20 ZN683_HUMAN zinc finger protein 683 286 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1) 15 all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233) CACCACGCTCCAGGCCTGGGG 0.612000 20 67 0 0 1 0 0 EIF3L 51386 broad.mit.edu 37 22 38251636 38251636 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr22:38251636C>T ENST00000412331.2 + 4 940 c.358C>T c.(358-360)Cca>Tca p.P120S EIF3L_ENST00000381683.6_Missense_Mutation_p.P120S|EIF3L_ENST00000406934.1_Intron|EIF3L_ENST00000476955.1_Intron NM_016091.3 NP_057175.1 Q9Y262 EIF3L_HUMAN eukaryotic translation initiation factor 3, subunit L 120 eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 AGCCATTGCTCCACAGGTTGG 0.443000 13 19 0 0 1 0 0 TRAV9-1 28678 broad.mit.edu 37 14 22280042 22280042 + RNA SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr14:22280042G>A ENST00000390431.3 + 0 231 ACAAGGGAAGGAACAAAGGTT 0.463000 16 22 0 0 1 0 0 GABRB3 2562 broad.mit.edu 37 15 27017885 27017885 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr15:27017885C>T ENST00000541819.2 - 3 385 c.283G>A c.(283-285)Gag>Aag p.E95K GABRB3_ENST00000311550.5_Missense_Mutation_p.E39K|GABRB3_ENST00000299267.4_Missense_Mutation_p.E39K|GABRB3_ENST00000557641.1_5'UTR P28472 GBRB3_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 3 39 synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 68 all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232) all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243) Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) TCCACCGTCTCCTTCACAAAG 0.662000 5 13 0 0 1 0 0 SPTAN1 6709 broad.mit.edu 37 9 131362396 131362396 + Splice_Site SNP T T G TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr9:131362396T>G ENST00000372739.3 + 27 3689 c.e27+2 SPTAN1_ENST00000372731.4_Splice_Site|SPTAN1_ENST00000358161.5_Splice_Site NM_001130438.2 NP_001123910.1 Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 87 CCGTGGAAGGTAAGAACTCCT 0.403000 37 14 0 0 1 0 0 VRTN 55237 broad.mit.edu 37 14 74825106 74825106 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr14:74825106C>T ENST00000256362.4 + 2 1861 c.1620C>T c.(1618-1620)gcC>gcT p.A540A NM_018228.2 NP_060698.2 Q9H8Y1 VRTN_HUMAN vertebrae development associated 540 transposition, DNA-mediated DNA binding|transposase activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1) 41 CACCTTCTGCCTTTTGGGTCT 0.662000 40 79 0 0 1 0 0 TDP1 55775 broad.mit.edu 37 14 90485694 90485694 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr14:90485694G>A ENST00000335725.4 + 15 1826 c.1576G>A c.(1576-1578)Gag>Aag p.E526K TDP1_ENST00000357382.3_Missense_Mutation_p.E287K|TDP1_ENST00000393452.3_Missense_Mutation_p.E526K|TDP1_ENST00000393454.2_Missense_Mutation_p.E526K|TDP1_ENST00000555880.1_Missense_Mutation_p.E526K NM_018319.3 NP_060789.2 Q9NUW8 TYDP1_HUMAN tyrosyl-DNA phosphodiesterase 1 526 cell death|double-strand break repair|single strand break repair cytoplasm|nucleus 3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1) 25 all_cancers(154;0.185) COAD - Colon adenocarcinoma(157;0.23) GGGAGCATTGGAGAAGAATGG 0.542000 Repair of DNA-protein crosslinks 11 28 0 0 1 0 0 HIST1H4E 8367 broad.mit.edu 37 6 26205038 26205038 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr6:26205038C>T ENST00000360441.4 + 1 181 c.166C>T c.(166-168)Cgc>Tgc p.R56C NM_003545.3 NP_003536.1 P62805 H4_HUMAN histone cluster 1, H4e 56 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(2) 18 all_hematologic(11;0.196) CGAGGAGACTCGCGGGGTTCT 0.557000 34 39 0 0 1 0 0 ZNF80 7634 broad.mit.edu 37 3 113955834 113955834 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:113955834G>A ENST00000482457.2 - 1 591 c.88C>T c.(88-90)Cat>Tat p.H30Y NM_007136.3 NP_009067.2 P51504 ZNF80_HUMAN zinc finger protein 80 30 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2) 32 Lung NSC(201;0.0233)|all_neural(597;0.0837) TCACATTCATGGAGATTGTCT 0.502000 29 52 0 0 1 0 0 UGT2B7 7364 broad.mit.edu 37 4 69962911 69962911 + Missense_Mutation SNP G G A rs146308452 byFrequency TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr4:69962911G>A ENST00000305231.7 + 1 719 c.673G>A c.(673-675)Gaa>Aaa p.E225K UGT2B7_ENST00000509763.1_Intron|UGT2B7_ENST00000508661.1_Missense_Mutation_p.E225K NM_001074.2 NP_001065.2 P16662 UD2B7_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B7 225 lipid metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity p.E225K(1) autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 CTTTTGGTTCGAAATATTTGA 0.318000 17 46 0 0 1 0 0 PTPRF 5792 broad.mit.edu 37 1 44069771 44069771 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:44069771C>T ENST00000359947.4 + 16 3288 c.2948C>T c.(2947-2949)aCt>aTt p.T983I PTPRF_ENST00000372414.3_Missense_Mutation_p.T983I|PTPRF_ENST00000372413.3_Missense_Mutation_p.T974I|PTPRF_ENST00000422171.2_Missense_Mutation_p.T331I|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000438120.1_Missense_Mutation_p.T974I NM_002840.3 NP_002831.2 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 983 Fibronectin type-III 7. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3) 72 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) CCAGACACCACTTACGACATC 0.587000 17 66 0 0 1 0 0 ZNF521 25925 broad.mit.edu 37 18 22806772 22806772 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr18:22806772C>T ENST00000361524.3 - 4 1258 c.1110G>A c.(1108-1110)atG>atA p.M370I ZNF521_ENST00000584787.1_Missense_Mutation_p.M150I|ZNF521_ENST00000538137.2_Missense_Mutation_p.M370I NM_015461.2 NP_056276.1 Q96K83 ZN521_HUMAN zinc finger protein 521 370 cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 149 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) CAGCTTCCACCATGGTTGAGC 0.552000 T PAX5 ALL 16 46 0 0 1 0 0 GANC 2595 broad.mit.edu 37 15 42635341 42635341 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr15:42635341G>A ENST00000318010.8 + 19 2458 c.2218G>A c.(2218-2220)Gga>Aga p.G740R NM_198141.2 NP_937784.2 Q8TET4 GANC_HUMAN glucosidase, alpha; neutral C 740 carbohydrate metabolic process carbohydrate binding|maltose alpha-glucosidase activity breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153) GBM - Glioblastoma multiforme(94;1.06e-06) GTTTCTTCCAGGATCAAATGA 0.373000 11 25 0 0 1 0 0 FABP4 2167 broad.mit.edu 37 8 82395376 82395376 + Nonsense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:82395376C>T ENST00000256104.4 - 1 122 c.27G>A c.(25-27)tgG>tgA p.W9* RP11-157I4.4_ENST00000524085.2_RNA|FABP4_ENST00000518669.1_5'UTR NM_001442.2 NP_001433.1 P15090 FABP4_HUMAN fatty acid binding protein 4, adipocyte 9 triglyceride catabolic process cytoplasm|nucleus|soluble fraction fatty acid binding|protein binding|transporter activity breast(2)|central_nervous_system(1)|large_intestine(1)|ovary(1)|skin(1) 6 Epithelial(68;0.213) AGACAAGTTTCCAGGTACCTA 0.378000 8 21 0 0 1 0 0 MAST4 375449 broad.mit.edu 37 5 66461411 66461411 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:66461411C>T ENST00000404260.3 + 29 6721 c.6413C>T c.(6412-6414)cCg>cTg p.P2138L MAST4_ENST00000261569.7_Missense_Mutation_p.P1941L|MAST4_ENST00000403625.2_Missense_Mutation_p.P2135L|MAST4_ENST00000405643.1_Missense_Mutation_p.P1956L|MAST4_ENST00000403666.1_Missense_Mutation_p.P1946L O15021 MAST4_HUMAN microtubule associated serine/threonine kinase family member 4 2138 Pro-rich. cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) AGCATCCCTCCGCCCCCTCTG 0.602000 6 17 0 0 1 0 0 SSX1 6756 broad.mit.edu 37 X 48116746 48116746 + Splice_Site SNP G G A rs139158089 TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:48116746G>A ENST00000376919.3 + 2 205 c.e2+1 NM_001278691.1|NM_005635.2 NP_001265620.1|NP_005626.1 Q16384 SSX1_HUMAN synovial sarcoma, X breakpoint 1 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|transcription corepressor activity SS18/SSX1(1169)|SS18L1/SSX1(2) endometrium(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1) 9 GAGAAGCAAGGTGACGTGACC 0.567000 T SS18 synovial sarcoma 14 22 0 0 1 0 0 TRPM7 54822 broad.mit.edu 37 15 50923674 50923674 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr15:50923674G>A ENST00000313478.7 - 10 1425 c.1144C>T c.(1144-1146)Cat>Tat p.H382Y TRPM7_ENST00000560955.1_Missense_Mutation_p.H382Y NM_017672.4 NP_060142.3 Q96QT4 TRPM7_HUMAN transient receptor potential cation channel, subfamily M, member 7 382 cell death integral to membrane ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3) 52 all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045) GACCCAATATGGAAAACAGTG 0.289000 11 42 0 0 1 0 0 NFATC1 4772 broad.mit.edu 37 18 77170749 77170749 + Missense_Mutation SNP T T A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr18:77170749T>A ENST00000253506.5 + 2 843 c.474T>A c.(472-474)agT>agA p.S158R NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000542384.1_Missense_Mutation_p.S158R|NFATC1_ENST00000427363.2_Missense_Mutation_p.S158R|NFATC1_ENST00000329101.4_Missense_Mutation_p.S145R|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000587635.1_Missense_Mutation_p.S158R|NFATC1_ENST00000592223.1_Missense_Mutation_p.S145R|NFATC1_ENST00000591814.1_Missense_Mutation_p.S158R|NFATC1_ENST00000586434.1_Missense_Mutation_p.S145R|NFATC1_ENST00000318065.5_Missense_Mutation_p.S145R NM_006162.3 NP_006153.2 O95644 NFAC1_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 158 Trans-activation domain A (TAD-A). intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1) 40 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257) CCACGCTGAGTCTGCCCAGCC 0.627000 18 31 0 0 1 0 0 ADORA3 140 broad.mit.edu 37 1 112033366 112033366 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:112033366G>A ENST00000369716.4 - 2 502 c.369C>T c.(367-369)ctC>ctT p.L123L ADORA3_ENST00000369717.4_Silent_p.L42L NM_020683.6 NP_065734.5 P33765 AA3R_HUMAN adenosine A3 receptor 0 activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction integral to plasma membrane adenosine receptor activity, G-protein coupled NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1) 12 all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156) all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134) Adenosine(DB00640)|Aminophylline(DB01223) TGCACCCAGGGAGCCCAGGAA 0.448000 23 21 0 0 1 0 0 ITGA9 3680 broad.mit.edu 37 3 37514891 37514891 + Silent SNP C C G rs140343057 byFrequency TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:37514891C>G ENST00000264741.5 + 3 616 c.360C>G c.(358-360)cgC>cgG p.R120R ITGA9_ENST00000422441.1_Silent_p.R120R NM_002207.2 NP_002198.2 Q13797 ITA9_HUMAN integrin, alpha 9 120 axon guidance|cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1) 44 KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197) GGGAAGACCGCGATGATGAGT 0.622000 17 40 0 0 1 0 0 COL4A5 1287 broad.mit.edu 37 X 107823796 107823796 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:107823796C>T ENST00000328300.6 + 14 1058 c.814C>T c.(814-816)Cca>Tca p.P272S COL4A5_ENST00000361603.2_Missense_Mutation_p.P272S NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 272 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 TCCTGGACCTCCAGGGATACG 0.428000 Alport syndrome with Diffuse Leiomyomatosis 47 83 0 0 1 0 0 DNAH3 55567 broad.mit.edu 37 16 21011790 21011790 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr16:21011790G>A ENST00000261383.3 - 43 6176 c.6177C>T c.(6175-6177)ttC>ttT p.F2059F DNAH3_ENST00000415178.1_3'UTR NM_017539.1 NP_060009.1 Q8TD57 DYH3_HUMAN dynein, axonemal, heavy chain 3 2059 AAA 3 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6) 202 GBM - Glioblastoma multiforme(48;0.207) AGGTTTTCAAGAAGAAGGACT 0.532000 17 28 0 0 1 0 0 NDN 4692 broad.mit.edu 37 15 23932346 23932346 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr15:23932346C>T ENST00000331837.4 - 1 104 c.19G>A c.(19-21)Gat>Aat p.D7N NM_002487.2 NP_002478.1 Q99608 NECD_HUMAN necdin, melanoma antigen (MAGE) family member 7 negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus|perikaryon DNA binding breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1) 39 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153) TCGCTCAGATCCTTACTTTGT 0.647000 Prader-Willi syndrome 8 15 0 0 1 0 0 ADAMTS14 140766 broad.mit.edu 37 10 72489106 72489106 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:72489106C>T ENST00000373208.1 + 5 927 c.927C>T c.(925-927)gtC>gtT p.V309V ADAMTS14_ENST00000373207.1_Silent_p.V309V NM_139155.2 NP_631894.2 Q8WXS8 ATS14_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 14 309 Peptidase M12B. collagen catabolic process|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 TTGCCCTCGTCCGCTTGATCA 0.493000 22 40 0 0 1 0 0 OR5M10 390167 broad.mit.edu 37 11 56344919 56344919 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:56344919G>A ENST00000526812.2 - 1 344 c.279C>T c.(277-279)tcC>tcT p.S93S NM_001004741.1 NP_001004741.1 Q6IEU7 OR5MA_HUMAN olfactory receptor, family 5, subfamily M, member 10 93 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2) 25 ATCCAGCGTAGGAGATGGTCT 0.428000 27 41 0 0 1 0 0 LTBP1 4052 broad.mit.edu 37 2 33246016 33246016 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:33246016C>T ENST00000404816.2 + 3 959 c.606C>T c.(604-606)ctC>ctT p.L202L LTBP1_ENST00000354476.3_Silent_p.L202L Q14766 LTBP1_HUMAN latent transforming growth factor beta binding protein 1 202 EGF-like 1. negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3) 108 all_hematologic(175;0.115) Medulloblastoma(90;0.215) GGATGTGTCTCCGGCCACAAC 0.498000 102 171 0 0 1 0 0 LATS1 9113 broad.mit.edu 37 6 150005651 150005651 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr6:150005651G>A ENST00000543571.1 - 4 1121 c.574C>T c.(574-576)Ccg>Tcg p.P192S LATS1_ENST00000392273.3_Missense_Mutation_p.P192S|LATS1_ENST00000253339.5_Missense_Mutation_p.P192S|LATS1_ENST00000542747.1_5'UTR NM_004690.3 NP_004681.1 O95835 LATS1_HUMAN large tumor suppressor kinase 1 192 cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation microtubule organizing center|spindle pole ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity central_nervous_system(1)|lung(5) 6 Ovarian(120;0.0164) OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116) CCTAGTGGCGGGCCATGCCTC 0.448000 31 17 0 0 1 0 0 LEPR 3953 broad.mit.edu 37 1 66036244 66036244 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:66036244C>T ENST00000349533.6 + 4 314 c.129C>T c.(127-129)acC>acT p.T43T LEPR_ENST00000371059.3_Silent_p.T43T|LEPR_ENST00000371060.3_Silent_p.T43T|LEPR_ENST00000371058.1_Silent_p.T43T|LEPR_ENST00000344610.8_Silent_p.T43T|LEPR_ENST00000406510.3_5'UTR|LEPR_ENST00000462765.1_3'UTR NM_002303.5 NP_002294.2 P48357 LEPR_HUMAN leptin receptor 43 energy reserve metabolic process|multicellular organismal development extracellular region|integral to membrane|plasma membrane cytokine receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2) 36 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) CAAATTCAACCTATGACTACT 0.353000 19 66 0 0 1 0 0 ZNF318 24149 broad.mit.edu 37 6 43316087 43316087 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr6:43316087G>A ENST00000361428.2 - 6 3124 c.3047C>T c.(3046-3048)tCg>tTg p.S1016L ZNF318_ENST00000318149.3_Missense_Mutation_p.S1016L NM_014345.2 NP_055160.2 Q5VUA4 ZN318_HUMAN zinc finger protein 318 1016 meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus nucleic acid binding|zinc ion binding autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 61 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579) GTTTGAGAACGATGACACTTT 0.378000 66 78 0 0 1 0 0 BPIFA1 51297 broad.mit.edu 37 20 31829252 31829252 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr20:31829252C>T ENST00000354297.4 + 6 714 c.643C>T c.(643-645)Ctg>Ttg p.L215L BPIFA1_ENST00000375413.4_Silent_p.L215L|BPIFA1_ENST00000375422.2_Silent_p.L215L NM_130852.2 NP_570913.1 Q9NP55 PLUNC_HUMAN BPI fold containing family A, member 1 215 innate immune response extracellular region lipid binding GAATAAAGTCCTGCCTGAGTT 0.512000 87 129 0 0 1 0 0 HCFC1 3054 broad.mit.edu 37 X 153228799 153228799 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:153228799G>A ENST00000310441.7 - 4 1555 c.589C>T c.(589-591)Cca>Tca p.P197S HCFC1_ENST00000354233.3_Missense_Mutation_p.P197S|HCFC1_ENST00000369984.4_Missense_Mutation_p.P197S NM_005334.2 NP_005325.2 P51610 HCFC1_HUMAN host cell factor C1 (VP16-accessory protein) 197 cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CGGGGTGGTGGTAGGACCCCG 0.537000 45 77 0 0 1 0 0 DAG1 1605 broad.mit.edu 37 3 49569013 49569013 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:49569013C>T ENST00000545947.1 + 6 1791 c.1069C>T c.(1069-1071)Cca>Tca p.P357S DAG1_ENST00000308775.2_Missense_Mutation_p.P357S|DAG1_ENST00000541308.1_Missense_Mutation_p.P357S|DAG1_ENST00000539901.1_Missense_Mutation_p.P357S|DAG1_ENST00000538711.1_Missense_Mutation_p.P357S|DAG1_ENST00000515359.2_Missense_Mutation_p.P357S NM_001177634.2 NP_001171105.1 Q14118 DAG1_HUMAN dystroglycan 1 (dystrophin-associated glycoprotein 1) 357 Mucin-like domain.|Required for laminin recognition.|Thr-rich. cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1) 23 BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) CATGGCTCCTCCAGTCAGGGA 0.612000 56 101 0 0 1 0 0 CTBP2 1488 broad.mit.edu 37 10 126715138 126715138 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr10:126715138G>A ENST00000309035.6 - 1 1321 c.1191C>T c.(1189-1191)ccC>ccT p.P397P CTBP2_ENST00000494626.2_Intron|CTBP2_ENST00000531469.1_Intron|CTBP2_ENST00000411419.2_Intron|CTBP2_ENST00000337195.5_Intron NM_022802.2 NP_073713.2 P56545 CTBP2_HUMAN C-terminal binding protein 2 0 negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation cell junction|synapse|transcriptional repressor complex NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173) Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147) CTCCAGCTCGGGGGGATGCTG 0.687000 3 5 0 0 1 0 0 ART1 417 broad.mit.edu 37 11 3685393 3685393 + Missense_Mutation SNP T T A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:3685393T>A ENST00000250693.1 + 5 1059 c.958T>A c.(958-960)Ttt>Att p.F320I NM_004314.2 NP_004305.2 P52961 NAR1_HUMAN ADP-ribosyltransferase 1 320 protein ADP-ribosylation anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1) 8 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195) Becaplermin(DB00102) GGTGAGGGCCTTTCCAGATGG 0.597000 63 78 0 0 1 0 0 FLT1 2321 broad.mit.edu 37 13 29001405 29001405 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr13:29001405G>A ENST00000282397.4 - 10 1578 c.1327C>T c.(1327-1329)Ctc>Ttc p.L443F FLT1_ENST00000541932.1_Missense_Mutation_p.L443F|FLT1_ENST00000539099.1_Missense_Mutation_p.L443F NM_002019.4 NP_002010.2 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 443 Ig-like C2-type 5. cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 115 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) AGTGGGTAGAGAGCCGGGTCT 0.488000 30 49 0 0 1 0 0 ALB 213 broad.mit.edu 37 4 74277775 74277775 + Missense_Mutation SNP T T A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr4:74277775T>A ENST00000295897.4 + 7 865 c.776T>A c.(775-777)gTg>gAg p.V259E ALB_ENST00000505649.1_3'UTR|ALB_ENST00000503124.1_Missense_Mutation_p.V109E|ALB_ENST00000509063.1_Missense_Mutation_p.V259E|ALB_ENST00000415165.2_Missense_Mutation_p.V67E|ALB_ENST00000401494.3_Missense_Mutation_p.V144E NM_000477.5 NP_000468.1 P02768 ALBU_HUMAN albumin 259 Albumin 2. bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport extracellular space|platelet alpha granule lumen|protein complex antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1) 48 Breast(15;0.00102) Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137) TCCAAGTTAGTGACAGATCTT 0.438000 29 38 0 0 1 0 0 SH3TC2 79628 broad.mit.edu 37 5 148406772 148406772 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:148406772G>A ENST00000538184.1 - 7 2052 c.1164C>T c.(1162-1164)ctC>ctT p.L388L SH3TC2_ENST00000394358.2_Silent_p.L726L|SH3TC2_ENST00000512049.1_Silent_p.L834L|SH3TC2_ENST00000515425.1_Silent_p.L841L Q8TF17 S3TC2_HUMAN SH3 domain and tetratricopeptide repeats 2 841 binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 39 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CAAGTCCCAGGAGGTTATAGA 0.557000 112 146 0 0 1 0 0 MKL1 57591 broad.mit.edu 37 22 40827457 40827457 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr22:40827457G>A ENST00000396617.3 - 6 681 c.91C>T c.(91-93)Cgt>Tgt p.R31C MKL1_ENST00000407029.1_Missense_Mutation_p.R31C|MKL1_ENST00000402630.1_Missense_Mutation_p.R31C|MKL1_ENST00000355630.3_Missense_Mutation_p.R31C|MKL1_ENST00000402042.1_Missense_Mutation_p.R31C Q969V6 MKL1_HUMAN megakaryoblastic leukemia (translocation) 1 31 Mediates interaction with SCAI and ACTB (By similarity). positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent cytoplasm|nucleus actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 30 GGCCGGGAACGAATCTTCCGT 0.473000 T RBM15 acute megakaryocytic leukemia 67 123 0 0 1 0 0 ZIM3 114026 broad.mit.edu 37 19 57647164 57647164 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:57647164G>A ENST00000269834.1 - 5 926 c.541C>T c.(541-543)Cgc>Tgc p.R181C NM_052882.1 NP_443114.1 Q96PE6 ZIM3_HUMAN zinc finger, imprinted 3 181 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 52 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) CTTTGAAGGCGTGACTTTGAA 0.398000 54 91 0 0 1 0 0 COL4A3 1285 broad.mit.edu 37 2 228157944 228157944 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:228157944G>A ENST00000396578.3 + 38 3410 c.3248G>A c.(3247-3249)gGa>gAa p.G1083E AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000433324.1_RNA NM_000091.4 NP_000082.2 Q01955 CO4A3_HUMAN collagen, type IV, alpha 3 (Goodpasture antigen) 1083 Triple-helical region. activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound collagen type IV extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity p.G1083E(2) NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247) Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187) GGAAAGAAAGGAGAAATGGGG 0.512000 19 15 0 0 1 0 0 ANKMY1 51281 broad.mit.edu 37 2 241465802 241465802 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:241465802G>A ENST00000391987.1 - 6 1113 c.747C>T c.(745-747)ggC>ggT p.G249G ANKMY1_ENST00000403283.1_Intron|ANKMY1_ENST00000406958.1_Intron|ANKMY1_ENST00000401804.1_Silent_p.G338G|ANKMY1_ENST00000405523.3_Intron|ANKMY1_ENST00000462004.1_5'UTR|ANKMY1_ENST00000536462.1_Intron|ANKMY1_ENST00000373318.2_Intron|ANKMY1_ENST00000373320.4_Intron|ANKMY1_ENST00000272972.3_Silent_p.G249G|ANKMY1_ENST00000405002.1_Intron|ANKMY1_ENST00000361678.4_Intron Q9P2S6 ANKY1_HUMAN ankyrin repeat and MYND domain containing 1 249 zinc ion binding central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 30 all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476) AGGGTGCAAAGCCACTGCGCT 0.537000 25 10 0 0 1 0 0 FILIP1 27145 broad.mit.edu 37 6 76022359 76022359 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr6:76022359C>T ENST00000393004.2 - 5 3410 c.3189G>A c.(3187-3189)gaG>gaA p.E1063E FILIP1_ENST00000370020.1_Silent_p.E964E|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Silent_p.E1063E Q7Z7B0 FLIP1_HUMAN filamin A interacting protein 1 1063 breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4) 80 TTTTATTGTCCTCTGTGGTTA 0.458000 74 87 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228559548 228559548 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:228559548C>T ENST00000570156.2 + 105 24014 c.23940C>T c.(23938-23940)tcC>tcT p.S7980S OBSCN_ENST00000422127.1_Silent_p.S7023S|OBSCN_ENST00000366707.4_Silent_p.S4657S NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 7023 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) AGAGGCCATCCCCGGACAGCC 0.701000 31 8 0 0 1 0 0 ITGA10 8515 broad.mit.edu 37 1 145530899 145530899 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:145530899G>A ENST00000369304.3 + 7 806 c.631G>A c.(631-633)Gag>Aag p.E211K ITGA10_ENST00000539363.1_Missense_Mutation_p.E68K|ITGA10_ENST00000538811.1_Missense_Mutation_p.E80K NM_003637.3 NP_003628.2 O75578 ITA10_HUMAN integrin, alpha 10 211 VWFA. cell-matrix adhesion|integrin-mediated signaling pathway integrin complex collagen binding|receptor activity NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) ACAGTATGGGGAGAGCCCTGT 0.493000 19 22 0 0 1 0 0 WWC3 55841 broad.mit.edu 37 X 10085585 10085585 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:10085585C>T ENST00000380861.4 + 11 1877 c.1486C>T c.(1486-1488)Cta>Tta p.L496L WWC3_ENST00000454666.1_Silent_p.L496L NM_015691.3 NP_056506.2 Q9ULE0 WWC3_HUMAN WWC family member 3 496 NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 52 CCTGGGCGCCCTAGACAGACT 0.721000 7 6 0 0 1 0 0 TGFB1 7040 broad.mit.edu 37 19 41854275 41854275 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:41854275G>A ENST00000221930.5 - 2 1307 c.441C>T c.(439-441)ccC>ccT p.P147P NM_000660.4 NP_000651.3 P01137 TGFB1_HUMAN transforming growth factor, beta 1 147 active induction of host immune response by virus|ATP biosynthetic process|cell cycle arrest|cell growth|cell-cell junction organization|chondrocyte differentiation|connective tissue replacement involved in inflammatory response wound healing|epidermal growth factor receptor signaling pathway|evasion of host defenses by virus|hemopoietic progenitor cell differentiation|induction of apoptosis|lymph node development|mitotic cell cycle G1/S transition checkpoint|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of cell-cell adhesion|negative regulation of DNA replication|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|negative regulation of macrophage cytokine production|negative regulation of mitotic cell cycle|negative regulation of protein phosphorylation|ossification involved in bone remodeling|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of blood vessel endothelial cell migration|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of chemotaxis|positive regulation of collagen biosynthetic process|positive regulation of epithelial to mesenchymal transition|positive regulation of fibroblast migration|positive regulation of interleukin-17 production|positive regulation of isotype switching to IgA isotypes|positive regulation of MAP kinase activity|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein dephosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein secretion|positive regulation of SMAD protein import into nucleus|protein export from nucleus|protein import into nucleus, translocation|receptor catabolic process|regulation of DNA binding|regulation of striated muscle tissue development|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|response to estradiol stimulus|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway|viral infectious cycle extracellular space|Golgi lumen|nucleus|platelet alpha granule lumen|proteinaceous extracellular matrix growth factor activity|type II transforming growth factor beta receptor binding endometrium(1)|large_intestine(2)|lung(4)|skin(1) 8 Hyaluronidase(DB00070) AGAGCAACACGGGTTCAGGTA 0.507000 58 100 0 0 1 0 0 PVR 5817 broad.mit.edu 37 19 45150650 45150650 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:45150650C>T ENST00000425690.3 + 2 534 c.235C>T c.(235-237)Cac>Tac p.H79Y PVR_ENST00000403059.4_Missense_Mutation_p.H79Y|CTB-171A8.1_ENST00000590796.1_RNA|PVR_ENST00000344956.4_Missense_Mutation_p.H79Y|PVR_ENST00000406449.4_Missense_Mutation_p.H79Y NM_006505.3 NP_006496.3 P15151 PVR_HUMAN poliovirus receptor 79 Ig-like V-type. adherens junction organization|cell adhesion|cell junction assembly|interspecies interaction between organisms|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity cell junction|cell surface|cytoplasm|extracellular space|integral to membrane|nucleus cell adhesion molecule binding|receptor activity large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 6 Lung NSC(12;0.00608)|all_lung(12;0.0148) Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112) Epithelial(262;0.000601) GGCCGTCTTCCACCAAACGCA 0.622000 10 17 0 0 1 0 0 NLRP11 204801 broad.mit.edu 37 19 56303724 56303724 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:56303724C>T ENST00000443188.1 - 9 3166 c.2456G>A c.(2455-2457)gGa>gAa p.G819E NLRP11_ENST00000360133.3_Missense_Mutation_p.G765E|NLRP11_ENST00000592953.1_Missense_Mutation_p.G720E|NLRP11_ENST00000589093.1_Missense_Mutation_p.G819E|NLRP11_ENST00000589824.2_Missense_Mutation_p.G765E NM_145007.3 NP_659444.2 P59045 NAL11_HUMAN NLR family, pyrin domain containing 11 819 ATP binding NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 66 Colorectal(82;0.0002) GBM - Glioblastoma multiforme(193;0.0325) ATGCAACACTCCGTAATTTTT 0.468000 43 68 0 0 1 0 0 PLEKHG4 25894 broad.mit.edu 37 16 67322298 67322298 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr16:67322298C>T ENST00000360461.5 + 19 5984 c.3449C>T c.(3448-3450)tCt>tTt p.S1150F PLEKHG4_ENST00000450733.1_Missense_Mutation_p.S1069F|PLEKHG4_ENST00000379344.3_Missense_Mutation_p.S1150F|PLEKHG4_ENST00000427155.2_Missense_Mutation_p.S1150F NM_001129727.1|NM_015432.3 NP_001123199.1|NP_056247.1 Q58EX7 PKHG4_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 4 1150 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119) GGCCAGCCCTCTTTGAGTATG 0.627000 34 35 0 0 1 0 0 RBBP5 5929 broad.mit.edu 37 1 205069074 205069074 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:205069074G>A ENST00000264515.6 - 8 1012 c.871C>T c.(871-873)Cat>Tat p.H291Y RBBP5_ENST00000367164.1_Missense_Mutation_p.H291Y NM_001193273.1|NM_005057.3 NP_001180202.1|NP_005048.2 Q15291 RBBP5_HUMAN retinoblastoma binding protein 5 291 histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent MLL1 complex|Set1C/COMPASS complex methylated histone residue binding|transcription regulatory region DNA binding cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 27 Breast(84;0.0505) BRCA - Breast invasive adenocarcinoma(75;0.0923) CTCGTCCCATGGAGAATCTTC 0.458000 37 110 0 0 1 0 0 NFASC 23114 broad.mit.edu 37 1 204937395 204937395 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:204937395G>A ENST00000367172.4 + 9 1053 c.725G>A c.(724-726)aGa>aAa p.R242K NFASC_ENST00000404907.1_Missense_Mutation_p.R253K|NFASC_ENST00000513543.1_Missense_Mutation_p.R253K|NFASC_ENST00000360049.4_Missense_Mutation_p.R253K|NFASC_ENST00000367170.4_Missense_Mutation_p.R242K|NFASC_ENST00000367171.4_Missense_Mutation_p.R242K|NFASC_ENST00000404076.1_Missense_Mutation_p.R236K|NFASC_ENST00000338586.6_Missense_Mutation_p.R242K|NFASC_ENST00000367169.4_Missense_Mutation_p.R242K|NFASC_ENST00000339876.6_Missense_Mutation_p.R242K|NFASC_ENST00000338515.6_Missense_Mutation_p.R242K|NFASC_ENST00000401399.1_Missense_Mutation_p.R242K|NFASC_ENST00000403080.1_Missense_Mutation_p.R242K|NFASC_ENST00000539706.1_Missense_Mutation_p.R253K O94856 NFASC_HUMAN neurofascin 242 axon guidance|cell adhesion|myelination|peripheral nervous system development integral to membrane|node of Ranvier|plasma membrane protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1) 81 all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158) GTTGCAGAAAGAACACCAAGC 0.577000 19 51 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13883178 13883178 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:13883178C>T ENST00000265104.4 - 20 3113 c.3009G>A c.(3007-3009)aaG>aaA p.K1003K CTB-51A17.1_ENST00000503244.1_RNA NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1003 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity p.K1003N(1) NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) AACTGTTCTGCTTCATGTTAG 0.433000 Kartagener syndrome 33 49 0 0 1 0 0 PTK2B 2185 broad.mit.edu 37 8 27278228 27278228 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:27278228G>A ENST00000397501.1 + 9 1246 c.438G>A c.(436-438)gaG>gaA p.E146E PTK2B_ENST00000517339.1_Silent_p.E146E|PTK2B_ENST00000420218.2_Silent_p.E146E|PTK2B_ENST00000338238.4_Silent_p.E146E|PTK2B_ENST00000346049.5_Silent_p.E146E|PTK2B_ENST00000544172.1_Silent_p.E146E NM_173174.2 NP_775266.1 Q14289 FAK2_HUMAN protein tyrosine kinase 2 beta 146 FERM. apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly cytosol ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 47 Ovarian(32;2.72e-05) UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229) GCCTGAAGGAGGACAGGACCA 0.483000 28 58 0 0 1 0 0 HACE1 57531 broad.mit.edu 37 6 105233028 105233028 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr6:105233028C>T ENST00000262903.4 - 12 1517 c.1241G>A c.(1240-1242)gGg>gAg p.G414E HACE1_ENST00000369125.2_Missense_Mutation_p.G414E NM_020771.3 NP_065822.2 Q8IYU2 HACE1_HUMAN HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 414 protein ubiquitination involved in ubiquitin-dependent protein catabolic process endoplasmic reticulum ubiquitin-protein ligase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 44 all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202) BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204) TTCATAGCTCCCAGGTCCTGG 0.438000 22 28 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367739 145367739 + Silent SNP A A G rs146714035 by1000genomes TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:145367739A>G ENST00000342960.5 + 83 10370 c.10335A>G c.(10333-10335)aaA>aaG p.K3445K NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3445 p.K3445K(4) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) ggaaggggaaaaaaagaaggg 0.413000 3 40 0 0 1 0 0 GPR50 9248 broad.mit.edu 37 X 150345221 150345221 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:150345221C>T ENST00000218316.3 + 1 97 c.28C>T c.(28-30)Ccc>Tcc p.P10S GPR50-AS1_ENST00000454196.1_RNA NM_004224.3 NP_004215.2 Q13585 MTR1L_HUMAN G protein-coupled receptor 50 10 cell-cell signaling integral to plasma membrane melatonin receptor activity breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1) 38 Acute lymphoblastic leukemia(192;6.56e-05) GGTTCCCACCCCCTATGGCTG 0.552000 46 70 0 0 1 0 0 HNF4G 3174 broad.mit.edu 37 8 76472686 76472686 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr8:76472686C>T ENST00000396423.2 + 9 1325 c.1201C>T c.(1201-1203)Cat>Tat p.H401Y HNF4G_ENST00000354370.1_Missense_Mutation_p.H364Y NM_004133.4 NP_004124.4 Q14541 HNF4G_HUMAN hepatocyte nuclear factor 4, gamma 364 endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 Breast(64;0.0448) BRCA - Breast invasive adenocarcinoma(89;0.161) AACACTGGTTCATGCAGACCA 0.373000 18 34 0 0 1 0 0 DLEC1 9940 broad.mit.edu 37 3 38136501 38136501 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:38136501G>A ENST00000308059.6 + 13 2072 c.2051G>A c.(2050-2052)aGa>aAa p.R684K DLEC1_ENST00000452631.2_Missense_Mutation_p.R684K|DLEC1_ENST00000346219.3_Missense_Mutation_p.R684K Q9Y238 DLEC1_HUMAN deleted in lung and esophageal cancer 1 684 negative regulation of cell proliferation cytoplasm NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 51 KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827) ATCATGCCCAGAAAGGGGGTT 0.537000 24 30 0 0 1 0 0 RIMS1 22999 broad.mit.edu 37 6 72947532 72947532 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr6:72947532G>A ENST00000264839.7 + 9 1864 c.1864G>A c.(1864-1866)Gga>Aga p.G622R RIMS1_ENST00000401910.3_Missense_Mutation_p.G96R|RIMS1_ENST00000518273.1_Missense_Mutation_p.G622R|RIMS1_ENST00000517960.1_Missense_Mutation_p.G622R|RIMS1_ENST00000517827.1_Missense_Mutation_p.G81R|RIMS1_ENST00000491071.2_Missense_Mutation_p.G622R|RIMS1_ENST00000425662.2_Missense_Mutation_p.G15R|RIMS1_ENST00000523963.1_Missense_Mutation_p.G96R|RIMS1_ENST00000521978.1_Missense_Mutation_p.G622R|RIMS1_ENST00000348717.5_Missense_Mutation_p.G622R|RIMS1_ENST00000520567.1_Missense_Mutation_p.G622R|RIMS1_ENST00000522291.1_Missense_Mutation_p.G622R Q86UR5 RIMS1_HUMAN regulating synaptic membrane exocytosis 1 622 PDZ. calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 102 all_epithelial(107;0.179)|all_hematologic(105;0.212) CCAGGTTGTTGGAGGAAAAAT 0.358000 7 21 0 0 1 0 0 HELZ2 85441 broad.mit.edu 37 20 62200787 62200787 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr20:62200787C>T ENST00000467148.1 - 4 871 c.802G>A c.(802-804)Ggg>Agg p.G268R NM_001037335.2 NP_001032412.2 helicase with zinc finger 2, transcriptional coactivator AGCTGCAGCCCCAGCTTTTGT 0.667000 6 20 0 0 1 0 0 DCD 117159 broad.mit.edu 37 12 55039041 55039041 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr12:55039041C>T ENST00000456047.2 - 4 394 c.205G>A c.(205-207)Ggc>Agc p.G69S DCD_ENST00000293371.6_Missense_Mutation_p.G69S P81605 DCD_HUMAN dermcidin 69 defense response to bacterium|defense response to fungus|killing of cells of other organism extracellular region protein binding large_intestine(2)|lung(2)|ovary(1)|skin(1) 6 Myeloproliferative disorder(1001;0.0255) CCGTCTAGGCCTTTTTCTAGG 0.493000 29 48 0 0 1 0 0 DBP 1628 broad.mit.edu 37 19 49134201 49134201 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:49134201C>T ENST00000222122.5 - 4 1314 c.871G>A c.(871-873)Gag>Aag p.E291K DBP_ENST00000593500.1_Missense_Mutation_p.E89K|DBP_ENST00000599385.1_Missense_Mutation_p.E89K NM_001352.3 NP_001343.2 Q10586 DBP_HUMAN D site of albumin promoter (albumin D-box) binding protein 291 Leucine-zipper. regulation of transcription from RNA polymerase II promoter|rhythmic process nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1) 5 all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155) TTCTCCTTCTCCAGGAAGGCC 0.672000 11 14 0 0 1 0 0 COL28A1 340267 broad.mit.edu 37 7 7480428 7480428 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:7480428C>T ENST00000399429.3 - 21 1855 c.1715G>A c.(1714-1716)gGa>gAa p.G572E NM_001037763.2 NP_001032852.2 Q2UY09 COSA1_HUMAN collagen, type XXVIII, alpha 1 572 Collagen-like 5. cell adhesion basement membrane|collagen serine-type endopeptidase inhibitor activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 42 Ovarian(82;0.0789) UCEC - Uterine corpus endometrioid carcinoma (126;0.228) TACCTTTGGTCCTTCGGGCCC 0.373000 35 49 0 0 1 0 0 MAPT 4137 broad.mit.edu 37 17 44051777 44051777 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:44051777G>A ENST00000344290.5 + 4 569 c.247G>A c.(247-249)Gga>Aga p.G83R MAPT_ENST00000574436.1_Missense_Mutation_p.G83R|MAPT_ENST00000571987.1_Missense_Mutation_p.G83R|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000535772.1_Missense_Mutation_p.G83R|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000431008.3_Missense_Mutation_p.G83R|MAPT_ENST00000576518.1_5'UTR|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000415613.2_Missense_Mutation_p.G83R|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000351559.5_Missense_Mutation_p.G83R|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000262410.5_Missense_Mutation_p.G83R|MAPT_ENST00000340799.5_Intron NM_001123066.3 NP_001116538.2 P10636 TAU_HUMAN microtubule-associated protein tau 83 cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 38 Melanoma(429;0.216) AGTGGATGAGGGAGCTCCCGG 0.627000 10 9 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21229160 21229160 + Missense_Mutation SNP C C G rs5742904 byFrequency TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:21229160C>G ENST00000233242.1 - 26 10707 c.10580G>C c.(10579-10581)cGg>cCg p.R3527P NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 3527 R -> Q (in FDB; dbSNP:rs5742904). cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) CACTGAAGACCGTGTGCTCTT 0.428000 48 76 0 0 1 0 0 FLNA 2316 broad.mit.edu 37 X 153580036 153580036 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:153580036G>A ENST00000422373.1 - 42 7160 c.6912C>T c.(6910-6912)aaC>aaT p.N2304N FLNA_ENST00000369850.3_Silent_p.N2312N|FLNA_ENST00000360319.4_Silent_p.N2304N|FLNA_ENST00000369856.3_Silent_p.N445N|FLNA_ENST00000344736.4_Silent_p.N2272N NM_001456.3 NP_001447.2 P21333 FLNA_HUMAN filamin A, alpha 2312 actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) TGTGTTCCTCGTTGAACTTGA 0.607000 30 40 0 0 1 0 0 THSD7A 221981 broad.mit.edu 37 7 11521554 11521554 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:11521554G>A ENST00000423059.3 - 7 2129 c.1878C>T c.(1876-1878)gcC>gcT p.A626A AC004538.3_ENST00000445839.1_RNA NM_015204.2 NP_056019.1 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A 626 integral to membrane p.A626A(1) NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11) 113 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) GGGCATCACAGGCCACAGGGA 0.507000 HNSCC(18;0.044) 25 39 0 0 1 0 0 PCDHA7 56141 broad.mit.edu 37 5 140215889 140215889 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:140215889G>A ENST00000525929.1 + 1 1921 c.1921G>A c.(1921-1923)Gac>Aac p.D641N PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.D641N|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron NM_018910.2 NP_061733.1 NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGATGAGACGGACGCACCGCG 0.652000 38 53 0 0 1 0 0 MFGE8 4240 broad.mit.edu 37 15 89453137 89453137 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr15:89453137G>A ENST00000539437.1 - 3 203 c.67C>T c.(67-69)Ccc>Tcc p.P23S MFGE8_ENST00000559997.1_Intron|MFGE8_ENST00000268151.7_Missense_Mutation_p.P31S|MFGE8_ENST00000566497.1_Missense_Mutation_p.P31S|MFGE8_ENST00000268150.8_Missense_Mutation_p.P31S|MFGE8_ENST00000542878.1_Intron Q08431 MFGM_HUMAN milk fat globule-EGF factor 8 protein 31 angiogenesis|cell adhesion|interspecies interaction between organisms|single fertilization breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1) 22 Lung NSC(78;0.0392)|all_lung(78;0.077) TTGTGGCAGGGGTTTTTGGAA 0.547000 31 68 0 0 1 0 0 CARKD 55739 broad.mit.edu 37 13 111290823 111290823 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr13:111290823C>T ENST00000458711.2 + 6 611 c.599C>T c.(598-600)tCc>tTc p.S200F CARKD_ENST00000309957.2_Silent_p.L376L|CARKD_ENST00000470164.2_3'UTR|CARKD_ENST00000424185.2_Missense_Mutation_p.S221F Q8IW45 CARKD_HUMAN carbohydrate kinase domain containing 331 YjeF C-terminal. NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1) 15 ACCACCACCTCCGACATGATC 0.637000 24 57 0 0 1 0 0 COL19A1 1310 broad.mit.edu 37 6 70866593 70866593 + Missense_Mutation SNP T T G TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr6:70866593T>G ENST00000322773.4 + 34 2372 c.2270T>G c.(2269-2271)aTa>aGa p.I757R COL19A1_ENST00000393344.1_Missense_Mutation_p.I379R NM_001858.4 NP_001849.2 Q14993 COJA1_HUMAN collagen, type XIX, alpha 1 757 Triple-helical region 4 (COL4). cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 109 TACCCTGGGATACCTGGGGAG 0.368000 3 9 0 0 1 0 0 KRT28 162605 broad.mit.edu 37 17 38954593 38954593 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:38954593C>T ENST00000306658.7 - 3 649 c.584G>A c.(583-585)gGa>gAa p.G195E NM_181535.3 NP_853513.2 Q7Z3Y7 K1C28_HUMAN keratin 28 195 Coil 1B.|Rod. 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) TCGCCGTAATCCGTTGATGTC 0.498000 37 57 0 0 1 0 0 CDH10 1008 broad.mit.edu 37 5 24488014 24488014 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:24488014C>T ENST00000264463.4 - 12 2632 c.2125G>A c.(2125-2127)Gac>Aac p.D709N CDH10_ENST00000502921.1_5'UTR NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 709 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) TCCCGGACGTCCGTGTTATCT 0.473000 HNSCC(23;0.051) 30 47 0 0 1 0 0 UBA6 55236 broad.mit.edu 37 4 68497581 68497581 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr4:68497581C>T ENST00000322244.4 - 24 2247 c.2188G>A c.(2188-2190)Gat>Aat p.D730N NM_018227.5 NP_060697.4 A0AVT1 UBA6_HUMAN ubiquitin-like modifier activating enzyme 6 730 protein ubiquitination|ubiquitin-dependent protein catabolic process cytoplasm ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2) 44 TTACTGCCATCTTTTAATCGT 0.294000 12 20 0 0 1 0 0 ZNF600 162966 broad.mit.edu 37 19 53270695 53270695 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:53270695C>T ENST00000338230.3 - 3 581 c.314G>A c.(313-315)gGt>gAt p.G105D NM_198457.2 NP_940859.2 Q6ZNG1 ZN600_HUMAN zinc finger protein 600 105 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 30 OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404) ACCAATTTTACCTTTGATCTG 0.393000 66 92 0 0 1 0 0 ACAP3 116983 broad.mit.edu 37 1 1229511 1229511 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:1229511G>A ENST00000354700.5 - 22 2410 c.2208C>T c.(2206-2208)ggC>ggT p.G736G ACAP3_ENST00000353662.3_Silent_p.G661G NM_030649.2 NP_085152.2 Q96P50 ACAP3_HUMAN ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 736 filopodium assembly|regulation of ARF GTPase activity|signal transduction ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 14 GGGGCGCCCGGCCCCGGCTGT 0.716000 3 3 0 0 1 0 0 CCDC85A 114800 broad.mit.edu 37 2 56599549 56599549 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:56599549C>T ENST00000407595.2 + 4 1890 c.1388C>T c.(1387-1389)gCc>gTc p.A463V RP11-482H16.1_ENST00000607540.1_RNA NM_001080433.1 NP_001073902.1 Q96PX6 CC85A_HUMAN coiled-coil domain containing 85A 463 breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3) 38 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) GGGTCCAGAGCCCGGCGGGTC 0.522000 6 6 0 0 1 0 0 PLK3 1263 broad.mit.edu 37 1 45271237 45271237 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:45271237C>T ENST00000372201.4 + 15 2067 c.1828C>T c.(1828-1830)Cgt>Tgt p.R610C PLK3_ENST00000465443.1_3'UTR NM_004073.2 NP_004064.2 Q9H4B4 PLK3_HUMAN polo-like kinase 3 610 POLO box 2. membrane ATP binding|protein binding|protein serine/threonine kinase activity endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Acute lymphoblastic leukemia(166;0.155) GGCCCGAAATCGTAGTGCTTG 0.602000 39 132 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1266768 1266768 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:1266768C>T ENST00000447027.1 + 31 8725 c.8667C>T c.(8665-8667)ccC>ccT p.P2889P RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Silent_p.P2886P Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 2886 7 X Cys-rich subdomain repeats.|Thr-rich. Missing (in Ref. 6; AAB61398). cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) ACAGCTACCCCATGCCGGGGC 0.677000 23 45 0 0 1 0 0 PRKRIR 5612 broad.mit.edu 37 11 76062453 76062453 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:76062453G>A ENST00000260045.3 - 5 1846 c.1741C>T c.(1741-1743)Cca>Tca p.P581S NM_004705.2 NP_004696.2 O43422 P52K_HUMAN protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) 581 negative regulation of cell proliferation|response to stress|signal transduction DNA binding|metal ion binding|protein dimerization activity cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 25 TCCACTGTTGGGACACTTAGG 0.423000 24 48 0 0 1 0 0 ZNF445 353274 broad.mit.edu 37 3 44496896 44496896 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr3:44496896G>A ENST00000425708.2 - 2 487 c.146C>T c.(145-147)cCt>cTt p.P49L ZNF445_ENST00000396077.2_Missense_Mutation_p.P49L P59923 ZN445_HUMAN zinc finger protein 445 49 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3) 31 KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646) CTCCTGGCCAGGGCGGTTGAG 0.587000 44 74 0 0 1 0 0 PLA2G2A 5320 broad.mit.edu 37 1 20302328 20302328 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:20302328C>T ENST00000375111.3 - 6 572 c.301G>A c.(301-303)Gac>Aac p.D101N PLA2G2A_ENST00000496748.1_5'UTR|PLA2G2A_ENST00000400520.3_Missense_Mutation_p.D101N NM_000300.3|NM_001161727.1 NP_000291.1|NP_001155199.1 P14555 PA2GA_HUMAN phospholipase A2, group IIA (platelets, synovial fluid) 101 defense response to Gram-positive bacterium|lipid catabolic process|low-density lipoprotein particle remodeling|phosphatidic acid metabolic process|positive regulation of inflammatory response|positive regulation of macrophage derived foam cell differentiation endoplasmic reticulum|extracellular space|membrane calcium ion binding|calcium-dependent phospholipase A2 activity|phospholipid binding central_nervous_system(1)|lung(6)|prostate(1)|stomach(1) 9 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427) UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000138)|Kidney(64;0.000171)|GBM - Glioblastoma multiforme(114;0.00032)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) CTGCAGGAGTCCTGTTTTGCT 0.423000 20 22 0 0 1 0 0 HUWE1 10075 broad.mit.edu 37 X 53560984 53560984 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:53560984G>A ENST00000342160.3 - 82 13463 c.13006C>T c.(13006-13008)Cct>Tct p.P4336S HUWE1_ENST00000262854.6_Missense_Mutation_p.P4336S Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 4336 HECT. base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 TGAGCTGAAGGCAGGCGATCT 0.483000 38 69 0 0 1 0 0 FAT2 2196 broad.mit.edu 37 5 150943158 150943158 + Missense_Mutation SNP G G C TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr5:150943158G>C ENST00000261800.5 - 2 3314 c.3302C>G c.(3301-3303)tCt>tGt p.S1101C NM_001447.2 NP_001438.1 Q9NYQ8 FAT2_HUMAN FAT atypical cadherin 2 1101 Cadherin 9. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CCAGTAGTAAGATGCAAATTC 0.468000 22 28 0 0 1 0 0 BLVRA 644 broad.mit.edu 37 7 43832356 43832356 + Silent SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:43832356C>T ENST00000402924.1 + 6 460 c.297C>T c.(295-297)ccC>ccT p.P99P BLVRA_ENST00000265523.4_Silent_p.P99P NM_001253823.1 NP_001240752.1 P53004 BIEA_HUMAN biliverdin reductase A 99 heme catabolic process cytosol biliverdin reductase activity|zinc ion binding endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2) 12 NADH(DB00157) TGGAATACCCCATGACACTGT 0.468000 14 27 0 0 1 0 0 HCFC1 3054 broad.mit.edu 37 X 153228798 153228798 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chrX:153228798G>A ENST00000310441.7 - 4 1556 c.590C>T c.(589-591)cCa>cTa p.P197L HCFC1_ENST00000354233.3_Missense_Mutation_p.P197L|HCFC1_ENST00000369984.4_Missense_Mutation_p.P197L NM_005334.2 NP_005325.2 P51610 HCFC1_HUMAN host cell factor C1 (VP16-accessory protein) 197 cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CCGGGGTGGTGGTAGGACCCC 0.542000 44 79 0 0 1 0 0 ZFP69 339559 broad.mit.edu 37 1 40961127 40961127 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr1:40961127C>T ENST00000372706.1 + 6 1983 c.977C>T c.(976-978)cCc>cTc p.P326L RP11-656D10.3_ENST00000450713.1_RNA|ZFP69_ENST00000372705.3_Missense_Mutation_p.P326L ZFP69 zinc finger protein GGTGAGAAACCCTTTGAATGT 0.438000 26 25 0 0 1 0 0 LHFPL3 375612 broad.mit.edu 37 7 104377191 104377191 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr7:104377191G>A ENST00000535008.1 + 4 639 c.515G>A c.(514-516)tGt>tAt p.C172Y LHFPL3_ENST00000401970.2_Missense_Mutation_p.C158Y|LHFPL3_ENST00000543266.1_Missense_Mutation_p.C172Y|LHFPL3_ENST00000424859.1_Missense_Mutation_p.C158Y Q86UP9 LHPL3_HUMAN lipoma HMGIC fusion partner-like 3 158 integral to membrane kidney(1)|large_intestine(2)|lung(6) 9 AAACGGATGTGTGGAGAAAAG 0.458000 10 21 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1263792 1263792 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:1263792G>A ENST00000447027.1 + 31 5749 c.5691G>A c.(5689-5691)acG>acA p.T1897T RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Silent_p.T1894T Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 1894 11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CCAGCTCCACGGCCACGCCCT 0.612000 34 65 0 0 1 0 0 VPS54 51542 broad.mit.edu 37 2 64141332 64141340 + In_Frame_Del DEL AGACGAGTA AGACGAGTA - TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr2:64141332_64141340delAGACGAGTA ENST00000354504.3 - 14 2440_2448 c.1851_1859delTACTCGTCT c.(1849-1860)ctg>ct p.LTRL617del VPS54_ENST00000409558.3_In_Frame_Del_p.LTRL758del|VPS54_ENST00000272322.4_In_Frame_Del_p.LTRL770del Q9P1Q0 VPS54_HUMAN vacuolar protein sorting 54 homolog (S. cerevisiae) 770 protein transport|retrograde transport, endosome to Golgi p.R772S(1) endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 27 TAAATCTGACAGACGAGTAAGCATGTCAG 0.335 14 70 --- --- --- --- RBM4B 83759 broad.mit.edu 37 11 66444242 66444243 + Frame_Shift_Del DEL CG CG - TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr11:66444242_66444243delCG ENST00000525754.1 - 1 976_977 c.308_309delCG c.(307-309)cfs p.P103fs RBM4B_ENST00000524637.1_Frame_Shift_Del_p.P103fs|RBM4B_ENST00000310046.4_Frame_Shift_Del_p.P103fs|RBM4B_ENST00000531969.1_Frame_Shift_Del_p.P103fs|RBM4B_ENST00000531036.2_Frame_Shift_Del_p.P103fs Q9BQ04 RBM4B_HUMAN RNA binding motif protein 4B 103 RRM 2. circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|RNA splicing nucleolus nucleotide binding|RNA binding|zinc ion binding breast(1)|endometrium(2)|large_intestine(4)|lung(1)|urinary_tract(2) 10 ATTCGATGACCGGACCATACTC 0.500 51 146 --- --- --- --- VRTN 55237 broad.mit.edu 37 14 74824518 74824518 + Frame_Shift_Del DEL C C - TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr14:74824518delC ENST00000256362.4 + 2 1273 c.1032delC c.(1030-1032)cgfs p.R344fs NM_018228.2 NP_060698.2 Q9H8Y1 VRTN_HUMAN vertebrae development associated 344 transposition, DNA-mediated DNA binding|transposase activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1) 41 AGATCTCCCGCTCAACCTACT 0.657 32 54 --- --- --- --- SRSF1 6426 broad.mit.edu 37 17 56084325 56084326 + Frame_Shift_Ins INS - - A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr17:56084325_56084326insA ENST00000582730.2 - 1 296_297 c.173_174insT c.(172-174)tgtfs p.C58fs SRSF1_ENST00000585096.1_Frame_Shift_Ins_p.C58fs|SRSF1_ENST00000584773.1_Frame_Shift_Ins_p.C58fs|SRSF1_ENST00000258962.4_Frame_Shift_Ins_p.C58fs NM_001078166.1 NP_001071634.1 Q07955 SRSF1_HUMAN serine/arginine-rich splicing factor 1 58 RRM 1. mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA 5'-splice site recognition|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytoplasm|nuclear speck nucleotide binding|RNA binding breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 CGAACTCAACGAAGGCGAAGGG 0.579 49 90 --- --- --- --- TNPO2 30000 broad.mit.edu 37 19 12829917 12829917 + Frame_Shift_Del DEL G G - TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 Untested Somatic Phase_I WXS none Illumina GAIIx f24774e4-d8fc-4702-a0e2-98fecfce3515 6984db85-4f5b-48c5-bc22-3bc30b159b89 g.chr19:12829917delG ENST00000425528.1 - 5 608 c.251delC c.(250-252)ctfs p.P84fs TNPO2_ENST00000588216.1_Frame_Shift_Del_p.P84fs|TNPO2_ENST00000589956.1_5'UTR|TNPO2_ENST00000592287.1_Frame_Shift_Del_p.P84fs|TNPO2_ENST00000441499.1_Frame_Shift_Del_p.P84fs|TNPO2_ENST00000450764.2_Frame_Shift_Del_p.P84fs|TNPO2_ENST00000356861.5_Frame_Shift_Del_p.P84fs O14787 TNPO2_HUMAN transportin 2 84 Importin N-terminal. intracellular protein transport cytoplasm|nucleus nuclear localization sequence binding|protein binding|protein transporter activity autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 GTCTGCCACAGGGGGTGGGAA 0.577 53 82 --- --- --- ---