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 PCDH11X 27328 broad.mit.edu 37 X 91137942 91137942 + Missense_Mutation SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chrX:91137942G>A ENST00000395337.2 + 6 3703 c.3070G>A c.(3070-3072)Gag>Aag p.E1024K PCDH11X_ENST00000406881.1_Intron|PCDH11X_ENST00000373094.1_Intron|PCDH11X_ENST00000298274.8_Intron|PCDH11X_ENST00000373088.1_Intron|PCDH11X_ENST00000361655.2_Intron|PCDH11X_ENST00000504220.2_Intron|PCDH11X_ENST00000373097.1_Intron NM_032967.2 NP_116749.1 Q9BZA7 PC11X_HUMAN protocadherin 11 X-linked 0 homophilic cell adhesion integral to plasma membrane calcium ion binding p.E1024K(1) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 159 AATCTGCAGTGAGATATAACT 0.323000 23 60 0 0 0.076483 0 0 PCDHA13 56136 broad.mit.edu 37 5 140263524 140263524 + Silent SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr5:140263524C>T ENST00000289272.2 + 1 1671 c.1671C>T c.(1669-1671)gaC>gaT p.D557D PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA13_ENST00000409494.1_Silent_p.D557D|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron NM_018904.2|NM_031865.1 NP_061727.1|NP_114071.1 p.D557D(1) NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCGTGCTGGACGAGAACGACA 0.697000 67 40 0 0 0.139131 0 0 ARHGAP17 55114 broad.mit.edu 37 16 24988548 24988548 + Silent SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr16:24988548G>A ENST00000289968.6 - 3 255 c.186C>T c.(184-186)gcC>gcT p.A62A ARHGAP17_ENST00000441763.2_Silent_p.A62A|ARHGAP17_ENST00000303665.5_Silent_p.A62A|ARHGAP17_ENST00000575975.1_5'UTR NM_001006634.1 NP_001006635.1 Q68EM7 RHG17_HUMAN Rho GTPase activating protein 17 62 BAR. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|tight junction GTPase activator activity|SH3 domain binding p.A62A(2) breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2) 30 GBM - Glioblastoma multiforme(48;0.0407) GTCTCCTCTCGGCATCGGTGC 0.547000 10 53 0 0 0.058154 0 0 HIP1 3092 broad.mit.edu 37 7 75203167 75203167 + Missense_Mutation SNP G G C TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr7:75203167G>C ENST00000336926.6 - 8 670 c.644C>G c.(643-645)aCg>aGg p.T215R HIP1_ENST00000434438.2_Missense_Mutation_p.T215R NM_005338.5 NP_005329.3 O00291 HIP1_HUMAN huntingtin interacting protein 1 215 activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton p.T215R(1) breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 CCCTGCTGCCGTCACGGACAC 0.547000 T PDGFRB CMML 6 97 0 0 0.021553 0 0 ATP2A2 488 broad.mit.edu 37 12 110720594 110720594 + Missense_Mutation SNP A A G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr12:110720594A>G ENST00000395494.2 + 3 776 c.213A>G c.(211-213)atA>atG p.I71M ATP2A2_ENST00000308664.6_Missense_Mutation_p.I71M|ATP2A2_ENST00000552636.1_5'UTR|ATP2A2_ENST00000539276.2_Missense_Mutation_p.I71M P16615 AT2A2_HUMAN ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 71 ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding p.I71M(1) NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1) 38 CAGCATGTATATCTTTTGTAA 0.328000 19 59 0 0 0.055883 0 0 TRIM54 57159 broad.mit.edu 37 2 27505677 27505677 + Silent SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr2:27505677C>T ENST00000296098.4 + 1 348 c.78C>T c.(76-78)tgC>tgT p.C26C TRIM54_ENST00000380075.2_Silent_p.C26C NM_032546.3 NP_115935.3 Q9BYV2 TRI54_HUMAN tripartite motif containing 54 26 cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization microtubule|sarcomere signal transducer activity|zinc ion binding p.C10C(1) cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGCTCATCTGCCCCATCTGCC 0.587000 72 360 0 0 0.139131 0 0 PTPN13 5783 broad.mit.edu 37 4 87735669 87735669 + Missense_Mutation SNP G G C TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr4:87735669G>C ENST00000436978.1 + 48 7918 c.7438G>C c.(7438-7440)Gaa>Caa p.E2480Q PTPN13_ENST00000411767.2_Missense_Mutation_p.E2475Q|PTPN13_ENST00000511467.1_Missense_Mutation_p.E2480Q|PTPN13_ENST00000316707.6_Missense_Mutation_p.E2284Q|PTPN13_ENST00000427191.2_Missense_Mutation_p.E2456Q NM_080683.2|NM_080685.2 NP_542414.1|NP_542416.1 Q12923 PTN13_HUMAN protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) 2475 cytoplasm|cytoskeleton|plasma membrane protein binding|protein tyrosine phosphatase activity p.E2480Q(1) NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.00082) TCAAGCAGAAGAAGAGCAAAA 0.408000 14 29 0 0 0.132662 0 0 SAMD9 54809 broad.mit.edu 37 7 92732940 92732940 + Missense_Mutation SNP C C G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr7:92732940C>G ENST00000379958.2 - 3 2740 c.2471G>C c.(2470-2472)cGa>cCa p.R824P NM_001193307.1|NM_017654.3 NP_001180236.1|NP_060124.2 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 824 cytoplasm p.R824P(1) NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) TTTTTCATATCGAATGTACTT 0.358000 26 119 0 0 0.083992 0 0 PCDHA7 56141 broad.mit.edu 37 5 140215250 140215250 + Missense_Mutation SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr5:140215250C>T ENST00000525929.1 + 1 1282 c.1282C>T c.(1282-1284)Cgg>Tgg p.R428W PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.R428W|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron NM_018910.2 NP_061733.1 p.R428W(6) NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGTTACCGCGCGGGACGGGGG 0.617000 43 99 0 0 0.139131 0 0 DHRS7 51635 broad.mit.edu 37 14 60620715 60620715 + Missense_Mutation SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr14:60620715C>T ENST00000216500.5 - 4 810 c.355G>A c.(355-357)Gaa>Aaa p.E119K PCNXL4_ENST00000553898.1_Intron|DHRS7_ENST00000553986.1_5'UTR|DHRS7_ENST00000557185.1_Missense_Mutation_p.E119K|DHRS7_ENST00000536410.2_Missense_Mutation_p.E69K|PCNXL4_ENST00000406949.1_Intron Q9Y394 DHRS7_HUMAN dehydrogenase/reductase (SDR family) member 7 119 binding|oxidoreductase activity p.E119K(1) endometrium(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1) 5 OV - Ovarian serous cystadenocarcinoma(108;0.121) GTAGCCGCTTCATGGGAACCA 0.388000 20 97 0 0 0.076483 0 0 QSER1 79832 broad.mit.edu 37 11 32956871 32956871 + Missense_Mutation SNP C C G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr11:32956871C>G ENST00000399302.2 + 4 4015 c.3680C>G c.(3679-3681)tCt>tGt p.S1227C QSER1_ENST00000527788.1_Missense_Mutation_p.S988C NM_001076786.1 NP_001070254.1 Q2KHR3 QSER1_HUMAN glutamine and serine rich 1 1227 p.S1227C(1) breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1) 48 Breast(20;0.158) GAACATTTATCTTCATTTTCT 0.363000 77 132 0 0 0.139131 0 0 DRP2 1821 broad.mit.edu 37 X 100513302 100513302 + Missense_Mutation SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chrX:100513302C>T ENST00000395209.3 + 22 2922 c.2395C>T c.(2395-2397)Ctc>Ttc p.L799F DRP2_ENST00000541709.1_Missense_Mutation_p.L721F|DRP2_ENST00000402866.1_Missense_Mutation_p.L799F|DRP2_ENST00000538510.1_Missense_Mutation_p.L799F NM_001939.2 NP_001930.2 Q13474 DRP2_HUMAN dystrophin related protein 2 799 central nervous system development cytoplasm|cytoskeleton zinc ion binding p.L796F(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2) 31 TGGCAGGATTCTCCAGGGAGA 0.587000 3 6 0 0 0.029380 0 0 KLHDC8A 55220 broad.mit.edu 37 1 205306715 205306715 + Missense_Mutation SNP G G C TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr1:205306715G>C ENST00000367156.3 - 9 1681 c.865C>G c.(865-867)Caa>Gaa p.Q289E KLHDC8A_ENST00000367155.3_Missense_Mutation_p.Q289E|KLHDC8A_ENST00000537168.1_Missense_Mutation_p.Q176E|KLHDC8A_ENST00000539253.1_Missense_Mutation_p.Q289E|KLHDC8A_ENST00000460687.1_Missense_Mutation_p.Q155E NM_001271863.1 NP_001258792.1 Q8IYD2 KLD8A_HUMAN kelch domain containing 8A 289 p.Q289E(1) breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 14 Breast(84;0.23) BRCA - Breast invasive adenocarcinoma(75;0.117) ACAGTGGGTTGATTCCCTGAA 0.587000 30 94 0 0 0.125774 0 0 LRP1B 53353 broad.mit.edu 37 2 141598563 141598563 + Silent SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr2:141598563G>A ENST00000389484.3 - 30 6009 c.5038C>T c.(5038-5040)Cta>Tta p.L1680L NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 1680 protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding p.L1680L(1) NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) GAGCCATCTAGCCTTGCCACA 0.398000 TSP Lung(27;0.18) 48 62 0 0 0.131918 0 0 PKP3 11187 broad.mit.edu 37 11 397293 397293 + Silent SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr11:397293C>T ENST00000331563.2 + 3 868 c.792C>T c.(790-792)ggC>ggT p.G264G NM_007183.2 NP_009114.1 Q9Y446 PKP3_HUMAN plakophilin 3 264 cell adhesion desmosome|nucleus binding p.G264G(1) breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703) GCGGGGTAGGCGGGGCAGTGC 0.736000 4 2 0 0 0.009096 0 0 DIP2B 57609 broad.mit.edu 37 12 51065079 51065079 + Nonsense_Mutation SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr12:51065079C>T ENST00000301180.5 + 5 572 c.538C>T c.(538-540)Cag>Tag p.Q180* NM_173602.2 NP_775873.2 Q9P265 DIP2B_HUMAN DIP2 disco-interacting protein 2 homolog B (Drosophila) 180 Ser-rich. nucleus catalytic activity|transcription factor binding p.Q180*(1) breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2) 60 CCGTTCAATTCAGGGATCGTC 0.527000 82 71 0 0 0.139131 0 0 ZNF710 374655 broad.mit.edu 37 15 90622959 90622959 + Silent SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr15:90622959C>T ENST00000268154.4 + 5 2144 c.1893C>T c.(1891-1893)ttC>ttT p.F631F RP11-617F23.1_ENST00000558334.1_RNA NM_198526.2 NP_940928.2 Q8N1W2 ZN710_HUMAN zinc finger protein 710 631 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.F631F(1) breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3) 19 Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04) BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129) TGGAGGACTTCGAGGAGAACG 0.582000 37 130 0 0 0.117977 0 0 IRF2BPL 64207 broad.mit.edu 37 14 77492242 77492242 + Missense_Mutation SNP C C G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr14:77492242C>G ENST00000238647.3 - 1 2792 c.1894G>C c.(1894-1896)Gat>Cat p.D632H NM_024496.3 NP_078772.1 Q9H1B7 I2BPL_HUMAN interferon regulatory factor 2 binding protein-like 632 nucleus p.D632H(1) endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 11 CCCAGAGTATCTGCCACCGAC 0.677000 11 31 0 0 0.080935 0 0 HRNR 388697 broad.mit.edu 37 1 152188199 152188199 + Missense_Mutation SNP G G C TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr1:152188199G>C ENST00000368801.2 - 3 5981 c.5906C>G c.(5905-5907)tCt>tGt p.S1969C FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 1969 keratinization calcium ion binding|protein binding p.S1969C(1) autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCCTGAGCCAGACCCATATGG 0.617000 161 2961 0 0 0.074837 0 0 PPEF2 5470 broad.mit.edu 37 4 76781888 76781888 + Missense_Mutation SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr4:76781888C>T ENST00000286719.7 - 17 2550 c.2194G>A c.(2194-2196)Gat>Aat p.D732N NM_006239.2 NP_006230.2 O14830 PPE2_HUMAN protein phosphatase, EF-hand calcium binding domain 2 732 detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception cytoplasm|photoreceptor inner segment|photoreceptor outer segment calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity p.D732N(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 50 Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934) TCTGAGGCATCGCCCTCTGGG 0.512000 22 64 0 0 0.069288 0 0 CACNA1D 776 broad.mit.edu 37 3 53766966 53766966 + Missense_Mutation SNP C C G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr3:53766966C>G ENST00000288139.4 + 20 2776 c.2658C>G c.(2656-2658)ttC>ttG p.F886L CACNA1D_ENST00000350061.5_Missense_Mutation_p.F866L|CACNA1D_ENST00000422281.2_Missense_Mutation_p.F866L NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity p.F886L(1) breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) GGAGCGCTTTCTTCATTCTTA 0.547000 38 37 0 0 0.080422 0 0 ERCC6L2 375748 broad.mit.edu 37 9 98690414 98690414 + Silent SNP C C G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr9:98690414C>G ENST00000288985.7 + 10 1925 c.1620C>G c.(1618-1620)ctC>ctG p.L540L ERCC6L2_ENST00000466840.1_3'UTR|ERCC6L2_ENST00000437817.1_Silent_p.L351L NM_001010895.2 NP_001010895.1 Q5T890 RAD26_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6-like 2 540 Helicase C-terminal. DNA repair nucleus ATP binding|ATP-dependent helicase activity|DNA binding p.L540L(1) aagttcttctcttttcttttt 0.373000 25 42 0 0 0.091800 0 0 PRSS12 8492 broad.mit.edu 37 4 119203155 119203155 + Missense_Mutation SNP G G T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr4:119203155G>T ENST00000296498.3 - 13 2846 c.2564C>A c.(2563-2565)tCt>tAt p.S855Y NM_003619.3 NP_003610.2 P56730 NETR_HUMAN protease, serine, 12 (neurotrypsin, motopsin) 855 Peptidase S1. membrane scavenger receptor activity p.S855Y(1) endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 29 AACACCAGGAGAATCCTTGAC 0.488000 22 91 2.98393e-07 3.07883e-07 0.076483 1 0 FER1L5 90342 broad.mit.edu 37 2 97361264 97361264 + RNA SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr2:97361264C>T ENST00000457909.1 + 0 3263 A0AVI2 FR1L5_HUMAN fer-1-like 5 (C. elegans) integral to membrane p.R1281W(1) NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2) 38 CTGGGGCCTTCGGAACATGAA 0.602000 8 8 0 0 0.047766 0 0 DOT1L 84444 broad.mit.edu 37 19 2216319 2216319 + Nonsense_Mutation SNP G G T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr19:2216319G>T ENST00000398665.3 + 20 1999 c.1963G>T c.(1963-1965)Gag>Tag p.E655* DOT1L_ENST00000608122.1_3'UTR NM_032482.2 NP_115871.1 Q8TEK3 DOT1L_HUMAN DOT1-like histone H3K79 methyltransferase 655 nucleus DNA binding|histone-lysine N-methyltransferase activity|protein binding p.E655*(2) NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9) 42 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCGGCAGCAGGAGCTCCTGCA 0.672000 23 52 1.64293e-13 1.73818e-13 0.083992 1 0 CENPE 1062 broad.mit.edu 37 4 104103931 104103931 + Silent SNP A A C TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr4:104103931A>C ENST00000265148.3 - 11 1040 c.951T>G c.(949-951)ctT>ctG p.L317L CENPE_ENST00000380026.3_Silent_p.L317L NM_001813.2 NP_001804.2 Q02224 CENPE_HUMAN centromere protein E, 312kDa 317 Kinesin-motor. blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle ATP binding|kinetochore binding|microtubule motor activity p.L317L(1) NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3) 101 OV - Ovarian serous cystadenocarcinoma(123;2.95e-08) GGAGAGCAGTAAGTGTTTCAT 0.353000 28 141 0 0 0.116897 0 0 PRX 57716 broad.mit.edu 37 19 40901150 40901150 + Missense_Mutation SNP C C G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr19:40901150C>G ENST00000324001.7 - 7 3379 c.3109G>C c.(3109-3111)Gaa>Caa p.E1037Q PRX_ENST00000291825.7_3'UTR NM_181882.2 NP_870998.2 Q9BXM0 PRAX_HUMAN periaxin 1037 axon ensheathment cytoplasm|nucleus|plasma membrane protein binding p.E1037Q(1) breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9) 47 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) GGCACTAGTTCTGCTGCCTCA 0.627000 22 140 0 0 0.069288 0 0 ANKRD30BP2 149992 broad.mit.edu 37 21 14414855 14414855 + RNA SNP A A G rs141732548 by1000genomes TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr21:14414855A>G ENST00000507941.1 + 0 95 GCCAATGGCCATGCAGAAGTA 0.448000 4 44 0 0 0.021553 0 0 G3BP2 9908 broad.mit.edu 37 4 76570708 76570708 + Missense_Mutation SNP C C G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr4:76570708C>G ENST00000359707.4 - 12 2140 c.1355G>C c.(1354-1356)aGa>aCa p.R452T G3BP2_ENST00000395719.3_Missense_Mutation_p.R452T|G3BP2_ENST00000357854.3_Missense_Mutation_p.R419T NM_203505.2 NP_987101.1 Q9UN86 G3BP2_HUMAN GTPase activating protein (SH3 domain) binding protein 2 452 Gly-rich. cytoplasmic sequestering of NF-kappaB|mRNA transport|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol GTPase activator activity|nucleotide binding|receptor signaling complex scaffold activity|RNA binding p.R452T(1) breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 27 Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122) AGGAGGTCCTCTTCCATCACG 0.582000 23 109 0 0 0.069288 0 0 GRM7 2917 broad.mit.edu 37 3 6903515 6903515 + Missense_Mutation SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr3:6903515C>T ENST00000486284.1 + 1 714 c.440C>T c.(439-441)cCg>cTg p.P147L GRM7_ENST00000357716.4_Missense_Mutation_p.P147L|GRM7_ENST00000402647.2_Missense_Mutation_p.P147L|GRM7_ENST00000389336.4_Missense_Mutation_p.P147L|GRM7_ENST00000403881.1_Missense_Mutation_p.P147L NM_181874.2 NP_870989.1 Q14831 GRM7_HUMAN glutamate receptor, metabotropic 7 147 negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding p.P147L(1) breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 76 L-Glutamic Acid(DB00142) TTCGTCAAGCCGGAGAAAGTA 0.597000 23 70 0 0 0.091800 0 0 IL26 55801 broad.mit.edu 37 12 68595841 68595841 + Missense_Mutation SNP C C G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr12:68595841C>G ENST00000229134.4 - 4 450 c.386G>C c.(385-387)aGa>aCa p.R129T IFNG-AS1_ENST00000536914.1_RNA NM_018402.1 NP_060872.1 Q9NPH9 IL26_HUMAN interleukin 26 129 cell-cell signaling|negative regulation of epithelial cell proliferation|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of JAK-STAT cascade|positive regulation of protein kinase B signaling cascade|positive regulation of stress-activated MAPK cascade|positive regulation of transcription from RNA polymerase II promoter cytosol|extracellular space|soluble fraction cytokine activity p.R129T(1) endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1) 12 Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018) GBM - Glioblastoma multiforme(7;0.000515) TTTCATCTCTCTAGCTGATGA 0.259000 5 13 0 0 0.014758 0 0 TBC1D21 161514 broad.mit.edu 37 15 74180837 74180837 + Missense_Mutation SNP G G C TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr15:74180837G>C ENST00000300504.2 + 10 1044 c.961G>C c.(961-963)Gag>Cag p.E321Q TBC1D21_ENST00000562056.1_Missense_Mutation_p.E284Q|TBC1D21_ENST00000535547.2_Missense_Mutation_p.E285Q NM_153356.1 NP_699187.1 Q8IYX1 TBC21_HUMAN TBC1 domain family, member 21 321 intracellular Rab GTPase activator activity p.E321Q(1) breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1) 17 GGTTTATGCTGAGCTCATCCA 0.572000 8 52 0 0 0.047766 0 0 HNMT 3176 broad.mit.edu 37 2 138771674 138771674 + Missense_Mutation SNP C C G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr2:138771674C>G ENST00000280097.3 + 6 1035 c.853C>G c.(853-855)Ctg>Gtg p.L285V HNMT_ENST00000410115.1_Missense_Mutation_p.L285V NM_006895.2 NP_008826.1 P50135 HNMT_HUMAN histamine N-methyltransferase 285 respiratory gaseous exchange cytoplasm histamine N-methyltransferase activity p.L285V(1) NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 BRCA - Breast invasive adenocarcinoma(221;0.125) Amodiaquine(DB00613)|Histamine Phosphate(DB00667)|Quinacrine(DB01103) TAATAATACTCTGAGTTTCAT 0.343000 19 112 0 0 0.049695 0 0 KDM6A 7403 broad.mit.edu 37 X 44938512 44938512 + Silent SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chrX:44938512C>T ENST00000377967.4 + 20 3101 c.3060C>T c.(3058-3060)atC>atT p.I1020I KDM6A_ENST00000536777.1_Silent_p.I975I|KDM6A_ENST00000543216.1_Silent_p.I941I|KDM6A_ENST00000382899.4_Silent_p.I1027I NM_021140.2 NP_066963.2 O15550 KDM6A_HUMAN lysine (K)-specific demethylase 6A 1020 histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.0?(6)|p.I1020I(1) NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29) 170 CAAAGAAAATCTGGCATTGTG 0.403000 """D, N, F, S""" """renal, oesophageal SCC, MM""" 48 100 0 0 0.139131 0 0 CDH22 64405 broad.mit.edu 37 20 44841804 44841804 + Missense_Mutation SNP C C G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr20:44841804C>G ENST00000372262.3 - 5 1262 c.862G>C c.(862-864)Gag>Cag p.E288Q CDH22_ENST00000537909.1_Missense_Mutation_p.E288Q|CDH22_ENST00000474438.1_5'UTR NM_021248.1 NP_067071.1 Q9UJ99 CAD22_HUMAN cadherin 22, type 2 288 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.E288Q(1) endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3) 44 Myeloproliferative disorder(115;0.0122) GGGGCTGACTCCTGGATGCTG 0.597000 52 67 0 0 0.139131 0 0 SPANXN1 494118 broad.mit.edu 37 X 144337274 144337274 + Silent SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chrX:144337274G>A ENST00000370493.3 + 2 918 c.159G>A c.(157-159)gcG>gcA p.A53A NM_001009614.2 NP_001009614.1 Q5VSR9 SPXN1_HUMAN SPANX family, member N1 53 p.A53A(4) endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1) 14 Acute lymphoblastic leukemia(192;6.56e-05) CAGTATTAGCGTTTTGCTACA 0.433000 88 129 0 0 0.139131 0 0 NFE2L2 4780 broad.mit.edu 37 2 178095734 178095734 + Missense_Mutation SNP T T G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr2:178095734T>G ENST00000397062.3 - 5 2151 c.1597A>C c.(1597-1599)Aaa>Caa p.K533Q NFE2L2_ENST00000446151.2_Missense_Mutation_p.K510Q|NFE2L2_ENST00000464747.1_Missense_Mutation_p.K517Q|NFE2L2_ENST00000397063.4_Missense_Mutation_p.K517Q NM_006164.4 NP_006155.2 Q16236 NF2L2_HUMAN nuclear factor, erythroid 2-like 2 533 Leucine-zipper. transcription from RNA polymerase II promoter centrosome|cytosol|nucleus|plasma membrane protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.K533Q(1) central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 158 Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935) TTTTCATCTTTCAAATGATCT 0.343000 Mis """NSCLC, HNSCC""" HNSCC(56;0.16) 101 103 0 0 0.139131 0 0 STARD8 9754 broad.mit.edu 37 X 67940785 67940785 + Missense_Mutation SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chrX:67940785C>T ENST00000252336.6 + 8 2201 c.1829C>T c.(1828-1830)tCt>tTt p.S610F STARD8_ENST00000374597.3_Missense_Mutation_p.S610F|STARD8_ENST00000374599.3_Missense_Mutation_p.S690F NM_014725.4 NP_055540.2 Q92502 STAR8_HUMAN StAR-related lipid transfer (START) domain containing 8 610 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion GTPase activator activity p.S610F(2)|p.S690F(1) NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2) 50 TTCCGCAAGTCTGGGGTCAAG 0.572000 36 39 0 0 0.069456 0 0 MST1L 11223 broad.mit.edu 37 1 17083652 17083652 + RNA SNP C C T rs113710576 by1000genomes TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr1:17083652C>T ENST00000455405.2 - 0 936 aaatctcaaccttgagtacaa 0.388000 10 60 0 0 0.093190 0 0 KIF1A 547 broad.mit.edu 37 2 241702670 241702670 + Missense_Mutation SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr2:241702670G>A ENST00000498729.2 - 21 2108 c.1862C>T c.(1861-1863)aCg>aTg p.T621M KIF1A_ENST00000320389.7_Missense_Mutation_p.T612M NM_001244008.1 NP_001230937.1 Q12756 KIF1A_HUMAN kinesin family member 1A 612 anterograde axon cargo transport cytoplasm|microtubule|nucleus ATP binding|microtubule motor activity p.T612M(1) NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1) 66 all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244) Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176) CTCAGCTGGCGTCTCCGCACA 0.642000 6 11 0 0 0.021553 0 0 HECTD4 283450 broad.mit.edu 37 12 112694164 112694164 + Missense_Mutation SNP C C G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr12:112694164C>G ENST00000550722.1 - 21 3244 c.2849G>C c.(2848-2850)aGa>aCa p.R950T HECTD4_ENST00000430131.2_Missense_Mutation_p.R664T|HECTD4_ENST00000377560.5_Missense_Mutation_p.R914T NM_001109662.3 NP_001103132.3 HECT domain containing E3 ubiquitin protein ligase 4 p.R664T(1)|p.R914T(1) GCTATCAAATCTAAGGTACAG 0.443000 26 101 0 0 0.134883 0 0 WNK4 65266 broad.mit.edu 37 17 40936120 40936120 + Silent SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr17:40936120C>T ENST00000246914.5 + 3 978 c.957C>T c.(955-957)atC>atT p.I319I NM_032387.4 NP_115763.2 Q96J92 WNK4_HUMAN WNK lysine deficient protein kinase 4 319 Protein kinase. intracellular protein kinase cascade tight junction ATP binding|protein serine/threonine kinase activity p.I319I(1) NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1) 35 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.0749) CTGTCAAAATCGGGGACCTGG 0.597000 64 202 0 0 0.139131 0 0 REG3G 130120 broad.mit.edu 37 2 79254983 79254983 + Missense_Mutation SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr2:79254983G>A ENST00000272324.5 + 5 568 c.384G>A c.(382-384)atG>atA p.M128I REG3G_ENST00000393897.2_Missense_Mutation_p.M128I|REG3G_ENST00000409471.1_Missense_Mutation_p.M82I NM_001008387.2 NP_001008388.1 Q6UW15 REG3G_HUMAN regenerating islet-derived 3 gamma 128 C-type lectin. acute-phase response extracellular region sugar binding p.M128I(1) NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 CTGATGTGATGAATTACTTTG 0.502000 45 174 0 0 0.117977 0 0 AXIN1 8312 broad.mit.edu 37 16 347183 347183 + Nonsense_Mutation SNP C C A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr16:347183C>A ENST00000262320.3 - 7 2199 c.1828G>T c.(1828-1830)Gag>Tag p.E610* AXIN1_ENST00000354866.3_Nonsense_Mutation_p.E610* NM_003502.3 NP_003493.1 O15169 AXIN1_HUMAN axin 1 610 Interaction with PPP2CA.|Interaction with RNF111. activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding p.E610*(1) biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2) 221 all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187) TTCCCCGACTCAGCCTTCTTG 0.612000 88 308 3.33393e-45 3.68753e-45 0.139131 1 0 CTH 1491 broad.mit.edu 37 1 70897873 70897873 + Missense_Mutation SNP C C G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr1:70897873C>G ENST00000411986.2 + 7 934 c.736C>G c.(736-738)Cag>Gag p.Q246E CTH_ENST00000346806.2_Missense_Mutation_p.Q234E|CTH_ENST00000370938.3_Missense_Mutation_p.Q278E NM_001190463.1 NP_001177392.1 P32929 CGL_HUMAN cystathionase (cystathionine gamma-lyase) 278 cysteine biosynthetic process|hydrogen sulfide biosynthetic process|protein homotetramerization|protein-pyridoxal-5-phosphate linkage via peptidyl-N6-pyridoxal phosphate-L-lysine cytoplasm|nucleus cystathionine gamma-lyase activity|L-cysteine desulfhydrase activity|pyridoxal phosphate binding p.Q278E(1) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 18 L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114) GGCAGTTGCCCAGTTCCTGGA 0.403000 67 23 0 0 0.139131 0 0 FAM120C 54954 broad.mit.edu 37 X 54143003 54143003 + Missense_Mutation SNP G G C TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chrX:54143003G>C ENST00000375180.2 - 10 2343 c.2287C>G c.(2287-2289)Ctg>Gtg p.L763V FAM120C_ENST00000328235.4_Missense_Mutation_p.L763V NM_017848.4 NP_060318.3 Q9NX05 F120C_HUMAN family with sequence similarity 120C 763 p.L763V(1) breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 28 ATGAGCAGCAGATGGGTGGGG 0.478000 14 83 0 0 0.146539 0 0 SVEP1 79987 broad.mit.edu 37 9 113213596 113213596 + Missense_Mutation SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr9:113213596G>A ENST00000401783.2 - 23 4210 c.3874C>T c.(3874-3876)Cgt>Tgt p.R1292C SVEP1_ENST00000374469.1_Missense_Mutation_p.R1269C|SVEP1_ENST00000302728.8_Missense_Mutation_p.R1292C|SVEP1_ENST00000467821.1_5'UTR NM_153366.3 NP_699197.3 Q4LDE5 SVEP1_HUMAN sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 1292 EGF-like 3; calcium-binding (Potential). cell adhesion cytoplasm|extracellular region|membrane calcium ion binding p.R1292C(1) NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4) 147 CATGTGCAACGATAGCCAGCC 0.373000 30 14 0 0 0.134883 0 0 ADAMTS12 81792 broad.mit.edu 37 5 33614349 33614349 + Missense_Mutation SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr5:33614349C>T ENST00000504830.1 - 16 2856 c.2521G>A c.(2521-2523)Ggg>Agg p.G841R ADAMTS12_ENST00000352040.3_Missense_Mutation_p.G756R|ADAMTS12_ENST00000504582.1_5'UTR NM_030955.2 NP_112217.2 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 12 841 TSP type-1 2. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.G841R(1) NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 216 TCACCTGTCCCGCAGGTCACA 0.507000 HNSCC(64;0.19) 17 34 0 0 0.146539 0 0 STUB1 10273 broad.mit.edu 37 16 731323 731323 + Missense_Mutation SNP G G C TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr16:731323G>C ENST00000565677.1 + 2 722 c.115G>C c.(115-117)Gat>Cat p.D39H STUB1_ENST00000564370.1_Missense_Mutation_p.D39H|STUB1_ENST00000219548.4_Missense_Mutation_p.D111H|STUB1_ENST00000566181.2_3'UTR Q9UNE7 CHIP_HUMAN STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase 111 cellular response to misfolded protein|DNA repair|misfolded or incompletely synthesized protein catabolic process|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K63-linked ubiquitination|protein maturation|regulation of glucocorticoid metabolic process|ubiquitin-dependent SMAD protein catabolic process cytoplasm|nuclear inclusion body|ubiquitin conjugating enzyme complex|ubiquitin ligase complex Hsp70 protein binding|Hsp90 protein binding|kinase binding|misfolded protein binding|protein binding, bridging|protein homodimerization activity|SMAD binding|TPR domain binding|ubiquitin-ubiquitin ligase activity p.D111H(1) endometrium(2)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 6 Hepatocellular(780;0.00335) GGAGAGCTATGATGAGGCCAT 0.667000 18 44 0 0 0.038395 0 0 MED10 84246 broad.mit.edu 37 5 6378552 6378552 + Silent SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr5:6378552G>A ENST00000255764.3 - 1 155 c.45C>T c.(43-45)ttC>ttT p.F15F NM_032286.2 NP_115662.2 Q9BTT4 MED10_HUMAN mediator complex subunit 10 15 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex p.F15F(1) kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|urinary_tract(1) 5 TGTTCTCCACGAACTTCTCCA 0.652000 23 14 0 0 0.076483 0 0 VILL 50853 broad.mit.edu 37 3 38039653 38039653 + Silent SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr3:38039653G>A ENST00000283713.6 + 8 1103 c.837G>A c.(835-837)caG>caA p.Q279Q VILL_ENST00000465644.1_Intron|VILL_ENST00000383759.2_Silent_p.Q279Q O15195 VILL_HUMAN villin-like 279 actin filament capping|cytoskeleton organization actin cytoskeleton actin binding|structural constituent of cytoskeleton p.Q279Q(1) cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2) 28 KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661) ACCTGCTGCAGGAGGAGGTGA 0.642000 11 35 0 0 0.069234 0 0 SPAG7 9552 broad.mit.edu 37 17 4863785 4863785 + Nonsense_Mutation SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr17:4863785G>A ENST00000573366.1 - 3 916 c.58C>T c.(58-60)Cag>Tag p.Q20* SPAG7_ENST00000206020.3_Nonsense_Mutation_p.Q71*|SPAG7_ENST00000575142.1_Nonsense_Mutation_p.Q60* O75391 SPAG7_HUMAN sperm associated antigen 7 71 nucleus nucleic acid binding|protein binding p.Q71*(1) central_nervous_system(1)|endometrium(1)|kidney(2)|lung(3)|ovary(2)|urinary_tract(1) 10 TTCATTGGCTGAAACTTTTTC 0.532000 59 67 0 0 0.139131 0 0 VPS13B 157680 broad.mit.edu 37 8 100833675 100833675 + Missense_Mutation SNP G G C TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr8:100833675G>C ENST00000358544.2 + 50 9334 c.9223G>C c.(9223-9225)Gaa>Caa p.E3075Q VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.E3050Q NM_017890.4 NP_060360.3 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 3075 protein transport p.E3050Q(1)|p.E3075Q(1) 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) TGTTGATACTGAAATAAGACT 0.418000 22 146 0 0 0.076483 0 0 NUP188 23511 broad.mit.edu 37 9 131721315 131721315 + Missense_Mutation SNP G G C TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr9:131721315G>C ENST00000372577.2 + 8 508 c.487G>C c.(487-489)Gat>Cat p.D163H NM_015354.1 NP_056169.1 Q5SRE5 NU188_HUMAN nucleoporin 188kDa 163 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding p.D163H(1) breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 60 AGACTGTGTTGATAAATTGGA 0.289000 29 45 0 0 0.116897 0 0 PSMD12 5718 broad.mit.edu 37 17 65340841 65340841 + Nonsense_Mutation SNP C C A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr17:65340841C>A ENST00000356126.3 - 9 1071 c.964G>T c.(964-966)Gag>Tag p.E322* PSMD12_ENST00000357146.4_Nonsense_Mutation_p.E302* NM_002816.3 NP_002807.1 O00232 PSD12_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 12 322 PCI. anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction proteasome regulatory particle protein binding p.E322*(1) breast(1)|large_intestine(4)|lung(6)|pancreas(1)|urinary_tract(1) 13 all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13) CCATAGTCCTCAACAAGTGTG 0.363000 13 61 4.7546e-09 4.99404e-09 0.146539 1 0 GUCY1A2 2977 broad.mit.edu 37 11 106558469 106558469 + Missense_Mutation SNP C C G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr11:106558469C>G ENST00000526355.2 - 8 2473 c.2005G>C c.(2005-2007)Gaa>Caa p.E669Q GUCY1A2_ENST00000347596.2_Missense_Mutation_p.E690Q|GUCY1A2_ENST00000282249.2_Missense_Mutation_p.E700Q NM_000855.2 NP_000846.1 P33402 GCYA2_HUMAN guanylate cyclase 1, soluble, alpha 2 intracellular signal transduction|platelet activation cytoplasm GTP binding|guanylate cyclase activity|heme binding p.E669Q(1) breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068) BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476) AAACTTTCTTCTCGTTTTAAT 0.408000 41 57 0 0 0.111260 0 0 ROBO4 54538 broad.mit.edu 37 11 124757704 124757704 + Missense_Mutation SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr11:124757704G>A ENST00000306534.3 - 13 2466 c.1981C>T c.(1981-1983)Cgg>Tgg p.R661W ROBO4_ENST00000533054.1_Missense_Mutation_p.R516W NM_019055.5 NP_061928.4 Q8WZ75 ROBO4_HUMAN roundabout, axon guidance receptor, homolog 4 (Drosophila) 661 angiogenesis|cell differentiation integral to membrane receptor activity p.R661W(1) NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3) 76 all_hematologic(175;0.215) Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301) TGGCTGCCCCGGAGCAGTGGG 0.577000 29 23 0 0 0.045705 0 0 C12orf74 338809 broad.mit.edu 37 12 93100519 93100519 + Missense_Mutation SNP G G C TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr12:93100519G>C ENST00000544406.2 + 2 378 c.112G>C c.(112-114)Gac>Cac p.D38H C12orf74_ENST00000397833.3_Missense_Mutation_p.D38H Q32Q52 CL074_HUMAN chromosome 12 open reading frame 74 38 p.D38H(1) kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2) 10 CCTCCAGTTTGACCGGCAAGC 0.622000 23 70 0 0 0.116897 0 0 EFHC2 80258 broad.mit.edu 37 X 44108098 44108098 + Missense_Mutation SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chrX:44108098C>T ENST00000420999.1 - 6 1006 c.923G>A c.(922-924)gGt>gAt p.G308D NM_025184.3 NP_079460.2 Q5JST6 EFHC2_HUMAN EF-hand domain (C-terminal) containing 2 308 DM10 2. calcium ion binding p.G308D(1) NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1) 29 TATAAAGTCACCATATGAATT 0.398000 38 45 0 0 0.092188 0 0 RXRA 6256 broad.mit.edu 37 9 137300844 137300844 + Silent SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr9:137300844G>A ENST00000540193.1 + 3 1121 c.198G>A c.(196-198)gtG>gtA p.V66V RXRA_ENST00000356384.4_3'UTR|RXRA_ENST00000481739.1_Silent_p.V163V P19793 RXRA_HUMAN retinoid X receptor, alpha 163 Modulating (By similarity). cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process nuclear chromatin|nucleoplasm enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding p.V163V(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07) Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926) AGCGGACGGTGCGCAAGGACC 0.642000 64 32 0 0 0.139131 0 0 MED12 9968 broad.mit.edu 37 X 70345221 70345221 + Missense_Mutation SNP G G T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chrX:70345221G>T ENST00000333646.6 + 16 2446 c.2247G>T c.(2245-2247)gaG>gaT p.E749D MED12_ENST00000374080.3_Missense_Mutation_p.E749D|MED12_ENST00000374102.1_Missense_Mutation_p.E749D NM_005120.2 NP_005111.2 Q93074 MED12_HUMAN mediator complex subunit 12 749 androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding p.E749D(2) breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3) 420 Renal(35;0.156) GCAGCCATGAGTGCAACCAGC 0.542000 """M, S""" uterine leiomyoma Opitz-Kaveggia Syndrome 46 26 3.76525e-18 4.05702e-18 0.139131 1 0 DARS2 55157 broad.mit.edu 37 1 173795914 173795914 + Missense_Mutation SNP C C A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr1:173795914C>A ENST00000361951.4 + 2 944 c.217C>A c.(217-219)Cag>Aag p.Q73K DARS2_ENST00000239457.5_5'UTR NM_018122.4 NP_060592.2 Q6PI48 SYDM_HUMAN aspartyl-tRNA synthetase 2, mitochondrial 73 tRNA aminoacylation for protein translation mitochondrial matrix|nucleus aspartate-tRNA ligase activity|ATP binding|nucleic acid binding p.Q73K(1) breast(4)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1) 30 L-Aspartic Acid(DB00128) TGGATGGATTCAGTACCGAAG 0.423000 53 43 6.27289e-28 6.83464e-28 0.139131 1 0 JSRP1 126306 broad.mit.edu 37 19 2254207 2254207 + Missense_Mutation SNP C C G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr19:2254207C>G ENST00000300961.6 - 4 305 c.241G>C c.(241-243)Gag>Cag p.E81Q JSRP1_ENST00000586471.2_Missense_Mutation_p.E81Q NM_144616.3 NP_653217.1 Q96MG2 JSPR1_HUMAN junctional sarcoplasmic reticulum protein 1 sarcoplasmic reticulum membrane p.E81Q(1) haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|pancreas(1)|urinary_tract(1) 6 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) TTCAGCCTCTCCTTCCCCGTT 0.637000 OREG0025137 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 63 167 0 0 0.139131 0 0 NSFL1C 55968 broad.mit.edu 37 20 1433180 1433180 + Missense_Mutation SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr20:1433180C>T ENST00000216879.4 - 7 1610 c.743G>A c.(742-744)gGa>gAa p.G248E NSFL1C_ENST00000461211.1_5'UTR|NSFL1C_ENST00000476071.1_Missense_Mutation_p.G250E|NSFL1C_ENST00000381658.4_Missense_Mutation_p.G137E|NSFL1C_ENST00000350991.4_Missense_Mutation_p.G250E|NSFL1C_ENST00000353088.2_Missense_Mutation_p.G217E NM_016143.4 NP_057227.2 Q9UNZ2 NSF1C_HUMAN NSFL1 (p97) cofactor (p47) 248 chromosome|Golgi stack|nucleus lipid binding|protein binding p.G248E(1) breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 16 TTTGAAGGCTCCTTTGGGCTT 0.577000 146 330 0 0 0.139131 0 0 SETBP1 26040 broad.mit.edu 37 18 42530401 42530401 + Missense_Mutation SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr18:42530401G>A ENST00000282030.5 + 4 1392 c.1096G>A c.(1096-1098)Gaa>Aaa p.E366K NM_015559.2 NP_056374.2 Q9Y6X0 SETBP_HUMAN SET binding protein 1 366 nucleus DNA binding p.E366K(2)|p.E312K(2) NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 104 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) TGACAATACAGAAGGGAAAAG 0.453000 Schinzel-Giedion syndrome 20 54 0 0 0.055883 0 0 TG 7038 broad.mit.edu 37 8 133906095 133906095 + Silent SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr8:133906095G>A ENST00000220616.4 + 11 2962 c.2922G>A c.(2920-2922)ccG>ccA p.P974P TG_ENST00000377869.1_Silent_p.P974P NM_003235.4 NP_003226.4 P01266 THYG_HUMAN thyroglobulin 974 Thyroglobulin type-1 8. hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity p.P974P(1) NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8) 168 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) GCCTTCCTCCGCTCTTCCCGC 0.602000 31 168 0 0 0.144211 0 0 OR5M8 219484 broad.mit.edu 37 11 56258184 56258184 + Silent SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr11:56258184G>A ENST00000327216.2 - 1 687 c.663C>T c.(661-663)ttC>ttT p.F221F NM_001005282.1 NP_001005282.1 Q8NGP6 OR5M8_HUMAN olfactory receptor, family 5, subfamily M, member 8 221 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.F221F(1) breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 37 Esophageal squamous(21;0.00352) AAATAGCAGGGAAAATGTAAA 0.408000 18 46 0 0 0.033300 0 0 XPO6 23214 broad.mit.edu 37 16 28137114 28137114 + Silent SNP C C G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr16:28137114C>G ENST00000304658.5 - 13 2162 c.1662G>C c.(1660-1662)ctG>ctC p.L554L XPO6_ENST00000565698.1_Silent_p.L540L NM_015171.3 NP_055986.1 Q96QU8 XPO6_HUMAN exportin 6 554 protein export from nucleus protein binding|protein transporter activity p.L554L(2) breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 25 TCAAGTCTCTCAGGGAGCAGT 0.592000 46 118 0 0 0.139131 0 0 KMT2D 8085 broad.mit.edu 37 12 49416552 49416552 + Nonsense_Mutation SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr12:49416552G>A ENST00000301067.7 - 51 16158 c.16159C>T c.(16159-16161)Cag>Tag p.Q5387* NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D p.Q5387*(1)|p.Q5117*(1) CGCCGGTACTGAGATGACTTG 0.562000 27 25 0 0 0.139131 0 0 SLTM 79811 broad.mit.edu 37 15 59179725 59179725 + Missense_Mutation SNP A A T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr15:59179725A>T ENST00000380516.2 - 18 2477 c.2390T>A c.(2389-2391)gTt>gAt p.V797D SLTM_ENST00000536328.1_Missense_Mutation_p.V366D NM_001013843.1|NM_024755.2 NP_001013865.1|NP_079031.2 Q9NWH9 SLTM_HUMAN SAFB-like, transcription modulator 797 Arg/Glu-rich. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleotide binding|RNA binding p.V797D(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 ACTTTGACCAACAAAGCGATC 0.403000 41 101 0 0 0.092188 0 0 PRX 57716 broad.mit.edu 37 19 40901603 40901603 + Missense_Mutation SNP C C G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr19:40901603C>G ENST00000324001.7 - 7 2926 c.2656G>C c.(2656-2658)Gag>Cag p.E886Q PRX_ENST00000291825.7_3'UTR NM_181882.2 NP_870998.2 Q9BXM0 PRAX_HUMAN periaxin 886 axon ensheathment cytoplasm|nucleus|plasma membrane protein binding p.E886Q(1) breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9) 47 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) GCTGCCACCTCAGGGCCCTCC 0.637000 13 114 0 0 0.050027 0 0 UTP14A 10813 broad.mit.edu 37 X 129059059 129059059 + Missense_Mutation SNP C C G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chrX:129059059C>G ENST00000394422.3 + 12 1665 c.1637C>G c.(1636-1638)cCt>cGt p.P546R UTP14A_ENST00000371042.3_Missense_Mutation_p.P378R|RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000425117.2_Missense_Mutation_p.P494R|UTP14A_ENST00000371051.5_Missense_Mutation_p.P492R NM_006649.3 NP_006640.2 Q9BVJ6 UT14A_HUMAN UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast) 546 rRNA processing nucleolus|small-subunit processome protein binding p.P546R(1) breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1) 32 AATAATCGCCCTGATGCCCCT 0.478000 165 163 0 0 0.139131 0 0 SLC6A20 54716 broad.mit.edu 37 3 45811793 45811793 + Missense_Mutation SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr3:45811793C>T ENST00000358525.4 - 7 1121 c.1006G>A c.(1006-1008)Gtg>Atg p.V336M SLC6A20_ENST00000456124.2_Missense_Mutation_p.V336M|SLC6A20_ENST00000353278.4_Missense_Mutation_p.V299M NM_020208.3 NP_064593.1 Q9NP91 S6A20_HUMAN solute carrier family 6 (proline IMINO transporter), member 20 336 cellular nitrogen compound metabolic process|glycine transport|proline transport apical plasma membrane|integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity p.V299M(1)|p.V336M(1) breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1) 13 BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267) TAGCCCTTCACCTGCTCCAGG 0.517000 15 61 0 0 0.119110 0 0 XYLT1 64131 broad.mit.edu 37 16 17353054 17353054 + Missense_Mutation SNP C C G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr16:17353054C>G ENST00000261381.6 - 3 788 c.704G>C c.(703-705)aGa>aCa p.R235T NM_022166.3 NP_071449.1 Q86Y38 XYLT1_HUMAN xylosyltransferase I 235 glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity p.R235T(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 ATGAGGCGGTCTGGACACATC 0.612000 47 187 0 0 0.139131 0 0 ZNF671 79891 broad.mit.edu 37 19 58232870 58232870 + Missense_Mutation SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr19:58232870C>T ENST00000317398.6 - 4 679 c.584G>A c.(583-585)gGg>gAg p.G195E ZNF671_ENST00000335820.3_Missense_Mutation_p.G97E|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron NM_024833.2 NP_079109.2 Q8TAW3 ZN671_HUMAN zinc finger protein 671 195 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.G195E(1) kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) TCCACATGCCCCACACAAGTA 0.488000 57 209 0 0 0.139131 0 0 C11orf30 56946 broad.mit.edu 37 11 76257009 76257009 + Missense_Mutation SNP G G C TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr11:76257009G>C ENST00000529032.1 + 19 3442 c.3442G>C c.(3442-3444)Gac>Cac p.D1148H C11orf30_ENST00000533248.1_Missense_Mutation_p.D1057H|C11orf30_ENST00000524767.1_Missense_Mutation_p.D1163H|C11orf30_ENST00000525919.1_Missense_Mutation_p.D1149H|C11orf30_ENST00000334736.3_Missense_Mutation_p.D1148H|C11orf30_ENST00000524490.1_Missense_Mutation_p.D1050H|C11orf30_ENST00000525038.1_Missense_Mutation_p.D1149H|C11orf30_ENST00000343878.3_Intron Q7Z589 EMSY_HUMAN chromosome 11 open reading frame 30 1148 chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus p.D1148H(1) NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2) 60 AGCAGTGTCTGACATTTTGAA 0.438000 25 70 0 0 0.083992 0 0 NLRP14 338323 broad.mit.edu 37 11 7079046 7079046 + Missense_Mutation SNP A A C TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr11:7079046A>C ENST00000299481.4 + 7 2776 c.2430A>C c.(2428-2430)ttA>ttC p.L810F NM_176822.3 NP_789792.1 Q86W24 NAL14_HUMAN NLR family, pyrin domain containing 14 810 cell differentiation|multicellular organismal development|spermatogenesis ATP binding p.L810F(1) breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 21 Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871) GTGAGGCCTTAAGACATCCAA 0.393000 25 45 0 0 0.099896 0 0 C12orf74 338809 broad.mit.edu 37 12 93100450 93100450 + Missense_Mutation SNP G G C TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr12:93100450G>C ENST00000544406.2 + 2 309 c.43G>C c.(43-45)Gac>Cac p.D15H C12orf74_ENST00000397833.3_Missense_Mutation_p.D15H Q32Q52 CL074_HUMAN chromosome 12 open reading frame 74 15 p.D15H(1) kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2) 10 GCCACCCCAAGACTGTGGAGC 0.557000 17 55 0 0 0.033300 0 0 TSPAN8 7103 broad.mit.edu 37 12 71526475 71526475 + Missense_Mutation SNP C C G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr12:71526475C>G ENST00000393330.2 - 10 1126 c.574G>C c.(574-576)Gag>Cag p.E192Q TSPAN8_ENST00000552128.1_Missense_Mutation_p.E109Q|TSPAN8_ENST00000546561.1_Missense_Mutation_p.E192Q|TSPAN8_ENST00000247829.3_Missense_Mutation_p.E192Q P19075 TSN8_HUMAN tetraspanin 8 192 protein glycosylation integral to membrane|lysosome signal transducer activity p.E192Q(1) breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1) 19 LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244) GTTCTCACCTCTTTGTAAACT 0.343000 34 120 0 0 0.054565 0 0 PSPC1 55269 broad.mit.edu 37 13 20315736 20315736 + Missense_Mutation SNP C C G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr13:20315736C>G ENST00000338910.4 - 5 1180 c.1021G>C c.(1021-1023)Gag>Cag p.E341Q NM_001042414.2 NP_001035879.1 Q8WXF1 PSPC1_HUMAN paraspeckle component 1 341 Sufficient for paraspeckles localization.|Sufficient for perinucleolar caps localization and interaction with NONO. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nuclear matrix|nucleolus nucleotide binding|protein binding|RNA binding p.E341Q(1) breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 23 all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483) TTTTGCAACTCTTGGTTTCTG 0.328000 21 91 0 0 0.108266 0 0 PSME4 23198 broad.mit.edu 37 2 54159084 54159084 + Nonsense_Mutation SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr2:54159084G>A ENST00000404125.1 - 10 1259 c.1204C>T c.(1204-1206)Cag>Tag p.Q402* PSME4_ENST00000421748.2_Intron NM_014614.2 NP_055429.2 Q14997 PSME4_HUMAN proteasome (prosome, macropain) activator subunit 4 402 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction nuclear speck|proteasome complex binding p.Q402*(1)|p.Q288*(1) breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2) 60 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) AGGACAGGCTGAATAATGCAT 0.453000 44 57 0 0 0.117977 0 0 GAD2 2572 broad.mit.edu 37 10 26581833 26581833 + Silent SNP T T C TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr10:26581833T>C ENST00000376261.3 + 15 2000 c.1497T>C c.(1495-1497)ccT>ccC p.P499P GAD2_ENST00000259271.3_Silent_p.P499P NM_001134366.1 NP_001127838.1 Q05329 DCE2_HUMAN glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) 499 glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding p.P499P(1) central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 L-Glutamic Acid(DB00142) CTTTGTAGCCTCAGCACACAA 0.448000 116 281 0 0 0.139131 0 0 ACACB 32 broad.mit.edu 37 12 109702924 109702924 + Missense_Mutation SNP G G C TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr12:109702924G>C ENST00000338432.7 + 51 7071 c.6952G>C c.(6952-6954)Gag>Cag p.E2318Q ACACB_ENST00000377854.5_Missense_Mutation_p.E2248Q|ACACB_ENST00000377848.3_Missense_Mutation_p.E2318Q|ACACB_ENST00000543201.1_3'UTR O00763 ACACB_HUMAN acetyl-CoA carboxylase beta 2318 acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding p.E2318*(1)|p.E2318Q(1) NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 Biotin(DB00121) GGACATCCTGGAGTGGAAGAC 0.647000 30 150 0 0 0.134883 0 0 OR6Y1 391112 broad.mit.edu 37 1 158516978 158516978 + Silent SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr1:158516978G>A ENST00000302617.3 - 1 917 c.918C>T c.(916-918)ctC>ctT p.L306L NM_001005189.1 NP_001005189.1 Q8NGX8 OR6Y1_HUMAN olfactory receptor, family 6, subfamily Y, member 1 306 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L306L(1) NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 30 all_hematologic(112;0.0378) TGGTCTTTCTGAGGGCTGCCT 0.438000 28 83 0 0 0.099896 0 0 LDB2 9079 broad.mit.edu 37 4 16900009 16900009 + Missense_Mutation SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr4:16900009C>T ENST00000502640.1 - 1 248 c.100G>A c.(100-102)Gag>Aag p.E34K LDB2_ENST00000441778.2_Missense_Mutation_p.E34K|LDB2_ENST00000515064.1_Missense_Mutation_p.E34K|LDB2_ENST00000304523.5_Missense_Mutation_p.E34K O43679 LDB2_HUMAN LIM domain binding 2 34 LIM domain binding|transcription cofactor activity p.E34K(2) breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1) 33 TTGTTCATCTCATAGATTCGG 0.453000 68 76 0 0 0.139131 0 0 TNRC18 84629 broad.mit.edu 37 7 5352441 5352441 + Missense_Mutation SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr7:5352441G>A ENST00000399537.4 - 27 8429 c.8081C>T c.(8080-8082)tCc>tTc p.S2694F TNRC18_ENST00000430969.1_Missense_Mutation_p.S2694F O15417 TNC18_HUMAN trinucleotide repeat containing 18 2694 DNA binding p.S2694F(2)|p.P1207S(1) central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8) 11 Ovarian(82;0.142) UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15) CGCCTGCGCGGAAGGGCCAGC 0.716000 5 13 0 0 0.014758 0 0 TMEM132D 121256 broad.mit.edu 37 12 129559559 129559559 + Missense_Mutation SNP T T G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr12:129559559T>G ENST00000422113.2 - 9 2487 c.2161A>C c.(2161-2163)Acg>Ccg p.T721P TMEM132D_ENST00000389441.4_Missense_Mutation_p.T259P NM_133448.2 NP_597705.2 Q14C87 T132D_HUMAN transmembrane protein 132D 721 integral to membrane p.T721P(1) NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) TCCAAGGGCGTGACTGAGCCA 0.473000 31 100 0 0 0.059317 0 0 SLC25A27 9481 broad.mit.edu 37 6 46644165 46644165 + Missense_Mutation SNP G G C TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr6:46644165G>C ENST00000371347.5 + 9 1198 c.946G>C c.(946-948)Gag>Cag p.E316Q RP11-446F17.3_ENST00000571590.1_RNA|SLC25A27_ENST00000452689.2_Missense_Mutation_p.E230Q|RP11-446F17.3_ENST00000434329.2_RNA|SLC25A27_ENST00000411689.2_Intron|RP11-446F17.3_ENST00000422284.2_RNA NM_001204051.1|NM_004277.4 NP_001190980.1|NP_004268.3 O95847 UCP4_HUMAN solute carrier family 25, member 27 316 generation of precursor metabolites and energy|transport integral to membrane|mitochondrial inner membrane p.E316Q(1) central_nervous_system(1)|kidney(1)|lung(4)|prostate(1)|urinary_tract(1) 8 Lung(136;0.192) AAAAATCAGAGAGATGAGTGG 0.368000 29 43 0 0 0.144211 0 0 PRX 57716 broad.mit.edu 37 19 40900472 40900472 + Missense_Mutation SNP C C G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr19:40900472C>G ENST00000324001.7 - 7 4057 c.3787G>C c.(3787-3789)Gag>Cag p.E1263Q PRX_ENST00000291825.7_3'UTR NM_181882.2 NP_870998.2 Q9BXM0 PRAX_HUMAN periaxin 1263 axon ensheathment cytoplasm|nucleus|plasma membrane protein binding p.E1263Q(1) breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9) 47 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) GGGGGCTGCTCCTCAGCACCC 0.706000 10 24 0 0 0.058154 0 0 GPR174 84636 broad.mit.edu 37 X 78427144 78427144 + Missense_Mutation SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chrX:78427144G>A ENST00000276077.1 + 1 676 c.640G>A c.(640-642)Gat>Aat p.D214N NM_032553.1 NP_115942.1 Q9BXC1 GP174_HUMAN G protein-coupled receptor 174 214 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled p.D214N(1) central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 38 ATCACTGCAAGATAAATATCC 0.428000 HNSCC(63;0.18) 31 99 0 0 0.059317 0 0 SLC26A3 1811 broad.mit.edu 37 7 107423661 107423661 + Missense_Mutation SNP C C G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr7:107423661C>G ENST00000340010.5 - 9 1292 c.1108G>C c.(1108-1110)Gat>Cat p.D370H SLC26A3_ENST00000422236.2_Missense_Mutation_p.D335H NM_000111.2 NP_000102.1 P40879 S26A3_HUMAN solute carrier family 26 (anion exchanger), member 3 370 excretion integral to membrane|membrane fraction inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity p.D370H(1) breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 TGATTGCCATCAAGTGGATAA 0.423000 68 77 0 0 0.139131 0 0 BCAS1 8537 broad.mit.edu 37 20 52645197 52645197 + Missense_Mutation SNP T T A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr20:52645197T>A ENST00000395961.3 - 4 623 c.457A>T c.(457-459)Acc>Tcc p.T153S BCAS1_ENST00000371435.2_Missense_Mutation_p.T153S|BCAS1_ENST00000371440.3_Missense_Mutation_p.T153S|BCAS1_ENST00000411563.1_Missense_Mutation_p.T56S NM_003657.2 NP_003648.2 O75363 BCAS1_HUMAN breast carcinoma amplified sequence 1 153 cytoplasm protein binding p.T153S(1) NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1) 37 Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05) STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198) TGCCCTGGGGTTTTATCTGTG 0.612000 104 121 0 0 0.139131 0 0 CIRH1A 84916 broad.mit.edu 37 16 69199280 69199280 + Missense_Mutation SNP G G C TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr16:69199280G>C ENST00000563094.1 + 15 1718 c.1684G>C c.(1684-1686)Gat>Cat p.D562H CIRH1A_ENST00000352319.4_Missense_Mutation_p.D447H|CIRH1A_ENST00000314423.7_Missense_Mutation_p.D562H Q969X6 CIR1A_HUMAN cirrhosis, autosomal recessive 1A (cirhin) 562 nucleolus protein binding p.D562H(1)|p.D562Y(1) breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1) 16 OV - Ovarian serous cystadenocarcinoma(108;0.125) ACAGTATACAGATTGGAGCCG 0.488000 11 52 0 0 0.069234 0 0 TNRC6A 27327 broad.mit.edu 37 16 24815594 24815594 + Missense_Mutation SNP A A G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr16:24815594A>G ENST00000395799.3 + 12 3920 c.3791A>G c.(3790-3792)cAg>cGg p.Q1264R TNRC6A_ENST00000315183.7_Missense_Mutation_p.Q1264R|CTD-2515A14.1_ENST00000568895.1_RNA NM_014494.2 NP_055309.2 Q8NDV7 TNR6A_HUMAN trinucleotide repeat containing 6A 1264 Sufficient for interaction with EIF2C1 and EIF2C4. negative regulation of translation involved in gene silencing by miRNA cytoplasmic mRNA processing body|micro-ribonucleoprotein complex nucleotide binding|RNA binding p.Q1264R(1) breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 GBM - Glioblastoma multiforme(48;0.0394) TCTCGGCCTCAGATTTCCAAA 0.393000 40 42 0 0 0.098360 0 0 BRINP2 57795 broad.mit.edu 37 1 177245564 177245564 + Missense_Mutation SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr1:177245564G>A ENST00000361539.4 + 6 1318 c.1006G>A c.(1006-1008)Gag>Aag p.E336K BRINP2_ENST00000478325.1_3'UTR NM_021165.2 NP_066988.1 bone morphogenetic protein/retinoic acid inducible neural-specific 2 336 p.E336K(1) GCAGTTTGAAGAGTCAGGTGA 0.542000 36 37 0 0 0.074837 0 0 TAF1 6872 broad.mit.edu 37 X 70608124 70608124 + Missense_Mutation SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chrX:70608124G>A ENST00000449580.1 + 16 2513 c.2462G>A c.(2461-2463)cGg>cAg p.R821Q TAF1_ENST00000276072.3_Missense_Mutation_p.R842Q|TAF1_ENST00000373790.4_Missense_Mutation_p.R821Q|TAF1_ENST00000423759.1_Missense_Mutation_p.R842Q P21675 TAF1_HUMAN TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa 821 G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction MLL1 complex|transcription factor TFIID complex ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity p.R821Q(1)|p.R842Q(1) breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3) 124 Renal(35;0.156) all_lung(315;0.000321) AGTAAAGATCGGCCACGGAGG 0.433000 104 82 0 0 0.139131 0 0 ZNF184 7738 broad.mit.edu 37 6 27420988 27420988 + Missense_Mutation SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr6:27420988G>A ENST00000211936.6 - 6 634 c.350C>T c.(349-351)tCt>tTt p.S117F ZNF184_ENST00000377419.1_Missense_Mutation_p.S117F NM_007149.2 NP_009080.2 Q99676 ZN184_HUMAN zinc finger protein 184 117 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.S117F(2) breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 48 CTCTTCTTCAGAAATGTCAGG 0.373000 44 119 0 0 0.117977 0 0 KCNH5 27133 broad.mit.edu 37 14 63246455 63246455 + Silent SNP C C G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr14:63246455C>G ENST00000322893.7 - 10 2278 c.2010G>C c.(2008-2010)ctG>ctC p.L670L KCNH5_ENST00000420622.2_Intron|KCNH5_ENST00000394968.1_Silent_p.L612L NM_139318.3 NP_647479.2 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 5 670 regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity p.L670L(2)|p.L612L(2) NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2) 99 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) CCCGTTTCCTCAGATTGCAAG 0.393000 93 84 0 0 0.139131 0 0 TEPP 374739 broad.mit.edu 37 16 58019836 58019836 + Missense_Mutation SNP C C A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr16:58019836C>A ENST00000290871.5 + 7 894 c.857C>A c.(856-858)tCc>tAc p.S286Y TEPP_ENST00000569996.1_3'UTR|TEPP_ENST00000441824.2_Missense_Mutation_p.S259Y NM_199046.2 NP_950247.2 Q6URK8 TEPP_HUMAN testis, prostate and placenta expressed 259 extracellular region p.S286Y(1) central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1) 8 AGCTTCGGCTCCAGCTACAGG 0.652000 11 33 3.27435e-08 3.41468e-08 0.119110 1 0 SMARCC1 6599 broad.mit.edu 37 3 47752241 47752241 + Missense_Mutation SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr3:47752241C>T ENST00000254480.5 - 9 969 c.850G>A c.(850-852)Gat>Aat p.D284N SMARCC1_ENST00000425518.1_5'UTR NM_003074.3 NP_003065.3 Q92922 SMRC1_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1 284 chromatin remodeling|nervous system development|transcription, DNA-dependent nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex DNA binding|protein N-terminus binding|transcription coactivator activity p.D284N(1) breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01) ACCTCATAATCCTCCTCATTC 0.343000 33 89 0 0 0.064281 0 0 ARSJ 79642 broad.mit.edu 37 4 114899684 114899684 + Missense_Mutation SNP G G C TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr4:114899684G>C ENST00000315366.7 - 1 1173 c.307C>G c.(307-309)Ctt>Gtt p.L103V ARSJ_ENST00000503013.2_5'UTR|ARSJ_ENST00000541197.1_Missense_Mutation_p.L103V NM_024590.3 NP_078866.3 Q5FYB0 ARSJ_HUMAN arylsulfatase family, member J 103 extracellular region arylsulfatase activity|metal ion binding p.L103V(1) endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1) 21 Ovarian(17;0.0035)|Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.00194) AGCTTGTCAAGAGTAGGTGTT 0.458000 48 79 0 0 0.124865 0 0 MYH7 4625 broad.mit.edu 37 14 23885425 23885425 + Missense_Mutation SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr14:23885425C>T ENST00000355349.3 - 34 4903 c.4741G>A c.(4741-4743)Gag>Aag p.E1581K NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 1581 adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.E1581K(1) NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) TCCATCTCCTCGTCCTTCTCT 0.647000 51 368 0 0 0.139131 0 0 OCA2 4948 broad.mit.edu 37 15 28211933 28211933 + Silent SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr15:28211933G>A ENST00000354638.3 - 15 1694 c.1539C>T c.(1537-1539)ttC>ttT p.F513F OCA2_ENST00000353809.5_Silent_p.F489F|OCA2_ENST00000382996.2_Silent_p.F513F NM_000275.2 NP_000266.2 Q04671 P_HUMAN oculocutaneous albinism II 513 eye pigment biosynthetic process endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding p.F513F(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 85 all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234) all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045) AAATCCCAATGAACATGTGTG 0.498000 Oculocutaneous Albinism 22 19 0 0 0.062417 0 0 KDM4D 55693 broad.mit.edu 37 11 94731995 94731995 + Missense_Mutation SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr11:94731995G>A ENST00000335080.5 + 3 2291 c.1459G>A c.(1459-1461)Gaa>Aaa p.E487K KDM4D_ENST00000536741.1_Missense_Mutation_p.E487K NM_018039.2 NP_060509.2 Q6B0I6 KDM4D_HUMAN lysine (K)-specific demethylase 4D 487 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 p.E487K(1) endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 TTCGGGCCCAGAACCTGAGCC 0.622000 23 53 0 0 0.062417 0 0 AASDH 132949 broad.mit.edu 37 4 57250456 57250456 + Nonsense_Mutation SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr4:57250456G>A ENST00000205214.6 - 2 190 c.10C>T c.(10-12)Cag>Tag p.Q4* AASDH_ENST00000451613.1_Nonsense_Mutation_p.Q4*|AASDH_ENST00000502617.1_Nonsense_Mutation_p.Q4*|AASDH_ENST00000510762.1_Intron|AASDH_ENST00000513376.1_Intron|AASDH_ENST00000434343.2_5'UTR|AASDH_ENST00000602986.1_5'UTR NM_181806.2 NP_861522.2 Q4L235 ACSF4_HUMAN aminoadipate-semialdehyde dehydrogenase 4 fatty acid metabolic process acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding p.Q4*(1) endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1) 40 Glioma(25;0.08)|all_neural(26;0.101) all_hematologic(202;0.0017) ACCAATTCCTGAAGAGTCATT 0.418000 39 76 0 0 0.080422 0 0 PPM1K 152926 broad.mit.edu 37 4 89199513 89199513 + Missense_Mutation SNP T T C TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr4:89199513T>C ENST00000608933.1 - 2 612 c.223A>G c.(223-225)Att>Gtt p.I75V PPM1K_ENST00000514204.1_Missense_Mutation_p.I75V|PPM1K_ENST00000506423.1_5'UTR|PPM1K_ENST00000508256.1_Intron|PPM1K_ENST00000315194.4_Missense_Mutation_p.I75V|PPM1K_ENST00000295908.7_Missense_Mutation_p.I75V NM_152542.4 NP_689755.3 Q8N3J5 PPM1K_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1K protein dephosphorylation mitochondrial matrix|protein serine/threonine phosphatase complex metal ion binding|protein serine/threonine phosphatase activity p.I75V(1) endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1) 13 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000192) GGCAGCAGAATTGGCTCATCA 0.498000 31 35 0 0 0.125774 0 0 HUWE1 10075 broad.mit.edu 37 X 53603879 53603879 + Silent SNP T T C TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chrX:53603879T>C ENST00000342160.3 - 43 6322 c.5865A>G c.(5863-5865)gcA>gcG p.A1955A HUWE1_ENST00000262854.6_Silent_p.A1955A Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 1955 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity p.A1818A(1)|p.A1955A(1) NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 GAGCATGGTATGCAGCCAGAG 0.507000 45 68 0 0 0.139131 0 0 KRT78 196374 broad.mit.edu 37 12 53241751 53241751 + Missense_Mutation SNP C C A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr12:53241751C>A ENST00000359499.4 - 2 220 c.209G>T c.(208-210)cGa>cTa p.R70L KRT78_ENST00000304620.4_Missense_Mutation_p.R180L Q8N1N4 K2C78_HUMAN keratin 78 180 Gly-rich.|Head. keratin filament protein binding|structural molecule activity p.R180L(1) endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 18 CAGAGCCCCTCGTTCTCCCTG 0.607000 24 68 3.6726e-16 3.89964e-16 0.091800 1 0 RPL35A 6165 broad.mit.edu 37 3 197678160 197678160 + Missense_Mutation SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr3:197678160G>A ENST00000464167.1 + 3 409 c.142G>A c.(142-144)Gct>Act p.A48T RPL35A_ENST00000448864.1_Missense_Mutation_p.A48T|IQCG_ENST00000480302.1_Intron|RPL35A_ENST00000329092.8_3'UTR|IQCG_ENST00000265239.6_Intron NM_000996.2 NP_000987.2 P18077 RL35A_HUMAN ribosomal protein L35a 48 endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription cytosol|ribosome protein binding|structural constituent of ribosome|tRNA binding p.A48T(1) lung(1)|prostate(1)|urinary_tract(1) 3 all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976) Lung NSC(153;0.132) Epithelial(36;1.04e-23)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07) GBM - Glioblastoma multiforme(93;0.182) CAAGAGATGCGCTTATGTATA 0.403000 29 85 0 0 0.050027 0 0 PRX 57716 broad.mit.edu 37 19 40901264 40901264 + Missense_Mutation SNP C C G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr19:40901264C>G ENST00000324001.7 - 7 3265 c.2995G>C c.(2995-2997)Gat>Cat p.D999H PRX_ENST00000291825.7_3'UTR NM_181882.2 NP_870998.2 Q9BXM0 PRAX_HUMAN periaxin 999 axon ensheathment cytoplasm|nucleus|plasma membrane protein binding p.D999H(1) breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9) 47 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) AGGTGGGCATCCAGGCTGAGC 0.667000 29 139 0 0 0.144211 0 0 ZNF354B 117608 broad.mit.edu 37 5 178310385 178310385 + Missense_Mutation SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr5:178310385C>T ENST00000322434.3 + 5 1158 c.932C>T c.(931-933)tCt>tTt p.S311F NM_058230.2 NP_478137.1 Q96LW1 Z354B_HUMAN zinc finger protein 354B 311 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.S311F(1) breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1) 21 all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351) all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) AGTCGAAGGTCTGGGCTTTTT 0.418000 18 34 0 0 0.033300 0 0 NCOA5 57727 broad.mit.edu 37 20 44699006 44699006 + Missense_Mutation SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr20:44699006G>A ENST00000290231.6 - 3 372 c.208C>T c.(208-210)Cgg>Tgg p.R70W NM_020967.2 NP_066018.1 Q9HCD5 NCOA5_HUMAN nuclear receptor coactivator 5 70 Arg/Asp-rich (mixed charge).|Transcription repression. regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation nucleus aminoacyl-tRNA ligase activity|ATP binding p.R70W(1) central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1) 21 Myeloproliferative disorder(115;0.0122) CTGTGATCCCGCAAATCTCTA 0.562000 6 330 0 0 0.021553 0 0 GPR45 11250 broad.mit.edu 37 2 105858505 105858505 + Missense_Mutation SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr2:105858505G>A ENST00000258456.1 + 1 306 c.190G>A c.(190-192)Gct>Act p.A64T NM_007227.3 NP_009158.3 Q9Y5Y3 GPR45_HUMAN G protein-coupled receptor 45 64 integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding p.A64T(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1) 28 CCAGAGGCCGGCTATGCGCTC 0.617000 110 46 0 0 0.139131 0 0 ADAMTS10 81794 broad.mit.edu 37 19 8670203 8670203 + Missense_Mutation SNP G G T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr19:8670203G>T ENST00000270328.4 - 3 395 c.129C>A c.(127-129)ttC>ttA p.F43L ADAMTS10_ENST00000596709.1_5'UTR|ADAMTS10_ENST00000597188.1_Missense_Mutation_p.F43L Q9H324 ATS10_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 10 43 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.F43L(1) 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 CGCGGGTGGGGAAGGCGATCT 0.677000 10 13 0.000442599 0.000455067 0.058154 1 0 MYH1 4619 broad.mit.edu 37 17 10400727 10400727 + Missense_Mutation SNP C C G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr17:10400727C>G ENST00000226207.5 - 32 4502 c.4408G>C c.(4408-4410)Gaa>Caa p.E1470Q RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1470 E -> V (in Ref. 4; CAA27380). muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity p.E1470Q(1) NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 GCTTCAAGTTCAGCATGAGTT 0.378000 10 48 0 0 0.080935 0 0 PRX 57716 broad.mit.edu 37 19 40901173 40901173 + Missense_Mutation SNP C C G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr19:40901173C>G ENST00000324001.7 - 7 3356 c.3086G>C c.(3085-3087)aGa>aCa p.R1029T PRX_ENST00000291825.7_3'UTR NM_181882.2 NP_870998.2 Q9BXM0 PRAX_HUMAN periaxin 1029 axon ensheathment cytoplasm|nucleus|plasma membrane protein binding p.R1029T(1) breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9) 47 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) GTCCCGGCCTCTGACCCCAAA 0.637000 26 152 0 0 0.134883 0 0 KLK14 43847 broad.mit.edu 37 19 51582812 51582812 + Silent SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr19:51582812G>A ENST00000391802.1 - 5 626 c.408C>T c.(406-408)ccC>ccT p.P136P KLK14_ENST00000156499.2_Silent_p.P136P NM_022046.4 NP_071329.2 Q9P0G3 KLK14_HUMAN kallikrein-related peptidase 14 136 Peptidase S1. epidermis morphogenesis|fertilization|negative regulation of G-protein coupled receptor protein signaling pathway|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis|seminal clot liquefaction extracellular space serine-type endopeptidase activity p.P120P(1)|p.P136P(1) kidney(4)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1) 11 all_neural(266;0.0199) OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00422) CGATCCGTGCGGGCTGCTGTA 0.657000 8 48 0 0 0.069234 0 0 PHF12 57649 broad.mit.edu 37 17 27254016 27254016 + Missense_Mutation SNP C C G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr17:27254016C>G ENST00000577226.1 - 3 660 c.314G>C c.(313-315)cGc>cCc p.R105P PHF12_ENST00000268756.3_Missense_Mutation_p.R105P|PHF12_ENST00000332830.4_Missense_Mutation_p.R105P|RP11-20B24.5_ENST00000580782.1_RNA|RP11-20B24.5_ENST00000582631.1_RNA Q96QT6 PHF12_HUMAN PHD finger protein 12 105 Interaction with SIN3A. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent transcriptional repressor complex protein binding|zinc ion binding p.R105P(1) breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 30 all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01) Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05) TACCTTTCGGCGAACAGTGCA 0.493000 8 77 0 0 0.038147 0 0 PPP1R2 5504 broad.mit.edu 37 3 195245954 195245954 + Missense_Mutation SNP C C A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr3:195245954C>A ENST00000328432.3 - 5 792 c.432G>T c.(430-432)agG>agT p.R144S NM_006241.4 NP_006232.1 P41236 IPP2_HUMAN protein phosphatase 1, regulatory (inhibitor) subunit 2 144 glycogen metabolic process|regulation of phosphoprotein phosphatase activity|regulation of signal transduction protein binding|protein serine/threonine phosphatase inhibitor activity p.R144S(1) endometrium(2)|kidney(1)|large_intestine(1)|urinary_tract(2) 6 all_cancers(143;1.8e-08)|Ovarian(172;0.0634) Epithelial(36;2.64e-22)|all cancers(36;2.69e-20)|OV - Ovarian serous cystadenocarcinoma(49;3.52e-19)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128) GBM - Glioblastoma multiforme(46;9.55e-05) AGTGAAGCTTCCTTTTCATTT 0.328000 51 59 1.22102e-19 1.32051e-19 0.139131 1 0 SFMBT2 57713 broad.mit.edu 37 10 7205753 7205753 + Missense_Mutation SNP G G C TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr10:7205753G>C ENST00000361972.4 - 21 2754 c.2664C>G c.(2662-2664)ttC>ttG p.F888L SFMBT2_ENST00000397167.1_Missense_Mutation_p.F888L NM_001018039.1 NP_001018049.1 Q5VUG0 SMBT2_HUMAN Scm-like with four mbt domains 2 888 regulation of transcription, DNA-dependent nucleus p.F888L(1) NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 99 ACTGGGCGTAGAAAGCCACTT 0.547000 23 70 0 0 0.076483 0 0 COQ5 84274 broad.mit.edu 37 12 120966898 120966898 + Missense_Mutation SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr12:120966898C>T ENST00000288532.6 - 1 87 c.47G>A c.(46-48)gGg>gAg p.G16E COQ5_ENST00000445328.2_Missense_Mutation_p.G16E NM_032314.3 NP_115690.3 Q5HYK3 COQ5_HUMAN coenzyme Q5 homolog, methyltransferase (S. cerevisiae) 16 ubiquinone biosynthetic process mitochondrion methyltransferase activity p.G16E(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3) 20 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CCGCGACCACCCACGGCCGCA 0.647000 27 25 0 0 0.116897 0 0 IFT122 55764 broad.mit.edu 37 3 129195257 129195257 + Missense_Mutation SNP C C G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr3:129195257C>G ENST00000296266.3 + 11 1261 c.1069C>G c.(1069-1071)Ctt>Gtt p.L357V IFT122_ENST00000507564.1_Missense_Mutation_p.L298V|IFT122_ENST00000440957.2_Missense_Mutation_p.L97V|IFT122_ENST00000504021.1_Missense_Mutation_p.L200V|IFT122_ENST00000347300.2_Missense_Mutation_p.L247V|IFT122_ENST00000348417.2_Missense_Mutation_p.L306V|IFT122_ENST00000431818.2_Missense_Mutation_p.L156V|IFT122_ENST00000349441.2_Missense_Mutation_p.L195V NM_052985.2 NP_443711.2 Q9HBG6 IF122_HUMAN intraflagellar transport 122 homolog (Chlamydomonas) 306 camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure microtubule basal body|photoreceptor connecting cilium p.L357V(1) breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 GCAAGTATCTCTTTTCACCAA 0.507000 72 71 0 0 0.139131 0 0 NCOR2 9612 broad.mit.edu 37 12 124957593 124957593 + Translation_Start_Site SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr12:124957593G>A ENST00000404121.2 - 0 651 NCOR2_ENST00000405201.1_Missense_Mutation_p.R166W|NCOR2_ENST00000397355.1_Missense_Mutation_p.R166W|NCOR2_ENST00000404621.1_Missense_Mutation_p.R166W|NCOR2_ENST00000356219.3_Missense_Mutation_p.R166W|NCOR2_ENST00000429285.2_Missense_Mutation_p.R166W NM_001206654.1 NP_001193583.1 Q9Y618 NCOR2_HUMAN nuclear receptor corepressor 2 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity p.R166W(2) breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) TTGGACAGCCGTGGCGGCACC 0.602000 26 88 0 0 0.091800 0 0 TNPO2 30000 broad.mit.edu 37 19 12826060 12826060 + Silent SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr19:12826060G>A ENST00000425528.1 - 8 1002 c.645C>T c.(643-645)atC>atT p.I215I TNPO2_ENST00000589956.1_Intron|TNPO2_ENST00000441499.1_Silent_p.I215I|TNPO2_ENST00000592287.1_Silent_p.I215I|TNPO2_ENST00000356861.5_Silent_p.I215I|TNPO2_ENST00000450764.2_Silent_p.I215I|TNPO2_ENST00000588216.1_Silent_p.I215I O14787 TNPO2_HUMAN transportin 2 215 intracellular protein transport cytoplasm|nucleus nuclear localization sequence binding|protein binding|protein transporter activity p.I215I(2) autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 GGCCCACCTCGATGAAGGTGT 0.642000 7 18 0 0 0.029380 0 0 CORO2A 7464 broad.mit.edu 37 9 100888882 100888882 + Silent SNP C C G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr9:100888882C>G ENST00000343933.5 - 11 1652 c.1395G>C c.(1393-1395)ctG>ctC p.L465L CORO2A_ENST00000375077.4_Silent_p.L465L NM_003389.3 NP_003380.3 Q92828 COR2A_HUMAN coronin, actin binding protein, 2A 465 actin cytoskeleton organization|intracellular signal transduction actin cytoskeleton|transcriptional repressor complex actin filament binding p.L465L(1) endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1) 26 Acute lymphoblastic leukemia(62;0.0559) AGCCATTTGTCAGCCAGGTTT 0.567000 64 152 0 0 0.139131 0 0 CUX2 23316 broad.mit.edu 37 12 111655742 111655742 + Splice_Site SNP G G T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr12:111655742G>T ENST00000261726.6 + 3 376 c.e3+1 CUX2_ENST00000551604.2_Splice_Site NM_015267.3 NP_056082.2 O14529 CUX2_HUMAN cut-like homeobox 2 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.?(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 55 CCAAGCCGAGGTAAGACCCAG 0.562000 53 66 8.81991e-31 9.68201e-31 0.139131 1 0 SSH3 54961 broad.mit.edu 37 11 67075644 67075644 + Splice_Site SNP G G T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr11:67075644G>T ENST00000308127.4 + 9 1063 c.e9-1 SSH3_ENST00000308298.7_Intron|SSH3_ENST00000532181.1_Splice_Site|SSH3_ENST00000376757.5_Splice_Site NM_017857.3 NP_060327.3 Q8TE77 SSH3_HUMAN slingshot protein phosphatase 3 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 p.?(1) 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) TCTGCCTGCAGATCCGCCAGG 0.647000 37 103 1.15505e-17 1.23544e-17 0.111260 1 0 STUB1 10273 broad.mit.edu 37 16 732373 732373 + Missense_Mutation SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr16:732373C>T ENST00000565677.1 + 7 1187 c.580C>T c.(580-582)Cat>Tat p.H194Y STUB1_ENST00000564370.1_Missense_Mutation_p.H194Y|JMJD8_ENST00000412368.2_3'UTR|JMJD8_ENST00000609261.1_3'UTR|STUB1_ENST00000219548.4_Missense_Mutation_p.H266Y|JMJD8_ENST00000454700.1_3'UTR|JMJD8_ENST00000293882.4_3'UTR Q9UNE7 CHIP_HUMAN STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase 266 cellular response to misfolded protein|DNA repair|misfolded or incompletely synthesized protein catabolic process|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K63-linked ubiquitination|protein maturation|regulation of glucocorticoid metabolic process|ubiquitin-dependent SMAD protein catabolic process cytoplasm|nuclear inclusion body|ubiquitin conjugating enzyme complex|ubiquitin ligase complex Hsp70 protein binding|Hsp90 protein binding|kinase binding|misfolded protein binding|protein binding, bridging|protein homodimerization activity|SMAD binding|TPR domain binding|ubiquitin-ubiquitin ligase activity p.H266Y(1) endometrium(2)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 6 Hepatocellular(780;0.00335) GCGTGTGGGTCATTTTGACCC 0.612000 64 73 0 0 0.139131 0 0 ST6GAL2 84620 broad.mit.edu 37 2 107460193 107460193 + Missense_Mutation SNP G G C TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr2:107460193G>C ENST00000409382.3 - 2 851 c.241C>G c.(241-243)Ccc>Gcc p.P81A ST6GAL2_ENST00000409087.3_Missense_Mutation_p.P81A|ST6GAL2_ENST00000361686.4_Missense_Mutation_p.P81A NM_001142351.1 NP_001135823.1 Q96JF0 SIAT2_HUMAN ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 81 growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity p.P81A(1) autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 65 TGGGCGCGGGGCAGCGCCTGG 0.657000 27 72 0 0 0.125774 0 0 DDI1 414301 broad.mit.edu 37 11 103908030 103908030 + Silent SNP C C G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr11:103908030C>G ENST00000302259.3 + 1 723 c.480C>G c.(478-480)ctC>ctG p.L160L PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron NM_001001711.2 NP_001001711.1 Q8WTU0 DDI1_HUMAN DNA-damage inducible 1 homolog 1 (S. cerevisiae) 160 proteolysis aspartic-type endopeptidase activity p.L160L(2) central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164) BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169) TGTCCCTGCTCAAGGAACGCA 0.622000 22 112 0 0 0.091800 0 0 WEE1 7465 broad.mit.edu 37 11 9608064 9608064 + Silent SNP T T C TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr11:9608064T>C ENST00000299613.6 + 9 1652 c.897T>C c.(895-897)gcT>gcC p.A299A WEE1_ENST00000450114.2_Silent_p.A513A NM_001143976.1 NP_001137448.1 P30291 WEE1_HUMAN WEE1 G2 checkpoint kinase 513 Protein kinase. blood coagulation|cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|S phase of mitotic cell cycle nucleoplasm ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein serine/threonine kinase activity p.A513A(1) breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 23 all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484) CTGCTGGTGCTGAACCTCTTC 0.398000 3 94 0 0 0.009096 0 0 PRKCG 5582 broad.mit.edu 37 19 54403944 54403944 + Missense_Mutation SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr19:54403944G>A ENST00000263431.3 + 14 1798 c.1516G>A c.(1516-1518)Gtc>Atc p.V506I PRKCG_ENST00000540413.1_Missense_Mutation_p.V506I|PRKCG_ENST00000542049.1_Missense_Mutation_p.V393I NM_002739.3 NP_002730.1 P05129 KPCG_HUMAN protein kinase C, gamma 506 Protein kinase. activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission cytosol ATP binding|protein kinase C activity|zinc ion binding p.V506I(1) large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1) 10 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0521) TAAGGAGAACGTCTTCCCCGG 0.587000 435 273 0 0 0.139131 0 0 FRY 10129 broad.mit.edu 37 13 32802752 32802752 + Missense_Mutation SNP A A T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr13:32802752A>T ENST00000380250.3 + 40 5862 c.5366A>T c.(5365-5367)gAt>gTt p.D1789V NM_023037.2 NP_075463.2 Q5TBA9 FRY_HUMAN furry homolog (Drosophila) 1789 regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane p.D1789V(1) NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 132 Lung SC(185;0.0271) all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104) GCTGAAACAGATGAGAAGGCA 0.512000 50 68 0 0 0.139131 0 0 GRIA2 2891 broad.mit.edu 37 4 158142864 158142864 + Missense_Mutation SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr4:158142864G>A ENST00000296526.7 + 2 459 c.134G>A c.(133-135)cGa>cAa p.R45Q GRIA2_ENST00000504801.1_Intron|GRIA2_ENST00000507898.1_5'UTR|GRIA2_ENST00000449365.1_5'UTR|GRIA2_ENST00000264426.9_Missense_Mutation_p.R45Q|GRIA2_ENST00000393815.2_5'UTR NM_000826.3 NP_000817 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 45 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity p.R45Q(2) NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) AGTGCATTTCGAGTAGGGATG 0.507000 36 130 0 0 0.080422 0 0 HTR2C 3358 broad.mit.edu 37 X 114141690 114141690 + Silent SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chrX:114141690C>T ENST00000276198.1 + 6 1817 c.1089C>T c.(1087-1089)atC>atT p.I363I HTR2C_ENST00000371950.3_3'UTR|HTR2C_ENST00000371951.1_Silent_p.I363I NM_000868.2 NP_000859.1 P28335 5HT2C_HUMAN 5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled 363 cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission cytoplasm|integral to membrane|nucleus|plasma membrane 1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity p.I363I(1) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246) GTTCAGGAATCAATCCTCTGG 0.398000 139 155 0 0 0.139131 0 0 CDK6 1021 broad.mit.edu 37 7 92462586 92462586 + Missense_Mutation SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr7:92462586C>T ENST00000265734.4 - 2 463 c.52G>A c.(52-54)Gag>Aag p.E18K CDK6_ENST00000424848.2_Missense_Mutation_p.E18K NM_001259.6 NP_001250.1 Q00534 CDK6_HUMAN cyclin-dependent kinase 6 18 Protein kinase. cell dedifferentiation|cell division|G1 phase of mitotic cell cycle|gliogenesis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|negative regulation of osteoblast differentiation|positive regulation of cell-matrix adhesion|positive regulation of fibroblast proliferation|regulation of erythrocyte differentiation|regulation of gene expression|response to virus cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleus|ruffle ATP binding|cyclin binding|cyclin-dependent protein kinase activity p.E18K(1) central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1) 11 all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237) STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23) TCCCCGATCTCCGCCACGCAT 0.716000 T MLLT10 ALL 16 13 0 0 0.033300 0 0 ALB 213 broad.mit.edu 37 4 74285275 74285275 + Silent SNP G G A rs11538206 TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr4:74285275G>A ENST00000295897.4 + 13 1793 c.1704G>A c.(1702-1704)ctG>ctA p.L568L ALB_ENST00000401494.3_Silent_p.L453L|ALB_ENST00000415165.2_Silent_p.L376L|ALB_ENST00000509063.1_Silent_p.L568L|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000503124.1_Silent_p.L418L NM_000477.5 NP_000468.1 P02768 ALBU_HUMAN albumin 568 Albumin 3. bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport extracellular space|platelet alpha granule lumen|protein complex antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding p.L568L(1) NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1) 48 Breast(15;0.00102) Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137) AAGAGCAACTGAAAGCTGTTA 0.413000 28 104 0 0 0.099896 0 0 SLC25A26 115286 broad.mit.edu 37 3 66293723 66293723 + Missense_Mutation SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr3:66293723C>T ENST00000354883.6 + 4 1015 c.287C>T c.(286-288)tCt>tTt p.S96F SLC25A26_ENST00000536651.1_3'UTR|SLC25A26_ENST00000413054.1_Missense_Mutation_p.S8F|SLC25A26_ENST00000336733.6_Missense_Mutation_p.S8F Q70HW3 SAMC_HUMAN solute carrier family 25 (S-adenosylmethionine carrier), member 26 96 integral to membrane|mitochondrial inner membrane|nucleus S-adenosylmethionine transmembrane transporter activity p.S96F(1) endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)|stomach(2)|urinary_tract(1) 8 Lung NSC(201;0.00774) BRCA - Breast invasive adenocarcinoma(55;0.00046)|KIRC - Kidney renal clear cell carcinoma(15;0.0515)|Kidney(15;0.0648) TTGGCTGCCTCTGCTGGAGAA 0.318000 37 104 0 0 0.098360 0 0 COL2A1 1280 broad.mit.edu 37 12 48381056 48381056 + Missense_Mutation SNP G G T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr12:48381056G>T ENST00000380518.3 - 20 1426 c.1262C>A c.(1261-1263)tCt>tAt p.S421Y COL2A1_ENST00000337299.6_Missense_Mutation_p.S352Y|COL2A1_ENST00000493991.1_5'UTR NM_001844.4|NM_033150.2 NP_001835.3|NP_149162.2 P02458 CO2A1_HUMAN collagen, type II, alpha 1 421 Triple-helical region. axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception collagen type II identical protein binding|platelet-derived growth factor binding p.S352Y(1)|p.S421Y(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3) 64 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) ACTCACAGCAGATCCTTTGGC 0.557000 14 49 1.99824e-07 2.07646e-07 0.033300 1 0 ANKRD36BP2 645784 broad.mit.edu 37 2 89100631 89100631 + RNA SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr2:89100631C>T ENST00000393525.3 + 0 1105 GGATGATGCTCGCAACAAAGC 0.393000 35 158 0 0 0.064281 0 0 IGSF10 285313 broad.mit.edu 37 3 151163672 151163672 + Missense_Mutation SNP G G C TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr3:151163672G>C ENST00000282466.3 - 4 4096 c.4097C>G c.(4096-4098)tCt>tGt p.S1366C NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 1366 cell differentiation|multicellular organismal development|ossification extracellular region p.S1366C(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) AGTGAAGCCAGAACTCTGGTC 0.478000 62 221 0 0 0.139131 0 0 ADRA1B 147 broad.mit.edu 37 5 159344642 159344642 + Missense_Mutation SNP G G C TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr5:159344642G>C ENST00000306675.3 + 1 853 c.730G>C c.(730-732)Gag>Cag p.E244Q NM_000679.3 NP_000670.1 P35368 ADA1B_HUMAN adrenoceptor alpha 1B 244 cell proliferation|cell-cell signaling|G-protein signaling, coupled to cAMP nucleotide second messenger|intracellular protein kinase cascade integral to plasma membrane alpha1-adrenergic receptor activity p.E244Q(1) endometrium(3)|large_intestine(6)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 Renal(175;0.00196) Medulloblastoma(196;0.0354)|all_neural(177;0.138) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656) AGTCATGAAGGAGATGTCCAA 0.527000 75 23 0 0 0.139131 0 0 ZFAND4 93550 broad.mit.edu 37 10 46121537 46121537 + Missense_Mutation SNP G G T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr10:46121537G>T ENST00000374366.3 - 8 1977 c.1512C>A c.(1510-1512)agC>agA p.S504R ZFAND4_ENST00000344646.5_Missense_Mutation_p.S578R|ZFAND4_ENST00000374371.2_Intron|ZFAND4_ENST00000374370.1_5'UTR NM_001282905.1|NM_001282906.1 NP_001269834.1|NP_001269835.1 Q86XD8 ANUB1_HUMAN zinc finger, AN1-type domain 4 578 zinc ion binding p.S578R(1) ATCTATTTCTGCTTGTGCTCC 0.468000 4 146 0.00909568 0.00931908 0.009096 1 0 DNAH10 196385 broad.mit.edu 37 12 124298176 124298176 + Missense_Mutation SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr12:124298176G>A ENST00000409039.3 + 19 3281 c.3256G>A c.(3256-3258)Gaa>Aaa p.E1086K NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 1086 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity p.E904K(1)|p.E1086K(1) breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) TAATCTCCATGAAGAGATGGA 0.423000 26 66 0 0 0.099896 0 0 MALT1 10892 broad.mit.edu 37 18 56390314 56390314 + Missense_Mutation SNP G G T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr18:56390314G>T ENST00000348428.3 + 10 1311 c.1053G>T c.(1051-1053)atG>atT p.M351I MALT1_ENST00000345724.3_Missense_Mutation_p.M340I|RP11-126O1.4_ENST00000588835.1_RNA NM_006785.2|NM_173844.1 NP_006776.1|NP_776216.1 Q9UDY8 MALT1_HUMAN mucosa associated lymphoid tissue lymphoma translocation gene 1 351 Caspase-like. activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway CBM complex|cytosol|nucleus|perinuclear region of cytoplasm cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity p.M351I(1) central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1) 12 TAGGAAATATGAATTACCGGG 0.398000 T BIRC3 MALT 19 63 3.62473e-10 3.82102e-10 0.062417 1 0 CASP8 841 broad.mit.edu 37 2 202141587 202141587 + Missense_Mutation SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr2:202141587G>A ENST00000358485.4 + 7 1071 c.875G>A c.(874-876)cGg>cAg p.R292Q CASP8_ENST00000323492.7_Missense_Mutation_p.R218Q|CASP8_ENST00000264274.9_Intron|CASP8_ENST00000432109.2_Missense_Mutation_p.R233Q|CASP8_ENST00000392259.2_Silent_p.S211S|CASP8_ENST00000392266.3_Silent_p.S196S|CASP8_ENST00000392258.3_Silent_p.S211S|CASP8_ENST00000264275.5_Missense_Mutation_p.R250Q NM_001080125.1 NP_001073594.1 Q14790 CASP8_HUMAN caspase 8, apoptosis-related cysteine peptidase 233 activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor centrosome|cytosol|mitochondrial outer membrane cysteine-type endopeptidase activity|protein binding p.R250Q(2)|p.R292Q(1) breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3) 52 AGCAAACCTCGGGGATACTGT 0.428000 HNSCC(4;0.00038) 26 21 0 0 0.134883 0 0 VSIG10 54621 broad.mit.edu 37 12 118517226 118517226 + Missense_Mutation SNP C C G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr12:118517226C>G ENST00000359236.5 - 4 1126 c.850G>C c.(850-852)Gat>Cat p.D284H NM_019086.5 NP_061959.2 Q8N0Z9 VSI10_HUMAN V-set and immunoglobulin domain containing 10 284 Ig-like C2-type 3. integral to membrane p.D284H(1) endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1) 17 TTCTTGCCATCCGACAGCTGG 0.537000 12 72 0 0 0.080935 0 0 EPDR1 54749 broad.mit.edu 37 7 37960368 37960368 + Missense_Mutation SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr7:37960368C>T ENST00000559325.1 + 1 206 c.187C>T c.(187-189)Cgc>Tgc p.R63C EPDR1_ENST00000476620.1_Intron|EPDR1_ENST00000199448.4_5'UTR|EPDR1_ENST00000423717.1_5'UTR Q9UM22 EPDR1_HUMAN ependymin related 1 0 cell-matrix adhesion extracellular region calcium ion binding p.R63C(1) breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 22 TACCGGGACTCGCGCGTCCGG 0.672000 29 13 0 0 0.080422 0 0 EVL 51466 broad.mit.edu 37 14 100595958 100595958 + Missense_Mutation SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr14:100595958G>A ENST00000544450.2 + 7 1071 c.788G>A c.(787-789)cGg>cAg p.R263Q EVL_ENST00000392920.3_Missense_Mutation_p.R259Q|EVL_ENST00000402714.2_Missense_Mutation_p.R257Q Q9UI08 EVL_HUMAN Enah/Vasp-like 257 EVH2. actin polymerization or depolymerization|axon guidance|cell surface receptor linked signaling pathway|organ morphogenesis cytoskeleton|cytosol|focal adhesion|lamellipodium actin binding|profilin binding|SH3 domain binding p.R259Q(1) cervix(1)|large_intestine(5)|lung(3)|ovary(3)|urinary_tract(2) 14 Melanoma(154;0.152) GATGCCAACCGGGCAAGCAGC 0.587000 45 22 0 0 0.131918 0 0 NOTCH1 4851 broad.mit.edu 37 9 139391498 139391498 + Silent SNP G G C TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr9:139391498G>C ENST00000277541.6 - 34 6768 c.6693C>G c.(6691-6693)ctC>ctG p.L2231L NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 2231 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 p.K2182fs*61(1)|p.L2232L(1)|p.S2163_T2283del(1)|p.L2231L(1) 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) GCAGGTGGTTGAGGGGCACGG 0.721000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 12 16 0 0 0.119110 0 0 KCNH7 90134 broad.mit.edu 37 2 163302755 163302755 + Missense_Mutation SNP C C G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr2:163302755C>G ENST00000332142.5 - 7 1426 c.1327G>C c.(1327-1329)Gaa>Caa p.E443Q KCNH7_ENST00000328032.4_Missense_Mutation_p.E436Q NM_033272.3 NP_150375.2 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 7 443 regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity p.E436Q(1)|p.E443Q(1) NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) TAGCCACATTCTCGTCTTTTC 0.378000 28 39 0 0 0.108266 0 0 B4GALNT1 2583 broad.mit.edu 37 12 58021630 58021630 + Silent SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr12:58021630C>T ENST00000341156.4 - 10 1739 c.1155G>A c.(1153-1155)gcG>gcA p.A385A B4GALNT1_ENST00000418555.2_Silent_p.A330A NM_001478.3 NP_001469.1 Q00973 B4GN1_HUMAN beta-1,4-N-acetyl-galactosaminyl transferase 1 385 lipid glycosylation integral to Golgi membrane|membrane fraction (N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity p.A385A(1) breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1) 20 Melanoma(17;0.122) BRCA - Breast invasive adenocarcinoma(9;0.109) TCTCGCGCACCGCGCCCCCCA 0.711000 3 6 0 0 0.009096 0 0 ZNF569 148266 broad.mit.edu 37 19 37917250 37917250 + Missense_Mutation SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr19:37917250C>T ENST00000316950.6 - 4 603 c.46G>A c.(46-48)Gac>Aac p.D16N ZNF569_ENST00000392150.2_Intron|ZNF569_ENST00000589833.1_Missense_Mutation_p.D40N|ZNF569_ENST00000392149.2_Missense_Mutation_p.D16N|ZNF569_ENST00000592490.1_Intron|ZNF569_ENST00000591073.1_5'UTR NM_152484.2 NP_689697.2 Q5MCW4 ZN569_HUMAN zinc finger protein 569 16 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.D16N(1) breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TGAGTGAAGTCGATAGCCACA 0.398000 59 110 0 0 0.139131 0 0 LECT1 11061 broad.mit.edu 37 13 53282807 53282807 + Missense_Mutation SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr13:53282807C>T ENST00000448904.2 - 6 763 c.653G>A c.(652-654)aGa>aAa p.R218K LECT1_ENST00000377962.3_Missense_Mutation_p.R218K NM_001011705.1|NM_007015.2 NP_001011705.1|NP_008946.1 O75829 LECT1_HUMAN leukocyte cell derived chemotaxin 1 218 cartilage development|proteoglycan metabolic process endomembrane system|extracellular region|integral to membrane p.R218K(1) NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1) 15 Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173) GBM - Glioblastoma multiforme(99;3.38e-08) AACAATTTTTCTTACCACTTC 0.393000 33 111 0 0 0.069456 0 0 PAQR8 85315 broad.mit.edu 37 6 52268632 52268632 + Silent SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr6:52268632C>T ENST00000442253.2 + 2 795 c.621C>T c.(619-621)gtC>gtT p.V207V PAQR8_ENST00000360726.3_Silent_p.V207V NM_133367.4 NP_588608.1 Q8TEZ7 MPRB_HUMAN progestin and adipoQ receptor family member VIII 207 cell differentiation|multicellular organismal development|oogenesis integral to membrane|plasma membrane receptor activity|steroid binding p.V207V(1) endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2) 17 Lung NSC(77;0.0875) CTTATCCAGTCATGAGGAAGA 0.547000 48 51 0 0 0.139131 0 0 HCN1 348980 broad.mit.edu 37 5 45262237 45262237 + Missense_Mutation SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr5:45262237G>A ENST00000303230.4 - 8 2516 c.2459C>T c.(2458-2460)aCg>aTg p.T820M NM_021072.3 NP_066550.2 O60741 HCN1_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 1 820 integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity p.T820M(2) NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5) 156 GGGGACCGCCGTCACGGGTTG 0.677000 36 37 0 0 0.074837 0 0 CLN6 54982 broad.mit.edu 37 15 68504196 68504196 + Silent SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr15:68504196G>A ENST00000249806.5 - 4 460 c.303C>T c.(301-303)atC>atT p.I101I CLN6_ENST00000564752.1_Silent_p.I101I|CLN6_ENST00000565471.1_Intron|CLN6_ENST00000538696.1_Silent_p.I133I|CLN6_ENST00000418702.2_Intron|RP11-315D16.2_ENST00000562767.1_Intron|CLN6_ENST00000566347.1_Intron NM_017882.2 NP_060352.1 Q9NWW5 CLN6_HUMAN ceroid-lipofuscinosis, neuronal 6, late infantile, variant 101 cell death|cholesterol metabolic process|ganglioside metabolic process|glycosaminoglycan metabolic process|lysosomal lumen acidification|positive regulation of proteolysis|protein catabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane protein homodimerization activity p.I101I(1) large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 7 GGGACCGCTCGATGAGCTGGG 0.612000 22 72 0 0 0.055883 0 0 PDLIM3 27295 broad.mit.edu 37 4 186425667 186425667 + Missense_Mutation SNP C C G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr4:186425667C>G ENST00000284770.5 - 7 940 c.867G>C c.(865-867)caG>caC p.Q289H PDLIM3_ENST00000284767.5_3'UTR|PDLIM3_ENST00000284771.6_Missense_Mutation_p.Q241H NM_014476.5 NP_055291.2 Q53GG5 PDLI3_HUMAN PDZ and LIM domain 3 289 sarcomere zinc ion binding p.Q289H(1)|p.Q241H(1) breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171) GCGGCATCCTCTGTGCCCCGC 0.507000 15 59 0 0 0.033300 0 0 BCLAF1 9774 broad.mit.edu 37 6 136599241 136599241 + Missense_Mutation SNP G G C TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr6:136599241G>C ENST00000531224.1 - 4 1030 c.778C>G c.(778-780)Cag>Gag p.Q260E BCLAF1_ENST00000530767.1_Missense_Mutation_p.Q260E|BCLAF1_ENST00000392348.2_Missense_Mutation_p.Q258E|BCLAF1_ENST00000527536.1_Missense_Mutation_p.Q260E|BCLAF1_ENST00000527759.1_Missense_Mutation_p.Q258E|BCLAF1_ENST00000353331.4_Missense_Mutation_p.Q258E NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 260 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding p.Q260E(1) haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) TGTGAATGCTGAGAAGGAGTA 0.443000 10 71 0 0 0.058154 0 0 DMD 1756 broad.mit.edu 37 X 31645811 31645811 + Missense_Mutation SNP T T G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chrX:31645811T>G ENST00000357033.4 - 55 8402 c.8196A>C c.(8194-8196)aaA>aaC p.K2732N DMD_ENST00000343523.2_Missense_Mutation_p.K272N|DMD_ENST00000378677.2_Missense_Mutation_p.K2728N|DMD_ENST00000359836.1_Missense_Mutation_p.K272N|DMD_ENST00000378707.3_Missense_Mutation_p.K272N|DMD_ENST00000541735.1_Missense_Mutation_p.K272N|DMD_ENST00000474231.1_Missense_Mutation_p.K272N NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 2732 muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding p.K2728N(1)|p.K2727N(1)|p.K2732N(1)|p.K272N(1)|p.K1391N(1) NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) TCATCAGCTCTTTTACTCCCT 0.433000 15 90 0 0 0.049695 0 0 GTPBP2 54676 broad.mit.edu 37 6 43593965 43593965 + Missense_Mutation SNP C C G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr6:43593965C>G ENST00000307126.5 - 3 395 c.396G>C c.(394-396)gaG>gaC p.E132D GTPBP2_ENST00000476510.1_5'UTR|GTPBP2_ENST00000307114.7_Missense_Mutation_p.E44D NM_019096.3 NP_061969.3 Q9BX10 GTPB2_HUMAN GTP binding protein 2 132 GTP binding|GTPase activity p.E132D(1) breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)|urinary_tract(1) 18 all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004) all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167) AAGCATACTTCTCTGCCATCC 0.592000 32 107 0 0 0.059317 0 0 TPK1 27010 broad.mit.edu 37 7 144245674 144245674 + Missense_Mutation SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr7:144245674C>T ENST00000549981.1 - 10 895 c.172G>A c.(172-174)Gac>Aac p.D58N TPK1_ENST00000378099.3_Missense_Mutation_p.D126N|TPK1_ENST00000547966.1_5'UTR|TPK1_ENST00000538212.2_Missense_Mutation_p.D121N|TPK1_ENST00000360057.3_Missense_Mutation_p.D175N Q9H3S4 TPK1_HUMAN thiamin pyrophosphokinase 1 175 thiamine diphosphate biosynthetic process cytosol ATP binding|kinase activity|thiamine diphosphokinase activity p.D175N(1) large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2) 19 Thiamine(DB00152) ATTCCAGTGTCTACATGCAAC 0.473000 33 148 0 0 0.050027 0 0 OTUD7A 161725 broad.mit.edu 37 15 31776455 31776455 + Missense_Mutation SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr15:31776455C>T ENST00000382902.1 - 11 1936 c.1844G>A c.(1843-1845)cGg>cAg p.R615Q OTUD7A_ENST00000307050.4_Missense_Mutation_p.R608Q Q8TE49 OTU7A_HUMAN OTU domain containing 7A 608 cytoplasm|nucleus cysteine-type peptidase activity|DNA binding|zinc ion binding p.R608Q(1) endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 30 all_lung(180;1.6e-09) all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208) GGCGTCGCCCCGCGGCCCACC 0.697000 8 14 0 0 0.047766 0 0 TPO 7173 broad.mit.edu 37 2 1520688 1520688 + Missense_Mutation SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr2:1520688C>T ENST00000345913.4 + 15 2643 c.2552C>T c.(2551-2553)tCc>tTc p.S851F TPO_ENST00000346956.3_Missense_Mutation_p.S807F|TPO_ENST00000382201.3_Missense_Mutation_p.S794F|TPO_ENST00000337415.3_Missense_Mutation_p.S851F|TPO_ENST00000349624.3_Missense_Mutation_p.S678F|TPO_ENST00000329066.4_Missense_Mutation_p.S851F|TPO_ENST00000497517.2_3'UTR|TPO_ENST00000382198.1_Missense_Mutation_p.S678F NM_000547.5 NP_000538.3 P07202 PERT_HUMAN thyroid peroxidase 851 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 p.S851F(1) 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) ACTTGGATCTCCATGTCGCTG 0.572000 35 73 0 0 0.074837 0 0 LETMD1 25875 broad.mit.edu 37 12 51451849 51451849 + Missense_Mutation SNP T T C TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr12:51451849T>C ENST00000418425.2 + 8 1008 c.989T>C c.(988-990)aTt>aCt p.I330T LETMD1_ENST00000552739.1_Missense_Mutation_p.I200T|LETMD1_ENST00000548516.1_3'UTR|LETMD1_ENST00000262055.4_Missense_Mutation_p.I317T|LETMD1_ENST00000547008.1_Missense_Mutation_p.I193T|LETMD1_ENST00000380123.2_3'UTR|LETMD1_ENST00000550929.1_Missense_Mutation_p.I261T NM_001243689.1 NP_001230618.1 Q6P1Q0 LTMD1_HUMAN LETM1 domain containing 1 317 LETM1. integral to membrane|mitochondrial outer membrane protein binding p.I317T(1) central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3) 16 TCTACGCATATTGGTGAAGAT 0.408000 19 68 0 0 0.049695 0 0 GLUD2 2747 broad.mit.edu 37 X 120183007 120183007 + Missense_Mutation SNP C C T rs141237083 TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chrX:120183007C>T ENST00000328078.1 + 1 1546 c.1469C>T c.(1468-1470)aCg>aTg p.T490M NM_012084.3 NP_036216.2 P49448 DHE4_HUMAN glutamate dehydrogenase 2 490 glutamate biosynthetic process|glutamate catabolic process mitochondrial matrix ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding p.T490M(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1) 38 L-Glutamic Acid(DB00142)|NADH(DB00157) ATTGTACCCACGGCAGAGTTC 0.438000 111 111 0 0 0.139131 0 0 DPP9 91039 broad.mit.edu 37 19 4690967 4690967 + Missense_Mutation SNP C C G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr19:4690967C>G ENST00000262960.9 - 14 1796 c.1519G>C c.(1519-1521)Gaa>Caa p.E507Q DPP9_ENST00000598800.1_Missense_Mutation_p.E478Q|DPP9_ENST00000594671.1_Missense_Mutation_p.E478Q NM_139159.4 NP_631898.3 Q86TI2 DPP9_HUMAN dipeptidyl-peptidase 9 478 proteolysis cytosol|membrane aminopeptidase activity|serine-type peptidase activity p.E586Q(1) cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884) CACTTAAATTCATCTGGAAAG 0.562000 4 13 0 0 0.009096 0 0 COG1 9382 broad.mit.edu 37 17 71197988 71197988 + Silent SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr17:71197988C>T ENST00000299886.4 + 7 2102 c.2022C>T c.(2020-2022)ctC>ctT p.L674L NM_018714.2 NP_061184.1 Q8WTW3 COG1_HUMAN component of oligomeric golgi complex 1 674 Golgi organization|intra-Golgi vesicle-mediated transport|protein transport Golgi membrane|Golgi transport complex protein binding p.L674L(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 LUSC - Lung squamous cell carcinoma(166;0.197) AAGAAGTACTCCTCCAGCAGA 0.463000 16 53 0 0 0.033300 0 0 UBR5 51366 broad.mit.edu 37 8 103335546 103335546 + Missense_Mutation SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr8:103335546C>T ENST00000520539.1 - 14 2383 c.1777G>A c.(1777-1779)Gaa>Aaa p.E593K UBR5_ENST00000521922.1_Missense_Mutation_p.E587K|UBR5_ENST00000220959.4_Missense_Mutation_p.E593K NM_001282873.1|NM_015902.5 NP_001269802.1|NP_056986.2 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 5 593 cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding p.E593K(1) NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 124 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) TACTTAGCTTCAGTAGTTTTG 0.368000 7 54 0 0 0.047766 0 0 SERPINA4 5267 broad.mit.edu 37 14 95033347 95033347 + Silent SNP C C G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr14:95033347C>G ENST00000557004.1 + 3 1111 c.690C>G c.(688-690)ccC>ccG p.P230P SERPINA4_ENST00000298841.5_Silent_p.P230P|SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000555095.1_Silent_p.P230P P29622 KAIN_HUMAN serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 230 regulation of proteolysis extracellular space serine-type endopeptidase inhibitor activity p.P230P(1) breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1) 46 COAD - Colon adenocarcinoma(157;0.211) GGACCACTCCCAAAGACTTCT 0.507000 19 121 0 0 0.038395 0 0 FNBP1 23048 broad.mit.edu 37 9 132658259 132658259 + Silent SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr9:132658259C>T ENST00000420781.1 - 16 1895 c.1677G>A c.(1675-1677)acG>acA p.T559T FNBP1_ENST00000355681.3_Silent_p.T539T|FNBP1_ENST00000443566.2_Silent_p.T196T|FNBP1_ENST00000446176.2_Silent_p.T568T Q96RU3 FNBP1_HUMAN formin binding protein 1 568 Interaction with ARHGAP17, DAAM1, DIAPH1 and DIAPH2.|Interaction with DNM1 and DNM3.|Interaction with DNM2 and WASL.|Interaction with FASLG.|Interaction with PDE6G (By similarity).|Required for interaction with TNKS.|Required for self-association and induction of membrane tubulation.|SH3. endocytosis cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane identical protein binding|lipid binding p.T568T(1) Ovarian(14;0.000536) GBM - Glioblastoma multiforme(294;0.0378) CTACGGAAATCGTTCCTTCAT 0.443000 T MLL AML 22 49 0 0 0.091800 0 0 PLCD4 84812 broad.mit.edu 37 2 219501002 219501002 + Missense_Mutation SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr2:219501002G>A ENST00000450993.2 + 15 2408 c.2069G>A c.(2068-2070)cGg>cAg p.R690Q PLCD4_ENST00000432688.1_Missense_Mutation_p.R722Q|PLCD4_ENST00000417849.1_Missense_Mutation_p.R690Q NM_032726.3 NP_116115.1 Q9BRC7 PLCD4_HUMAN phospholipase C, delta 4 690 C2. intracellular signal transduction|lipid catabolic process endoplasmic reticulum|membrane|nucleus calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity p.R690Q(1) breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3) 23 Renal(207;0.0915) Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) CTATGTTTCCGGGTGCTGGTG 0.448000 168 183 0 0 0.139131 0 0 CNOT3 4849 broad.mit.edu 37 19 54656169 54656169 + Silent SNP C C A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr19:54656169C>A ENST00000406403.1 + 14 3313 c.1710C>A c.(1708-1710)atC>atA p.I570I CNOT3_ENST00000496327.1_3'UTR|CNOT3_ENST00000221232.5_Silent_p.I570I|CNOT3_ENST00000358389.3_Silent_p.I389I O75175 CNOT3_HUMAN CCR4-NOT transcription complex, subunit 3 570 Pro-rich. nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|nucleus protein binding p.I570I(1)|p.I389I(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3) 28 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) CCACAGACATCATCCTGAGCA 0.667000 54 305 5.99346e-17 6.38719e-17 0.139131 1 0 MAGEC1 9947 broad.mit.edu 37 X 140995585 140995585 + Nonsense_Mutation SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chrX:140995585C>T ENST00000285879.4 + 4 2681 c.2395C>T c.(2395-2397)Cag>Tag p.Q799* MAGEC1_ENST00000406005.2_Intron NM_005462.4 NP_005453.2 O60732 MAGC1_HUMAN melanoma antigen family C, 1 799 protein binding p.Q799*(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1) 127 Acute lymphoblastic leukemia(192;6.56e-05) TGAGAGTCCTCAGAGTCCTCC 0.567000 HNSCC(15;0.026) 204 343 0 0 0.139131 0 0 PLCE1 51196 broad.mit.edu 37 10 96064271 96064271 + Missense_Mutation SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr10:96064271G>A ENST00000371380.3 + 24 5726 c.5491G>A c.(5491-5493)Gag>Aag p.E1831K PLCE1_ENST00000371385.3_Missense_Mutation_p.E1523K|PLCE1_ENST00000260766.3_Missense_Mutation_p.E1831K|PLCE1_ENST00000371375.1_Missense_Mutation_p.E1523K Q9P212 PLCE1_HUMAN phospholipase C, epsilon 1 PI-PLC Y-box. activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction cytosol|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity p.E1523K(1)|p.E1831K(1) liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1) 8 Colorectal(252;0.0458) TGCAATGTTTGAGGCAAATGG 0.378000 72 136 0 0 0.139131 0 0 SZT2 23334 broad.mit.edu 37 1 43895747 43895747 + Silent SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr1:43895747C>T ENST00000562955.1 + 29 4203 c.4203C>T c.(4201-4203)ttC>ttT p.F1401F SZT2_ENST00000372442.1_Silent_p.F559F NM_015284.3 NP_056099.3 Q5T011 SZT2_HUMAN seizure threshold 2 homolog (mouse) 1458 peroxisome p.F559F(2)|p.F1401F(1) NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3) 113 ACTACTTCTTCTATTGCCCTC 0.537000 145 52 0 0 0.139131 0 0 SEMA3C 10512 broad.mit.edu 37 7 80374329 80374329 + Missense_Mutation SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr7:80374329G>A ENST00000265361.3 - 18 2698 c.2137C>T c.(2137-2139)Cgg>Tgg p.R713W SEMA3C_ENST00000419255.2_Missense_Mutation_p.R713W|SEMA3C_ENST00000544525.1_Missense_Mutation_p.R731W NM_006379.3 NP_006370.1 Q99985 SEM3C_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C 713 immune response|response to drug membrane receptor activity p.R713G(1)|p.R713W(1) NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 TGTTGCTGCCGAGTGTCTTTG 0.483000 39 161 0 0 0.080422 0 0 DSG2 1829 broad.mit.edu 37 18 29101087 29101087 + Missense_Mutation SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr18:29101087G>A ENST00000261590.8 + 5 613 c.404G>A c.(403-405)aGa>aAa p.R135K DSG2_ENST00000585206.1_Missense_Mutation_p.R135K NM_001943.3 NP_001934.2 Q14126 DSG2_HUMAN desmoglein 2 135 Cadherin 1. cellular component disassembly involved in apoptosis|homophilic cell adhesion desmosome|integral to membrane calcium ion binding p.R135K(1) breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(10;0.0068) TTGGATGCAAGAGGAAACAAT 0.343000 23 67 0 0 0.076483 0 0 UBL4A 8266 broad.mit.edu 37 X 153713943 153713943 + Missense_Mutation SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chrX:153713943G>A ENST00000369660.4 - 4 494 c.409C>T c.(409-411)Cgg>Tgg p.R137W UBL4A_ENST00000477777.1_5'UTR|UBL4A_ENST00000369653.4_Splice_Site_p.R137C NM_014235.3 NP_055050.1 P11441 UBL4A_HUMAN ubiquitin-like 4A 137 protein modification process|tail-anchored membrane protein insertion into ER membrane|transport BAT3 complex small conjugating protein ligase activity p.R137W(1) endometrium(5)|lung(1)|urinary_tract(1) 7 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CTGGCCAACCGTTCGATGTCG 0.602000 45 223 0 0 0.139131 0 0 PTPRB 5787 broad.mit.edu 37 12 70932750 70932750 + Silent SNP G G C TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr12:70932750G>C ENST00000334414.6 - 27 5867 c.5823C>G c.(5821-5823)ctC>ctG p.L1941L PTPRB_ENST00000550358.1_Silent_p.L1853L|PTPRB_ENST00000538708.1_Silent_p.L1633L|PTPRB_ENST00000451516.2_Silent_p.L1633L|RP11-588H23.3_ENST00000548687.1_RNA|PTPRB_ENST00000261266.5_Silent_p.L1723L|PTPRB_ENST00000550857.1_Silent_p.L1633L NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 1723 Tyrosine-protein phosphatase. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity p.L1723L(2)|p.L1941L(1) breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) TCTCCGGCAAGAGTGCAATGT 0.368000 13 23 0 0 0.093190 0 0 SF3A1 10291 broad.mit.edu 37 22 30748978 30748978 + Silent SNP G G C TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr22:30748978G>C ENST00000215793.8 - 2 301 c.147C>G c.(145-147)gtC>gtG p.V49V SF3A1_ENST00000439242.1_Silent_p.V49V NM_005877.4 NP_005868.1 Q15459 SF3A1_HUMAN splicing factor 3a, subunit 1, 120kDa nuclear mRNA 3'-splice site recognition catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex protein binding|RNA binding p.V49V(1) endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1) 29 CAATATTTCTGACCTCTGGAG 0.478000 29 172 0 0 0.116897 0 0 RAP1B 5908 broad.mit.edu 37 12 69042512 69042512 + Missense_Mutation SNP A A G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr12:69042512A>G ENST00000250559.9 + 2 239 c.8A>G c.(7-9)gAg>gGg p.E3G RAP1B_ENST00000341355.5_Missense_Mutation_p.E3G|RAP1B_ENST00000540209.1_Missense_Mutation_p.E3G|RAP1B_ENST00000378985.3_Intron|RAP1B_ENST00000543697.1_Missense_Mutation_p.E3G|RAP1B_ENST00000537460.1_Missense_Mutation_p.E3G|RAP1B_ENST00000543393.1_Intron|RAP1B_ENST00000542145.1_Missense_Mutation_p.E3G|RAP1B_ENST00000539091.1_Missense_Mutation_p.E3G|RAP1B_ENST00000463493.1_Intron|RAP1B_ENST00000541216.1_Missense_Mutation_p.E3G|RAP1B_ENST00000450214.2_Missense_Mutation_p.E3G|RAP1B_ENST00000393436.5_Missense_Mutation_p.E3G NM_001010942.2|NM_001251921.1|NM_001251922.1|NM_015646.5 NP_001010942.1|NP_001238850.1|NP_001238851.1|NP_056461.1 P61224 RAP1B_HUMAN RAP1B, member of RAS oncogene family 3 blood coagulation|energy reserve metabolic process|regulation of establishment of cell polarity|regulation of insulin secretion cell-cell junction|cytosol GDP binding|GTP binding|GTPase activity|protein binding p.E3G(1) breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(2)|urinary_tract(2) 12 Breast(13;1.24e-05) Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694) GBM - Glioblastoma multiforme(7;0.000306) ATCATGCGTGAGTATAAGCTA 0.373000 520 27 0 0 0.139131 0 0 ZNF677 342926 broad.mit.edu 37 19 53741588 53741588 + Missense_Mutation SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr19:53741588C>T ENST00000333952.4 - 5 557 c.392G>A c.(391-393)aGa>aAa p.R131K ZNF677_ENST00000598513.1_Missense_Mutation_p.R131K Q86XU0 ZN677_HUMAN zinc finger protein 677 131 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R131K(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 GBM - Glioblastoma multiforme(134;0.00352) TTGATCTTTTCTGTGAGTGAG 0.358000 43 115 0 0 0.117977 0 0 RBP3 5949 broad.mit.edu 37 10 48382225 48382225 + Missense_Mutation SNP G G C TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr10:48382225G>C ENST00000224600.4 - 4 3537 c.3424C>G c.(3424-3426)Ctg>Gtg p.L1142V NM_002900.2 NP_002891.1 P10745 RET3_HUMAN retinol binding protein 3, interstitial 1142 4 X approximate tandem repeats. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity p.L1142V(1) central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Vitamin A(DB00162) CTGCTGGTCAGAATGACCATG 0.592000 19 32 0 0 0.043863 0 0 FURIN 5045 broad.mit.edu 37 15 91421501 91421501 + Silent SNP C C T rs146865309 TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr15:91421501C>T ENST00000268171.3 + 8 1086 c.807C>T c.(805-807)ctC>ctT p.L269L NM_002569.2 NP_002560.1 P09958 FURIN_HUMAN furin (paired basic amino acid cleaving enzyme) 269 cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity p.L269L(1) breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3) 36 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.189) CAGCCCGCCTCGCCGAGGAGG 0.642000 17 28 0 0 0.038395 0 0 TACC3 10460 broad.mit.edu 37 4 1733001 1733001 + Missense_Mutation SNP G G C TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr4:1733001G>C ENST00000313288.4 + 6 1670 c.1564G>C c.(1564-1566)Gag>Cag p.E522Q NM_006342.2 NP_006333.1 Q9Y6A5 TACC3_HUMAN transforming, acidic coiled-coil containing protein 3 522 centrosome p.E522Q(1) central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 Breast(71;0.212)|all_epithelial(65;0.241) OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126) GGAGCTGAAAGAGGAGAGCTT 0.627000 58 115 0 0 0.139131 0 0 RNF123 63891 broad.mit.edu 37 3 49757948 49757948 + Missense_Mutation SNP G G C TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr3:49757948G>C ENST00000327697.6 + 36 3649 c.3505G>C c.(3505-3507)Gag>Cag p.E1169Q RNF123_ENST00000433785.1_Missense_Mutation_p.E281Q|GMPPB_ENST00000308375.6_3'UTR|AMIGO3_ENST00000535833.1_5'UTR|GMPPB_ENST00000480687.1_3'UTR|RNF123_ENST00000497099.1_3'UTR NM_022064.3 NP_071347.2 Q5XPI4 RN123_HUMAN ring finger protein 123 1169 cytoplasm ligase activity|protein binding|zinc ion binding p.E1169Q(1) NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255) ACCTAGGAGAGAGCAAGCCAC 0.577000 14 56 0 0 0.119110 0 0 TFF2 7032 broad.mit.edu 37 21 43767668 43767668 + Silent SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr21:43767668G>A ENST00000291526.4 - 3 473 c.303C>T c.(301-303)tgC>tgT p.C101C TFF2_ENST00000475297.1_5'UTR NM_005423.4 NP_005414.1 Q03403 TFF2_HUMAN trefoil factor 2 101 P-type 2. digestion extracellular region p.C101C(1) large_intestine(1)|pancreas(1)|urinary_tract(1) 3 TCCGAGAGGCGCATTCCTCGG 0.577000 10 51 0 0 0.058154 0 0 KAL1 3730 broad.mit.edu 37 X 8507728 8507728 + Missense_Mutation SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chrX:8507728C>T ENST00000262648.3 - 10 1575 c.1426G>A c.(1426-1428)Gag>Aag p.E476K NM_000216.2 NP_000207.2 P23352 KALM_HUMAN Kallmann syndrome 1 sequence 476 Fibronectin type-III 3. axon guidance|cell adhesion|cellular component movement extracellular space|plasma membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity p.E476K(1) breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1) 32 GATGATGCCTCTGATCCGGTT 0.453000 48 259 0 0 0.139131 0 0 CNOT3 4849 broad.mit.edu 37 19 54656937 54656937 + Missense_Mutation SNP C C G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr19:54656937C>G ENST00000358389.3 + 17 2368 c.1514C>G c.(1513-1515)gCt>gGt p.A505G CNOT3_ENST00000406403.1_Intron|CNOT3_ENST00000496327.1_Intron|CNOT3_ENST00000221232.5_Intron O75175 CNOT3_HUMAN CCR4-NOT transcription complex, subunit 3 0 Pro-rich. nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|nucleus protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3) 28 all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19) GTTAGAACTGCTTGGGTTGAC 0.677000 9 40 0 0 0.080935 0 0 GPR98 84059 broad.mit.edu 37 5 89948215 89948215 + Missense_Mutation SNP T T C TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr5:89948215T>C ENST00000405460.2 + 19 3565 c.3469T>C c.(3469-3471)Ttt>Ctt p.F1157L NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 1157 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity p.F1157L(1) NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TTGGCAGCTCTTTCAGAATGA 0.373000 21 116 0 0 0.125774 0 0 CELSR1 9620 broad.mit.edu 37 22 46792543 46792543 + Silent SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr22:46792543G>A ENST00000262738.3 - 13 5801 c.5802C>T c.(5800-5802)tgC>tgT p.C1934C NM_014246.1 NP_055061.1 Q9NYQ6 CELR1_HUMAN cadherin, EGF LAG seven-pass G-type receptor 1 1934 EGF-like 6; calcium-binding. central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity p.C1934C(1) breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) GCCCACACTCGCACACGTAGC 0.622000 7 20 0 0 0.029380 0 0 ADAMTS1 9510 broad.mit.edu 37 21 28214229 28214229 + Silent SNP G G A rs141975781 TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr21:28214229G>A ENST00000284984.3 - 3 1612 c.1158C>T c.(1156-1158)tcC>tcT p.S386S NM_006988.3 NP_008919.3 Q9UHI8 ATS1_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 1 Peptidase M12B. integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis heparin binding|zinc ion binding p.S386S(1) central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 42 Breast(209;0.000962) Lung(58;0.215) CTTCTATGACGGAGCAGCTTC 0.438000 38 84 0 0 0.069456 0 0 DOT1L 84444 broad.mit.edu 37 19 2216303 2216303 + Silent SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr19:2216303G>A ENST00000398665.3 + 20 1983 c.1947G>A c.(1945-1947)aaG>aaA p.K649K DOT1L_ENST00000608122.1_3'UTR NM_032482.2 NP_115871.1 Q8TEK3 DOT1L_HUMAN DOT1-like histone H3K79 methyltransferase 649 nucleus DNA binding|histone-lysine N-methyltransferase activity|protein binding p.K649K(2) NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9) 42 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AGCTAGAGAAGAGCCAGCGGC 0.662000 32 69 0 0 0.064281 0 0 PRX 57716 broad.mit.edu 37 19 40901420 40901420 + Missense_Mutation SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr19:40901420C>T ENST00000324001.7 - 7 3109 c.2839G>A c.(2839-2841)Gag>Aag p.E947K PRX_ENST00000291825.7_3'UTR NM_181882.2 NP_870998.2 Q9BXM0 PRAX_HUMAN periaxin 947 axon ensheathment cytoplasm|nucleus|plasma membrane protein binding p.E947K(1) breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9) 47 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) CCCTCAGCCTCTGCCTTAGCC 0.577000 51 239 0 0 0.139131 0 0 MYO18B 84700 broad.mit.edu 37 22 26286747 26286747 + Missense_Mutation SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr22:26286747G>A ENST00000335473.7 + 26 4589 c.4339G>A c.(4339-4341)Gcc>Acc p.A1447T MYO18B_ENST00000536101.1_Missense_Mutation_p.A1447T|CTA-125H2.2_ENST00000453457.3_RNA|MYO18B_ENST00000407587.2_Missense_Mutation_p.A1448T|CTA-125H2.2_ENST00000600211.1_RNA NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 1447 Tail. nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity p.A1448T(1) NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 CTCTGACCTTGCCGATGAGCG 0.592000 65 24 0 0 0.139131 0 0 PIPSL 266971 broad.mit.edu 37 10 95720060 95720060 + RNA SNP G G C TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr10:95720060G>C ENST00000480546.1 - 0 1237 NR_002319.2 GGCTTTCCAAGAGTGCTCCAA 0.473000 30 65 0 0 0.144211 0 0 TJP1 7082 broad.mit.edu 37 15 30011184 30011184 + Silent SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr15:30011184G>A ENST00000346128.6 - 21 3636 c.3162C>T c.(3160-3162)ctC>ctT p.L1054L TJP1_ENST00000400011.2_Silent_p.L978L|TJP1_ENST00000356107.6_Silent_p.L1054L|TJP1_ENST00000545208.2_Silent_p.L974L NM_003257.3|NM_175610.2 NP_003248.3|NP_783297.2 Q07157 ZO1_HUMAN tight junction protein 1 1054 cell-cell junction assembly|cellular component disassembly involved in apoptosis basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction p.L1054L(1) breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1) 68 all_lung(180;7.48e-11)|Breast(32;0.000153) all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186) TGGGCTGCTCGAGGTCTCTGC 0.517000 124 422 0 0 0.139131 0 0 AGO1 26523 broad.mit.edu 37 1 36379798 36379798 + Missense_Mutation SNP C C G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr1:36379798C>G ENST00000373204.4 + 14 1969 c.1756C>G c.(1756-1758)Caa>Gaa p.Q586E AGO1_ENST00000373206.1_Missense_Mutation_p.Q511E NM_012199.2 NP_036331.1 argonaute RISC catalytic component 1 p.Q586E(1) TGCCGTTTTTCAACAGCCAGT 0.517000 122 33 0 0 0.139131 0 0 SNTG2 54221 broad.mit.edu 37 2 1241711 1241711 + Silent SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr2:1241711C>T ENST00000308624.5 + 10 900 c.771C>T c.(769-771)ctC>ctT p.L257L SNTG2_ENST00000407292.1_Silent_p.L130L NM_018968.3 NP_061841.2 Q9NY99 SNTG2_HUMAN syntrophin, gamma 2 257 central nervous system development cytoplasm|cytoskeleton|sarcolemma|syntrophin complex actin binding|PDZ domain binding p.L257L(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.00469) all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173) CTGGGATCCTCCGGTTTTACA 0.642000 6 8 0 0 0.029380 0 0 UNC13C 440279 broad.mit.edu 37 15 54919034 54919034 + Missense_Mutation SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr15:54919034G>A ENST00000545554.1 + 32 6368 c.6368G>A c.(6367-6369)gGa>gAa p.G2123E UNC13C_ENST00000260323.11_Missense_Mutation_p.G2123E|UNC13C_ENST00000539562.2_Missense_Mutation_p.G44E|UNC13C_ENST00000537900.1_Missense_Mutation_p.G2121E Q8NB66 UN13C_HUMAN unc-13 homolog C (C. elegans) 2123 C2 2. exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding p.G2123E(2) breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4) 121 GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124) AGCATTCTCGGAAAGGAAAAT 0.373000 6 17 0 0 0.038147 0 0 ZMIZ2 83637 broad.mit.edu 37 7 44796036 44796036 + Silent SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr7:44796036C>T ENST00000309315.4 + 3 186 c.63C>T c.(61-63)ttC>ttT p.F21F ZMIZ2_ENST00000441627.1_Silent_p.F21F|ZMIZ2_ENST00000265346.7_Silent_p.F21F|ZMIZ2_ENST00000413916.1_Silent_p.F21F|ZMIZ2_ENST00000433667.1_Silent_p.F21F NM_031449.3 NP_113637.3 Q8NF64 ZMIZ2_HUMAN zinc finger, MIZ-type containing 2 21 positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear replication fork ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding p.F21F(1) breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 ATGGTTCATTCGCATATGAGT 0.577000 80 46 0 0 0.139131 0 0 CA10 56934 broad.mit.edu 37 17 49713340 49713340 + Missense_Mutation SNP A A G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr17:49713340A>G ENST00000451037.2 - 7 1605 c.665T>C c.(664-666)aTa>aCa p.I222T CA10_ENST00000571918.1_5'UTR|CA10_ENST00000340813.6_Missense_Mutation_p.I228T|CA10_ENST00000285273.4_Missense_Mutation_p.I222T|CA10_ENST00000442502.2_Missense_Mutation_p.I222T|CA10_ENST00000570565.1_Missense_Mutation_p.I147T NM_020178.4 NP_064563.1 Q9NS85 CAH10_HUMAN carbonic anhydrase X 222 brain development p.I222T(1) cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(22;4.74e-06) TAGTTCCTCTATATTAAGCCC 0.383000 29 82 0 0 0.045705 0 0 C12orf60 144608 broad.mit.edu 37 12 14976569 14976569 + Missense_Mutation SNP A A G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr12:14976569A>G ENST00000330828.2 + 2 904 c.700A>G c.(700-702)Atg>Gtg p.M234V C12orf60_ENST00000527783.1_Intron NM_175874.3 NP_787070.2 Q5U649 CL060_HUMAN chromosome 12 open reading frame 60 234 p.M234V(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2) 9 GACTATGGAAATGAATATTTC 0.358000 24 36 0 0 0.091800 0 0 TLR2 7097 broad.mit.edu 37 4 154625550 154625550 + Silent SNP C C G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr4:154625550C>G ENST00000260010.6 + 1 2899 c.1491C>G c.(1489-1491)ctC>ctG p.L497L NM_003264.3 NP_003255.2 O60603 TLR2_HUMAN toll-like receptor 2 497 cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding p.L497L(1) breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 29 all_hematologic(180;0.093) Renal(120;0.117) ATGCCTCCCTCTTACCCATGT 0.358000 22 112 0 0 0.083992 0 0 SLC35A3 23443 broad.mit.edu 37 1 100459152 100459152 + Silent SNP C C G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr1:100459152C>G ENST00000465289.1 + 2 434 c.42C>G c.(40-42)gtC>gtG p.V14V SLC35A3_ENST00000370155.3_Silent_p.V14V|SLC35A3_ENST00000427993.2_Silent_p.V14V|SLC35A3_ENST00000370153.1_Silent_p.V56V NM_001271684.1 NP_001258613.1 Q9Y2D2 S35A3_HUMAN solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3 14 UDP-N-acetylglucosamine metabolic process Golgi membrane|integral to membrane sugar:hydrogen symporter activity|UDP-N-acetylglucosamine transmembrane transporter activity p.V14V(1) biliary_tract(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1) 11 all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155) Epithelial(280;0.124)|all cancers(265;0.198)|Lung(183;0.199) GAATTTTGGTCTTTCAGACTA 0.358000 4 123 0 0 0.009096 0 0 CCDC63 160762 broad.mit.edu 37 12 111291361 111291361 + Missense_Mutation SNP G G T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr12:111291361G>T ENST00000308208.5 + 3 404 c.162G>T c.(160-162)caG>caT p.Q54H CCDC63_ENST00000545036.1_Missense_Mutation_p.Q14H|CCDC63_ENST00000550317.1_Intron|CCDC63_ENST00000552694.1_Intron NM_152591.1 NP_689804.1 Q8NA47 CCD63_HUMAN coiled-coil domain containing 63 54 RQQFRKMVESRKSFKFRNQQKIASQY -> VGSAVAAAVGQ AARAATDKQSGPRHC (in Ref. 2; AAH64580). p.Q54H(1) NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1) 39 GAAACCAGCAGAAGATTGCGA 0.512000 12 39 7.03913e-09 7.36711e-09 0.093190 1 0 PDE6B 5158 broad.mit.edu 37 4 656971 656971 + Missense_Mutation SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr4:656971G>A ENST00000255622.6 + 15 1958 c.1915G>A c.(1915-1917)Gag>Aag p.E639K PDE6B_ENST00000496514.1_Missense_Mutation_p.E639K|PDE6B_ENST00000429163.2_Missense_Mutation_p.E360K NM_000283.3|NM_001145291.1 NP_000274.2|NP_001138763 P35913 PDE6B_HUMAN phosphodiesterase 6B, cGMP-specific, rod, beta 639 cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception cytosol|membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding p.E639K(1) NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1) 30 CCTGCTCTCGGAGGAGGTTGG 0.622000 35 74 0 0 0.074837 0 0 TTN 7273 broad.mit.edu 37 2 179482509 179482509 + Missense_Mutation SNP T T C TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr2:179482509T>C ENST00000589042.1 - 253 47793 c.47569A>G c.(47569-47571)Att>Gtt p.I15857V TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.I6792V|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I6917V|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I6984V|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.I14216V|TTN_ENST00000342992.6_Missense_Mutation_p.I13289V NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 14216 Fibronectin type-III 15. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.I13289V(2)|p.I6792V(1)|p.I6917V(1)|p.I6984V(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GGCTTACCAATTGGATCAGCA 0.378000 17 68 0 0 0.062417 0 0 PC 5091 broad.mit.edu 37 11 66619974 66619974 + Silent SNP G G C TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr11:66619974G>C ENST00000393960.1 - 15 2042 c.1761C>G c.(1759-1761)ctC>ctG p.L587L PC_ENST00000393955.2_Silent_p.L587L|PC_ENST00000393958.2_Silent_p.L587L NM_001040716.1 NP_001035806.1 P11498 PYC_HUMAN pyruvate carboxylase 587 Carboxyltransferase. gluconeogenesis|lipid biosynthetic process mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity p.L587L(1) cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Melanoma(852;0.0525) Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227) Biotin(DB00121)|Pyruvic acid(DB00119) CGATCTTTTTGAGATCGTGGG 0.612000 43 109 0 0 0.139131 0 0 OR5M10 390167 broad.mit.edu 37 11 56344512 56344512 + Missense_Mutation SNP C C A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr11:56344512C>A ENST00000526812.2 - 1 751 c.686G>T c.(685-687)cGt>cTt p.R229L NM_001004741.1 NP_001004741.1 Q6IEU7 OR5MA_HUMAN olfactory receptor, family 5, subfamily M, member 10 229 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R229L(1) central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2) 25 TTCAGCAGAACGGATCCTGAA 0.443000 61 49 3.07281e-33 3.38589e-33 0.139131 1 0 HELZ 9931 broad.mit.edu 37 17 65119237 65119237 + Missense_Mutation SNP C C G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr17:65119237C>G ENST00000358691.5 - 26 3645 c.3479G>C c.(3478-3480)aGa>aCa p.R1160T HELZ_ENST00000580168.1_Missense_Mutation_p.R1161T NM_014877.3 NP_055692 helicase with zinc finger p.R1160T(1) NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13) AGTATATGCTCTAATAGGATT 0.408000 18 45 0 0 0.038395 0 0 PCDH9 5101 broad.mit.edu 37 13 67801771 67801771 + Missense_Mutation SNP C C G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr13:67801771C>G ENST00000544246.1 - 2 1493 c.802G>C c.(802-804)Ggt>Cgt p.G268R PCDH9_ENST00000377861.3_Missense_Mutation_p.G268R|PCDH9_ENST00000377865.2_Missense_Mutation_p.G268R|PCDH9_ENST00000456367.1_Missense_Mutation_p.G268R|PCDH9_ENST00000328454.5_Missense_Mutation_p.G268R NM_203487.2 NP_982354.1 Q9HC56 PCDH9_HUMAN protocadherin 9 268 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.G268R(1) breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3) 103 Hepatocellular(98;0.0906)|Breast(118;0.107) GBM - Glioblastoma multiforme(99;0.00819) ACAGAGGTACCTACGGGAGCA 0.483000 60 55 0 0 0.139131 0 0 SAFB2 9667 broad.mit.edu 37 19 5591776 5591776 + Missense_Mutation SNP C C G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr19:5591776C>G ENST00000252542.4 - 17 2641 c.2377G>C c.(2377-2379)Gac>Cac p.D793H NM_014649.2 NP_055464.1 Q14151 SAFB2_HUMAN scaffold attachment factor B2 793 Gly-rich.|Interacts with SAFB1. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|nucleotide binding|protein binding|RNA binding p.D793H(1) endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 UCEC - Uterine corpus endometrioid carcinoma (162;0.000228) TCCCGGTGGTCTCCCATCATT 0.592000 11 46 0 0 0.105934 0 0 PRSS23 11098 broad.mit.edu 37 11 86518961 86518961 + Silent SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr11:86518961C>T ENST00000280258.5 + 2 701 c.276C>T c.(274-276)gcC>gcT p.A92A PRSS23_ENST00000533902.2_Intron|PRSS23_ENST00000441050.1_Silent_p.A60A NM_007173.4 NP_009104.1 O95084 PRS23_HUMAN protease, serine, 23 92 proteolysis extracellular region|nucleus serine-type endopeptidase activity p.A92A(1) central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 18 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) CGCTCTATGCCAATGGCAGCC 0.517000 17 34 0 0 0.045705 0 0 SOD3 6649 broad.mit.edu 37 4 24801248 24801248 + Silent SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr4:24801248C>T ENST00000382120.3 + 2 310 c.105C>T c.(103-105)atC>atT p.I35I NM_003102.2 NP_003093.2 P08294 SODE_HUMAN superoxide dismutase 3, extracellular 35 removal of superoxide radicals extracellular space|nucleus|soluble fraction copper ion binding|heparin binding|protein binding|superoxide dismutase activity|zinc ion binding p.I35I(1) prostate(1)|urinary_tract(1) 2 Breast(46;0.0503) CGGAGTGGATCCGAGACATGT 0.697000 3 9 0 0 0.115264 0 0 USP43 124739 broad.mit.edu 37 17 9559744 9559744 + Nonsense_Mutation SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr17:9559744C>T ENST00000285199.7 + 2 625 c.529C>T c.(529-531)Cag>Tag p.Q177* USP43_ENST00000570827.2_3'UTR|USP43_ENST00000570475.1_Nonsense_Mutation_p.Q177* NM_001267576.1|NM_153210.4 NP_001254505.1|NP_694942.3 Q70EL4 UBP43_HUMAN ubiquitin specific peptidase 43 ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity p.Q178*(1) breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 26 GTACGGCTCTCAGTTCCAAGG 0.522000 3 15 0 0 0.115264 0 0 MAN1A2 10905 broad.mit.edu 37 1 117944812 117944812 + Missense_Mutation SNP G G C TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr1:117944812G>C ENST00000356554.3 + 2 1042 c.307G>C c.(307-309)Gag>Cag p.E103Q MAN1A2_ENST00000482811.1_Intron NM_006699.3 NP_006690.1 O60476 MA1A2_HUMAN mannosidase, alpha, class 1A, member 2 103 N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane|membrane fraction calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity p.E103Q(1) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1) 27 Lung SC(450;0.225) all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05) Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243) TCACAGGGAAGAGGAAGAACG 0.363000 32 26 0 0 0.069456 0 0 AP3D1 8943 broad.mit.edu 37 19 2130435 2130435 + Silent SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr19:2130435C>T ENST00000355272.6 - 6 770 c.564G>A c.(562-564)ctG>ctA p.L188L AP3D1_ENST00000350812.6_Intron|AP3D1_ENST00000356926.4_Intron|AP3D1_ENST00000345016.5_Silent_p.L188L NM_001261826.1 NP_001248755.1 O14617 AP3D1_HUMAN adaptor-related protein complex 3, delta 1 subunit 188 eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport endosome membrane|Golgi membrane|membrane coat binding|protein transporter activity p.L188L(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GCTTCTCCTTCAGCCGGGGAA 0.602000 32 75 0 0 0.144211 0 0 WTAP 9589 broad.mit.edu 37 6 160174506 160174506 + Missense_Mutation SNP A A G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr6:160174506A>G ENST00000358372.4 + 7 2224 c.467A>G c.(466-468)aAg>aGg p.K156R SOD2_ENST00000546087.1_Intron NM_001270531.1|NM_004906.4 NP_001257460.1|NP_004897.2 Q15007 FL2D_HUMAN Wilms tumor 1 associated protein 156 cell cycle|mRNA processing|RNA splicing nuclear membrane|nucleolus p.K156R(1) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1) 18 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06) ACAGGGAAAAAGTTAATGGCG 0.423000 7 65 0 0 0.029380 0 0 DOCK4 9732 broad.mit.edu 37 7 111508111 111508111 + Missense_Mutation SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr7:111508111C>T ENST00000428084.1 - 22 2481 c.2209G>A c.(2209-2211)Gag>Aag p.E737K DOCK4_ENST00000437633.1_Missense_Mutation_p.E737K|DOCK4_ENST00000476846.1_5'UTR Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 737 cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding p.E737K(1)|p.E725K(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4) 72 Acute lymphoblastic leukemia(1;0.0441) ATGAGAAGCTCCTGAATGCAG 0.433000 9 42 0 0 0.058154 0 0 MYO1F 4542 broad.mit.edu 37 19 8587680 8587680 + Missense_Mutation SNP C C G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr19:8587680C>G ENST00000338257.8 - 26 3155 c.2888G>C c.(2887-2889)aGa>aCa p.R963T NM_012335.3 NP_036467.2 O00160 MYO1F_HUMAN myosin IF 963 VPPSARGGPL -> APLCPQGGAPC (in Ref. 5; CAA67058). unconventional myosin complex actin binding|ATP binding|calmodulin binding|motor activity p.R963T(1) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1) 42 GGGGCCCCCTCTGGCAGAGGG 0.652000 4 8 0 0 0.009096 0 0 ZNF641 121274 broad.mit.edu 37 12 48739131 48739131 + Missense_Mutation SNP G G C TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr12:48739131G>C ENST00000544117.2 - 4 1153 c.445C>G c.(445-447)Ctg>Gtg p.L149V ZNF641_ENST00000448928.3_Intron|ZNF641_ENST00000301042.3_Missense_Mutation_p.L149V|ZNF641_ENST00000547026.1_Missense_Mutation_p.L135V Q96N77 ZN641_HUMAN zinc finger protein 641 149 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|zinc ion binding p.L149V(1) breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 12 TGCTTACTCAGAGAGACTACT 0.502000 17 85 0 0 0.146539 0 0 ACD 65057 broad.mit.edu 37 16 67691914 67691914 + Missense_Mutation SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr16:67691914C>T ENST00000219251.8 - 10 1761 c.1430G>A c.(1429-1431)gGa>gAa p.G477E ACD_ENST00000393919.4_Missense_Mutation_p.G480E NM_001082486.1|NM_001082487.1|NM_022914.2 NP_001075955.1|NP_001075956.1|NP_075065.2 Q96AP0 ACD_HUMAN adrenocortical dysplasia homolog (mouse) 480 intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly nuclear telomere cap complex|nucleoplasm DNA binding|DNA polymerase binding p.G477E(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228) CTCCTGGGCTCCCCTGGTAGC 0.607000 25 85 0 0 0.108266 0 0 KCNG1 3755 broad.mit.edu 37 20 49626376 49626376 + Missense_Mutation SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr20:49626376C>T ENST00000371571.4 - 2 785 c.500G>A c.(499-501)cGc>cAc p.R167H RP5-955M13.4_ENST00000424566.1_RNA|KCNG1_ENST00000396017.3_Missense_Mutation_p.R167H NM_002237.3 NP_002228.2 Q9UIX4 KCNG1_HUMAN potassium voltage-gated channel, subfamily G, member 1 167 voltage-gated potassium channel complex voltage-gated potassium channel activity p.R167H(1) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 CAGGTAGCGGCGCTTGCAGCA 0.687000 28 150 0 0 0.134883 0 0 PDGFRA 5156 broad.mit.edu 37 4 55139810 55139810 + Missense_Mutation SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr4:55139810G>A ENST00000257290.5 + 10 1802 c.1471G>A c.(1471-1473)Gcc>Acc p.A491T FIP1L1_ENST00000507166.1_Intron NM_006206.4 NP_006197.1 P16234 PGFRA_HUMAN platelet-derived growth factor receptor, alpha polypeptide 491 Ig-like C2-type 5. 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 p.A491T(1) 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) TGTGACTTTCGCCAAAGTGGA 0.532000 """Mis, O, T""" FIP1L1 """GIST, idiopathic hypereosinophilic syndrome, paediatric GBM""" Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis TSP Lung(21;0.16) 26 131 0 0 0.091800 0 0 MUM1 84939 broad.mit.edu 37 19 1357029 1357029 + Missense_Mutation SNP T T G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr19:1357029T>G ENST00000344663.3 + 3 183 c.82T>G c.(82-84)Tca>Gca p.S28A MUM1_ENST00000311401.5_5'UTR|MUM1_ENST00000415183.3_Missense_Mutation_p.S28A|MUM1_ENST00000591806.1_Missense_Mutation_p.S28A Q2TAK8 MUM1_HUMAN melanoma associated antigen (mutated) 1 27 chromatin organization|DNA repair nucleus nucleosome binding|protein binding p.S28A(1) breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AACCGCGACTTCAACAAAAAA 0.358000 21 44 0 0 0.062417 0 0 DDX31 64794 broad.mit.edu 37 9 135545428 135545428 + Missense_Mutation SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr9:135545428G>A ENST00000372159.3 - 1 360 c.209C>T c.(208-210)cCc>cTc p.P70L DDX31_ENST00000480876.1_5'UTR|GTF3C4_ENST00000483873.2_5'UTR|DDX31_ENST00000372153.1_Missense_Mutation_p.P70L|GTF3C4_ENST00000372146.4_5'UTR|DDX31_ENST00000310532.2_Missense_Mutation_p.P70L NM_022779.7 NP_073616.6 Q9H8H2 DDX31_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 31 70 nucleolus ATP binding|ATP-dependent helicase activity|RNA binding p.P70L(1) breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1) 27 OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05) GCCCCTTCCGGGTCCGGAACG 0.761000 2 1 0 0 0.115264 0 0 CRB1 23418 broad.mit.edu 37 1 197390534 197390534 + Nonsense_Mutation SNP C C T rs114342808 by1000genomes TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr1:197390534C>T ENST00000367400.3 + 6 1711 c.1576C>T c.(1576-1578)Cga>Tga p.R526* CRB1_ENST00000543483.1_Nonsense_Mutation_p.R225*|CRB1_ENST00000538660.1_Nonsense_Mutation_p.R526*|CRB1_ENST00000367399.2_Nonsense_Mutation_p.R414*|CRB1_ENST00000544212.1_Nonsense_Mutation_p.R7*|CRB1_ENST00000535699.1_Nonsense_Mutation_p.R457*|CRB1_ENST00000367397.1_5'UTR|CRB1_ENST00000476483.1_3'UTR NM_201253.2 NP_957705.1 P82279 CRUM1_HUMAN crumbs homolog 1 (Drosophila) 526 Laminin G-like 1. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding p.R526*(2) NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 132 TCTACTTTTCCGAAGCAACAG 0.453000 55 52 0 0 0.139131 0 0 LRBA 987 broad.mit.edu 37 4 151771938 151771938 + Missense_Mutation SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr4:151771938C>T ENST00000535741.1 - 24 4415 c.3942G>A c.(3940-3942)atG>atA p.M1314I LRBA_ENST00000507224.1_Missense_Mutation_p.M1314I|LRBA_ENST00000357115.3_Missense_Mutation_p.M1314I|LRBA_ENST00000510413.1_Missense_Mutation_p.M1314I P50851 LRBA_HUMAN LPS-responsive vesicle trafficking, beach and anchor containing 1314 endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane protein binding p.M1314I(1) breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 91 all_hematologic(180;0.151) AACGTTGATGCATCTGAGACC 0.393000 17 90 0 0 0.146539 0 0 TASP1 55617 broad.mit.edu 37 20 13463978 13463978 + Missense_Mutation SNP C C G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr20:13463978C>G ENST00000337743.4 - 11 1001 c.881G>C c.(880-882)gGa>gCa p.G294A TASP1_ENST00000480436.1_5'UTR|TASP1_ENST00000539805.1_Missense_Mutation_p.E97Q NM_017714.2 NP_060184.2 Q9H6P5 TASP1_HUMAN taspase, threonine aspartase, 1 294 asparagine catabolic process via L-aspartate|positive regulation of transcription, DNA-dependent|protein maturation threonine-type endopeptidase activity p.G294A(1) NS(1)|breast(1)|endometrium(2)|large_intestine(11)|liver(1)|lung(11)|stomach(2)|urinary_tract(2) 31 AAGATGCTCTCCACATCCTAG 0.433000 59 154 0 0 0.139131 0 0 PDE3A 5139 broad.mit.edu 37 12 20523043 20523043 + Silent SNP G G A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr12:20523043G>A ENST00000359062.3 + 1 865 c.825G>A c.(823-825)ctG>ctA p.L275L RP11-284H19.1_ENST00000535755.1_RNA NM_000921.4|NM_001244683.1 NP_000912.3|NP_001231612.1 Q14432 PDE3A_HUMAN phosphodiesterase 3A, cGMP-inhibited 275 lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding p.L275L(1) NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 58 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) GGTCCCAGCTGATTGCTGGGA 0.627000 44 39 0 0 0.124865 0 0 LETM1 3954 broad.mit.edu 37 4 1843344 1843344 + Nonsense_Mutation SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr4:1843344C>T ENST00000302787.2 - 3 620 c.324G>A c.(322-324)tgG>tgA p.W108* NM_012318.2 NP_036450.1 O95202 LETM1_HUMAN leucine zipper-EF-hand containing transmembrane protein 1 108 cristae formation integral to membrane|mitochondrial inner membrane calcium ion binding|protein binding p.W108*(1) breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1) 13 all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141) GCGAAGAGTGCCAGCCACGCA 0.587000 4 122 0 0 0.009096 0 0 NAA25 80018 broad.mit.edu 37 12 112477050 112477050 + Missense_Mutation SNP C C G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr12:112477050C>G ENST00000261745.4 - 22 2880 c.2632G>C c.(2632-2634)Gaa>Caa p.E878Q NM_024953.3 NP_079229.2 Q14CX7 NAA25_HUMAN N(alpha)-acetyltransferase 25, NatB auxiliary subunit 878 cytoplasm protein binding p.E878Q(1) autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 46 ATGCTGGTTTCTTTTTTCTTC 0.348000 17 38 0 0 0.146539 0 0 VLDLR 7436 broad.mit.edu 37 9 2652927 2652927 + Missense_Mutation SNP C C G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr9:2652927C>G ENST00000382100.3 + 18 2920 c.2564C>G c.(2563-2565)tCt>tGt p.S855C VLDLR_ENST00000382099.2_Missense_Mutation_p.S827C NM_003383.3 NP_003374.3 P98155 VLDLR_HUMAN very low density lipoprotein receptor cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity p.S855C(1) breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 24 GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123) CACAGTGCTTCTGTTGGACAC 0.448000 72 81 0 0 0.139131 0 0 ALDH16A1 126133 broad.mit.edu 37 19 49971800 49971800 + Silent SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr19:49971800C>T ENST00000293350.4 + 15 2264 c.2101C>T c.(2101-2103)Ctg>Ttg p.L701L CTD-3148I10.9_ENST00000599536.1_Intron|ALDH16A1_ENST00000433981.2_Silent_p.L536L|ALDH16A1_ENST00000455361.2_Silent_p.L650L|ALDH16A1_ENST00000540132.1_Silent_p.L538L NM_153329.3 NP_699160.2 Q8IZ83 A16A1_HUMAN aldehyde dehydrogenase 16 family, member A1 701 oxidoreductase activity|protein binding p.L701L(1) cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3) 20 all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15) OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251) GGCCTGTCCTCTGCTGGCCCT 0.667000 14 274 0 0 0.119110 0 0 NUP107 57122 broad.mit.edu 37 12 69109478 69109478 + Silent SNP C C G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr12:69109478C>G ENST00000229179.4 + 12 1373 c.1041C>G c.(1039-1041)ctC>ctG p.L347L NUP107_ENST00000378905.2_Silent_p.L196L|NUP107_ENST00000539906.1_Silent_p.L318L NM_020401.2 NP_065134.1 P57740 NU107_HUMAN nucleoporin 107kDa 347 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|Nup107-160 complex nucleocytoplasmic transporter activity|protein binding p.L347L(1) NUP107/LGR5(2) breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2) 39 Breast(13;6.25e-06) Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694) TTAGATTACTCAAATATCTCT 0.378000 30 1695 0 0 0.033300 0 0 ZFC3H1 196441 broad.mit.edu 37 12 72057372 72057372 + Missense_Mutation SNP G G C TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr12:72057372G>C ENST00000378743.3 - 1 377 c.19C>G c.(19-21)Ccg>Gcg p.P7A THAP2_ENST00000308086.2_5'UTR|ZFC3H1_ENST00000552037.1_Missense_Mutation_p.P7A|ZFC3H1_ENST00000548100.1_Missense_Mutation_p.P7A NM_144982.4 NP_659419.3 O60293 ZC3H1_HUMAN zinc finger, C3H1-type containing 7 RNA processing intracellular metal ion binding p.P7A(1) NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 GCCGGGGCCGGAGTATCTGCG 0.602000 OREG0021993 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 98 96 0 0 0.139131 0 0 NMD3 51068 broad.mit.edu 37 3 160942825 160942825 + Nonsense_Mutation SNP C C A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr3:160942825C>A ENST00000460469.1 + 2 607 c.152C>A c.(151-153)tCg>tAg p.S51* NMD3_ENST00000478160.1_Intron|NMD3_ENST00000472947.1_Nonsense_Mutation_p.S51*|NMD3_ENST00000351193.2_Nonsense_Mutation_p.S51* Q96D46 NMD3_HUMAN NMD3 ribosome export adaptor 51 protein transport cytoplasm|nucleolus|nucleoplasm p.S51*(1) cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2) 25 Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156) AAACAAGTCTCGATTTCGTTC 0.413000 55 128 7.50695e-29 8.20985e-29 0.139131 1 0 PGAP2 27315 broad.mit.edu 37 11 3845209 3845209 + Missense_Mutation SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr11:3845209C>T ENST00000278243.4 + 4 646 c.445C>T c.(445-447)Cgc>Tgc p.R149C PGAP2_ENST00000479072.1_5'UTR|PGAP2_ENST00000396991.2_Missense_Mutation_p.R149C|PGAP2_ENST00000465307.2_Missense_Mutation_p.S91L|PGAP2_ENST00000463452.2_Missense_Mutation_p.R88C|PGAP2_ENST00000493547.2_Missense_Mutation_p.R88C|PGAP2_ENST00000532017.1_3'UTR|PGAP2_ENST00000396993.4_Missense_Mutation_p.S41L|PGAP2_ENST00000496834.2_5'UTR|PGAP2_ENST00000396986.2_Missense_Mutation_p.R145C|PGAP2_ENST00000300730.6_Missense_Mutation_p.R145C NM_014489.3 NP_055304.1 Q9UHJ9 PGAP2_HUMAN post-GPI attachment to proteins 2 149 GPI anchor biosynthetic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane protein transporter activity p.R149C(1)|p.R145C(1) NS(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1) 11 CTCGGCGCCTCGCTTCTTGGT 0.642000 22 63 0 0 0.069288 0 0 COL2A1 1280 broad.mit.edu 37 12 48390378 48390378 + Missense_Mutation SNP C C G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr12:48390378C>G ENST00000380518.3 - 8 726 c.562G>C c.(562-564)Gat>Cat p.D188H COL2A1_ENST00000337299.6_Missense_Mutation_p.D119H NM_001844.4|NM_033150.2 NP_001835.3|NP_149162.2 P02458 CO2A1_HUMAN collagen, type II, alpha 1 188 axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception collagen type II identical protein binding|platelet-derived growth factor binding p.D119H(1)|p.D188H(1) NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3) 64 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) GCCTTTTCATCAAATCCTCCA 0.498000 118 413 0 0 0.139131 0 0 RNF121 55298 broad.mit.edu 37 11 71698134 71698134 + Silent SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr11:71698134C>T ENST00000361756.3 + 5 844 c.483C>T c.(481-483)ctC>ctT p.L161L RNF121_ENST00000490867.1_3'UTR|RNF121_ENST00000533380.1_Intron|RNF121_ENST00000393713.3_Silent_p.L129L|RNF121_ENST00000545854.1_Silent_p.L80L|RNF121_ENST00000530137.1_Silent_p.L129L NM_018320.4 NP_060790.2 Q9H920 RN121_HUMAN ring finger protein 121 161 integral to membrane zinc ion binding p.L161L(1) endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|urinary_tract(1) 13 TGTTTACCCTCTTTGGTCTTA 0.423000 56 94 0 0 0.139131 0 0 MYH1 4619 broad.mit.edu 37 17 10400658 10400658 + Missense_Mutation SNP C C G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr17:10400658C>G ENST00000226207.5 - 32 4571 c.4477G>C c.(4477-4479)Gag>Cag p.E1493Q RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA NM_005963.3 NP_005954.3 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 1493 muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity p.E1493Q(1) NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5) 176 AAAGATTCCTCATAAGCATTC 0.343000 19 64 0 0 0.062417 0 0 ENTPD2 954 broad.mit.edu 37 9 139945421 139945421 + Missense_Mutation SNP T T C TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr9:139945421T>C ENST00000355097.2 - 5 754 c.707A>G c.(706-708)tAc>tGc p.Y236C ENTPD2_ENST00000312665.5_Missense_Mutation_p.Y236C NM_001246.3|NM_203468.2 NP_001237.1|NP_982293.1 Q9Y5L3 ENTP2_HUMAN ectonucleoside triphosphate diphosphohydrolase 2 236 integral to membrane ATP binding p.Y236C(1) endometrium(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(3) 12 all_cancers(76;0.0926) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) GCTGTGGGTGTAGACTCGGTA 0.632000 6 23 0 0 0.105934 0 0 GDF11 10220 broad.mit.edu 37 12 56142751 56142751 + Missense_Mutation SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr12:56142751C>T ENST00000257868.5 + 2 864 c.827C>T c.(826-828)cCg>cTg p.P276L NM_005811.3 NP_005802.1 O95390 GDF11_HUMAN growth differentiation factor 11 276 growth|mesoderm development|skeletal system development extracellular space cytokine activity|growth factor activity p.P276L(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|urinary_tract(1) 12 TCCCTGGGGCCGGGAGCCGAG 0.597000 5 23 0 0 0.021553 0 0 ABCA8 10351 broad.mit.edu 37 17 66933153 66933153 + Silent SNP A A G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr17:66933153A>G ENST00000269080.2 - 4 542 c.405T>C c.(403-405)taT>taC p.Y135Y ABCA8_ENST00000430352.2_Silent_p.Y135Y|ABCA8_ENST00000586539.1_Silent_p.Y135Y NM_007168.2 NP_009099.1 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A (ABC1), member 8 135 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances p.Y135Y(1) breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4) 83 Breast(10;4.56e-13) ACTTCAAATGATATGAGTATG 0.368000 25 55 0 0 0.091800 0 0 INTS9 55756 broad.mit.edu 37 8 28633422 28633422 + Missense_Mutation SNP C C T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr8:28633422C>T ENST00000416984.2 - 13 1713 c.1354G>A c.(1354-1356)Gag>Aag p.E452K INTS9_ENST00000521777.1_Missense_Mutation_p.E449K|INTS9_ENST00000521022.1_Missense_Mutation_p.E473K|INTS9_ENST00000397363.4_Missense_Mutation_p.E367K NM_001145159.2 NP_001138631.1 Q9NV88 INT9_HUMAN integrator complex subunit 9 473 snRNA processing integrator complex protein binding p.E473K(1) breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2) 19 Ovarian(32;0.0439) KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152) GTGTACTGCTCAGGACACACC 0.622000 24 56 0 0 0.091800 0 0 NIN 51199 broad.mit.edu 37 14 51225101 51225101 + Missense_Mutation SNP C C G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr14:51225101C>G ENST00000245441.5 - 18 2837 c.2647G>C c.(2647-2649)Gag>Cag p.E883Q NIN_ENST00000382043.4_Intron|NIN_ENST00000453196.1_Missense_Mutation_p.E883Q|NIN_ENST00000530997.2_Missense_Mutation_p.E883Q|NIN_ENST00000382041.3_Missense_Mutation_p.E883Q|NIN_ENST00000324330.9_Missense_Mutation_p.E883Q|NIN_ENST00000389868.3_Intron NM_020921.3 NP_065972 Q8N4C6 NIN_HUMAN ninein (GSK3B interacting protein) 883 centrosome localization centrosome|microtubule calcium ion binding|GTP binding|protein binding p.E883Q(2)|p.E889Q(1) 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) GTTGTTTTCTCTCTCTTAAGA 0.502000 T PDGFRB MPD 94 36 0 0 0.139131 0 0 FPGT 8790 broad.mit.edu 37 1 74671227 74671227 + Nonsense_Mutation SNP C C A TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr1:74671227C>A ENST00000609362.1 + 4 1533 c.1496C>A c.(1495-1497)tCa>tAa p.S499* FPGT-TNNI3K_ENST00000370899.3_Intron|FPGT_ENST00000370894.5_3'UTR|FPGT_ENST00000534056.1_Nonsense_Mutation_p.S245*|FPGT-TNNI3K_ENST00000533006.1_Intron|FPGT-TNNI3K_ENST00000557284.2_Intron|TNNI3K_ENST00000370891.2_Intron|FPGT-TNNI3K_ENST00000370895.1_Intron|FPGT_ENST00000524915.1_Intron|FPGT_ENST00000370898.3_Nonsense_Mutation_p.S512*|FPGT-TNNI3K_ENST00000370893.1_Intron NM_003838.4 NP_003829.3 fucose-1-phosphate guanylyltransferase p.S499*(1) breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1) 39 TGTTTCCTGTCATGCTTAGAT 0.378000 49 57 5.2432e-18 5.62873e-18 0.139131 1 0 RP11-435B5.5 0 broad.mit.edu 37 1 143391935 143391936 + RNA INS - - TG TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr1:143391935_143391936insTG ENST00000428624.1 + 0 2065 RP11-435B5.4_ENST00000423249.1_lincRNA ATATATATATATAAAGAGATTG 0.252 4 4 --- --- --- --- OR2T2 401992 broad.mit.edu 37 1 248616705 248616711 + Frame_Shift_Del DEL TGCTGCG TGCTGCG - TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr1:248616705_248616711delTGCTGCG ENST00000342927.3 + 1 629_635 c.607_613delTGCTGCG c.(607-615)tgctgcgtgfs p.CCV203fs NM_001004136.1 NP_001004136.1 Q6IF00 OR2T2_HUMAN olfactory receptor, family 2, subfamily T, member 2 203 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 37 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GATGTATGCCTGCTGCGTGCTGATGCT 0.527 7 108 --- --- --- --- AC027612.3 0 broad.mit.edu 37 2 91887905 91887906 + RNA INS - - T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr2:91887905_91887906insT ENST00000436174.1 - 0 540 GCTATTTTCCATTTTTTTTTTT 0.292 8 58 --- --- --- --- CRYBA2 1412 broad.mit.edu 37 2 219857870 219857884 + In_Frame_Del DEL GCCGGGCCCGGCGCG GCCGGGCCCGGCGCG - rs141631259 by1000genomes TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr2:219857870_219857884delGCCGGGCCCGGCGCG ENST00000295728.2 - 1 251_265 c.15_29delCGCGCCGGGCCCGGC c.(13-30)cccgcgccgggcccggcg>ccg p.APGPA6del CRYBA2_ENST00000392096.2_In_Frame_Del_p.APGPA6del NM_057093.1 NP_476434.1 P53672 CRBA2_HUMAN crystallin, beta A2 6 N-terminal arm. structural constituent of eye lens endometrium(1)|lung(3)|prostate(1) 5 Renal(207;0.0474) Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GCTggcgggcgccgggcccggcgcgggggcgcTGC 0.716 6 11 --- --- --- --- AGFG2 3268 broad.mit.edu 37 7 100148019 100148022 + Splice_Site DEL GTTT GTTT - TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr7:100148019_100148022delGTTT ENST00000300176.4 + 3 438_441 c.316_319delGTTT c.(316-321)gtttgc>gc p.VC106fs AGFG2_ENST00000262935.4_Splice_Site_p.VC106fs NM_006076.4 NP_006067.3 O95081 AGFG2_HUMAN ArfGAP with FG repeats 2 106 Arf-GAP. regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 ATTCTTTTAGGTTTGCCGGAAGAT 0.387 163 137 --- --- --- --- FLNC 2318 broad.mit.edu 37 7 128492642 128492651 + Splice_Site DEL CAGGTGATGA CAGGTGATGA - TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr7:128492642_128492651delCAGGTGATGA ENST00000325888.8 + 36 6103_6110 c.5842_5849delCAGGTGATGA c.(5842-5850)caggtgatg>g p.QVM1948fs RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Splice_Site_p.QVM1915fs NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 1948 cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 ACTCCCCCACCAGGTGATGACTCCATGAGG 0.624 15 191 --- --- --- --- KLF5 688 broad.mit.edu 37 13 73636411 73636412 + Frame_Shift_Ins INS - - G TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr13:73636411_73636412insG ENST00000377687.4 + 2 1210_1211 c.674_675insG c.(673-678)cagggcfs p.QG225fs KLF5_ENST00000477333.1_3'UTR|KLF5_ENST00000539231.1_Frame_Shift_Ins_p.QG134fs NM_001730.3 NP_001721.2 Q13887 KLF5_HUMAN Kruppel-like factor 5 (intestinal) 225 transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Prostate(6;0.00187)|Breast(118;0.0735) GBM - Glioblastoma multiforme(99;0.0011) CCTACCCAGCAGGGCCACCTGT 0.455 27 83 --- --- --- --- IRF9 10379 broad.mit.edu 37 14 24633132 24633134 + In_Frame_Del DEL AGC AGC - TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr14:24633132_24633134delAGC ENST00000396864.3 + 5 828_830 c.541_543delAGC c.(541-543)agcdel p.S187del IRF9_ENST00000557894.1_In_Frame_Del_p.S85del|RP11-468E2.4_ENST00000558468.1_3'UTR NM_006084.4 NP_006075.3 Q00978 IRF9_HUMAN interferon regulatory factor 9 187 Poly-Ser. interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytosol|nucleoplasm DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2) 16 GBM - Glioblastoma multiforme(265;0.00853) AGACATTGGGagcagcagcagca 0.567 8 173 --- --- --- --- NPIPB5 100132247 broad.mit.edu 37 16 22545540 22545541 + Frame_Shift_Ins INS - - GAGCGTCTGCGGG TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr16:22545540_22545541insGAGCGTCTGCGGG ENST00000424340.1 + 7 1515_1516 c.1236_1237insGAGCGTCTGCGGG c.(1237-1239)gagfs p.-417fs NPIPB5_ENST00000415654.1_3'UTR|NPIPB5_ENST00000517539.1_Frame_Shift_Ins_p.-417fs NM_001135865.1 NP_001129337.1 nuclear pore complex interacting protein family, member B5 AGACACCTGCCGAGCGTCTGCG 0.589 2 4 --- --- --- --- LOC102723841 102723841 broad.mit.edu 37 16 33365420 33365420 + RNA DEL A A - TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr16:33365420delA ENST00000568520.1 - 0 249 TACAAACTATAAAAAAACAGA 0.358 4 9 --- --- --- --- LRRC37A16P 651250 broad.mit.edu 37 17 66141032 66141032 + RNA DEL C C - rs76883902 by1000genomes TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 608f8c75-40e4-44f2-bdde-5f07aa6b4bee cfe3b114-c95c-4b06-a2b3-3a47fd83f2b2 g.chr17:66141032delC ENST00000590019.1 - 0 70 AAAAAAAAAACATAAGCCAAA 0.338 7 44 --- --- --- ---