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 ZNF573 126231 broad.mit.edu 37 19 38262306 38262306 + Missense_Mutation SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr19:38262306C>T ENST00000590414.2 - 2 121 c.100G>A c.(100-102)Gcc>Acc p.A34T ZNF573_ENST00000339503.4_5'UTR|ZNF573_ENST00000357309.3_Intron|ZNF573_ENST00000585724.1_Intron|ZNF573_ENST00000392138.1_5'UTR|ZNF573_ENST00000536220.1_5'UTR Q86YE8 ZN573_HUMAN zinc finger protein 573 14 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146) AAGTCTATGGCCACATCCCTG 0.408000 6 22 0 0 0.038147 0 0 HELZ 9931 broad.mit.edu 37 17 65186378 65186378 + Silent SNP T T G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr17:65186378T>G ENST00000358691.5 - 10 817 c.651A>C c.(649-651)tcA>tcC p.S217S HELZ_ENST00000580168.1_Silent_p.S217S|HELZ_ENST00000580662.1_5'UTR 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) TTATCAGCCGTGAAGCATATC 0.393000 12 50 0 0 0.016723 0 0 LAMA4 3910 broad.mit.edu 37 6 112493962 112493962 + Missense_Mutation SNP G G C TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr6:112493962G>C ENST00000230538.7 - 12 1799 c.1402C>G c.(1402-1404)Cgc>Ggc p.R468G LAMA4_ENST00000389463.4_Missense_Mutation_p.R461G|LAMA4_ENST00000424408.2_Missense_Mutation_p.R461G|LAMA4_ENST00000522006.1_Missense_Mutation_p.R461G NM_001105206.2 NP_001098676.2 Q16363 LAMA4_HUMAN laminin, alpha 4 468 Domain II and I. 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) AACAGAGTGCGGGTCTCATTG 0.527000 4 29 0 0 0.014758 0 0 PIP5K1B 8395 broad.mit.edu 37 9 71532554 71532554 + Missense_Mutation SNP C C T rs146846422 TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr9:71532554C>T ENST00000265382.3 + 9 1167 c.862C>T c.(862-864)Cca>Tca p.P288S PIP5K1B_ENST00000541509.1_Missense_Mutation_p.P288S NM_003558.2 NP_003549.1 O14986 PI51B_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type I, beta 288 PIPK. endomembrane system|membrane|uropod 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding breast(1)|large_intestine(2)|stomach(1) 4 Lung(182;0.133) GGAGGAGACCCCACAAAATGT 0.473000 163 56 0 0 0.014410 0 0 TP53 7157 broad.mit.edu 37 17 7577534 7577534 + Missense_Mutation SNP C C A rs28934571 TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr17:7577534C>A ENST00000420246.2 - 7 879 c.747G>T c.(745-747)agG>agT p.R249S TP53_ENST00000269305.4_Missense_Mutation_p.R249S|TP53_ENST00000413465.2_Missense_Mutation_p.R249S|TP53_ENST00000445888.2_Missense_Mutation_p.R249S|TP53_ENST00000359597.4_Missense_Mutation_p.R249S|TP53_ENST00000455263.2_Missense_Mutation_p.R249S NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 249 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity). R -> G (in sporadic cancers; somatic mutation).|R -> I (in a sporadic cancer; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).|R -> M (in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in sporadic cancers; somatic mutation; dbSNP:rs28934571).|R -> T (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (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.R249S(348)|p.0?(8)|p.R249R(5)|p.?(5)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.R249_P250delRP(1)|p.R249_P250insR(1)|p.R249_P250>SS(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*14(1)|p.R249_T256delRPILTIIT(1)|p.P250fs*14(1)|p.R249_I251delRPI(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) TGAGGATGGGCCTCCGGTTCA 0.572000 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) 38 19 7.63091e-17 9.29887e-17 0.030466 1 0 HERC2 8924 broad.mit.edu 37 15 28389228 28389228 + Missense_Mutation SNP G G A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr15:28389228G>A ENST00000261609.7 - 73 11402 c.11294C>T c.(11293-11295)gCc>gTc p.A3765V NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 3765 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) TTTACCTAGGGCACTCAGCTG 0.507000 30 64 0 0 0.015359 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110487466 110487466 + Missense_Mutation SNP A A G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr8:110487466A>G ENST00000378402.5 + 51 8829 c.8725A>G c.(8725-8727)Att>Gtt p.I2909V NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 2909 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) CATAACCAACATTTCATATAC 0.338000 HNSCC(38;0.096) 6 29 0 0 0.021553 0 0 PCDHGB3 56102 broad.mit.edu 37 5 140750142 140750142 + Missense_Mutation SNP T T G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr5:140750142T>G ENST00000576222.1 + 1 312 c.181T>G c.(181-183)Tta>Gta p.L61V PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron NM_018924.2|NM_032097.1 NP_061747.1|NP_115268.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGTGGGGGATTTACCTACTAG 0.557000 6 142 0 0 0.021553 0 0 KCNH7 90134 broad.mit.edu 37 2 163374317 163374317 + Missense_Mutation SNP C C A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr2:163374317C>A ENST00000332142.5 - 4 914 c.815G>T c.(814-816)aGa>aTa p.R272I KCNH7_ENST00000477019.1_5'UTR|KCNH7_ENST00000328032.4_Missense_Mutation_p.R272I NM_033272.3 NP_150375.2 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 7 272 regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) CGAAGATGCTCTCCGTATACT 0.458000 5 53 5.9392e-07 6.6891e-07 0.021553 1 0 PSMB5 5693 broad.mit.edu 37 14 23502633 23502633 + Missense_Mutation SNP T T C TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr14:23502633T>C ENST00000361611.6 - 2 712 c.449A>G c.(448-450)aAa>aGa p.K150R PSMB5_ENST00000493471.2_Missense_Mutation_p.K150R|PSMB5_ENST00000460922.2_Intron|PSMB5_ENST00000425762.2_Missense_Mutation_p.K47R NM_002797.3 NP_002788.1 P28074 PSB5_HUMAN proteasome (prosome, macropain) subunit, beta type, 5 150 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|interspecies interaction between organisms|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 protein binding|threonine-type endopeptidase activity kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1) 7 all_cancers(95;3.3e-05) GBM - Glioblastoma multiforme(265;0.0121) Bortezomib(DB00188) CCCCATGCCTTTGTACTGATA 0.517000 33 69 0 0 0.019004 0 0 ODF3 113746 broad.mit.edu 37 11 197593 197593 + Missense_Mutation SNP G G A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr11:197593G>A ENST00000325113.4 + 3 459 c.142G>A c.(142-144)Gca>Aca p.A48T ODF3_ENST00000342593.5_Missense_Mutation_p.A48T|BET1L_ENST00000410108.1_Intron|ODF3_ENST00000525282.1_Missense_Mutation_p.A48T NM_053280.3 NP_444510.2 Q96PU9 ODF3A_HUMAN outer dense fiber of sperm tails 3 48 cell differentiation|multicellular organismal development|spermatogenesis cytoplasm biliary_tract(1)|breast(1)|kidney(1)|large_intestine(2)|ovary(1)|prostate(2)|skin(1) 9 all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;3.95e-27)|Epithelial(43;2.66e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.55e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122) CAAGCTGCGTGCACCGGCCTA 0.637000 20 23 0 0 0.010504 0 0 SLC35F4 341880 broad.mit.edu 37 14 58036671 58036671 + Missense_Mutation SNP C C A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr14:58036671C>A ENST00000556826.1 - 6 1197 c.961G>T c.(961-963)Gcc>Tcc p.A321S SLC35F4_ENST00000339762.6_Missense_Mutation_p.A357S|SLC35F4_ENST00000554729.1_Missense_Mutation_p.A198S NM_001206920.1 NP_001193849.1 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 CCAAAGTTGGCACTTCCAAGA 0.428000 9 12 0.00829132 0.00859983 0.008291 1 0 BRSK1 84446 broad.mit.edu 37 19 55805723 55805723 + Silent SNP A A C TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr19:55805723A>C ENST00000309383.1 + 7 913 c.636A>C c.(634-636)gcA>gcC p.A212A BRSK1_ENST00000585418.1_Silent_p.A212A|BRSK1_ENST00000590333.1_Silent_p.A228A NM_032430.1 NP_115806.1 Q8TDC3 BRSK1_HUMAN BR serine/threonine kinase 1 212 Protein kinase. 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) GCCGCCGGGCAGACATGTGGA 0.587000 10 24 0 0 0.008291 0 0 MLNR 2862 broad.mit.edu 37 13 49796405 49796405 + Silent SNP G G A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr13:49796405G>A ENST00000218721.1 + 2 1131 c.1131G>A c.(1129-1131)ccG>ccA p.P377P MLNR_ENST00000398307.1_3'UTR NM_001507.1 NP_001498.1 O43193 MTLR_HUMAN motilin receptor 377 digestion integral to plasma membrane growth hormone-releasing hormone receptor activity endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1) 14 all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;6.1e-09) AGTCCAGGCCGAGAGGCTTCC 0.552000 29 15 0 0 0.027356 0 0 CD248 57124 broad.mit.edu 37 11 66083527 66083527 + Silent SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr11:66083527C>T ENST00000311330.3 - 1 988 c.972G>A c.(970-972)caG>caA p.Q324Q RP11-867G23.13_ENST00000534065.1_RNA NM_020404.2 NP_065137.1 Q9HCU0 CD248_HUMAN CD248 molecule, endosialin 324 EGF-like; calcium-binding (Potential). integral to membrane|proteinaceous extracellular matrix calcium ion binding|sugar binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2) 26 Cefalotin(DB00456) TGACACACATCTGCTGGCACA 0.602000 17 31 0 0 0.008871 0 0 RIPK4 54101 broad.mit.edu 37 21 43166824 43166824 + Missense_Mutation SNP G G A rs67846875 TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr21:43166824G>A ENST00000352483.2 - 5 845 c.781C>T c.(781-783)Ctc>Ttc p.L261F RIPK4_ENST00000542057.1_Missense_Mutation_p.L198F|RIPK4_ENST00000332512.3_Missense_Mutation_p.L261F|RIPK4_ENST00000544709.1_Missense_Mutation_p.L198F Q96T11 Q96T11_HUMAN receptor-interacting serine-threonine kinase 4 261 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 CGCTGCATGAGGCGTATCAGG 0.672000 22 42 0 0 0.021523 0 0 ASPM 259266 broad.mit.edu 37 1 197091324 197091324 + Missense_Mutation SNP G G T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr1:197091324G>T ENST00000367409.4 - 15 3962 c.3706C>A c.(3706-3708)Cat>Aat p.H1236N ASPM_ENST00000294732.7_Missense_Mutation_p.H1236N|ASPM_ENST00000367408.1_Missense_Mutation_p.H486N NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 1236 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 ATATCTGAATGATTAATCATA 0.308000 10 40 0.000978159 0.00103379 0.010729 1 0 CD248 57124 broad.mit.edu 37 11 66083267 66083267 + Missense_Mutation SNP C C G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr11:66083267C>G ENST00000311330.3 - 1 1248 c.1232G>C c.(1231-1233)aGa>aCa p.R411T RP11-867G23.13_ENST00000534065.1_RNA NM_020404.2 NP_065137.1 Q9HCU0 CD248_HUMAN CD248 molecule, endosialin 411 Pro-rich. integral to membrane|proteinaceous extracellular matrix calcium ion binding|sugar binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2) 26 Cefalotin(DB00456) GAAGCTCGGTCTATAGGCCAG 0.647000 24 95 0 0 0.014410 0 0 KRTAP4-9 100132386 broad.mit.edu 37 17 39261731 39261731 + Missense_Mutation SNP G G C TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr17:39261731G>C ENST00000391415.1 + 1 148 c.91G>C c.(91-93)Gag>Cag p.E31Q NM_001146041.1 NP_001139513.1 Q9BYQ8 KRA49_HUMAN keratin associated protein 4-9 31 29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP]. keratin filament p.E31Q(1) central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3) 14 CAGCTGCTGTGAGACCACCTG 0.637000 4 37 0 0 0.009096 0 0 SORCS3 22986 broad.mit.edu 37 10 106982948 106982948 + Missense_Mutation SNP G G A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr10:106982948G>A ENST00000369701.3 + 20 3036 c.2809G>A c.(2809-2811)Gtg>Atg p.V937M SORCS3_ENST00000369699.4_3'UTR NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 937 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) CAGTGCAGTCGTGTGGCCCAG 0.448000 50 53 0 0 0.014410 0 0 IQCC 55721 broad.mit.edu 37 1 32671343 32671343 + Missense_Mutation SNP G G A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr1:32671343G>A ENST00000537469.1 + 1 108 c.61G>A c.(61-63)Ggt>Agt p.G21S RP4-622L5.7_ENST00000421616.1_RNA|RP4-622L5.7_ENST00000373604.4_RNA|IQCC_ENST00000291358.6_Intron NM_001160042.1 NP_001153514.1 Q4KMZ1 IQCC_HUMAN IQ motif containing C 31 IQ. endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1) 15 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) GCGGGCGCGGGGTTCACAGGA 0.632000 3 8 0 0 0.009096 0 0 ZMIZ2 83637 broad.mit.edu 37 7 44801094 44801094 + Silent SNP T T C TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr7:44801094T>C ENST00000309315.4 + 10 1410 c.1287T>C c.(1285-1287)gaT>gaC p.D429D ZMIZ2_ENST00000433667.1_Silent_p.D397D|ZMIZ2_ENST00000413916.1_Silent_p.D371D|ZMIZ2_ENST00000265346.7_Silent_p.D403D|ZMIZ2_ENST00000441627.1_Silent_p.D429D NM_031449.3 NP_113637.3 Q8NF64 ZMIZ2_HUMAN zinc finger, MIZ-type containing 2 429 positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear replication fork ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 CTGTGCGCGATGGGGTGGTCC 0.612000 5 80 0 0 0.014758 0 0 PGLYRP2 114770 broad.mit.edu 37 19 15587132 15587132 + Missense_Mutation SNP A A T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr19:15587132A>T ENST00000292609.4 - 2 478 c.349T>A c.(349-351)Tcg>Acg p.S117T PGLYRP2_ENST00000340880.4_Missense_Mutation_p.S117T Q96PD5 PGRP2_HUMAN peptidoglycan recognition protein 2 117 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1) 28 GCCACGGTCGAGCCATCAGGT 0.627000 43 68 0 0 0.014410 0 0 BTBD3 22903 broad.mit.edu 37 20 11903683 11903683 + Missense_Mutation SNP T T A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr20:11903683T>A ENST00000405977.1 + 5 1563 c.938T>A c.(937-939)cTa>cAa p.L313Q BTBD3_ENST00000254977.3_Missense_Mutation_p.L252Q|BTBD3_ENST00000378226.2_Missense_Mutation_p.L313Q|BTBD3_ENST00000399006.2_Missense_Mutation_p.L252Q Q9Y2F9 BTBD3_HUMAN BTB (POZ) domain containing 3 313 breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2) 34 CGCAAGGTTCTAGGAAAGGCA 0.463000 37 37 0 0 0.021022 0 0 MICB 4277 broad.mit.edu 37 6 31473459 31473459 + Missense_Mutation SNP C C A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr6:31473459C>A ENST00000252229.6 + 2 215 c.136C>A c.(136-138)Ctc>Atc p.L46I MICB_ENST00000399150.3_Missense_Mutation_p.L46I|MICB_ENST00000538442.1_Missense_Mutation_p.L14I NM_005931.3 NP_005922.2 Q29980 MICB_HUMAN MHC class I polypeptide-related sequence B 46 antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid integral to plasma membrane|MHC class I protein complex natural killer cell lectin-like receptor binding NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1) 13 GTCAGGGTTTCTCGCTGAGGG 0.562000 27 19 2.4375e-19 3.00311e-19 0.034045 1 0 ARHGEF26 26084 broad.mit.edu 37 3 153840472 153840472 + Missense_Mutation SNP C C G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr3:153840472C>G ENST00000356448.4 + 2 975 c.691C>G c.(691-693)Cct>Gct p.P231A ARHGEF26_ENST00000465817.1_Missense_Mutation_p.P231A|ARHGEF26_ENST00000465093.1_Missense_Mutation_p.P231A NM_001251962.1 NP_001238891.1 Q96DR7 ARHGQ_HUMAN Rho guanine nucleotide exchange factor (GEF) 26 231 regulation of Rho protein signal transduction intracellular|ruffle Rho guanyl-nucleotide exchange factor activity endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1) 23 CCTCGAGAATCCTTCCGTGGT 0.542000 12 16 0 0 0.013537 0 0 ZNF521 25925 broad.mit.edu 37 18 22806653 22806653 + Missense_Mutation SNP C C A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr18:22806653C>A ENST00000361524.3 - 4 1377 c.1229G>T c.(1228-1230)tGc>tTc p.C410F ZNF521_ENST00000584787.1_Missense_Mutation_p.C190F|ZNF521_ENST00000538137.2_Missense_Mutation_p.C410F NM_015461.2 NP_056276.1 Q96K83 ZN521_HUMAN zinc finger protein 521 410 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) TTGTTTGTTGCAGTAAATACA 0.438000 T PAX5 ALL 27 44 6.32553e-13 7.46346e-13 0.024334 1 0 C5 727 broad.mit.edu 37 9 123797114 123797114 + Missense_Mutation SNP G G C TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr9:123797114G>C ENST00000223642.1 - 5 580 c.551C>G c.(550-552)tCt>tGt p.S184C NM_001735.2 NP_001726.2 P01031 CO5_HUMAN complement component 5 184 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) GTCAGGAAAAGAGATAATTCC 0.353000 12 22 0 0 0.016723 0 0 CHRNB4 1143 broad.mit.edu 37 15 78923490 78923490 + Missense_Mutation SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr15:78923490C>T ENST00000261751.3 - 4 398 c.287G>A c.(286-288)cGc>cAc p.R96H CHRNB4_ENST00000412074.2_Missense_Mutation_p.R96H|CHRNB4_ENST00000560511.1_5'UTR NM_000750.3 NP_000741.1 P30926 ACHB4_HUMAN cholinergic receptor, nicotinic, beta 4 (neuronal) 96 regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity endometrium(7)|kidney(1)|lung(13)|prostate(1) 22 ACCCTCGTAGCGGGAGCTGTT 0.577000 27 72 0 0 0.030593 0 0 HSPH1 10808 broad.mit.edu 37 13 31711647 31711647 + Silent SNP T T C TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr13:31711647T>C ENST00000320027.5 - 18 2729 c.2385A>G c.(2383-2385)acA>acG p.T795T HSPH1_ENST00000445273.2_Silent_p.T797T|HSPH1_ENST00000380405.4_Silent_p.T751T|HSPH1_ENST00000429785.2_Silent_p.T614T|HSPH1_ENST00000380406.5_Silent_p.T754T NM_006644.2 NP_006635.2 Q92598 HS105_HUMAN heat shock 105kDa/110kDa protein 1 795 positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein cytoplasm|extracellular region ATP binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 27 Lung SC(185;0.0257) all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125) CGGGTTCACATGTGTTGTTCA 0.358000 23 22 0 0 0.018920 0 0 CD248 57124 broad.mit.edu 37 11 66083928 66083928 + Missense_Mutation SNP C C G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr11:66083928C>G ENST00000311330.3 - 1 587 c.571G>C c.(571-573)Gag>Cag p.E191Q RP11-867G23.13_ENST00000534065.1_RNA NM_020404.2 NP_065137.1 Q9HCU0 CD248_HUMAN CD248 molecule, endosialin 191 Sushi. integral to membrane|proteinaceous extracellular matrix calcium ion binding|sugar binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2) 26 Cefalotin(DB00456) GGCAGCCACTCAAACTCTGTG 0.677000 12 22 0 0 0.013537 0 0 MYH10 4628 broad.mit.edu 37 17 8383589 8383589 + Missense_Mutation SNP C C A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr17:8383589C>A ENST00000360416.3 - 40 5574 c.5436G>T c.(5434-5436)caG>caT p.Q1812H NDEL1_ENST00000299734.7_Intron|MYH10_ENST00000396239.1_Missense_Mutation_p.Q1802H|MYH10_ENST00000379980.4_Missense_Mutation_p.Q1797H|MYH10_ENST00000269243.4_Missense_Mutation_p.Q1781H NM_001256012.1 NP_001242941.1 P35580 MYH10_HUMAN myosin, heavy chain 10, non-muscle 1781 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 TGTCACTCTTCTGGGCGGCGC 0.592000 33 71 1.57351e-24 1.97131e-24 0.017118 1 0 CD248 57124 broad.mit.edu 37 11 66083244 66083244 + Missense_Mutation SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr11:66083244C>T ENST00000311330.3 - 1 1271 c.1255G>A c.(1255-1257)Gag>Aag p.E419K RP11-867G23.13_ENST00000534065.1_RNA NM_020404.2 NP_065137.1 Q9HCU0 CD248_HUMAN CD248 molecule, endosialin 419 Pro-rich. integral to membrane|proteinaceous extracellular matrix calcium ion binding|sugar binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2) 26 Cefalotin(DB00456) ATCTGTGGCTCTCTGTCCTCT 0.657000 28 107 0 0 0.014410 0 0 GJA1 2697 broad.mit.edu 37 6 121768632 121768632 + Missense_Mutation SNP G G T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr6:121768632G>T ENST00000282561.3 + 2 796 c.639G>T c.(637-639)atG>atT p.M213I NM_000165.3 NP_000156.1 P17302 CXA1_HUMAN gap junction protein, alpha 1, 43kDa 213 cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft ion transmembrane transporter activity|signal transducer activity autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2) 33 GBM - Glioblastoma multiforme(226;0.00252) Carvedilol(DB01136) TCATCTTCATGCTGGTGGTGT 0.488000 47 78 2.27781e-18 2.79094e-18 0.014410 1 0 RP11-45M22.4 0 broad.mit.edu 37 17 17120410 17120410 + Missense_Mutation SNP G G A rs150752548 TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr17:17120410G>A ENST00000427497.3 - 6 771 c.271C>T c.(271-273)Cgt>Tgt p.R91C FLCN_ENST00000285071.4_Silent_p.L383L CTGACTGGACGAGGTCCACGT 0.567000 12 29 0 0 0.013537 0 0 HS1BP3 64342 broad.mit.edu 37 2 20818936 20818936 + Silent SNP G G T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr2:20818936G>T ENST00000304031.3 - 7 1015 c.990C>A c.(988-990)ccC>ccA p.P330P NM_022460.3 NP_071905.3 Q53T59 H1BP3_HUMAN HCLS1 binding protein 3 330 Pro-rich. cell communication phosphatidylinositol binding endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2) 15 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTGGTggcttgggcttaagct 0.602000 37 67 1.90571e-15 2.29715e-15 0.019004 1 0 MBD1 4152 broad.mit.edu 37 18 47799236 47799236 + Silent SNP T T C TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr18:47799236T>C ENST00000591416.1 - 14 2105 c.1674A>G c.(1672-1674)aaA>aaG p.K558K MBD1_ENST00000349085.2_Silent_p.K456K|MBD1_ENST00000588937.1_Silent_p.K489K|MBD1_ENST00000591535.1_Silent_p.K489K|MBD1_ENST00000339998.6_Silent_p.K512K|MBD1_ENST00000269468.5_Silent_p.K558K|MBD1_ENST00000353909.3_Silent_p.K509K|MBD1_ENST00000457839.2_Silent_p.K583K|MBD1_ENST00000587605.1_Silent_p.K456K|MBD1_ENST00000585672.1_Silent_p.K508K|MBD1_ENST00000269471.5_Silent_p.K489K|MBD1_ENST00000398493.1_Silent_p.K502K|MBD1_ENST00000398495.2_Silent_p.K527K|MBD1_ENST00000382948.5_Silent_p.K558K|MBD1_ENST00000590208.1_Silent_p.K558K|MBD1_ENST00000424334.2_Silent_p.K609K|MBD1_ENST00000347968.3_Silent_p.K502K|MBD1_ENST00000398488.1_Silent_p.K456K|MBD1_ENST00000436910.1_Silent_p.K489K|MBD1_ENST00000585595.1_Silent_p.K583K Q9UIS9 MBD1_HUMAN methyl-CpG binding domain protein 1 558 TRD. negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|nuclear speck methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 CTGGGGCCAATTTGGAGGCAG 0.607000 3 49 0 0 0.004672 0 0 NPAP1 23742 broad.mit.edu 37 15 24921325 24921325 + Missense_Mutation SNP A A C TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr15:24921325A>C ENST00000329468.2 + 1 785 c.311A>C c.(310-312)aAc>aCc p.N104T NM_018958.2 NP_061831.2 nuclear pore associated protein 1 CCTGCTCGGAACCCCCCGAGG 0.682000 4 49 0 0 0.009096 0 0 MNT 4335 broad.mit.edu 37 17 2290453 2290453 + Silent SNP G G C TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr17:2290453G>C ENST00000174618.4 - 6 1896 c.1491C>G c.(1489-1491)acC>acG p.T497T NM_020310.2 NP_064706.1 Q99583 MNT_HUMAN MAX network transcriptional repressor 497 multicellular organismal development|negative regulation of cell proliferation|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity endometrium(4)|large_intestine(5)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 12 Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05) CATGGTTGAGGGTGGCAGGGT 0.682000 7 5 0 0 0.004482 0 0 ZC3H11A 9877 broad.mit.edu 37 1 203786208 203786208 + Missense_Mutation SNP C C G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr1:203786208C>G ENST00000545588.1 + 2 3837 c.10C>G c.(10-12)Caa>Gaa p.Q4E ZC3H11A_ENST00000367214.1_Missense_Mutation_p.Q4E|ZC3H11A_ENST00000332127.4_Missense_Mutation_p.Q4E|ZC3H11A_ENST00000367212.3_Missense_Mutation_p.Q4E|ZC3H11A_ENST00000367210.1_Missense_Mutation_p.Q4E NM_001271675.1 NP_001258604.1 O75152 ZC11A_HUMAN zinc finger CCCH-type containing 11A 4 nucleic acid binding|protein binding|zinc ion binding central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 32 all_cancers(21;0.0904)|all_epithelial(62;0.234) BRCA - Breast invasive adenocarcinoma(75;0.109) CATGCCTAATCAAGGAGAAGA 0.388000 16 89 0 0 0.038395 0 0 CC2D2B 387707 broad.mit.edu 37 10 97779477 97779477 + Missense_Mutation SNP C C G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr10:97779477C>G ENST00000344386.3 + 8 840 c.676C>G c.(676-678)Caa>Gaa p.Q226E ENTPD1-AS1_ENST00000451364.1_RNA|CC2D2B_ENST00000410012.2_Missense_Mutation_p.Q226E|ENTPD1-AS1_ENST00000452728.1_RNA|ENTPD1-AS1_ENST00000454638.1_RNA|ENTPD1-AS1_ENST00000458228.1_RNA|CC2D2B_ENST00000371198.2_Intron|RP11-690P14.4_ENST00000475252.2_Intron|ENTPD1-AS1_ENST00000416301.1_RNA NM_001001732.3 NP_001001732.2 Q6DHV5 C2D2B_HUMAN coiled-coil and C2 domain containing 2B 226 large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1) 10 Colorectal(252;0.158) Epithelial(162;7.08e-08)|all cancers(201;2.71e-06) TAATATTCAACAAAATAATAC 0.333000 34 126 0 0 0.012213 0 0 MUC5B 727897 broad.mit.edu 37 11 1266085 1266085 + Missense_Mutation SNP C C G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr11:1266085C>G ENST00000447027.1 + 31 8042 c.7984C>G c.(7984-7986)Ccc>Gcc p.P2662A MUC5B_ENST00000529681.1_Missense_Mutation_p.P2659A|RP11-532E4.2_ENST00000532061.2_RNA Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 2659 11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich. Missing (in Ref. 6; AAB61398). cell adhesion extracellular region extracellular matrix structural constituent|protein binding p.P2638A(1) 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) CACCCACACCCCCACAGTGCT 0.617000 3 54 0 0 0.009096 0 0 FUT2 2524 broad.mit.edu 37 19 49206855 49206855 + Missense_Mutation SNP G G C TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr19:49206855G>C ENST00000425340.2 + 2 759 c.642G>C c.(640-642)aaG>aaC p.K214N FUT2_ENST00000391876.4_Missense_Mutation_p.K214N NM_000511.5|NM_001097638.2 NP_000502.4|NP_001091107.1 Q10981 FUT2_HUMAN fucosyltransferase 2 (secretor status included) 214 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane galactoside 2-alpha-L-fucosyltransferase activity breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2) 7 all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017) AAGTGTGGAAGGGGGTGGTGG 0.627000 34 54 0 0 0.019004 0 0 TBCK 93627 broad.mit.edu 37 4 107165855 107165855 + Missense_Mutation SNP C C G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr4:107165855C>G ENST00000273980.4 - 12 1445 c.998G>C c.(997-999)gGa>gCa p.G333A TBCK_ENST00000394706.3_Missense_Mutation_p.G294A|TBCK_ENST00000394708.2_Missense_Mutation_p.G333A|TBCK_ENST00000432496.2_Missense_Mutation_p.G333A|TBCK_ENST00000361687.4_Missense_Mutation_p.G270A Q8TEA7 TBCK_HUMAN TBC1 domain containing kinase 333 intracellular Rab GTPase activator activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1) 25 CAAGTCACCTCCAGCCAAACA 0.363000 18 12 0 0 0.043863 0 0 PTPLAD2 401494 broad.mit.edu 37 9 21029378 21029378 + Missense_Mutation SNP G G A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr9:21029378G>A ENST00000495827.1 - 2 103 c.58C>T c.(58-60)Ctt>Ttt p.L20F PTPLAD2_ENST00000513293.2_Missense_Mutation_p.L20F NM_001010915.3 NP_001010915.2 Q5VWC8 HACD4_HUMAN protein tyrosine phosphatase-like A domain containing 2 20 fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane lyase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1) 10 Lung(24;6.02e-14)|LUSC - Lung squamous cell carcinoma(38;1.29e-10) TAGATGAAAAGATACGCATTC 0.328000 23 73 0 0 0.016522 0 0 SNX4 8723 broad.mit.edu 37 3 125172710 125172710 + Silent SNP T T C TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr3:125172710T>C ENST00000251775.4 - 12 1158 c.1134A>G c.(1132-1134)ctA>ctG p.L378L SNX4_ENST00000536067.1_Silent_p.L233L NM_003794.2 NP_003785.1 O95219 SNX4_HUMAN sorting nexin 4 378 cell communication|endocytic recycling|endocytosis|protein transport cytoplasmic dynein complex|early endosome membrane phosphatidylinositol binding|protein binding breast(2)|central_nervous_system(1)|lung(6)|ovary(1)|skin(1) 11 TTTGTTCTTCTAGCACCTTTA 0.393000 20 46 0 0 0.012319 0 0 ZNF750 79755 broad.mit.edu 37 17 80790003 80790003 + Missense_Mutation SNP C C G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr17:80790003C>G ENST00000269394.3 - 2 1161 c.328G>C c.(328-330)Gac>Cac p.D110H ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000355528.4_Intron|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000397466.2_Intron NM_024702.2 NP_078978.2 Q32MQ0 ZN750_HUMAN zinc finger protein 750 110 intracellular zinc ion binding NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 31 Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0514)|all_epithelial(8;0.0748) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149) TCCTTGATGTCTTCCCTGGCA 0.612000 9 55 0 0 0.008291 0 0 GOLIM4 27333 broad.mit.edu 37 3 167747722 167747722 + Missense_Mutation SNP G G C TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr3:167747722G>C ENST00000470487.1 - 10 1968 c.1279C>G c.(1279-1281)Ctg>Gtg p.L427V GOLIM4_ENST00000309027.4_Missense_Mutation_p.L399V NM_014498.3 NP_055313.1 O00461 GOLI4_HUMAN golgi integral membrane protein 4 427 Gln-rich.|Glu-rich. transport cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 tgttcccgcagctgctgGGCC 0.577000 30 112 0 0 0.045705 0 0 ZNF394 84124 broad.mit.edu 37 7 99091989 99091989 + Silent SNP A A G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr7:99091989A>G ENST00000337673.6 - 3 1052 c.849T>C c.(847-849)aaT>aaC p.N283N ZNF394_ENST00000426306.2_3'UTR|ZNF789_ENST00000494186.1_Intron|ZNF789_ENST00000493485.1_Intron NM_032164.2 NP_115540.2 Q53GI3 ZN394_HUMAN zinc finger protein 394 283 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1) 16 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) GCAATTCATTATTTTTAGAGT 0.458000 9 103 0 0 0.004482 0 0 KCNQ3 3786 broad.mit.edu 37 8 133141630 133141630 + Missense_Mutation SNP A A T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr8:133141630A>T ENST00000388996.4 - 15 2918 c.2498T>A c.(2497-2499)cTc>cAc p.L833H KCNQ3_ENST00000521134.1_Missense_Mutation_p.L713H|KCNQ3_ENST00000519445.1_Missense_Mutation_p.L821H NM_004519.3 NP_004510.1 O43525 KCNQ3_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 3 833 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 70 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) ACCCTCGGCGAGGTACCGCTT 0.597000 8 34 0 0 0.004482 0 0 COL12A1 1303 broad.mit.edu 37 6 75851809 75851809 + Silent SNP G G A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr6:75851809G>A ENST00000322507.8 - 27 5205 c.4896C>T c.(4894-4896)gtC>gtT p.V1632V COL12A1_ENST00000483888.2_Silent_p.V1632V|COL12A1_ENST00000416123.2_Silent_p.V1632V|COL12A1_ENST00000345356.6_Silent_p.V468V NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 1632 Fibronectin type-III 11. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 CAGAAACGCTGACTGTGTACA 0.493000 47 61 0 0 0.014410 0 0 PIGS 94005 broad.mit.edu 37 17 26882020 26882020 + Missense_Mutation SNP G G C TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr17:26882020G>C ENST00000308360.7 - 11 1616 c.1241C>G c.(1240-1242)aCg>aGg p.T414R PIGS_ENST00000395346.2_Missense_Mutation_p.T406R|PIGS_ENST00000543734.1_Missense_Mutation_p.T353R NM_033198.3 NP_149975.1 Q96S52 PIGS_HUMAN phosphatidylinositol glycan anchor biosynthesis, class S 414 attachment of GPI anchor to protein|C-terminal protein lipidation GPI-anchor transamidase complex protein binding breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Lung NSC(42;0.00431) CCCTTCACTCGTAGGCCCTGA 0.592000 18 25 0 0 0.043863 0 0 ERCC6L 54821 broad.mit.edu 37 X 71426165 71426165 + Missense_Mutation SNP A A C TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chrX:71426165A>C ENST00000373657.1 - 3 2685 c.2083T>G c.(2083-2085)Ttt>Gtt p.F695V PIN4_ENST00000423432.2_Intron|ERCC6L_ENST00000334463.3_Missense_Mutation_p.F818V Q2NKX8 ERC6L_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6-like 818 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol ATP binding|DNA binding|helicase activity|protein binding breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1) 38 Renal(35;0.156) ACACTTCCAAACCCCTTTGGT 0.383000 23 10 0 0 0.014323 0 0 SRRM1 10250 broad.mit.edu 37 1 24978993 24978993 + Missense_Mutation SNP C C G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr1:24978993C>G ENST00000323848.9 + 7 1109 c.794C>G c.(793-795)tCc>tGc p.S265C SRRM1_ENST00000447431.2_Missense_Mutation_p.S265C|SRRM1_ENST00000374389.4_Missense_Mutation_p.S265C|SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000537199.1_Missense_Mutation_p.S134C NM_005839.3 NP_005830.2 Q8IYB3 SRRM1_HUMAN serine/arginine repetitive matrix 1 265 Arg-rich.|Pro-rich. mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck DNA binding|protein binding|RNA binding breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2) 36 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138) GAAAAAAATTCCAAAAAAGAA 0.448000 10 11 0 0 0.006214 0 0 ZMAT4 79698 broad.mit.edu 37 8 40554847 40554847 + Missense_Mutation SNP A A G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr8:40554847A>G ENST00000297737.6 - 4 412 c.266T>C c.(265-267)gTg>gCg p.V89A ZMAT4_ENST00000315769.7_Missense_Mutation_p.V89A NM_024645.2 NP_078921.1 Q9H898 ZMAT4_HUMAN zinc finger, matrin-type 4 89 nucleus DNA binding|zinc ion binding NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 18 Ovarian(28;0.00724)|Colorectal(14;0.0468) all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152) LUSC - Lung squamous cell carcinoma(45;0.00722) GGAATCGGCCACCACCGCTGA 0.502000 23 62 0 0 0.014323 0 0 ZRANB3 84083 broad.mit.edu 37 2 135988170 135988170 + Missense_Mutation SNP C C G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr2:135988170C>G ENST00000401392.1 - 13 2079 c.1867G>C c.(1867-1869)Gag>Cag p.E623Q ZRANB3_ENST00000264159.6_Missense_Mutation_p.E623Q|ZRANB3_ENST00000412849.1_5'UTR|ZRANB3_ENST00000536680.1_Missense_Mutation_p.E623Q Q5FWF4 ZRAB3_HUMAN zinc finger, RAN-binding domain containing 3 623 intracellular ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.135) TGCCAGCCCTCTACAGGAAAG 0.488000 21 35 0 0 0.010504 0 0 KCNJ11 3767 broad.mit.edu 37 11 17409554 17409554 + Missense_Mutation SNP G G A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr11:17409554G>A ENST00000339994.4 - 1 652 c.85C>T c.(85-87)Cgc>Tgc p.R29C KCNJ11_ENST00000528731.1_Intron NM_000525.3 NP_000516.3 B4DWI4 B4DWI4_HUMAN potassium inwardly-rectifying channel, subfamily J, member 11 0 integral to membrane ATP-activated inward rectifier potassium channel activity endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2) 16 READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633) CTCCGCTGGCGGGCACGGTAC 0.652000 24 50 0 0 0.018920 0 0 VPS13B 157680 broad.mit.edu 37 8 100880545 100880545 + Silent SNP G G A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr8:100880545G>A ENST00000358544.2 + 59 11430 c.11319G>A c.(11317-11319)ccG>ccA p.P3773P VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.P3748P NM_017890.4 NP_060360.3 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 3773 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) TTGATCAGCCGATGCAGAACT 0.493000 17 50 0 0 0.033300 0 0 OTUD5 55593 broad.mit.edu 37 X 48780923 48780923 + Silent SNP G G T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chrX:48780923G>T ENST00000156084.4 - 8 1641 c.1581C>A c.(1579-1581)tcC>tcA p.S527S OTUD5_ENST00000396743.3_Silent_p.S522S|OTUD5_ENST00000376488.3_Silent_p.S522S|OTUD5_ENST00000428668.2_Silent_p.S305S NM_017602.3 NP_060072.1 Q96G74 OTUD5_HUMAN OTU domain containing 5 527 negative regulation of type I interferon production cysteine-type peptidase activity endometrium(2)|large_intestine(3)|lung(6)|pancreas(2) 13 AGGCAGAGGGGGACATCTGCT 0.607000 8 3 0.000157383 0.000167926 0.038147 1 0 NBPF9 400818 broad.mit.edu 37 1 144828684 144828684 + Missense_Mutation SNP A A G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr1:144828684A>G ENST00000338347.4 + 14 1730 c.1730A>G c.(1729-1731)cAg>cGg p.Q577R NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000281815.8_Missense_Mutation_p.Q175R|NBPF9_ENST00000440491.2_3'UTR neuroblastoma breakpoint family, member 9 NS(2)|prostate(1) 3 TTTGAGGAACAGCACATCAGC 0.433000 11 388 0 0 0.020292 0 0 ACIN1 22985 broad.mit.edu 37 14 23535181 23535181 + Missense_Mutation SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr14:23535181C>T ENST00000262710.1 - 10 2803 c.2476G>A c.(2476-2478)Gtt>Att p.V826I ACIN1_ENST00000357481.2_Missense_Mutation_p.V68I|ACIN1_ENST00000605057.1_Missense_Mutation_p.V768I|ACIN1_ENST00000457657.1_Missense_Mutation_p.V786I|ACIN1_ENST00000397341.3_Missense_Mutation_p.V68I|ACIN1_ENST00000557515.1_Missense_Mutation_p.V68I|ACIN1_ENST00000338631.6_Missense_Mutation_p.V99I|ACIN1_ENST00000555053.1_Missense_Mutation_p.V826I NM_001164814.1|NM_014977.3 NP_001158286.1|NP_055792.1 Q9UKV3 ACINU_HUMAN apoptotic chromatin condensation inducer 1 826 apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation cytosol ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 37 all_cancers(95;1.36e-05) GBM - Glioblastoma multiforme(265;0.00816) TTACAGACAACGGAGATCTTC 0.433000 15 39 0 0 0.043863 0 0 TNNI2 7136 broad.mit.edu 37 11 1862048 1862048 + Splice_Site SNP G G A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr11:1862048G>A ENST00000381906.1 + 6 255 c.e6-1 TNNI2_ENST00000252898.7_Splice_Site|TNNI2_ENST00000381911.1_Splice_Site|TNNI2_ENST00000381905.3_Splice_Site NM_001145829.1 NP_001139301.1 P48788 TNNI2_HUMAN troponin I type 2 (skeletal, fast) muscle filament sliding|positive regulation of transcription, DNA-dependent|skeletal muscle contraction cytosol|nucleus|troponin complex actin binding|troponin T binding lung(8)|prostate(1)|urinary_tract(1) 10 all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) CCCACCCCTAGGAGCTCTGCA 0.637000 7 10 0 0 0.038147 0 0 CD248 57124 broad.mit.edu 37 11 66084084 66084084 + Missense_Mutation SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr11:66084084C>T ENST00000311330.3 - 1 431 c.415G>A c.(415-417)Gag>Aag p.E139K RP11-867G23.13_ENST00000534065.1_RNA NM_020404.2 NP_065137.1 Q9HCU0 CD248_HUMAN CD248 molecule, endosialin 139 C-type lectin. integral to membrane|proteinaceous extracellular matrix calcium ion binding|sugar binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2) 26 Cefalotin(DB00456) CAGCGGTGCTCGCCACTTGCC 0.706000 21 17 0 0 0.014323 0 0 LPAR4 2846 broad.mit.edu 37 X 78011180 78011180 + Missense_Mutation SNP T T G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chrX:78011180T>G ENST00000435339.2 + 2 1219 c.814T>G c.(814-816)Tat>Gat p.Y272D LPAR4_ENST00000373301.2_Missense_Mutation_p.Y272D NM_005296.2 NP_005287.1 Q99677 LPAR4_HUMAN lysophosphatidic acid receptor 4 272 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 CCTCTTCTTGTATGCCCTGGT 0.408000 21 9 0 0 0.010504 0 0 CST9L 128821 broad.mit.edu 37 20 23545618 23545618 + Silent SNP G G C TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr20:23545618G>C ENST00000376979.3 - 3 709 c.411C>G c.(409-411)ctC>ctG p.L137L NM_080610.2 NP_542177.1 Q9H4G1 CST9L_HUMAN cystatin 9-like 137 extracellular region cysteine-type endopeptidase inhibitor activity breast(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1) 8 Colorectal(13;0.0431)|Lung NSC(19;0.235) TCTTGTTCAGGAGGCTGAACT 0.552000 21 19 0 0 0.018920 0 0 AHCYL2 23382 broad.mit.edu 37 7 129043233 129043233 + Missense_Mutation SNP G G C TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr7:129043233G>C ENST00000325006.3 + 7 986 c.932G>C c.(931-933)gGa>gCa p.G311A AHCYL2_ENST00000446212.1_Missense_Mutation_p.G209A|AHCYL2_ENST00000531335.2_Missense_Mutation_p.G230A|AHCYL2_ENST00000490911.1_Missense_Mutation_p.G208A|AHCYL2_ENST00000474594.1_Missense_Mutation_p.G208A|AHCYL2_ENST00000446544.2_Missense_Mutation_p.G310A NM_001130720.2|NM_015328.3 NP_001124192.1|NP_056143.1 Q96HN2 SAHH3_HUMAN adenosylhomocysteinase-like 2 311 one-carbon metabolic process adenosylhomocysteinase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 22 TTGGATGATGGAGGGGATCTT 0.403000 30 54 0 0 0.012213 0 0 CELSR3 1951 broad.mit.edu 37 3 48694603 48694603 + Silent SNP G G A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr3:48694603G>A ENST00000544264.1 - 2 4207 c.3927C>T c.(3925-3927)gaC>gaT p.D1309D CELSR3_ENST00000164024.4_Silent_p.D1309D Q9NYQ7 CELR3_HUMAN cadherin, EGF LAG seven-pass G-type receptor 3 1309 homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) AGATGAAGACGTCCTCAGCGG 0.657000 9 14 0 0 0.006214 0 0 SNX33 257364 broad.mit.edu 37 15 75942185 75942185 + Missense_Mutation SNP A A G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr15:75942185A>G ENST00000308527.5 + 1 1939 c.742A>G c.(742-744)Agc>Ggc p.S248G NM_153271.1 NP_695003.1 Q8WV41 SNX33_HUMAN sorting nexin 33 248 PX. cell communication phosphatidylinositol binding|protein binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2) 19 GGGCATCAAAAGCTACATCTC 0.547000 12 212 0 0 0.016723 0 0 UBR2 23304 broad.mit.edu 37 6 42603184 42603184 + Missense_Mutation SNP G G A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr6:42603184G>A ENST00000372899.1 + 14 1832 c.1574G>A c.(1573-1575)gGa>gAa p.G525E UBR2_ENST00000372883.3_Missense_Mutation_p.G29E|UBR2_ENST00000372901.1_Missense_Mutation_p.G525E NM_015255.2 NP_056070.1 Q8IWV8 UBR2_HUMAN ubiquitin protein ligase E3 component n-recognin 2 525 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) CGTCAAGTAGGACAACATATT 0.348000 16 10 0 0 0.028581 0 0 TRMT10C 54931 broad.mit.edu 37 3 101283915 101283915 + Missense_Mutation SNP T T G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr3:101283915T>G ENST00000309922.6 + 2 444 c.290T>G c.(289-291)tTc>tGc p.F97C NM_017819.2 NP_060289.2 tRNA methyltransferase 10 homolog C (S. cerevisiae) ACCAGAGAGTTCATTGAGATG 0.403000 14 60 0 0 0.028581 0 0 SLC6A4 6532 broad.mit.edu 37 17 28537590 28537590 + Silent SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr17:28537590C>T ENST00000401766.2 - 10 1904 c.1392G>A c.(1390-1392)cgG>cgA p.R464R SLC6A4_ENST00000261707.3_Silent_p.R464R P31645 SC6A4_HUMAN solute carrier family 6 (neurotransmitter transporter), member 4 464 response to toxin|serotonin uptake|thalamus development cytosol|endomembrane system|endosome membrane|membrane raft actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4) 25 Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832) CGAGCACGAACCGCTCCCGGC 0.597000 12 48 0 0 0.013537 0 0 ANKAR 150709 broad.mit.edu 37 2 190584297 190584297 + Splice_Site SNP G G A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr2:190584297G>A ENST00000520309.1 + 11 2312 c.e11-1 ANKAR_ENST00000281412.6_Splice_Site|ANKAR_ENST00000313581.4_Splice_Site|ANKAR_ENST00000438402.2_Splice_Site|ANKAR_ENST00000431575.2_Splice_Site NM_144708.3 NP_653309.3 Q7Z5J8 ANKAR_HUMAN ankyrin and armadillo repeat containing 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) TGTCATTACAGGCACCATTCC 0.313000 4 117 0 0 0.014758 0 0 POM121L9P 29774 broad.mit.edu 37 22 24659578 24659578 + RNA SNP A A G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr22:24659578A>G ENST00000414583.2 + 0 3103 NR_003714.1 TGCGCAGGCCAACACTCACTG 0.617000 5 21 0 0 0.014758 0 0 KIAA0556 23247 broad.mit.edu 37 16 27765493 27765493 + Splice_Site SNP G G A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr16:27765493G>A ENST00000261588.4 + 18 3571 c.e18-1 NM_015202.2 NP_056017.2 O60303 K0556_HUMAN KIAA0556 breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 76 CCCATGTGCAGATCCCGGAGC 0.562000 31 30 0 0 0.017118 0 0 FILIP1L 11259 broad.mit.edu 37 3 99569270 99569270 + Missense_Mutation SNP A A C TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr3:99569270A>C ENST00000331335.5 - 5 1720 c.1250T>G c.(1249-1251)gTt>gGt p.V417G CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000487087.1_5'UTR|FILIP1L_ENST00000383694.2_Missense_Mutation_p.V177G|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000354552.3_Missense_Mutation_p.V417G|FILIP1L_ENST00000476723.1_Intron|FILIP1L_ENST00000471562.1_Missense_Mutation_p.V177G NM_001042459.1 NP_001035924.1 Q4L180 FIL1L_HUMAN filamin A interacting protein 1-like 417 cytoplasm|membrane|myosin complex|nucleus breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 35 GAGTTTTTCAACCTCTAGTTT 0.368000 45 46 0 0 0.036044 0 0 EXD2 55218 broad.mit.edu 37 14 69704290 69704290 + Splice_Site SNP A A G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr14:69704290A>G ENST00000409014.1 + 10 1574 c.e10-1 EXD2_ENST00000492815.1_Splice_Site|EXD2_ENST00000449989.1_Splice_Site|EXD2_ENST00000409949.1_Splice_Site|EXD2_ENST00000409675.1_Splice_Site|EXD2_ENST00000409242.1_Splice_Site|EXD2_ENST00000409018.3_Splice_Site|EXD2_ENST00000312994.5_Splice_Site NM_001193360.1 NP_001180289.1 Q9NVH0 EXD2_HUMAN exonuclease 3'-5' domain containing 2 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process intracellular 3'-5' exonuclease activity|nucleic acid binding breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1) 14 GGCTTGTTCCAGGAAGAACGT 0.552000 14 23 0 0 0.024245 0 0 HRASLS2 54979 broad.mit.edu 37 11 63325937 63325937 + Missense_Mutation SNP G G A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr11:63325937G>A ENST00000255695.1 - 3 372 c.314C>T c.(313-315)cCt>cTt p.P105L NM_017878.1 NP_060348.1 Q9NWW9 HRSL2_HUMAN HRAS-like suppressor 2 105 lipid catabolic process cytoplasm acyltransferase activity|hydrolase activity breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1) 6 CAGCGAATAAGGCAACTCCTG 0.547000 12 46 0 0 0.013537 0 0 WNT8A 7478 broad.mit.edu 37 5 137426396 137426396 + Silent SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr5:137426396C>T ENST00000506684.1 + 5 980 c.744C>T c.(742-744)agC>agT p.S248S WNT8A_ENST00000398754.1_Silent_p.S230S Q9H1J5 WNT8A_HUMAN wingless-type MMTV integration site family, member 8A 230 brain segmentation|canonical Wnt receptor signaling pathway involved in neural crest cell differentiation|cell migration involved in gastrulation|dorsal/ventral pattern formation|ectoderm development|endoderm development|eye development|hindbrain development|mesodermal cell fate commitment|negative regulation of Wnt receptor signaling pathway|neural crest cell fate commitment|neural plate pattern specification|notochord development|palate development|polarity specification of anterior/posterior axis|polarity specification of proximal/distal axis|positive regulation of fibroblast growth factor receptor signaling pathway|regulation of transcription involved in anterior/posterior axis specification|response to retinoic acid|somitogenesis|spinal cord anterior/posterior patterning|tail morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix frizzled binding|signal transducer activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2) 18 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) CTGGGAACAGCGCCGAGGGCC 0.542000 19 28 0 0 0.038395 0 0 COPB2 9276 broad.mit.edu 37 3 139092255 139092255 + Splice_Site SNP C C A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr3:139092255C>A ENST00000333188.5 - 9 1076 c.e9-1 COPB2_ENST00000507777.1_Splice_Site NM_004766.2 NP_004757.1 P35606 COPB2_HUMAN coatomer protein complex, subunit beta 2 (beta prime) COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol protein binding|structural molecule activity breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 24 CCCGACCAAGCTGAAAGAAAG 0.408000 9 29 3.09899e-07 3.50799e-07 0.004482 1 0 SEL1L 6400 broad.mit.edu 37 14 81965995 81965995 + Missense_Mutation SNP A A T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr14:81965995A>T ENST00000336735.4 - 7 905 c.789T>A c.(787-789)ttT>ttA p.F263L SEL1L_ENST00000555824.1_Missense_Mutation_p.F263L NM_005065.5 NP_005056.3 Q9UBV2 SE1L1_HUMAN sel-1 suppressor of lin-12-like (C. elegans) 263 Interaction with ERLEC1, OS9 and SYVN1. Notch signaling pathway endoplasmic reticulum membrane|integral to membrane protein binding breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3) 28 BRCA - Breast invasive adenocarcinoma(234;0.0299) AGGCATACAGAAAGCCAAGAG 0.338000 8 34 0 0 0.006214 0 0 JAG1 182 broad.mit.edu 37 20 10620273 10620273 + Missense_Mutation SNP G G A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr20:10620273G>A ENST00000254958.5 - 26 4045 c.3530C>T c.(3529-3531)aCg>aTg p.T1177M JAG1_ENST00000423891.2_Missense_Mutation_p.T1018M NM_000214.2 NP_000205.1 P78504 JAG1_HUMAN jagged 1 1177 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 GTCTACCAGCGTGTACGCCGG 0.507000 Alagille Syndrome 82 41 0 0 0.014410 0 0 TMEM5 10329 broad.mit.edu 37 12 64202512 64202512 + Missense_Mutation SNP G G C TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr12:64202512G>C ENST00000537373.1 + 6 1140 c.192G>C c.(190-192)caG>caC p.Q64H TMEM5_ENST00000261234.6_Missense_Mutation_p.Q324H NM_001278237.1 NP_001265166.1 Q9Y2B1 TMEM5_HUMAN transmembrane protein 5 324 integral to plasma membrane breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1) 15 Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(9;0.0985) GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175) CCTTGCTTCAGAGTGATCTCA 0.428000 27 60 0 0 0.027356 0 0 TMEM135 65084 broad.mit.edu 37 11 87016978 87016978 + Splice_Site SNP A A G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr11:87016978A>G ENST00000340353.7 + 8 835 c.632_splice c.e8-1 p.I211_splice TMEM135_ENST00000305494.5_Splice_Site_p.I233_splice|TMEM135_ENST00000532959.1_Splice_Site_p.I104_splice|TMEM135_ENST00000535167.1_Splice_Site_p.I94_splice NM_001168724.1 NP_001162195.1 Q86UB9 TM135_HUMAN transmembrane protein 135 233 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) TCAATTTCAGATGCAAACATG 0.284000 18 25 0 0 0.043863 0 0 CD248 57124 broad.mit.edu 37 11 66083847 66083847 + Missense_Mutation SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr11:66083847C>T ENST00000311330.3 - 1 668 c.652G>A c.(652-654)Gag>Aag p.E218K RP11-867G23.13_ENST00000534065.1_RNA NM_020404.2 NP_065137.1 Q9HCU0 CD248_HUMAN CD248 molecule, endosialin 218 Sushi. integral to membrane|proteinaceous extracellular matrix calcium ion binding|sugar binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2) 26 Cefalotin(DB00456) ACACCTCCCTCAGGCTGCTTC 0.667000 24 20 0 0 0.021523 0 0 SEL1L 6400 broad.mit.edu 37 14 81965994 81965994 + Missense_Mutation SNP G G T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr14:81965994G>T ENST00000336735.4 - 7 906 c.790C>A c.(790-792)Ctg>Atg p.L264M SEL1L_ENST00000555824.1_Missense_Mutation_p.L264M NM_005065.5 NP_005056.3 Q9UBV2 SE1L1_HUMAN sel-1 suppressor of lin-12-like (C. elegans) 264 Interaction with ERLEC1, OS9 and SYVN1. Notch signaling pathway endoplasmic reticulum membrane|integral to membrane protein binding breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3) 28 BRCA - Breast invasive adenocarcinoma(234;0.0299) GAGGCATACAGAAAGCCAAGA 0.338000 8 34 1.76689e-08 2.04154e-08 0.006214 1 0 PLEKHM2 23207 broad.mit.edu 37 1 16046240 16046240 + Silent SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr1:16046240C>T ENST00000375799.3 + 6 704 c.477C>T c.(475-477)taC>taT p.Y159Y PLEKHM2_ENST00000375793.2_Silent_p.Y159Y NM_015164.2 NP_055979.2 Q8IWE5 PKHM2_HUMAN pleckstrin homology domain containing, family M (with RUN domain) member 2 159 Interaction with KIF5B. Golgi organization cytoplasm kinesin binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 12 Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657) ATGCCCCTTACCTAGACCTGG 0.607000 27 20 0 0 0.045705 0 0 LRP2 4036 broad.mit.edu 37 2 169989168 169989168 + Silent SNP A A G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr2:169989168A>G ENST00000263816.3 - 77 13929 c.13644T>C c.(13642-13644)gaT>gaC p.D4548D NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 4548 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) AATTCTTATTATCCACATTTT 0.383000 25 52 0 0 0.024334 0 0 TEKT5 146279 broad.mit.edu 37 16 10788556 10788556 + Missense_Mutation SNP C C T rs16957557 byFrequency TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr16:10788556C>T ENST00000283025.2 - 1 246 c.175G>A c.(175-177)Gcc>Acc p.A59T NM_144674.1 NP_653275.1 Q96M29 TEKT5_HUMAN tektin 5 59 A -> T (in dbSNP:rs16957557). microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4) 34 TGGACGTTGGCTATCTTGTAG 0.607000 3 50 0 0 0.004672 0 0 TTN 7273 broad.mit.edu 37 2 179534354 179534354 + Missense_Mutation SNP G G A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr2:179534354G>A ENST00000589042.1 - 158 35659 c.35435C>T c.(35434-35436)gCt>gTt p.A11812V TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 9935 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) TTTCAGAACAGCTTCACGAAC 0.333000 51 96 0 0 0.014410 0 0 COL16A1 1307 broad.mit.edu 37 1 32140630 32140630 + Missense_Mutation SNP G G C TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr1:32140630G>C ENST00000373672.3 - 44 3353 c.2837C>G c.(2836-2838)cCa>cGa p.P946R COL16A1_ENST00000271069.6_Intron NM_001856.3 NP_001847.3 Q07092 COGA1_HUMAN collagen, type XVI, alpha 1 946 Nonhelical region 4 (NC4). 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) CTGTTCAATTGGTAAGGATCC 0.542000 7 11 0 0 0.038147 0 0 TEP1 7011 broad.mit.edu 37 14 20837659 20837659 + Silent SNP G G A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr14:20837659G>A ENST00000262715.5 - 53 7540 c.7500C>T c.(7498-7500)acC>acT p.T2500T TEP1_ENST00000556935.1_Silent_p.T2392T NM_007110.4 NP_009041.2 Q99973 TEP1_HUMAN telomerase-associated protein 1 2500 telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 96 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) TGTTACCTGTGGTCCATTCTC 0.488000 5 73 0 0 0.021553 0 0 OR7E24 26648 broad.mit.edu 37 19 9361989 9361989 + Silent SNP T T G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr19:9361989T>G ENST00000456448.1 + 1 384 c.270T>G c.(268-270)ggT>ggG p.G90G NM_001079935.1 NP_001073404.1 Q6IFN5 O7E24_HUMAN olfactory receptor, family 7, subfamily E, member 24 90 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2) 16 CTGACATCGGTTTCACCTCCA 0.532000 23 27 0 0 0.014323 0 0 TTC40 54777 broad.mit.edu 37 10 134648830 134648830 + Missense_Mutation SNP T T C TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr10:134648830T>C ENST00000368586.5 - 47 6822 c.6722A>G c.(6721-6723)gAc>gGc p.D2241G TTC40_ENST00000263170.5_Missense_Mutation_p.D402G NM_001200049.2 NP_001186978.2 Q8IYW2 CJ092_HUMAN tetratricopeptide repeat domain 40 402 breast(1)|endometrium(5)|lung(19)|urinary_tract(3) 28 CAGGGCCATGTCCTCACTGTA 0.657000 9 39 0 0 0.006214 0 0 KIAA0196 9897 broad.mit.edu 37 8 126061386 126061386 + Silent SNP G G A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr8:126061386G>A ENST00000318410.7 - 19 2590 c.2241C>T c.(2239-2241)acC>acT p.T747T KIAA0196_ENST00000517845.1_Silent_p.T599T NM_014846.3 NP_055661.3 Q12768 STRUM_HUMAN KIAA0196 747 cell death WASH complex NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 42 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) ATCCATCCATGGTCGCTCCCA 0.403000 16 39 0 0 0.024245 0 0 CIT 11113 broad.mit.edu 37 12 120128169 120128169 + Missense_Mutation SNP G G T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr12:120128169G>T ENST00000392521.2 - 47 6028 c.5973C>A c.(5971-5973)caC>caA p.H1991Q CIT_ENST00000261833.7_Missense_Mutation_p.H1949Q|CIT_ENST00000537607.1_5'UTR NM_001206999.1 NP_001193928.1 O14578 CTRO_HUMAN citron (rho-interacting, serine/threonine kinase 21) 1949 intracellular signal transduction ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 86 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) GCTCTCGCGGGTGGCTGGGGC 0.716000 6 15 0.0215528 0.0222512 0.021553 1 0 CACNB1 782 broad.mit.edu 37 17 37347836 37347836 + Missense_Mutation SNP T T C TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr17:37347836T>C ENST00000394303.3 - 3 389 c.182A>G c.(181-183)gAg>gGg p.E61G CACNB1_ENST00000344140.5_Missense_Mutation_p.E61G|CACNB1_ENST00000582877.1_5'UTR|CACNB1_ENST00000394310.3_Missense_Mutation_p.E61G NM_000723.4 NP_000714.3 Q02641 CACB1_HUMAN calcium channel, voltage-dependent, beta 1 subunit 61 axon guidance voltage-gated calcium channel complex breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1) 16 Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661) GGTGTAGGACTCCGCTGAGCC 0.597000 11 23 0 0 0.010729 0 0 DST 667 broad.mit.edu 37 6 56716396 56716396 + Missense_Mutation SNP C C A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr6:56716396C>A ENST00000370754.5 - 4 423 c.424G>T c.(424-426)Ggg>Tgg p.G142W RP11-472M19.2_ENST00000426453.1_RNA Q03001 DYST_HUMAN dystonin 0 Actin-binding. 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) GACGCGTTCCCGGAACTCTAC 0.502000 OREG0017515 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 14 3.86212e-05 4.20123e-05 0.008291 1 0 ZNF737 100129842 broad.mit.edu 37 19 20728176 20728176 + Missense_Mutation SNP A A T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr19:20728176A>T ENST00000427401.4 - 4 927 c.833T>A c.(832-834)aTt>aAt p.I278N NM_001159293.1 NP_001152765.1 C9JHM3 C9JHM3_HUMAN zinc finger protein 737 278 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 TCCAGTATGAATTATCTTATG 0.408000 14 18 0 0 0.028581 0 0 SLC33A1 9197 broad.mit.edu 37 3 155551699 155551699 + Silent SNP T T C TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr3:155551699T>C ENST00000392845.2 - 3 1475 c.1095A>G c.(1093-1095)aaA>aaG p.K365K SLC33A1_ENST00000359479.3_Silent_p.K365K NM_004733.3 NP_004724.1 O00400 ACATN_HUMAN solute carrier family 33 (acetyl-CoA transporter), member 1 365 cell death|transmembrane transport endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction acetyl-CoA transporter activity endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1) 22 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) CTGCAGTGTATTTGCTGATAA 0.388000 16 38 0 0 0.043863 0 0 UNC45A 55898 broad.mit.edu 37 15 91479661 91479661 + Missense_Mutation SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr15:91479661C>T ENST00000394275.2 + 7 1187 c.352C>T c.(352-354)Cgg>Tgg p.R118W UNC45A_ENST00000553671.2_3'UTR|UNC45A_ENST00000418476.2_Missense_Mutation_p.R133W NM_001039675.1 NP_001034764.1 Q9H3U1 UN45A_HUMAN unc-45 homolog A (C. elegans) 133 cell differentiation|muscle organ development nucleus|perinuclear region of cytoplasm protein binding p.R133W(1) 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) GGAGGCCTTGCGGAACATCGG 0.582000 31 36 0 0 0.041601 0 0 CD248 57124 broad.mit.edu 37 11 66083463 66083463 + Missense_Mutation SNP C C G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr11:66083463C>G ENST00000311330.3 - 1 1052 c.1036G>C c.(1036-1038)Gat>Cat p.D346H RP11-867G23.13_ENST00000534065.1_RNA NM_020404.2 NP_065137.1 Q9HCU0 CD248_HUMAN CD248 molecule, endosialin 346 EGF-like; calcium-binding (Potential). integral to membrane|proteinaceous extracellular matrix calcium ion binding|sugar binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2) 26 Cefalotin(DB00456) CTGATGCCATCAGCCTCCAGC 0.577000 29 33 0 0 0.041601 0 0 HSPA8 3312 broad.mit.edu 37 11 122930647 122930647 + Silent SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr11:122930647C>T ENST00000534624.1 - 5 930 c.654G>A c.(652-654)gaG>gaA p.E218E HSPA8_ENST00000532636.1_Silent_p.E218E|HSPA8_ENST00000453788.2_Silent_p.E218E|HSPA8_ENST00000526862.1_Intron|HSPA8_ENST00000526110.1_Silent_p.E199E|HSPA8_ENST00000534319.1_5'UTR|HSPA8_ENST00000227378.3_Silent_p.E218E|HSPA8_ENST00000533540.1_Intron NM_006597.4 NP_006588.1 P11142 HSP7C_HUMAN heat shock 70kDa protein 8 218 Interaction with BAG1. cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex ATP binding|ATPase activity, coupled|protein binding breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1) 36 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) TAGACTTGACCTCAAAGATTC 0.453000 5 32 0 0 0.014758 0 0 CEP250 11190 broad.mit.edu 37 20 34090746 34090746 + Silent SNP C C A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr20:34090746C>A ENST00000397527.1 + 30 5269 c.4549C>A c.(4549-4551)Cgg>Agg p.R1517R CEP250_ENST00000342580.4_Silent_p.R1461R NM_007186.3 NP_009117.2 Q9BV73 CP250_HUMAN centrosomal protein 250kDa 1517 Gln/Glu-rich. centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex protein C-terminus binding|protein kinase binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Lung NSC(9;0.00156)|all_lung(11;0.00243) BRCA - Breast invasive adenocarcinoma(18;0.0106) CGAGAAGGATCGGGAGACTCA 0.512000 14 16 0.000151284 0.000162194 0.016723 1 0 DNAAF2 55172 broad.mit.edu 37 14 50100985 50100985 + Missense_Mutation SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr14:50100985C>T ENST00000298292.8 - 1 963 c.883G>A c.(883-885)Gcc>Acc p.A295T DNAAF2_ENST00000406043.3_Missense_Mutation_p.A295T NM_018139.2 NP_060609.2 Q9NVR5 KTU_HUMAN dynein, axonemal, assembly factor 2 295 axonemal dynein complex assembly|ciliary cell motility|flagellar cell motility cytoplasm kidney(1)|lung(4) 5 GCCTGCTCGGCCGAGCGCAAC 0.657000 11 25 0 0 0.013537 0 0 HAPLN4 404037 broad.mit.edu 37 19 19369367 19369367 + Missense_Mutation SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr19:19369367C>T ENST00000291481.7 - 4 845 c.782G>A c.(781-783)cGc>cAc p.R261H AC138430.4_ENST00000586064.2_RNA NM_023002.2 NP_075378.1 Q86UW8 HPLN4_HUMAN hyaluronan and proteoglycan link protein 4 261 Link 1. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1) 16 Epithelial(12;0.00575) GGCGTCGTAGCGTTCCTCGGC 0.687000 20 24 0 0 0.008871 0 0 FBXO21 23014 broad.mit.edu 37 12 117615346 117615346 + Missense_Mutation SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr12:117615346C>T ENST00000427718.2 - 4 645 c.571G>A c.(571-573)Gac>Aac p.D191N FBXO21_ENST00000549689.1_5'UTR|FBXO21_ENST00000330622.5_Missense_Mutation_p.D191N NM_015002.2|NM_033624.2 NP_055817.1|NP_296373.1 O94952 FBX21_HUMAN F-box protein 21 191 ubiquitin-dependent protein catabolic process ubiquitin ligase complex ubiquitin-protein ligase activity breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 29 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0291) GACTCATAGTCATCTGGCTGC 0.378000 47 50 0 0 0.014410 0 0 ADCY1 107 broad.mit.edu 37 7 45697403 45697403 + Missense_Mutation SNP T T A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr7:45697403T>A ENST00000297323.7 + 6 1248 c.1226T>A c.(1225-1227)cTg>cAg p.L409Q ADCY1_ENST00000432715.1_Missense_Mutation_p.L184Q NM_021116.2 NP_066939.1 Q08828 ADCY1_HUMAN adenylate cyclase 1 (brain) 409 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) TGTGGTGTCCTGGGCTTGCGC 0.602000 10 18 0 0 0.008291 0 0 DPYS 1807 broad.mit.edu 37 8 105459661 105459661 + Missense_Mutation SNP T T C TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr8:105459661T>C ENST00000351513.2 - 3 626 c.494A>G c.(493-495)aAa>aGa p.K165R NM_001385.2 NP_001376.1 Q14117 DPYS_HUMAN dihydropyrimidinase 165 protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process cytosol dihydropyrimidinase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) GTACAGATCTTTATAGGCCAT 0.413000 22 70 0 0 0.018920 0 0 LHX5 64211 broad.mit.edu 37 12 113906037 113906037 + Silent SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr12:113906037C>T ENST00000261731.3 - 3 1143 c.570G>A c.(568-570)aaG>aaA p.K190K NM_022363.2 NP_071758.1 Q9H2C1 LHX5_HUMAN LIM homeobox 5 190 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1) 10 TCTCCAGCTGCTTGGCCTTGA 0.672000 15 24 0 0 0.038395 0 0 OTOP2 92736 broad.mit.edu 37 17 72929559 72929559 + Silent SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr17:72929559C>T ENST00000331427.4 + 7 1700 c.1608C>T c.(1606-1608)atC>atT p.I536I OTOP2_ENST00000580223.1_Silent_p.I536I NM_178160.2 NP_835454.1 Q7RTS6 OTOP2_HUMAN otopetrin 2 536 integral to membrane breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2) 39 all_lung(278;0.172)|Lung NSC(278;0.207) GGGCGGTCATCGTCAACATCT 0.592000 15 77 0 0 0.028581 0 0 CYP8B1 1582 broad.mit.edu 37 3 42917176 42917176 + Missense_Mutation SNP G G T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr3:42917176G>T ENST00000316161.4 - 1 457 c.133C>A c.(133-135)Cat>Aat p.H45N KRBOX1_ENST00000426937.1_Intron|ACKR2_ENST00000471537.1_Intron|CYP8B1_ENST00000437102.1_Missense_Mutation_p.H45N NM_004391.2 NP_004382.2 Q9UNU6 CP8B1_HUMAN cytochrome P450, family 8, subfamily B, polypeptide 1 45 bile acid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome 7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5) 23 KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249) GCCATGGCATGGCCAAGCCAG 0.577000 28 25 7.26314e-15 8.70796e-15 0.034045 1 0 ADAM32 203102 broad.mit.edu 37 8 39022614 39022614 + Missense_Mutation SNP G G T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr8:39022614G>T ENST00000379907.4 + 9 859 c.732G>T c.(730-732)aaG>aaT p.K244N ADAM32_ENST00000519315.1_Missense_Mutation_p.K244N|ADAM32_ENST00000437682.2_Missense_Mutation_p.K251N NM_145004.5 NP_659441.3 Q8TC27 ADA32_HUMAN ADAM metallopeptidase domain 32 244 Peptidase M12B. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2) 31 all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503) LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146) ATGAAAATAAGATTTCTACAG 0.303000 22 32 7.87624e-14 9.39253e-14 0.016522 1 0 ZNF804A 91752 broad.mit.edu 37 2 185731223 185731223 + Missense_Mutation SNP A A G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr2:185731223A>G ENST00000302277.6 + 2 833 c.239A>G c.(238-240)gAc>gGc p.D80G NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 80 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 AATTCATATGACCATGCTCAC 0.358000 15 74 0 0 0.033300 0 0 DNAAF2 55172 broad.mit.edu 37 14 50100984 50100984 + Missense_Mutation SNP G G T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr14:50100984G>T ENST00000298292.8 - 1 964 c.884C>A c.(883-885)gCc>gAc p.A295D DNAAF2_ENST00000406043.3_Missense_Mutation_p.A295D NM_018139.2 NP_060609.2 Q9NVR5 KTU_HUMAN dynein, axonemal, assembly factor 2 295 axonemal dynein complex assembly|ciliary cell motility|flagellar cell motility cytoplasm kidney(1)|lung(4) 5 CGCCTGCTCGGCCGAGCGCAA 0.652000 10 26 3.07112e-06 3.40726e-06 0.010729 1 0 ADPGK 83440 broad.mit.edu 37 15 73044806 73044806 + Missense_Mutation SNP C C G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr15:73044806C>G ENST00000311669.8 - 7 1460 c.1367G>C c.(1366-1368)aGa>aCa p.R456T ADPGK_ENST00000456471.2_Missense_Mutation_p.R182T NM_031284.4 NP_112574.3 Q9BRR6 ADPGK_HUMAN ADP-dependent glucokinase 457 ADPK. glycolysis extracellular region ADP-specific glucokinase activity|metal ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1) 7 TATTCCCTCTCTGTGCCATTC 0.493000 41 116 0 0 0.014410 0 0 OR2M3 127062 broad.mit.edu 37 1 248367254 248367254 + Silent SNP G G A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr1:248367254G>A ENST00000456743.1 + 1 923 c.885G>A c.(883-885)aaG>aaA p.K295K NM_001004689.1 NP_001004689.1 Q8NG83 OR2M3_HUMAN olfactory receptor, family 2, subfamily M, member 3 295 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) TCCGCAACAAGGAGGTGACCA 0.458000 30 83 0 0 0.012213 0 0 PDCD11 22984 broad.mit.edu 37 10 105174033 105174033 + Silent SNP T T C TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr10:105174033T>C ENST00000369797.3 + 11 1411 c.1317T>C c.(1315-1317)atT>atC p.I439I NM_014976.1 NP_055791.1 Q14690 RRP5_HUMAN programmed cell death 11 439 mRNA processing|rRNA processing nucleolus RNA binding|transcription factor binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208) CTAGGTCTATTATTGAAGCTC 0.438000 7 19 0 0 0.004482 0 0 NID1 4811 broad.mit.edu 37 1 236205526 236205526 + Silent SNP G G A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr1:236205526G>A ENST00000264187.6 - 4 901 c.819C>T c.(817-819)ggC>ggT p.G273G NID1_ENST00000366595.3_Silent_p.G273G NM_002508.2 NP_002499.2 P14543 NID1_HUMAN nidogen 1 273 cell-matrix adhesion basement membrane calcium ion binding breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1) 66 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Becaplermin(DB00102)|Urokinase(DB00013) CAGGCACCACGCCATTGGTGG 0.557000 59 152 0 0 0.014410 0 0 SLC40A1 30061 broad.mit.edu 37 2 190428622 190428622 + Missense_Mutation SNP G G A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr2:190428622G>A ENST00000261024.2 - 7 1516 c.1090C>T c.(1090-1092)Cgt>Tgt p.R364C NM_014585.5 NP_055400.1 Q9NP59 S40A1_HUMAN solute carrier family 40 (iron-regulated transporter), member 1 364 anatomical structure morphogenesis|cellular iron ion homeostasis cytoplasm|integral to plasma membrane iron ion transmembrane transporter activity|protein binding endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491) CATTTTCGACGTAGCCAAGTA 0.468000 18 111 0 0 0.033300 0 0 TMCC2 9911 broad.mit.edu 37 1 205210771 205210771 + Missense_Mutation SNP G G T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr1:205210771G>T ENST00000358024.3 + 2 735 c.346G>T c.(346-348)Gac>Tac p.D116Y TMCC2_ENST00000545499.1_Missense_Mutation_p.D38Y|TMCC2_ENST00000495538.1_3'UTR NM_014858.3 NP_055673.2 O75069 TMCC2_HUMAN transmembrane and coiled-coil domain family 2 116 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) GGGTATGTCCGACCATGACTC 0.637000 6 38 0.00116845 0.0012233 0.021553 1 0 CHAF1A 10036 broad.mit.edu 37 19 4432045 4432045 + Nonsense_Mutation SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr19:4432045C>T ENST00000301280.5 + 12 2145 c.2044C>T c.(2044-2046)Caa>Taa p.Q682* CHAF1A_ENST00000587368.1_3'UTR NM_005483.2 NP_005474.2 Q13111 CAF1A_HUMAN chromatin assembly factor 1, subunit A (p150) 682 Binds to p60. 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|WINAC complex chromatin binding|chromo shadow domain binding|unfolded protein binding breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 27 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18) TCGCGTCCTGCAACCTGTGAA 0.602000 Chromatin Structure 25 56 0 0 0.030593 0 0 CSMD3 114788 broad.mit.edu 37 8 113585824 113585824 + Silent SNP G G A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr8:113585824G>A ENST00000297405.5 - 24 4192 c.3948C>T c.(3946-3948)cgC>cgT p.R1316R CSMD3_ENST00000455883.2_Silent_p.R1212R|CSMD3_ENST00000352409.3_Silent_p.R1316R|CSMD3_ENST00000343508.3_Silent_p.R1276R NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 1316 CUB 7. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 GTGTCAGTCCGCGCATAGATG 0.353000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 27 88 0 0 0.013726 0 0 C10orf12 26148 broad.mit.edu 37 10 98744407 98744407 + Missense_Mutation SNP G G A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr10:98744407G>A ENST00000286067.2 + 1 3367 c.3260G>A c.(3259-3261)aGt>aAt p.S1087N NM_015652.2 NP_056467.2 Q8N655 CJ012_HUMAN chromosome 10 open reading frame 12 1087 NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4) 45 Colorectal(252;0.172) Epithelial(162;6.35e-09)|all cancers(201;3.21e-07) GAAGTTCAGAGTAAACGCAAG 0.488000 20 24 0 0 0.043863 0 0 FAM214B 80256 broad.mit.edu 37 9 35107864 35107864 + Nonsense_Mutation SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr9:35107864C>T ENST00000378561.1 - 2 3463 c.408G>A c.(406-408)tgG>tgA p.W136* FAM214B_ENST00000322813.5_Nonsense_Mutation_p.W136*|FAM214B_ENST00000378557.1_Nonsense_Mutation_p.W136*|FAM214B_ENST00000605244.1_Nonsense_Mutation_p.W136*|FAM214B_ENST00000378554.2_Nonsense_Mutation_p.W136*|FAM214B_ENST00000603301.1_Nonsense_Mutation_p.W136*|FAM214B_ENST00000488109.2_Nonsense_Mutation_p.W136*|FAM214B_ENST00000378566.1_Intron Q7L5A3 K1539_HUMAN family with sequence similarity 214, member B 136 nucleus CCCCCGAAGTCCAAGATGAGG 0.617000 16 41 0 0 0.028581 0 0 CD248 57124 broad.mit.edu 37 11 66083246 66083246 + Missense_Mutation SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr11:66083246C>T ENST00000311330.3 - 1 1269 c.1253G>A c.(1252-1254)aGa>aAa p.R418K RP11-867G23.13_ENST00000534065.1_RNA NM_020404.2 NP_065137.1 Q9HCU0 CD248_HUMAN CD248 molecule, endosialin 418 Pro-rich. integral to membrane|proteinaceous extracellular matrix calcium ion binding|sugar binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2) 26 Cefalotin(DB00456) CTGTGGCTCTCTGTCCTCTGG 0.652000 28 107 0 0 0.014410 0 0 PRSS48 345062 broad.mit.edu 37 4 152201007 152201007 + Missense_Mutation SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr4:152201007C>T ENST00000455694.2 + 2 114 c.112C>T c.(112-114)Cgc>Tgc p.R38C PRSS48_ENST00000441586.2_Intron|SH3D19_ENST00000604030.1_Intron NM_183375.2 NP_899231.2 Q7RTY5 PRS48_HUMAN protease, serine, 48 38 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1) 8 TGCTGCAGGGCGCTGGCCTTG 0.527000 28 30 0 0 0.027356 0 0 CD248 57124 broad.mit.edu 37 11 66083379 66083379 + Missense_Mutation SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr11:66083379C>T ENST00000311330.3 - 1 1136 c.1120G>A c.(1120-1122)Gat>Aat p.D374N RP11-867G23.13_ENST00000534065.1_RNA NM_020404.2 NP_065137.1 Q9HCU0 CD248_HUMAN CD248 molecule, endosialin 374 integral to membrane|proteinaceous extracellular matrix calcium ion binding|sugar binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2) 26 Cefalotin(DB00456) TCTTCCTCATCCTCCCCGTCA 0.622000 41 55 0 0 0.036044 0 0 LOC101927209 101927209 broad.mit.edu 37 1 142713447 142713447 + RNA SNP T T C TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr1:142713447T>C ENST00000369381.2 - 0 1158 AGAACTCATTTTTACTTGTAC 0.323000 7 45 0 0 0.004482 0 0 CYC1 1537 broad.mit.edu 37 8 145151332 145151332 + Silent SNP T T C TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr8:145151332T>C ENST00000318911.4 + 4 619 c.546T>C c.(544-546)agT>agC p.S182S NM_001916.3 NP_001907.2 P08574 CY1_HUMAN cytochrome c-1 182 Cytochrome c. respiratory electron transport chain|transport cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2) 15 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;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) ACCCCAACAGTGAGGCTGCTC 0.587000 OREG0019052 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 27 56 0 0 0.021523 0 0 FGA 2243 broad.mit.edu 37 4 155510666 155510666 + Missense_Mutation SNP G G A rs121909606 TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr4:155510666G>A ENST00000302053.3 - 2 181 c.103C>T c.(103-105)Cgt>Tgt p.R35C FGA_ENST00000403106.3_Missense_Mutation_p.R35C NM_000508.3 NP_000499.1 P02671 FIBA_HUMAN fibrinogen alpha chain 35 Cleavage; by thrombin; to release fibrinopeptide A. R -> C.|R -> H. platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding p.R35C(1) NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 73 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) CTTGGGCCACGCACGCCTCCT 0.493000 42 19 0 0 0.045515 0 0 PCDHA3 56145 broad.mit.edu 37 5 140182672 140182672 + Missense_Mutation SNP G G T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr5:140182672G>T ENST00000522353.2 + 1 1890 c.1890G>T c.(1888-1890)gaG>gaT p.E630D PCDHA3_ENST00000532566.2_Missense_Mutation_p.E630D|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron NM_018906.2 NP_061729.1 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) ACACGGGAGAGATCAGCACGA 0.657000 22 56 2.89027e-11 3.39226e-11 0.014323 1 0 OTOGL 283310 broad.mit.edu 37 12 80752051 80752051 + Missense_Mutation SNP G G T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr12:80752051G>T ENST00000458043.2 + 49 6022 c.6016G>T c.(6016-6018)Gtt>Ttt p.V2006F OTOGL_ENST00000546620.1_Missense_Mutation_p.V25F|OTOGL_ENST00000547103.1_Missense_Mutation_p.V1994F NM_173591.3 NP_775862.3 otogelin-like breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 CACCAAACCTGTTCCACTATG 0.343000 6 15 0.00116845 0.0012233 0.021553 1 0 ANKFY1 51479 broad.mit.edu 37 17 4098291 4098291 + Missense_Mutation SNP C C T rs147745463 by1000genomes TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr17:4098291C>T ENST00000341657.4 - 10 1389 c.1354G>A c.(1354-1356)Gca>Aca p.A452T ANKFY1_ENST00000570535.1_Missense_Mutation_p.A494T|ANKFY1_ENST00000574367.1_Missense_Mutation_p.A452T|ANKFY1_ENST00000433651.1_Missense_Mutation_p.A452T NM_016376.3 NP_057460.3 Q9P2R3 ANFY1_HUMAN ankyrin repeat and FYVE domain containing 1 452 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 GTGTCAGGTGCGTCTGTGTGG 0.572000 14 31 0 0 0.038395 0 0 KLHL10 317719 broad.mit.edu 37 17 39994252 39994252 + Missense_Mutation SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr17:39994252C>T ENST00000293303.4 + 1 221 c.68C>T c.(67-69)gCg>gTg p.A23V KLHL10_ENST00000485613.1_3'UTR NM_152467.3 NP_689680.2 Q6JEL2 KLH10_HUMAN kelch-like family member 10 23 cytoplasm p.A23V(1) 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) AAGATGAGTGCGATGGCCTGT 0.562000 38 73 0 0 0.023175 0 0 ICAM3 3385 broad.mit.edu 37 19 10446518 10446518 + Missense_Mutation SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr19:10446518C>T ENST00000589261.1 - 3 779 c.247G>A c.(247-249)Gag>Aag p.E83K ICAM3_ENST00000160262.5_Missense_Mutation_p.E160K P32942 ICAM3_HUMAN intercellular adhesion molecule 3 160 Ig-like C2-type 1. cell-cell adhesion|regulation of immune response integral to plasma membrane integrin binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2) 13 OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05) CGGCTCAGCTCCTCCTCCCAG 0.677000 3 10 0 0 0.014758 0 0 SLC30A4 7782 broad.mit.edu 37 15 45814465 45814465 + Missense_Mutation SNP C C G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr15:45814465C>G ENST00000261867.4 - 2 402 c.88G>C c.(88-90)Gac>Cac p.D30H HMGN2P46_ENST00000409454.1_RNA NM_013309.4 NP_037441.2 O14863 ZNT4_HUMAN solute carrier family 30 (zinc transporter), member 4 30 Asp-rich (acidic). D -> E (in Ref. 1; AAB82561). regulation of sequestering of zinc ion|response to toxin endosome membrane|integral to membrane|late endosome zinc ion transmembrane transporter activity endometrium(3)|large_intestine(2)|lung(8)|prostate(1)|stomach(1) 15 Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06) TCCGAGAAGTCAAAGGCGCTG 0.572000 23 33 0 0 0.021523 0 0 GPR115 221393 broad.mit.edu 37 6 47682615 47682615 + Missense_Mutation SNP G G C TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr6:47682615G>C ENST00000283303.2 + 6 1892 c.1634G>C c.(1633-1635)aGa>aCa p.R545T GPR115_ENST00000371220.1_Missense_Mutation_p.R602T|GPR115_ENST00000327753.3_Missense_Mutation_p.R545T NM_153838.3 NP_722580.3 Q8IZF3 GP115_HUMAN G protein-coupled receptor 115 545 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 52 GGCTACATGAGACCTGAGGCC 0.483000 40 166 0 0 0.023175 0 0 CDH2 1000 broad.mit.edu 37 18 25589801 25589801 + Silent SNP C C A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr18:25589801C>A ENST00000269141.3 - 5 1005 c.582G>T c.(580-582)cgG>cgT p.R194R CDH2_ENST00000399380.3_Silent_p.R163R NM_001792.3 NP_001783.2 P19022 CADH2_HUMAN cadherin 2, type 1, N-cadherin (neuronal) 194 Cadherin 1. adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation catenin complex|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 TTACACTGTACCGCAGTGAAA 0.483000 28 44 1.77063e-15 2.14593e-15 0.027356 1 0 IL20RB 53833 broad.mit.edu 37 3 136708366 136708366 + Missense_Mutation SNP G G C TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr3:136708366G>C ENST00000329582.4 + 4 739 c.490G>C c.(490-492)Gag>Cag p.E164Q IL20RB_ENST00000309741.5_Missense_Mutation_p.E117Q NM_144717.3 NP_653318.2 Q6UXL0 I20RB_HUMAN interleukin 20 receptor beta 164 Fibronectin type-III 2. integral to membrane receptor activity kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 14 GCCCCAGTTTGAGTTCCTTGT 0.567000 12 39 0 0 0.013537 0 0 MICU1 10367 broad.mit.edu 37 10 74234891 74234891 + Silent SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr10:74234891C>T ENST00000398761.4 - 10 1038 c.906G>A c.(904-906)caG>caA p.Q302Q MICU1_ENST00000418483.2_Silent_p.Q102Q|MICU1_ENST00000398763.4_Silent_p.Q102Q|MICU1_ENST00000361114.5_Silent_p.Q300Q|MICU1_ENST00000401998.3_Silent_p.Q300Q Q9BPX6 MICU1_HUMAN mitochondrial calcium uptake 1 300 calcium ion import|defense response|elevation of mitochondrial calcium ion concentration integral to membrane|mitochondrial inner membrane calcium ion binding|protein binding GCAGTTTACGCTGAAATTCGA 0.468000 4 10 0 0 0.009096 0 0 PCNT 5116 broad.mit.edu 37 21 47841931 47841931 + Missense_Mutation SNP C C G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr21:47841931C>G ENST00000359568.5 + 32 7179 c.7072C>G c.(7072-7074)Cct>Gct p.P2358A PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 2358 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) GTCAGGAGGCCCTGAGGCTCA 0.612000 22 49 0 0 0.018920 0 0 POM121L9P 29774 broad.mit.edu 37 22 24659591 24659591 + RNA SNP A A G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr22:24659591A>G ENST00000414583.2 + 0 3116 NR_003714.1 ACTCACTGACATCGAAGGCTG 0.632000 4 24 0 0 0.009096 0 0 KLHL14 57565 broad.mit.edu 37 18 30350122 30350122 + Missense_Mutation SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr18:30350122C>T ENST00000359358.4 - 2 871 c.433G>A c.(433-435)Gcc>Acc p.A145T KLHL14_ENST00000358095.4_Missense_Mutation_p.A145T|AC012123.1_ENST00000426194.1_Intron NM_020805.1 NP_065856.1 Q9P2G3 KLH14_HUMAN kelch-like family member 14 145 BTB. cytosol|endoplasmic reticulum membrane breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2) 31 GTCACGTTGGCCGTGTAGAGG 0.637000 38 130 0 0 0.025465 0 0 PARP11 57097 broad.mit.edu 37 12 3921420 3921420 + Nonsense_Mutation SNP G G A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr12:3921420G>A ENST00000228820.4 - 8 1030 c.886C>T c.(886-888)Cga>Tga p.R296* PARP11_ENST00000427057.2_Nonsense_Mutation_p.R215*|PARP11_ENST00000447133.3_Nonsense_Mutation_p.R215*|PARP11_ENST00000397096.2_Intron|PARP11_ENST00000476985.1_Intron NM_020367.4 NP_065100.2 Q9NR21 PAR11_HUMAN poly (ADP-ribose) polymerase family, member 11 289 PARP catalytic. NAD+ ADP-ribosyltransferase activity p.R289*(1) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1) 17 all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264) GAAGGAGGTCGCATGTATTTG 0.413000 39 82 0 0 0.027894 0 0 KIAA1598 57698 broad.mit.edu 37 10 118713583 118713583 + Missense_Mutation SNP C C A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr10:118713583C>A ENST00000355371.4 - 5 903 c.406G>T c.(406-408)Gtc>Ttc p.V136F KIAA1598_ENST00000260777.10_Missense_Mutation_p.V136F|KIAA1598_ENST00000497044.1_5'UTR|KIAA1598_ENST00000392901.4_Missense_Mutation_p.V76F|KIAA1598_ENST00000392903.2_Missense_Mutation_p.V136F NM_001127211.2|NM_001258298.1|NM_001258299.1 NP_001120683.1|NP_001245227.1|NP_001245228.1 A0MZ66 SHOT1_HUMAN KIAA1598 136 axon guidance axon endometrium(1)|kidney(1)|large_intestine(5)|lung(3) 10 all cancers(201;0.00494) TGTACTGAGACACAAGTCTCG 0.418000 19 26 6.44725e-10 7.52742e-10 0.014323 1 0 KIAA0947 23379 broad.mit.edu 37 5 5461761 5461761 + Missense_Mutation SNP A A G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr5:5461761A>G ENST00000296564.7 + 13 2536 c.2314A>G c.(2314-2316)Ata>Gta p.I772V NM_015325.2 NP_056140.1 Q9Y2F5 K0947_HUMAN KIAA0947 772 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1) 35 CACATCATTAATAGGTTCTCA 0.388000 9 22 0 0 0.010729 0 0 DDX49 54555 broad.mit.edu 37 19 19035702 19035702 + Missense_Mutation SNP T T A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr19:19035702T>A ENST00000438170.2 + 10 1061 c.649T>A c.(649-651)Tcc>Acc p.S217T DDX49_ENST00000599156.1_3'UTR|AC002985.3_ENST00000596918.1_Intron|DDX49_ENST00000247003.4_Missense_Mutation_p.I314N Q9Y6V7 DDX49_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 49 0 ATP binding|ATP-dependent helicase activity|RNA binding breast(1)|endometrium(6)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 18 Epithelial(12;0.0289) GGCCTGGACATCCCTACGGTA 0.637000 23 27 0 0 0.018920 0 0 KIF5C 3800 broad.mit.edu 37 2 149847689 149847689 + Missense_Mutation SNP G G T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr2:149847689G>T ENST00000435030.1 + 16 2250 c.1882G>T c.(1882-1884)Gcc>Tcc p.A628S KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000414838.2_Missense_Mutation_p.A533S|KIF5C_ENST00000397413.1_Missense_Mutation_p.A396S O60282 KIF5C_HUMAN kinesin family member 5C 628 microtubule-based movement|organelle organization cytoplasm|kinesin complex|microtubule ATP binding|microtubule motor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 BRCA - Breast invasive adenocarcinoma(221;0.108) GGAGCTGGCAGCCTGCCAGCT 0.587000 6 16 3.59834e-05 3.93348e-05 0.021553 1 0 ZFC3H1 196441 broad.mit.edu 37 12 72057278 72057278 + Missense_Mutation SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr12:72057278C>T ENST00000378743.3 - 1 471 c.113G>A c.(112-114)aGt>aAt p.S38N ZFC3H1_ENST00000552037.1_Missense_Mutation_p.S38N|THAP2_ENST00000308086.2_5'UTR|ZFC3H1_ENST00000548100.1_Missense_Mutation_p.S38N NM_144982.4 NP_659419.3 O60293 ZC3H1_HUMAN zinc finger, C3H1-type containing 38 Ser-rich. RNA processing intracellular metal ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 GCTGCTCCGACTCCGTATCTG 0.657000 OREG0021993 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 60 106 0 0 0.014410 0 0 TM9SF3 56889 broad.mit.edu 37 10 98292908 98292908 + Missense_Mutation SNP G G C TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr10:98292908G>C ENST00000371142.4 - 10 1441 c.1225C>G c.(1225-1227)Cta>Gta p.L409V NM_020123.3 NP_064508.3 Q9HD45 TM9S3_HUMAN transmembrane 9 superfamily member 3 409 integral to membrane binding breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1) 15 Colorectal(252;0.158) Epithelial(162;1.84e-09)|all cancers(201;2.84e-08) ACAAGATTTAGAGGAAGAATA 0.363000 17 31 0 0 0.033300 0 0 PDZD8 118987 broad.mit.edu 37 10 119044328 119044328 + Missense_Mutation SNP A A G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr10:119044328A>G ENST00000334464.5 - 5 2155 c.1916T>C c.(1915-1917)gTg>gCg p.V639A PDZD8_ENST00000482496.1_5'UTR NM_173791.3 NP_776152.1 Q8NEN9 PDZD8_HUMAN PDZ domain containing 8 639 intracellular signal transduction metal ion binding kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3) 38 Colorectal(252;0.19) all cancers(201;0.0121) TATGGCATCCACATTTTTTGC 0.453000 6 55 0 0 0.029380 0 0 CYP2J2 1573 broad.mit.edu 37 1 60392390 60392390 + Missense_Mutation SNP G G A rs146801076 byFrequency TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr1:60392390G>A ENST00000371204.3 - 1 72 c.29C>T c.(28-30)gCt>gTt p.A10V NM_000775.2 NP_000766.2 P51589 CP2J2_HUMAN cytochrome P450, family 2, subfamily J, polypeptide 2 10 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) CCAGAGGGCAGCCGCCAGAGA 0.657000 4 9 0 0 0.009096 0 0 SIX4 51804 broad.mit.edu 37 14 61180764 61180764 + Silent SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr14:61180764C>T ENST00000216513.4 - 3 1766 c.1707G>A c.(1705-1707)caG>caA p.Q569Q NM_017420.4 NP_059116.3 Q9UIU6 SIX4_HUMAN SIX homeobox 4 569 nucleus breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 OV - Ovarian serous cystadenocarcinoma(108;0.0275) CCAAGCCTTCCTGTTTCACAG 0.468000 13 19 0 0 0.024245 0 0 KRTAP5-8 57830 broad.mit.edu 37 11 71249400 71249400 + Missense_Mutation SNP G G T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr11:71249400G>T ENST00000398534.3 + 1 330 c.299G>T c.(298-300)tGt>tTt p.C100F NM_021046.2 NP_066384.2 O75690 KRA58_HUMAN keratin associated protein 5-8 100 9 X 4 AA repeats of C-C-X-P. extracellular region|keratin filament structural constituent of epidermis cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1) 6 TCCTCAGGCTGTGGGTCATCC 0.612000 72 504 3.79363e-24 4.72615e-24 0.014410 1 0 CD248 57124 broad.mit.edu 37 11 66083748 66083748 + Missense_Mutation SNP C C A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr11:66083748C>A ENST00000311330.3 - 1 767 c.751G>T c.(751-753)Gat>Tat p.D251Y RP11-867G23.13_ENST00000534065.1_RNA NM_020404.2 NP_065137.1 Q9HCU0 CD248_HUMAN CD248 molecule, endosialin 251 integral to membrane|proteinaceous extracellular matrix calcium ion binding|sugar binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2) 26 Cefalotin(DB00456) ACGTGACCATCCACCTCCTCC 0.687000 27 33 0.000184323 0.000195734 0.034045 1 0 THSD7B 80731 broad.mit.edu 37 2 137814502 137814502 + Missense_Mutation SNP C C A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr2:137814502C>A ENST00000409968.1 + 3 830 c.652C>A c.(652-654)Cca>Aca p.P218T THSD7B_ENST00000413152.2_Missense_Mutation_p.P187T|THSD7B_ENST00000272643.3_Missense_Mutation_p.P218T|THSD7B_ENST00000543459.1_Missense_Mutation_p.P77T thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) TTTGCAATGTCCAAATCTGAC 0.478000 58 136 1.22119e-34 1.53856e-34 0.014410 1 0 CD248 57124 broad.mit.edu 37 11 66083586 66083586 + Missense_Mutation SNP C C A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr11:66083586C>A ENST00000311330.3 - 1 929 c.913G>T c.(913-915)Gat>Tat p.D305Y RP11-867G23.13_ENST00000534065.1_RNA NM_020404.2 NP_065137.1 Q9HCU0 CD248_HUMAN CD248 molecule, endosialin 305 integral to membrane|proteinaceous extracellular matrix calcium ion binding|sugar binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2) 26 Cefalotin(DB00456) TGCGGATCATCCTCCGCTGGC 0.617000 12 25 1.05317e-09 1.22321e-09 0.020292 1 0 SULF1 23213 broad.mit.edu 37 8 70517085 70517085 + Nonsense_Mutation SNP C C G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr8:70517085C>G ENST00000260128.4 + 13 2012 c.1295C>G c.(1294-1296)tCa>tGa p.S432* SULF1_ENST00000458141.2_Nonsense_Mutation_p.S432*|SULF1_ENST00000419716.3_Nonsense_Mutation_p.S432*|SULF1_ENST00000402687.4_Nonsense_Mutation_p.S432*|SULF1_ENST00000521946.1_3'UTR NM_015170.2 NP_055985.2 Q8IWU6 SULF1_HUMAN sulfatase 1 432 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) ATCCAACAGTCAAATCACTTG 0.463000 29 49 0 0 0.030593 0 0 PCNXL4 64430 broad.mit.edu 37 14 60574583 60574583 + Missense_Mutation SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr14:60574583C>T ENST00000406854.1 + 2 781 c.227C>T c.(226-228)tCa>tTa p.S76L PCNXL4_ENST00000406949.1_Intron|PCNXL4_ENST00000404681.2_Missense_Mutation_p.S76L|PCNXL4_ENST00000391611.2_Missense_Mutation_p.S76L|PCNXL4_ENST00000317623.4_Intron pecanex-like 4 (Drosophila) GCAGCACTTTCAGGTGGATTA 0.368000 10 20 0 0 0.006214 0 0 CES2 8824 broad.mit.edu 37 16 66975087 66975087 + Missense_Mutation SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr16:66975087C>T ENST00000317091.4 + 6 2053 c.1069C>T c.(1069-1071)Cgg>Tgg p.R357W CES2_ENST00000417689.1_Missense_Mutation_p.R357W NM_003869.5 NP_003860.2 O00748 EST2_HUMAN carboxylesterase 2 293 catabolic process endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1) 12 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166) GGGCTGCCTGCGGGGCAAGAG 0.572000 3 43 0 0 0.009096 0 0 C12orf4 57102 broad.mit.edu 37 12 4627336 4627336 + Missense_Mutation SNP A A T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr12:4627336A>T ENST00000261250.3 - 8 1008 c.921T>A c.(919-921)agT>agA p.S307R C12orf4_ENST00000545746.1_Missense_Mutation_p.S307R NM_020374.2 NP_065107.1 Q9NQ89 CL004_HUMAN chromosome 12 open reading frame 4 307 NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1) 13 Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229) BRCA - Breast invasive adenocarcinoma(232;0.0281) GTTTCACACCACTTCGATGAT 0.413000 55 67 0 0 0.014410 0 0 CD248 57124 broad.mit.edu 37 11 66083845 66083845 + Silent SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr11:66083845C>T ENST00000311330.3 - 1 670 c.654G>A c.(652-654)gaG>gaA p.E218E RP11-867G23.13_ENST00000534065.1_RNA NM_020404.2 NP_065137.1 Q9HCU0 CD248_HUMAN CD248 molecule, endosialin 218 Sushi. integral to membrane|proteinaceous extracellular matrix calcium ion binding|sugar binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2) 26 Cefalotin(DB00456) CCACACCTCCCTCAGGCTGCT 0.662000 25 20 0 0 0.024334 0 0 PCDHA2 56146 broad.mit.edu 37 5 140175998 140175998 + Missense_Mutation SNP C C A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr5:140175998C>A ENST00000526136.1 + 1 1449 c.1449C>A c.(1447-1449)gaC>gaA p.D483E PCDHA2_ENST00000520672.2_Missense_Mutation_p.D483E|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.D483E|PCDHA1_ENST00000394633.3_Intron NM_018905.2 NP_061728.1 NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGGATGCGGACGCGCAGGAGA 0.657000 38 82 7.05121e-23 8.73567e-23 0.039052 1 0 ESCO2 157570 broad.mit.edu 37 8 27657230 27657230 + Missense_Mutation SNP T T G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr8:27657230T>G ENST00000305188.8 + 10 1908 c.1670T>G c.(1669-1671)cTc>cGc p.L557R ESCO2_ENST00000397418.2_Missense_Mutation_p.L205R NM_001017420.2 NP_001017420.1 Q56NI9 ESCO2_HUMAN establishment of sister chromatid cohesion N-acetyltransferase 2 557 cell cycle|post-translational protein acetylation|regulation of DNA replication chromatin|nucleus acyltransferase activity|metal ion binding autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Ovarian(32;0.000953) UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132) GTTGATACCCTCAGGTAAGAA 0.428000 SC Phocomelia syndrome 26 53 0 0 0.037714 0 0 SYNJ1 8867 broad.mit.edu 37 21 34099218 34099218 + Missense_Mutation SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr21:34099218C>T ENST00000382499.2 - 2 105 c.106G>A c.(106-108)Gaa>Aaa p.E36K SYNJ1_ENST00000357345.3_5'UTR|SYNJ1_ENST00000382491.3_5'UTR|SYNJ1_ENST00000433931.2_Missense_Mutation_p.E36K NM_203446.2 NP_982271.2 O43426 SYNJ1_HUMAN synaptojanin 1 0 inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 57 CTCCTTTCTTCGGAGGCAGCC 0.488000 24 46 0 0 0.037714 0 0 SLC25A45 283130 broad.mit.edu 37 11 65144112 65144112 + Silent SNP T T A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr11:65144112T>A ENST00000417511.2 - 10 1641 c.507A>T c.(505-507)gcA>gcT p.A169A SLC25A45_ENST00000534028.1_Silent_p.A187A|SLC25A45_ENST00000377152.2_Silent_p.A107A|SLC25A45_ENST00000398802.1_Silent_p.A211A|SLC25A45_ENST00000294187.6_Silent_p.A169A|SLC25A45_ENST00000527174.1_Silent_p.A211A|SLC25A45_ENST00000526432.1_Silent_p.A149A|SLC25A45_ENST00000360662.3_Silent_p.A187A NM_001278251.1 NP_001265180.1 Q8N413 S2545_HUMAN solute carrier family 25, member 45 211 transmembrane transport integral to membrane|mitochondrial inner membrane binding endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 14 AAGCAATGCCTGCAAAGCCCC 0.612000 30 19 0 0 0.041601 0 0 MYH9 4627 broad.mit.edu 37 22 36701124 36701124 + Silent SNP G G T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr22:36701124G>T ENST00000216181.5 - 18 2414 c.2184C>A c.(2182-2184)tcC>tcA p.S728S NM_002473.4 NP_002464.1 P35579 MYH9_HUMAN myosin, heavy chain 9, non-muscle 728 Myosin head-like. actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 CCTTGGGAATGGAGTTTGGAG 0.537000 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 20 45 2.37509e-13 2.81726e-13 0.010504 1 0 CD248 57124 broad.mit.edu 37 11 66083548 66083548 + Missense_Mutation SNP C C G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr11:66083548C>G ENST00000311330.3 - 1 967 c.951G>C c.(949-951)caG>caC p.Q317H RP11-867G23.13_ENST00000534065.1_RNA NM_020404.2 NP_065137.1 Q9HCU0 CD248_HUMAN CD248 molecule, endosialin 317 EGF-like; calcium-binding (Potential). integral to membrane|proteinaceous extracellular matrix calcium ion binding|sugar binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2) 26 Cefalotin(DB00456) CACCGGCAATCTGGCACTCAT 0.597000 13 29 0 0 0.028581 0 0 ACN9 57001 broad.mit.edu 37 7 96747113 96747113 + Silent SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr7:96747113C>T ENST00000432641.2 + 1 1212 c.78C>T c.(76-78)gaC>gaT p.D26D ACN9_ENST00000360382.4_Silent_p.D26D NM_020186.2 NP_064571.1 Q9NRP4 ACN9_HUMAN ACN9 homolog (S. cerevisiae) 26 regulation of gluconeogenesis mitochondrial intermembrane space large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(3) 10 all_cancers(62;2.54e-08)|all_epithelial(64;2.24e-08)|Esophageal squamous(72;0.00507)|all_lung(186;0.154)|Lung NSC(181;0.159) TGCCCCCGGACCTCAAATCCC 0.597000 16 58 0 0 0.028581 0 0 GRB7 2886 broad.mit.edu 37 17 37899470 37899470 + Silent SNP G G T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr17:37899470G>T ENST00000309156.4 + 5 758 c.501G>T c.(499-501)gtG>gtT p.V167V GRB7_ENST00000394204.1_Silent_p.V167V|GRB7_ENST00000394209.2_Silent_p.V167V|GRB7_ENST00000309185.3_Silent_p.V167V|GRB7_ENST00000445327.2_Silent_p.V190V|GRB7_ENST00000578702.1_3'UTR|GRB7_ENST00000394211.3_Silent_p.V167V NM_005310.3 NP_005301.2 Q14451 GRB7_HUMAN growth factor receptor-bound protein 7 167 Ras-associating. blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly cytosol|focal adhesion|stress granule phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) TGGTGGAAGTGCAGGCTGCCT 0.582000 8 82 2.17888e-05 2.39354e-05 0.006214 1 0 OR2T1 26696 broad.mit.edu 37 1 248569576 248569576 + Missense_Mutation SNP T T A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr1:248569576T>A ENST00000366474.1 + 1 281 c.281T>A c.(280-282)gTt>gAt p.V94D NM_030904.1 NP_112166.1 O43869 OR2T1_HUMAN olfactory receptor, family 2, subfamily T, member 1 94 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 39 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) GCCAATGGGGTTATGATCTTC 0.428000 20 136 0 0 0.010504 0 0 POM121L9P 29774 broad.mit.edu 37 22 24659593 24659593 + RNA SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr22:24659593C>T ENST00000414583.2 + 0 3118 NR_003714.1 TCACTGACATCGAAGGCTGCC 0.632000 4 27 0 0 0.009096 0 0 CDH18 1016 broad.mit.edu 37 5 19571938 19571938 + Missense_Mutation SNP G G T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr5:19571938G>T ENST00000507958.1 - 10 1993 c.1003C>A c.(1003-1005)Ctg>Atg p.L335M CDH18_ENST00000382275.1_Missense_Mutation_p.L335M|CDH18_ENST00000502796.1_Missense_Mutation_p.L335M|CDH18_ENST00000511273.1_Missense_Mutation_p.L335M|CDH18_ENST00000506372.1_Missense_Mutation_p.L335M|CDH18_ENST00000274170.4_Missense_Mutation_p.L335M Q13634 CAD18_HUMAN cadherin 18, type 2 335 Cadherin 3. 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) TCATAGTTCAGTGGCTGTGGG 0.299000 14 20 1.49906e-05 1.6549e-05 0.020292 1 0 HECTD1 25831 broad.mit.edu 37 14 31626071 31626071 + Missense_Mutation SNP T T G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr14:31626071T>G ENST00000399332.1 - 12 2395 c.1907A>C c.(1906-1908)aAt>aCt p.N636T HECTD1_ENST00000553700.1_Missense_Mutation_p.N636T NM_015382.2 NP_056197.2 Q9ULT8 HECD1_HUMAN HECT domain containing E3 ubiquitin protein ligase 1 636 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular metal ion binding|protein binding|ubiquitin-protein ligase activity breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 70 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00617) TTCCTCTTCATTCTCATCATC 0.343000 25 36 0 0 0.024334 0 0 ACOT11 26027 broad.mit.edu 37 1 55064970 55064970 + Splice_Site SNP C C T rs148238018 byFrequency TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr1:55064970C>T ENST00000371316.3 + 8 848 c.764_splice c.e8-1 p.R256_splice ACOT11_ENST00000481208.1_3'UTR|ACOT11_ENST00000343744.2_Splice_Site_p.R256_splice NM_015547.3 NP_056362.1 Q8WXI4 ACO11_HUMAN acyl-CoA thioesterase 11 256 Acyl coenzyme A hydrolase 2. fatty acid metabolic process|intracellular signal transduction|response to cold acyl-CoA thioesterase activity|carboxylesterase activity NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1) 17 CCTCCTCAGCCGGCTCTGCCG 0.522000 18 27 0 0 0.038395 0 0 COL6A6 131873 broad.mit.edu 37 3 130283910 130283910 + Missense_Mutation SNP T T C TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr3:130283910T>C ENST00000358511.6 + 3 765 c.734T>C c.(733-735)tTt>tCt p.F245S COL6A6_ENST00000453409.2_Missense_Mutation_p.F245S NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 245 Nonhelical region.|VWFA 2. 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 GAGGAGAACTTTGACTATCTT 0.418000 43 83 0 0 0.030466 0 0 KLHL24 54800 broad.mit.edu 37 3 183369021 183369021 + Missense_Mutation SNP A A G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr3:183369021A>G ENST00000454652.1 + 4 1263 c.877A>G c.(877-879)Ata>Gta p.I293V KLHL24_ENST00000476808.1_Missense_Mutation_p.I293V|KLHL24_ENST00000242810.6_Missense_Mutation_p.I293V Q6TFL4 KLH24_HUMAN kelch-like family member 24 293 axon|cytoplasm|perikaryon NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 all_cancers(143;2.88e-10)|Ovarian(172;0.0303) all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22) ACGGTACCACATACTTGGGAA 0.388000 13 48 0 0 0.020292 0 0 KSR2 283455 broad.mit.edu 37 12 117968797 117968797 + Missense_Mutation SNP G G A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr12:117968797G>A ENST00000425217.1 - 12 1718 c.1664C>T c.(1663-1665)aCg>aTg p.T555M KSR2_ENST00000302438.5_Missense_Mutation_p.T281M|KSR2_ENST00000339824.5_Missense_Mutation_p.T584M|KSR2_ENST00000545002.1_5'UTR NM_173598.4 NP_775869.3 Q6VAB6 KSR2_HUMAN kinase suppressor of ras 2 584 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) CCGGGTCGGCGTCTCCGGCAC 0.562000 51 94 0 0 0.014410 0 0 SNW1 22938 broad.mit.edu 37 14 78184661 78184661 + Missense_Mutation SNP T T G rs17825620 by1000genomes TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr14:78184661T>G ENST00000555761.1 - 13 1489 c.1461A>C c.(1459-1461)aaA>aaC p.K487N SNW1_ENST00000554775.1_Intron|SLIRP_ENST00000557431.1_Intron|SLIRP_ENST00000557623.1_Intron|SNW1_ENST00000261531.7_Intron Q13573 SNW1_HUMAN SNW domain containing 1 0 negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter catalytic step 2 spliceosome|nucleoplasm Notch binding NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0291) TATGAACTACTTTGCTTTCAC 0.438000 4 107 0 0 0.009096 0 0 NDUFA6 4700 broad.mit.edu 37 22 42482286 42482286 + Silent SNP T T C TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr22:42482286T>C ENST00000498737.2 - 3 498 c.366A>G c.(364-366)gtA>gtG p.V122V NDUFA6_ENST00000470753.1_Silent_p.V39V|NDUFA6_ENST00000602404.1_Silent_p.V96V|SMDT1_ENST00000547929.1_Intron NM_002490.3 NP_002481.2 P56556 NDUA6_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 6, 14kDa 122 mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity kidney(1)|lung(3)|upper_aerodigestive_tract(1) 5 NADH(DB00157) GCTGCTTCCATACTTTAATTG 0.453000 28 59 0 0 0.027356 0 0 COPZ1 22818 broad.mit.edu 37 12 54744278 54744278 + Missense_Mutation SNP G G A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr12:54744278G>A ENST00000262061.2 + 9 542 c.505G>A c.(505-507)Gaa>Aaa p.E169K COPZ1_ENST00000551779.1_3'UTR|COPZ1_ENST00000552218.1_Missense_Mutation_p.E190K|COPZ1_ENST00000548281.1_3'UTR|COPZ1_ENST00000549043.1_Missense_Mutation_p.E177K|COPZ1_ENST00000552362.1_Missense_Mutation_p.E152K|COPZ1_ENST00000416254.2_Missense_Mutation_p.E118K|COPZ1_ENST00000548753.1_Missense_Mutation_p.E81K|COPZ1_ENST00000455864.2_Missense_Mutation_p.E146K|COPZ1_ENST00000549116.1_Missense_Mutation_p.E111K NM_001271734.1|NM_001271736.1|NM_016057.1 NP_001258663.1|NP_001258665.1|NP_057141.1 P61923 COPZ1_HUMAN coatomer protein complex, subunit zeta 1 169 COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol kidney(1)|lung(4) 5 GTCAGCCAAAGAACAGATCAA 0.493000 10 148 0 0 0.006214 0 0 NUTM2G 441457 broad.mit.edu 37 9 99694538 99694538 + Missense_Mutation SNP G G C TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr9:99694538G>C ENST00000354649.3 + 2 1266 c.551G>C c.(550-552)gGa>gCa p.G184A HIATL2_ENST00000506067.1_Intron|NUTM2G_ENST00000372322.3_Missense_Mutation_p.G184A NM_001045477.2 NP_001038942.1 NUT family member 2G GGGGCTCATGGAGAGGGCAGC 0.647000 19 110 0 0 0.016522 0 0 GLRA1 2741 broad.mit.edu 37 5 151202317 151202317 + Missense_Mutation SNP A A C TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr5:151202317A>C ENST00000274576.4 - 9 1559 c.1267T>G c.(1267-1269)Ttc>Gtc p.F423V GLRA1_ENST00000545569.1_Missense_Mutation_p.F340V|GLRA1_ENST00000455880.2_Missense_Mutation_p.F431V NM_000171.3|NM_001146040.1 NP_000162.2|NP_001139512.1 P23415 GLRA1_HUMAN glycine receptor, alpha 1 431 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) GCCATGGGGAAGCCAATGCGG 0.507000 26 42 0 0 0.021523 0 0 PRKAR2B 5577 broad.mit.edu 37 7 106781395 106781395 + Missense_Mutation SNP A A T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr7:106781395A>T ENST00000265717.4 + 5 843 c.584A>T c.(583-585)gAt>gTt p.D195V PRKAR2B_ENST00000393613.2_3'UTR NM_002736.2 NP_002727.2 P31323 KAP3_HUMAN protein kinase, cAMP-dependent, regulatory, type II, beta 195 activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport centrosome|cytosol|plasma membrane cAMP binding|cAMP-dependent protein kinase regulator activity breast(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1) 14 TATGTAATTGATAGGTAAGTT 0.348000 15 28 0 0 0.020292 0 0 CUL3 8452 broad.mit.edu 37 2 225368470 225368470 + Missense_Mutation SNP C C G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr2:225368470C>G ENST00000264414.4 - 9 1614 c.1276G>C c.(1276-1278)Gat>Cat p.D426H CUL3_ENST00000344951.4_Missense_Mutation_p.D360H|CUL3_ENST00000409096.1_Missense_Mutation_p.D402H|CUL3_ENST00000409777.1_Missense_Mutation_p.D402H NM_003590.4 NP_003581.1 Q13618 CUL3_HUMAN cullin 3 426 cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule ubiquitin protein ligase binding endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 46 all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138) Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902) TCAAATACATCTTTTTCTTGC 0.294000 7 4 0 0 0.029380 0 0 PARP12 64761 broad.mit.edu 37 7 139727186 139727186 + Silent SNP G G T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr7:139727186G>T ENST00000263549.3 - 10 2391 c.1518C>A c.(1516-1518)tcC>tcA p.S506S NM_022750.2 NP_073587.1 Q9H0J9 PAR12_HUMAN poly (ADP-ribose) polymerase family, member 12 506 PARP catalytic. nucleus NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1) 19 Melanoma(164;0.0142) ACTCTTCCGAGGAAGAACTAA 0.448000 19 55 2.94398e-08 3.34953e-08 0.043863 1 0 AJUBA 84962 broad.mit.edu 37 14 23450641 23450641 + Nonsense_Mutation SNP C C A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr14:23450641C>A ENST00000262713.2 - 1 1210 c.835G>T c.(835-837)Gag>Tag p.E279* RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000361265.4_Nonsense_Mutation_p.E279* NM_032876.4 NP_116265.1 Q96IF1 JUB_HUMAN ajuba LIM protein 279 PreLIM. cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center alpha-catenin binding|zinc ion binding GCTGTTAGCTCGTCCTGGTAC 0.711000 7 15 8.12818e-05 8.75645e-05 0.029380 1 0 CSMD3 114788 broad.mit.edu 37 8 113988125 113988125 + Missense_Mutation SNP C C G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr8:113988125C>G ENST00000297405.5 - 7 1527 c.1283G>C c.(1282-1284)aGa>aCa p.R428T CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000352409.3_Missense_Mutation_p.R428T|CSMD3_ENST00000343508.3_Missense_Mutation_p.R388T NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 428 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 ATGTCTTGGTCTTCTCCTGGT 0.453000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 36 92 0 0 0.015359 0 0 TPCN2 219931 broad.mit.edu 37 11 68835058 68835058 + Missense_Mutation SNP G G A rs142288453 byFrequency TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr11:68835058G>A ENST00000294309.3 + 8 915 c.814G>A c.(814-816)Gcc>Acc p.A272T TPCN2_ENST00000542467.1_Missense_Mutation_p.A272T|TPCN2_ENST00000442692.2_3'UTR NM_139075.3 NP_620714.2 Q8NHX9 TPC2_HUMAN two pore segment channel 2 272 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) GCTGACCACGGCCAACAACCC 0.637000 12 366 0 0 0.020292 0 0 ELMO3 79767 broad.mit.edu 37 16 67234109 67234109 + Silent SNP G G A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr16:67234109G>A ENST00000393997.2 + 5 474 c.417G>A c.(415-417)gaG>gaA p.E139E ELMO3_ENST00000477898.1_5'UTR|ELMO3_ENST00000360833.1_Silent_p.E122E|ELMO3_ENST00000571638.1_3'UTR NM_024712.3 NP_078988.2 Q96BJ8 ELMO3_HUMAN engulfment and cell motility 3 86 apoptosis|phagocytosis cytoplasm|cytoskeleton SH3 domain binding cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3) 18 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417) TTGAGGCTGAGCAGCTCTTGG 0.642000 7 7 0 0 0.029380 0 0 SLC27A6 28965 broad.mit.edu 37 5 128324299 128324299 + Missense_Mutation SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr5:128324299C>T ENST00000262462.4 + 3 1702 c.692C>T c.(691-693)cCa>cTa p.P231L SLC27A6_ENST00000395266.1_Missense_Mutation_p.P231L|SLC27A6_ENST00000506176.1_Missense_Mutation_p.P231L Q9Y2P4 S27A6_HUMAN solute carrier family 27 (fatty acid transporter), member 6 231 P -> S (in Ref. 3; CAG33410). long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process integral to membrane|sarcolemma fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1) 44 all_cancers(142;0.0483)|Prostate(80;0.055) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186) CCAGGTCTACCAAAAGCAGCT 0.368000 30 32 0 0 0.041601 0 0 CD248 57124 broad.mit.edu 37 11 66084045 66084045 + Missense_Mutation SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr11:66084045C>T ENST00000311330.3 - 1 470 c.454G>A c.(454-456)Gac>Aac p.D152N RP11-867G23.13_ENST00000534065.1_RNA NM_020404.2 NP_065137.1 Q9HCU0 CD248_HUMAN CD248 molecule, endosialin 152 C-type lectin. integral to membrane|proteinaceous extracellular matrix calcium ion binding|sugar binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2) 26 Cefalotin(DB00456) AGGTAGCCGTCGACAGCCAGC 0.716000 17 15 0 0 0.038395 0 0 ZNF573 126231 broad.mit.edu 37 19 38262306 38262306 + Missense_Mutation SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr19:38262306C>T ENST00000590414.2 - 2 121 c.100G>A c.(100-102)Gcc>Acc p.A34T ZNF573_ENST00000536220.1_5'UTR|ZNF573_ENST00000392138.1_5'UTR|ZNF573_ENST00000585724.1_Intron|ZNF573_ENST00000357309.3_Intron|ZNF573_ENST00000339503.4_5'UTR Q86YE8 ZN573_HUMAN zinc finger protein 573 14 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146) AAGTCTATGGCCACATCCCTG 0.408000 6 22 0 0 0.038147 0 0 HELZ 9931 broad.mit.edu 37 17 65186378 65186378 + Silent SNP T T G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr17:65186378T>G ENST00000358691.5 - 10 817 c.651A>C c.(649-651)tcA>tcC p.S217S HELZ_ENST00000580168.1_Silent_p.S217S|HELZ_ENST00000580662.1_5'UTR 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) TTATCAGCCGTGAAGCATATC 0.393000 12 50 0 0 0.016723 0 0 LAMA4 3910 broad.mit.edu 37 6 112493962 112493962 + Missense_Mutation SNP G G C TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr6:112493962G>C ENST00000230538.7 - 12 1799 c.1402C>G c.(1402-1404)Cgc>Ggc p.R468G LAMA4_ENST00000389463.4_Missense_Mutation_p.R461G|LAMA4_ENST00000522006.1_Missense_Mutation_p.R461G|LAMA4_ENST00000424408.2_Missense_Mutation_p.R461G NM_001105206.2 NP_001098676.2 Q16363 LAMA4_HUMAN laminin, alpha 4 468 Domain II and I. 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) AACAGAGTGCGGGTCTCATTG 0.527000 4 29 0 0 0.014758 0 0 PIP5K1B 8395 broad.mit.edu 37 9 71532554 71532554 + Missense_Mutation SNP C C T rs146846422 TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr9:71532554C>T ENST00000265382.3 + 9 1167 c.862C>T c.(862-864)Cca>Tca p.P288S PIP5K1B_ENST00000541509.1_Missense_Mutation_p.P288S NM_003558.2 NP_003549.1 O14986 PI51B_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type I, beta 288 PIPK. endomembrane system|membrane|uropod 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding breast(1)|large_intestine(2)|stomach(1) 4 Lung(182;0.133) GGAGGAGACCCCACAAAATGT 0.473000 163 56 0 0 0.014410 0 0 TP53 7157 broad.mit.edu 37 17 7577534 7577534 + Missense_Mutation SNP C C A rs28934571 TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr17:7577534C>A ENST00000420246.2 - 7 879 c.747G>T c.(745-747)agG>agT p.R249S TP53_ENST00000455263.2_Missense_Mutation_p.R249S|TP53_ENST00000413465.2_Missense_Mutation_p.R249S|TP53_ENST00000359597.4_Missense_Mutation_p.R249S|TP53_ENST00000445888.2_Missense_Mutation_p.R249S|TP53_ENST00000269305.4_Missense_Mutation_p.R249S NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 249 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity). R -> G (in sporadic cancers; somatic mutation).|R -> I (in a sporadic cancer; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).|R -> M (in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in sporadic cancers; somatic mutation; dbSNP:rs28934571).|R -> T (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (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.R249S(348)|p.0?(8)|p.R249R(5)|p.?(5)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.R249_P250delRP(1)|p.R249_P250insR(1)|p.R249_P250>SS(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*14(1)|p.R249_T256delRPILTIIT(1)|p.P250fs*14(1)|p.R249_I251delRPI(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) TGAGGATGGGCCTCCGGTTCA 0.572000 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) 38 19 7.63091e-17 9.25451e-17 0.030466 1 0 HERC2 8924 broad.mit.edu 37 15 28389228 28389228 + Missense_Mutation SNP G G A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr15:28389228G>A ENST00000261609.7 - 73 11402 c.11294C>T c.(11293-11295)gCc>gTc p.A3765V NM_004667.5 NP_004658.3 O95714 HERC2_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase 2 3765 DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process nucleus guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4) 204 all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227) all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199) TTTACCTAGGGCACTCAGCTG 0.507000 30 64 0 0 0.015359 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110487466 110487466 + Missense_Mutation SNP A A G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr8:110487466A>G ENST00000378402.5 + 51 8829 c.8725A>G c.(8725-8727)Att>Gtt p.I2909V NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 2909 immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) CATAACCAACATTTCATATAC 0.338000 HNSCC(38;0.096) 6 29 0 0 0.021553 0 0 POLG 5428 broad.mit.edu 37 15 89876485 89876485 + Silent SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr15:89876485C>T ENST00000268124.5 - 2 834 c.501G>A c.(499-501)ccG>ccA p.P167P POLG_ENST00000442287.2_Silent_p.P167P NM_001126131.1|NM_002693.2 NP_001119603.1|NP_002684.1 P54098 DPOG1_HUMAN polymerase (DNA directed), gamma 167 base-excision repair, gap-filling|cell death|DNA-dependent DNA replication mitochondrial nucleoid DNA binding|DNA-directed DNA polymerase activity|protease binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2) 33 Lung NSC(78;0.0472)|all_lung(78;0.089) STAD - Stomach adenocarcinoma(125;0.165) AGGCCCAAGCCGGGGGCTTCG 0.726000 DNA polymerases (catalytic subunits) 8 15 0 0 0.004482 0 0 PCDHGB3 56102 broad.mit.edu 37 5 140750142 140750142 + Missense_Mutation SNP T T G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr5:140750142T>G ENST00000576222.1 + 1 312 c.181T>G c.(181-183)Tta>Gta p.L61V PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron NM_018924.2|NM_032097.1 NP_061747.1|NP_115268.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGTGGGGGATTTACCTACTAG 0.557000 6 142 0 0 0.021553 0 0 KCNH7 90134 broad.mit.edu 37 2 163374317 163374317 + Missense_Mutation SNP C C A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr2:163374317C>A ENST00000332142.5 - 4 914 c.815G>T c.(814-816)aGa>aTa p.R272I KCNH7_ENST00000477019.1_5'UTR|KCNH7_ENST00000328032.4_Missense_Mutation_p.R272I NM_033272.3 NP_150375.2 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 7 272 regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) CGAAGATGCTCTCCGTATACT 0.458000 5 53 5.9392e-07 6.67063e-07 0.021553 1 0 PSMB5 5693 broad.mit.edu 37 14 23502633 23502633 + Missense_Mutation SNP T T C TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr14:23502633T>C ENST00000361611.6 - 2 712 c.449A>G c.(448-450)aAa>aGa p.K150R PSMB5_ENST00000493471.2_Missense_Mutation_p.K150R|PSMB5_ENST00000460922.2_Intron|PSMB5_ENST00000425762.2_Missense_Mutation_p.K47R NM_002797.3 NP_002788.1 P28074 PSB5_HUMAN proteasome (prosome, macropain) subunit, beta type, 5 150 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|interspecies interaction between organisms|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 protein binding|threonine-type endopeptidase activity kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1) 7 all_cancers(95;3.3e-05) GBM - Glioblastoma multiforme(265;0.0121) Bortezomib(DB00188) CCCCATGCCTTTGTACTGATA 0.517000 33 69 0 0 0.019004 0 0 ODF3 113746 broad.mit.edu 37 11 197593 197593 + Missense_Mutation SNP G G A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr11:197593G>A ENST00000325113.4 + 3 459 c.142G>A c.(142-144)Gca>Aca p.A48T ODF3_ENST00000525282.1_Missense_Mutation_p.A48T|BET1L_ENST00000410108.1_Intron|ODF3_ENST00000342593.5_Missense_Mutation_p.A48T NM_053280.3 NP_444510.2 Q96PU9 ODF3A_HUMAN outer dense fiber of sperm tails 3 48 cell differentiation|multicellular organismal development|spermatogenesis cytoplasm biliary_tract(1)|breast(1)|kidney(1)|large_intestine(2)|ovary(1)|prostate(2)|skin(1) 9 all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;3.95e-27)|Epithelial(43;2.66e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.55e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122) CAAGCTGCGTGCACCGGCCTA 0.637000 20 23 0 0 0.010504 0 0 SLC35F4 341880 broad.mit.edu 37 14 58036671 58036671 + Missense_Mutation SNP C C A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr14:58036671C>A ENST00000556826.1 - 6 1197 c.961G>T c.(961-963)Gcc>Tcc p.A321S SLC35F4_ENST00000339762.6_Missense_Mutation_p.A357S|SLC35F4_ENST00000554729.1_Missense_Mutation_p.A198S NM_001206920.1 NP_001193849.1 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 CCAAAGTTGGCACTTCCAAGA 0.428000 9 12 0.00829132 0.00863206 0.008291 1 0 BRSK1 84446 broad.mit.edu 37 19 55805723 55805723 + Silent SNP A A C TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr19:55805723A>C ENST00000309383.1 + 7 913 c.636A>C c.(634-636)gcA>gcC p.A212A BRSK1_ENST00000590333.1_Silent_p.A228A|BRSK1_ENST00000585418.1_Silent_p.A212A NM_032430.1 NP_115806.1 Q8TDC3 BRSK1_HUMAN BR serine/threonine kinase 1 212 Protein kinase. 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) GCCGCCGGGCAGACATGTGGA 0.587000 10 24 0 0 0.008291 0 0 MLNR 2862 broad.mit.edu 37 13 49796405 49796405 + Silent SNP G G A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr13:49796405G>A ENST00000218721.1 + 2 1131 c.1131G>A c.(1129-1131)ccG>ccA p.P377P MLNR_ENST00000398307.1_3'UTR NM_001507.1 NP_001498.1 O43193 MTLR_HUMAN motilin receptor 377 digestion integral to plasma membrane growth hormone-releasing hormone receptor activity endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1) 14 all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;6.1e-09) AGTCCAGGCCGAGAGGCTTCC 0.552000 29 15 0 0 0.027356 0 0 CD248 57124 broad.mit.edu 37 11 66083527 66083527 + Silent SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr11:66083527C>T ENST00000311330.3 - 1 988 c.972G>A c.(970-972)caG>caA p.Q324Q RP11-867G23.13_ENST00000534065.1_RNA NM_020404.2 NP_065137.1 Q9HCU0 CD248_HUMAN CD248 molecule, endosialin 324 EGF-like; calcium-binding (Potential). integral to membrane|proteinaceous extracellular matrix calcium ion binding|sugar binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2) 26 Cefalotin(DB00456) TGACACACATCTGCTGGCACA 0.602000 17 31 0 0 0.008871 0 0 RIPK4 54101 broad.mit.edu 37 21 43166824 43166824 + Missense_Mutation SNP G G A rs67846875 TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr21:43166824G>A ENST00000352483.2 - 5 845 c.781C>T c.(781-783)Ctc>Ttc p.L261F RIPK4_ENST00000542057.1_Missense_Mutation_p.L198F|RIPK4_ENST00000544709.1_Missense_Mutation_p.L198F|RIPK4_ENST00000332512.3_Missense_Mutation_p.L261F Q96T11 Q96T11_HUMAN receptor-interacting serine-threonine kinase 4 261 cytoplasm|nucleus ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 CGCTGCATGAGGCGTATCAGG 0.672000 22 42 0 0 0.021523 0 0 ASPM 259266 broad.mit.edu 37 1 197091324 197091324 + Missense_Mutation SNP G G T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr1:197091324G>T ENST00000367409.4 - 15 3962 c.3706C>A c.(3706-3708)Cat>Aat p.H1236N ASPM_ENST00000294732.7_Missense_Mutation_p.H1236N|ASPM_ENST00000367408.1_Missense_Mutation_p.H486N NM_018136.4 NP_060606.3 Q8IZT6 ASPM_HUMAN asp (abnormal spindle) homolog, microcephaly associated (Drosophila) 1236 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 ATATCTGAATGATTAATCATA 0.308000 10 40 0.000978159 0.0010373 0.010729 1 0 CD248 57124 broad.mit.edu 37 11 66083267 66083267 + Missense_Mutation SNP C C G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr11:66083267C>G ENST00000311330.3 - 1 1248 c.1232G>C c.(1231-1233)aGa>aCa p.R411T RP11-867G23.13_ENST00000534065.1_RNA NM_020404.2 NP_065137.1 Q9HCU0 CD248_HUMAN CD248 molecule, endosialin 411 Pro-rich. integral to membrane|proteinaceous extracellular matrix calcium ion binding|sugar binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2) 26 Cefalotin(DB00456) GAAGCTCGGTCTATAGGCCAG 0.647000 24 95 0 0 0.014410 0 0 SORCS3 22986 broad.mit.edu 37 10 106982948 106982948 + Missense_Mutation SNP G G A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr10:106982948G>A ENST00000369701.3 + 20 3036 c.2809G>A c.(2809-2811)Gtg>Atg p.V937M SORCS3_ENST00000369699.4_3'UTR NM_014978.1 NP_055793.1 Q9UPU3 SORC3_HUMAN sortilin-related VPS10 domain containing receptor 3 937 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) CAGTGCAGTCGTGTGGCCCAG 0.448000 50 53 0 0 0.014410 0 0 IQCC 55721 broad.mit.edu 37 1 32671343 32671343 + Missense_Mutation SNP G G A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr1:32671343G>A ENST00000537469.1 + 1 108 c.61G>A c.(61-63)Ggt>Agt p.G21S RP4-622L5.7_ENST00000421616.1_RNA|RP4-622L5.7_ENST00000373604.4_RNA|IQCC_ENST00000291358.6_Intron NM_001160042.1 NP_001153514.1 Q4KMZ1 IQCC_HUMAN IQ motif containing C 31 IQ. endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1) 15 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) GCGGGCGCGGGGTTCACAGGA 0.632000 3 8 0 0 0.009096 0 0 ZMIZ2 83637 broad.mit.edu 37 7 44801094 44801094 + Silent SNP T T C TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr7:44801094T>C ENST00000309315.4 + 10 1410 c.1287T>C c.(1285-1287)gaT>gaC p.D429D ZMIZ2_ENST00000413916.1_Silent_p.D371D|ZMIZ2_ENST00000433667.1_Silent_p.D397D|ZMIZ2_ENST00000441627.1_Silent_p.D429D|ZMIZ2_ENST00000265346.7_Silent_p.D403D NM_031449.3 NP_113637.3 Q8NF64 ZMIZ2_HUMAN zinc finger, MIZ-type containing 2 429 positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear replication fork ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 CTGTGCGCGATGGGGTGGTCC 0.612000 5 80 0 0 0.014758 0 0 PGLYRP2 114770 broad.mit.edu 37 19 15587132 15587132 + Missense_Mutation SNP A A T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr19:15587132A>T ENST00000292609.4 - 2 478 c.349T>A c.(349-351)Tcg>Acg p.S117T PGLYRP2_ENST00000340880.4_Missense_Mutation_p.S117T Q96PD5 PGRP2_HUMAN peptidoglycan recognition protein 2 117 defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process extracellular region|intracellular|membrane N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1) 28 GCCACGGTCGAGCCATCAGGT 0.627000 43 68 0 0 0.014410 0 0 BTBD3 22903 broad.mit.edu 37 20 11903683 11903683 + Missense_Mutation SNP T T A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr20:11903683T>A ENST00000405977.1 + 5 1563 c.938T>A c.(937-939)cTa>cAa p.L313Q BTBD3_ENST00000254977.3_Missense_Mutation_p.L252Q|BTBD3_ENST00000378226.2_Missense_Mutation_p.L313Q|BTBD3_ENST00000399006.2_Missense_Mutation_p.L252Q Q9Y2F9 BTBD3_HUMAN BTB (POZ) domain containing 3 313 breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2) 34 CGCAAGGTTCTAGGAAAGGCA 0.463000 37 37 0 0 0.021022 0 0 MICB 4277 broad.mit.edu 37 6 31473459 31473459 + Missense_Mutation SNP C C A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr6:31473459C>A ENST00000252229.6 + 2 215 c.136C>A c.(136-138)Ctc>Atc p.L46I MICB_ENST00000538442.1_Missense_Mutation_p.L14I|MICB_ENST00000399150.3_Missense_Mutation_p.L46I NM_005931.3 NP_005922.2 Q29980 MICB_HUMAN MHC class I polypeptide-related sequence B 46 antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid integral to plasma membrane|MHC class I protein complex natural killer cell lectin-like receptor binding NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1) 13 GTCAGGGTTTCTCGCTGAGGG 0.562000 27 19 2.4375e-19 2.9879e-19 0.034045 1 0 KRTAP5-8 57830 broad.mit.edu 37 11 71249400 71249400 + Missense_Mutation SNP G G T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr11:71249400G>T ENST00000398534.3 + 1 330 c.299G>T c.(298-300)tGt>tTt p.C100F NM_021046.2 NP_066384.2 O75690 KRA58_HUMAN keratin associated protein 5-8 100 9 X 4 AA repeats of C-C-X-P. extracellular region|keratin filament structural constituent of epidermis cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1) 6 TCCTCAGGCTGTGGGTCATCC 0.612000 72 504 3.79363e-24 4.70081e-24 0.014410 1 0 ZNF521 25925 broad.mit.edu 37 18 22806653 22806653 + Missense_Mutation SNP C C A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr18:22806653C>A ENST00000361524.3 - 4 1377 c.1229G>T c.(1228-1230)tGc>tTc p.C410F ZNF521_ENST00000584787.1_Missense_Mutation_p.C190F|ZNF521_ENST00000538137.2_Missense_Mutation_p.C410F NM_015461.2 NP_056276.1 Q96K83 ZN521_HUMAN zinc finger protein 521 410 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) TTGTTTGTTGCAGTAAATACA 0.438000 T PAX5 ALL 27 44 6.32553e-13 7.43413e-13 0.024334 1 0 C5 727 broad.mit.edu 37 9 123797114 123797114 + Missense_Mutation SNP G G C TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr9:123797114G>C ENST00000223642.1 - 5 580 c.551C>G c.(550-552)tCt>tGt p.S184C NM_001735.2 NP_001726.2 P01031 CO5_HUMAN complement component 5 184 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) GTCAGGAAAAGAGATAATTCC 0.353000 12 22 0 0 0.016723 0 0 CHRNB4 1143 broad.mit.edu 37 15 78923490 78923490 + Missense_Mutation SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr15:78923490C>T ENST00000261751.3 - 4 398 c.287G>A c.(286-288)cGc>cAc p.R96H CHRNB4_ENST00000412074.2_Missense_Mutation_p.R96H|CHRNB4_ENST00000560511.1_5'UTR NM_000750.3 NP_000741.1 P30926 ACHB4_HUMAN cholinergic receptor, nicotinic, beta 4 (neuronal) 96 regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity endometrium(7)|kidney(1)|lung(13)|prostate(1) 22 ACCCTCGTAGCGGGAGCTGTT 0.577000 27 72 0 0 0.030593 0 0 HSPH1 10808 broad.mit.edu 37 13 31711647 31711647 + Silent SNP T T C TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr13:31711647T>C ENST00000320027.5 - 18 2729 c.2385A>G c.(2383-2385)acA>acG p.T795T HSPH1_ENST00000445273.2_Silent_p.T797T|HSPH1_ENST00000429785.2_Silent_p.T614T|HSPH1_ENST00000380405.4_Silent_p.T751T|HSPH1_ENST00000380406.5_Silent_p.T754T NM_006644.2 NP_006635.2 Q92598 HS105_HUMAN heat shock 105kDa/110kDa protein 1 795 positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein cytoplasm|extracellular region ATP binding breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 27 Lung SC(185;0.0257) all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125) CGGGTTCACATGTGTTGTTCA 0.358000 23 22 0 0 0.018920 0 0 CD248 57124 broad.mit.edu 37 11 66083928 66083928 + Missense_Mutation SNP C C G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr11:66083928C>G ENST00000311330.3 - 1 587 c.571G>C c.(571-573)Gag>Cag p.E191Q RP11-867G23.13_ENST00000534065.1_RNA NM_020404.2 NP_065137.1 Q9HCU0 CD248_HUMAN CD248 molecule, endosialin 191 Sushi. integral to membrane|proteinaceous extracellular matrix calcium ion binding|sugar binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2) 26 Cefalotin(DB00456) GGCAGCCACTCAAACTCTGTG 0.677000 12 22 0 0 0.013537 0 0 MYH10 4628 broad.mit.edu 37 17 8383589 8383589 + Missense_Mutation SNP C C A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr17:8383589C>A ENST00000360416.3 - 40 5574 c.5436G>T c.(5434-5436)caG>caT p.Q1812H NDEL1_ENST00000299734.7_Intron|MYH10_ENST00000379980.4_Missense_Mutation_p.Q1797H|MYH10_ENST00000396239.1_Missense_Mutation_p.Q1802H|MYH10_ENST00000269243.4_Missense_Mutation_p.Q1781H NM_001256012.1 NP_001242941.1 P35580 MYH10_HUMAN myosin, heavy chain 10, non-muscle 1781 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 TGTCACTCTTCTGGGCGGCGC 0.592000 33 71 1.57351e-24 1.96044e-24 0.017118 1 0 CD248 57124 broad.mit.edu 37 11 66083244 66083244 + Missense_Mutation SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr11:66083244C>T ENST00000311330.3 - 1 1271 c.1255G>A c.(1255-1257)Gag>Aag p.E419K RP11-867G23.13_ENST00000534065.1_RNA NM_020404.2 NP_065137.1 Q9HCU0 CD248_HUMAN CD248 molecule, endosialin 419 Pro-rich. integral to membrane|proteinaceous extracellular matrix calcium ion binding|sugar binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2) 26 Cefalotin(DB00456) ATCTGTGGCTCTCTGTCCTCT 0.657000 28 107 0 0 0.014410 0 0 GJA1 2697 broad.mit.edu 37 6 121768632 121768632 + Missense_Mutation SNP G G T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr6:121768632G>T ENST00000282561.3 + 2 796 c.639G>T c.(637-639)atG>atT p.M213I NM_000165.3 NP_000156.1 P17302 CXA1_HUMAN gap junction protein, alpha 1, 43kDa 213 cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft ion transmembrane transporter activity|signal transducer activity autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2) 33 GBM - Glioblastoma multiforme(226;0.00252) Carvedilol(DB01136) TCATCTTCATGCTGGTGGTGT 0.488000 47 78 2.27781e-18 2.77722e-18 0.014410 1 0 RP11-45M22.4 0 broad.mit.edu 37 17 17120410 17120410 + Missense_Mutation SNP G G A rs150752548 TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr17:17120410G>A ENST00000427497.3 - 6 771 c.271C>T c.(271-273)Cgt>Tgt p.R91C FLCN_ENST00000285071.4_Silent_p.L383L CTGACTGGACGAGGTCCACGT 0.567000 12 29 0 0 0.013537 0 0 HS1BP3 64342 broad.mit.edu 37 2 20818936 20818936 + Silent SNP G G T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr2:20818936G>T ENST00000304031.3 - 7 1015 c.990C>A c.(988-990)ccC>ccA p.P330P NM_022460.3 NP_071905.3 Q53T59 H1BP3_HUMAN HCLS1 binding protein 3 330 Pro-rich. cell communication phosphatidylinositol binding endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2) 15 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CTGGTggcttgggcttaagct 0.602000 37 67 1.90571e-15 2.28685e-15 0.019004 1 0 MBD1 4152 broad.mit.edu 37 18 47799236 47799236 + Silent SNP T T C TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr18:47799236T>C ENST00000591416.1 - 14 2105 c.1674A>G c.(1672-1674)aaA>aaG p.K558K MBD1_ENST00000398493.1_Silent_p.K502K|MBD1_ENST00000590208.1_Silent_p.K558K|MBD1_ENST00000585672.1_Silent_p.K508K|MBD1_ENST00000585595.1_Silent_p.K583K|MBD1_ENST00000398495.2_Silent_p.K527K|MBD1_ENST00000457839.2_Silent_p.K583K|MBD1_ENST00000436910.1_Silent_p.K489K|MBD1_ENST00000398488.1_Silent_p.K456K|MBD1_ENST00000588937.1_Silent_p.K489K|MBD1_ENST00000587605.1_Silent_p.K456K|MBD1_ENST00000382948.5_Silent_p.K558K|MBD1_ENST00000353909.3_Silent_p.K509K|MBD1_ENST00000349085.2_Silent_p.K456K|MBD1_ENST00000347968.3_Silent_p.K502K|MBD1_ENST00000269468.5_Silent_p.K558K|MBD1_ENST00000269471.5_Silent_p.K489K|MBD1_ENST00000424334.2_Silent_p.K609K|MBD1_ENST00000591535.1_Silent_p.K489K|MBD1_ENST00000339998.6_Silent_p.K512K Q9UIS9 MBD1_HUMAN methyl-CpG binding domain protein 1 558 TRD. negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|nuclear speck methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 CTGGGGCCAATTTGGAGGCAG 0.607000 3 49 0 0 0.004672 0 0 NPAP1 23742 broad.mit.edu 37 15 24921325 24921325 + Missense_Mutation SNP A A C TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr15:24921325A>C ENST00000329468.2 + 1 785 c.311A>C c.(310-312)aAc>aCc p.N104T NM_018958.2 NP_061831.2 nuclear pore associated protein 1 CCTGCTCGGAACCCCCCGAGG 0.682000 4 49 0 0 0.009096 0 0 MNT 4335 broad.mit.edu 37 17 2290453 2290453 + Silent SNP G G C TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr17:2290453G>C ENST00000174618.4 - 6 1896 c.1491C>G c.(1489-1491)acC>acG p.T497T NM_020310.2 NP_064706.1 Q99583 MNT_HUMAN MAX network transcriptional repressor 497 multicellular organismal development|negative regulation of cell proliferation|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity endometrium(4)|large_intestine(5)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 12 Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05) CATGGTTGAGGGTGGCAGGGT 0.682000 7 5 0 0 0.004482 0 0 ZC3H11A 9877 broad.mit.edu 37 1 203786208 203786208 + Missense_Mutation SNP C C G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr1:203786208C>G ENST00000545588.1 + 2 3837 c.10C>G c.(10-12)Caa>Gaa p.Q4E ZC3H11A_ENST00000367214.1_Missense_Mutation_p.Q4E|ZC3H11A_ENST00000332127.4_Missense_Mutation_p.Q4E|ZC3H11A_ENST00000367212.3_Missense_Mutation_p.Q4E|ZC3H11A_ENST00000367210.1_Missense_Mutation_p.Q4E NM_001271675.1 NP_001258604.1 O75152 ZC11A_HUMAN zinc finger CCCH-type containing 11A 4 nucleic acid binding|protein binding|zinc ion binding central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 32 all_cancers(21;0.0904)|all_epithelial(62;0.234) BRCA - Breast invasive adenocarcinoma(75;0.109) CATGCCTAATCAAGGAGAAGA 0.388000 16 89 0 0 0.038395 0 0 CC2D2B 387707 broad.mit.edu 37 10 97779477 97779477 + Missense_Mutation SNP C C G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr10:97779477C>G ENST00000344386.3 + 8 840 c.676C>G c.(676-678)Caa>Gaa p.Q226E CC2D2B_ENST00000410012.2_Missense_Mutation_p.Q226E|CC2D2B_ENST00000371198.2_Intron|RP11-690P14.4_ENST00000475252.2_Intron|ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1-AS1_ENST00000452728.1_RNA|ENTPD1-AS1_ENST00000454638.1_RNA|ENTPD1-AS1_ENST00000458228.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA NM_001001732.3 NP_001001732.2 Q6DHV5 C2D2B_HUMAN coiled-coil and C2 domain containing 2B 226 large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1) 10 Colorectal(252;0.158) Epithelial(162;7.08e-08)|all cancers(201;2.71e-06) TAATATTCAACAAAATAATAC 0.333000 34 126 0 0 0.012213 0 0 MUC5B 727897 broad.mit.edu 37 11 1266085 1266085 + Missense_Mutation SNP C C G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr11:1266085C>G ENST00000447027.1 + 31 8042 c.7984C>G c.(7984-7986)Ccc>Gcc p.P2662A MUC5B_ENST00000529681.1_Missense_Mutation_p.P2659A|RP11-532E4.2_ENST00000532061.2_RNA Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 2659 11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich. Missing (in Ref. 6; AAB61398). cell adhesion extracellular region extracellular matrix structural constituent|protein binding p.P2638A(1) 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) CACCCACACCCCCACAGTGCT 0.617000 3 54 0 0 0.009096 0 0 FUT2 2524 broad.mit.edu 37 19 49206855 49206855 + Missense_Mutation SNP G G C TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr19:49206855G>C ENST00000425340.2 + 2 759 c.642G>C c.(640-642)aaG>aaC p.K214N FUT2_ENST00000391876.4_Missense_Mutation_p.K214N NM_000511.5|NM_001097638.2 NP_000502.4|NP_001091107.1 Q10981 FUT2_HUMAN fucosyltransferase 2 (secretor status included) 214 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane galactoside 2-alpha-L-fucosyltransferase activity breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2) 7 all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017) AAGTGTGGAAGGGGGTGGTGG 0.627000 34 54 0 0 0.019004 0 0 TBCK 93627 broad.mit.edu 37 4 107165855 107165855 + Missense_Mutation SNP C C G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr4:107165855C>G ENST00000273980.4 - 12 1445 c.998G>C c.(997-999)gGa>gCa p.G333A TBCK_ENST00000394706.3_Missense_Mutation_p.G294A|TBCK_ENST00000432496.2_Missense_Mutation_p.G333A|TBCK_ENST00000394708.2_Missense_Mutation_p.G333A|TBCK_ENST00000361687.4_Missense_Mutation_p.G270A Q8TEA7 TBCK_HUMAN TBC1 domain containing kinase 333 intracellular Rab GTPase activator activity NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1) 25 CAAGTCACCTCCAGCCAAACA 0.363000 18 12 0 0 0.043863 0 0 PTPLAD2 401494 broad.mit.edu 37 9 21029378 21029378 + Missense_Mutation SNP G G A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr9:21029378G>A ENST00000495827.1 - 2 103 c.58C>T c.(58-60)Ctt>Ttt p.L20F PTPLAD2_ENST00000513293.2_Missense_Mutation_p.L20F NM_001010915.3 NP_001010915.2 Q5VWC8 HACD4_HUMAN protein tyrosine phosphatase-like A domain containing 2 20 fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane lyase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1) 10 Lung(24;6.02e-14)|LUSC - Lung squamous cell carcinoma(38;1.29e-10) TAGATGAAAAGATACGCATTC 0.328000 23 73 0 0 0.016522 0 0 SNX4 8723 broad.mit.edu 37 3 125172710 125172710 + Silent SNP T T C TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr3:125172710T>C ENST00000251775.4 - 12 1158 c.1134A>G c.(1132-1134)ctA>ctG p.L378L SNX4_ENST00000536067.1_Silent_p.L233L NM_003794.2 NP_003785.1 O95219 SNX4_HUMAN sorting nexin 4 378 cell communication|endocytic recycling|endocytosis|protein transport cytoplasmic dynein complex|early endosome membrane phosphatidylinositol binding|protein binding breast(2)|central_nervous_system(1)|lung(6)|ovary(1)|skin(1) 11 TTTGTTCTTCTAGCACCTTTA 0.393000 20 46 0 0 0.012319 0 0 ZNF750 79755 broad.mit.edu 37 17 80790003 80790003 + Missense_Mutation SNP C C G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr17:80790003C>G ENST00000269394.3 - 2 1161 c.328G>C c.(328-330)Gac>Cac p.D110H TBCD_ENST00000397466.2_Intron|TBCD_ENST00000355528.4_Intron|ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000539345.2_Intron NM_024702.2 NP_078978.2 Q32MQ0 ZN750_HUMAN zinc finger protein 750 110 intracellular zinc ion binding NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 31 Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0514)|all_epithelial(8;0.0748) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149) TCCTTGATGTCTTCCCTGGCA 0.612000 9 55 0 0 0.008291 0 0 GOLIM4 27333 broad.mit.edu 37 3 167747722 167747722 + Missense_Mutation SNP G G C TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr3:167747722G>C ENST00000470487.1 - 10 1968 c.1279C>G c.(1279-1281)Ctg>Gtg p.L427V GOLIM4_ENST00000309027.4_Missense_Mutation_p.L399V NM_014498.3 NP_055313.1 O00461 GOLI4_HUMAN golgi integral membrane protein 4 427 Gln-rich.|Glu-rich. transport cis-Golgi network|endocytic vesicle|endosome membrane|Golgi cisterna membrane|Golgi lumen|integral to membrane|nucleus breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 tgttcccgcagctgctgGGCC 0.577000 30 112 0 0 0.045705 0 0 ZNF394 84124 broad.mit.edu 37 7 99091989 99091989 + Silent SNP A A G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr7:99091989A>G ENST00000337673.6 - 3 1052 c.849T>C c.(847-849)aaT>aaC p.N283N ZNF394_ENST00000426306.2_3'UTR|ZNF789_ENST00000493485.1_Intron|ZNF789_ENST00000494186.1_Intron NM_032164.2 NP_115540.2 Q53GI3 ZN394_HUMAN zinc finger protein 394 283 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1) 16 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) GCAATTCATTATTTTTAGAGT 0.458000 9 103 0 0 0.004482 0 0 KCNQ3 3786 broad.mit.edu 37 8 133141630 133141630 + Missense_Mutation SNP A A T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr8:133141630A>T ENST00000388996.4 - 15 2918 c.2498T>A c.(2497-2499)cTc>cAc p.L833H KCNQ3_ENST00000519445.1_Missense_Mutation_p.L821H|KCNQ3_ENST00000521134.1_Missense_Mutation_p.L713H NM_004519.3 NP_004510.1 O43525 KCNQ3_HUMAN potassium voltage-gated channel, KQT-like subfamily, member 3 833 axon guidance|synaptic transmission voltage-gated potassium channel complex voltage-gated potassium channel activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 70 Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000311) ACCCTCGGCGAGGTACCGCTT 0.597000 8 34 0 0 0.004482 0 0 COL12A1 1303 broad.mit.edu 37 6 75851809 75851809 + Silent SNP G G A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr6:75851809G>A ENST00000322507.8 - 27 5205 c.4896C>T c.(4894-4896)gtC>gtT p.V1632V COL12A1_ENST00000483888.2_Silent_p.V1632V|COL12A1_ENST00000416123.2_Silent_p.V1632V|COL12A1_ENST00000345356.6_Silent_p.V468V NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 1632 Fibronectin type-III 11. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 CAGAAACGCTGACTGTGTACA 0.493000 47 61 0 0 0.014410 0 0 PIGS 94005 broad.mit.edu 37 17 26882020 26882020 + Missense_Mutation SNP G G C TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr17:26882020G>C ENST00000308360.7 - 11 1616 c.1241C>G c.(1240-1242)aCg>aGg p.T414R PIGS_ENST00000395346.2_Missense_Mutation_p.T406R|PIGS_ENST00000543734.1_Missense_Mutation_p.T353R NM_033198.3 NP_149975.1 Q96S52 PIGS_HUMAN phosphatidylinositol glycan anchor biosynthesis, class S 414 attachment of GPI anchor to protein|C-terminal protein lipidation GPI-anchor transamidase complex protein binding breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Lung NSC(42;0.00431) CCCTTCACTCGTAGGCCCTGA 0.592000 18 25 0 0 0.043863 0 0 ERCC6L 54821 broad.mit.edu 37 X 71426165 71426165 + Missense_Mutation SNP A A C TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chrX:71426165A>C ENST00000373657.1 - 3 2685 c.2083T>G c.(2083-2085)Ttt>Gtt p.F695V ERCC6L_ENST00000334463.3_Missense_Mutation_p.F818V|PIN4_ENST00000423432.2_Intron Q2NKX8 ERC6L_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6-like 818 cell division|mitotic prometaphase condensed chromosome kinetochore|cytosol ATP binding|DNA binding|helicase activity|protein binding breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1) 38 Renal(35;0.156) ACACTTCCAAACCCCTTTGGT 0.383000 23 10 0 0 0.014323 0 0 SRRM1 10250 broad.mit.edu 37 1 24978993 24978993 + Missense_Mutation SNP C C G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr1:24978993C>G ENST00000323848.9 + 7 1109 c.794C>G c.(793-795)tCc>tGc p.S265C SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000374389.4_Missense_Mutation_p.S265C|SRRM1_ENST00000537199.1_Missense_Mutation_p.S134C|SRRM1_ENST00000447431.2_Missense_Mutation_p.S265C NM_005839.3 NP_005830.2 Q8IYB3 SRRM1_HUMAN serine/arginine repetitive matrix 1 265 Arg-rich.|Pro-rich. mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck DNA binding|protein binding|RNA binding breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2) 36 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138) GAAAAAAATTCCAAAAAAGAA 0.448000 10 11 0 0 0.006214 0 0 ZMAT4 79698 broad.mit.edu 37 8 40554847 40554847 + Missense_Mutation SNP A A G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr8:40554847A>G ENST00000297737.6 - 4 412 c.266T>C c.(265-267)gTg>gCg p.V89A ZMAT4_ENST00000315769.7_Missense_Mutation_p.V89A NM_024645.2 NP_078921.1 Q9H898 ZMAT4_HUMAN zinc finger, matrin-type 4 89 nucleus DNA binding|zinc ion binding NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 18 Ovarian(28;0.00724)|Colorectal(14;0.0468) all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152) LUSC - Lung squamous cell carcinoma(45;0.00722) GGAATCGGCCACCACCGCTGA 0.502000 23 62 0 0 0.014323 0 0 ZRANB3 84083 broad.mit.edu 37 2 135988170 135988170 + Missense_Mutation SNP C C G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr2:135988170C>G ENST00000401392.1 - 13 2079 c.1867G>C c.(1867-1869)Gag>Cag p.E623Q ZRANB3_ENST00000536680.1_Missense_Mutation_p.E623Q|ZRANB3_ENST00000412849.1_5'UTR|ZRANB3_ENST00000264159.6_Missense_Mutation_p.E623Q Q5FWF4 ZRAB3_HUMAN zinc finger, RAN-binding domain containing 3 623 intracellular ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.135) TGCCAGCCCTCTACAGGAAAG 0.488000 21 35 0 0 0.010504 0 0 KCNJ11 3767 broad.mit.edu 37 11 17409554 17409554 + Missense_Mutation SNP G G A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr11:17409554G>A ENST00000339994.4 - 1 652 c.85C>T c.(85-87)Cgc>Tgc p.R29C KCNJ11_ENST00000528731.1_Intron NM_000525.3 NP_000516.3 B4DWI4 B4DWI4_HUMAN potassium inwardly-rectifying channel, subfamily J, member 11 0 integral to membrane ATP-activated inward rectifier potassium channel activity endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2) 16 READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633) CTCCGCTGGCGGGCACGGTAC 0.652000 24 50 0 0 0.018920 0 0 VPS13B 157680 broad.mit.edu 37 8 100880545 100880545 + Silent SNP G G A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr8:100880545G>A ENST00000358544.2 + 59 11430 c.11319G>A c.(11317-11319)ccG>ccA p.P3773P VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.P3748P NM_017890.4 NP_060360.3 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 3773 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) TTGATCAGCCGATGCAGAACT 0.493000 17 50 0 0 0.033300 0 0 NBPF9 400818 broad.mit.edu 37 1 144828684 144828684 + Missense_Mutation SNP A A G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr1:144828684A>G ENST00000338347.4 + 14 1730 c.1730A>G c.(1729-1731)cAg>cGg p.Q577R NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000440491.2_3'UTR|NBPF9_ENST00000281815.8_Missense_Mutation_p.Q175R neuroblastoma breakpoint family, member 9 NS(2)|prostate(1) 3 TTTGAGGAACAGCACATCAGC 0.433000 11 388 0 0 0.020292 0 0 ACIN1 22985 broad.mit.edu 37 14 23535181 23535181 + Missense_Mutation SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr14:23535181C>T ENST00000262710.1 - 10 2803 c.2476G>A c.(2476-2478)Gtt>Att p.V826I ACIN1_ENST00000555053.1_Missense_Mutation_p.V826I|ACIN1_ENST00000605057.1_Missense_Mutation_p.V768I|ACIN1_ENST00000457657.1_Missense_Mutation_p.V786I|ACIN1_ENST00000397341.3_Missense_Mutation_p.V68I|ACIN1_ENST00000557515.1_Missense_Mutation_p.V68I|ACIN1_ENST00000357481.2_Missense_Mutation_p.V68I|ACIN1_ENST00000338631.6_Missense_Mutation_p.V99I NM_001164814.1|NM_014977.3 NP_001158286.1|NP_055792.1 Q9UKV3 ACINU_HUMAN apoptotic chromatin condensation inducer 1 826 apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation cytosol ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 37 all_cancers(95;1.36e-05) GBM - Glioblastoma multiforme(265;0.00816) TTACAGACAACGGAGATCTTC 0.433000 15 39 0 0 0.043863 0 0 TNNI2 7136 broad.mit.edu 37 11 1862048 1862048 + Splice_Site SNP G G A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr11:1862048G>A ENST00000381906.1 + 6 255 c.e6-1 TNNI2_ENST00000381905.3_Splice_Site|TNNI2_ENST00000381911.1_Splice_Site|TNNI2_ENST00000252898.7_Splice_Site NM_001145829.1 NP_001139301.1 P48788 TNNI2_HUMAN troponin I type 2 (skeletal, fast) muscle filament sliding|positive regulation of transcription, DNA-dependent|skeletal muscle contraction cytosol|nucleus|troponin complex actin binding|troponin T binding lung(8)|prostate(1)|urinary_tract(1) 10 all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082) CCCACCCCTAGGAGCTCTGCA 0.637000 7 10 0 0 0.038147 0 0 CD248 57124 broad.mit.edu 37 11 66084084 66084084 + Missense_Mutation SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr11:66084084C>T ENST00000311330.3 - 1 431 c.415G>A c.(415-417)Gag>Aag p.E139K RP11-867G23.13_ENST00000534065.1_RNA NM_020404.2 NP_065137.1 Q9HCU0 CD248_HUMAN CD248 molecule, endosialin 139 C-type lectin. integral to membrane|proteinaceous extracellular matrix calcium ion binding|sugar binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2) 26 Cefalotin(DB00456) CAGCGGTGCTCGCCACTTGCC 0.706000 21 17 0 0 0.014323 0 0 LPAR4 2846 broad.mit.edu 37 X 78011180 78011180 + Missense_Mutation SNP T T G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chrX:78011180T>G ENST00000435339.2 + 2 1219 c.814T>G c.(814-816)Tat>Gat p.Y272D LPAR4_ENST00000373301.2_Missense_Mutation_p.Y272D NM_005296.2 NP_005287.1 Q99677 LPAR4_HUMAN lysophosphatidic acid receptor 4 272 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 CCTCTTCTTGTATGCCCTGGT 0.408000 21 9 0 0 0.010504 0 0 CST9L 128821 broad.mit.edu 37 20 23545618 23545618 + Silent SNP G G C TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr20:23545618G>C ENST00000376979.3 - 3 709 c.411C>G c.(409-411)ctC>ctG p.L137L NM_080610.2 NP_542177.1 Q9H4G1 CST9L_HUMAN cystatin 9-like 137 extracellular region cysteine-type endopeptidase inhibitor activity breast(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1) 8 Colorectal(13;0.0431)|Lung NSC(19;0.235) TCTTGTTCAGGAGGCTGAACT 0.552000 21 19 0 0 0.018920 0 0 AHCYL2 23382 broad.mit.edu 37 7 129043233 129043233 + Missense_Mutation SNP G G C TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr7:129043233G>C ENST00000325006.3 + 7 986 c.932G>C c.(931-933)gGa>gCa p.G311A AHCYL2_ENST00000446544.2_Missense_Mutation_p.G310A|AHCYL2_ENST00000446212.1_Missense_Mutation_p.G209A|AHCYL2_ENST00000490911.1_Missense_Mutation_p.G208A|AHCYL2_ENST00000531335.2_Missense_Mutation_p.G230A|AHCYL2_ENST00000474594.1_Missense_Mutation_p.G208A NM_001130720.2|NM_015328.3 NP_001124192.1|NP_056143.1 Q96HN2 SAHH3_HUMAN adenosylhomocysteinase-like 2 311 one-carbon metabolic process adenosylhomocysteinase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1) 22 TTGGATGATGGAGGGGATCTT 0.403000 30 54 0 0 0.012213 0 0 CELSR3 1951 broad.mit.edu 37 3 48694603 48694603 + Silent SNP G G A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr3:48694603G>A ENST00000544264.1 - 2 4207 c.3927C>T c.(3925-3927)gaC>gaT p.D1309D CELSR3_ENST00000164024.4_Silent_p.D1309D Q9NYQ7 CELR3_HUMAN cadherin, EGF LAG seven-pass G-type receptor 3 1309 homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 83 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) AGATGAAGACGTCCTCAGCGG 0.657000 9 14 0 0 0.006214 0 0 SNX33 257364 broad.mit.edu 37 15 75942185 75942185 + Missense_Mutation SNP A A G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr15:75942185A>G ENST00000308527.5 + 1 1939 c.742A>G c.(742-744)Agc>Ggc p.S248G NM_153271.1 NP_695003.1 Q8WV41 SNX33_HUMAN sorting nexin 33 248 PX. cell communication phosphatidylinositol binding|protein binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2) 19 GGGCATCAAAAGCTACATCTC 0.547000 12 212 0 0 0.016723 0 0 UBR2 23304 broad.mit.edu 37 6 42603184 42603184 + Missense_Mutation SNP G G A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr6:42603184G>A ENST00000372901.1 + 14 1832 c.1574G>A c.(1573-1575)gGa>gAa p.G525E UBR2_ENST00000372899.1_Missense_Mutation_p.G525E|UBR2_ENST00000372883.3_Missense_Mutation_p.G29E Q8IWV8 UBR2_HUMAN ubiquitin protein ligase E3 component n-recognin 2 525 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) CGTCAAGTAGGACAACATATT 0.348000 16 10 0 0 0.028581 0 0 TRMT10C 54931 broad.mit.edu 37 3 101283915 101283915 + Missense_Mutation SNP T T G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr3:101283915T>G ENST00000309922.6 + 2 444 c.290T>G c.(289-291)tTc>tGc p.F97C NM_017819.2 NP_060289.2 tRNA methyltransferase 10 homolog C (S. cerevisiae) ACCAGAGAGTTCATTGAGATG 0.403000 14 60 0 0 0.028581 0 0 SLC6A4 6532 broad.mit.edu 37 17 28537590 28537590 + Silent SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr17:28537590C>T ENST00000401766.2 - 10 1904 c.1392G>A c.(1390-1392)cgG>cgA p.R464R SLC6A4_ENST00000261707.3_Silent_p.R464R P31645 SC6A4_HUMAN solute carrier family 6 (neurotransmitter transporter), member 4 464 response to toxin|serotonin uptake|thalamus development cytosol|endomembrane system|endosome membrane|membrane raft actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4) 25 Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832) CGAGCACGAACCGCTCCCGGC 0.597000 12 48 0 0 0.013537 0 0 ANKAR 150709 broad.mit.edu 37 2 190584297 190584297 + Splice_Site SNP G G A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr2:190584297G>A ENST00000520309.1 + 11 2312 c.e11-1 ANKAR_ENST00000313581.4_Splice_Site|ANKAR_ENST00000281412.6_Splice_Site|ANKAR_ENST00000431575.2_Splice_Site|ANKAR_ENST00000438402.2_Splice_Site NM_144708.3 NP_653309.3 Q7Z5J8 ANKAR_HUMAN ankyrin and armadillo repeat containing 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) TGTCATTACAGGCACCATTCC 0.313000 4 117 0 0 0.014758 0 0 POM121L9P 29774 broad.mit.edu 37 22 24659578 24659578 + RNA SNP A A G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr22:24659578A>G ENST00000414583.2 + 0 3103 NR_003714.1 TGCGCAGGCCAACACTCACTG 0.617000 5 21 0 0 0.014758 0 0 KIAA0556 23247 broad.mit.edu 37 16 27765493 27765493 + Splice_Site SNP G G A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr16:27765493G>A ENST00000261588.4 + 18 3571 c.e18-1 NM_015202.2 NP_056017.2 O60303 K0556_HUMAN KIAA0556 breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 76 CCCATGTGCAGATCCCGGAGC 0.562000 31 30 0 0 0.017118 0 0 FILIP1L 11259 broad.mit.edu 37 3 99569270 99569270 + Missense_Mutation SNP A A C TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr3:99569270A>C ENST00000331335.5 - 5 1720 c.1250T>G c.(1249-1251)gTt>gGt p.V417G CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000487087.1_5'UTR|FILIP1L_ENST00000383694.2_Missense_Mutation_p.V177G|FILIP1L_ENST00000471562.1_Missense_Mutation_p.V177G|FILIP1L_ENST00000476723.1_Intron|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000354552.3_Missense_Mutation_p.V417G NM_001042459.1 NP_001035924.1 Q4L180 FIL1L_HUMAN filamin A interacting protein 1-like 417 cytoplasm|membrane|myosin complex|nucleus breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 35 GAGTTTTTCAACCTCTAGTTT 0.368000 45 46 0 0 0.036044 0 0 EXD2 55218 broad.mit.edu 37 14 69704290 69704290 + Splice_Site SNP A A G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr14:69704290A>G ENST00000409014.1 + 10 1574 c.e10-1 EXD2_ENST00000449989.1_Splice_Site|EXD2_ENST00000492815.1_Splice_Site|EXD2_ENST00000409949.1_Splice_Site|EXD2_ENST00000409675.1_Splice_Site|EXD2_ENST00000409242.1_Splice_Site|EXD2_ENST00000409018.3_Splice_Site|EXD2_ENST00000312994.5_Splice_Site NM_001193360.1 NP_001180289.1 Q9NVH0 EXD2_HUMAN exonuclease 3'-5' domain containing 2 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process intracellular 3'-5' exonuclease activity|nucleic acid binding breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1) 14 GGCTTGTTCCAGGAAGAACGT 0.552000 14 23 0 0 0.024245 0 0 HRASLS2 54979 broad.mit.edu 37 11 63325937 63325937 + Missense_Mutation SNP G G A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr11:63325937G>A ENST00000255695.1 - 3 372 c.314C>T c.(313-315)cCt>cTt p.P105L NM_017878.1 NP_060348.1 Q9NWW9 HRSL2_HUMAN HRAS-like suppressor 2 105 lipid catabolic process cytoplasm acyltransferase activity|hydrolase activity breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1) 6 CAGCGAATAAGGCAACTCCTG 0.547000 12 46 0 0 0.013537 0 0 WNT8A 7478 broad.mit.edu 37 5 137426396 137426396 + Silent SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr5:137426396C>T ENST00000506684.1 + 5 980 c.744C>T c.(742-744)agC>agT p.S248S WNT8A_ENST00000398754.1_Silent_p.S230S Q9H1J5 WNT8A_HUMAN wingless-type MMTV integration site family, member 8A 230 brain segmentation|canonical Wnt receptor signaling pathway involved in neural crest cell differentiation|cell migration involved in gastrulation|dorsal/ventral pattern formation|ectoderm development|endoderm development|eye development|hindbrain development|mesodermal cell fate commitment|negative regulation of Wnt receptor signaling pathway|neural crest cell fate commitment|neural plate pattern specification|notochord development|palate development|polarity specification of anterior/posterior axis|polarity specification of proximal/distal axis|positive regulation of fibroblast growth factor receptor signaling pathway|regulation of transcription involved in anterior/posterior axis specification|response to retinoic acid|somitogenesis|spinal cord anterior/posterior patterning|tail morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix frizzled binding|signal transducer activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2) 18 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) CTGGGAACAGCGCCGAGGGCC 0.542000 19 28 0 0 0.038395 0 0 COPB2 9276 broad.mit.edu 37 3 139092255 139092255 + Splice_Site SNP C C A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr3:139092255C>A ENST00000333188.5 - 9 1076 c.e9-1 COPB2_ENST00000507777.1_Splice_Site NM_004766.2 NP_004757.1 P35606 COPB2_HUMAN coatomer protein complex, subunit beta 2 (beta prime) COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol protein binding|structural molecule activity breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 24 CCCGACCAAGCTGAAAGAAAG 0.408000 9 29 3.09899e-07 3.49786e-07 0.004482 1 0 SEL1L 6400 broad.mit.edu 37 14 81965995 81965995 + Missense_Mutation SNP A A T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr14:81965995A>T ENST00000336735.4 - 7 905 c.789T>A c.(787-789)ttT>ttA p.F263L SEL1L_ENST00000555824.1_Missense_Mutation_p.F263L NM_005065.5 NP_005056.3 Q9UBV2 SE1L1_HUMAN sel-1 suppressor of lin-12-like (C. elegans) 263 Interaction with ERLEC1, OS9 and SYVN1. Notch signaling pathway endoplasmic reticulum membrane|integral to membrane protein binding breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3) 28 BRCA - Breast invasive adenocarcinoma(234;0.0299) AGGCATACAGAAAGCCAAGAG 0.338000 8 34 0 0 0.006214 0 0 JAG1 182 broad.mit.edu 37 20 10620273 10620273 + Missense_Mutation SNP G G A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr20:10620273G>A ENST00000254958.5 - 26 4045 c.3530C>T c.(3529-3531)aCg>aTg p.T1177M JAG1_ENST00000423891.2_Missense_Mutation_p.T1018M NM_000214.2 NP_000205.1 P78504 JAG1_HUMAN jagged 1 1177 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 GTCTACCAGCGTGTACGCCGG 0.507000 Alagille Syndrome 82 41 0 0 0.014410 0 0 TMEM5 10329 broad.mit.edu 37 12 64202512 64202512 + Missense_Mutation SNP G G C TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr12:64202512G>C ENST00000537373.1 + 6 1140 c.192G>C c.(190-192)caG>caC p.Q64H TMEM5_ENST00000261234.6_Missense_Mutation_p.Q324H NM_001278237.1 NP_001265166.1 Q9Y2B1 TMEM5_HUMAN transmembrane protein 5 324 integral to plasma membrane breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1) 15 Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(9;0.0985) GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175) CCTTGCTTCAGAGTGATCTCA 0.428000 27 60 0 0 0.027356 0 0 TMEM135 65084 broad.mit.edu 37 11 87016978 87016978 + Splice_Site SNP A A G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr11:87016978A>G ENST00000340353.7 + 8 835 c.632_splice c.e8-1 p.I211_splice TMEM135_ENST00000532959.1_Splice_Site_p.I104_splice|TMEM135_ENST00000535167.1_Splice_Site_p.I94_splice|TMEM135_ENST00000305494.5_Splice_Site_p.I233_splice NM_001168724.1 NP_001162195.1 Q86UB9 TM135_HUMAN transmembrane protein 135 233 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) TCAATTTCAGATGCAAACATG 0.284000 18 25 0 0 0.043863 0 0 CD248 57124 broad.mit.edu 37 11 66083847 66083847 + Missense_Mutation SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr11:66083847C>T ENST00000311330.3 - 1 668 c.652G>A c.(652-654)Gag>Aag p.E218K RP11-867G23.13_ENST00000534065.1_RNA NM_020404.2 NP_065137.1 Q9HCU0 CD248_HUMAN CD248 molecule, endosialin 218 Sushi. integral to membrane|proteinaceous extracellular matrix calcium ion binding|sugar binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2) 26 Cefalotin(DB00456) ACACCTCCCTCAGGCTGCTTC 0.667000 24 20 0 0 0.021523 0 0 SEL1L 6400 broad.mit.edu 37 14 81965994 81965994 + Missense_Mutation SNP G G T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr14:81965994G>T ENST00000336735.4 - 7 906 c.790C>A c.(790-792)Ctg>Atg p.L264M SEL1L_ENST00000555824.1_Missense_Mutation_p.L264M NM_005065.5 NP_005056.3 Q9UBV2 SE1L1_HUMAN sel-1 suppressor of lin-12-like (C. elegans) 264 Interaction with ERLEC1, OS9 and SYVN1. Notch signaling pathway endoplasmic reticulum membrane|integral to membrane protein binding breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3) 28 BRCA - Breast invasive adenocarcinoma(234;0.0299) GAGGCATACAGAAAGCCAAGA 0.338000 8 34 1.76689e-08 2.0346e-08 0.006214 1 0 PLEKHM2 23207 broad.mit.edu 37 1 16046240 16046240 + Silent SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr1:16046240C>T ENST00000375799.3 + 6 704 c.477C>T c.(475-477)taC>taT p.Y159Y PLEKHM2_ENST00000375793.2_Silent_p.Y159Y NM_015164.2 NP_055979.2 Q8IWE5 PKHM2_HUMAN pleckstrin homology domain containing, family M (with RUN domain) member 2 159 Interaction with KIF5B. Golgi organization cytoplasm kinesin binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1) 12 Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657) ATGCCCCTTACCTAGACCTGG 0.607000 27 20 0 0 0.045705 0 0 LRP2 4036 broad.mit.edu 37 2 169989168 169989168 + Silent SNP A A G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr2:169989168A>G ENST00000263816.3 - 77 13929 c.13644T>C c.(13642-13644)gaT>gaC p.D4548D NM_004525.2 NP_004516.2 P98164 LRP2_HUMAN low density lipoprotein receptor-related protein 2 4548 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) AATTCTTATTATCCACATTTT 0.383000 25 52 0 0 0.024334 0 0 TEKT5 146279 broad.mit.edu 37 16 10788556 10788556 + Missense_Mutation SNP C C T rs16957557 byFrequency TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr16:10788556C>T ENST00000283025.2 - 1 246 c.175G>A c.(175-177)Gcc>Acc p.A59T NM_144674.1 NP_653275.1 Q96M29 TEKT5_HUMAN tektin 5 59 A -> T (in dbSNP:rs16957557). microtubule cytoskeleton organization cilium axoneme|flagellar axoneme|microtubule breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4) 34 TGGACGTTGGCTATCTTGTAG 0.607000 3 50 0 0 0.004672 0 0 TTN 7273 broad.mit.edu 37 2 179534354 179534354 + Missense_Mutation SNP G G A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr2:179534354G>A ENST00000589042.1 - 158 35659 c.35435C>T c.(35434-35436)gCt>gTt p.A11812V TTN_ENST00000342992.6_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 9935 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) TTTCAGAACAGCTTCACGAAC 0.333000 51 96 0 0 0.014410 0 0 COL16A1 1307 broad.mit.edu 37 1 32140630 32140630 + Missense_Mutation SNP G G C TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr1:32140630G>C ENST00000373672.3 - 44 3353 c.2837C>G c.(2836-2838)cCa>cGa p.P946R COL16A1_ENST00000271069.6_Intron NM_001856.3 NP_001847.3 Q07092 COGA1_HUMAN collagen, type XVI, alpha 1 946 Nonhelical region 4 (NC4). 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) CTGTTCAATTGGTAAGGATCC 0.542000 7 11 0 0 0.038147 0 0 TEP1 7011 broad.mit.edu 37 14 20837659 20837659 + Silent SNP G G A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr14:20837659G>A ENST00000262715.5 - 53 7540 c.7500C>T c.(7498-7500)acC>acT p.T2500T TEP1_ENST00000556935.1_Silent_p.T2392T NM_007110.4 NP_009041.2 Q99973 TEP1_HUMAN telomerase-associated protein 1 2500 telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 96 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) TGTTACCTGTGGTCCATTCTC 0.488000 5 73 0 0 0.021553 0 0 OR7E24 26648 broad.mit.edu 37 19 9361989 9361989 + Silent SNP T T G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr19:9361989T>G ENST00000456448.1 + 1 384 c.270T>G c.(268-270)ggT>ggG p.G90G NM_001079935.1 NP_001073404.1 Q6IFN5 O7E24_HUMAN olfactory receptor, family 7, subfamily E, member 24 90 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2) 16 CTGACATCGGTTTCACCTCCA 0.532000 23 27 0 0 0.014323 0 0 TTC40 54777 broad.mit.edu 37 10 134648830 134648830 + Missense_Mutation SNP T T C TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr10:134648830T>C ENST00000368586.5 - 47 6822 c.6722A>G c.(6721-6723)gAc>gGc p.D2241G TTC40_ENST00000263170.5_Missense_Mutation_p.D402G NM_001200049.2 NP_001186978.2 Q8IYW2 CJ092_HUMAN tetratricopeptide repeat domain 40 402 breast(1)|endometrium(5)|lung(19)|urinary_tract(3) 28 CAGGGCCATGTCCTCACTGTA 0.657000 9 39 0 0 0.006214 0 0 KIAA0196 9897 broad.mit.edu 37 8 126061386 126061386 + Silent SNP G G A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr8:126061386G>A ENST00000318410.7 - 19 2590 c.2241C>T c.(2239-2241)acC>acT p.T747T KIAA0196_ENST00000517845.1_Silent_p.T599T NM_014846.3 NP_055661.3 Q12768 STRUM_HUMAN KIAA0196 747 cell death WASH complex NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 42 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) ATCCATCCATGGTCGCTCCCA 0.403000 16 39 0 0 0.024245 0 0 CIT 11113 broad.mit.edu 37 12 120128169 120128169 + Missense_Mutation SNP G G T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr12:120128169G>T ENST00000392521.2 - 47 6028 c.5973C>A c.(5971-5973)caC>caA p.H1991Q CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Missense_Mutation_p.H1949Q NM_001206999.1 NP_001193928.1 O14578 CTRO_HUMAN citron (rho-interacting, serine/threonine kinase 21) 1949 intracellular signal transduction ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 86 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) GCTCTCGCGGGTGGCTGGGGC 0.716000 6 15 0.0215528 0.0223365 0.021553 1 0 CACNB1 782 broad.mit.edu 37 17 37347836 37347836 + Missense_Mutation SNP T T C TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr17:37347836T>C ENST00000394303.3 - 3 389 c.182A>G c.(181-183)gAg>gGg p.E61G CACNB1_ENST00000394310.3_Missense_Mutation_p.E61G|CACNB1_ENST00000582877.1_5'UTR|CACNB1_ENST00000344140.5_Missense_Mutation_p.E61G NM_000723.4 NP_000714.3 Q02641 CACB1_HUMAN calcium channel, voltage-dependent, beta 1 subunit 61 axon guidance voltage-gated calcium channel complex breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1) 16 Ibutilide(DB00308)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Verapamil(DB00661) GGTGTAGGACTCCGCTGAGCC 0.597000 11 23 0 0 0.010729 0 0 DST 667 broad.mit.edu 37 6 56716396 56716396 + Missense_Mutation SNP C C A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr6:56716396C>A ENST00000370754.5 - 4 423 c.424G>T c.(424-426)Ggg>Tgg p.G142W RP11-472M19.2_ENST00000426453.1_RNA Q03001 DYST_HUMAN dystonin 0 Actin-binding. 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) GACGCGTTCCCGGAACTCTAC 0.502000 OREG0017515 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 14 3.86212e-05 4.19316e-05 0.008291 1 0 ZNF737 100129842 broad.mit.edu 37 19 20728176 20728176 + Missense_Mutation SNP A A T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr19:20728176A>T ENST00000427401.4 - 4 927 c.833T>A c.(832-834)aTt>aAt p.I278N NM_001159293.1 NP_001152765.1 C9JHM3 C9JHM3_HUMAN zinc finger protein 737 278 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 TCCAGTATGAATTATCTTATG 0.408000 14 18 0 0 0.028581 0 0 SLC33A1 9197 broad.mit.edu 37 3 155551699 155551699 + Silent SNP T T C TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr3:155551699T>C ENST00000392845.2 - 3 1475 c.1095A>G c.(1093-1095)aaA>aaG p.K365K SLC33A1_ENST00000359479.3_Silent_p.K365K NM_004733.3 NP_004724.1 O00400 ACATN_HUMAN solute carrier family 33 (acetyl-CoA transporter), member 1 365 cell death|transmembrane transport endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction acetyl-CoA transporter activity endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1) 22 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) CTGCAGTGTATTTGCTGATAA 0.388000 16 38 0 0 0.043863 0 0 UNC45A 55898 broad.mit.edu 37 15 91479661 91479661 + Missense_Mutation SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr15:91479661C>T ENST00000394275.2 + 7 1187 c.352C>T c.(352-354)Cgg>Tgg p.R118W UNC45A_ENST00000418476.2_Missense_Mutation_p.R133W|UNC45A_ENST00000553671.2_3'UTR NM_001039675.1 NP_001034764.1 Q9H3U1 UN45A_HUMAN unc-45 homolog A (C. elegans) 133 cell differentiation|muscle organ development nucleus|perinuclear region of cytoplasm protein binding p.R133W(1) 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) GGAGGCCTTGCGGAACATCGG 0.582000 31 36 0 0 0.041601 0 0 CD248 57124 broad.mit.edu 37 11 66083463 66083463 + Missense_Mutation SNP C C G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr11:66083463C>G ENST00000311330.3 - 1 1052 c.1036G>C c.(1036-1038)Gat>Cat p.D346H RP11-867G23.13_ENST00000534065.1_RNA NM_020404.2 NP_065137.1 Q9HCU0 CD248_HUMAN CD248 molecule, endosialin 346 EGF-like; calcium-binding (Potential). integral to membrane|proteinaceous extracellular matrix calcium ion binding|sugar binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2) 26 Cefalotin(DB00456) CTGATGCCATCAGCCTCCAGC 0.577000 29 33 0 0 0.041601 0 0 HSPA8 3312 broad.mit.edu 37 11 122930647 122930647 + Silent SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr11:122930647C>T ENST00000534624.1 - 5 930 c.654G>A c.(652-654)gaG>gaA p.E218E HSPA8_ENST00000534319.1_5'UTR|HSPA8_ENST00000532636.1_Silent_p.E218E|HSPA8_ENST00000453788.2_Silent_p.E218E|HSPA8_ENST00000533540.1_Intron|HSPA8_ENST00000227378.3_Silent_p.E218E|HSPA8_ENST00000526110.1_Silent_p.E199E|HSPA8_ENST00000526862.1_Intron NM_006597.4 NP_006588.1 P11142 HSP7C_HUMAN heat shock 70kDa protein 8 218 Interaction with BAG1. cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex ATP binding|ATPase activity, coupled|protein binding breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1) 36 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279) TAGACTTGACCTCAAAGATTC 0.453000 5 32 0 0 0.014758 0 0 CEP250 11190 broad.mit.edu 37 20 34090746 34090746 + Silent SNP C C A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr20:34090746C>A ENST00000397527.1 + 30 5269 c.4549C>A c.(4549-4551)Cgg>Agg p.R1517R CEP250_ENST00000342580.4_Silent_p.R1461R NM_007186.3 NP_009117.2 Q9BV73 CP250_HUMAN centrosomal protein 250kDa 1517 Gln/Glu-rich. centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex protein C-terminus binding|protein kinase binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Lung NSC(9;0.00156)|all_lung(11;0.00243) BRCA - Breast invasive adenocarcinoma(18;0.0106) CGAGAAGGATCGGGAGACTCA 0.512000 14 16 0.000151284 0.000161938 0.016723 1 0 DNAAF2 55172 broad.mit.edu 37 14 50100985 50100985 + Missense_Mutation SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr14:50100985C>T ENST00000298292.8 - 1 963 c.883G>A c.(883-885)Gcc>Acc p.A295T DNAAF2_ENST00000406043.3_Missense_Mutation_p.A295T NM_018139.2 NP_060609.2 Q9NVR5 KTU_HUMAN dynein, axonemal, assembly factor 2 295 axonemal dynein complex assembly|ciliary cell motility|flagellar cell motility cytoplasm kidney(1)|lung(4) 5 GCCTGCTCGGCCGAGCGCAAC 0.657000 11 25 0 0 0.013537 0 0 HAPLN4 404037 broad.mit.edu 37 19 19369367 19369367 + Missense_Mutation SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr19:19369367C>T ENST00000291481.7 - 4 845 c.782G>A c.(781-783)cGc>cAc p.R261H AC138430.4_ENST00000586064.2_RNA NM_023002.2 NP_075378.1 Q86UW8 HPLN4_HUMAN hyaluronan and proteoglycan link protein 4 261 Link 1. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1) 16 Epithelial(12;0.00575) GGCGTCGTAGCGTTCCTCGGC 0.687000 20 24 0 0 0.008871 0 0 FBXO21 23014 broad.mit.edu 37 12 117615346 117615346 + Missense_Mutation SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr12:117615346C>T ENST00000427718.2 - 4 645 c.571G>A c.(571-573)Gac>Aac p.D191N FBXO21_ENST00000330622.5_Missense_Mutation_p.D191N|FBXO21_ENST00000549689.1_5'UTR NM_015002.2|NM_033624.2 NP_055817.1|NP_296373.1 O94952 FBX21_HUMAN F-box protein 21 191 ubiquitin-dependent protein catabolic process ubiquitin ligase complex ubiquitin-protein ligase activity breast(4)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|pancreas(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 29 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0291) GACTCATAGTCATCTGGCTGC 0.378000 47 50 0 0 0.014410 0 0 ADCY1 107 broad.mit.edu 37 7 45697403 45697403 + Missense_Mutation SNP T T A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr7:45697403T>A ENST00000297323.7 + 6 1248 c.1226T>A c.(1225-1227)cTg>cAg p.L409Q ADCY1_ENST00000432715.1_Missense_Mutation_p.L184Q NM_021116.2 NP_066939.1 Q08828 ADCY1_HUMAN adenylate cyclase 1 (brain) 409 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) TGTGGTGTCCTGGGCTTGCGC 0.602000 10 18 0 0 0.008291 0 0 DPYS 1807 broad.mit.edu 37 8 105459661 105459661 + Missense_Mutation SNP T T C TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr8:105459661T>C ENST00000351513.2 - 3 626 c.494A>G c.(493-495)aAa>aGa p.K165R NM_001385.2 NP_001376.1 Q14117 DPYS_HUMAN dihydropyrimidinase 165 protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process cytosol dihydropyrimidinase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229) GTACAGATCTTTATAGGCCAT 0.413000 22 70 0 0 0.018920 0 0 LHX5 64211 broad.mit.edu 37 12 113906037 113906037 + Silent SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr12:113906037C>T ENST00000261731.3 - 3 1143 c.570G>A c.(568-570)aaG>aaA p.K190K NM_022363.2 NP_071758.1 Q9H2C1 LHX5_HUMAN LIM homeobox 5 190 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1) 10 TCTCCAGCTGCTTGGCCTTGA 0.672000 15 24 0 0 0.038395 0 0 OTOP2 92736 broad.mit.edu 37 17 72929559 72929559 + Silent SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr17:72929559C>T ENST00000331427.4 + 7 1700 c.1608C>T c.(1606-1608)atC>atT p.I536I OTOP2_ENST00000580223.1_Silent_p.I536I NM_178160.2 NP_835454.1 Q7RTS6 OTOP2_HUMAN otopetrin 2 536 integral to membrane breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2) 39 all_lung(278;0.172)|Lung NSC(278;0.207) GGGCGGTCATCGTCAACATCT 0.592000 15 77 0 0 0.028581 0 0 CYP8B1 1582 broad.mit.edu 37 3 42917176 42917176 + Missense_Mutation SNP G G T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr3:42917176G>T ENST00000316161.4 - 1 457 c.133C>A c.(133-135)Cat>Aat p.H45N ACKR2_ENST00000471537.1_Intron|KRBOX1_ENST00000426937.1_Intron|CYP8B1_ENST00000437102.1_Missense_Mutation_p.H45N NM_004391.2 NP_004382.2 Q9UNU6 CP8B1_HUMAN cytochrome P450, family 8, subfamily B, polypeptide 1 45 bile acid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome 7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5) 23 KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249) GCCATGGCATGGCCAAGCCAG 0.577000 28 25 7.26314e-15 8.67014e-15 0.034045 1 0 ADAM32 203102 broad.mit.edu 37 8 39022614 39022614 + Missense_Mutation SNP G G T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr8:39022614G>T ENST00000379907.4 + 9 859 c.732G>T c.(730-732)aaG>aaT p.K244N ADAM32_ENST00000519315.1_Missense_Mutation_p.K244N|ADAM32_ENST00000437682.2_Missense_Mutation_p.K251N NM_145004.5 NP_659441.3 Q8TC27 ADA32_HUMAN ADAM metallopeptidase domain 32 244 Peptidase M12B. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2) 31 all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503) LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146) ATGAAAATAAGATTTCTACAG 0.303000 22 32 7.87624e-14 9.35304e-14 0.016522 1 0 ZNF804A 91752 broad.mit.edu 37 2 185731223 185731223 + Missense_Mutation SNP A A G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr2:185731223A>G ENST00000302277.6 + 2 833 c.239A>G c.(238-240)gAc>gGc p.D80G NM_194250.1 NP_919226.1 Q7Z570 Z804A_HUMAN zinc finger protein 804A 80 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 AATTCATATGACCATGCTCAC 0.358000 15 74 0 0 0.033300 0 0 DNAAF2 55172 broad.mit.edu 37 14 50100984 50100984 + Missense_Mutation SNP G G T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr14:50100984G>T ENST00000298292.8 - 1 964 c.884C>A c.(883-885)gCc>gAc p.A295D DNAAF2_ENST00000406043.3_Missense_Mutation_p.A295D NM_018139.2 NP_060609.2 Q9NVR5 KTU_HUMAN dynein, axonemal, assembly factor 2 295 axonemal dynein complex assembly|ciliary cell motility|flagellar cell motility cytoplasm kidney(1)|lung(4) 5 CGCCTGCTCGGCCGAGCGCAA 0.652000 10 26 3.07112e-06 3.3991e-06 0.010729 1 0 ADPGK 83440 broad.mit.edu 37 15 73044806 73044806 + Missense_Mutation SNP C C G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr15:73044806C>G ENST00000311669.8 - 7 1460 c.1367G>C c.(1366-1368)aGa>aCa p.R456T ADPGK_ENST00000456471.2_Missense_Mutation_p.R182T NM_031284.4 NP_112574.3 Q9BRR6 ADPGK_HUMAN ADP-dependent glucokinase 457 ADPK. glycolysis extracellular region ADP-specific glucokinase activity|metal ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1) 7 TATTCCCTCTCTGTGCCATTC 0.493000 41 116 0 0 0.014410 0 0 OR2M3 127062 broad.mit.edu 37 1 248367254 248367254 + Silent SNP G G A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr1:248367254G>A ENST00000456743.1 + 1 923 c.885G>A c.(883-885)aaG>aaA p.K295K NM_001004689.1 NP_001004689.1 Q8NG83 OR2M3_HUMAN olfactory receptor, family 2, subfamily M, member 3 295 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) TCCGCAACAAGGAGGTGACCA 0.458000 30 83 0 0 0.012213 0 0 PDCD11 22984 broad.mit.edu 37 10 105174033 105174033 + Silent SNP T T C TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr10:105174033T>C ENST00000369797.3 + 11 1411 c.1317T>C c.(1315-1317)atT>atC p.I439I NM_014976.1 NP_055791.1 Q14690 RRP5_HUMAN programmed cell death 11 439 mRNA processing|rRNA processing nucleolus RNA binding|transcription factor binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208) CTAGGTCTATTATTGAAGCTC 0.438000 7 19 0 0 0.004482 0 0 NID1 4811 broad.mit.edu 37 1 236205526 236205526 + Silent SNP G G A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr1:236205526G>A ENST00000264187.6 - 4 901 c.819C>T c.(817-819)ggC>ggT p.G273G NID1_ENST00000366595.3_Silent_p.G273G NM_002508.2 NP_002499.2 P14543 NID1_HUMAN nidogen 1 273 cell-matrix adhesion basement membrane calcium ion binding breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1) 66 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Becaplermin(DB00102)|Urokinase(DB00013) CAGGCACCACGCCATTGGTGG 0.557000 59 152 0 0 0.014410 0 0 SLC40A1 30061 broad.mit.edu 37 2 190428622 190428622 + Missense_Mutation SNP G G A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr2:190428622G>A ENST00000261024.2 - 7 1516 c.1090C>T c.(1090-1092)Cgt>Tgt p.R364C NM_014585.5 NP_055400.1 Q9NP59 S40A1_HUMAN solute carrier family 40 (iron-regulated transporter), member 1 364 anatomical structure morphogenesis|cellular iron ion homeostasis cytoplasm|integral to plasma membrane iron ion transmembrane transporter activity|protein binding endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491) CATTTTCGACGTAGCCAAGTA 0.468000 18 111 0 0 0.033300 0 0 TMCC2 9911 broad.mit.edu 37 1 205210771 205210771 + Missense_Mutation SNP G G T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr1:205210771G>T ENST00000358024.3 + 2 735 c.346G>T c.(346-348)Gac>Tac p.D116Y TMCC2_ENST00000545499.1_Missense_Mutation_p.D38Y|TMCC2_ENST00000495538.1_3'UTR NM_014858.3 NP_055673.2 O75069 TMCC2_HUMAN transmembrane and coiled-coil domain family 2 116 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) GGGTATGTCCGACCATGACTC 0.637000 6 38 0.00116845 0.00122768 0.021553 1 0 CHAF1A 10036 broad.mit.edu 37 19 4432045 4432045 + Nonsense_Mutation SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr19:4432045C>T ENST00000301280.5 + 12 2145 c.2044C>T c.(2044-2046)Caa>Taa p.Q682* CHAF1A_ENST00000587368.1_3'UTR NM_005483.2 NP_005474.2 Q13111 CAF1A_HUMAN chromatin assembly factor 1, subunit A (p150) 682 Binds to p60. 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|WINAC complex chromatin binding|chromo shadow domain binding|unfolded protein binding breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1) 27 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18) TCGCGTCCTGCAACCTGTGAA 0.602000 Chromatin Structure 25 56 0 0 0.030593 0 0 CSMD3 114788 broad.mit.edu 37 8 113585824 113585824 + Silent SNP G G A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr8:113585824G>A ENST00000297405.5 - 24 4192 c.3948C>T c.(3946-3948)cgC>cgT p.R1316R CSMD3_ENST00000343508.3_Silent_p.R1276R|CSMD3_ENST00000455883.2_Silent_p.R1212R|CSMD3_ENST00000352409.3_Silent_p.R1316R NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 1316 CUB 7. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 GTGTCAGTCCGCGCATAGATG 0.353000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 27 88 0 0 0.013726 0 0 C10orf12 26148 broad.mit.edu 37 10 98744407 98744407 + Missense_Mutation SNP G G A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr10:98744407G>A ENST00000286067.2 + 1 3367 c.3260G>A c.(3259-3261)aGt>aAt p.S1087N NM_015652.2 NP_056467.2 Q8N655 CJ012_HUMAN chromosome 10 open reading frame 12 1087 NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4) 45 Colorectal(252;0.172) Epithelial(162;6.35e-09)|all cancers(201;3.21e-07) GAAGTTCAGAGTAAACGCAAG 0.488000 20 24 0 0 0.043863 0 0 FAM214B 80256 broad.mit.edu 37 9 35107864 35107864 + Nonsense_Mutation SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr9:35107864C>T ENST00000378561.1 - 2 3463 c.408G>A c.(406-408)tgG>tgA p.W136* FAM214B_ENST00000605244.1_Nonsense_Mutation_p.W136*|FAM214B_ENST00000603301.1_Nonsense_Mutation_p.W136*|FAM214B_ENST00000378566.1_Intron|FAM214B_ENST00000378557.1_Nonsense_Mutation_p.W136*|FAM214B_ENST00000322813.5_Nonsense_Mutation_p.W136*|FAM214B_ENST00000488109.2_Nonsense_Mutation_p.W136*|FAM214B_ENST00000378554.2_Nonsense_Mutation_p.W136* Q7L5A3 K1539_HUMAN family with sequence similarity 214, member B 136 nucleus CCCCCGAAGTCCAAGATGAGG 0.617000 16 41 0 0 0.028581 0 0 CD248 57124 broad.mit.edu 37 11 66083246 66083246 + Missense_Mutation SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr11:66083246C>T ENST00000311330.3 - 1 1269 c.1253G>A c.(1252-1254)aGa>aAa p.R418K RP11-867G23.13_ENST00000534065.1_RNA NM_020404.2 NP_065137.1 Q9HCU0 CD248_HUMAN CD248 molecule, endosialin 418 Pro-rich. integral to membrane|proteinaceous extracellular matrix calcium ion binding|sugar binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2) 26 Cefalotin(DB00456) CTGTGGCTCTCTGTCCTCTGG 0.652000 28 107 0 0 0.014410 0 0 PRSS48 345062 broad.mit.edu 37 4 152201007 152201007 + Missense_Mutation SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr4:152201007C>T ENST00000455694.2 + 2 114 c.112C>T c.(112-114)Cgc>Tgc p.R38C PRSS48_ENST00000441586.2_Intron|SH3D19_ENST00000604030.1_Intron NM_183375.2 NP_899231.2 Q7RTY5 PRS48_HUMAN protease, serine, 48 38 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1) 8 TGCTGCAGGGCGCTGGCCTTG 0.527000 28 30 0 0 0.027356 0 0 CD248 57124 broad.mit.edu 37 11 66083379 66083379 + Missense_Mutation SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr11:66083379C>T ENST00000311330.3 - 1 1136 c.1120G>A c.(1120-1122)Gat>Aat p.D374N RP11-867G23.13_ENST00000534065.1_RNA NM_020404.2 NP_065137.1 Q9HCU0 CD248_HUMAN CD248 molecule, endosialin 374 integral to membrane|proteinaceous extracellular matrix calcium ion binding|sugar binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2) 26 Cefalotin(DB00456) TCTTCCTCATCCTCCCCGTCA 0.622000 41 55 0 0 0.036044 0 0 LOC101927209 101927209 broad.mit.edu 37 1 142713447 142713447 + RNA SNP T T C TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr1:142713447T>C ENST00000369381.2 - 0 1158 AGAACTCATTTTTACTTGTAC 0.323000 7 45 0 0 0.004482 0 0 CYC1 1537 broad.mit.edu 37 8 145151332 145151332 + Silent SNP T T C TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr8:145151332T>C ENST00000318911.4 + 4 619 c.546T>C c.(544-546)agT>agC p.S182S NM_001916.3 NP_001907.2 P08574 CY1_HUMAN cytochrome c-1 182 Cytochrome c. respiratory electron transport chain|transport cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2) 15 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;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) ACCCCAACAGTGAGGCTGCTC 0.587000 OREG0019052 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 27 56 0 0 0.021523 0 0 FGA 2243 broad.mit.edu 37 4 155510666 155510666 + Missense_Mutation SNP G G A rs121909606 TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr4:155510666G>A ENST00000302053.3 - 2 181 c.103C>T c.(103-105)Cgt>Tgt p.R35C FGA_ENST00000403106.3_Missense_Mutation_p.R35C NM_000508.3 NP_000499.1 P02671 FIBA_HUMAN fibrinogen alpha chain 35 Cleavage; by thrombin; to release fibrinopeptide A. R -> C.|R -> H. platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen eukaryotic cell surface binding|protein binding, bridging|receptor binding p.R35C(1) NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 73 all_hematologic(180;0.215) Renal(120;0.0458) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031) CTTGGGCCACGCACGCCTCCT 0.493000 42 19 0 0 0.045515 0 0 PCDHA3 56145 broad.mit.edu 37 5 140182672 140182672 + Missense_Mutation SNP G G T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr5:140182672G>T ENST00000522353.2 + 1 1890 c.1890G>T c.(1888-1890)gaG>gaT p.E630D PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.E630D|PCDHA2_ENST00000520672.2_Intron NM_018906.2 NP_061729.1 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) ACACGGGAGAGATCAGCACGA 0.657000 22 56 2.89027e-11 3.37939e-11 0.014323 1 0 ANKFY1 51479 broad.mit.edu 37 17 4098291 4098291 + Missense_Mutation SNP C C T rs147745463 by1000genomes TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr17:4098291C>T ENST00000341657.4 - 10 1389 c.1354G>A c.(1354-1356)Gca>Aca p.A452T ANKFY1_ENST00000433651.1_Missense_Mutation_p.A452T|ANKFY1_ENST00000570535.1_Missense_Mutation_p.A494T|ANKFY1_ENST00000574367.1_Missense_Mutation_p.A452T NM_016376.3 NP_057460.3 Q9P2R3 ANFY1_HUMAN ankyrin repeat and FYVE domain containing 1 452 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 GTGTCAGGTGCGTCTGTGTGG 0.572000 14 31 0 0 0.038395 0 0 KLHL10 317719 broad.mit.edu 37 17 39994252 39994252 + Missense_Mutation SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr17:39994252C>T ENST00000293303.4 + 1 221 c.68C>T c.(67-69)gCg>gTg p.A23V KLHL10_ENST00000485613.1_3'UTR NM_152467.3 NP_689680.2 Q6JEL2 KLH10_HUMAN kelch-like family member 10 23 cytoplasm p.A23V(1) 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) AAGATGAGTGCGATGGCCTGT 0.562000 38 73 0 0 0.023175 0 0 ICAM3 3385 broad.mit.edu 37 19 10446518 10446518 + Missense_Mutation SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr19:10446518C>T ENST00000589261.1 - 3 779 c.247G>A c.(247-249)Gag>Aag p.E83K ICAM3_ENST00000160262.5_Missense_Mutation_p.E160K P32942 ICAM3_HUMAN intercellular adhesion molecule 3 160 Ig-like C2-type 1. cell-cell adhesion|regulation of immune response integral to plasma membrane integrin binding central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2) 13 OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05) CGGCTCAGCTCCTCCTCCCAG 0.677000 3 10 0 0 0.014758 0 0 SLC30A4 7782 broad.mit.edu 37 15 45814465 45814465 + Missense_Mutation SNP C C G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr15:45814465C>G ENST00000261867.4 - 2 402 c.88G>C c.(88-90)Gac>Cac p.D30H HMGN2P46_ENST00000409454.1_RNA NM_013309.4 NP_037441.2 O14863 ZNT4_HUMAN solute carrier family 30 (zinc transporter), member 4 30 Asp-rich (acidic). D -> E (in Ref. 1; AAB82561). regulation of sequestering of zinc ion|response to toxin endosome membrane|integral to membrane|late endosome zinc ion transmembrane transporter activity endometrium(3)|large_intestine(2)|lung(8)|prostate(1)|stomach(1) 15 Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027) all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06) TCCGAGAAGTCAAAGGCGCTG 0.572000 23 33 0 0 0.021523 0 0 GPR115 221393 broad.mit.edu 37 6 47682615 47682615 + Missense_Mutation SNP G G C TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr6:47682615G>C ENST00000283303.2 + 6 1892 c.1634G>C c.(1633-1635)aGa>aCa p.R545T GPR115_ENST00000327753.3_Missense_Mutation_p.R545T|GPR115_ENST00000371220.1_Missense_Mutation_p.R602T NM_153838.3 NP_722580.3 Q8IZF3 GP115_HUMAN G protein-coupled receptor 115 545 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 52 GGCTACATGAGACCTGAGGCC 0.483000 40 166 0 0 0.023175 0 0 CDH2 1000 broad.mit.edu 37 18 25589801 25589801 + Silent SNP C C A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr18:25589801C>A ENST00000269141.3 - 5 1005 c.582G>T c.(580-582)cgG>cgT p.R194R CDH2_ENST00000399380.3_Silent_p.R163R NM_001792.3 NP_001783.2 P19022 CADH2_HUMAN cadherin 2, type 1, N-cadherin (neuronal) 194 Cadherin 1. adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation catenin complex|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 TTACACTGTACCGCAGTGAAA 0.483000 28 44 1.77063e-15 2.136e-15 0.027356 1 0 IL20RB 53833 broad.mit.edu 37 3 136708366 136708366 + Missense_Mutation SNP G G C TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr3:136708366G>C ENST00000329582.4 + 4 739 c.490G>C c.(490-492)Gag>Cag p.E164Q IL20RB_ENST00000309741.5_Missense_Mutation_p.E117Q NM_144717.3 NP_653318.2 Q6UXL0 I20RB_HUMAN interleukin 20 receptor beta 164 Fibronectin type-III 2. integral to membrane receptor activity kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 14 GCCCCAGTTTGAGTTCCTTGT 0.567000 12 39 0 0 0.013537 0 0 MICU1 10367 broad.mit.edu 37 10 74234891 74234891 + Silent SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr10:74234891C>T ENST00000398761.4 - 10 1038 c.906G>A c.(904-906)caG>caA p.Q302Q MICU1_ENST00000401998.3_Silent_p.Q300Q|MICU1_ENST00000361114.5_Silent_p.Q300Q|MICU1_ENST00000398763.4_Silent_p.Q102Q|MICU1_ENST00000418483.2_Silent_p.Q102Q Q9BPX6 MICU1_HUMAN mitochondrial calcium uptake 1 300 calcium ion import|defense response|elevation of mitochondrial calcium ion concentration integral to membrane|mitochondrial inner membrane calcium ion binding|protein binding GCAGTTTACGCTGAAATTCGA 0.468000 4 10 0 0 0.009096 0 0 PCNT 5116 broad.mit.edu 37 21 47841931 47841931 + Missense_Mutation SNP C C G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr21:47841931C>G ENST00000359568.5 + 32 7179 c.7072C>G c.(7072-7074)Cct>Gct p.P2358A PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 2358 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) GTCAGGAGGCCCTGAGGCTCA 0.612000 22 49 0 0 0.018920 0 0 POM121L9P 29774 broad.mit.edu 37 22 24659591 24659591 + RNA SNP A A G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr22:24659591A>G ENST00000414583.2 + 0 3116 NR_003714.1 ACTCACTGACATCGAAGGCTG 0.632000 4 24 0 0 0.009096 0 0 KLHL14 57565 broad.mit.edu 37 18 30350122 30350122 + Missense_Mutation SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr18:30350122C>T ENST00000359358.4 - 2 871 c.433G>A c.(433-435)Gcc>Acc p.A145T AC012123.1_ENST00000426194.1_Intron|KLHL14_ENST00000358095.4_Missense_Mutation_p.A145T NM_020805.1 NP_065856.1 Q9P2G3 KLH14_HUMAN kelch-like family member 14 145 BTB. cytosol|endoplasmic reticulum membrane breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2) 31 GTCACGTTGGCCGTGTAGAGG 0.637000 38 130 0 0 0.025465 0 0 PARP11 57097 broad.mit.edu 37 12 3921420 3921420 + Nonsense_Mutation SNP G G A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr12:3921420G>A ENST00000228820.4 - 8 1030 c.886C>T c.(886-888)Cga>Tga p.R296* PARP11_ENST00000427057.2_Nonsense_Mutation_p.R215*|PARP11_ENST00000476985.1_Intron|PARP11_ENST00000447133.3_Nonsense_Mutation_p.R215*|PARP11_ENST00000397096.2_Intron NM_020367.4 NP_065100.2 Q9NR21 PAR11_HUMAN poly (ADP-ribose) polymerase family, member 11 289 PARP catalytic. NAD+ ADP-ribosyltransferase activity p.R289*(1) central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1) 17 all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264) GAAGGAGGTCGCATGTATTTG 0.413000 39 82 0 0 0.027894 0 0 KIAA1598 57698 broad.mit.edu 37 10 118713583 118713583 + Missense_Mutation SNP C C A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr10:118713583C>A ENST00000355371.4 - 5 903 c.406G>T c.(406-408)Gtc>Ttc p.V136F KIAA1598_ENST00000260777.10_Missense_Mutation_p.V136F|KIAA1598_ENST00000497044.1_5'UTR|KIAA1598_ENST00000392903.2_Missense_Mutation_p.V136F|KIAA1598_ENST00000392901.4_Missense_Mutation_p.V76F NM_001127211.2|NM_001258298.1|NM_001258299.1 NP_001120683.1|NP_001245227.1|NP_001245228.1 A0MZ66 SHOT1_HUMAN KIAA1598 136 axon guidance axon endometrium(1)|kidney(1)|large_intestine(5)|lung(3) 10 all cancers(201;0.00494) TGTACTGAGACACAAGTCTCG 0.418000 19 26 6.44725e-10 7.49986e-10 0.014323 1 0 KIAA0947 23379 broad.mit.edu 37 5 5461761 5461761 + Missense_Mutation SNP A A G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr5:5461761A>G ENST00000296564.7 + 13 2536 c.2314A>G c.(2314-2316)Ata>Gta p.I772V NM_015325.2 NP_056140.1 Q9Y2F5 K0947_HUMAN KIAA0947 772 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1) 35 CACATCATTAATAGGTTCTCA 0.388000 9 22 0 0 0.010729 0 0 DDX49 54555 broad.mit.edu 37 19 19035702 19035702 + Missense_Mutation SNP T T A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr19:19035702T>A ENST00000438170.2 + 10 1061 c.649T>A c.(649-651)Tcc>Acc p.S217T DDX49_ENST00000247003.4_Missense_Mutation_p.I314N|AC002985.3_ENST00000596918.1_Intron|DDX49_ENST00000599156.1_3'UTR Q9Y6V7 DDX49_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 49 0 ATP binding|ATP-dependent helicase activity|RNA binding breast(1)|endometrium(6)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 18 Epithelial(12;0.0289) GGCCTGGACATCCCTACGGTA 0.637000 23 27 0 0 0.018920 0 0 KIF5C 3800 broad.mit.edu 37 2 149847689 149847689 + Missense_Mutation SNP G G T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr2:149847689G>T ENST00000435030.1 + 16 2250 c.1882G>T c.(1882-1884)Gcc>Tcc p.A628S KIF5C_ENST00000397413.1_Missense_Mutation_p.A396S|KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000414838.2_Missense_Mutation_p.A533S O60282 KIF5C_HUMAN kinesin family member 5C 628 microtubule-based movement|organelle organization cytoplasm|kinesin complex|microtubule ATP binding|microtubule motor activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 36 BRCA - Breast invasive adenocarcinoma(221;0.108) GGAGCTGGCAGCCTGCCAGCT 0.587000 6 16 3.59834e-05 3.92546e-05 0.021553 1 0 ZFC3H1 196441 broad.mit.edu 37 12 72057278 72057278 + Missense_Mutation SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr12:72057278C>T ENST00000378743.3 - 1 471 c.113G>A c.(112-114)aGt>aAt p.S38N THAP2_ENST00000308086.2_5'UTR|ZFC3H1_ENST00000552037.1_Missense_Mutation_p.S38N|ZFC3H1_ENST00000548100.1_Missense_Mutation_p.S38N NM_144982.4 NP_659419.3 O60293 ZC3H1_HUMAN zinc finger, C3H1-type containing 38 Ser-rich. RNA processing intracellular metal ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 GCTGCTCCGACTCCGTATCTG 0.657000 OREG0021993 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 60 106 0 0 0.014410 0 0 TTBK2 146057 broad.mit.edu 37 15 43102902 43102902 + Silent SNP G G A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr15:43102902G>A ENST00000267890.6 - 9 840 c.732C>T c.(730-732)caC>caT p.H244H TTBK2_ENST00000567274.1_Silent_p.H209H|TTBK2_ENST00000567840.1_Silent_p.H244H NM_173500.3 NP_775771.3 Q6IQ55 TTBK2_HUMAN tau tubulin kinase 2 244 Protein kinase. 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) ACATGAGCCTGTGGTCATATC 0.413000 31 52 0 0 0.012213 0 0 TM9SF3 56889 broad.mit.edu 37 10 98292908 98292908 + Missense_Mutation SNP G G C TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr10:98292908G>C ENST00000371142.4 - 10 1441 c.1225C>G c.(1225-1227)Cta>Gta p.L409V NM_020123.3 NP_064508.3 Q9HD45 TM9S3_HUMAN transmembrane 9 superfamily member 3 409 integral to membrane binding breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(2)|prostate(1) 15 Colorectal(252;0.158) Epithelial(162;1.84e-09)|all cancers(201;2.84e-08) ACAAGATTTAGAGGAAGAATA 0.363000 17 31 0 0 0.033300 0 0 PDZD8 118987 broad.mit.edu 37 10 119044328 119044328 + Missense_Mutation SNP A A G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr10:119044328A>G ENST00000334464.5 - 5 2155 c.1916T>C c.(1915-1917)gTg>gCg p.V639A PDZD8_ENST00000482496.1_5'UTR NM_173791.3 NP_776152.1 Q8NEN9 PDZD8_HUMAN PDZ domain containing 8 639 intracellular signal transduction metal ion binding kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3) 38 Colorectal(252;0.19) all cancers(201;0.0121) TATGGCATCCACATTTTTTGC 0.453000 6 55 0 0 0.029380 0 0 CYP2J2 1573 broad.mit.edu 37 1 60392390 60392390 + Missense_Mutation SNP G G A rs146801076 byFrequency TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr1:60392390G>A ENST00000371204.3 - 1 72 c.29C>T c.(28-30)gCt>gTt p.A10V NM_000775.2 NP_000766.2 P51589 CP2J2_HUMAN cytochrome P450, family 2, subfamily J, polypeptide 2 10 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) CCAGAGGGCAGCCGCCAGAGA 0.657000 4 9 0 0 0.009096 0 0 SIX4 51804 broad.mit.edu 37 14 61180764 61180764 + Silent SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr14:61180764C>T ENST00000216513.4 - 3 1766 c.1707G>A c.(1705-1707)caG>caA p.Q569Q NM_017420.4 NP_059116.3 Q9UIU6 SIX4_HUMAN SIX homeobox 4 569 nucleus breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 OV - Ovarian serous cystadenocarcinoma(108;0.0275) CCAAGCCTTCCTGTTTCACAG 0.468000 13 19 0 0 0.024245 0 0 CD248 57124 broad.mit.edu 37 11 66083748 66083748 + Missense_Mutation SNP C C A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr11:66083748C>A ENST00000311330.3 - 1 767 c.751G>T c.(751-753)Gat>Tat p.D251Y RP11-867G23.13_ENST00000534065.1_RNA NM_020404.2 NP_065137.1 Q9HCU0 CD248_HUMAN CD248 molecule, endosialin 251 integral to membrane|proteinaceous extracellular matrix calcium ion binding|sugar binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2) 26 Cefalotin(DB00456) ACGTGACCATCCACCTCCTCC 0.687000 27 33 0.000184323 0.000196382 0.034045 1 0 THSD7B 80731 broad.mit.edu 37 2 137814502 137814502 + Missense_Mutation SNP C C A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr2:137814502C>A ENST00000409968.1 + 3 830 c.652C>A c.(652-654)Cca>Aca p.P218T THSD7B_ENST00000543459.1_Missense_Mutation_p.P77T|THSD7B_ENST00000413152.2_Missense_Mutation_p.P187T|THSD7B_ENST00000272643.3_Missense_Mutation_p.P218T thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) TTTGCAATGTCCAAATCTGAC 0.478000 58 136 1.22119e-34 1.52984e-34 0.014410 1 0 CD248 57124 broad.mit.edu 37 11 66083586 66083586 + Missense_Mutation SNP C C A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr11:66083586C>A ENST00000311330.3 - 1 929 c.913G>T c.(913-915)Gat>Tat p.D305Y RP11-867G23.13_ENST00000534065.1_RNA NM_020404.2 NP_065137.1 Q9HCU0 CD248_HUMAN CD248 molecule, endosialin 305 integral to membrane|proteinaceous extracellular matrix calcium ion binding|sugar binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2) 26 Cefalotin(DB00456) TGCGGATCATCCTCCGCTGGC 0.617000 12 25 1.05317e-09 1.2189e-09 0.020292 1 0 SULF1 23213 broad.mit.edu 37 8 70517085 70517085 + Nonsense_Mutation SNP C C G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr8:70517085C>G ENST00000260128.4 + 13 2012 c.1295C>G c.(1294-1296)tCa>tGa p.S432* SULF1_ENST00000402687.4_Nonsense_Mutation_p.S432*|SULF1_ENST00000419716.3_Nonsense_Mutation_p.S432*|SULF1_ENST00000458141.2_Nonsense_Mutation_p.S432*|SULF1_ENST00000521946.1_3'UTR NM_015170.2 NP_055985.2 Q8IWU6 SULF1_HUMAN sulfatase 1 432 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) ATCCAACAGTCAAATCACTTG 0.463000 29 49 0 0 0.030593 0 0 PCNXL4 64430 broad.mit.edu 37 14 60574583 60574583 + Missense_Mutation SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr14:60574583C>T ENST00000406854.1 + 2 781 c.227C>T c.(226-228)tCa>tTa p.S76L PCNXL4_ENST00000317623.4_Intron|PCNXL4_ENST00000406949.1_Intron|PCNXL4_ENST00000404681.2_Missense_Mutation_p.S76L|PCNXL4_ENST00000391611.2_Missense_Mutation_p.S76L pecanex-like 4 (Drosophila) GCAGCACTTTCAGGTGGATTA 0.368000 10 20 0 0 0.006214 0 0 CES2 8824 broad.mit.edu 37 16 66975087 66975087 + Missense_Mutation SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr16:66975087C>T ENST00000317091.4 + 6 2053 c.1069C>T c.(1069-1071)Cgg>Tgg p.R357W CES2_ENST00000417689.1_Missense_Mutation_p.R357W NM_003869.5 NP_003860.2 O00748 EST2_HUMAN carboxylesterase 2 293 catabolic process endoplasmic reticulum lumen carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1) 12 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166) GGGCTGCCTGCGGGGCAAGAG 0.572000 3 43 0 0 0.009096 0 0 GRIN2D 2906 broad.mit.edu 37 19 48946565 48946565 + Missense_Mutation SNP G G A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr19:48946565G>A ENST00000263269.3 + 13 3470 c.3382G>A c.(3382-3384)Ggc>Agc p.G1128S NM_000836.2 NP_000827.2 O15399 NMDE4_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2D 1128 cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|protein binding autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1) 37 all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161) L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173) GTCGCTGGGCGGCCTGGAGCC 0.756000 6 8 0 0 0.029380 0 0 C12orf4 57102 broad.mit.edu 37 12 4627336 4627336 + Missense_Mutation SNP A A T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr12:4627336A>T ENST00000261250.3 - 8 1008 c.921T>A c.(919-921)agT>agA p.S307R C12orf4_ENST00000545746.1_Missense_Mutation_p.S307R NM_020374.2 NP_065107.1 Q9NQ89 CL004_HUMAN chromosome 12 open reading frame 4 307 NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1) 13 Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229) BRCA - Breast invasive adenocarcinoma(232;0.0281) GTTTCACACCACTTCGATGAT 0.413000 55 67 0 0 0.014410 0 0 CD248 57124 broad.mit.edu 37 11 66083845 66083845 + Silent SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr11:66083845C>T ENST00000311330.3 - 1 670 c.654G>A c.(652-654)gaG>gaA p.E218E RP11-867G23.13_ENST00000534065.1_RNA NM_020404.2 NP_065137.1 Q9HCU0 CD248_HUMAN CD248 molecule, endosialin 218 Sushi. integral to membrane|proteinaceous extracellular matrix calcium ion binding|sugar binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2) 26 Cefalotin(DB00456) CCACACCTCCCTCAGGCTGCT 0.662000 25 20 0 0 0.024334 0 0 PCDHA2 56146 broad.mit.edu 37 5 140175998 140175998 + Missense_Mutation SNP C C A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr5:140175998C>A ENST00000526136.1 + 1 1449 c.1449C>A c.(1447-1449)gaC>gaA p.D483E PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.D483E|PCDHA2_ENST00000520672.2_Missense_Mutation_p.D483E NM_018905.2 NP_061728.1 NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGGATGCGGACGCGCAGGAGA 0.657000 38 82 7.05121e-23 8.69014e-23 0.039052 1 0 ESCO2 157570 broad.mit.edu 37 8 27657230 27657230 + Missense_Mutation SNP T T G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr8:27657230T>G ENST00000305188.8 + 10 1908 c.1670T>G c.(1669-1671)cTc>cGc p.L557R ESCO2_ENST00000397418.2_Missense_Mutation_p.L205R NM_001017420.2 NP_001017420.1 Q56NI9 ESCO2_HUMAN establishment of sister chromatid cohesion N-acetyltransferase 2 557 cell cycle|post-translational protein acetylation|regulation of DNA replication chromatin|nucleus acyltransferase activity|metal ion binding autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Ovarian(32;0.000953) UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132) GTTGATACCCTCAGGTAAGAA 0.428000 SC Phocomelia syndrome 26 53 0 0 0.037714 0 0 SYNJ1 8867 broad.mit.edu 37 21 34099218 34099218 + Missense_Mutation SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr21:34099218C>T ENST00000382499.2 - 2 105 c.106G>A c.(106-108)Gaa>Aaa p.E36K SYNJ1_ENST00000357345.3_5'UTR|SYNJ1_ENST00000382491.3_5'UTR|SYNJ1_ENST00000433931.2_Missense_Mutation_p.E36K NM_203446.2 NP_982271.2 O43426 SYNJ1_HUMAN synaptojanin 1 0 inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 57 CTCCTTTCTTCGGAGGCAGCC 0.488000 24 46 0 0 0.037714 0 0 KIAA1143 57456 broad.mit.edu 37 3 44795015 44795015 + Missense_Mutation SNP T T C TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr3:44795015T>C ENST00000296121.4 - 3 342 c.283A>G c.(283-285)Atc>Gtc p.I95V KIAA1143_ENST00000484437.1_5'UTR NM_020696.3 NP_065747.1 Q96AT1 K1143_HUMAN KIAA1143 95 NS(1)|breast(1)|central_nervous_system(1)|large_intestine(1)|stomach(1) 5 BRCA - Breast invasive adenocarcinoma(193;0.00847)|KIRC - Kidney renal clear cell carcinoma(197;0.0465)|Kidney(197;0.0582) CGATATATGATTCTTCCATCG 0.343000 3 41 0 0 0.004672 0 0 MYH9 4627 broad.mit.edu 37 22 36701124 36701124 + Silent SNP G G T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr22:36701124G>T ENST00000216181.5 - 18 2414 c.2184C>A c.(2182-2184)tcC>tcA p.S728S NM_002473.4 NP_002464.1 P35579 MYH9_HUMAN myosin, heavy chain 9, non-muscle 728 Myosin head-like. actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 CCTTGGGAATGGAGTTTGGAG 0.537000 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 20 45 2.37509e-13 2.80581e-13 0.010504 1 0 SLC25A45 283130 broad.mit.edu 37 11 65144112 65144112 + Silent SNP T T A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr11:65144112T>A ENST00000417511.2 - 10 1641 c.507A>T c.(505-507)gcA>gcT p.A169A SLC25A45_ENST00000398802.1_Silent_p.A211A|SLC25A45_ENST00000534028.1_Silent_p.A187A|SLC25A45_ENST00000526432.1_Silent_p.A149A|SLC25A45_ENST00000294187.6_Silent_p.A169A|SLC25A45_ENST00000360662.3_Silent_p.A187A|SLC25A45_ENST00000527174.1_Silent_p.A211A|SLC25A45_ENST00000377152.2_Silent_p.A107A NM_001278251.1 NP_001265180.1 Q8N413 S2545_HUMAN solute carrier family 25, member 45 211 transmembrane transport integral to membrane|mitochondrial inner membrane binding endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1) 14 AAGCAATGCCTGCAAAGCCCC 0.612000 30 19 0 0 0.041601 0 0 ACN9 57001 broad.mit.edu 37 7 96747113 96747113 + Silent SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr7:96747113C>T ENST00000432641.2 + 1 1212 c.78C>T c.(76-78)gaC>gaT p.D26D ACN9_ENST00000360382.4_Silent_p.D26D NM_020186.2 NP_064571.1 Q9NRP4 ACN9_HUMAN ACN9 homolog (S. cerevisiae) 26 regulation of gluconeogenesis mitochondrial intermembrane space large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(3) 10 all_cancers(62;2.54e-08)|all_epithelial(64;2.24e-08)|Esophageal squamous(72;0.00507)|all_lung(186;0.154)|Lung NSC(181;0.159) TGCCCCCGGACCTCAAATCCC 0.597000 16 58 0 0 0.028581 0 0 GRB7 2886 broad.mit.edu 37 17 37899470 37899470 + Silent SNP G G T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr17:37899470G>T ENST00000309156.4 + 5 758 c.501G>T c.(499-501)gtG>gtT p.V167V GRB7_ENST00000578702.1_3'UTR|GRB7_ENST00000445327.2_Silent_p.V190V|GRB7_ENST00000394211.3_Silent_p.V167V|GRB7_ENST00000394204.1_Silent_p.V167V|GRB7_ENST00000394209.2_Silent_p.V167V|GRB7_ENST00000309185.3_Silent_p.V167V NM_005310.3 NP_005301.2 Q14451 GRB7_HUMAN growth factor receptor-bound protein 7 167 Ras-associating. blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly cytosol|focal adhesion|stress granule phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) TGGTGGAAGTGCAGGCTGCCT 0.582000 8 82 2.17888e-05 2.38838e-05 0.006214 1 0 OR2T1 26696 broad.mit.edu 37 1 248569576 248569576 + Missense_Mutation SNP T T A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr1:248569576T>A ENST00000366474.1 + 1 281 c.281T>A c.(280-282)gTt>gAt p.V94D NM_030904.1 NP_112166.1 O43869 OR2T1_HUMAN olfactory receptor, family 2, subfamily T, member 1 94 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 39 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) GCCAATGGGGTTATGATCTTC 0.428000 20 136 0 0 0.010504 0 0 CD248 57124 broad.mit.edu 37 11 66083548 66083548 + Missense_Mutation SNP C C G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr11:66083548C>G ENST00000311330.3 - 1 967 c.951G>C c.(949-951)caG>caC p.Q317H RP11-867G23.13_ENST00000534065.1_RNA NM_020404.2 NP_065137.1 Q9HCU0 CD248_HUMAN CD248 molecule, endosialin 317 EGF-like; calcium-binding (Potential). integral to membrane|proteinaceous extracellular matrix calcium ion binding|sugar binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2) 26 Cefalotin(DB00456) CACCGGCAATCTGGCACTCAT 0.597000 13 29 0 0 0.028581 0 0 POM121L9P 29774 broad.mit.edu 37 22 24659593 24659593 + RNA SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr22:24659593C>T ENST00000414583.2 + 0 3118 NR_003714.1 TCACTGACATCGAAGGCTGCC 0.632000 4 27 0 0 0.009096 0 0 CDH18 1016 broad.mit.edu 37 5 19571938 19571938 + Missense_Mutation SNP G G T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr5:19571938G>T ENST00000507958.1 - 10 1993 c.1003C>A c.(1003-1005)Ctg>Atg p.L335M CDH18_ENST00000511273.1_Missense_Mutation_p.L335M|CDH18_ENST00000502796.1_Missense_Mutation_p.L335M|CDH18_ENST00000506372.1_Missense_Mutation_p.L335M|CDH18_ENST00000382275.1_Missense_Mutation_p.L335M|CDH18_ENST00000274170.4_Missense_Mutation_p.L335M Q13634 CAD18_HUMAN cadherin 18, type 2 335 Cadherin 3. 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) TCATAGTTCAGTGGCTGTGGG 0.299000 14 20 1.49906e-05 1.65114e-05 0.020292 1 0 HECTD1 25831 broad.mit.edu 37 14 31626071 31626071 + Missense_Mutation SNP T T G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr14:31626071T>G ENST00000399332.1 - 12 2395 c.1907A>C c.(1906-1908)aAt>aCt p.N636T HECTD1_ENST00000553700.1_Missense_Mutation_p.N636T NM_015382.2 NP_056197.2 Q9ULT8 HECD1_HUMAN HECT domain containing E3 ubiquitin protein ligase 1 636 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular metal ion binding|protein binding|ubiquitin-protein ligase activity breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 70 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00617) TTCCTCTTCATTCTCATCATC 0.343000 25 36 0 0 0.024334 0 0 ACOT11 26027 broad.mit.edu 37 1 55064970 55064970 + Splice_Site SNP C C T rs148238018 byFrequency TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr1:55064970C>T ENST00000371316.3 + 8 848 c.764_splice c.e8-1 p.R256_splice ACOT11_ENST00000481208.1_3'UTR|ACOT11_ENST00000343744.2_Splice_Site_p.R256_splice NM_015547.3 NP_056362.1 Q8WXI4 ACO11_HUMAN acyl-CoA thioesterase 11 256 Acyl coenzyme A hydrolase 2. fatty acid metabolic process|intracellular signal transduction|response to cold acyl-CoA thioesterase activity|carboxylesterase activity NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1) 17 CCTCCTCAGCCGGCTCTGCCG 0.522000 18 27 0 0 0.038395 0 0 COL6A6 131873 broad.mit.edu 37 3 130283910 130283910 + Missense_Mutation SNP T T C TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr3:130283910T>C ENST00000358511.6 + 3 765 c.734T>C c.(733-735)tTt>tCt p.F245S COL6A6_ENST00000453409.2_Missense_Mutation_p.F245S NM_001102608.1 NP_001096078.1 A6NMZ7 CO6A6_HUMAN collagen, type VI, alpha 6 245 Nonhelical region.|VWFA 2. 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 GAGGAGAACTTTGACTATCTT 0.418000 43 83 0 0 0.030466 0 0 KLHL24 54800 broad.mit.edu 37 3 183369021 183369021 + Missense_Mutation SNP A A G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr3:183369021A>G ENST00000454652.1 + 4 1263 c.877A>G c.(877-879)Ata>Gta p.I293V KLHL24_ENST00000476808.1_Missense_Mutation_p.I293V|KLHL24_ENST00000242810.6_Missense_Mutation_p.I293V Q6TFL4 KLH24_HUMAN kelch-like family member 24 293 axon|cytoplasm|perikaryon NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 27 all_cancers(143;2.88e-10)|Ovarian(172;0.0303) all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22) ACGGTACCACATACTTGGGAA 0.388000 13 48 0 0 0.020292 0 0 KSR2 283455 broad.mit.edu 37 12 117968797 117968797 + Missense_Mutation SNP G G A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr12:117968797G>A ENST00000425217.1 - 12 1718 c.1664C>T c.(1663-1665)aCg>aTg p.T555M KSR2_ENST00000302438.5_Missense_Mutation_p.T281M|KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000339824.5_Missense_Mutation_p.T584M NM_173598.4 NP_775869.3 Q6VAB6 KSR2_HUMAN kinase suppressor of ras 2 584 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) CCGGGTCGGCGTCTCCGGCAC 0.562000 51 94 0 0 0.014410 0 0 SNW1 22938 broad.mit.edu 37 14 78184661 78184661 + Missense_Mutation SNP T T G rs17825620 by1000genomes TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr14:78184661T>G ENST00000555761.1 - 13 1489 c.1461A>C c.(1459-1461)aaA>aaC p.K487N SNW1_ENST00000554775.1_Intron|SNW1_ENST00000261531.7_Intron|SLIRP_ENST00000557623.1_Intron|SLIRP_ENST00000557431.1_Intron Q13573 SNW1_HUMAN SNW domain containing 1 0 negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter catalytic step 2 spliceosome|nucleoplasm Notch binding NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0291) TATGAACTACTTTGCTTTCAC 0.438000 4 107 0 0 0.009096 0 0 NDUFA6 4700 broad.mit.edu 37 22 42482286 42482286 + Silent SNP T T C TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr22:42482286T>C ENST00000498737.2 - 3 498 c.366A>G c.(364-366)gtA>gtG p.V122V NDUFA6_ENST00000602404.1_Silent_p.V96V|SMDT1_ENST00000547929.1_Intron|NDUFA6_ENST00000470753.1_Silent_p.V39V NM_002490.3 NP_002481.2 P56556 NDUA6_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 6, 14kDa 122 mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity kidney(1)|lung(3)|upper_aerodigestive_tract(1) 5 NADH(DB00157) GCTGCTTCCATACTTTAATTG 0.453000 28 59 0 0 0.027356 0 0 COPZ1 22818 broad.mit.edu 37 12 54744278 54744278 + Missense_Mutation SNP G G A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr12:54744278G>A ENST00000262061.2 + 9 542 c.505G>A c.(505-507)Gaa>Aaa p.E169K COPZ1_ENST00000416254.2_Missense_Mutation_p.E118K|COPZ1_ENST00000552218.1_Missense_Mutation_p.E190K|COPZ1_ENST00000549043.1_Missense_Mutation_p.E177K|COPZ1_ENST00000551779.1_3'UTR|COPZ1_ENST00000552362.1_Missense_Mutation_p.E152K|COPZ1_ENST00000549116.1_Missense_Mutation_p.E111K|COPZ1_ENST00000548753.1_Missense_Mutation_p.E81K|COPZ1_ENST00000548281.1_3'UTR|COPZ1_ENST00000455864.2_Missense_Mutation_p.E146K NM_001271734.1|NM_001271736.1|NM_016057.1 NP_001258663.1|NP_001258665.1|NP_057141.1 P61923 COPZ1_HUMAN coatomer protein complex, subunit zeta 1 169 COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol kidney(1)|lung(4) 5 GTCAGCCAAAGAACAGATCAA 0.493000 10 148 0 0 0.006214 0 0 NUTM2G 441457 broad.mit.edu 37 9 99694538 99694538 + Missense_Mutation SNP G G C TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr9:99694538G>C ENST00000354649.3 + 2 1266 c.551G>C c.(550-552)gGa>gCa p.G184A NUTM2G_ENST00000372322.3_Missense_Mutation_p.G184A|HIATL2_ENST00000506067.1_Intron NM_001045477.2 NP_001038942.1 NUT family member 2G GGGGCTCATGGAGAGGGCAGC 0.647000 19 110 0 0 0.016522 0 0 OTOGL 283310 broad.mit.edu 37 12 80752051 80752051 + Missense_Mutation SNP G G T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr12:80752051G>T ENST00000458043.2 + 49 6022 c.6016G>T c.(6016-6018)Gtt>Ttt p.V2006F OTOGL_ENST00000547103.1_Missense_Mutation_p.V1994F|OTOGL_ENST00000546620.1_Missense_Mutation_p.V25F NM_173591.3 NP_775862.3 otogelin-like breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1) 23 CACCAAACCTGTTCCACTATG 0.343000 6 15 0.00116845 0.00122768 0.021553 1 0 GLRA1 2741 broad.mit.edu 37 5 151202317 151202317 + Missense_Mutation SNP A A C TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr5:151202317A>C ENST00000274576.4 - 9 1559 c.1267T>G c.(1267-1269)Ttc>Gtc p.F423V GLRA1_ENST00000545569.1_Missense_Mutation_p.F340V|GLRA1_ENST00000455880.2_Missense_Mutation_p.F431V NM_000171.3|NM_001146040.1 NP_000162.2|NP_001139512.1 P23415 GLRA1_HUMAN glycine receptor, alpha 1 431 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) GCCATGGGGAAGCCAATGCGG 0.507000 26 42 0 0 0.021523 0 0 PRKAR2B 5577 broad.mit.edu 37 7 106781395 106781395 + Missense_Mutation SNP A A T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr7:106781395A>T ENST00000265717.4 + 5 843 c.584A>T c.(583-585)gAt>gTt p.D195V PRKAR2B_ENST00000393613.2_3'UTR NM_002736.2 NP_002727.2 P31323 KAP3_HUMAN protein kinase, cAMP-dependent, regulatory, type II, beta 195 activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport centrosome|cytosol|plasma membrane cAMP binding|cAMP-dependent protein kinase regulator activity breast(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1) 14 TATGTAATTGATAGGTAAGTT 0.348000 15 28 0 0 0.020292 0 0 CUL3 8452 broad.mit.edu 37 2 225368470 225368470 + Missense_Mutation SNP C C G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr2:225368470C>G ENST00000264414.4 - 9 1614 c.1276G>C c.(1276-1278)Gat>Cat p.D426H CUL3_ENST00000409777.1_Missense_Mutation_p.D402H|CUL3_ENST00000409096.1_Missense_Mutation_p.D402H|CUL3_ENST00000344951.4_Missense_Mutation_p.D360H NM_003590.4 NP_003581.1 Q13618 CUL3_HUMAN cullin 3 426 cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule ubiquitin protein ligase binding endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3) 46 all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138) Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902) TCAAATACATCTTTTTCTTGC 0.294000 7 4 0 0 0.029380 0 0 PARP12 64761 broad.mit.edu 37 7 139727186 139727186 + Silent SNP G G T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr7:139727186G>T ENST00000263549.3 - 10 2391 c.1518C>A c.(1516-1518)tcC>tcA p.S506S NM_022750.2 NP_073587.1 Q9H0J9 PAR12_HUMAN poly (ADP-ribose) polymerase family, member 12 506 PARP catalytic. nucleus NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1) 19 Melanoma(164;0.0142) ACTCTTCCGAGGAAGAACTAA 0.448000 19 55 2.94398e-08 3.33944e-08 0.043863 1 0 AJUBA 84962 broad.mit.edu 37 14 23450641 23450641 + Nonsense_Mutation SNP C C A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr14:23450641C>A ENST00000262713.2 - 1 1210 c.835G>T c.(835-837)Gag>Tag p.E279* RP11-298I3.5_ENST00000555074.1_Intron|AJUBA_ENST00000361265.4_Nonsense_Mutation_p.E279* NM_032876.4 NP_116265.1 Q96IF1 JUB_HUMAN ajuba LIM protein 279 PreLIM. cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center alpha-catenin binding|zinc ion binding GCTGTTAGCTCGTCCTGGTAC 0.711000 7 15 8.12818e-05 8.74163e-05 0.029380 1 0 CSMD3 114788 broad.mit.edu 37 8 113988125 113988125 + Missense_Mutation SNP C C G TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr8:113988125C>G ENST00000297405.5 - 7 1527 c.1283G>C c.(1282-1284)aGa>aCa p.R428T CSMD3_ENST00000343508.3_Missense_Mutation_p.R388T|CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000352409.3_Missense_Mutation_p.R428T NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 428 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 ATGTCTTGGTCTTCTCCTGGT 0.453000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 36 92 0 0 0.015359 0 0 TPCN2 219931 broad.mit.edu 37 11 68835058 68835058 + Missense_Mutation SNP G G A rs142288453 byFrequency TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr11:68835058G>A ENST00000294309.3 + 8 915 c.814G>A c.(814-816)Gcc>Acc p.A272T TPCN2_ENST00000442692.2_3'UTR|TPCN2_ENST00000542467.1_Missense_Mutation_p.A272T NM_139075.3 NP_620714.2 Q8NHX9 TPC2_HUMAN two pore segment channel 2 272 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) GCTGACCACGGCCAACAACCC 0.637000 12 366 0 0 0.020292 0 0 ELMO3 79767 broad.mit.edu 37 16 67234109 67234109 + Silent SNP G G A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr16:67234109G>A ENST00000393997.2 + 5 474 c.417G>A c.(415-417)gaG>gaA p.E139E ELMO3_ENST00000477898.1_5'UTR|ELMO3_ENST00000571638.1_3'UTR|ELMO3_ENST00000360833.1_Silent_p.E122E NM_024712.3 NP_078988.2 Q96BJ8 ELMO3_HUMAN engulfment and cell motility 3 86 apoptosis|phagocytosis cytoplasm|cytoskeleton SH3 domain binding cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3) 18 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417) TTGAGGCTGAGCAGCTCTTGG 0.642000 7 7 0 0 0.029380 0 0 SLC27A6 28965 broad.mit.edu 37 5 128324299 128324299 + Missense_Mutation SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr5:128324299C>T ENST00000262462.4 + 3 1702 c.692C>T c.(691-693)cCa>cTa p.P231L SLC27A6_ENST00000506176.1_Missense_Mutation_p.P231L|SLC27A6_ENST00000395266.1_Missense_Mutation_p.P231L Q9Y2P4 S27A6_HUMAN solute carrier family 27 (fatty acid transporter), member 6 231 P -> S (in Ref. 3; CAG33410). long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process integral to membrane|sarcolemma fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1) 44 all_cancers(142;0.0483)|Prostate(80;0.055) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186) CCAGGTCTACCAAAAGCAGCT 0.368000 30 32 0 0 0.041601 0 0 CD248 57124 broad.mit.edu 37 11 66084045 66084045 + Missense_Mutation SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr11:66084045C>T ENST00000311330.3 - 1 470 c.454G>A c.(454-456)Gac>Aac p.D152N RP11-867G23.13_ENST00000534065.1_RNA NM_020404.2 NP_065137.1 Q9HCU0 CD248_HUMAN CD248 molecule, endosialin 152 C-type lectin. integral to membrane|proteinaceous extracellular matrix calcium ion binding|sugar binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2) 26 Cefalotin(DB00456) AGGTAGCCGTCGACAGCCAGC 0.716000 17 15 0 0 0.038395 0 0 PHACTR4 65979 broad.mit.edu 37 1 28785730 28785730 + Frame_Shift_Del DEL A A - TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr1:28785730delA ENST00000373839.3 + 3 412 c.151delA c.(151-153)aafs p.K53fs PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Frame_Shift_Del_p.K63fs NM_001048183.1 NP_001041648.1 Q8IZ21 PHAR4_HUMAN phosphatase and actin regulator 4 53 actin binding|protein phosphatase inhibitor activity p.S64fs*12(3) NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 32 Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261) OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649) GAAATGGAGGAAAAAAAAAAG 0.393 7 54 --- --- --- --- ATP1A4 480 broad.mit.edu 37 1 160156092 160156095 + Frame_Shift_Del DEL CCTA CCTA - TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr1:160156092_160156095delCCTA ENST00000368081.4 + 21 3467_3470 c.2996_2999delCCTA c.(2995-3000)ccfs p.PY999fs ATP1A4_ENST00000470705.1_Frame_Shift_Del_p.PY135fs NM_144699.3 NP_653300.2 Q13733 AT1A4_HUMAN ATPase, Na+/K+ transporting, alpha 4 polypeptide 999 ITWWLCAIPYSILIFVYDEIRKLLIRQ -> WSFALTAQAG VKWRILGLLQPLPPRFK (in Ref. 6; BAC05228). ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 75 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) TGTGCCATTCCCTACAGTATTCTC 0.549 16 615 --- --- --- --- GPR161 23432 broad.mit.edu 37 1 168074064 168074068 + Frame_Shift_Del DEL AGCTG AGCTG - TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr1:168074064_168074068delAGCTG ENST00000367838.1 - 4 334_338 c.21_25delCAGCT c.(19-27)ctgcfs p.LSC7fs GPR161_ENST00000546300.1_Intron|GPR161_ENST00000271357.5_Frame_Shift_Del_p.LSC7fs|GPR161_ENST00000367836.1_Intron|GPR161_ENST00000539777.1_Intron|GPR161_ENST00000361697.2_Frame_Shift_Del_p.LSC7fs|GPR161_ENST00000537209.1_Frame_Shift_Del_p.LSC27fs|GPR161_ENST00000367835.1_Frame_Shift_Del_p.LSC7fs NM_001267611.1|NM_153832.2 NP_001254540.1|NP_722561.1 Q8N6U8 GP161_HUMAN G protein-coupled receptor 161 7 multicellular organismal development integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1) 26 all_hematologic(923;0.215) TCCTTCCTGCAGCTGAGGGAGGAGT 0.566 22 892 --- --- --- --- EHBP1 23301 broad.mit.edu 37 2 63086416 63086417 + Frame_Shift_Ins INS - - GACTCAGA TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr2:63086416_63086417insGACTCAGA ENST00000263991.5 + 9 1334_1335 c.852_853insGACTCAGA c.(850-855)ccactcfs p.L285fs EHBP1_ENST00000405289.1_Frame_Shift_Ins_p.L250fs|EHBP1_ENST00000354487.3_Frame_Shift_Ins_p.L250fs|EHBP1_ENST00000405015.3_Frame_Shift_Ins_p.L250fs|EHBP1_ENST00000431489.1_Frame_Shift_Ins_p.L250fs NM_015252.3 NP_056067.2 Q8NDI1 EHBP1_HUMAN EH domain binding protein 1 285 cytoplasm|membrane biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 47 Lung NSC(7;0.0951)|all_lung(7;0.169) LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189) TTGGAGATCCTGACTCAGAAGG 0.361 11 54 --- --- --- --- GAB1 2549 broad.mit.edu 37 4 144361302 144361303 + Frame_Shift_Ins INS - - T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr4:144361302_144361303insT ENST00000262995.4 + 6 1779_1780 c.1352_1353insT c.(1351-1353)accfs p.T451fs GAB1_ENST00000262994.4_Frame_Shift_Ins_p.T451fs|GAB1_ENST00000505913.1_Frame_Shift_Ins_p.T348fs NM_207123.2 NP_997006.1 Q13480 GAB1_HUMAN GRB2-associated binding protein 1 451 Pro-rich. cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway cytosol SH3/SH2 adaptor activity breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 30 all_hematologic(180;0.158) GTCCCAATGAATCCCAATTCAC 0.351 35 31 --- --- --- --- APC 324 broad.mit.edu 37 5 112173680 112173680 + Frame_Shift_Del DEL G G - TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr5:112173680delG ENST00000457016.1 + 16 2769 c.2389delG c.(2389-2391)gtfs p.G797fs APC_ENST00000257430.4_Frame_Shift_Del_p.G797fs|APC_ENST00000508376.2_Frame_Shift_Del_p.G797fs|CTC-554D6.1_ENST00000520401.1_Intron P25054 APC_HUMAN adenomatous polyposis coli 797 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) AAGTCTCTATGGTGATTATGT 0.358 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) 12 59 --- --- --- --- CTBP2 1488 broad.mit.edu 37 10 126715243 126715244 + Frame_Shift_Ins INS - - C TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr10:126715243_126715244insC ENST00000309035.6 - 1 1215_1216 c.1085_1086insG c.(1084-1086)gccfs p.A362fs CTBP2_ENST00000494626.2_Intron|CTBP2_ENST00000411419.2_Intron|CTBP2_ENST00000337195.5_Intron|CTBP2_ENST00000531469.1_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) ggggcagcgggcccccccggTC 0.668 5 9 --- --- --- --- MUC6 4588 broad.mit.edu 37 11 1016769 1016771 + In_Frame_Del DEL GGT GGT - TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr11:1016769_1016771delGGT ENST00000421673.2 - 31 6080_6082 c.6030_6032delACC c.(6028-6033)cct>cc p.PP2010del NM_005961.2 NP_005952.2 Q6W4X9 MUC6_HUMAN mucin 6, oligomeric mucus/gel-forming 2010 Thr-rich. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent p.P2011S(1) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) GGTGGAGAAAGGTGGAACGTGAG 0.537 9 1388 --- --- --- --- PRB2 653247 broad.mit.edu 37 12 11546856 11546858 + In_Frame_Del DEL AGA AGA - TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr12:11546856_11546858delAGA ENST00000389362.4 - 3 189_191 c.154_156delTCT c.(154-156)del p.S52del PRB1_ENST00000546254.1_Intron NM_006248.3 NP_006239.3 proline-rich protein BstNI subfamily 2 p.?(2)|p.A39_G59delAPPQGGNKPQGPPSPPGKPQG(1) 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) TTCCTGGAGGAGATGGGGGACCT 0.557 9 397 --- --- --- --- TGM7 116179 broad.mit.edu 37 15 43579612 43579612 + Frame_Shift_Del DEL C C - TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr15:43579612delC ENST00000452443.2 - 6 735 c.731delG c.(730-732)gcfs p.G244fs NM_052955.2 NP_443187.1 Q96PF1 TGM7_HUMAN transglutaminase 7 244 peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1) 39 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;9.14e-07) L-Glutamine(DB00130) GTAGTCCTCGCCCCAGTTCCC 0.607 17 34 --- --- --- --- HAPLN3 145864 broad.mit.edu 37 15 89424690 89424691 + Frame_Shift_Del DEL GC GC - rs78894646 byFrequency TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr15:89424690_89424691delGC ENST00000359595.3 - 3 604_605 c.390_391delGC c.(388-393)tctgfs p.SL130fs HAPLN3_ENST00000562889.1_Frame_Shift_Del_p.SL192fs NM_178232.2 NP_839946.1 Q96S86 HPLN3_HUMAN hyaluronan and proteoglycan link protein 3 130 Ig-like V-type. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1) 17 Lung NSC(78;0.0392)|all_lung(78;0.077) TGGATCTCCAGCGAGACGTCAT 0.629 32 142 --- --- --- --- SYNRG 11276 broad.mit.edu 37 17 35896099 35896100 + Frame_Shift_Ins INS - - A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr17:35896099_35896100insA ENST00000339208.6 - 19 3787_3788 c.3647_3648insT c.(3646-3648)atcfs p.I1216fs SYNRG_ENST00000346661.4_Frame_Shift_Ins_p.I1216fs|SYNRG_ENST00000345615.4_Frame_Shift_Ins_p.I1138fs|SYNRG_ENST00000591288.1_Frame_Shift_Ins_p.I1010fs|SYNRG_ENST00000585472.1_Frame_Shift_Ins_p.I1137fs|SYNRG_ENST00000502449.2_Frame_Shift_Ins_p.I1093fs|SYNRG_ENST00000394378.2_Frame_Shift_Ins_p.I1138fs NM_001163544.1|NM_001163545.1|NM_007247.4 NP_001157016.1|NP_001157017.1|NP_009178.3 Q9UMZ2 SYNRG_HUMAN synergin, gamma 1216 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 TGGCGAGTGACATGAAGCCGAT 0.460 9 63 --- --- --- --- APOC1P1 342 broad.mit.edu 37 19 45431267 45431268 + RNA INS - - A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr19:45431267_45431268insA ENST00000574565.1 + 0 402 NR_028412.1 TGAACAGATTGAAAAAAAAAAC 0.525 2 4 --- --- --- --- FTL 2512 broad.mit.edu 37 19 49469858 49469861 + Frame_Shift_Del DEL ACTC ACTC - TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr19:49469858_49469861delACTC ENST00000331825.6 + 4 601_604 c.394_397delACTC c.(394-399)acfs p.TH132fs NM_000146.3 NP_000137.2 P02792 FRIL_HUMAN ferritin, light polypeptide 132 Ferritin-like diiron. cell death|cellular iron ion homeostasis|cellular membrane organization|iron ion transport|post-Golgi vesicle-mediated transport cytosol|intracellular ferritin complex ferric iron binding|identical protein binding|oxidoreductase activity cervix(1)|kidney(3)|lung(5) 9 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000152)|all cancers(93;0.000435)|GBM - Glioblastoma multiforme(486;0.0171)|Epithelial(262;0.0267) Iron Dextran(DB00893) CTTCCTGGAGACTCACTTCCTAGA 0.525 60 157 --- --- --- --- LILRB5 10990 broad.mit.edu 37 19 54754838 54754839 + Frame_Shift_Ins INS - - G rs11375503 TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chr19:54754838_54754839insG ENST00000450632.1 - 13 1873_1874 c.1796_1797insC c.(1795-1797)cccfs p.P599fs LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000316219.5_Intron O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 424 cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 56 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GTGGTGGGGGTGGGGAGGCCTG 0.604 11 6 --- --- --- --- CAPN6 827 broad.mit.edu 37 X 110490693 110490698 + In_Frame_Del DEL TCCTCC TCCTCC - TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chrX:110490693_110490698delTCCTCC ENST00000324068.1 - 12 1808_1813 c.1641_1646delGGAGGA c.(1639-1647)aaa>aa p.KEE547del CAPN6_ENST00000541758.1_In_Frame_Del_p.KEE292del NM_014289.3 NP_055104.2 Q9Y6Q1 CAN6_HUMAN calpain 6 547 C2. 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 AGAACGGACTTCCTCCTTTCCACATT 0.393 21 26 --- --- --- --- TBL1Y 90665 broad.mit.edu 37 Y 6948772 6948773 + Splice_Site INS - - C TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 7dbbc6b9-3e72-4914-b072-4d1a5af90c1f g.chrY:6948772_6948773insC ENST00000383032.1 + 14 1602_1603 c.e14-1 TBL1Y_ENST00000346432.3_Splice_Site|TBL1Y_ENST00000355162.2_Splice_Site NM_033284.1 NP_150600.1 Q9BQ87 TBL1Y_HUMAN transducin (beta)-like 1, Y-linked transcription, DNA-dependent kidney(1)|large_intestine(4)|lung(2)|skin(1) 8 CCCTGCTGCAGCCCCCGCCCTT 0.510 34 15 --- --- --- --- GPR161 23432 broad.mit.edu 37 1 168074064 168074068 + Frame_Shift_Del DEL AGCTG AGCTG - TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr1:168074064_168074068delAGCTG ENST00000367838.1 - 4 334_338 c.21_25delCAGCT c.(19-27)ctgcfs p.LSC7fs GPR161_ENST00000361697.2_Frame_Shift_Del_p.LSC7fs|GPR161_ENST00000367836.1_Intron|GPR161_ENST00000537209.1_Frame_Shift_Del_p.LSC27fs|GPR161_ENST00000367835.1_Frame_Shift_Del_p.LSC7fs|GPR161_ENST00000539777.1_Intron|GPR161_ENST00000271357.5_Frame_Shift_Del_p.LSC7fs|GPR161_ENST00000546300.1_Intron NM_001267611.1|NM_153832.2 NP_001254540.1|NP_722561.1 Q8N6U8 GP161_HUMAN G protein-coupled receptor 161 7 multicellular organismal development integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1) 26 all_hematologic(923;0.215) TCCTTCCTGCAGCTGAGGGAGGAGT 0.566 22 892 --- --- --- --- EHBP1 23301 broad.mit.edu 37 2 63086416 63086417 + Frame_Shift_Ins INS - - GACTCAGA TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr2:63086416_63086417insGACTCAGA ENST00000263991.5 + 9 1334_1335 c.852_853insGACTCAGA c.(850-855)ccactcfs p.L285fs EHBP1_ENST00000405015.3_Frame_Shift_Ins_p.L250fs|EHBP1_ENST00000431489.1_Frame_Shift_Ins_p.L250fs|EHBP1_ENST00000405289.1_Frame_Shift_Ins_p.L250fs|EHBP1_ENST00000354487.3_Frame_Shift_Ins_p.L250fs NM_015252.3 NP_056067.2 Q8NDI1 EHBP1_HUMAN EH domain binding protein 1 285 cytoplasm|membrane biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 47 Lung NSC(7;0.0951)|all_lung(7;0.169) LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189) TTGGAGATCCTGACTCAGAAGG 0.361 11 54 --- --- --- --- GAB1 2549 broad.mit.edu 37 4 144361302 144361303 + Frame_Shift_Ins INS - - T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr4:144361302_144361303insT ENST00000262995.4 + 6 1779_1780 c.1352_1353insT c.(1351-1353)accfs p.T451fs GAB1_ENST00000262994.4_Frame_Shift_Ins_p.T451fs|GAB1_ENST00000505913.1_Frame_Shift_Ins_p.T348fs NM_207123.2 NP_997006.1 Q13480 GAB1_HUMAN GRB2-associated binding protein 1 451 Pro-rich. cell proliferation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway cytosol SH3/SH2 adaptor activity breast(3)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 30 all_hematologic(180;0.158) GTCCCAATGAATCCCAATTCAC 0.351 35 31 --- --- --- --- APC 324 broad.mit.edu 37 5 112173680 112173680 + Frame_Shift_Del DEL G G - TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr5:112173680delG ENST00000457016.1 + 16 2769 c.2389delG c.(2389-2391)gtfs p.G797fs CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Frame_Shift_Del_p.G797fs|APC_ENST00000257430.4_Frame_Shift_Del_p.G797fs P25054 APC_HUMAN adenomatous polyposis coli 797 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) AAGTCTCTATGGTGATTATGT 0.358 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) 12 59 --- --- --- --- CTBP2 1488 broad.mit.edu 37 10 126715243 126715244 + Frame_Shift_Ins INS - - C TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr10:126715243_126715244insC ENST00000309035.6 - 1 1215_1216 c.1085_1086insG c.(1084-1086)gccfs p.A362fs CTBP2_ENST00000337195.5_Intron|CTBP2_ENST00000494626.2_Intron|CTBP2_ENST00000531469.1_Intron|CTBP2_ENST00000411419.2_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) ggggcagcgggcccccccggTC 0.668 5 9 --- --- --- --- MUC6 4588 broad.mit.edu 37 11 1016769 1016771 + In_Frame_Del DEL GGT GGT - TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr11:1016769_1016771delGGT ENST00000421673.2 - 31 6080_6082 c.6030_6032delACC c.(6028-6033)cct>cc p.PP2010del NM_005961.2 NP_005952.2 Q6W4X9 MUC6_HUMAN mucin 6, oligomeric mucus/gel-forming 2010 Thr-rich. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent p.P2011S(1) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 80 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) GGTGGAGAAAGGTGGAACGTGAG 0.537 9 1388 --- --- --- --- RP13-395E19.3 0 broad.mit.edu 37 15 32695572 32695574 + RNA DEL AAT AAT - TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr15:32695572_32695574delAAT ENST00000562108.1 - 0 767 CCCATTGGTCAATGAGAAAGATG 0.581 3 5 --- --- --- --- TGM7 116179 broad.mit.edu 37 15 43579612 43579612 + Frame_Shift_Del DEL C C - TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr15:43579612delC ENST00000452443.2 - 6 735 c.731delG c.(730-732)gcfs p.G244fs NM_052955.2 NP_443187.1 Q96PF1 TGM7_HUMAN transglutaminase 7 244 peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1) 39 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;9.14e-07) L-Glutamine(DB00130) GTAGTCCTCGCCCCAGTTCCC 0.607 17 34 --- --- --- --- HAPLN3 145864 broad.mit.edu 37 15 89424690 89424691 + Frame_Shift_Del DEL GC GC - rs78894646 byFrequency TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr15:89424690_89424691delGC ENST00000359595.3 - 3 604_605 c.390_391delGC c.(388-393)tctgfs p.SL130fs HAPLN3_ENST00000562889.1_Frame_Shift_Del_p.SL192fs NM_178232.2 NP_839946.1 Q96S86 HPLN3_HUMAN hyaluronan and proteoglycan link protein 3 130 Ig-like V-type. cell adhesion proteinaceous extracellular matrix hyaluronic acid binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1) 17 Lung NSC(78;0.0392)|all_lung(78;0.077) TGGATCTCCAGCGAGACGTCAT 0.629 32 142 --- --- --- --- SYNRG 11276 broad.mit.edu 37 17 35896099 35896100 + Frame_Shift_Ins INS - - A TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr17:35896099_35896100insA ENST00000339208.6 - 19 3787_3788 c.3647_3648insT c.(3646-3648)atcfs p.I1216fs SYNRG_ENST00000591288.1_Frame_Shift_Ins_p.I1010fs|SYNRG_ENST00000585472.1_Frame_Shift_Ins_p.I1137fs|SYNRG_ENST00000502449.2_Frame_Shift_Ins_p.I1093fs|SYNRG_ENST00000394378.2_Frame_Shift_Ins_p.I1138fs|SYNRG_ENST00000345615.4_Frame_Shift_Ins_p.I1138fs|SYNRG_ENST00000346661.4_Frame_Shift_Ins_p.I1216fs NM_001163544.1|NM_001163545.1|NM_007247.4 NP_001157016.1|NP_001157017.1|NP_009178.3 Q9UMZ2 SYNRG_HUMAN synergin, gamma 1216 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 TGGCGAGTGACATGAAGCCGAT 0.460 9 63 --- --- --- --- FTL 2512 broad.mit.edu 37 19 49469858 49469861 + Frame_Shift_Del DEL ACTC ACTC - TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chr19:49469858_49469861delACTC ENST00000331825.6 + 4 601_604 c.394_397delACTC c.(394-399)acfs p.TH132fs NM_000146.3 NP_000137.2 P02792 FRIL_HUMAN ferritin, light polypeptide 132 Ferritin-like diiron. cell death|cellular iron ion homeostasis|cellular membrane organization|iron ion transport|post-Golgi vesicle-mediated transport cytosol|intracellular ferritin complex ferric iron binding|identical protein binding|oxidoreductase activity cervix(1)|kidney(3)|lung(5) 9 all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;0.000152)|all cancers(93;0.000435)|GBM - Glioblastoma multiforme(486;0.0171)|Epithelial(262;0.0267) Iron Dextran(DB00893) CTTCCTGGAGACTCACTTCCTAGA 0.525 60 157 --- --- --- --- CAPN6 827 broad.mit.edu 37 X 110490693 110490698 + In_Frame_Del DEL TCCTCC TCCTCC - TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chrX:110490693_110490698delTCCTCC ENST00000324068.1 - 12 1808_1813 c.1641_1646delGGAGGA c.(1639-1647)aaa>aa p.KEE547del CAPN6_ENST00000541758.1_In_Frame_Del_p.KEE292del NM_014289.3 NP_055104.2 Q9Y6Q1 CAN6_HUMAN calpain 6 547 C2. 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 AGAACGGACTTCCTCCTTTCCACATT 0.393 21 26 --- --- --- --- TBL1Y 90665 broad.mit.edu 37 Y 6948772 6948773 + Splice_Site INS - - C TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-11A-01D-2078-08 Untested Somatic Phase_I WXS none Illumina GAIIx 25a70d04-f533-4e60-b9fc-e74d600db296 269e1950-5b9e-4b06-9dbe-d809e280243b g.chrY:6948772_6948773insC ENST00000383032.1 + 14 1602_1603 c.e14-1 TBL1Y_ENST00000355162.2_Splice_Site|TBL1Y_ENST00000346432.3_Splice_Site NM_033284.1 NP_150600.1 Q9BQ87 TBL1Y_HUMAN transducin (beta)-like 1, Y-linked transcription, DNA-dependent kidney(1)|large_intestine(4)|lung(2)|skin(1) 8 CCCTGCTGCAGCCCCCGCCCTT 0.510 34 15 --- --- --- ---