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 CHEK1 1111 broad.mit.edu 37 11 125513987 125513987 + Splice_Site SNP G G A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr11:125513987G>A ENST00000534070.1 + 10 1180 c.925G>A c.(925-927)Gaa>Aaa p.E309K CHEK1_ENST00000428830.2_Splice_Site_p.E309K|CHEK1_ENST00000427383.2_Splice_Site_p.E325K|CHEK1_ENST00000524737.1_Splice_Site_p.E309K|CHEK1_ENST00000544373.1_Splice_Site_p.E309K|CHEK1_ENST00000278916.3_Splice_Site_p.E309K|CHEK1_ENST00000438015.1_Splice_Site_p.E309K|CHEK1_ENST00000532449.1_3'UTR NM_001274.5 NP_001265.2 O14757 CHK1_HUMAN checkpoint kinase 1 309 cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence condensed nuclear chromosome|microtubule organizing center|nucleoplasm ATP binding|protein binding|protein serine/threonine kinase activity central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1) 26 all_hematologic(175;0.228) Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748) ATGCCTCAGTGAAGAAAATGT 0.378000 Other conserved DNA damage response genes 38 26 0 0 1 0 0 NOTCH1 4851 broad.mit.edu 37 9 139399897 139399897 + Missense_Mutation SNP T T A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr9:139399897T>A ENST00000277541.6 - 25 4526 c.4451A>T c.(4450-4452)aAt>aTt p.N1484I NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 1484 aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) CCAGGGGTCATTGAAGTTGAG 0.622000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 9 36 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100686998 100686998 + Missense_Mutation SNP C C T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr7:100686998C>T ENST00000306151.4 + 3 12365 c.12301C>T c.(12301-12303)Cgg>Tgg p.R4101W NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 4101 extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) ACCCAGCACACGGACCACTTC 0.562000 28 102 0 0 1 0 0 FSTL3 10272 broad.mit.edu 37 19 681360 681360 + Missense_Mutation SNP G G A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr19:681360G>A ENST00000166139.4 + 4 565 c.533G>A c.(532-534)cGg>cAg p.R178Q FSTL3_ENST00000592947.1_3'UTR NM_005860.2 NP_005851.1 O95633 FSTL3_HUMAN follistatin-like 3 (secreted glycoprotein) 178 Follistatin-like 2. hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of osteoclast differentiation|ossification|positive regulation of cell-cell adhesion|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent extracellular space|nucleus activin binding|fibronectin binding all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GTGTGCCCGCGGCCACAGTCG 0.701000 T CCND1 B-CLL 6 11 0 0 1 0 0 PTPN9 5780 broad.mit.edu 37 15 75762295 75762295 + Missense_Mutation SNP G G T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr15:75762295G>T ENST00000306726.2 - 12 1917 c.1405C>A c.(1405-1407)Cca>Aca p.P469T NM_002833.2 NP_002824.1 P43378 PTN9_HUMAN protein tyrosine phosphatase, non-receptor type 9 469 Tyrosine-protein phosphatase. cytoplasmic part non-membrane spanning protein tyrosine phosphatase activity|protein binding central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 CCATAGTCTGGCCAGCTCAAG 0.507000 15 48 5.01169e-05 5.16543e-05 1 1 0 NTS 4922 broad.mit.edu 37 12 86272345 86272345 + Missense_Mutation SNP G G A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr12:86272345G>A ENST00000256010.6 + 3 465 c.358G>A c.(358-360)Gag>Aag p.E120K NTS_ENST00000551529.1_Intron NM_006183.4 NP_006174.1 P30990 NEUT_HUMAN neurotensin 120 regulation of blood vessel size|signal transduction extracellular region|soluble fraction|transport vesicle neuropeptide hormone activity large_intestine(2)|lung(6) 8 TCAACACTGGGAGGTATAGCA 0.333000 6 41 0 0 1 0 0 KBTBD3 143879 broad.mit.edu 37 11 105929784 105929784 + Missense_Mutation SNP C C T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr11:105929784C>T ENST00000526793.1 - 2 200 c.41G>A c.(40-42)cGa>cAa p.R14Q KBTBD3_ENST00000531482.2_Missense_Mutation_p.R14Q|KBTBD3_ENST00000531837.1_Missense_Mutation_p.R14Q|KBTBD3_ENST00000534815.1_Intron NM_152433.3 NP_689646.2 Q8NAB2 KBTB3_HUMAN kelch repeat and BTB (POZ) domain containing 3 10 NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1) 25 Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321) BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299) ACATGTGCTTCGTTGATTGAA 0.328000 4 35 0 0 1 0 0 PRR4 11272 broad.mit.edu 37 12 11000981 11000981 + Silent SNP G G A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr12:11000981G>A ENST00000228811.4 - 2 127 c.90C>T c.(88-90)ttC>ttT p.F30F PRR4_ENST00000536668.1_5'UTR|PRR4_ENST00000540107.1_Silent_p.F30F|PRR4_ENST00000544994.1_Silent_p.F30F NM_007244.2 NP_009175.2 Q16378 PROL4_HUMAN proline rich 4 (lacrimal) 30 visual perception extracellular space endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1) 9 CTGGTATGGTGAAAGTAAAGT 0.358000 15 15 0 0 1 0 0 PRSS38 339501 broad.mit.edu 37 1 228005156 228005156 + Silent SNP G G A rs139000968 by1000genomes TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr1:228005156G>A ENST00000366757.3 + 3 582 c.558G>A c.(556-558)acG>acA p.T186T NM_183062.2 NP_898885.1 A1L453 PRS38_HUMAN protease, serine, 38 186 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 GCTGGGCTACGGGATGGGGAC 0.527000 12 74 0 0 1 0 0 MAP3K1 4214 broad.mit.edu 37 5 56177590 56177590 + Missense_Mutation SNP C C T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr5:56177590C>T ENST00000399503.3 + 14 2563 c.2563C>T c.(2563-2565)Cgt>Tgt p.R855C NM_005921.1 NP_005912.1 Q13233 M3K1_HUMAN mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase 855 cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol ATP binding|zinc ion binding NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1) 57 Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223) OV - Ovarian serous cystadenocarcinoma(10;6.08e-40) GATGCGTCGCCGTTTGATGGC 0.478000 8 80 0 0 1 0 0 MORC1 27136 broad.mit.edu 37 3 108682322 108682322 + Missense_Mutation SNP G G C TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr3:108682322G>C ENST00000232603.5 - 27 2820 c.2738C>G c.(2737-2739)tCt>tGt p.S913C MORC1_ENST00000483760.1_Missense_Mutation_p.S892C NM_014429.3 NP_055244.3 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 913 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 CTTATCCTCAGAGATTTTTCT 0.343000 38 55 0 0 1 0 0 TPO 7173 broad.mit.edu 37 2 1497623 1497623 + Silent SNP C C T rs148782927 by1000genomes TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr2:1497623C>T ENST00000345913.4 + 11 1909 c.1818C>T c.(1816-1818)ccC>ccT p.P606P TPO_ENST00000497517.2_3'UTR|TPO_ENST00000382198.1_Silent_p.P433P|TPO_ENST00000349624.3_Silent_p.P433P|TPO_ENST00000346956.3_Silent_p.P606P|TPO_ENST00000329066.4_Silent_p.P606P|TPO_ENST00000382201.3_Silent_p.P549P|TPO_ENST00000337415.3_Silent_p.P606P NM_000547.5 NP_000538.3 P07202 PERT_HUMAN thyroid peroxidase 606 cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) TGGAGACCCCCGCTGACCTGA 0.577000 11 17 0 0 1 0 0 CAMK2A 815 broad.mit.edu 37 5 149618312 149618312 + Splice_Site SNP C C A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr5:149618312C>A ENST00000348628.6 - 14 1650 c.e14-1 CAMK2A_ENST00000351010.6_Splice_Site|CAMK2A_ENST00000398376.3_Splice_Site NM_015981.3|NM_171825.2 NP_057065.2|NP_741960.1 Q9UQM7 KCC2A_HUMAN calcium/calmodulin-dependent protein kinase II alpha interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|synaptic transmission cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1) 15 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CTGAGGATTCCTGCCAAAGAG 0.602000 3 16 1 1 1 1 0 DLC1 10395 broad.mit.edu 37 8 12957624 12957624 + Missense_Mutation SNP C C G TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr8:12957624C>G ENST00000276297.4 - 9 2631 c.2222G>C c.(2221-2223)aGc>aCc p.S741T DLC1_ENST00000512044.2_Missense_Mutation_p.S338T|DLC1_ENST00000520226.1_Missense_Mutation_p.S230T|DLC1_ENST00000358919.2_Missense_Mutation_p.S304T NM_182643.2 NP_872584.2 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 741 Poly-Ser. actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 110 GCTGCTGCTGCTGGTCTGCGT 0.627000 3 90 0 0 1 0 0 LGI2 55203 broad.mit.edu 37 4 25005321 25005321 + Missense_Mutation SNP C C A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr4:25005321C>A ENST00000382114.4 - 8 1575 c.1390G>T c.(1390-1392)Gcc>Tcc p.A464S NM_018176.3 NP_060646.2 Q8N0V4 LGI2_HUMAN leucine-rich repeat LGI family, member 2 464 extracellular region breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2) 33 Breast(46;0.173) AGGGTCATGGCCCCCCGGGAT 0.512000 27 146 3.00307e-07 3.19313e-07 1 1 0 CYP2A6 1548 broad.mit.edu 37 19 41354273 41354273 + Missense_Mutation SNP C C T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr19:41354273C>T ENST00000301141.5 - 4 525 c.505G>A c.(505-507)Gat>Aat p.D169N CTC-490E21.12_ENST00000601627.1_Intron NM_000762.5 NP_000753 P11509 CP2A6_HUMAN cytochrome P450, family 2, subfamily A, polypeptide 6 169 coumarin catabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|enzyme binding|heme binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(2) 37 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) Chlorzoxazone(DB00356)|Diethylstilbestrol(DB00255)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Formoterol(DB00983)|Halothane(DB01159)|Letrozole(DB01006)|Methoxsalen(DB00553)|Metyrapone(DB01011)|Nicotine(DB00184)|Pilocarpine(DB01085)|Tolbutamide(DB01124)|Tranylcypromine(DB00752) AAGGTGGGATCGATATTGGCG 0.542000 17 95 0 0 1 0 0 FZD3 7976 broad.mit.edu 37 8 28385479 28385479 + Missense_Mutation SNP G G T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr8:28385479G>T ENST00000240093.3 + 5 1680 c.1202G>T c.(1201-1203)cGa>cTa p.R401L FZD3_ENST00000537916.1_Missense_Mutation_p.R401L NM_017412.3 NP_059108.1 Q9NPG1 FZD3_HUMAN frizzled family receptor 3 401 canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|vasculature development apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1) 41 Ovarian(32;2.06e-05) KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23) AACAGAGTTCGAATTGAGATT 0.403000 82 83 1.17611e-34 1.32609e-34 1 1 0 DPY19L2P2 349152 broad.mit.edu 37 7 102825947 102825947 + RNA SNP A A G TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr7:102825947A>G ENST00000312132.4 - 0 3750 ACAGCTTGACACTTGCCATTG 0.373000 4 74 0 0 1 0 0 TP63 8626 broad.mit.edu 37 3 189455639 189455639 + Missense_Mutation SNP T T C TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr3:189455639T>C ENST00000264731.3 + 2 262 c.173T>C c.(172-174)aTc>aCc p.I58T TP63_ENST00000440651.2_Missense_Mutation_p.I58T|TP63_ENST00000392460.3_Missense_Mutation_p.I58T|TP63_ENST00000320472.5_Missense_Mutation_p.I58T|TP63_ENST00000382063.4_Missense_Mutation_p.I58T|TP63_ENST00000418709.2_Missense_Mutation_p.I58T NM_001114978.1|NM_003722.4 NP_001108450.1|NP_003713.3 Q9H3D4 P63_HUMAN tumor protein p63 58 Transcription activation. anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6) 61 all_cancers(143;3.35e-10)|Ovarian(172;0.0925) Lung(62;3.33e-05) GBM - Glioblastoma multiforme(93;0.0227) TTCCAGCATATCTGGGATTTT 0.403000 HNSCC(45;0.13) 14 51 0 0 1 0 0 SPECC1 92521 broad.mit.edu 37 17 20108086 20108086 + Missense_Mutation SNP G G A rs144644210 TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr17:20108086G>A ENST00000395530.2 + 2 689 c.481G>A c.(481-483)Gat>Aat p.D161N SPECC1_ENST00000395522.2_Missense_Mutation_p.D161N|SPECC1_ENST00000472876.1_Intron|SPECC1_ENST00000536879.1_Intron|SPECC1_ENST00000395525.3_Missense_Mutation_p.D161N|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000395527.4_Missense_Mutation_p.D242N|SPECC1_ENST00000395529.3_Missense_Mutation_p.D242N|SPECC1_ENST00000261503.5_Missense_Mutation_p.D242N NM_001033555.2 NP_001028727.1 Q5M775 CYTSB_HUMAN sperm antigen with calponin homology and coiled-coil domains 1 242 nucleus breast(1)|large_intestine(3)|ovary(4) 8 KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196) AGAGCTTTCCGATCTAGAGGA 0.498000 28 110 0 0 1 0 0 TOMM34 10953 broad.mit.edu 37 20 43572202 43572202 + Silent SNP G G A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr20:43572202G>A ENST00000372813.3 - 6 869 c.717C>T c.(715-717)gtC>gtT p.V239V PABPC1L_ENST00000490798.1_Intron|PABPC1L_ENST00000372819.1_Intron NM_006809.4 NP_006800.2 Q15785 TOM34_HUMAN translocase of outer mitochondrial membrane 34 239 protein targeting to mitochondrion integral to membrane|mitochondrial outer membrane heat shock protein binding|signal sequence binding breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1) 11 Myeloproliferative disorder(115;0.0122) ACTGCTTCAGGACCAAATAGC 0.502000 17 84 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110498987 110498987 + Missense_Mutation SNP G G A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr8:110498987G>A ENST00000378402.5 + 59 9921 c.9817G>A c.(9817-9819)Gag>Aag p.E3273K NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 3273 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) CGGTTGGTCTGAGGACTCTTT 0.423000 HNSCC(38;0.096) 59 336 0 0 1 0 0 NAV3 89795 broad.mit.edu 37 12 78360077 78360077 + Silent SNP T T C TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr12:78360077T>C ENST00000397909.2 + 4 656 c.483T>C c.(481-483)gcT>gcC p.A161A NAV3_ENST00000536525.2_Silent_p.A161A|NAV3_ENST00000266692.7_Silent_p.A161A|NAV3_ENST00000228327.6_Silent_p.A161A Q8IVL0 NAV3_HUMAN neuron navigator 3 161 CH. nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 GTCTATCTGCTGAAGGTAAGA 0.338000 HNSCC(70;0.22) 18 22 0 0 1 0 0 NBR1 4077 broad.mit.edu 37 17 41343528 41343528 + Missense_Mutation SNP A A T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr17:41343528A>T ENST00000422280.1 + 10 1462 c.1003A>T c.(1003-1005)Atc>Ttc p.I335F NBR1_ENST00000590996.1_Missense_Mutation_p.I335F|NBR1_ENST00000341165.6_Missense_Mutation_p.I335F|NBR1_ENST00000589872.1_Missense_Mutation_p.I335F|NBR1_ENST00000389312.4_Missense_Mutation_p.I335F|NBR1_ENST00000542611.1_Missense_Mutation_p.I314F NM_031858.2 NP_114064.1 Q14596 NBR1_HUMAN neighbor of BRCA1 gene 1 335 macroautophagy|protein oligomerization autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere ubiquitin binding|zinc ion binding NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 24 Breast(137;0.00086) BRCA - Breast invasive adenocarcinoma(366;0.0934) GTGGAATTCAATCCATGGACT 0.478000 3 11 0 0 1 0 0 RNF5 6048 broad.mit.edu 37 6 32146400 32146400 + Missense_Mutation SNP G G T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr6:32146400G>T ENST00000427134.2 + 1 127 c.112G>T c.(112-114)Gtg>Ttg p.V38L RNF5_ENST00000487940.1_3'UTR|RNF5_ENST00000375094.3_Missense_Mutation_p.V38L Q99942 RNF5_HUMAN ring finger protein 5, E3 ubiquitin protein ligase 38 ER-associated misfolded protein catabolic process|protein K48-linked ubiquitination|protein K63-linked ubiquitination endoplasmic reticulum membrane|integral to membrane|mitochondrial membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(1)|lung(7)|urinary_tract(2) 10 TCGGGAAGCTGTGGTCAGTGT 0.612000 29 97 1.57019e-19 1.71294e-19 1 1 0 PCDHGB1 56104 broad.mit.edu 37 5 140730581 140730581 + Missense_Mutation SNP G G A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr5:140730581G>A ENST00000523390.1 + 1 754 c.754G>A c.(754-756)Gta>Ata p.V252I PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron NM_018922.2|NM_032095.1 NP_061745.1|NP_115266.1 central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1) 16 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCAAGAAAACGTACCGTGGGG 0.522000 17 66 0 0 1 0 0 OR2T12 127064 broad.mit.edu 37 1 248458735 248458735 + Missense_Mutation SNP C C A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr1:248458735C>A ENST00000317996.1 - 1 145 c.146G>T c.(145-147)tGg>tTg p.W49L NM_001004692.1 NP_001004692.1 Q8NG77 O2T12_HUMAN olfactory receptor, family 2, subfamily T, member 12 49 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0201) CCGGTGGTCCCAGTGAATCAG 0.537000 22 36 1.67886e-27 1.86787e-27 1 1 0 GCNT2 2651 broad.mit.edu 37 6 10586259 10586259 + Missense_Mutation SNP C C G TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr6:10586259C>G ENST00000265012.4 + 1 281 c.37C>G c.(37-39)Ctg>Gtg p.L13V GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000316170.3_Intron NM_145655.3 NP_663630.2 Q8N0V5 GNT2A_HUMAN glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group) 14 Golgi membrane|integral to membrane N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2) 12 Ovarian(93;0.107)|Breast(50;0.148) all_hematologic(90;0.107) KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119) TGCTTTCACTCTGCTCAGCGT 0.403000 42 54 0 0 1 0 0 IFI44 10561 broad.mit.edu 37 1 79115948 79115948 + Missense_Mutation SNP G G A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr1:79115948G>A ENST00000370747.4 + 2 153 c.68G>A c.(67-69)cGg>cAg p.R23Q IFI44_ENST00000495254.1_Intron|IFI44_ENST00000545124.1_Intron NM_006417.4 NP_006408.3 Q8TCB0 IFI44_HUMAN interferon-induced protein 44 23 response to virus cytoplasm central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 21 GGAGGGAAGCGGCTTAGCCTT 0.403000 19 55 0 0 1 0 0 XIST 7503 broad.mit.edu 37 X 73066652 73066652 + RNA SNP A A G TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chrX:73066652A>G ENST00000429829.1 - 0 5936 NR_001564.2 AATTGTCATTAGGCACATTAA 0.423000 18 28 0 0 1 0 0 ATF7IP 55729 broad.mit.edu 37 12 14577646 14577646 + Missense_Mutation SNP C C T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr12:14577646C>T ENST00000544627.1 + 2 1141 c.821C>T c.(820-822)tCt>tTt p.S274F ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000261168.4_Missense_Mutation_p.S266F|ATF7IP_ENST00000536444.1_Missense_Mutation_p.S266F|ATF7IP_ENST00000543189.1_Missense_Mutation_p.S266F|ATF7IP_ENST00000540793.1_Missense_Mutation_p.S266F Q6VMQ6 MCAF1_HUMAN activating transcription factor 7 interacting protein 266 DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent protein binding cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1) 54 GAACTGGCCTCTGATGATCTG 0.483000 29 86 0 0 1 0 0 ABR 29 broad.mit.edu 37 17 1028677 1028677 + Translation_Start_Site SNP G G A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr17:1028677G>A ENST00000544583.2 - 0 548 ABR_ENST00000302538.5_Silent_p.Y29Y|ABR_ENST00000574437.1_De_novo_Start_OutOfFrame NM_001159746.2 NP_001153218.1 Q12979 ABR_HUMAN active BCR-related apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 UCEC - Uterine corpus endometrioid carcinoma (25;0.0228) CCTCTCCGTCGTACTCGTCCG 0.627000 44 142 0 0 1 0 0 IREB2 3658 broad.mit.edu 37 15 78790398 78790398 + Silent SNP C C T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr15:78790398C>T ENST00000258886.8 + 22 2954 c.2805C>T c.(2803-2805)agC>agT p.S935S NM_004136.2 NP_004127 P48200 IREB2_HUMAN iron-responsive element binding protein 2 935 4 iron, 4 sulfur cluster binding|metal ion binding|protein binding central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 41 UCEC - Uterine corpus endometrioid carcinoma (272;0.232) AAGTATTCAGCGTGATTGCTT 0.363000 5 53 0 0 1 0 0 PLEKHG1 57480 broad.mit.edu 37 6 151055093 151055093 + Silent SNP A A G TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr6:151055093A>G ENST00000367328.1 + 3 588 c.276A>G c.(274-276)agA>agG p.R92R PLEKHG1_ENST00000358517.2_Silent_p.R92R NM_001029884.1 NP_001025055.1 Q9ULL1 PKHG1_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 1 92 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3) 53 BRCA - Breast invasive adenocarcinoma(37;0.0923) OV - Ovarian serous cystadenocarcinoma(155;6.69e-13) CGCAGTGGAGAGTGGACTCAA 0.602000 5 31 0 0 1 0 0 SLC9A3 6550 broad.mit.edu 37 5 484634 484634 + Splice_Site SNP C C T rs144524702 TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr5:484634C>T ENST00000264938.3 - 5 942 c.e5+1 SLC9A3_ENST00000514375.1_Splice_Site NM_004174.2 NP_004165.2 P48764 SL9A3_HUMAN solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 cell surface|integral to membrane sodium:hydrogen antiporter activity NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1) 37 Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863) GAGGGACTCACGCGAGGATGG 0.642000 17 31 0 0 1 0 0 MAATS1 89876 broad.mit.edu 37 3 119445049 119445049 + Silent SNP G G A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr3:119445049G>A ENST00000273390.5 + 7 791 c.714G>A c.(712-714)gtG>gtA p.V238V NM_033364.3 NP_203528 MYCBP-associated, testis expressed 1 AAGCTGAGGTGGAGATGATAG 0.532000 14 28 0 0 1 0 0 AARD 441376 broad.mit.edu 37 8 117950663 117950663 + Nonsense_Mutation SNP C C T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr8:117950663C>T ENST00000378279.3 + 1 226 c.181C>T c.(181-183)Cga>Tga p.R61* NM_001025357.2 NP_001020528.1 Q4LEZ3 AARD_HUMAN alanine and arginine rich domain containing protein 61 Ala/Arg-rich. GGACCTCAGACGACGGCTGAC 0.746000 4 35 0 0 1 0 0 ADAMTS7 11173 broad.mit.edu 37 15 79060507 79060507 + Missense_Mutation SNP C C A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr15:79060507C>A ENST00000388820.4 - 17 2823 c.2613G>T c.(2611-2613)caG>caT p.Q871H ADAMTS7_ENST00000566303.1_5'UTR NM_014272.3 NP_055087.2 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 7 871 TSP type-1 2. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9) 54 TGCACTTCCTCTGTTGGTCAT 0.697000 7 18 5.18039e-06 5.37226e-06 1 1 0 CSMD3 114788 broad.mit.edu 37 8 113694839 113694839 + Missense_Mutation SNP G G A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr8:113694839G>A ENST00000297405.5 - 16 2753 c.2509C>T c.(2509-2511)Cct>Tct p.P837S CSMD3_ENST00000455883.2_Missense_Mutation_p.P733S|CSMD3_ENST00000352409.3_Missense_Mutation_p.P837S|CSMD3_ENST00000343508.3_Missense_Mutation_p.P797S NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 837 Sushi 4. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 GGTATTCCAGGATCAGGGCAT 0.358000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 15 164 0 0 1 0 0 MROH5 389690 broad.mit.edu 37 8 142481169 142481169 + RNA SNP C C G TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr8:142481169C>G ENST00000430863.1 - 0 2072 NM_207414.2 NP_997297.2 maestro heat-like repeat family member 5 TGTGGCACATCAAGAGCTGGT 0.592000 77 338 0 0 1 0 0 ITPR1 3708 broad.mit.edu 37 3 4687373 4687373 + Silent SNP C C A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr3:4687373C>A ENST00000302640.8 + 10 1166 c.816C>A c.(814-816)gcC>gcA p.A272A ITPR1_ENST00000423119.2_Silent_p.A272A|ITPR1_ENST00000357086.4_Silent_p.A272A|ITPR1_ENST00000456211.2_Silent_p.A272A|ITPR1_ENST00000544951.1_Silent_p.A272A|ITPR1_ENST00000443694.2_Silent_p.A272A|ITPR1_ENST00000354582.6_Silent_p.A272A NM_001168272.1 NP_001161744.1 Q14643 ITPR1_HUMAN inositol 1,4,5-trisphosphate receptor, type 1 272 MIR 3. activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2) 106 Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982) GGCAGTCGGCCACATCTGCCA 0.552000 3 43 1 1 1 1 0 ASCC3 10973 broad.mit.edu 37 6 101307003 101307003 + Missense_Mutation SNP C C T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr6:101307003C>T ENST00000369143.2 - 4 608 c.317G>A c.(316-318)aGa>aAa p.R106K ASCC3_ENST00000522650.1_Intron|ASCC3_ENST00000369162.2_Intron NM_022091.3 NP_071374.1 Q8N3C0 HELC1_HUMAN activating signal cointegrator 1 complex subunit 3 0 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton ATP binding|ATP-dependent helicase activity|nucleic acid binding breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 92 all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199) tcctctgaatctgtcagaagc 0.353000 9 37 0 0 1 0 0 TBC1D1 23216 broad.mit.edu 37 4 38016441 38016441 + Silent SNP G G A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr4:38016441G>A ENST00000261439.4 + 3 1084 c.729G>A c.(727-729)tcG>tcA p.S243S TBC1D1_ENST00000508802.1_Silent_p.S243S NM_001253914.1|NM_001253915.1|NM_015173.3 NP_001240843.1|NP_001240844.1|NP_055988.2 Q86TI0 TBCD1_HUMAN TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1 243 nucleus Rab GTPase activator activity NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1) 36 GCCTGCGCTCGCTGGCCTTTA 0.672000 7 7 0 0 1 0 0 MTMR7 9108 broad.mit.edu 37 8 17157445 17157445 + Missense_Mutation SNP C C T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr8:17157445C>T ENST00000180173.5 - 14 1943 c.1909G>A c.(1909-1911)Ggt>Agt p.G637S VPS37A_ENST00000521162.1_3'UTR|MTMR7_ENST00000398099.3_Missense_Mutation_p.G228S NM_004686.4 NP_004677.3 Q9Y216 MTMR7_HUMAN myotubularin related protein 7 637 protein tyrosine phosphatase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1) 32 Colorectal(111;0.112) TGCTCACCACCACTTGGAGAC 0.498000 70 66 0 0 1 0 0 RUSC2 9853 broad.mit.edu 37 9 35547012 35547012 + Missense_Mutation SNP G G A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr9:35547012G>A ENST00000455600.1 + 2 1063 c.494G>A c.(493-495)cGg>cAg p.R165Q RUSC2_ENST00000468041.1_3'UTR NM_001135999.1 NP_001129471 Q8N2Y8 RUSC2_HUMAN RUN and SH3 domain containing 2 165 cytosol NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194) ACACGCAGTCGGGCTGGAGTG 0.622000 22 69 0 0 1 0 0 SFXN4 119559 broad.mit.edu 37 10 120925084 120925084 + Nonsense_Mutation SNP C C A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr10:120925084C>A ENST00000355697.2 - 1 95 c.76G>T c.(76-78)Gag>Tag p.E26* SFXN4_ENST00000461438.1_5'UTR|SFXN4_ENST00000330036.6_Nonsense_Mutation_p.E26* NM_213649.1 NP_998814.1 Q6P4A7 SFXN4_HUMAN sideroflexin 4 26 iron ion homeostasis integral to membrane|mitochondrial membrane cation transmembrane transporter activity central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 11 Lung NSC(174;0.094)|all_lung(145;0.123) all cancers(201;0.0261) ACGTTGGGCTCAATGAAGGCG 0.701000 12 26 4.3838e-07 4.60299e-07 1 1 0 LEMD2 221496 broad.mit.edu 37 6 33740447 33740447 + Missense_Mutation SNP C C G TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr6:33740447C>G ENST00000293760.5 - 9 1489 c.1470G>C c.(1468-1470)tgG>tgC p.W490C LEMD2_ENST00000508327.1_Missense_Mutation_p.W188C NM_181336.3 NP_851853.1 Q8NC56 LEMD2_HUMAN LEM domain containing 2 490 integral to nuclear inner membrane central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1) 9 TAGTCCATCTCCACACCAGCA 0.622000 35 37 0 0 1 0 0 KRT7 3855 broad.mit.edu 37 12 52627328 52627328 + Missense_Mutation SNP C C G TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr12:52627328C>G ENST00000331817.5 + 1 431 c.248C>G c.(247-249)tCc>tGc p.S83C NM_005556.3 NP_005547.3 P08729 K2C7_HUMAN keratin 7 83 Head. SL -> FS (in Ref. 3; CAB41416). cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation Golgi apparatus|keratin filament|nucleus protein binding|structural molecule activity endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1) 14 BRCA - Breast invasive adenocarcinoma(357;0.105) GCCGACCCCTCCCTCCAGCGG 0.677000 16 64 0 0 1 0 0 LAMA2 3908 broad.mit.edu 37 6 129380937 129380937 + Missense_Mutation SNP C C T rs140199131 TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr6:129380937C>T ENST00000421865.2 + 3 341 c.292C>T c.(292-294)Ccg>Tcg p.P98S NM_000426.3|NM_001079823.1 NP_000417|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 98 Laminin N-terminal. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) AGAGAGACACCCGATTACAAA 0.328000 9 44 0 0 1 0 0 ARID1A 8289 broad.mit.edu 37 1 27100375 27100375 + Nonsense_Mutation SNP C C T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr1:27100375C>T ENST00000324856.7 + 17 4458 c.4087C>T c.(4087-4089)Caa>Taa p.Q1363* ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q1363*|ARID1A_ENST00000540690.1_5'UTR|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q980* NM_006015.4 NP_006006.3 O14497 ARI1A_HUMAN AT rich interactive domain 1A (SWI-like) 1363 Gln-rich. androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) TACAATGTATCAACAGCAACA 0.488000 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" 121 96 0 0 1 0 0 PRCP 5547 broad.mit.edu 37 11 82611320 82611320 + Missense_Mutation SNP G G C TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr11:82611320G>C ENST00000313010.3 - 1 319 c.125C>G c.(124-126)cCg>cGg p.P42R PRCP_ENST00000535099.1_Intron|PRCP_ENST00000393399.2_Missense_Mutation_p.P42R NM_005040.2 NP_005031.1 P42785 PCP_HUMAN prolylcarboxypeptidase (angiotensinase C) 42 blood coagulation, intrinsic pathway|proteolysis lysosome|plasma membrane protein binding|serine-type carboxypeptidase activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1) 17 GGCTACAGCCGGGAGGGATGT 0.637000 13 85 0 0 1 0 0 MYH6 4624 broad.mit.edu 37 14 23866174 23866174 + Missense_Mutation SNP C C A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr14:23866174C>A ENST00000405093.3 - 18 2236 c.2166G>T c.(2164-2166)caG>caT p.Q722H MYH6_ENST00000356287.3_Missense_Mutation_p.Q722H NM_002471.3 NP_002462.2 P13533 MYH6_HUMAN myosin, heavy chain 6, cardiac muscle, alpha 722 Myosin head-like. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) ATACCCACCTCTGCCGGAAGT 0.627000 22 60 8.88839e-20 9.7598e-20 1 1 0 KIAA0319 9856 broad.mit.edu 37 6 24596319 24596319 + Missense_Mutation SNP A A G TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr6:24596319A>G ENST00000535378.1 - 4 1198 c.556T>C c.(556-558)Ttc>Ctc p.F186L KIAA0319_ENST00000543707.1_Missense_Mutation_p.F195L|KIAA0319_ENST00000378214.3_Missense_Mutation_p.F195L|KIAA0319_ENST00000430948.2_Missense_Mutation_p.F150L|KIAA0319_ENST00000537886.1_Missense_Mutation_p.F195L NM_001168374.1 NP_001161846.1 Q5VV43 K0319_HUMAN KIAA0319 195 negative regulation of dendrite development|neuron migration early endosome membrane|integral to membrane|plasma membrane protein binding breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 53 GAGGAGTTGAAGGCCCCCTCG 0.632000 13 23 0 0 1 0 0 CYP3A7 1551 broad.mit.edu 37 7 99314836 99314836 + Missense_Mutation SNP C C T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr7:99314836C>T ENST00000336374.2 - 6 487 c.485G>A c.(484-486)cGg>cAg p.R162Q NM_000765.3 NP_000756.2 P24462 CP3A7_HUMAN cytochrome P450, family 3, subfamily A, polypeptide 7 162 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 32 Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228) CTCTGCTTCCCGCCTCAGATT 0.502000 26 104 0 0 1 0 0 CRMP1 1400 broad.mit.edu 37 4 5837699 5837699 + Silent SNP G G A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr4:5837699G>A ENST00000324989.7 - 11 1654 c.1566C>T c.(1564-1566)gaC>gaT p.D522D CRMP1_ENST00000512574.1_Silent_p.D406D|CRMP1_ENST00000397890.2_Silent_p.D408D|CRMP1_ENST00000511535.1_5'UTR NM_001014809.1 NP_001014809.1 Q14194 DPYL1_HUMAN collapsin response mediator protein 1 408 axon guidance|pyrimidine base catabolic process cytosol|microtubule organizing center|spindle dihydropyrimidinase activity|protein binding NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 36 Colorectal(103;0.0721) AGATGACCACGTCGGCATCCG 0.517000 33 84 0 0 1 0 0 CCDC78 124093 broad.mit.edu 37 16 775266 775266 + Missense_Mutation SNP C C T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr16:775266C>T ENST00000293889.6 - 5 568 c.463G>A c.(463-465)Gag>Aag p.E155K NM_001031737.2 NP_001026907.2 A2IDD5 CCD78_HUMAN coiled-coil domain containing 78 155 central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(2)|skin(3) 9 Hepatocellular(780;0.0218) TGCTCATTCTCGGGGTTCATG 0.627000 22 108 0 0 1 0 0 NOL8 55035 broad.mit.edu 37 9 95081520 95081520 + Missense_Mutation SNP C C T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr9:95081520C>T ENST00000545558.1 - 5 892 c.400G>A c.(400-402)Gaa>Aaa p.E134K NOL8_ENST00000442668.2_Missense_Mutation_p.E134K|NOL8_ENST00000542053.1_Missense_Mutation_p.E66K|NOL8_ENST00000535387.1_Missense_Mutation_p.E134K|NOL8_ENST00000358855.4_Missense_Mutation_p.E66K Q76FK4 NOL8_HUMAN nucleolar protein 8 134 DNA replication|positive regulation of cell growth nucleolus nucleotide binding|protein binding|RNA binding endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1) 16 CCTGGCACTTCTGTCCCTGGC 0.463000 12 30 0 0 1 0 0 C11orf16 56673 broad.mit.edu 37 11 8947502 8947502 + Missense_Mutation SNP G G A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr11:8947502G>A ENST00000326053.5 - 5 818 c.712C>T c.(712-714)Cac>Tac p.H238Y C11orf16_ENST00000525780.1_Missense_Mutation_p.H238Y NM_020643.2 NP_065694.2 Q9NQ32 CK016_HUMAN chromosome 11 open reading frame 16 238 central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1) 22 Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234) GGGGCCCAGTGAAGGGGCCTG 0.607000 10 88 0 0 1 0 0 OR2T12 127064 broad.mit.edu 37 1 248458734 248458734 + Missense_Mutation SNP C C A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr1:248458734C>A ENST00000317996.1 - 1 146 c.147G>T c.(145-147)tgG>tgT p.W49C NM_001004692.1 NP_001004692.1 Q8NG77 O2T12_HUMAN olfactory receptor, family 2, subfamily T, member 12 49 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0201) GCCGGTGGTCCCAGTGAATCA 0.537000 22 33 8.44121e-28 9.45415e-28 1 1 0 CD97 976 broad.mit.edu 37 19 14512345 14512345 + Missense_Mutation SNP C C T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr19:14512345C>T ENST00000242786.5 + 10 1125 c.1045C>T c.(1045-1047)Ccc>Tcc p.P349S CD97_ENST00000357355.3_Missense_Mutation_p.P300S|CD97_ENST00000358600.3_Missense_Mutation_p.P256S NM_078481.3 NP_510966.1 P48960 CD97_HUMAN CD97 molecule 349 cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway extracellular space|integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 GCCTAAAGGCCCCTTCACCTA 0.612000 11 71 0 0 1 0 0 CREBBP 1387 broad.mit.edu 37 16 3779153 3779153 + Silent SNP C C T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr16:3779153C>T ENST00000262367.5 - 31 6704 c.5895G>A c.(5893-5895)gaG>gaA p.E1965E CREBBP_ENST00000382070.3_Silent_p.E1927E NM_004380.2 NP_004371.2 Q92793 CBP_HUMAN CREB binding protein 1965 cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia cytoplasm|nuclear body histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21) 295 Ovarian(90;0.0266) OV - Ovarian serous cystadenocarcinoma(1;3.54e-05) GCTGCTGGGCCTCACGCTCGA 0.711000 """T, N, F, Mis, O""" """MLL, MORF, RUNXBP2""" """ALL, AML, DLBCL, B-NHL """ Rubinstein-Taybi syndrome 3 6 0 0 1 0 0 ZNF728 388523 broad.mit.edu 37 19 23170128 23170128 + Missense_Mutation SNP G G C TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr19:23170128G>C ENST00000594710.1 - 3 353 c.208C>G c.(208-210)Ctg>Gtg p.L70V NM_001267716.1 NP_001254645.1 zinc finger protein 728 TCTTTCACCAGCTCATGTCTC 0.438000 16 53 0 0 1 0 0 WASH2P 375260 broad.mit.edu 37 2 114356313 114356313 + RNA SNP C C A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr2:114356313C>A ENST00000538033.2 + 0 2493 GACTGGGAATCCTAGGGGGCT 0.647000 3 27 1 1 1 1 0 KDM3B 51780 broad.mit.edu 37 5 137761242 137761242 + Missense_Mutation SNP A A G TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr5:137761242A>G ENST00000314358.5 + 17 4582 c.4382A>G c.(4381-4383)gAt>gGt p.D1461G KDM3B_ENST00000542866.1_Missense_Mutation_p.D493G|KDM3B_ENST00000394866.1_Missense_Mutation_p.D1117G NM_016604.3 NP_057688 Q7LBC6 KDM3B_HUMAN lysine (K)-specific demethylase 3B 1461 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 65 AAAGTTCGGGATTTCTGGGAT 0.453000 51 43 0 0 1 0 0 PDGFRA 5156 broad.mit.edu 37 4 55140704 55140704 + Missense_Mutation SNP G G A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr4:55140704G>A ENST00000257290.5 + 11 1896 c.1565G>A c.(1564-1566)cGt>cAt p.R522H FIP1L1_ENST00000507166.1_Intron NM_006206.4 NP_006197.1 P16234 PGFRA_HUMAN platelet-derived growth factor receptor, alpha polypeptide 522 cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1) 967 all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08) GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256) Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268) GTAGCCCTGCGTTCTGAACTC 0.498000 """Mis, O, T""" FIP1L1 """GIST, idiopathic hypereosinophilic syndrome, paediatric GBM""" Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis TSP Lung(21;0.16) 27 83 0 0 1 0 0 ROR1 4919 broad.mit.edu 37 1 64643579 64643579 + Missense_Mutation SNP C C T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr1:64643579C>T ENST00000371079.1 + 9 2230 c.1855C>T c.(1855-1857)Cgc>Tgc p.R619C ROR1_ENST00000545203.1_Missense_Mutation_p.R70C NM_005012.3 NP_005003.2 Q01973 ROR1_HUMAN receptor tyrosine kinase-like orphan receptor 1 619 Protein kinase. transmembrane receptor protein tyrosine kinase signaling pathway cytoplasm|integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 51 CCTTGCAGCTCGCAATATTTT 0.453000 13 28 0 0 1 0 0 SORBS2 8470 broad.mit.edu 37 4 186545479 186545479 + Silent SNP G G A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr4:186545479G>A ENST00000431808.1 - 14 1655 c.1092C>T c.(1090-1092)aaC>aaT p.N364N SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000355634.5_Silent_p.N464N|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000284776.7_Silent_p.N364N|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000418609.1_Silent_p.N268N|SORBS2_ENST00000448662.2_Intron O94875 SRBS2_HUMAN sorbin and SH3 domain containing 2 364 actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1) 53 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) AGATTTCTGCGTTTTGCCGGG 0.517000 3 55 0 0 1 0 0 KL 9365 broad.mit.edu 37 13 33635874 33635874 + Silent SNP G G A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr13:33635874G>A ENST00000380099.3 + 4 2666 c.2658G>A c.(2656-2658)ctG>ctA p.L886L KL_ENST00000487852.1_3'UTR NM_004795.3 NP_004786.2 Q9UEF7 KLOT_HUMAN klotho 886 Glycosyl hydrolase-1 2. aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5) 41 all_epithelial(80;0.133) Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05) ACGACCAGCTGAGGGTGTATT 0.488000 18 67 0 0 1 0 0 NIN 51199 broad.mit.edu 37 14 51210232 51210232 + Missense_Mutation SNP G G C TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr14:51210232G>C ENST00000245441.5 - 24 5393 c.5203C>G c.(5203-5205)Ctt>Gtt p.L1735V NIN_ENST00000324330.9_Missense_Mutation_p.L1735V|NIN_ENST00000453196.1_Missense_Mutation_p.L1735V|NIN_ENST00000530997.2_Missense_Mutation_p.L1735V|NIN_ENST00000389868.3_Missense_Mutation_p.L1022V|NIN_ENST00000382043.4_Missense_Mutation_p.L1022V|NIN_ENST00000382041.3_Missense_Mutation_p.L1735V NM_020921.3 NP_065972 Q8N4C6 NIN_HUMAN ninein (GSK3B interacting protein) 1735 centrosome localization centrosome|microtubule calcium ion binding|GTP binding|protein binding breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 71 all_epithelial(31;0.00244)|Breast(41;0.127) TGCTCTAAAAGACTTGATTTT 0.423000 T PDGFRB MPD 10 21 0 0 1 0 0 PARK2 5071 broad.mit.edu 37 6 162864342 162864342 + Splice_Site SNP C C T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr6:162864342C>T ENST00000366898.1 - 2 273 c.171G>A c.(169-171)caG>caA p.Q57Q PARK2_ENST00000366897.1_Splice_Site_p.Q57Q|PARK2_ENST00000366892.1_Splice_Site_p.Q57Q|PARK2_ENST00000366896.1_Splice_Site_p.Q57Q|PARK2_ENST00000338468.3_5'UTR|PARK2_ENST00000366894.1_5'UTR NM_004562.2 NP_004553.2 O60260 PRKN2_HUMAN parkin RBR E3 ubiquitin protein ligase 57 Ubiquitin-like. aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 39 all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102) UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046) GGAGACTCACCTGCACAGTCC 0.567000 15 53 0 0 1 0 0 DPY19L2P2 349152 broad.mit.edu 37 7 102825946 102825946 + RNA SNP C C T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr7:102825946C>T ENST00000312132.4 - 0 3751 GACAGCTTGACACTTGCCATT 0.373000 4 75 0 0 1 0 0 XAGE5 170627 broad.mit.edu 37 X 52844174 52844174 + Silent SNP C C T rs146352090 TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chrX:52844174C>T ENST00000351072.1 + 4 303 c.237C>T c.(235-237)tgC>tgT p.C79C XAGE5_ENST00000375501.1_Silent_p.C79C|XAGE5_ENST00000425386.1_Silent_p.C79C|XAGE5_ENST00000375503.3_3'UTR|XAGE5_ENST00000445860.2_3'UTR Q8WWM1 GAGD5_HUMAN X antigen family, member 5 79 endometrium(1)|large_intestine(1)|lung(5)|ovary(1) 8 GGGATGAATGCGGAGATAGTC 0.438000 26 47 0 0 1 0 0 UBBP4 23666 broad.mit.edu 37 17 21730847 21730847 + Missense_Mutation SNP G G T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr17:21730847G>T ENST00000584755.1 + 2 546 c.149G>T c.(148-150)cGg>cTg p.R50L UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000578713.1_Missense_Mutation_p.R50L|UBBP4_ENST00000584398.1_Intron endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 GGCAAGCAGCGGGAAGATGGC 0.522000 4 48 0.150653 0.153393 1 1 0 ZNF534 147658 broad.mit.edu 37 19 52954586 52954586 + Missense_Mutation SNP G G A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr19:52954586G>A ENST00000301085.4 + 5 543 c.418G>A c.(418-420)Gtt>Att p.V140I ZNF534_ENST00000432303.2_Missense_Mutation_p.V97I Q76KX8 ZN534_HUMAN zinc finger protein 534 0 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|lung(1)|prostate(1)|skin(1) 4 ATTTCCTTCCGTTTCTGCTTC 0.682000 4 8 0 0 1 0 0 ADAMTS10 81794 broad.mit.edu 37 19 8665902 8665902 + Silent SNP G G A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr19:8665902G>A ENST00000270328.4 - 5 986 c.720C>T c.(718-720)taC>taT p.Y240Y ADAMTS10_ENST00000596709.1_5'UTR|ADAMTS10_ENST00000597188.1_Silent_p.Y240Y Q9H324 ATS10_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 10 240 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1) 53 GGGTCTCCACGTAGCGCTCTC 0.622000 35 104 0 0 1 0 0 FAM135A 57579 broad.mit.edu 37 6 71234834 71234834 + Nonsense_Mutation SNP C C T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr6:71234834C>T ENST00000418814.2 + 15 2661 c.2047C>T c.(2047-2049)Cga>Tga p.R683* FAM135A_ENST00000505769.1_Nonsense_Mutation_p.R487*|FAM135A_ENST00000457062.2_Nonsense_Mutation_p.R470*|FAM135A_ENST00000505868.1_Nonsense_Mutation_p.R683*|FAM135A_ENST00000370479.3_Nonsense_Mutation_p.R470*|FAM135A_ENST00000361499.3_Nonsense_Mutation_p.R487* NM_001105531.2|NM_001162529.1 NP_001099001.1|NP_001156001.1 Q9P2D6 F135A_HUMAN family with sequence similarity 135, member A 683 breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 38 GACAGAGCTTCGACAAGAGGA 0.353000 34 42 0 0 1 0 0 AASS 10157 broad.mit.edu 37 7 121741434 121741434 + Missense_Mutation SNP C C T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr7:121741434C>T ENST00000393376.1 - 12 1492 c.1397G>A c.(1396-1398)cGg>cAg p.R466Q AASS_ENST00000417368.2_Missense_Mutation_p.R466Q|AASS_ENST00000473553.1_5'UTR Q9UDR5 AASS_HUMAN aminoadipate-semialdehyde synthase 466 protein tetramerization mitochondrial matrix binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 54 L-Glutamic Acid(DB00142)|NADH(DB00157) CCTGCTCTCCCGGAGTGTCTG 0.318000 17 59 0 0 1 0 0 NUP210 23225 broad.mit.edu 37 3 13376966 13376966 + Silent SNP C C T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr3:13376966C>T ENST00000254508.5 - 28 3913 c.3831G>A c.(3829-3831)gaG>gaA p.E1277E NM_024923.2 NP_079199.2 Q8TEM1 PO210_HUMAN nucleoporin 210kDa 1277 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_neural(104;0.187) GGACTTGGATCTCATCCGAGA 0.627000 25 184 0 0 1 0 0 VPS13B 157680 broad.mit.edu 37 8 100865842 100865842 + Missense_Mutation SNP G G A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr8:100865842G>A ENST00000358544.2 + 56 10411 c.10300G>A c.(10300-10302)Gag>Aag p.E3434K VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.E3409K NM_017890.4 NP_060360.3 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 3434 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) CCCTGGGGAAGAGCCTGTGGC 0.527000 45 58 0 0 1 0 0 FAM19A1 407738 broad.mit.edu 37 3 68466476 68466476 + Silent SNP G G A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr3:68466476G>A ENST00000478136.1 + 3 655 c.165G>A c.(163-165)aaG>aaA p.K55K FAM19A1_ENST00000496687.1_Silent_p.K55K|FAM19A1_ENST00000491017.1_3'UTR NM_213609.3 NP_998774.2 Q7Z5A9 F19A1_HUMAN family with sequence similarity 19 (chemokine (C-C motif)-like), member A1 55 endoplasmic reticulum|extracellular region central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1) 7 Lung NSC(201;0.0117) BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743) GTTGTAACAAGAATCGCATTG 0.468000 27 41 0 0 1 0 0 TPP2 7174 broad.mit.edu 37 13 103326724 103326724 + Missense_Mutation SNP G G A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr13:103326724G>A ENST00000376052.3 + 28 3479 c.3463G>A c.(3463-3465)Gac>Aac p.D1155N TPP2_ENST00000376065.4_Missense_Mutation_p.D1142N|TPP2_ENST00000466153.1_3'UTR P29144 TPP2_HUMAN tripeptidyl peptidase II 1142 proteolysis cytoplasm|nucleus aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 52 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) CCAGGCTCAAGACGGAGCCAT 0.478000 24 39 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 8996396 8996396 + Missense_Mutation SNP C C G TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr19:8996396C>G ENST00000397910.4 - 61 41379 c.41176G>C c.(41176-41178)Gag>Cag p.E13726Q MUC16_ENST00000380951.5_Missense_Mutation_p.E367Q NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 13728 SEA 11. Missing (in Ref. 3; AAK74120). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TGGCTCAGCTCCCAATACAGC 0.567000 54 108 0 0 1 0 0 PCDHGA8 9708 broad.mit.edu 37 5 140774130 140774130 + Missense_Mutation SNP C C T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr5:140774130C>T ENST00000398604.2 + 1 1750 c.1750C>T c.(1750-1752)Cgt>Tgt p.R584C PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron NM_032088.1 NP_114477.1 endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 51 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCCGCAGAGCGTGGCTACCT 0.672000 47 146 0 0 1 0 0 NUP210 23225 broad.mit.edu 37 3 13377029 13377029 + Silent SNP C C T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr3:13377029C>T ENST00000254508.5 - 28 3850 c.3768G>A c.(3766-3768)gtG>gtA p.V1256V NM_024923.2 NP_079199.2 Q8TEM1 PO210_HUMAN nucleoporin 210kDa 1256 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_neural(104;0.187) CAGCCTTGACCACCACCCTCA 0.602000 8 112 0 0 1 0 0 B3GALT4 8705 broad.mit.edu 37 6 33245984 33245984 + Nonsense_Mutation SNP C C A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr6:33245984C>A ENST00000451237.1 + 1 1068 c.788C>A c.(787-789)tCa>tAa p.S263* NM_003782.3 NP_003773.1 O96024 B3GT4_HUMAN UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 4 263 protein glycosylation Golgi membrane|integral to membrane ganglioside galactosyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|urinary_tract(2) 13 CCCTATGCCTCAGGCACGGGG 0.637000 30 39 2.47511e-08 2.6655e-08 1 1 0 DCC 1630 broad.mit.edu 37 18 50731606 50731606 + Missense_Mutation SNP G G A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr18:50731606G>A ENST00000442544.2 + 10 2210 c.1594G>A c.(1594-1596)Gaa>Aaa p.E532K DCC_ENST00000412726.1_Missense_Mutation_p.E380K|DCC_ENST00000581580.1_Missense_Mutation_p.E187K NM_005215.3 NP_005206.2 P43146 DCC_HUMAN deleted in colorectal carcinoma 532 Fibronectin type-III 2. apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6) 148 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) AGGGCCAGTAGAAAACCTGCA 0.388000 47 163 0 0 1 0 0 ZNF414 84330 broad.mit.edu 37 19 8576365 8576365 + Silent SNP C C T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr19:8576365C>T ENST00000255616.8 - 6 1031 c.930G>A c.(928-930)gcG>gcA p.A310A ZNF414_ENST00000393927.4_Intron NM_032370.2 NP_115746.2 Q96IQ9 ZN414_HUMAN zinc finger protein 414 310 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding lung(2) 2 GTCACCTGCACGCACCTGAGG 0.687000 10 21 0 0 1 0 0 CLCN4 1183 broad.mit.edu 37 X 10188760 10188760 + Missense_Mutation SNP G G A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chrX:10188760G>A ENST00000380833.4 + 12 2426 c.2035G>A c.(2035-2037)Gaa>Aaa p.E679K CLCN4_ENST00000421085.2_Missense_Mutation_p.E585K|CLCN4_ENST00000380829.1_Missense_Mutation_p.E648K NM_001256944.1|NM_001830.3 NP_001243873.1|NP_001821.2 P51793 CLCN4_HUMAN chloride channel, voltage-sensitive 4 679 early endosome membrane|integral to membrane|late endosome membrane antiporter activity|ATP binding|voltage-gated chloride channel activity breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 CTTCACGGAGGAACCCCCCGA 0.567000 109 35 0 0 1 0 0 HIST1H1E 3008 broad.mit.edu 37 6 26156830 26156830 + Missense_Mutation SNP A A G TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr6:26156830A>G ENST00000304218.3 + 1 272 c.212A>G c.(211-213)tAt>tGt p.Y71C NM_005321.2 NP_005312.1 P10412 H14_HUMAN histone cluster 1, H1e 71 H15. nucleosome assembly nucleosome|nucleus DNA binding|protein binding NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 26 GCCGCTGGCTATGACGTGGAG 0.627000 15 30 0 0 1 0 0 ALDH8A1 64577 broad.mit.edu 37 6 135263702 135263702 + Splice_Site SNP C C T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr6:135263702C>T ENST00000265605.2 - 3 355 c.287G>A c.(286-288)gGg>gAg p.G96E ALDH8A1_ENST00000367845.2_Splice_Site_p.G96E|ALDH8A1_ENST00000367847.2_Splice_Site_p.G96E NM_022568.3 NP_072090.1 Q9H2A2 AL8A1_HUMAN aldehyde dehydrogenase 8 family, member A1 96 retinal metabolic process cytoplasm retinal dehydrogenase activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2) 36 Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058) TAAGGTTTTCCCTGTAAGAAG 0.522000 18 573 0 0 1 0 0 CGNL1 84952 broad.mit.edu 37 15 57730261 57730261 + Missense_Mutation SNP G G A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr15:57730261G>A ENST00000281282.5 + 2 142 c.64G>A c.(64-66)Gca>Aca p.A22T NM_001252335.1|NM_032866.4 NP_001239264.1|NP_116255.2 Q0VF96 CGNL1_HUMAN cingulin-like 1 22 Head. myosin complex|tight junction motor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1) 60 all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186) TCTGAGACTCGCAAGTGATGA 0.493000 70 179 0 0 1 0 0 HCAR2 338442 broad.mit.edu 37 12 123186957 123186957 + Missense_Mutation SNP C C T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr12:123186957C>T ENST00000328880.5 - 1 933 c.874G>A c.(874-876)Gtg>Atg p.V292M HCAR1_ENST00000356987.2_Intron|RP11-324E6.6_ENST00000543611.1_lincRNA NM_177551.3 NP_808219.1 Q8TDS4 HCAR2_HUMAN hydroxycarboxylic acid receptor 2 292 negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis integral to membrane|plasma membrane nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 15 Mepenzolate(DB04843)|Niacin(DB00627) TAGTACACCACGGGGTCCAGC 0.527000 4 44 0 0 1 0 0 NUP210 23225 broad.mit.edu 37 3 13377022 13377022 + Missense_Mutation SNP C C T rs146409293 TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr3:13377022C>T ENST00000254508.5 - 28 3857 c.3775G>A c.(3775-3777)Gct>Act p.A1259T NM_024923.2 NP_079199.2 Q8TEM1 PO210_HUMAN nucleoporin 210kDa 1259 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_neural(104;0.187) GGGTCCACAGCCTTGACCACC 0.617000 9 110 0 0 1 0 0 MRGPRE 116534 broad.mit.edu 37 11 3249921 3249921 + Missense_Mutation SNP C C T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr11:3249921C>T ENST00000389832.5 - 2 415 c.109G>A c.(109-111)Ggt>Agt p.G37S MRGPRE_ENST00000436689.2_Missense_Mutation_p.G36S|AC109309.4_ENST00000418995.2_RNA Q86SM8 MRGRE_HUMAN MAS-related GPR, member E 36 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 19 Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19) AGCAGCCCACCGAGGCCGAGC 0.652000 9 76 0 0 1 0 0 SLC45A4 57210 broad.mit.edu 37 8 142229828 142229828 + Silent SNP C C A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr8:142229828C>A ENST00000519067.1 - 3 681 c.378G>T c.(376-378)ggG>ggT p.G126G SLC45A4_ENST00000517878.1_Silent_p.G177G|SLC45A4_ENST00000024061.3_Silent_p.G126G|SLC45A4_ENST00000433583.2_Silent_p.G119G Q5BKX6 S45A4_HUMAN solute carrier family 45, member 4 177 transport integral to membrane breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0493) CACGGATGGGCCCCTCGGTGG 0.662000 6 31 0.0293803 0.0300969 1 1 0 ZNF529 57711 broad.mit.edu 37 19 37038913 37038913 + Missense_Mutation SNP C C T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr19:37038913C>T ENST00000334116.7 - 6 842 c.232G>A c.(232-234)Gac>Aac p.D78N ZNF529_ENST00000591340.1_Missense_Mutation_p.D183N NM_001145650.1 NP_001139122.1 Q6P280 ZN529_HUMAN zinc finger protein 529 150 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 Esophageal squamous(110;0.198) AACTCTAAGTCACAACTGAAG 0.363000 23 24 0 0 1 0 0 PRPF40B 25766 broad.mit.edu 37 12 50026812 50026812 + Missense_Mutation SNP G G A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr12:50026812G>A ENST00000261897.1 + 6 831 c.280G>A c.(280-282)Gag>Aag p.E94K PRPF40B_ENST00000380281.1_Missense_Mutation_p.E100K|PRPF40B_ENST00000548825.2_Missense_Mutation_p.E122K Q6NWY9 PR40B_HUMAN PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae) 100 WW 1. mRNA processing|RNA splicing nuclear speck breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 34 CCTATGGAGTGAGCATGTGGC 0.582000 4 10 0 0 1 0 0 FRYL 285527 broad.mit.edu 37 4 48549697 48549697 + Nonsense_Mutation SNP G G A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr4:48549697G>A ENST00000537810.1 - 41 5582 c.4978C>T c.(4978-4980)Cga>Tga p.R1660* FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000503238.1_Nonsense_Mutation_p.R1660*|FRYL_ENST00000358350.4_Nonsense_Mutation_p.R1660*|FRYL_ENST00000507873.2_5'UTR O94915 FRYL_HUMAN FRY-like 1660 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 GCAACAGTTCGGATGTTACTA 0.418000 12 37 0 0 1 0 0 POU4F1 5457 broad.mit.edu 37 13 79175873 79175873 + Missense_Mutation SNP C C T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr13:79175873C>T ENST00000377208.5 - 2 1148 c.937G>A c.(937-939)Gag>Aag p.E313K RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000606376.1_RNA|RNF219-AS1_ENST00000606124.1_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000607220.1_RNA|RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000444769.3_RNA|RNF219-AS1_ENST00000560209.2_RNA NM_006237.3 NP_006228.3 Q01851 PO4F1_HUMAN POU class 4 homeobox 1 313 POU-specific. axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1) 16 Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848) GBM - Glioblastoma multiforme(99;0.129) GTGAGCGACTCGAACCTGCAG 0.647000 6 18 0 0 1 0 0 MAPK11 5600 broad.mit.edu 37 22 50705688 50705688 + Missense_Mutation SNP G G A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr22:50705688G>A ENST00000330651.6 - 5 545 c.445C>T c.(445-447)Cgg>Tgg p.R149W MAPK11_ENST00000495277.1_5'UTR|MAPK11_ENST00000449719.2_Missense_Mutation_p.R41W NM_002751.5 NP_002742.3 Q15759 MK11_HUMAN mitogen-activated protein kinase 11 149 Protein kinase. activation of MAPK activity|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|MAP kinase activity|protein binding breast(1)|central_nervous_system(1)|lung(4) 6 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) GCACCTACCCGGTGGATGATC 0.721000 4 22 0 0 1 0 0 CEACAM4 1089 broad.mit.edu 37 19 42131981 42131981 + Missense_Mutation SNP C C T rs118076769 byFrequency TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr19:42131981C>T ENST00000221954.2 - 2 528 c.418G>A c.(418-420)Gta>Ata p.V140I CEACAM4_ENST00000600925.1_Missense_Mutation_p.V140I NM_001817.2 NP_001808.2 O75871 CEAM4_HUMAN carcinoembryonic antigen-related cell adhesion molecule 4 140 integral to plasma membrane|membrane fraction NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1) 16 TCACGGTGTACGTGGAGCTGG 0.562000 39 199 0 0 1 0 0 CDHR5 53841 broad.mit.edu 37 11 617954 617954 + Splice_Site SNP C C T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr11:617954C>T ENST00000358353.3 - 15 2440 c.2118G>A c.(2116-2118)ccG>ccA p.P706P CDHR5_ENST00000397542.2_Splice_Site_p.P706P|CDHR5_ENST00000349570.7_Splice_Site_p.P512P Q9HBB8 CDHR5_HUMAN cadherin-related family member 5 706 calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2) 23 TGGGCCTCACCGGAGCTTTGC 0.672000 9 12 0 0 1 0 0 KCNJ2 3759 broad.mit.edu 37 17 68172154 68172154 + Missense_Mutation SNP G G A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr17:68172154G>A ENST00000243457.3 + 2 1357 c.974G>A c.(973-975)cGc>cAc p.R325H KCNJ2_ENST00000535240.1_Missense_Mutation_p.R325H NM_000891.2 NP_000882.1 P63252 IRK2_HUMAN potassium inwardly-rectifying channel, subfamily J, member 2 325 synaptic transmission integral to plasma membrane inward rectifier potassium channel activity|protein binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1) 25 Breast(10;1.64e-08) TGGGGCCACCGCTATGAGCCT 0.493000 12 57 0 0 1 0 0 VWF 7450 broad.mit.edu 37 12 6105241 6105241 + Missense_Mutation SNP G G C TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr12:6105241G>C ENST00000261405.5 - 35 6244 c.5990C>G c.(5989-5991)gCa>gGa p.A1997G NM_000552.3 NP_000543 P04275 VWF_HUMAN von Willebrand factor 1997 VWFD 4. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) GCCCTGCCTTGCTCCAGGGCT 0.522000 14 24 0 0 1 0 0 SLC6A1 6529 broad.mit.edu 37 3 11058951 11058951 + Silent SNP C C T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr3:11058951C>T ENST00000287766.4 + 3 475 c.54C>T c.(52-54)agC>agT p.S18S SLC6A1_ENST00000462473.1_Intron|SLC6A1-AS1_ENST00000414969.2_RNA|SLC6A1_ENST00000536032.1_Intron NM_003042.3 NP_003033.3 P30531 SC6A1_HUMAN solute carrier family 6 (neurotransmitter transporter), member 1 18 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 26 Ovarian(110;0.0392) OV - Ovarian serous cystadenocarcinoma(96;0.00099) Cocaine(DB00907)|Tiagabine(DB00906) CCGAGGTCAGCGAGGCCCCTG 0.637000 12 65 0 0 1 0 0 TENM2 57451 broad.mit.edu 37 5 167642176 167642176 + Missense_Mutation SNP C C T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr5:167642176C>T ENST00000519204.1 + 20 3732 c.3614C>T c.(3613-3615)tCg>tTg p.S1205L TENM2_ENST00000518659.1_Missense_Mutation_p.S1326L|TENM2_ENST00000403607.2_Missense_Mutation_p.S1150L|TENM2_ENST00000520394.1_Missense_Mutation_p.S1087L|TENM2_ENST00000545108.1_Missense_Mutation_p.S1325L teneurin transmembrane protein 2 GCTGGGAATTCGGAAGTTGTG 0.592000 9 130 0 0 1 0 0 PLGRKT 55848 broad.mit.edu 37 9 5431965 5431965 + Missense_Mutation SNP A A T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr9:5431965A>T ENST00000223864.2 - 3 234 c.13T>A c.(13-15)Ttt>Att p.F5I PLGRKT_ENST00000482696.1_5'UTR NM_018465.3 NP_060935.2 Q9HBL7 CI046_HUMAN plasminogen receptor, C-terminal lysine transmembrane protein 5 integral to membrane GATTTTGAAAATATAAACCCC 0.313000 5 5 0 0 1 0 0 PAPOLA 10914 broad.mit.edu 37 14 97003321 97003321 + Missense_Mutation SNP A A G TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr14:97003321A>G ENST00000216277.8 + 12 1259 c.1039A>G c.(1039-1041)Atc>Gtc p.I347V PAPOLA_ENST00000392990.2_Missense_Mutation_p.I347V NM_032632.4 NP_116021.2 P51003 PAPOA_HUMAN poly(A) polymerase alpha 347 mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription cytoplasm|nucleoplasm ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1) 21 all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155) COAD - Colon adenocarcinoma(157;0.213) AGGTCTTGCTATCACAGATGA 0.308000 10 24 0 0 1 0 0 SPSB2 84727 broad.mit.edu 37 12 6981399 6981399 + Missense_Mutation SNP C C T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr12:6981399C>T ENST00000519357.1 - 2 853 c.667G>A c.(667-669)Gag>Aag p.E223K SPSB2_ENST00000524270.1_Intron|SPSB2_ENST00000523102.1_Intron Q99619 SPSB2_HUMAN splA/ryanodine receptor domain and SOCS box containing 2 223 SOCS box. intracellular signal transduction cytoplasm protein binding kidney(2)|lung(2)|upper_aerodigestive_tract(1) 5 CCCCAGGCCTCACCTCTCCTT 0.607000 OREG0021639 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 76 218 0 0 1 0 0 RALGAPB 57148 broad.mit.edu 37 20 37117126 37117126 + Silent SNP C C T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr20:37117126C>T ENST00000262879.6 + 2 335 c.51C>T c.(49-51)ggC>ggT p.G17G RALGAPB_ENST00000397038.1_5'UTR|RALGAPB_ENST00000537204.1_Silent_p.G17G|RALGAPB_ENST00000397040.1_Silent_p.G17G|RALGAPB_ENST00000397042.3_Silent_p.G17G Q86X10 RLGPB_HUMAN Ral GTPase activating protein, beta subunit (non-catalytic) 17 activation of Ral GTPase activity intracellular protein heterodimerization activity|Ral GTPase activator activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 65 ATGATCAAGGCCATACCAGTG 0.493000 31 154 0 0 1 0 0 ESCO1 114799 broad.mit.edu 37 18 19154691 19154691 + Silent SNP T T C TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr18:19154691T>C ENST00000269214.5 - 4 1051 c.114A>G c.(112-114)aaA>aaG p.K38K NM_052911.2 NP_443143.2 Q5FWF5 ESCO1_HUMAN establishment of sister chromatid cohesion N-acetyltransferase 1 38 cell cycle|post-translational protein acetylation|regulation of DNA replication chromatin|nucleus acyltransferase activity|metal ion binding breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1) 35 TTGGACCTGATTTTTTTGCTA 0.338000 36 29 0 0 1 0 0 FZD9 8326 broad.mit.edu 37 7 72850005 72850005 + Silent SNP C C T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr7:72850005C>T ENST00000344575.3 + 1 1897 c.1668C>T c.(1666-1668)cgC>cgT p.R556R NM_003508.2 NP_003499.1 O00144 FZD9_HUMAN frizzled family receptor 9 556 B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1) 14 Lung NSC(55;0.0659)|all_lung(88;0.152) AGGCCTGCCGCGCCCCCGGGA 0.652000 7 51 0 0 1 0 0 LYST 1130 broad.mit.edu 37 1 235922848 235922848 + Missense_Mutation SNP C C T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr1:235922848C>T ENST00000389794.3 - 23 6479 c.6305G>A c.(6304-6306)cGt>cAt p.R2102H LYST_ENST00000536965.1_3'UTR|LYST_ENST00000389793.2_Missense_Mutation_p.R2102H Q99698 LYST_HUMAN lysosomal trafficking regulator 2102 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 162 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) GCTTCTAGAACGCAGCATATG 0.378000 14 66 0 0 1 0 0 ATP10A 57194 broad.mit.edu 37 15 25947187 25947187 + Missense_Mutation SNP C C T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr15:25947187C>T ENST00000356865.6 - 13 2747 c.2636G>A c.(2635-2637)cGt>cAt p.R879H NM_024490.3 NP_077816.1 O60312 AT10A_HUMAN ATPase, class V, type 10A 879 ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 103 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) GCCCGCTTGACGCAATTTAGA 0.527000 22 76 0 0 1 0 0 FER1L6 654463 broad.mit.edu 37 8 125082841 125082841 + Splice_Site SNP C C T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr8:125082841C>T ENST00000522917.1 + 30 4172 c.e30+2 FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Splice_Site NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) AAATTTAAGGCAGGTTCCATT 0.418000 33 109 0 0 1 0 0 DPP8 54878 broad.mit.edu 37 15 65756226 65756226 + Missense_Mutation SNP G G A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr15:65756226G>A ENST00000341861.5 - 15 3472 c.1892C>T c.(1891-1893)aCt>aTt p.T631I DPP8_ENST00000300141.6_Missense_Mutation_p.T615I|DPP8_ENST00000339244.5_Missense_Mutation_p.T458I|DPP8_ENST00000358939.4_Missense_Mutation_p.T615I|DPP8_ENST00000321118.7_Missense_Mutation_p.T631I|DPP8_ENST00000559233.1_Missense_Mutation_p.T631I|DPP8_ENST00000321147.6_Missense_Mutation_p.T631I NM_197960.2 NP_932064.1 Q6V1X1 DPP8_HUMAN dipeptidyl-peptidase 8 631 immune response|proteolysis cytoplasm|membrane|nucleus aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 TTCTGGAGGAGTATAGTCAGG 0.378000 17 26 0 0 1 0 0 MEGF10 84466 broad.mit.edu 37 5 126781188 126781188 + Missense_Mutation SNP G G T rs138372925 TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr5:126781188G>T ENST00000274473.6 + 21 2798 c.2531G>T c.(2530-2532)cGa>cTa p.R844L MEGF10_ENST00000503335.2_Missense_Mutation_p.R844L|MEGF10_ENST00000510828.1_Intron NM_032446.2 NP_115822.1 Q96KG7 MEG10_HUMAN multiple EGF-like-domains 10 844 Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern. cell adhesion|phagocytosis basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 68 Prostate(80;0.165) KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488) OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123) AGCTTAAGCCGAACCAGTACT 0.438000 39 45 1.51926e-22 1.67918e-22 1 1 0 SERAC1 84947 broad.mit.edu 37 6 158564168 158564168 + Nonsense_Mutation SNP G G A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr6:158564168G>A ENST00000367102.2 - 8 799 c.658C>T c.(658-660)Caa>Taa p.Q220* SERAC1_ENST00000367104.3_Nonsense_Mutation_p.Q220*|SERAC1_ENST00000367101.1_Nonsense_Mutation_p.Q220* Q96JX3 SRAC1_HUMAN serine active site containing 1 220 GPI anchor metabolic process|intracellular protein transport integral to membrane|intrinsic to endoplasmic reticulum membrane binding|hydrolase activity, acting on ester bonds endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 15 Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178) OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05) AGCTCTGTTTGAGGTAAGGAA 0.388000 27 52 0 0 1 0 0 SCAF4 57466 broad.mit.edu 37 21 33065763 33065763 + Missense_Mutation SNP T T C TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr21:33065763T>C ENST00000286835.7 - 12 1739 c.1357A>G c.(1357-1359)Aga>Gga p.R453G SCAF4_ENST00000434667.3_Missense_Mutation_p.R438G|SCAF4_ENST00000399804.1_Missense_Mutation_p.R453G NM_020706.2 NP_065757.1 O95104 SFR15_HUMAN SR-related CTD-associated factor 4 453 nucleus nucleotide binding|RNA binding NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(11)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 CTTCGAGATCTAGAACCAGAT 0.453000 25 11 0 0 1 0 0 DPYD 1806 broad.mit.edu 37 1 98187182 98187182 + Missense_Mutation SNP C C A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr1:98187182C>A ENST00000370192.3 - 5 467 c.367G>T c.(367-369)Ggt>Tgt p.G123C DPYD_ENST00000306031.5_Missense_Mutation_p.G123C|DPYD_ENST00000423006.2_Missense_Mutation_p.G86C|DPYD_ENST00000474241.1_5'UTR NM_000110.3 NP_000101 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase 123 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 83 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) CAAGTCAGACCAAGTGGGTTG 0.348000 32 51 4.34086e-07 4.58657e-07 1 1 0 TIGD3 220359 broad.mit.edu 37 11 65123927 65123927 + Silent SNP C C T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr11:65123927C>T ENST00000309880.5 + 2 855 c.648C>T c.(646-648)ctC>ctT p.L216L NM_145719.2 NP_663771.1 Q6B0B8 TIGD3_HUMAN tigger transposable element derived 3 216 DDE. regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus DNA binding endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2) 17 TGGGTGGGCTCCAGGCTGCCC 0.637000 8 129 0 0 1 0 0 DEFB126 81623 broad.mit.edu 37 20 126332 126332 + Silent SNP G G A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr20:126332G>A ENST00000382398.3 + 2 595 c.335G>A c.(334-336)tGa>tAa p.*112* DEFB126_ENST00000542572.1_3'UTR NM_030931.3 NP_112193.1 Q9BYW3 DB126_HUMAN defensin, beta 126 0 defense response to bacterium extracellular region central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1) 4 all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231) OV - Ovarian serous cystadenocarcinoma(29;0.122) CCCACTGGTTGAACATTCCAG 0.473000 33 178 0 0 1 0 0 NUP210 23225 broad.mit.edu 37 3 13377074 13377074 + Missense_Mutation SNP C C T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr3:13377074C>T ENST00000254508.5 - 28 3805 c.3723G>A c.(3721-3723)atG>atA p.M1241I NM_024923.2 NP_079199.2 Q8TEM1 PO210_HUMAN nucleoporin 210kDa 1241 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_neural(104;0.187) CGAGCACGTTCATGGCAAAGT 0.602000 9 99 0 0 1 0 0 MUC21 394263 broad.mit.edu 37 6 30954151 30954151 + Missense_Mutation SNP G G A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr6:30954151G>A ENST00000376296.3 + 2 440 c.199G>A c.(199-201)Gtg>Atg p.V67M MUC21_ENST00000486149.2_5'UTR NM_001010909.2 NP_001010909.2 Q5SSG8 MUC21_HUMAN mucin 21, cell surface associated 67 28 X 15 AA approximate tandem repeats.|Ser-rich. integral to membrane|plasma membrane NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 42 AGGGTCCAGCGTGACCTCCAA 0.572000 68 180 0 0 1 0 0 PTPRG 5793 broad.mit.edu 37 3 61989042 61989042 + Silent SNP C C T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr3:61989042C>T ENST00000474889.1 + 4 767 c.390C>T c.(388-390)gaC>gaT p.D130D PTPRG_ENST00000295874.10_Silent_p.D130D NM_002841.3 NP_002832.3 P23470 PTPRG_HUMAN protein tyrosine phosphatase, receptor type, G 130 Alpha-carbonic anhydrase. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane identical protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065) TTCTGAAAGACGACTATTTTG 0.438000 22 72 0 0 1 0 0 NUP210 23225 broad.mit.edu 37 3 13376980 13376980 + Missense_Mutation SNP C C T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr3:13376980C>T ENST00000254508.5 - 28 3899 c.3817G>A c.(3817-3819)Gaa>Aaa p.E1273K NM_024923.2 NP_079199.2 Q8TEM1 PO210_HUMAN nucleoporin 210kDa 1273 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_neural(104;0.187) TCCGAGAGTTCTCTGGCCAGG 0.632000 15 164 0 0 1 0 0 SLC9A3 6550 broad.mit.edu 37 5 482184 482184 + Splice_Site SNP C C T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr5:482184C>T ENST00000264938.3 - 8 1454 c.1445G>A c.(1444-1446)cGc>cAc p.R482H SLC9A3_ENST00000514375.1_Splice_Site_p.R473H NM_004174.2 NP_004165.2 P48764 SL9A3_HUMAN solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 482 cell surface|integral to membrane sodium:hydrogen antiporter activity NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1) 37 Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863) CGCACTTACGCGCCCGTGCAG 0.692000 3 25 0 0 1 0 0 ELF3 1999 broad.mit.edu 37 1 201983142 201983142 + Missense_Mutation SNP C C T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr1:201983142C>T ENST00000359651.3 + 7 4183 c.991C>T c.(991-993)Cgg>Tgg p.R331W ELF3_ENST00000367284.5_Missense_Mutation_p.R331W|RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000367283.3_Missense_Mutation_p.R331W P78545 ELF3_HUMAN E74-like factor 3 (ets domain transcription factor, epithelial-specific ) 331 epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 20 GAAGCTGAGCCGGGCCATGAG 0.607000 13 9 0 0 1 0 0 CLMN 79789 broad.mit.edu 37 14 95688091 95688091 + Silent SNP C C T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr14:95688091C>T ENST00000298912.4 - 4 374 c.261G>A c.(259-261)tcG>tcA p.S87S NM_024734.3 NP_079010.2 Q96JQ2 CLMN_HUMAN calmin (calponin-like, transmembrane) 87 Actin-binding.|CH 1. integral to membrane actin binding central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3) 44 Epithelial(152;0.193) TACGATGCGACGAGGATTTGT 0.443000 8 43 0 0 1 0 0 CPVL 54504 broad.mit.edu 37 7 29132262 29132262 + Silent SNP G G A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr7:29132262G>A ENST00000409850.1 - 10 1165 c.519C>T c.(517-519)gaC>gaT p.D173D CPVL_ENST00000396276.3_Silent_p.D173D|CPVL_ENST00000265394.5_Silent_p.D173D Q9H3G5 CPVL_HUMAN carboxypeptidase, vitellogenic-like 173 proteolysis protein binding|serine-type carboxypeptidase activity NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1) 28 GTGCTACATCGTCCTCATTGA 0.408000 4 29 0 0 1 0 0 MN1 4330 broad.mit.edu 37 22 28193514 28193514 + Silent SNP C C T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr22:28193514C>T ENST00000302326.4 - 1 3972 c.3018G>A c.(3016-3018)acG>acA p.T1006T NM_002430.2 NP_002421.3 Q10571 MN1_HUMAN meningioma (disrupted in balanced translocation) 1 1006 binding NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 45 AGGATGGCGACGTGAGCGCCT 0.701000 T ETV6 """AML, meningioma""" 24 64 0 0 1 0 0 DDX24 57062 broad.mit.edu 37 14 94527268 94527268 + Missense_Mutation SNP C C T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr14:94527268C>T ENST00000330836.5 - 4 1519 c.1388G>A c.(1387-1389)cGg>cAg p.R463Q DDX24_ENST00000544005.1_Missense_Mutation_p.R213Q|DDX24_ENST00000555054.1_Missense_Mutation_p.R420Q NM_020414.3 NP_065147.1 Q9GZR7 DDX24_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 24 463 Helicase ATP-binding. RNA metabolic process cytoplasm|nucleolus ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1) 23 all_cancers(154;0.12) Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207) CCTGAGCTGCCGAAGGTTCCT 0.488000 7 34 0 0 1 0 0 FUT10 84750 broad.mit.edu 37 8 33247281 33247281 + Missense_Mutation SNP G G A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr8:33247281G>A ENST00000327671.5 - 4 1043 c.412C>T c.(412-414)Cgg>Tgg p.R138W FUT10_ENST00000335589.3_Missense_Mutation_p.R76W|FUT10_ENST00000518672.1_Missense_Mutation_p.R110W|FUT10_ENST00000524021.1_Missense_Mutation_p.R110W|FUT10_ENST00000518076.1_5'UTR NM_032664.3 NP_116053.3 Q6P4F1 FUT10_HUMAN fucosyltransferase 10 (alpha (1,3) fucosyltransferase) 138 embryo development|fertilization|hemopoiesis|L-fucose catabolic process|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2) 29 KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154) TGGGCTTTCCGAGGCAGAGGT 0.388000 37 71 0 0 1 0 0 SSH3 54961 broad.mit.edu 37 11 67077777 67077777 + Silent SNP G G A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr11:67077777G>A ENST00000308127.4 + 13 1828 c.1650G>A c.(1648-1650)ctG>ctA p.L550L SSH3_ENST00000376757.5_3'UTR|SSH3_ENST00000308298.7_Silent_p.L285L NM_017857.3 NP_060327.3 Q8TE77 SSH3_HUMAN slingshot protein phosphatase 3 550 regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly cytoplasm|cytoskeleton|nucleus actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 BRCA - Breast invasive adenocarcinoma(15;2.26e-06) CCTTGGAGCTGGAGAGCACCT 0.622000 12 72 0 0 1 0 0 SRRM2 23524 broad.mit.edu 37 16 2818182 2818182 + Silent SNP G G C rs149616150 byFrequency TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr16:2818182G>C ENST00000301740.8 + 11 8202 c.7653G>C c.(7651-7653)tcG>tcC p.S2551S SRRM2_ENST00000574593.1_3'UTR NM_016333.3 NP_057417.3 Q9UQ35 SRRM2_HUMAN serine/arginine repetitive matrix 2 2551 Ser-rich. Cajal body|catalytic step 2 spliceosome|nuclear speck C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7) 105 cgtcgtcgtcgtcctcctcct 0.577000 11 10 0 0 1 0 0 ESCO1 114799 broad.mit.edu 37 18 19112474 19112474 + Missense_Mutation SNP G G A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr18:19112474G>A ENST00000269214.5 - 11 3272 c.2335C>T c.(2335-2337)Cgt>Tgt p.R779C NM_052911.2 NP_443143.2 Q5FWF5 ESCO1_HUMAN establishment of sister chromatid cohesion N-acetyltransferase 1 779 cell cycle|post-translational protein acetylation|regulation of DNA replication chromatin|nucleus acyltransferase activity|metal ion binding breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1) 35 TTCTTCCGACGCATCATGCTG 0.408000 9 103 0 0 1 0 0 SLC7A7 9056 broad.mit.edu 37 14 23249162 23249162 + Missense_Mutation SNP C C T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr14:23249162C>T ENST00000397532.3 - 3 1123 c.598G>A c.(598-600)Gtt>Att p.V200I SLC7A7_ENST00000397529.2_Missense_Mutation_p.V200I|SLC7A7_ENST00000285850.7_Missense_Mutation_p.V200I|SLC7A7_ENST00000555702.1_Missense_Mutation_p.V200I|SLC7A7_ENST00000554517.1_5'UTR|SLC7A7_ENST00000397528.4_Missense_Mutation_p.V200I|SLC7A7_ENST00000554061.1_5'UTR Q9UM01 YLAT1_HUMAN solute carrier family 7 (amino acid transporter light chain, y+L system), member 7 200 blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly basolateral plasma membrane|integral to plasma membrane amino acid transmembrane transporter activity breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2) 20 all_cancers(95;8.44e-05) GBM - Glioblastoma multiforme(265;0.00741) ATGCCTGCAACGATGACCGCG 0.413000 18 53 0 0 1 0 0 CLCN6 1185 broad.mit.edu 37 1 11867207 11867207 + Missense_Mutation SNP A A G TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr1:11867207A>G ENST00000346436.6 + 2 159 c.107A>G c.(106-108)cAg>cGg p.Q36R CLCN6_ENST00000376487.3_Missense_Mutation_p.Q36R|CLCN6_ENST00000376492.3_3'UTR|CLCN6_ENST00000376496.3_Missense_Mutation_p.Q36R|CLCN6_ENST00000376497.3_Missense_Mutation_p.Q36R|CLCN6_ENST00000312413.6_Missense_Mutation_p.Q36R NM_001286.3 NP_001277 P51797 CLCN6_HUMAN chloride channel, voltage-sensitive 6 36 cell volume homeostasis|signal transduction endosome membrane|integral to membrane antiporter activity|ATP binding|voltage-gated chloride channel activity cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4) 36 Ovarian(185;0.249) Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649) GGAGAAACACAGGAGGAGGAG 0.473000 23 14 0 0 1 0 0 SLC6A18 348932 broad.mit.edu 37 5 1232401 1232401 + Silent SNP C C T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr5:1232401C>T ENST00000324642.3 + 2 351 c.228C>T c.(226-228)ctC>ctT p.L76L SLC6A18_ENST00000296821.4_Silent_p.L76L NM_182632.2 NP_872438.2 Q96N87 S6A18_HUMAN solute carrier family 6 (neutral amino acid transporter), member 18 76 cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1) 34 all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10) Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) ACGTCGAGCTCGCCATCGGCC 0.667000 3 38 0 0 1 0 0 PCDHGA2 56113 broad.mit.edu 37 5 140719540 140719540 + Silent SNP C C T rs149528645 TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr5:140719540C>T ENST00000394576.2 + 1 1002 c.1002C>T c.(1000-1002)atC>atT p.I334I PCDHGA1_ENST00000517417.1_Intron NM_018915.2 NP_061738.1 breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGAAGGTTATCGTCACGGTTC 0.428000 41 135 0 0 1 0 0 DENND4B 9909 broad.mit.edu 37 1 153915377 153915377 + Missense_Mutation SNP G G A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr1:153915377G>A ENST00000361217.4 - 3 965 c.547C>T c.(547-549)Ccc>Tcc p.P183S NM_014856.2 NP_055671.2 O75064 DEN4B_HUMAN DENN/MADD domain containing 4B 183 MABP. NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 36 all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) AGGTTGCGGGGCAGCCGGCAG 0.632000 3 43 0 0 1 0 0 WASH2P 375260 broad.mit.edu 37 2 114356340 114356340 + RNA SNP C C G TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr2:114356340C>G ENST00000538033.2 + 0 2520 CACCTTCCCCCCCAGACCCAG 0.632000 3 26 0 0 1 0 0 CACNA1G 8913 broad.mit.edu 37 17 48649340 48649340 + Missense_Mutation SNP G G A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr17:48649340G>A ENST00000352832.5 + 5 1060 c.688G>A c.(688-690)Gtc>Atc p.V230I CACNA1G_ENST00000514181.1_Missense_Mutation_p.V230I|CACNA1G_ENST00000514079.1_Missense_Mutation_p.V230I|CACNA1G_ENST00000512389.1_Missense_Mutation_p.V230I|CACNA1G_ENST00000416767.4_Missense_Mutation_p.V230I|CACNA1G_ENST00000513964.1_Missense_Mutation_p.V230I|CACNA1G_ENST00000507609.1_Missense_Mutation_p.V230I|CACNA1G_ENST00000513689.2_Missense_Mutation_p.V230I|CACNA1G_ENST00000354983.4_Missense_Mutation_p.V230I|CACNA1G_ENST00000507336.1_Missense_Mutation_p.V230I|CACNA1G_ENST00000510115.1_Missense_Mutation_p.V230I|CACNA1G_ENST00000359106.5_Missense_Mutation_p.V230I|CACNA1G_ENST00000507896.1_Missense_Mutation_p.V230I|CACNA1G_ENST00000505165.1_Missense_Mutation_p.V230I|CACNA1G_ENST00000515765.1_Missense_Mutation_p.V230I|CACNA1G_ENST00000510366.1_Missense_Mutation_p.V230I|CACNA1G_ENST00000515411.1_Missense_Mutation_p.V230I|CACNA1G_ENST00000507510.2_Missense_Mutation_p.V230I|CACNA1G_ENST00000514717.1_Missense_Mutation_p.V230I|CACNA1G_ENST00000502264.1_Missense_Mutation_p.V230I|CACNA1G_ENST00000442258.2_Missense_Mutation_p.V230I|CACNA1G_ENST00000503485.1_Missense_Mutation_p.V230I|CACNA1G_ENST00000429973.2_Missense_Mutation_p.V230I|CACNA1G_ENST00000360761.4_Missense_Mutation_p.V230I|CACNA1G_ENST00000515165.1_Missense_Mutation_p.V230I|CACNA1G_ENST00000358244.5_Missense_Mutation_p.V230I NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2 NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1 O43497 CAC1G_HUMAN calcium channel, voltage-dependent, T type, alpha 1G subunit 230 axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23) 47 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) CATCGTCGGCGTCCAGCTGTG 0.587000 14 32 0 0 1 0 0 PXDNL 137902 broad.mit.edu 37 8 52384861 52384861 + Missense_Mutation SNP C C A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr8:52384861C>A ENST00000356297.4 - 8 798 c.698G>T c.(697-699)aGc>aTc p.S233I PXDNL_ENST00000543296.1_Missense_Mutation_p.S233I NM_144651.4 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 233 LRRCT. hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) AATTCGGGGGCTCTCTGCAAC 0.408000 17 133 8.34094e-07 8.70359e-07 1 1 0 ST6GALNAC5 81849 broad.mit.edu 37 1 77510286 77510286 + Missense_Mutation SNP C C A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr1:77510286C>A ENST00000477717.1 + 3 894 c.659C>A c.(658-660)aCt>aAt p.T220N NM_030965.1 NP_112227.1 Q9BVH7 SIA7E_HUMAN ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 220 protein glycosylation integral to Golgi membrane sialyltransferase activity endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1) 18 AAGCAGGAGACTGGCAAAGAC 0.527000 20 216 5.35356e-11 5.80257e-11 1 1 0 SLC12A1 6557 broad.mit.edu 37 15 48541868 48541868 + Missense_Mutation SNP C C A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr15:48541868C>A ENST00000396577.3 + 14 1996 c.1781C>A c.(1780-1782)tCt>tAt p.S594Y SLC12A1_ENST00000558405.1_Missense_Mutation_p.S594Y|SLC12A1_ENST00000380993.3_Missense_Mutation_p.S594Y NM_001184832.1 NP_001171761.1 Q13621 S12A1_HUMAN solute carrier family 12 (sodium/potassium/chloride transporter), member 1 594 potassium ion transport|sodium ion transport integral to membrane|membrane fraction sodium:potassium:chloride symporter activity NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1) 59 all_lung(180;0.00219) all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06) Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021) TATGCCAAATCTCCAGGTAAG 0.388000 10 48 1.08611e-07 1.1622e-07 1 1 0 ZNF786 136051 broad.mit.edu 37 7 148768943 148768943 + Silent SNP T T C TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr7:148768943T>C ENST00000316286.9 - 3 935 c.663A>G c.(661-663)ccA>ccG p.P221P ZNF786_ENST00000451334.3_Silent_p.P270P|ZNF786_ENST00000491431.1_Silent_p.P307P Q8N393 ZN786_HUMAN zinc finger protein 786 307 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2) 26 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00463) TGCTGTCCACTGGGAGGGAGC 0.697000 15 22 0 0 1 0 0 HSP90AA1 3320 broad.mit.edu 37 14 102549453 102549453 + Missense_Mutation SNP T T C TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr14:102549453T>C ENST00000334701.7 - 10 2320 c.2039A>G c.(2038-2040)aAa>aGa p.K680R HSP90AA1_ENST00000216281.8_Missense_Mutation_p.K558R|HSP90AA1_ENST00000441629.2_Missense_Mutation_p.K379R NM_001017963.2 NP_001017963.2 P07900 HS90A_HUMAN heat shock protein 90kDa alpha (cytosolic), class A member 1 558 axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction cytosol|melanosome|plasma membrane ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1) 28 Rifabutin(DB00615) ctgcttctttttctcttcttc 0.383000 9 15 0 0 1 0 0 C10orf2 56652 broad.mit.edu 37 10 102749592 102749592 + Missense_Mutation SNP G G C TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr10:102749592G>C ENST00000370228.1 + 2 1620 c.1435G>C c.(1435-1437)Gag>Cag p.E479Q C10orf2_ENST00000473656.1_3'UTR|C10orf2_ENST00000311916.2_Missense_Mutation_p.E479Q NM_001163812.1|NM_001163814.1 NP_001157284.1|NP_001157286.1 Q96RR1 PEO1_HUMAN chromosome 10 open reading frame 2 479 SF4 helicase. E -> K (in PEOA3). cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter mitochondrial nucleoid 5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1) 24 Colorectal(252;0.122)|all_hematologic(284;0.152) Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224) TGACCGCTTTGAGGACCTGCC 0.532000 45 144 0 0 1 0 0 ZIC1 7545 broad.mit.edu 37 3 147127954 147127954 + Missense_Mutation SNP G G A TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr3:147127954G>A ENST00000282928.4 + 1 784 c.55G>A c.(55-57)Gcg>Acg p.A19T NM_003412.3 NP_003403.2 Q15915 ZIC1_HUMAN Zic family member 1 19 behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 63 CACCTTTGGCGCGTCCCGCCA 0.741000 12 37 0 0 1 0 0 ACTRT3 84517 broad.mit.edu 37 3 169485270 169485270 + Missense_Mutation SNP C C T TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr3:169485270C>T ENST00000330368.2 - 2 1443 c.1069G>A c.(1069-1071)Gca>Aca p.A357T NM_032487.4 NP_115876.3 Q9BYD9 ARPM1_HUMAN actin-related protein T3 357 cytoplasm|cytoskeleton TTAAATTCTGCAGCAGTGATC 0.398000 14 195 0 0 1 0 0 MCL1 4170 broad.mit.edu 37 1 150551492 150551494 + In_Frame_Del DEL TCC TCC - TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr1:150551492_150551494delTCC ENST00000369026.2 - 1 572_574 c.513_515delGGA c.(511-516)gaggac>gac p.E171del MCL1_ENST00000307940.3_In_Frame_Del_p.E171del NM_001197320.1|NM_021960.4 NP_001184249.1|NP_068779.1 Q07820 MCL1_HUMAN myeloid cell leukemia sequence 1 (BCL2-related) 171 PEST-like. anti-apoptosis|apoptosis|cell fate determination|cellular homeostasis|multicellular organismal development|response to cytokine stimulus integral to membrane|mitochondrial outer membrane|nucleoplasm BH3 domain binding|protein binding|protein channel activity|protein heterodimerization activity endometrium(2)|large_intestine(1)|lung(4)|prostate(1) 8 all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) GTACAACTCGTCCTCCTCCTCCT 0.635 7 192 --- --- --- --- TNR 7143 broad.mit.edu 37 1 175372615 175372615 + Frame_Shift_Del DEL C C - TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr1:175372615delC ENST00000367674.2 - 4 1345 c.637delG c.(637-639)gtgfs p.V213fs TNR_ENST00000263525.2_Frame_Shift_Del_p.V213fs Q92752 TENR_HUMAN tenascin R Cys-rich. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) TCCACACACACCCCCCGGCTG 0.607 7 611 --- --- --- --- CACNA1S 779 broad.mit.edu 37 1 201029886 201029886 + Frame_Shift_Del DEL T T - TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr1:201029886delT ENST00000362061.3 - 26 3540 c.3314delA c.(3313-3315)aacfs p.N1105fs CACNA1S_ENST00000367338.3_Frame_Shift_Del_p.N1105fs NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 1105 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) CTGGTATGGGTTTTTGGGAAT 0.532 7 785 --- --- --- --- ELF3 1999 broad.mit.edu 37 1 201981520 201981521 + Frame_Shift_Ins INS - - G TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr1:201981520_201981521insG ENST00000359651.3 + 3 3626_3627 c.434_435insG c.(433-438)aaggatfs p.D146fs ELF3_ENST00000367283.3_Frame_Shift_Ins_p.D146fs|ELF3_ENST00000367284.5_Frame_Shift_Ins_p.D146fs|ELF3_ENST00000495848.1_3'UTR|RP11-510N19.5_ENST00000504773.1_RNA P78545 ELF3_HUMAN E74-like factor 3 (ets domain transcription factor, epithelial-specific ) 146 epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 20 CTGCTGGAGAAGGATGGCATGG 0.579 25 184 --- --- --- --- FBLN2 2199 broad.mit.edu 37 3 13612699 13612701 + In_Frame_Del DEL GAG GAG - TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr3:13612699_13612701delGAG ENST00000404922.3 + 2 963_965 c.844_846delGAG c.(844-846)gagdel p.E286del FBLN2_ENST00000535798.1_In_Frame_Del_p.E312del|FBLN2_ENST00000492059.1_In_Frame_Del_p.E286del|FBLN2_ENST00000295760.7_In_Frame_Del_p.E286del NM_001004019.1 NP_001004019.1 P98095 FBLN2_HUMAN fibulin 2 286 N.|Subdomain NB (Cys-free). proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1) 24 UCEC - Uterine corpus endometrioid carcinoma (1;0.00416) ggaggaagaagaggaggaggagg 0.655 7 350 --- --- --- --- MAP4 4134 broad.mit.edu 37 3 47913557 47913558 + In_Frame_Ins INS - - CCG TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr3:47913557_47913558insCCG ENST00000426837.2 - 13 5877_5878 c.5790_5791insCGG c.(5788-5793)cgggcc>cggCGGgcc p.1930_1931insR MAP4_ENST00000383737.4_In_Frame_Ins_p.513_514insR|MAP4_ENST00000441748.2_5'UTR|MAP4_ENST00000360240.6_In_Frame_Ins_p.785_786insR|MAP4_ENST00000264724.11_In_Frame_Ins_p.520_521insR|MAP4_ENST00000395734.3_In_Frame_Ins_p.785_786insR|MAP4_ENST00000462206.1_5'UTR|MAP4_ENST00000420772.2_In_Frame_Ins_p.536_537insR P27816 MAP4_HUMAN microtubule-associated protein 4 785 negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2) 32 BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736) GATGGTGAGGCCCGCTTCTCAG 0.550 74 255 --- --- --- --- FGFRL1 53834 broad.mit.edu 37 4 1019055 1019056 + Frame_Shift_Del DEL CA CA - TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr4:1019055_1019056delCA ENST00000398484.2 + 8 2015_2016 c.1435_1436delCA c.(1435-1437)cacfs p.H479fs FGFRL1_ENST00000510644.1_Frame_Shift_Del_p.H479fs|FGFRL1_ENST00000264748.6_Frame_Shift_Del_p.H479fs|FGFRL1_ENST00000504138.1_Frame_Shift_Del_p.H479fs Q8N441 FGRL1_HUMAN fibroblast growth factor receptor-like 1 479 His-rich. regulation of cell growth integral to membrane|plasma membrane fibroblast growth factor receptor activity|heparin binding endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1) 13 OV - Ovarian serous cystadenocarcinoma(23;0.0158) cacagacatccacacacacaca 0.584 5 9 --- --- --- --- RRP36 88745 broad.mit.edu 37 6 42989434 42989451 + In_Frame_Del DEL CGGGGCCCGACGTCCCCG CGGGGCCCGACGTCCCCG - TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr6:42989434_42989451delCGGGGCCCGACGTCCCCG ENST00000244496.5 + 1 52_69 c.42_59delCGGGGCCCGACGTCCCCG c.(40-60)gccggggcccgacgtccccgc>gcc p.GARRPR15del NM_033112.2 NP_149103.1 Q96EU6 RRP36_HUMAN ribosomal RNA processing 36 homolog (S. cerevisiae) 15 ribosomal small subunit biogenesis|rRNA processing nucleolus NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1) 11 gggccggggccggggcccgacgtccccgcggggcccgg 0.784 3 3 --- --- --- --- THSD7A 221981 broad.mit.edu 37 7 11871469 11871470 + In_Frame_Ins INS - - GCAGCG TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr7:11871469_11871470insGCAGCG ENST00000423059.4 - 1 354_355 c.103_104insCGCTGC c.(103-105)ctc>cCGCTGCtc p.34_35insPL NM_015204.2 NP_056019.1 Q9UPZ6 THS7A_HUMAN thrombospondin, type I, domain containing 7A integral to membrane NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11) 113 UCEC - Uterine corpus endometrioid carcinoma (126;0.163) cagcagcaggagcagcggcagc 0.772 HNSCC(18;0.044) 4 8 --- --- --- --- SSPO 23145 broad.mit.edu 37 7 149526874 149526874 + RNA DEL C C - TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr7:149526874delC ENST00000378016.2 + 0 15142 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) cctcctgtgtcccccccacag 0.657 2 4 --- --- --- --- RP11-15G16.1 0 broad.mit.edu 37 8 41292930 41292932 + RNA DEL GAG GAG - TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr8:41292930_41292932delGAG ENST00000521725.1 + 0 114_116 ggagaaggaagaggaggaggagg 0.547 3 6 --- --- --- --- EMX2OS 196047 broad.mit.edu 37 10 119301868 119301869 + RNA INS - - G TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr10:119301868_119301869insG ENST00000551288.1 - 0 574 NR_002791.2 aggaggaggaagaagaggagga 0.653 2 4 --- --- --- --- MALAT1 378938 broad.mit.edu 37 11 65271371 65271374 + RNA DEL AGAC AGAC - rs138668622 TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr11:65271371_65271374delAGAC ENST00000534336.1 + 0 6139_6142 NR_002819.2 ATAACCTCTTAGACAGGTGGGAGA 0.338 5 7 --- --- --- --- KRT19 3880 broad.mit.edu 37 17 39681230 39681231 + Frame_Shift_Ins INS - - AG TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr17:39681230_39681231insAG ENST00000361566.3 - 3 584_585 c.524_525insCT c.(523-525)ctgfs p.L175fs NM_002276.4 NP_002267.2 keratin 19 breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2) 12 Breast(137;0.00038) CGCTCATGCGCAGAGCCTGTTC 0.584 77 120 --- --- --- --- ST6GALNAC1 55808 broad.mit.edu 37 17 74625715 74625716 + Frame_Shift_Del DEL TG TG - rs8081258 byFrequency TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr17:74625715_74625716delTG ENST00000156626.7 - 2 408_409 c.209_210delCA c.(208-210)gcafs p.A70fs ST6GALNAC1_ENST00000590878.1_5'UTR NM_018414.3 NP_060884.1 Q9NSC7 SIA7A_HUMAN ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1 70 protein glycosylation integral to Golgi membrane alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1) 22 TTGTCCTCCTTGCCCTTGTGGG 0.535 70 141 --- --- --- --- ZNF578 147660 broad.mit.edu 37 19 53014654 53014654 + Frame_Shift_Del DEL G G - TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr19:53014654delG ENST00000421239.2 + 6 1264 c.1020delG c.(1018-1020)gagfs p.E340fs CTD-3099C6.5_ENST00000599143.1_RNA NM_001099694.1 NP_001093164.1 Q96N58 ZN578_HUMAN zinc finger protein 578 115 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01) ACACTGGTGAGAAACCTTACA 0.403 21 119 --- --- --- --- KIZ-AS1 101929591 broad.mit.edu 37 20 21146788 21146789 + RNA INS - - T rs34056823 TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr20:21146788_21146789insT ENST00000591761.1 - 0 5051 PLK1S1_ENST00000457464.1_RNA tgtattttGTATTTTTTTTTTT 0.401 2 4 --- --- --- --- BPIFB4 149954 broad.mit.edu 37 20 31685499 31685501 + In_Frame_Del DEL AGA AGA - TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr20:31685499_31685501delAGA ENST00000375483.3 + 11 1475_1477 c.1475_1477delAGA c.(1474-1479)cagaag>cag p.K493del NM_182519.2 NP_872325.2 P59827 LPLC4_HUMAN BPI fold containing family B, member 4 493 cytoplasm|extracellular region lipid binding p.K454Q(1) GTGATGCTGCAGAAGGACAAAGC 0.576 28 140 --- --- --- --- AP001347.6 0 broad.mit.edu 37 21 15429545 15429545 + RNA DEL A A - TCGA-GV-A3JV-01A-11D-A21Z-08 TCGA-GV-A3JV-10B-01D-A21Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 5fed4b8a-4b59-4424-bbf1-bc73ce041361 f9fd3c7e-20a6-4d48-a45b-6482fdc10173 g.chr21:15429545delA ENST00000428809.1 + 0 177 AP001347.6_ENST00000432621.1_RNA|AP001347.6_ENST00000448463.1_RNA AGGGTCATCTAAAAACCAAGG 0.642 2 4 --- --- --- ---