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 ISG15 9636 broad.mit.edu 37 1 949723 949723 + Silent SNP G G A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr1:949723G>A uc001acj.3 + 2 470 c.363G>A c.(361-363)CTG>CTA p.L121L NM_005101 NP_005092 P05161 ISG15_HUMAN ISG15 ubiquitin-like modifier precursor 121 Ubiquitin-like 2. cell-cell signaling|interspecies interaction between organisms|ISG15-protein conjugation|negative regulation of type I interferon production|response to virus|type I interferon-mediated signaling pathway cytosol|extracellular space protein binding 0 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.05e-38)|OV - Ovarian serous cystadenocarcinoma(86;4.54e-23)|Colorectal(212;5.37e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00238)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199) AGGACGACCTGTTCTGGCTGA 0.647000 HTR6 3362 broad.mit.edu 37 1 20005790 20005790 + Missense_Mutation SNP G G A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr1:20005790G>A uc001bcl.2 + 3 1719 c.1252G>A c.(1252-1254)GTC>ATC p.V418I NM_000871 NP_000862 P50406 5HT6R_HUMAN 5-hydroxytryptamine (serotonin) receptor 6 418 Cytoplasmic (By similarity). G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane histamine receptor activity|protein binding ovary(1) 1 Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182) Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144) CGCTGCCGCCGTCAATTTCTT 0.716000 EPHB2 2048 broad.mit.edu 37 1 23208893 23208893 + Missense_Mutation SNP G G A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr1:23208893G>A uc009vqj.1 + 6 1490 c.1345G>A c.(1345-1347)GTG>ATG p.V449M EPHB2_uc001bge.2_Missense_Mutation_p.V449M|EPHB2_uc001bgf.2_Missense_Mutation_p.V449M|EPHB2_uc010odu.1_Missense_Mutation_p.V449M NM_017449 NP_059145 P29323 EPHB2_HUMAN ephrin receptor EphB2 isoform 1 precursor 449 Fibronectin type-III 2.|Extracellular (Potential). axon guidance integral to plasma membrane ATP binding|transmembrane-ephrin receptor activity ovary(3)|lung(1)|pancreas(1) 5 Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258) UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153) GAGCCGCACCGTGGACAGCAT 0.587000 Hereditary_Prostate_Cancer AHDC1 27245 broad.mit.edu 37 1 27876608 27876608 + Silent SNP G G A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr1:27876608G>A uc009vsy.2 - 6 2988 c.2019C>T c.(2017-2019)GGC>GGT p.G673G AHDC1_uc009vsz.1_Silent_p.G673G NM_001029882 NP_001025053 Q5TGY3 AHDC1_HUMAN AT hook, DNA binding motif, containing 1 673 Gly-rich. DNA binding central_nervous_system(1) 1 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291) CACCAAAACCGCCTGCTTTGC 0.652000 CSMD2 114784 broad.mit.edu 37 1 34052210 34052210 + Silent SNP G G A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr1:34052210G>A uc001bxn.1 - 47 6980 c.6951C>T c.(6949-6951)ATC>ATT p.I2317I CSMD2_uc001bxm.1_Silent_p.I2315I NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 2317 Sushi 13.|Extracellular (Potential). integral to membrane|plasma membrane protein binding ovary(6)|skin(5)|pancreas(1) 12 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) TGTAGCGTACGATGTCACCTG 0.483000 NEGR1 257194 broad.mit.edu 37 1 72163820 72163820 + Missense_Mutation SNP T T C TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr1:72163820T>C uc001dfw.2 - 4 638 c.538A>G c.(538-540)AAA>GAA p.K180E NEGR1_uc001dfv.2_Missense_Mutation_p.K52E|NEGR1_uc010oqs.1_Intron NM_173808 NP_776169 Q7Z3B1 NEGR1_HUMAN neuronal growth regulator 1 precursor 180 Ig-like C2-type 2. cell adhesion anchored to membrane|plasma membrane ovary(1) 1 all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117) KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242) TCAAATGGTTTTGCTATAAAA 0.373000 C1orf173 127254 broad.mit.edu 37 1 75072397 75072397 + Missense_Mutation SNP T T G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr1:75072397T>G uc001dgg.2 - 10 1596 c.1377A>C c.(1375-1377)CAA>CAC p.Q459H uc001dgh.2_Intron|C1orf173_uc001dgi.3_Missense_Mutation_p.Q253H NM_001002912 NP_001002912 Q5RHP9 CA173_HUMAN hypothetical protein LOC127254 459 Glu-rich. ovary(3)|upper_aerodigestive_tract(1)|central_nervous_system(1) 5 TTTTTATTTCTTGAGCTGAAA 0.408000 COL24A1 255631 broad.mit.edu 37 1 86590871 86590871 + Missense_Mutation SNP C C G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr1:86590871C>G uc001dlj.2 - 3 1190 c.1148G>C c.(1147-1149)AGA>ACA p.R383T COL24A1_uc010osd.1_5'UTR|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA|COL24A1_uc009wcq.2_Missense_Mutation_p.R383T NM_152890 NP_690850 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 precursor 383 cell adhesion collagen extracellular matrix structural constituent ovary(3)|central_nervous_system(1)|skin(1) 5 all cancers(265;0.0627)|Epithelial(280;0.0689) ACCAGTTACTCTATCATCATG 0.363000 HRNR 388697 broad.mit.edu 37 1 152193481 152193481 + Silent SNP G G A rs144030283 byFrequency TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr1:152193481G>A uc001ezt.1 - 3 700 c.624C>T c.(622-624)CAC>CAT p.H208H NM_001009931 NP_001009931 Q86YZ3 HORN_HUMAN hornerin 208 2. keratinization calcium ion binding|protein binding skin(2)|ovary(1) 3 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) AGCCAGAGCCGTGTTGGCCAT 0.567000 CD1A 909 broad.mit.edu 37 1 158225038 158225038 + Missense_Mutation SNP T T G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr1:158225038T>G uc001frt.2 + 2 756 c.223T>G c.(223-225)TTC>GTC p.F75V NM_001763 NP_001754 P06126 CD1A_HUMAN CD1A antigen precursor 75 Extracellular (Potential). antigen processing and presentation|immune response endosome membrane|integral to plasma membrane|MHC class I protein complex pancreas(2)|skin(1) 3 all_hematologic(112;0.0378) Antithymocyte globulin(DB00098) CAGGGGAAACTTCAGCAATGA 0.478000 OR10K1 391109 broad.mit.edu 37 1 158435857 158435857 + Missense_Mutation SNP A A T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr1:158435857A>T uc010pij.1 + 1 506 c.506A>T c.(505-507)CAC>CTC p.H169L NM_001004473 NP_001004473 Q8NGX5 O10K1_HUMAN olfactory receptor, family 10, subfamily K, 169 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 all_hematologic(112;0.0378) CTGCCCTTCCACTCCTCCAAC 0.532000 SPTA1 6708 broad.mit.edu 37 1 158622345 158622345 + Missense_Mutation SNP T T C TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr1:158622345T>C uc001fst.1 - 23 3486 c.3287A>G c.(3286-3288)GAA>GGA p.E1096G NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 1096 Spectrin 11. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) TTGAATCCATTCCAGCATGTC 0.443000 SPTA1 6708 broad.mit.edu 37 1 158653164 158653164 + Silent SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr1:158653164C>T uc001fst.1 - 3 586 c.387G>A c.(385-387)ACG>ACA p.T129T NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 129 Spectrin 2. Missing (in Ref. 3; AAA60575). actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) CATATACCTTCGTTTCTTCGT 0.393000 OR6N2 81442 broad.mit.edu 37 1 158747232 158747232 + Missense_Mutation SNP A A C TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr1:158747232A>C uc010pir.1 - 1 194 c.194T>G c.(193-195)GTT>GGT p.V65G NM_001005278 NP_001005278 Q8NGY6 OR6N2_HUMAN olfactory receptor, family 6, subfamily N, 65 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_hematologic(112;0.0378) GAAGGAAAGAACACTGACAAA 0.438000 KIAA1614 57710 broad.mit.edu 37 1 180910330 180910330 + Missense_Mutation SNP A A T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr1:180910330A>T uc001gok.2 + 7 3135 c.3068A>T c.(3067-3069)AAG>ATG p.K1023M KIAA1614_uc001gol.1_Missense_Mutation_p.K644M|KIAA1614_uc001gom.1_Missense_Mutation_p.K114M NM_020950 NP_066001 Q5VZ46 K1614_HUMAN hypothetical protein LOC57710 1023 Ser-rich. ovary(3)|skin(1) 4 AAGCTGGGCAAGTCCCGCAGC 0.622000 HSD11B1 3290 broad.mit.edu 37 1 209905907 209905907 + Missense_Mutation SNP T T C TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr1:209905907T>C uc001hhj.2 + 6 751 c.644T>C c.(643-645)CTT>CCT p.L215P HSD11B1_uc001hhk.2_Missense_Mutation_p.L215P NM_181755 NP_861420 P28845 DHI1_HUMAN 11-beta-hydroxysteroid dehydrogenase 1 215 Lumenal (Potential). glucocorticoid biosynthetic process endoplasmic reticulum membrane|integral to membrane 11-beta-hydroxysteroid dehydrogenase (NADP+) activity|11-beta-hydroxysteroid dehydrogenase|binding breast(1) 1 OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115) NADH(DB00157) CTCTGTGTTCTTGGCCTCATA 0.299000 LEFTY1 10637 broad.mit.edu 37 1 226074671 226074671 + Missense_Mutation SNP G G A rs146082781 TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr1:226074671G>A uc001hpo.2 - 4 927 c.857C>T c.(856-858)CCG>CTG p.P286L LEFTY1_uc010pvj.1_3'UTR NM_020997 NP_066277 O75610 LFTY1_HUMAN left-right determination, factor B 286 cell growth|multicellular organismal development|transforming growth factor beta receptor signaling pathway extracellular space cytokine activity|growth factor activity|transforming growth factor beta receptor binding 0 Breast(184;0.197) CAGGAAGCCCGGGGGCTCCAG 0.662000 ZNF695 57116 broad.mit.edu 37 1 247150278 247150278 + Silent SNP A A G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr1:247150278A>G uc009xgu.2 - 4 1684 c.1539T>C c.(1537-1539)ACT>ACC p.T513T ZNF695_uc001ica.2_Intron|ZNF695_uc001icb.1_Intron|ZNF695_uc009xgt.1_Intron|ZNF695_uc001ibx.2_Intron|ZNF695_uc001iby.2_Intron NM_020394 NP_065127 Q8IW36 ZN695_HUMAN zinc finger protein SBZF3 513 C2H2-type 13. regulation of transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding 0 all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518) all_cancers(173;0.0266) OV - Ovarian serous cystadenocarcinoma(106;0.00271) CTCAGGTATGAGTTTTCTCAT 0.353000 OR2G3 81469 broad.mit.edu 37 1 247769183 247769183 + Missense_Mutation SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr1:247769183C>T uc010pyz.1 + 1 296 c.296C>T c.(295-297)GCG>GTG p.A99V NM_001001914 NP_001001914 Q8NGZ4 OR2G3_HUMAN olfactory receptor, family 2, subfamily G, 99 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) GGTTGTGTGGCGCAACTCTAT 0.483000 OR6F1 343169 broad.mit.edu 37 1 247875925 247875925 + Missense_Mutation SNP T T A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr1:247875925T>A uc001idj.1 - 1 133 c.133A>T c.(133-135)ATC>TTC p.I45F NM_001005286 NP_001005286 Q8NGZ6 OR6F1_HUMAN olfactory receptor, family 6, subfamily F, 45 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.0168) AACATCAAGATAGCCACATTA 0.458000 OR2T4 127074 broad.mit.edu 37 1 248525571 248525571 + Missense_Mutation SNP T T A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr1:248525571T>A uc001ieh.1 + 1 689 c.689T>A c.(688-690)TTC>TAC p.F230Y NM_001004696 NP_001004696 Q8NH00 OR2T4_HUMAN olfactory receptor, family 2, subfamily T, 230 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 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) TATGAGATTTTCATGTACTTG 0.478000 SH3BP5L 80851 broad.mit.edu 37 1 249107243 249107243 + Missense_Mutation SNP A A C TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr1:249107243A>C uc001iew.1 - 6 1208 c.656T>G c.(655-657)ATC>AGC p.I219S SH3BP5L_uc010pzp.1_Missense_Mutation_p.I112S|SH3BP5L_uc010pzq.1_Missense_Mutation_p.I187S|SH3BP5L_uc001iev.1_Missense_Mutation_p.I100S NM_030645 NP_085148 Q7L8J4 3BP5L_HUMAN SH3-binding domain protein 5-like 219 Potential. 0 all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199) all_cancers(173;0.19) OV - Ovarian serous cystadenocarcinoma(106;0.00805) GCTCTTGCCGATGGCCCTCCG 0.652000 USP6NL 9712 broad.mit.edu 37 10 11505274 11505274 + Silent SNP G G A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr10:11505274G>A uc001ikt.3 - 15 1974 c.1653C>T c.(1651-1653)TAC>TAT p.Y551Y USP6NL_uc001iks.1_Silent_p.Y568Y NM_014688 NP_055503 Q92738 US6NL_HUMAN USP6 N-terminal like isoform 1 551 intracellular Rab GTPase activator activity 0 GCACGTTGTCGTACTGCGATG 0.662000 CUBN 8029 broad.mit.edu 37 10 17087075 17087075 + Silent SNP G G A rs112675306 byFrequency TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr10:17087075G>A uc001ioo.2 - 25 3655 c.3603C>T c.(3601-3603)AGC>AGT p.S1201S NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 1201 CUB 7. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GTTCAAATGCGCTGCCGTGGC 0.448000 SLC39A12 221074 broad.mit.edu 37 10 18242152 18242152 + Translation_Start_Site SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr10:18242152C>T uc001ipo.2 + 2 220 c.-53C>T c.(-55--51)AACGG>AATGG SLC39A12_uc001ipn.2_Translation_Start_Site|SLC39A12_uc001ipp.2_Translation_Start_Site|SLC39A12_uc010qck.1_Intron NM_001145195 NP_001138667 Q504Y0 S39AC_HUMAN solute carrier family 39 (zinc transporter), zinc ion transport integral to membrane metal ion transmembrane transporter activity ovary(1)|breast(1) 2 ACCCCATAAACGGCAACACAC 0.433000 ZNF438 220929 broad.mit.edu 37 10 31138579 31138579 + Missense_Mutation SNP G G C TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr10:31138579G>C uc010qdz.1 - 7 1190 c.755C>G c.(754-756)TCT>TGT p.S252C ZNF438_uc001ivn.2_Missense_Mutation_p.S203C|ZNF438_uc010qdy.1_Missense_Mutation_p.S242C|ZNF438_uc001ivo.3_Intron|ZNF438_uc009xlg.2_Missense_Mutation_p.S252C|ZNF438_uc001ivp.3_Missense_Mutation_p.S242C|ZNF438_uc010qea.1_Missense_Mutation_p.S252C|ZNF438_uc010qeb.1_Missense_Mutation_p.S252C|ZNF438_uc010qec.1_Intron NM_182755 NP_877432 Q7Z4V0 ZN438_HUMAN zinc finger protein 438 isoform a 252 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|breast(1) 2 Prostate(175;0.0587) GGCAACAGCAGAAGGTTTACT 0.433000 DKK1 22943 broad.mit.edu 37 10 54076525 54076525 + Missense_Mutation SNP A A T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr10:54076525A>T uc001jjr.2 + 4 913 c.759A>T c.(757-759)CAA>CAT p.Q253H uc001jjq.1_5'Flank|uc009xox.1_5'Flank NM_012242 NP_036374 O94907 DKK1_HUMAN dickkopf homolog 1 precursor 253 DKK-type Cys-2. negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization extracellular space|plasma membrane growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity ovary(1)|lung(1)|kidney(1) 3 ATCACCATCAAGCCAGTAATT 0.408000 PCDH15 65217 broad.mit.edu 37 10 56106146 56106146 + Silent SNP A A G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr10:56106146A>G uc001jju.1 - 6 968 c.573T>C c.(571-573)ATT>ATC p.I191I PCDH15_uc010qhq.1_Silent_p.I196I|PCDH15_uc010qhr.1_Silent_p.I191I|PCDH15_uc010qhs.1_Silent_p.I196I|PCDH15_uc010qht.1_Silent_p.I191I|PCDH15_uc010qhu.1_Silent_p.I191I|PCDH15_uc001jjv.1_Silent_p.I169I|PCDH15_uc010qhv.1_Silent_p.I191I|PCDH15_uc010qhw.1_Silent_p.I191I|PCDH15_uc010qhx.1_Silent_p.I191I|PCDH15_uc010qhy.1_Silent_p.I196I|PCDH15_uc010qhz.1_Silent_p.I191I|PCDH15_uc010qia.1_Silent_p.I169I|PCDH15_uc010qib.1_Silent_p.I169I|PCDH15_uc001jjw.2_Silent_p.I191I NM_033056 NP_149045 Q96QU1 PCD15_HUMAN protocadherin 15 isoform CD1-4 precursor 191 Extracellular (Potential).|Cadherin 2. equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse calcium ion binding pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2) 13 Melanoma(3;0.117)|Lung SC(717;0.238) GATTATACTGAATAACATACT 0.328000 HNSCC(58;0.16) EXOC6 54536 broad.mit.edu 37 10 94816716 94816716 + Silent SNP T T G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr10:94816716T>G uc001kig.2 + 21 2271 c.2205T>G c.(2203-2205)ACT>ACG p.T735T EXOC6_uc010qnr.1_Silent_p.T751T|EXOC6_uc001kie.2_Silent_p.T730T|EXOC6_uc009xub.2_Silent_p.T734T|EXOC6_uc009xuc.2_Silent_p.T632T|EXOC6_uc001kih.2_RNA|EXOC6_uc001kii.2_Silent_p.T309T NM_019053 NP_061926 Q8TAG9 EXOC6_HUMAN SEC15-like 1 isoform a 735 protein transport|vesicle docking involved in exocytosis exocyst skin(1) 1 Colorectal(252;0.123) ATTGGTCTACTTACCTAGCTG 0.383000 C10orf76 79591 broad.mit.edu 37 10 103789493 103789493 + Missense_Mutation SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr10:103789493C>T uc009xwy.1 - 5 418 c.316G>A c.(316-318)GCA>ACA p.A106T C10orf76_uc001kui.2_Missense_Mutation_p.A106T NM_024541 NP_078817 Q5T2E6 CJ076_HUMAN hypothetical protein LOC79591 106 integral to membrane 0 Colorectal(252;0.123) Epithelial(162;2.41e-08)|all cancers(201;6.41e-07) CGAATGAGTGCGCACAGGGTC 0.478000 OR51D1 390038 broad.mit.edu 37 11 4661487 4661487 + Missense_Mutation SNP A A G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr11:4661487A>G uc010qyk.1 + 1 467 c.467A>G c.(466-468)AAG>AGG p.K156R NM_001004751 NP_001004751 Q8NGF3 O51D1_HUMAN olfactory receptor, family 51, subfamily D, 156 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19) ACTGTGGCCAAGATTGGACTA 0.537000 RBMXL2 27288 broad.mit.edu 37 11 7111100 7111100 + Missense_Mutation SNP A A T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr11:7111100A>T uc001mfc.2 + 1 936 c.749A>T c.(748-750)GAC>GTC p.D250V NM_014469 NP_055284 O75526 HNRGT_HUMAN testes-specific heterogenous nuclear 250 Arg/Gly/Pro-rich. nucleus|ribonucleoprotein complex nucleotide binding|RNA binding 0 Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) AGTGTCCGGGACGACTGTCCC 0.642000 C11orf16 56673 broad.mit.edu 37 11 8948637 8948637 + Missense_Mutation SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr11:8948637C>T uc001mhb.3 - 4 533 c.409G>A c.(409-411)GTC>ATC p.V137I C11orf16_uc001mhc.3_Missense_Mutation_p.V137I NM_020643 NP_065694 Q9NQ32 CK016_HUMAN hypothetical protein LOC56673 137 upper_aerodigestive_tract(1)|pancreas(1) 2 Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234) TCTTCTAAGACCACTCTCTGC 0.557000 PIK3C2A 5286 broad.mit.edu 37 11 17190765 17190765 + Missense_Mutation SNP C C A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr11:17190765C>A uc001mmq.3 - 1 590 c.524G>T c.(523-525)AGA>ATA p.R175I PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.1_Intron|PIK3C2A_uc001mmr.3_RNA|PIK3C2A_uc010rcx.1_Missense_Mutation_p.R175I|PIK3C2A_uc009ygv.1_Missense_Mutation_p.R175I NM_002645 NP_002636 O00443 P3C2A_HUMAN phosphoinositide-3-kinase, class 2 alpha 175 cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity lung(4)|central_nervous_system(4)|stomach(1)|ovary(1) 10 Phosphatidylserine(DB00144) AGTGGGCATTCTTGGATTGAA 0.423000 KCNA4 3739 broad.mit.edu 37 11 30033552 30033552 + Missense_Mutation SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr11:30033552C>T uc001msk.2 - 2 1826 c.674G>A c.(673-675)CGC>CAC p.R225H NM_002233 NP_002224 P22459 KCNA4_HUMAN potassium voltage-gated channel, shaker-related 225 voltage-gated potassium channel complex potassium ion binding|protein binding|voltage-gated potassium channel activity ovary(2)|central_nervous_system(1)|pancreas(1) 4 AAAGCTGGGGCGGTTCCTGTC 0.468000 PAMR1 25891 broad.mit.edu 37 11 35454060 35454060 + Silent SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr11:35454060C>T uc001mwg.2 - 11 2050 c.2007G>A c.(2005-2007)GCG>GCA p.A669A PAMR1_uc001mwf.2_Silent_p.A686A|PAMR1_uc010rew.1_Silent_p.A558A|PAMR1_uc010rex.1_Silent_p.A629A NM_001001991 NP_001001991 Q6UXH9 PAMR1_HUMAN regeneration associated muscle protease isoform 669 Peptidase S1. proteolysis extracellular region serine-type endopeptidase activity ovary(2) 2 AGGACACAGCCGCGATGCCTC 0.567000 RAG1 5896 broad.mit.edu 37 11 36595248 36595248 + Missense_Mutation SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr11:36595248C>T uc001mwu.3 + 2 518 c.394C>T c.(394-396)CCT>TCT p.P132S RAG1_uc001mwt.2_RNA NM_000448 NP_000439 P15918 RAG1_HUMAN recombination activating gene 1 132 Interaction with importin alpha-1. histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination nucleus endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1) 5 all_lung(20;0.226) all_hematologic(20;0.107) AGTCCATGGTCCTGTGGATGG 0.498000 Familial_Hemophagocytic_Lymphohistiocytosis ACCSL 390110 broad.mit.edu 37 11 44072941 44072941 + Missense_Mutation SNP T T G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr11:44072941T>G uc001mxw.1 + 4 748 c.692T>G c.(691-693)CTT>CGT p.L231R ACCSL_uc009ykr.2_Missense_Mutation_p.L50R NM_001031854 NP_001027025 Q4AC99 1A1L2_HUMAN 1-aminocyclopropane-1-carboxylate synthase 231 1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups ovary(5) 5 CCTACCCGACTTGACCCAGAA 0.572000 TRIM48 79097 broad.mit.edu 37 11 55033158 55033158 + Missense_Mutation SNP T T G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr11:55033158T>G uc010rid.1 + 3 628 c.542T>G c.(541-543)ATC>AGC p.I181S NM_024114 NP_077019 Q8IWZ4 TRI48_HUMAN tripartite motif-containing 48 165 intracellular zinc ion binding 0 ACCACCAGAATCAGCCACTGG 0.403000 OR4A16 81327 broad.mit.edu 37 11 55110805 55110805 + Missense_Mutation SNP T T G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr11:55110805T>G uc010rie.1 + 1 129 c.129T>G c.(127-129)ATT>ATG p.I43M NM_001005274 NP_001005274 Q8NH70 O4A16_HUMAN olfactory receptor, family 4, subfamily A, 43 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(2)|pancreas(1) 3 ACCTCCTCATTTGGGTGACTA 0.438000 OR4C15 81309 broad.mit.edu 37 11 55322161 55322161 + Missense_Mutation SNP T T A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr11:55322161T>A uc010rig.1 + 1 379 c.379T>A c.(379-381)TCA>ACA p.S127T NM_001001920 NP_001001920 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, 73 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 TGCGTGCTTCTCATCTGTCAT 0.458000 HNSCC(20;0.049) FAM111A 63901 broad.mit.edu 37 11 58919986 58919986 + Missense_Mutation SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr11:58919986C>T uc010rkp.1 + 5 1072 c.845C>T c.(844-846)CCT>CTT p.P282L FAM111A_uc010rkq.1_Missense_Mutation_p.P282L|FAM111A_uc010rkr.1_Missense_Mutation_p.P282L|FAM111A_uc001nno.2_Missense_Mutation_p.P282L|FAM111A_uc001nnp.2_Missense_Mutation_p.P282L|FAM111A_uc001nnq.2_Missense_Mutation_p.P282L NM_001142521 NP_001135993 Q96PZ2 F111A_HUMAN hypothetical protein LOC63901 282 proteolysis serine-type endopeptidase activity ovary(3) 3 all_epithelial(135;0.139) TCTCAGAATCCTGAGTCAGAG 0.413000 VEGFB 7423 broad.mit.edu 37 11 64003329 64003329 + Missense_Mutation SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr11:64003329C>T uc001nyw.2 + 3 188 c.148C>T c.(148-150)CGG>TGG p.R50W VEGFB_uc001nyx.2_Missense_Mutation_p.R50W NM_003377 NP_003368 P49765 VEGFB_HUMAN vascular endothelial growth factor B precursor 50 anti-apoptosis|induction of positive chemotaxis|negative regulation of gene expression|negative regulation of neuron apoptosis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular wound healing|vascular endothelial growth factor receptor signaling pathway extracellular region|extracellular space|membrane|platelet alpha granule lumen chemoattractant activity|growth factor activity|heparin binding|vascular endothelial growth factor receptor 1 binding 0 CTGCCAGCCCCGGGAGGTGGT 0.622000 PACS1 55690 broad.mit.edu 37 11 65984206 65984206 + Missense_Mutation SNP A A C rs12798701 TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr11:65984206A>C uc001oha.1 + 7 1072 c.938A>C c.(937-939)AAG>ACG p.K313T PACS1_uc001ogz.1_Missense_Mutation_p.K313T NM_018026 NP_060496 Q6VY07 PACS1_HUMAN phosphofurin acidic cluster sorting protein 1 313 interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction cytosol protein binding ovary(6) 6 AAAGTGAAGAAGACCCGGAGG 0.532000 CABP4 57010 broad.mit.edu 37 11 67223083 67223083 + Silent SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr11:67223083C>T uc001olo.2 + 1 266 c.189C>T c.(187-189)GGC>GGT p.G63G GPR152_uc001olm.2_5'Flank|CABP4_uc001oln.2_Intron NM_145200 NP_660201 P57796 CABP4_HUMAN calcium binding protein 4 63 visual perception cytoplasm|extracellular region|terminal button calcium ion binding 0 BRCA - Breast invasive adenocarcinoma(15;8.18e-06) AGCAGACAGGCCCCGAGGCCC 0.697000 CNTN5 53942 broad.mit.edu 37 11 99827705 99827705 + Missense_Mutation SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr11:99827705C>T uc001pga.2 + 8 1180 c.841C>T c.(841-843)CTT>TTT p.L281F CNTN5_uc009ywv.1_Missense_Mutation_p.L281F|CNTN5_uc001pfz.2_Missense_Mutation_p.L281F|CNTN5_uc001pgb.2_Missense_Mutation_p.L207F NM_014361 NP_055176 O94779 CNTN5_HUMAN contactin 5 isoform long 281 Ig-like C2-type 2. cell adhesion anchored to membrane|plasma membrane protein binding skin(3)|ovary(2)|pancreas(2)|breast(1) 8 all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219) BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196) TGCTAGAGTCCTTAGTCCTCC 0.418000 ARHGAP20 57569 broad.mit.edu 37 11 110451103 110451103 + Missense_Mutation SNP T T A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr11:110451103T>A uc001pkz.1 - 16 2852 c.2567A>T c.(2566-2568)AAG>ATG p.K856M ARHGAP20_uc001pky.1_Missense_Mutation_p.K833M|ARHGAP20_uc009yyb.1_Missense_Mutation_p.K820M|ARHGAP20_uc001pla.1_Missense_Mutation_p.K820M|ARHGAP20_uc001plb.2_Missense_Mutation_p.K399M NM_020809 NP_065860 Q9P2F6 RHG20_HUMAN Rho GTPase activating protein 20 856 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(3)|kidney(2) 5 all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475) ATAGGTCAGCTTGCGGTTCTG 0.488000 HTR3B 9177 broad.mit.edu 37 11 113815433 113815433 + Missense_Mutation SNP A A G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr11:113815433A>G uc001pok.2 + 8 1113 c.1046A>G c.(1045-1047)GAC>GGC p.D349G HTR3B_uc001pol.2_Missense_Mutation_p.D338G NM_006028 NP_006019 O95264 5HT3B_HUMAN 5-hydroxytryptamine (serotonin) receptor 3B 349 Cytoplasmic (Potential). synaptic transmission integral to plasma membrane|postsynaptic membrane serotonin receptor activity|serotonin-activated cation-selective channel activity 0 all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151) ACCGATGCTGACAGGCCTAGA 0.532000 MLL 4297 broad.mit.edu 37 11 118343719 118343719 + Silent SNP G G A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr11:118343719G>A uc001pta.2 + 3 1868 c.1845G>A c.(1843-1845)CCG>CCA p.P615P MLL_uc001ptb.2_Silent_p.P615P|MLL_uc001psz.1_Silent_p.P648P|MLL_uc001ptd.1_Intron NM_005933 NP_005924 Q03164 MLL1_HUMAN myeloid/lymphoid or mixed-lineage leukemia 615 apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter MLL1 complex AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding lung(7)|ovary(5)|kidney(5)|central_nervous_system(3)|pancreas(2)|urinary_tract(1)|breast(1)|skin(1) 25 all_hematologic(175;0.046) all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244) OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144) TGCGAGAACCGACATTTAGGT 0.433000 T|O MLL|MLLT1|MLLT2|MLLT3|MLLT4|MLLT7|MLLT10|MLLT6|ELL|EPS15|AF1Q|CREBBP|SH3GL1|FNBP1|PNUTL1|MSF|GPHN|GMPS|SSH3BP1|ARHGEF12|GAS7|FOXO3A|LAF4|LCX|SEPT6|LPP|CBFA2T1|GRAF|EP300|PICALM|HEAB AML|ALL UPK2 7379 broad.mit.edu 37 11 118828883 118828883 + Silent SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr11:118828883C>T uc001puh.2 + 5 530 c.495C>T c.(493-495)GTC>GTT p.V165V NM_006760 NP_006751 O00526 UPK2_HUMAN uroplakin 2 precursor 165 Helical; (Potential). cellular membrane organization|epithelial cell differentiation|multicellular organismal development integral to endoplasmic reticulum membrane|integral to plasma membrane skin(1) 1 all_hematologic(175;0.0839) Medulloblastoma(222;0.0523)|all_hematologic(192;0.122)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;7.47e-05) TGCTCTCTGTCGCCATGTTCC 0.607000 DDX11 1663 broad.mit.edu 37 12 31254031 31254031 + Silent SNP A A G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr12:31254031A>G uc001rjt.1 + 20 2270 c.2019A>G c.(2017-2019)GAA>GAG p.E673E DDX11_uc001rjr.1_Silent_p.E673E|DDX11_uc001rjs.1_Silent_p.E673E|DDX11_uc001rju.1_Silent_p.E345E|DDX11_uc001rjv.1_Silent_p.E673E|DDX11_uc001rjw.1_Silent_p.E647E|DDX11_uc009zjn.1_RNA|DDX11_uc009zjo.1_5'Flank NM_152438 NP_689651 Q96FC9 DDX11_HUMAN DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 673 G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion midbody|nuclear chromatin|nucleolus|spindle pole ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding breast(3) 3 all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233) AGCCGCTGGAATTCACGTTCC 0.607000 Multiple Myeloma(12;0.14) CNTN1 1272 broad.mit.edu 37 12 41323661 41323661 + Missense_Mutation SNP G G A rs4408370 TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr12:41323661G>A uc001rmm.1 + 7 673 c.560G>A c.(559-561)CGA>CAA p.R187Q CNTN1_uc009zjy.1_Missense_Mutation_p.R187Q|CNTN1_uc001rmn.1_Missense_Mutation_p.R176Q|CNTN1_uc001rmo.2_Missense_Mutation_p.R187Q NM_001843 NP_001834 Q12860 CNTN1_HUMAN contactin 1 isoform 1 precursor 187 Ig-like C2-type 2. axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane lung(4)|ovary(3)|large_intestine(1)|skin(1) 9 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) GATAAACGGCGATTTGTGTCT 0.368000 TMEM194A 23306 broad.mit.edu 37 12 57454643 57454643 + Nonsense_Mutation SNP G G A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr12:57454643G>A uc001smy.2 - 8 1112 c.1066C>T c.(1066-1068)CGA>TGA p.R356* TMEM194A_uc001smx.2_Nonsense_Mutation_p.R283*|TMEM194A_uc010sra.1_Nonsense_Mutation_p.R97* NM_001130963 NP_001124435 O14524 T194A_HUMAN transmembrane protein 194A isoform a 356 integral to membrane 0 AAAGCCTTTCGGGTTTCTACC 0.478000 LRP1 4035 broad.mit.edu 37 12 57589508 57589508 + Silent SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr12:57589508C>T uc001snd.2 + 53 8971 c.8505C>T c.(8503-8505)TTC>TTT p.F2835F NM_002332 NP_002323 Q07954 LRP1_HUMAN low density lipoprotein-related protein 1 2835 LDL-receptor class A 18.|Extracellular (Potential). aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2) 22 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) CCAAGCACTTCGTGTGTGACC 0.622000 RNF34 80196 broad.mit.edu 37 12 121861308 121861308 + Missense_Mutation SNP G G A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr12:121861308G>A uc001ual.1 + 6 1162 c.1048G>A c.(1048-1050)GGC>AGC p.G350S RNF34_uc001uak.1_Missense_Mutation_p.G351S|RNF34_uc001uam.1_Missense_Mutation_p.G350S NM_025126 NP_079402 Q969K3 RNF34_HUMAN ring finger protein 34 isoform 2 350 RING-type. apoptosis endomembrane system|membrane|nuclear speck ligase activity|zinc ion binding 0 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000432)|Epithelial(86;0.00233) CACCAAGTGCGGCAAGCGCAT 0.587000 DNAH10 196385 broad.mit.edu 37 12 124409641 124409641 + Silent SNP T T G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr12:124409641T>G uc001uft.3 + 67 11482 c.11457T>G c.(11455-11457)GGT>GGG p.G3819G DNAH10_uc001ufu.3_5'UTR NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 3819 TPR 4. microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(3)|skin(2)|central_nervous_system(1) 6 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) TCCCCTTGGGTTACGATAACA 0.478000 EP400 57634 broad.mit.edu 37 12 132446433 132446433 + Silent SNP G G A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr12:132446433G>A uc001ujn.2 + 1 1304 c.1269G>A c.(1267-1269)TTG>TTA p.L423L EP400_uc001ujl.2_Silent_p.L423L|EP400_uc001ujm.2_Silent_p.L423L|EP400_uc001ujj.1_Silent_p.L423L|EP400_uc001ujk.2_Silent_p.L423L NM_015409 NP_056224 Q96L91 EP400_HUMAN E1A binding protein p400 423 histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity central_nervous_system(4)|ovary(3)|breast(3)|skin(2) 12 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) AGAATGATTTGGACATTgaag 0.279000 ATP12A 479 broad.mit.edu 37 13 25281524 25281524 + Missense_Mutation SNP C C A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr13:25281524C>A uc001upp.2 + 17 2633 c.2446C>A c.(2446-2448)CCC>ACC p.P816T ATP12A_uc010aaa.2_Missense_Mutation_p.P822T NM_001676 NP_001667 P54707 AT12A_HUMAN hydrogen/potassium-exchanging ATPase 12A 816 Lumenal (Potential). ATP biosynthetic process hydrogen:potassium-exchanging ATPase complex ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding ovary(2)|central_nervous_system(2)|large_intestine(1)|breast(1) 6 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228) Esomeprazole(DB00736)|Pantoprazole(DB00213) GCTCCCCCTGCCCATTGGCAC 0.512000 MTMR6 9107 broad.mit.edu 37 13 25825882 25825882 + Nonsense_Mutation SNP G G A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr13:25825882G>A uc001uqf.3 - 13 1829 c.1510C>T c.(1510-1512)CGA>TGA p.R504* MTMR6_uc001uqe.1_Nonsense_Mutation_p.R504* NM_004685 NP_004676 Q9Y217 MTMR6_HUMAN myotubularin related protein 6 504 cytoplasm|nuclear envelope calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity ovary(2)|skin(2) 4 Lung SC(185;0.0225)|Breast(139;0.0351) all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164) TGCAGTGTTCGATCAAATTGA 0.284000 RASL11A 387496 broad.mit.edu 37 13 27847280 27847280 + Silent SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr13:27847280C>T uc001urd.1 + 4 996 c.378C>T c.(376-378)CCC>CCT p.P126P NM_206827 NP_996563 Q6T310 RSLBA_HUMAN RAS-like, family 11, member A 126 Small GTPase-like. positive regulation of transcription from RNA polymerase I promoter|small GTPase mediated signal transduction|transcription, DNA-dependent membrane|nucleolus GTP binding|GTPase activity breast(1) 1 Lung SC(185;0.0161) Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105) all cancers(112;0.0173)|GBM - Glioblastoma multiforme(144;0.0557)|OV - Ovarian serous cystadenocarcinoma(117;0.152)|Epithelial(112;0.164) CCATCCGACCCCTTTATCAGC 0.562000 DCLK1 9201 broad.mit.edu 37 13 36521533 36521533 + Missense_Mutation SNP T T G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr13:36521533T>G uc001uvf.2 - 4 1018 c.785A>C c.(784-786)AAG>ACG p.K262T NM_004734 NP_004725 O15075 DCLK1_HUMAN doublecortin-like kinase 1 262 Doublecortin 2. cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus integral to plasma membrane ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity stomach(6)|ovary(2)|skin(1) 9 Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638) GTAACGGAACTTCTCCGGTCC 0.423000 PCDH20 64881 broad.mit.edu 37 13 61985723 61985723 + Missense_Mutation SNP C C A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr13:61985723C>A uc001vid.3 - 2 2873 c.2509G>T c.(2509-2511)GTC>TTC p.V837F PCDH20_uc010thj.1_Missense_Mutation_p.V837F NM_022843 NP_073754 Q8N6Y1 PCD20_HUMAN protocadherin 20 810 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|breast(1)|central_nervous_system(1) 6 Breast(118;0.195)|Prostate(109;0.229) GBM - Glioblastoma multiforme(99;0.000118) TTCACCATGACTGTGGAGTGG 0.423000 LMO7 4008 broad.mit.edu 37 13 76408425 76408425 + Missense_Mutation SNP A A G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr13:76408425A>G uc001vjv.2 + 14 3189 c.2429A>G c.(2428-2430)AAG>AGG p.K810R LMO7_uc010thv.1_Missense_Mutation_p.K761R|LMO7_uc001vjt.1_Missense_Mutation_p.K709R|LMO7_uc010thw.1_Missense_Mutation_p.K660R|LMO7_uc001vjw.1_Missense_Mutation_p.K716R NM_015842 NP_056667 Q8WWI1 LMO7_HUMAN LIM domain only 7 isoform 2 1095 PDZ. cytoplasm|nucleus|ubiquitin ligase complex ubiquitin-protein ligase activity|zinc ion binding large_intestine(2)|ovary(1)|prostate(1)|skin(1) 5 Breast(118;0.0992) GBM - Glioblastoma multiforme(99;0.0109) AACAACACCAAGTTTTCATAT 0.393000 SLITRK5 26050 broad.mit.edu 37 13 88328385 88328385 + Missense_Mutation SNP G G T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr13:88328385G>T uc001vln.2 + 2 961 c.742G>T c.(742-744)GAT>TAT p.D248Y SLITRK5_uc010tic.1_Intron NM_015567 NP_056382 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 precursor 248 LRRCT 1.|Extracellular (Potential). integral to membrane ovary(2)|pancreas(2)|central_nervous_system(1) 5 all_neural(89;0.101)|Medulloblastoma(90;0.163) CTCTCTAAAGGATTGGTTGGA 0.517000 DZIP1 22873 broad.mit.edu 37 13 96251664 96251664 + Missense_Mutation SNP A A G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr13:96251664A>G uc001vmk.2 - 15 2344 c.1492T>C c.(1492-1494)TCG>CCG p.S498P DZIP1_uc001vmj.2_5'UTR|DZIP1_uc001vml.2_Missense_Mutation_p.S479P NM_198968 NP_945319 Q86YF9 DZIP1_HUMAN DAZ interacting protein 1 isoform 2 498 germ cell development|multicellular organismal development|spermatogenesis cytoplasm|nucleus nucleic acid binding|protein binding|zinc ion binding ovary(2) 2 all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163) BRCA - Breast invasive adenocarcinoma(86;0.141) AGTATGTGCGACGAGAATGCC 0.343000 ZIC2 7546 broad.mit.edu 37 13 100637296 100637296 + Missense_Mutation SNP A A T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr13:100637296A>T uc001von.2 + 2 1172 c.1172A>T c.(1171-1173)AAG>ATG p.K391M NM_007129 NP_009060 O95409 ZIC2_HUMAN zinc finger protein of the cerebellum 2 391 brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception cytoplasm|nucleus chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) ACCTCCGATAAGCCCTATCTC 0.627000 HEATR5A 25938 broad.mit.edu 37 14 31852827 31852827 + Missense_Mutation SNP T T C TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr14:31852827T>C uc001wrf.3 - 4 694 c.617A>G c.(616-618)AAG>AGG p.K206R HEATR5A_uc010ami.2_Missense_Mutation_p.K104R|HEATR5A_uc001wrg.1_Missense_Mutation_p.K88R|HEATR5A_uc010tpk.1_Missense_Mutation_p.K499R NM_015473 NP_056288 Q86XA9 HTR5A_HUMAN HEAT repeat containing 5A 493 binding ovary(1) 1 Hepatocellular(127;0.0877)|Breast(36;0.137) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.0059) AGGTGAAGACTTATGTCCAGT 0.478000 FAM177A1 283635 broad.mit.edu 37 14 35546406 35546406 + Silent SNP T T G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr14:35546406T>G uc001wsp.2 + 5 780 c.321T>G c.(319-321)GCT>GCG p.A107A FAM177A1_uc001wsq.2_Silent_p.A130A NM_001079519 NP_001072987 Q8N128 F177A_HUMAN hypothetical protein LOC283635 isoform 2 107 0 TTCGGGCTGCTACATCAACTC 0.378000 ABHD12B 145447 broad.mit.edu 37 14 51352350 51352350 + Missense_Mutation SNP T T G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr14:51352350T>G uc001wys.2 + 6 520 c.505T>G c.(505-507)TTT>GTT p.F169V ABHD12B_uc001wyq.2_Missense_Mutation_p.F62V|ABHD12B_uc001wyr.2_Missense_Mutation_p.F92V|ABHD12B_uc010any.2_Intron NM_181533 NP_853511 Q7Z5M8 AB12B_HUMAN abhydrolase domain containing 12B isoform b 169 hydrolase activity breast(1) 1 all_epithelial(31;0.00481)|Breast(41;0.148) TGATGGTGGCTTTCATGTCTT 0.428000 CGRRF1 10668 broad.mit.edu 37 14 55004833 55004833 + Nonsense_Mutation SNP C C A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr14:55004833C>A uc001xay.2 + 6 822 c.731C>A c.(730-732)TCA>TAA p.S244* CGRRF1_uc001xaz.2_RNA NM_006568 NP_006559 Q99675 CGRF1_HUMAN cell growth regulator with ring finger domain 1 244 cell cycle arrest|negative regulation of cell proliferation|response to stress zinc ion binding ovary(1) 1 AATTCCTCTTCAGAAGAAAAA 0.338000 C14orf135 64430 broad.mit.edu 37 14 60581727 60581727 + Missense_Mutation SNP C C A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr14:60581727C>A uc001xer.3 + 3 725 c.203C>A c.(202-204)GCT>GAT p.A68D C14orf135_uc001xeq.2_Missense_Mutation_p.A68D NM_022495 NP_071940 Q63HM2 CN135_HUMAN hepatitis C virus F protein-binding protein 2 302 integral to membrane ovary(2) 2 Myeloproliferative disorder(585;0.163) OV - Ovarian serous cystadenocarcinoma(108;0.127) GCTGGAACAGCTATAGCATCA 0.318000 SIX6 4990 broad.mit.edu 37 14 60976191 60976191 + Silent SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr14:60976191C>T uc001xfa.3 + 1 254 c.75C>T c.(73-75)GGC>GGT p.G25G NM_007374 NP_031400 O95475 SIX6_HUMAN SIX homeobox 6 25 organ morphogenesis|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 OV - Ovarian serous cystadenocarcinoma(108;0.088) AAGAGAGCGGCGATGTGGAGC 0.667000 KCNH5 27133 broad.mit.edu 37 14 63175038 63175038 + Missense_Mutation SNP G G T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr14:63175038G>T uc001xfx.2 - 11 2206 c.2155C>A c.(2155-2157)CTG>ATG p.L719M KCNH5_uc001xfy.2_3'UTR NM_139318 NP_647479 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H, 719 Cytoplasmic (Potential). regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity ovary(4)|skin(4)|central_nervous_system(1) 9 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) TGATTCCGCAGCTCCTTCTGC 0.582000 KCNH5 27133 broad.mit.edu 37 14 63511893 63511893 + Silent SNP G G T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr14:63511893G>T uc001xfx.2 - 1 63 c.12C>A c.(10-12)GGC>GGA p.G4G KCNH5_uc001xfy.2_Silent_p.G4G|KCNH5_uc001xfz.1_Intron|KCNH5_uc001xga.2_Intron NM_139318 NP_647479 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H, 4 Cytoplasmic (Potential). regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity ovary(4)|skin(4)|central_nervous_system(1) 9 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) GCCCTCTCTTGCCCCCCGGCA 0.433000 ALDH6A1 4329 broad.mit.edu 37 14 74538929 74538929 + Missense_Mutation SNP G G C TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr14:74538929G>C uc001xpo.2 - 4 424 c.325C>G c.(325-327)CAA>GAA p.Q109E C14orf45_uc001xpm.1_Intron|ALDH6A1_uc010asa.2_Translation_Start_Site|ALDH6A1_uc010tuq.1_Intron NM_005589 NP_005580 Q02252 MMSA_HUMAN aldehyde dehydrogenase 6A1 precursor 109 mitochondrial matrix|nucleus fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity 0 BRCA - Breast invasive adenocarcinoma(234;0.00354) NADH(DB00157) ATAAGTTGTTGATAGCGGAGC 0.448000 C14orf115 55237 broad.mit.edu 37 14 74824717 74824717 + Missense_Mutation SNP C C A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr14:74824717C>A uc001xpw.3 + 2 1422 c.1231C>A c.(1231-1233)CAT>AAT p.H411N NM_018228 NP_060698 Q9H8Y1 VRTN_HUMAN hypothetical protein LOC55237 411 transposition, DNA-mediated DNA binding|transposase activity 0 BRCA - Breast invasive adenocarcinoma(234;0.00147) GTACCTGGAGCATTGCATCTC 0.577000 GPR132 29933 broad.mit.edu 37 14 105518248 105518248 + Missense_Mutation SNP C C G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr14:105518248C>G uc001yqd.2 - 4 1125 c.226G>C c.(226-228)GTG>CTG p.V76L GPR132_uc001yqc.2_5'UTR|GPR132_uc001yqe.2_Missense_Mutation_p.V67L NM_013345 NP_037477 Q9UNW8 GP132_HUMAN G protein-coupled receptor 132 76 Cytoplasmic (Potential). response to stress integral to membrane|plasma membrane G-protein coupled receptor activity ovary(2)|central_nervous_system(1) 3 all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219) OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227) Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521) ACGGCCAGCACGTTGCCCTGC 0.647000 ZNF770 54989 broad.mit.edu 37 15 35275478 35275478 + Missense_Mutation SNP T T C TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr15:35275478T>C uc001ziw.2 - 3 469 c.158A>G c.(157-159)AAG>AGG p.K53R NM_014106 NP_054825 Q6IQ21 ZN770_HUMAN zinc finger protein 770 53 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09) all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643) TTCAAATGGCTTTTGACCAGT 0.348000 FAM82A2 55177 broad.mit.edu 37 15 41043711 41043711 + Missense_Mutation SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr15:41043711C>T uc001zmo.1 - 4 581 c.437G>A c.(436-438)CGG>CAG p.R146Q FAM82A2_uc001zmp.1_Missense_Mutation_p.R146Q|FAM82A2_uc001zmq.1_Missense_Mutation_p.R146Q NM_018145 NP_060615 Q96TC7 RMD3_HUMAN family with sequence similarity 82, member A2 146 apoptosis|cell differentiation integral to membrane|microtubule|mitochondrial membrane|nucleus|spindle pole protein binding 0 ACTCCTCTCCCGGACAAACGG 0.587000 EIF3J 8669 broad.mit.edu 37 15 44846861 44846861 + Silent SNP T T G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr15:44846861T>G uc001ztv.2 + 5 532 c.405T>G c.(403-405)ACT>ACG p.T135T EIF3J_uc010ueg.1_Silent_p.T135T|EIF3J_uc001ztw.2_Silent_p.T86T NM_003758 NP_003749 O75822 EIF3J_HUMAN eukaryotic translation initiation factor 3, 135 Potential. cytosol|eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity 0 all_cancers(109;2.81e-14)|all_epithelial(112;2.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122) all cancers(107;3.13e-20)|GBM - Glioblastoma multiforme(94;9.81e-07)|COAD - Colon adenocarcinoma(120;0.0754)|Colorectal(105;0.0758) CAAAGGAAACTTTTGGTAAGA 0.373000 ADAMTSL3 57188 broad.mit.edu 37 15 84705590 84705590 + Missense_Mutation SNP A A C TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr15:84705590A>C uc002bjz.3 + 29 5044 c.4820A>C c.(4819-4821)AAG>ACG p.K1607T ADAMTSL3_uc010bmu.1_Missense_Mutation_p.K1607T NM_207517 NP_997400 P82987 ATL3_HUMAN ADAMTS-like 3 precursor 1607 TSP type-1 10. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1) 27 BRCA - Breast invasive adenocarcinoma(143;0.211) GGCCCTTGGAAGCCCTGTACA 0.498000 ALPK3 57538 broad.mit.edu 37 15 85383024 85383024 + Missense_Mutation SNP A A T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr15:85383024A>T uc002ble.2 + 5 1287 c.1120A>T c.(1120-1122)ATG>TTG p.M374L NM_020778 NP_065829 Q96L96 ALPK3_HUMAN alpha-kinase 3 374 heart development nucleus ATP binding|protein serine/threonine kinase activity stomach(3)|ovary(3)|lung(2)|skin(2)|central_nervous_system(1)|breast(1) 12 BRCA - Breast invasive adenocarcinoma(143;0.0587) GGTGGGCACCATGACTGAGTA 0.592000 FANCI 55215 broad.mit.edu 37 15 89828380 89828380 + Silent SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr15:89828380C>T uc010bnp.1 + 18 1842 c.1752C>T c.(1750-1752)TGC>TGT p.C584C FANCI_uc002bnm.1_Silent_p.C584C|FANCI_uc002bnn.1_RNA|FANCI_uc002bnp.1_Silent_p.C405C|FANCI_uc002bnq.1_5'UTR NM_001113378 NP_001106849 Q9NVI1 FANCI_HUMAN Fanconi anemia, complementation group I isoform 584 cell cycle|DNA repair nucleoplasm protein binding ovary(2) 2 Lung NSC(78;0.0472)|all_lung(78;0.089) AAACTTTTTGCCTTGAGATCA 0.418000 Direct_reversal_of_damage|Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia BLM 641 broad.mit.edu 37 15 91306363 91306363 + Missense_Mutation SNP G G T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr15:91306363G>T uc002bpr.2 + 8 2147 c.2050G>T c.(2050-2052)GAC>TAC p.D684Y BLM_uc010uqh.1_Missense_Mutation_p.D684Y|BLM_uc010uqi.1_Missense_Mutation_p.D309Y|BLM_uc010bnx.2_Missense_Mutation_p.D684Y|BLM_uc002bps.1_Missense_Mutation_p.D246Y NM_000057 NP_000048 P54132 BLM_HUMAN Bloom syndrome protein 684 Helicase ATP-binding. double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray cytoplasm|lateral element|nuclear matrix|nucleolus|PML body ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding ovary(3)|skin(2)|breast(1) 6 Lung NSC(78;0.0875)|all_lung(78;0.109) Lung(145;0.189) GCTTGGTGAAGACTGTTTTAT 0.343000 Mis|N|F leukemia|lymphoma|skin squamous cell |other cancers Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents Bloom_syndrome C16orf63 123811 broad.mit.edu 37 16 15978053 15978053 + Missense_Mutation SNP T T C TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr16:15978053T>C uc002dec.1 - 2 43 c.38A>G c.(37-39)GAC>GGC p.D13G C16orf63_uc002ded.1_Missense_Mutation_p.D13G NM_144600 NP_653201 Q96NB1 FOPNL_HUMAN hypothetical protein LOC123811 13 Necessary and sufficient for homooligomerization and localization to centrosomes and pericentriolar satellites. cilium assembly|microtubule anchoring centriolar satellite|microtubule basal body|motile cilium identical protein binding 0 TTCCAAGGTGTCCTTTAAAAC 0.373000 ZNF48 197407 broad.mit.edu 37 16 30409955 30409955 + Nonsense_Mutation SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr16:30409955C>T uc002dya.1 + 2 1443 c.1384C>T c.(1384-1386)CGA>TGA p.R462* ZNF48_uc002dxz.1_Nonsense_Mutation_p.R339* NM_152652 NP_689865 Q96MX3 ZNF48_HUMAN zinc finger protein 48 462 Pro-rich.|C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 GGGCTTCCGCCGAAGCTCTGA 0.637000 SRCAP 10847 broad.mit.edu 37 16 30732561 30732561 + Missense_Mutation SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr16:30732561C>T uc002dze.1 + 21 3690 c.3305C>T c.(3304-3306)CCA>CTA p.P1102L SRCAP_uc002dzf.2_Intron|SRCAP_uc002dzg.1_Missense_Mutation_p.P959L|SRCAP_uc010bzz.1_Missense_Mutation_p.P672L NM_006662 NP_006653 Q6ZRS2 SRCAP_HUMAN Snf2-related CBP activator protein 1102 Pro-rich. interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity ovary(3)|skin(1) 4 Colorectal(24;0.198) CCTCCCACGCCAACCTTGTCC 0.602000 HEATR3 55027 broad.mit.edu 37 16 50102711 50102711 + Missense_Mutation SNP G G T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr16:50102711G>T uc002efw.2 + 3 494 c.332G>T c.(331-333)GGT>GTT p.G111V HEATR3_uc002efx.2_Missense_Mutation_p.G25V NM_182922 NP_891552 Q7Z4Q2 HEAT3_HUMAN HEAT repeat containing 3 111 binding ovary(1)|skin(1) 2 GCTTGTGGAGGTTTTGAAGTT 0.383000 CHD9 80205 broad.mit.edu 37 16 53191212 53191212 + Missense_Mutation SNP T T G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr16:53191212T>G uc002ehb.2 + 1 1375 c.1211T>G c.(1210-1212)CTT>CGT p.L404R CHD9_uc002egy.2_Missense_Mutation_p.L404R|CHD9_uc002egz.1_Missense_Mutation_p.L404R|CHD9_uc002eha.1_Missense_Mutation_p.L404R|CHD9_uc002ehc.2_Missense_Mutation_p.L404R NM_025134 NP_079410 Q3L8U1 CHD9_HUMAN chromodomain helicase DNA binding protein 9 404 cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1) 7 all_cancers(37;0.0212) TTCACAGGACTTGACCCCGAG 0.403000 EXOC3L 283849 broad.mit.edu 37 16 67223060 67223060 + Missense_Mutation SNP G G A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr16:67223060G>A uc002erx.1 - 3 311 c.70C>T c.(70-72)CGG>TGG p.R24W EXOC3L_uc002erv.1_RNA|EXOC3L_uc002erw.1_5'UTR|EXOC3L_uc002ery.1_Missense_Mutation_p.R29W|EXOC3L_uc010vje.1_Missense_Mutation_p.R24W NM_178516 NP_848611 Q86VI1 EX3L1_HUMAN exocyst complex component 3-like 24 Mediates interaction with EXOC2, EXOC4 and EXOC5 (By similarity). exocytosis|peptide hormone secretion exocyst|stored secretory granule|transport vesicle 0 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0021)|Epithelial(162;0.0073)|all cancers(182;0.0616) TGCTCTGCCCGCTCCTGCTCT 0.657000 HYDIN 54768 broad.mit.edu 37 16 70977783 70977783 + Missense_Mutation SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr16:70977783C>T uc002ezr.2 - 42 6726 c.6598G>A c.(6598-6600)GAG>AAG p.E2200K NM_032821 NP_116210 Q4G0P3 HYDIN_HUMAN hydrocephalus inducing isoform a 2201 ovary(1)|skin(1) 2 Ovarian(137;0.0654) AGCCCGGTCTCGCCTCCGACA 0.522000 BCMO1 53630 broad.mit.edu 37 16 81324114 81324114 + Missense_Mutation SNP A A C TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr16:81324114A>C uc002fgn.1 + 11 1794 c.1576A>C c.(1576-1578)AAA>CAA p.K526Q BCMO1_uc010vnp.1_Missense_Mutation_p.K457Q NM_017429 NP_059125 Q9HAY6 BCDO1_HUMAN beta-carotene 15,15'-monooxygenase 526 retinoid metabolic process|steroid metabolic process cytosol beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity 0 CTGGGACACAAAAAAGCAGGC 0.547000 MBTPS1 8720 broad.mit.edu 37 16 84126890 84126890 + Missense_Mutation SNP C C G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr16:84126890C>G uc002fhi.2 - 6 1251 c.749G>C c.(748-750)GGC>GCC p.G250A NM_003791 NP_003782 Q14703 MBTP1_HUMAN membrane-bound transcription factor site-1 250 Serine protease.|Lumenal (Potential). cholesterol metabolic process|proteolysis endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane serine-type endopeptidase activity ovary(2) 2 CACGAATGTGCCATGGCCCAA 0.488000 ITGAE 3682 broad.mit.edu 37 17 3661134 3661134 + Missense_Mutation SNP T T G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr17:3661134T>G uc002fwo.3 - 9 985 c.886A>C c.(886-888)AGC>CGC p.S296R NM_002208 NP_002199 P38570 ITAE_HUMAN integrin, alpha E precursor 296 VWFA.|Extracellular (Potential). cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity large_intestine(2)|breast(1)|pancreas(1) 4 UCEC - Uterine corpus endometrioid carcinoma (3;0.0813) GAGCCGTGGCTTGAGGTGAAG 0.527000 ZZEF1 23140 broad.mit.edu 37 17 3992174 3992174 + Missense_Mutation SNP T T G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr17:3992174T>G uc002fxe.2 - 13 2103 c.2039A>C c.(2038-2040)AAG>ACG p.K680T ZZEF1_uc002fxk.1_Missense_Mutation_p.K680T NM_015113 NP_055928 O43149 ZZEF1_HUMAN zinc finger, ZZ type with EF hand domain 1 680 calcium ion binding|zinc ion binding ovary(2)|central_nervous_system(1)|pancreas(1) 4 GCAGAGGAACTTCACCATCAA 0.502000 TP53 7157 broad.mit.edu 37 17 7579472 7579472 + Missense_Mutation SNP G G C rs1042522 byFrequency TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr17:7579472G>C uc002gim.2 - 4 409 c.215C>G c.(214-216)CCC>CGC p.P72R TP53_uc002gig.1_Missense_Mutation_p.P72R|TP53_uc002gih.2_Missense_Mutation_p.P72R|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Missense_Mutation_p.P72R|TP53_uc010cni.1_Missense_Mutation_p.P72R|TP53_uc002gij.2_Missense_Mutation_p.P72R|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Missense_Mutation_p.P33R|TP53_uc010cnk.1_Missense_Mutation_p.P87R NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 72 Interaction with WWOX.|Interaction with HRMT1L2. P -> C (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> L (in a sporadic cancer; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> G (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(7)|p.R72fs*51(6)|p.G59fs*23(3)|p.R72C(2)|p.R72H(2)|p.E68fs*76(1)|p.D48fs*55(1)|p.P13fs*18(1)|p.R65fs*38(1)|p.D57_A76del20(1)|p.S33fs*23(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) AGGGGCCACGGGGGGAGCAGC 0.607000 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) DNAH2 146754 broad.mit.edu 37 17 7701486 7701486 + Missense_Mutation SNP G G A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr17:7701486G>A uc002giu.1 + 53 8256 c.8242G>A c.(8242-8244)GTG>ATG p.V2748M NM_020877 NP_065928 Q9P225 DYH2_HUMAN dynein heavy chain domain 3 2748 AAA 4 (By similarity).|TPR 2. ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(6)|skin(6)|central_nervous_system(1) 13 all_cancers(10;4.66e-07)|Prostate(122;0.081) CACACGGATCGTGCGGGTCAT 0.637000 MYH8 4626 broad.mit.edu 37 17 10303844 10303844 + Missense_Mutation SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr17:10303844C>T uc002gmm.2 - 27 3693 c.3598G>A c.(3598-3600)GCA>ACA p.A1200T uc002gml.1_Intron NM_002472 NP_002463 P13535 MYH8_HUMAN myosin, heavy chain 8, skeletal muscle, 1200 Potential. muscle filament sliding cytosol|muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle skin(6)|ovary(3)|breast(2) 11 ATACTGTCTGCGTGCTTCTTC 0.547000 Trismus-Pseudocamptodactyly_Syndrome_with_Cardiac_Myxoma_and_Freckling MYH3 4621 broad.mit.edu 37 17 10550594 10550594 + Missense_Mutation SNP A A C TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr17:10550594A>C uc002gmq.1 - 9 880 c.803T>G c.(802-804)CTT>CGT p.L268R NM_002470 NP_002461 P11055 MYH3_HUMAN myosin, heavy chain 3, skeletal muscle, 268 Myosin head-like. muscle filament sliding|muscle organ development cytosol|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(4)|central_nervous_system(2)|pancreas(1) 7 TTTTTCCAGAAGATCTGGAAC 0.428000 DNAH9 1770 broad.mit.edu 37 17 11711210 11711210 + Missense_Mutation SNP A A G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr17:11711210A>G uc002gne.2 + 44 8650 c.8582A>G c.(8581-8583)AAG>AGG p.K2861R DNAH9_uc010coo.2_Missense_Mutation_p.K2155R NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 2861 AAA 4 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) CAGGACTTCAAGGTAAAAGGT 0.567000 CORO6 84940 broad.mit.edu 37 17 27946705 27946705 + Silent SNP G G A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr17:27946705G>A uc002hel.2 - 2 287 c.285C>T c.(283-285)AAC>AAT p.N95N CORO6_uc002hem.2_5'Flank|CORO6_uc002hen.2_5'Flank NM_032854 NP_116243 Q6QEF8 CORO6_HUMAN coronin 6 95 WD 1. actin cytoskeleton organization actin cytoskeleton actin filament binding 0 TGGCGATAACGTTGTCATTGT 0.582000 TNS4 84951 broad.mit.edu 37 17 38634897 38634897 + Silent SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr17:38634897C>T uc010cxb.2 - 11 2078 c.1914G>A c.(1912-1914)GTG>GTA p.V638V TNS4_uc002huu.3_Silent_p.V51V NM_032865 NP_116254 Q8IZW8 TENS4_HUMAN tensin 4 precursor 638 Phosphatase tensin-type. apoptosis|protein localization cytoplasm|cytoskeleton|focal adhesion actin binding large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1) 4 Breast(137;0.000496) STAD - Stomach adenocarcinoma(5;5.91e-05) GCCGGAAAAACACCCTAGGAG 0.587000 KRT33B 3884 broad.mit.edu 37 17 39521764 39521764 + Silent SNP G G A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr17:39521764G>A uc002hwl.2 - 4 675 c.630C>T c.(628-630)AAC>AAT p.N210N NM_002279 NP_002270 Q14525 KT33B_HUMAN type I hair keratin 3B 210 Linker 12.|Rod. intermediate filament protein binding|structural molecule activity 0 Breast(137;0.000496) CCACCTCCACGTTGAGGCGGT 0.522000 PHOSPHO1 162466 broad.mit.edu 37 17 47302153 47302153 + Missense_Mutation SNP G G A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr17:47302153G>A uc010wlv.1 - 3 625 c.259C>T c.(259-261)CGG>TGG p.R87W PHOSPHO1_uc002ios.2_Missense_Mutation_p.R112W NM_178500 NP_848595 Q8TCT1 PHOP1_HUMAN phosphatase, orphan 1 isoform 2 87 regulation of bone mineralization metal ion binding|phosphoethanolamine/phosphocholine phosphatase activity 0 Epithelial(5;8.1e-06)|all cancers(6;7.71e-05) Choline(DB00122) CTCAGGTCCCGCGGCCGCACG 0.637000 BZRAP1 9256 broad.mit.edu 37 17 56388310 56388310 + Missense_Mutation SNP G G T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr17:56388310G>T uc002ivx.3 - 19 4217 c.3346C>A c.(3346-3348)CTC>ATC p.L1116I BZRAP1_uc010dcs.2_Missense_Mutation_p.L1056I|BZRAP1_uc010wnt.1_Missense_Mutation_p.L1116I NM_004758 NP_004749 O95153 RIMB1_HUMAN peripheral benzodiazepine receptor-associated 1116 Pro-rich. mitochondrion benzodiazepine receptor binding upper_aerodigestive_tract(2)|skin(1) 3 Medulloblastoma(34;0.127)|all_neural(34;0.237) GGGTGCTGGAGAGGAGAGCTG 0.672000 LRRC37A3 374819 broad.mit.edu 37 17 62856576 62856576 + Missense_Mutation SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr17:62856576C>T uc002jey.2 - 11 4219 c.3688G>A c.(3688-3690)GCC>ACC p.A1230T LRRC37A3_uc010wqg.1_Missense_Mutation_p.A348T|LRRC37A3_uc002jex.1_Missense_Mutation_p.A207T|LRRC37A3_uc010wqf.1_Missense_Mutation_p.A268T|LRRC37A3_uc010dek.1_Missense_Mutation_p.A236T NM_199340 NP_955372 O60309 L37A3_HUMAN leucine rich repeat containing 37, member A3 1230 Extracellular (Potential). integral to membrane 0 GTGTAGACGGCGTTTCCCGCT 0.567000 GPS1 2873 broad.mit.edu 37 17 80011241 80011241 + Missense_Mutation SNP T T C TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr17:80011241T>C uc002kdl.1 + 2 170 c.125T>C c.(124-126)CTG>CCG p.L42P RFNG_uc002kdh.2_5'Flank|RFNG_uc002kdj.2_5'Flank|GPS1_uc002kdk.1_Missense_Mutation_p.L82P|GPS1_uc010dij.1_Missense_Mutation_p.L82P|GPS1_uc002kdm.1_Missense_Mutation_p.L26P|GPS1_uc002kdn.1_Missense_Mutation_p.L42P|GPS1_uc002kdo.1_Missense_Mutation_p.L42P|GPS1_uc010wvh.1_Missense_Mutation_p.L34P NM_004127 NP_004118 Q13098 CSN1_HUMAN G protein pathway suppressor 1 isoform 2 42 cell cycle|cullin deneddylation|inactivation of MAPK activity|JNK cascade cytoplasm|signalosome GTPase inhibitor activity|protein binding central_nervous_system(1) 1 all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211) AACCCCAGCCTGGTACGGAGC 0.637000 C18orf1 753 broad.mit.edu 37 18 13645159 13645159 + Missense_Mutation SNP A A T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr18:13645159A>T uc002ksa.2 + 7 1092 c.424A>T c.(424-426)ACA>TCA p.T142S C18orf1_uc002ksb.2_Missense_Mutation_p.T124S|C18orf1_uc002kse.2_Missense_Mutation_p.T105S|C18orf1_uc002ksf.2_Missense_Mutation_p.T87S|C18orf1_uc002ksg.1_Missense_Mutation_p.T65S|C18orf1_uc002ksh.1_Missense_Mutation_p.T84S|C18orf1_uc002ksi.1_Missense_Mutation_p.T66S NM_181481 NP_852146 O15165 CR001_HUMAN hypothetical protein LOC753 isoform alpha 1 142 Cytoplasmic (Potential). integral to membrane|plasma membrane ovary(2)|skin(1) 3 READ - Rectum adenocarcinoma(73;0.0642) GGACAGGTTCACAGCGCCGTC 0.547000 ST8SIA5 29906 broad.mit.edu 37 18 44260338 44260338 + Silent SNP G G A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr18:44260338G>A uc002lcj.1 - 7 1366 c.798C>T c.(796-798)GAC>GAT p.D266D ST8SIA5_uc002lci.1_Silent_p.D113D|ST8SIA5_uc010xcy.1_Silent_p.D302D|ST8SIA5_uc010xcz.1_Silent_p.D235D NM_013305 NP_037437 O15466 SIA8E_HUMAN ST8 alpha-N-acetyl-neuraminide 266 Lumenal (Potential). glycosphingolipid biosynthetic process|protein glycosylation integral to Golgi membrane upper_aerodigestive_tract(1)|ovary(1)|pancreas(1) 3 ATTCGAAGTCGTCCAGCACGT 0.612000 POLI 11201 broad.mit.edu 37 18 51813737 51813737 + Missense_Mutation SNP G G A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr18:51813737G>A uc002lfj.3 + 8 1222 c.1154G>A c.(1153-1155)CGT>CAT p.R385H POLI_uc010xds.1_Missense_Mutation_p.R306H|POLI_uc002lfk.3_Missense_Mutation_p.R282H|POLI_uc010dpg.2_5'UTR NM_007195 NP_009126 Q9UNA4 POLI_HUMAN DNA polymerase iota 385 DNA binding. DNA repair|DNA replication nucleoplasm damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding ovary(2)|kidney(1) 3 Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197) CGTGAGAGTCGTCAGTGCCCT 0.403000 DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage JSRP1 126306 broad.mit.edu 37 19 2254273 2254273 + Missense_Mutation SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr19:2254273C>T uc002lvi.1 - 3 210 c.175G>A c.(175-177)GTG>ATG p.V59M JSRP1_uc002lvj.1_Missense_Mutation_p.V59M NM_144616 NP_653217 Q96MG2 JSPR1_HUMAN junctional sarcoplasmic reticulum protein 1 59 Mediates interaction with CACNA1S (By similarity). sarcoplasmic reticulum membrane pancreas(1) 1 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) CTGGTGTCCACACTGGGGCCT 0.592000 OREG0025137 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) CREB3L3 84699 broad.mit.edu 37 19 4171144 4171144 + Missense_Mutation SNP A A C TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr19:4171144A>C uc002lzl.2 + 8 1063 c.947A>C c.(946-948)AAG>ACG p.K316T CREB3L3_uc002lzm.2_Missense_Mutation_p.K306T|CREB3L3_uc010xib.1_Missense_Mutation_p.K305T|CREB3L3_uc010xic.1_Missense_Mutation_p.Q271H NM_032607 NP_115996 Q68CJ9 CR3L3_HUMAN cAMP responsive element binding protein 3-like 316 Cytoplasmic (Potential). response to unfolded protein endoplasmic reticulum membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|skin(1) 2 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18) TCCACCAGCAAGTCAGCCCAG 0.612000 OR2Z1 284383 broad.mit.edu 37 19 8841411 8841411 + Silent SNP G G A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr19:8841411G>A uc010xkg.1 + 1 21 c.21G>A c.(19-21)TCG>TCA p.S7S NM_001004699 NP_001004699 Q8NG97 OR2Z1_HUMAN olfactory receptor, family 2, subfamily Z, 7 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|skin(1) 2 TGAATCAGTCGGTGGCCTCAG 0.468000 MUC16 94025 broad.mit.edu 37 19 9072734 9072734 + Missense_Mutation SNP C C A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr19:9072734C>A uc002mkp.2 - 3 14916 c.14712G>T c.(14710-14712)CAG>CAT p.Q4904H NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 4906 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 AGGTGATCTCCTGGGAGATGC 0.483000 RHPN2 85415 broad.mit.edu 37 19 33486967 33486967 + Missense_Mutation SNP T T G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr19:33486967T>G uc002nuf.2 - 11 1451 c.1385A>C c.(1384-1386)GAC>GCC p.D462A RHPN2_uc010xro.1_Missense_Mutation_p.D311A|RHPN2_uc002nue.2_Missense_Mutation_p.D192A NM_033103 NP_149094 Q8IUC4 RHPN2_HUMAN rhophilin, Rho GTPase binding protein 2 462 signal transduction perinuclear region of cytoplasm protein binding central_nervous_system(5)|ovary(1) 6 Esophageal squamous(110;0.137) GTTCAGCAGGTCATCCTCCTC 0.617000 CHST8 64377 broad.mit.edu 37 19 34263466 34263466 + Missense_Mutation SNP G G A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr19:34263466G>A uc002nus.3 + 5 1278 c.773G>A c.(772-774)CGC>CAC p.R258H CHST8_uc002nut.3_Missense_Mutation_p.R258H|CHST8_uc002nuu.2_Missense_Mutation_p.R258H NM_001127895 NP_001121367 Q9H2A9 CHST8_HUMAN carbohydrate (N-acetylgalactosamine 4-0) 258 PAPS (By similarity).|Lumenal (Potential). carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process Golgi membrane|integral to membrane N-acetylgalactosamine 4-O-sulfotransferase activity skin(2)|large_intestine(1)|ovary(1) 4 Esophageal squamous(110;0.162) CTCTTTGTCCGCGAGCCCTTC 0.607000 ZNF540 163255 broad.mit.edu 37 19 38102725 38102725 + Missense_Mutation SNP G G A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr19:38102725G>A uc002ogq.2 + 5 876 c.544G>A c.(544-546)GAT>AAT p.D182N ZNF540_uc002ogu.2_Missense_Mutation_p.D182N|ZNF540_uc010efq.2_Missense_Mutation_p.D150N NM_152606 NP_689819 Q8NDQ6 ZN540_HUMAN zinc finger protein 540 182 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1) 1 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TGGGAAAATAGATTCTGATGT 0.353000 CATSPERG 57828 broad.mit.edu 37 19 38852366 38852366 + Silent SNP A A G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr19:38852366A>G uc002oih.3 + 17 2046 c.1959A>G c.(1957-1959)AGA>AGG p.R653R CATSPERG_uc002oig.3_Silent_p.R613R|CATSPERG_uc002oif.3_Silent_p.R293R|CATSPERG_uc010efw.2_RNA NM_021185 NP_067008 Q6ZRH7 CTSRG_HUMAN cation channel, sperm-associated, gamma 653 Extracellular (Potential). cell differentiation|multicellular organismal development|spermatogenesis integral to membrane ovary(1)|skin(1) 2 GTCCGCAGAGATACACGCGCC 0.667000 RYR1 6261 broad.mit.edu 37 19 38956792 38956792 + Missense_Mutation SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr19:38956792C>T uc002oit.2 + 24 3062 c.2932C>T c.(2932-2934)CCG>TCG p.P978S RYR1_uc002oiu.2_Missense_Mutation_p.P978S NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 978 2.|Cytoplasmic.|6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GCGGCTGACGCCGGCGCAGAC 0.652000 ARHGEF1 9138 broad.mit.edu 37 19 42407468 42407468 + Missense_Mutation SNP G G A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr19:42407468G>A uc002orx.2 + 19 1859 c.1750G>A c.(1750-1752)GAA>AAA p.E584K ARHGEF1_uc002ory.2_Missense_Mutation_p.E551K|ARHGEF1_uc002orz.2_Missense_Mutation_p.E422K|ARHGEF1_uc002osa.2_Missense_Mutation_p.E599K|ARHGEF1_uc002osb.2_Missense_Mutation_p.E566K|ARHGEF1_uc002osc.2_Missense_Mutation_p.E338K|ARHGEF1_uc002osd.2_Missense_Mutation_p.E243K|ARHGEF1_uc002ose.2_Missense_Mutation_p.E28K NM_004706 NP_004697 Q92888 ARHG1_HUMAN Rho guanine nucleotide exchange factor 1 isoform 584 DH. cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction cytosol|plasma membrane GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity ovary(3)|large_intestine(1) 4 Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425) Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644) AGAGCCCACAGAACGGGAGAA 0.592000 BCAM 4059 broad.mit.edu 37 19 45322614 45322614 + Silent SNP A A G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr19:45322614A>G uc002ozu.2 + 12 1529 c.1485A>G c.(1483-1485)CCA>CCG p.P495P BCAM_uc002ozt.1_Silent_p.P495P NM_005581 NP_005572 P50895 BCAM_HUMAN basal cell adhesion molecule isoform 1 495 Extracellular (Potential).|Ig-like C2-type 3. cell-matrix adhesion integral to plasma membrane laminin binding|laminin receptor activity skin(1) 1 Lung NSC(12;0.000789)|all_lung(12;0.00218) Ovarian(192;0.0728)|all_neural(266;0.112) CCGCAGAGCCAATCCCCGGAC 0.657000 KCNC3 3748 broad.mit.edu 37 19 50827318 50827318 + Missense_Mutation SNP A A G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr19:50827318A>G uc002pru.1 - 2 1187 c.892T>C c.(892-894)TTC>CTC p.F298L KCNC3_uc002prt.1_5'UTR NM_004977 NP_004968 Q14003 KCNC3_HUMAN Shaw-related voltage-gated potassium channel 298 Helical; Name=Segment S1; (Potential). cell death voltage-gated potassium channel complex voltage-gated potassium channel activity pancreas(1) 1 all_neural(266;0.057)|Ovarian(192;0.208) OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181) AGGATGAAGAAGAGGGAGGCG 0.577000 SIGLEC10 89790 broad.mit.edu 37 19 51914402 51914402 + Missense_Mutation SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr19:51914402C>T uc002pwo.2 - 11 2661 c.2045G>A c.(2044-2046)CGG>CAG p.R682Q SIGLEC10_uc002pwp.2_Missense_Mutation_p.R624Q|SIGLEC10_uc002pwq.2_Missense_Mutation_p.R529Q|SIGLEC10_uc002pwr.2_Missense_Mutation_p.R587Q|SIGLEC10_uc010ycy.1_Missense_Mutation_p.R497Q|SIGLEC10_uc010ycz.1_Missense_Mutation_p.R539Q|SIGLEC10_uc010eow.2_Missense_Mutation_p.R399Q NM_033130 NP_149121 Q96LC7 SIG10_HUMAN sialic acid binding Ig-like lectin 10 precursor 682 Cytoplasmic (Potential). cell adhesion extracellular region|integral to membrane|plasma membrane sugar binding skin(1) 1 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101) CTTGGGCATCCGGGCCTCAGG 0.572000 BIRC8 112401 broad.mit.edu 37 19 53793336 53793336 + Missense_Mutation SNP T T G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr19:53793336T>G uc002qbk.2 - 1 1540 c.292A>C c.(292-294)ACA>CCA p.T98P NM_033341 NP_203127 Q96P09 BIRC8_HUMAN baculoviral IAP repeat-containing 8 98 apoptosis zinc ion binding lung(1) 1 GBM - Glioblastoma multiforme(134;0.00304) AGTGATGGTGTTTTCTTGGTA 0.368000 ZSCAN5B 342933 broad.mit.edu 37 19 56702324 56702324 + Silent SNP G G A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr19:56702324G>A uc010ygh.1 - 3 621 c.621C>T c.(619-621)GAC>GAT p.D207D NM_001080456 NP_001073925 A6NJL1 ZSA5B_HUMAN zinc finger and SCAN domain containing 5B 207 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 CACCTGTTACGTCAATACTCT 0.507000 ZNF667 63934 broad.mit.edu 37 19 56953232 56953232 + Silent SNP T T G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr19:56953232T>G uc002qnd.2 - 5 1294 c.1132A>C c.(1132-1134)AGA>CGA p.R378R ZNF667_uc010etl.2_Silent_p.R160R|ZNF667_uc002qne.2_Silent_p.R378R|ZNF667_uc010etm.2_Silent_p.R321R NM_022103 NP_071386 Q5HYK9 ZN667_HUMAN zinc finger protein 667 378 C2H2-type 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1) 1 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0615) TTATGAATTCTTAGATGCAGA 0.378000 ZNF135 7694 broad.mit.edu 37 19 58578513 58578513 + Missense_Mutation SNP A A G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr19:58578513A>G uc010yhq.1 + 5 793 c.697A>G c.(697-699)AAG>GAG p.K233E ZNF135_uc002qre.2_Missense_Mutation_p.K221E|ZNF135_uc002qrd.1_Missense_Mutation_p.K179E|ZNF135_uc002qrf.2_Missense_Mutation_p.K179E|ZNF135_uc002qrg.2_Missense_Mutation_p.K191E|ZNF135_uc010yhr.1_Missense_Mutation_p.K42E NM_003436 NP_003427 B4DHH9 B4DHH9_HUMAN zinc finger protein 135 isoform 2 233 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161) GGAATGCGGAAAGGCCTTTAG 0.473000 C2orf71 388939 broad.mit.edu 37 2 29295113 29295113 + Missense_Mutation SNP T T C TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr2:29295113T>C uc002rmt.1 - 1 2015 c.2015A>G c.(2014-2016)AAG>AGG p.K672R NM_001029883 NP_001025054 A6NGG8 CB071_HUMAN hypothetical protein LOC388939 672 response to stimulus|visual perception photoreceptor outer segment skin(1) 1 ACTGAAGTTCTTGGTGAGGGA 0.547000 SLC8A1 6546 broad.mit.edu 37 2 40342635 40342635 + Missense_Mutation SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr2:40342635C>T uc002rrx.2 - 10 2704 c.2680G>A c.(2680-2682)GCA>ACA p.A894T uc002rrw.2_Intron|SLC8A1_uc002rry.2_Missense_Mutation_p.A889T|SLC8A1_uc002rrz.2_Missense_Mutation_p.A881T|SLC8A1_uc002rsa.2_Missense_Mutation_p.A858T|SLC8A1_uc002rsd.3_Missense_Mutation_p.A858T NM_021097 NP_066920 P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium 894 Helical; (Potential). cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) CCATTGGCTGCGTGGTAGATG 0.542000 EPAS1 2034 broad.mit.edu 37 2 46607812 46607812 + Missense_Mutation SNP G G T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr2:46607812G>T uc002ruv.2 + 12 2489 c.2001G>T c.(1999-2001)TTG>TTT p.L667F EPAS1_uc002ruw.2_Missense_Mutation_p.L133F NM_001430 NP_001421 Q99814 EPAS1_HUMAN endothelial PAS domain protein 1 667 angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia transcription factor complex histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding ovary(1)|skin(1) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) LUSC - Lung squamous cell carcinoma(58;0.151) CAGCGCCGTTGGGGCCCCCTG 0.597000 PCBP1 5093 broad.mit.edu 37 2 70315843 70315843 + Missense_Mutation SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr2:70315843C>T uc002sgf.2 + 1 1259 c.968C>T c.(967-969)TCT>TTT p.S323F ASPRV1_uc002sga.2_5'Flank|uc002sgb.1_5'Flank|uc002sgd.2_5'Flank|uc002sge.1_5'Flank NM_006196 NP_006187 Q15365 PCBP1_HUMAN poly(rC) binding protein 1 323 KH 3. nuclear mRNA splicing, via spliceosome cytoplasm|nucleoplasm|ribonucleoprotein complex protein binding|RNA binding|single-stranded DNA binding 0 GAAGGCTCCTCTGGTAGGCAG 0.537000 CNGA3 1261 broad.mit.edu 37 2 99013602 99013602 + Missense_Mutation SNP A A C TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr2:99013602A>C uc002syt.2 + 8 2386 c.1969A>C c.(1969-1971)AAG>CAG p.K657Q CNGA3_uc002syu.2_Missense_Mutation_p.K639Q|CNGA3_uc010fij.2_Missense_Mutation_p.K661Q NM_001298 NP_001289 Q16281 CNGA3_HUMAN cyclic nucleotide gated channel alpha 3 isoform 657 signal transduction|visual perception integral to membrane cGMP binding ovary(5)|upper_aerodigestive_tract(1) 6 CACCCAGATGAAGATGAAGCA 0.587000 TFCP2L1 29842 broad.mit.edu 37 2 122004466 122004466 + Silent SNP C C T rs148066295 byFrequency TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr2:122004466C>T uc002tmx.2 - 6 678 c.585G>A c.(583-585)ACG>ACA p.T195T TFCP2L1_uc010flr.2_Silent_p.T195T NM_014553 NP_055368 Q9NZI6 TF2L1_HUMAN LBP-9 195 female pregnancy|steroid biosynthetic process mitochondrion|nucleolus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity pancreas(2)|ovary(1) 3 Renal(3;0.01) TCTGCTTAAACGTGTCAATCT 0.572000 CNTNAP5 129684 broad.mit.edu 37 2 125367442 125367442 + Silent SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr2:125367442C>T uc002tno.2 + 12 2182 c.1818C>T c.(1816-1818)ATC>ATT p.I606I CNTNAP5_uc010flu.2_Silent_p.I607I NM_130773 NP_570129 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 precursor 606 Extracellular (Potential).|Fibrinogen C-terminal. cell adhesion|signal transduction integral to membrane receptor binding ovary(10) 10 BRCA - Breast invasive adenocarcinoma(221;0.248) TCTTCTACATCGACTCAGATG 0.527000 NCKAP5 344148 broad.mit.edu 37 2 133540568 133540568 + Missense_Mutation SNP T T G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr2:133540568T>G uc002ttp.2 - 14 4190 c.3816A>C c.(3814-3816)AAA>AAC p.K1272N NCKAP5_uc002ttq.2_Intron NM_207363 NP_997246 O14513 NCKP5_HUMAN Nck-associated protein 5 isoform 1 1272 protein binding 0 GGCTGCGGGCTTTGGCGCCAT 0.527000 RPRM 56475 broad.mit.edu 37 2 154335019 154335019 + Missense_Mutation SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr2:154335019C>T uc002tyq.1 - 1 304 c.61G>A c.(61-63)GAG>AAG p.E21K NM_019845 NP_062819 Q9NS64 RPRM_HUMAN reprimo, TP53 dependant G2 arrest mediator 21 cell cycle arrest cytoplasm|integral to membrane protein binding 0 TCCAGCGCCTCGCTGCTGTTG 0.711000 HOXD12 3238 broad.mit.edu 37 2 176964778 176964778 + Silent SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr2:176964778C>T uc010zev.1 + 1 249 c.249C>T c.(247-249)CTC>CTT p.L83L HOXD12_uc010zew.1_Silent_p.L83L NM_021193 NP_067016 P35452 HXD12_HUMAN homeobox D12 83 GPLG -> ASR (in Ref. 1; AAF79044). nuclear chromosome sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678) CCGGGCCTCTCGGCCTGCAGC 0.741000 TTN 7273 broad.mit.edu 37 2 179400781 179400781 + Missense_Mutation SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr2:179400781C>T uc010zfg.1 - 306 93213 c.92989G>A c.(92989-92991)GCC>ACC p.A30997T uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.A24692T|TTN_uc010zfi.1_Missense_Mutation_p.A24625T|TTN_uc010zfj.1_Missense_Mutation_p.A24500T NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 31924 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TAAACTGTGGCATCATCATCT 0.408000 TTN 7273 broad.mit.edu 37 2 179448559 179448559 + Missense_Mutation SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr2:179448559C>T uc010zfg.1 - 261 57870 c.57646G>A c.(57646-57648)GAT>AAT p.D19216N uc002umo.2_RNA|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.D12911N|TTN_uc010zfi.1_Missense_Mutation_p.D12844N|TTN_uc010zfj.1_Missense_Mutation_p.D12719N NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 20143 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTGCCTCCATCATGCTTTGGA 0.453000 TTN 7273 broad.mit.edu 37 2 179482725 179482725 + Missense_Mutation SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr2:179482725C>T uc010zfg.1 - 202 39873 c.39649G>A c.(39649-39651)GAT>AAT p.D13217N TTN_uc010zfh.1_Missense_Mutation_p.D6912N|TTN_uc010zfi.1_Missense_Mutation_p.D6845N|TTN_uc010zfj.1_Missense_Mutation_p.D6720N NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 14144 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GCACCTCCATCATACTCTGGT 0.463000 TTN 7273 broad.mit.edu 37 2 179585215 179585215 + Missense_Mutation SNP A A C TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr2:179585215A>C uc010zfg.1 - 77 19766 c.19542T>G c.(19540-19542)AGT>AGG p.S6514R TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S3175R NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 7441 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GGATATGAAGACTTGTATCAA 0.398000 TTN 7273 broad.mit.edu 37 2 179647007 179647007 + Missense_Mutation SNP T T A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr2:179647007T>A uc010zfg.1 - 20 3536 c.3312A>T c.(3310-3312)CAA>CAT p.Q1104H TTN_uc010zfh.1_Missense_Mutation_p.Q1058H|TTN_uc010zfi.1_Missense_Mutation_p.Q1058H|TTN_uc010zfj.1_Missense_Mutation_p.Q1058H|TTN_uc002unb.2_Missense_Mutation_p.Q1104H NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 1104 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TGCCGCCAACTTGGCATCCAA 0.488000 ALS2CR8 79800 broad.mit.edu 37 2 203839206 203839206 + Missense_Mutation SNP T T A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr2:203839206T>A uc002uzo.2 + 12 1761 c.1481T>A c.(1480-1482)ATT>AAT p.I494N ALS2CR8_uc010ftu.1_RNA|ALS2CR8_uc010zia.1_Missense_Mutation_p.I418N|ALS2CR8_uc010zib.1_Missense_Mutation_p.I418N|ALS2CR8_uc010zic.1_Missense_Mutation_p.I406N|ALS2CR8_uc002uzp.2_Missense_Mutation_p.I494N NM_001104586 NP_001098056 Q8N187 AL2S8_HUMAN amyotrophic lateral sclerosis 2 (juvenile) 494 large_intestine(1)|ovary(1) 2 AACTCAGAGATTATTCCAGCA 0.318000 ZDBF2 57683 broad.mit.edu 37 2 207171081 207171081 + Missense_Mutation SNP T T C TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr2:207171081T>C uc002vbp.2 + 5 2079 c.1829T>C c.(1828-1830)GTC>GCC p.V610A NM_020923 NP_065974 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 610 nucleic acid binding|zinc ion binding ovary(3) 3 GGTAGACAAGTCCACCTAAAA 0.418000 CRYGA 1418 broad.mit.edu 37 2 209027988 209027988 + Silent SNP G G A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr2:209027988G>A uc002vcq.3 - 2 209 c.192C>T c.(190-192)CCC>CCT p.P64P NM_014617 NP_055432 P11844 CRGA_HUMAN crystallin, gamma A 64 Beta/gamma crystallin 'Greek key' 2. visual perception structural constituent of eye lens 0 Epithelial(149;0.067)|LUSC - Lung squamous cell carcinoma(261;0.0708)|Lung(261;0.135) GCTGATAGTCGGGGTACTTGC 0.547000 ERBB4 2066 broad.mit.edu 37 2 212251872 212251872 + Missense_Mutation SNP G G T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr2:212251872G>T uc002veg.1 - 27 3285 c.3187C>A c.(3187-3189)CAG>AAG p.Q1063K ERBB4_uc002veh.1_Missense_Mutation_p.Q1047K|ERBB4_uc010zji.1_Missense_Mutation_p.Q1053K|ERBB4_uc010zjj.1_Missense_Mutation_p.Q1037K NM_005235 NP_005226 Q15303 ERBB4_HUMAN v-erb-a erythroblastic leukemia viral oncogene 1063 Cytoplasmic (Potential). cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 33 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) TATACAAACTGGTTCTGTTAA 0.428000 TSP Lung(8;0.080) ABCA12 26154 broad.mit.edu 37 2 215812212 215812212 + Silent SNP A A G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr2:215812212A>G uc002vew.2 - 48 7393 c.7173T>C c.(7171-7173)AGT>AGC p.S2391S ABCA12_uc002vev.2_Silent_p.S2073S|ABCA12_uc010zjn.1_Silent_p.S1318S NM_173076 NP_775099 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A, member 12 2391 ABC transporter 2. cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1) 11 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) TTGTGCCATAACTGCACATAG 0.433000 ZNF142 7701 broad.mit.edu 37 2 219508077 219508077 + Silent SNP G G A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr2:219508077G>A uc002vin.2 - 8 3598 c.3162C>T c.(3160-3162)GGC>GGT p.G1054G ZNF142_uc002vil.2_Silent_p.G1015G|ZNF142_uc010fvt.2_Silent_p.G891G|ZNF142_uc002vim.2_Silent_p.G891G NM_001105537 NP_001099007 P52746 ZN142_HUMAN zinc finger protein 142 1054 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|ovary(1)|skin(1) 4 Renal(207;0.0474) Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) TTCCTCCCCCGCCACGTCCCC 0.602000 GLB1L 79411 broad.mit.edu 37 2 220101991 220101991 + Missense_Mutation SNP T T C TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr2:220101991T>C uc002vkm.2 - 17 2007 c.1768A>G c.(1768-1770)AGA>GGA p.R590G GLB1L_uc002vkk.2_Missense_Mutation_p.R347G|GLB1L_uc010zkx.1_Missense_Mutation_p.R500G|GLB1L_uc002vkn.2_Missense_Mutation_p.R590G NM_024506 NP_078782 Q6UWU2 GLB1L_HUMAN galactosidase, beta 1-like precursor 590 carbohydrate metabolic process extracellular region cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds 0 all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559) Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AGCAGGAATCTTGGCACGTAG 0.502000 BMP2 650 broad.mit.edu 37 20 6759323 6759323 + Missense_Mutation SNP A A G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr20:6759323A>G uc002wmu.1 + 3 1563 c.778A>G c.(778-780)ATA>GTA p.I260V NM_001200 NP_001191 P12643 BMP2_HUMAN bone morphogenetic protein 2 preproprotein 260 BMP signaling pathway involved in heart induction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction extracellular space activin receptor activity, type II|BMP receptor binding|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|SMAD binding|transforming growth factor beta receptor binding ovary(1)|breast(1) 2 Simvastatin(DB00641) CTGGTCACAGATAAGGCCATT 0.473000 NCOA6 23054 broad.mit.edu 37 20 33345129 33345129 + Silent SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr20:33345129C>T uc002xav.2 - 8 3993 c.1422G>A c.(1420-1422)CCG>CCA p.P474P NCOA6_uc002xaw.2_Silent_p.P474P|NCOA6_uc010gew.1_Silent_p.P431P NM_014071 NP_054790 Q14686 NCOA6_HUMAN nuclear receptor coactivator 6 474 TBP/GTF2A-binding region.|NCOA1-binding region.|Gln-rich.|CREBBP-binding region. brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter transcription factor complex chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding ovary(3)|breast(3)|central_nervous_system(1) 7 GATTCCGACCCGGAGAGCTGA 0.542000 PHACTR3 116154 broad.mit.edu 37 20 58411587 58411587 + Missense_Mutation SNP A A C TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr20:58411587A>C uc002yau.2 + 9 1823 c.1356A>C c.(1354-1356)GAA>GAC p.E452D PHACTR3_uc002yat.2_Missense_Mutation_p.E449D|PHACTR3_uc010zzw.1_Missense_Mutation_p.E411D|PHACTR3_uc002yav.2_Missense_Mutation_p.E411D|PHACTR3_uc002yaw.2_Missense_Mutation_p.E411D|PHACTR3_uc002yax.2_Missense_Mutation_p.E341D|PHACTR3_uc002yay.2_Missense_Mutation_p.E21D NM_080672 NP_542403 Q96KR7 PHAR3_HUMAN phosphatase and actin regulator 3 isoform 1 452 RPEL 3.|Required for PP1CA binding and inhibition of PP1 activity.|Potential. nuclear matrix actin binding|protein phosphatase inhibitor activity ovary(2)|pancreas(1) 3 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;2.76e-09) CTGCCGTGGAAGAGCTGGAGA 0.488000 BHLHE23 128408 broad.mit.edu 37 20 61637712 61637712 + Missense_Mutation SNP G G T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr20:61637712G>T uc002yeb.2 - 1 676 c.367C>A c.(367-369)CTG>ATG p.L123M NM_080606 NP_542173 Q8NDY6 BHE23_HUMAN basic helix-loop-helix domain containing, class 123 Helix-loop-helix motif. transcription, DNA-dependent nucleus DNA binding 0 ACGGCTCGCAGCCCGTCCAGC 0.418000 SFRS15 57466 broad.mit.edu 37 21 33043943 33043943 + Silent SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr21:33043943C>T uc002ypd.2 - 20 3639 c.3213G>A c.(3211-3213)GAG>GAA p.E1071E SFRS15_uc002ype.2_Silent_p.E1049E|SFRS15_uc010glu.2_Silent_p.E1056E NM_020706 NP_065757 O95104 SFR15_HUMAN splicing factor, arginine/serine-rich 15 isoform 1071 nucleus nucleotide binding|RNA binding 0 CTTCTTCCTTCTCTCTACGAG 0.502000 SFRS15 57466 broad.mit.edu 37 21 33044004 33044004 + Missense_Mutation SNP C C G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr21:33044004C>G uc002ypd.2 - 20 3578 c.3152G>C c.(3151-3153)AGA>ACA p.R1051T SFRS15_uc002ype.2_Missense_Mutation_p.R1029T|SFRS15_uc010glu.2_Missense_Mutation_p.R1036T NM_020706 NP_065757 O95104 SFR15_HUMAN splicing factor, arginine/serine-rich 15 isoform 1051 nucleus nucleotide binding|RNA binding 0 ACTAGAGCGTCTATTTCTCTC 0.498000 SFRS15 57466 broad.mit.edu 37 21 33044064 33044064 + Missense_Mutation SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr21:33044064C>T uc002ypd.2 - 20 3518 c.3092G>A c.(3091-3093)AGA>AAA p.R1031K SFRS15_uc002ype.2_Missense_Mutation_p.R1009K|SFRS15_uc010glu.2_Missense_Mutation_p.R1016K NM_020706 NP_065757 O95104 SFR15_HUMAN splicing factor, arginine/serine-rich 15 isoform 1031 nucleus nucleotide binding|RNA binding 0 TCCCCACTCTCTCCTGTCACG 0.483000 SFRS15 57466 broad.mit.edu 37 21 33044066 33044066 + Silent SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr21:33044066C>T uc002ypd.2 - 20 3516 c.3090G>A c.(3088-3090)AGG>AGA p.R1030R SFRS15_uc002ype.2_Silent_p.R1008R|SFRS15_uc010glu.2_Silent_p.R1015R NM_020706 NP_065757 O95104 SFR15_HUMAN splicing factor, arginine/serine-rich 15 isoform 1030 nucleus nucleotide binding|RNA binding 0 CCCACTCTCTCCTGTCACGGT 0.478000 SFRS15 57466 broad.mit.edu 37 21 33076187 33076187 + Missense_Mutation SNP C C A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr21:33076187C>A uc002ypd.2 - 4 638 c.212G>T c.(211-213)CGA>CTA p.R71L SFRS15_uc002ype.2_Missense_Mutation_p.R71L|SFRS15_uc010glu.2_Missense_Mutation_p.R56L|SFRS15_uc002ypf.1_5'Flank|SFRS15_uc002ypg.2_Missense_Mutation_p.R71L NM_020706 NP_065757 O95104 SFR15_HUMAN splicing factor, arginine/serine-rich 15 isoform 71 CID. nucleus nucleotide binding|RNA binding 0 ACGAGACTGTCGCACAATTGA 0.358000 ERG 2078 broad.mit.edu 37 21 39755334 39755334 + Silent SNP A A C TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr21:39755334A>C uc010gnw.2 - 12 1747 c.1452T>G c.(1450-1452)ACT>ACG p.T484T ERG_uc002yxa.2_Silent_p.T477T|ERG_uc011aek.1_Silent_p.T385T|ERG_uc010gnv.2_Silent_p.T361T|ERG_uc010gnx.2_Silent_p.T460T|ERG_uc011ael.1_Silent_p.T484T|ERG_uc002yxb.2_Silent_p.T460T NM_001136155 NP_001129627 P11308 ERG_HUMAN ets-related isoform 4 484 cell proliferation|multicellular organismal development|protein phosphorylation cytoplasm|nucleus|ribonucleoprotein complex protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity TMPRSS2/ERG(2499)|FUS/ERG(163)|EWSR1/ERG(162) prostate(2499)|bone(167)|haematopoietic_and_lymphoid_tissue(153)|soft_tissue(5)|lung(2)|skin(1)|ovary(1) 2828 Prostate(19;3.6e-06) TTTAGTAGTAAGTGCCCAGAT 0.502000 LRRC3 81543 broad.mit.edu 37 21 45876639 45876639 + Missense_Mutation SNP C C T rs142928276 TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr21:45876639C>T uc002zfa.2 + 2 405 c.112C>T c.(112-114)CGG>TGG p.R38W NM_030891 NP_112153 Q9BY71 LRRC3_HUMAN leucine-rich repeat-containing 3 precursor 38 LRRNT. integral to membrane protein binding 0 Breast(209;0.00908) COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195) ACAGCCCTGCCGGTGCCCTGA 0.692000 ZNF70 7621 broad.mit.edu 37 22 24086106 24086106 + Missense_Mutation SNP C C T rs143352353 TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr22:24086106C>T uc002zxs.2 - 2 1683 c.1222G>A c.(1222-1224)GAG>AAG p.E408K ZNF70_uc002zxr.1_5'Flank NM_021916 NP_068735 Q9UC06 ZNF70_HUMAN zinc finger protein 70 408 C2H2-type 10. nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 TTATAGTGCTCAATGAGGGCT 0.577000 MIOX 55586 broad.mit.edu 37 22 50926149 50926149 + Missense_Mutation SNP C C G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr22:50926149C>G uc003bll.1 + 3 269 c.155C>G c.(154-156)ACA>AGA p.T52R MIOX_uc003blm.1_Missense_Mutation_p.T52R|MIOX_uc003bln.1_Missense_Mutation_p.T52R NM_017584 NP_060054 Q9UGB7 MIOX_HUMAN myo-inositol oxygenase 52 inositol catabolic process cytoplasm|inclusion body aldo-keto reductase (NADP) activity|ferric iron binding|inositol oxygenase activity 0 all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) ACGCACCAGACAGTGGACTTC 0.667000 EFHB 151651 broad.mit.edu 37 3 19974753 19974753 + Missense_Mutation SNP T T C TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr3:19974753T>C uc003cbl.3 - 1 954 c.758A>G c.(757-759)AAG>AGG p.K253R EFHB_uc003cbm.2_Missense_Mutation_p.K123R NM_144715 NP_653316 Q8N7U6 EFHB_HUMAN EF hand domain family, member B 253 signal transduction proteinaceous extracellular matrix calcium ion binding 0 ATCAAAAAACTTCCCAGAGTA 0.428000 SCN5A 6331 broad.mit.edu 37 3 38648286 38648286 + Silent SNP G G A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr3:38648286G>A uc003cio.2 - 9 1208 c.1014C>T c.(1012-1014)GGC>GGT p.G338G SCN5A_uc003cin.2_Silent_p.G338G|SCN5A_uc003cil.3_Silent_p.G338G|SCN5A_uc010hhi.2_Silent_p.G338G|SCN5A_uc010hhk.2_Silent_p.G338G|SCN5A_uc011ayr.1_Silent_p.G338G|SCN5A_uc010hhj.1_5'Flank NM_198056 NP_932173 Q14524 SCN5A_HUMAN voltage-gated sodium channel type V alpha 338 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity ovary(4)|pancreas(2)|skin(2)|central_nervous_system(1) 9 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) GGCACCGGTAGCCCTCCGGAC 0.607000 SCN10A 6336 broad.mit.edu 37 3 38755486 38755486 + Missense_Mutation SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr3:38755486C>T uc003ciq.2 - 21 3767 c.3767G>A c.(3766-3768)CGG>CAG p.R1256Q NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha 1256 III.|Helical; Voltage-sensor; Name=S4 of repeat III; (Potential). sensory perception voltage-gated sodium channel complex ovary(5)|skin(3)|large_intestine(1)|kidney(1) 10 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) CCGCAGTGGCCGCAGAGCGCG 0.423000 SCN11A 11280 broad.mit.edu 37 3 38888666 38888666 + Missense_Mutation SNP T T G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr3:38888666T>G uc011ays.1 - 26 5094 c.4895A>C c.(4894-4896)AAG>ACG p.K1632T NM_014139 NP_054858 Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha 1632 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity skin(6)|ovary(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1) 9 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) TGGGTCAAACTTTTCCCACAC 0.398000 NCKIPSD 51517 broad.mit.edu 37 3 48717103 48717103 + Missense_Mutation SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr3:48717103C>T uc003cun.2 - 8 1488 c.1394G>A c.(1393-1395)GGC>GAC p.G465D NCKIPSD_uc003cum.2_Missense_Mutation_p.G458D NM_016453 NP_057537 Q9NZQ3 SPN90_HUMAN NCK interacting protein with SH3 domain isoform 465 Leu-rich. cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction intermediate filament|nucleus cytoskeletal protein binding|SH3 domain binding 0 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) GCACATGGCGCCAAAGCACTT 0.607000 GMPPB 29925 broad.mit.edu 37 3 49760467 49760467 + Missense_Mutation SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr3:49760467C>T uc003cxk.1 - 4 565 c.340G>A c.(340-342)GAT>AAT p.D114N GMPPB_uc003cxl.1_Missense_Mutation_p.D114N NM_021971 NP_068806 Q9Y5P6 GMPPB_HUMAN GDP-mannose pyrophosphorylase B isoform 2 114 dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine GTP binding|mannose-1-phosphate guanylyltransferase activity 0 BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) AAGGGGAAATCGCAGATCACG 0.607000 CACNA2D3 55799 broad.mit.edu 37 3 55038828 55038828 + Missense_Mutation SNP A A C TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr3:55038828A>C uc003dhf.2 + 32 2777 c.2729A>C c.(2728-2730)AAC>ACC p.N910T CACNA2D3_uc003dhg.1_Missense_Mutation_p.N816T|CACNA2D3_uc003dhh.1_RNA NM_018398 NP_060868 Q8IZS8 CA2D3_HUMAN calcium channel, voltage-dependent, alpha 910 Extracellular (Potential). integral to membrane calcium channel activity|metal ion binding|voltage-gated ion channel activity large_intestine(3)|ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 7 KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327) TGTAGAGCCAACAAGGAAAGC 0.463000 EPHA3 2042 broad.mit.edu 37 3 89499325 89499325 + Splice_Site SNP A A T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr3:89499325A>T uc003dqy.2 + 15 2722 c.2497_splice c.e15-2 p.V833_splice EPHA3_uc010hon.1_Splice_Site NM_005233 NP_005224 P29320 EPHA3_HUMAN ephrin receptor EphA3 isoform a precursor extracellular region|integral to plasma membrane ATP binding lung(17)|ovary(7)|large_intestine(4)|central_nervous_system(2)|stomach(1)|skin(1)|pancreas(1) 33 all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612) Lung NSC(201;0.0782) LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942) CTTCTCACACAGGTAATTAAA 0.478000 TSP Lung(6;0.00050) OR5AC2 81050 broad.mit.edu 37 3 97806056 97806056 + Missense_Mutation SNP T T C TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr3:97806056T>C uc011bgs.1 + 1 40 c.40T>C c.(40-42)TTT>CTT p.F14L NM_054106 NP_473447 Q9NZP5 O5AC2_HUMAN olfactory receptor, family 5, subfamily AC, 14 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 TGTGACAGAGTTTGTTCTCAC 0.418000 COL8A1 1295 broad.mit.edu 37 3 99513455 99513455 + Missense_Mutation SNP G G T rs147906655 byFrequency TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr3:99513455G>T uc003dtg.1 + 5 955 c.710G>T c.(709-711)CGG>CTG p.R237L COL8A1_uc003dth.1_Missense_Mutation_p.R237L|COL8A1_uc003dti.1_Missense_Mutation_p.R238L NM_001850 NP_001841 P27658 CO8A1_HUMAN alpha 1 type VIII collagen precursor 237 Triple-helical region (COL1). angiogenesis|cell adhesion basement membrane|collagen type VIII 0 CAAGGCCTTCGGGGTCCTAAA 0.632000 PARP9 83666 broad.mit.edu 37 3 122274887 122274887 + Missense_Mutation SNP C C A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr3:122274887C>A uc010hri.2 - 4 381 c.236G>T c.(235-237)CGT>CTT p.R79L PARP9_uc003eff.3_Missense_Mutation_p.R44L|PARP9_uc011bjs.1_Missense_Mutation_p.R44L|PARP9_uc003efg.2_Intron|PARP9_uc003efi.2_Missense_Mutation_p.R44L|PARP9_uc003efh.2_Missense_Mutation_p.R79L|PARP9_uc003efj.2_Missense_Mutation_p.R44L NM_001146102 NP_001139574 Q8IXQ6 PARP9_HUMAN poly (ADP-ribose) polymerase family, member 9 79 cell migration cytosol|nucleus NAD+ ADP-ribosyltransferase activity|protein binding ovary(1)|pancreas(1)|prostate(1)|skin(1) 4 GBM - Glioblastoma multiforme(114;0.0519) ACACAGCTGACGCTCATTATT 0.403000 C3orf27 23434 broad.mit.edu 37 3 128292250 128292250 + Missense_Mutation SNP C C A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr3:128292250C>A uc003ekq.2 - 3 1290 c.323G>T c.(322-324)GGG>GTG p.G108V NM_007354 NP_031380 O15544 GR6_HUMAN putative GR6 protein 108 0 GBM - Glioblastoma multiforme(114;0.176) GAGGAAAGGCCCACAGTGGCA 0.567000 RBP2 5948 broad.mit.edu 37 3 139173592 139173592 + Missense_Mutation SNP A A C TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr3:139173592A>C uc003eth.2 - 3 384 c.333T>G c.(331-333)ATT>ATG p.I111M NM_004164 NP_004155 P50120 RET2_HUMAN retinol binding protein 2, cellular 111 epidermis development|retinoid metabolic process|steroid metabolic process|vitamin A metabolic process cytosol retinal binding|retinol binding|transporter activity skin(1) 1 Vitamin A(DB00162) TGTCCCCCTCAATCCACTGCT 0.532000 ZBBX 79740 broad.mit.edu 37 3 167023666 167023666 + Missense_Mutation SNP T T C TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr3:167023666T>C uc003fep.2 - 17 1813 c.1490A>G c.(1489-1491)GAG>GGG p.E497G ZBBX_uc011bpc.1_Missense_Mutation_p.E497G|ZBBX_uc003feq.2_Missense_Mutation_p.E468G NM_024687 NP_078963 A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing 497 intracellular zinc ion binding ovary(2) 2 GGTGCTTTCCTCAATTTTTTC 0.338000 C3orf70 285382 broad.mit.edu 37 3 184801262 184801262 + Missense_Mutation SNP G G T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr3:184801262G>T uc003fpd.2 - 2 477 c.286C>A c.(286-288)CAG>AAG p.Q96K NM_001025266 NP_001020437 A6NLC5 CC070_HUMAN hypothetical protein LOC285382 96 0 ACTGAGATCTGAATGGTGTTT 0.502000 SENP2 59343 broad.mit.edu 37 3 185324165 185324165 + Missense_Mutation SNP G G A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr3:185324165G>A uc003fpn.2 + 6 668 c.497G>A c.(496-498)CGC>CAC p.R166H SENP2_uc011brv.1_Missense_Mutation_p.R156H|SENP2_uc011brw.1_5'UTR NM_021627 NP_067640 Q9HC62 SENP2_HUMAN SUMO1/sentrin/SMT3 specific protease 2 166 mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport|Wnt receptor signaling pathway cytoplasm|nuclear membrane|nuclear pore protein binding|SUMO-specific protease activity 0 all_cancers(143;1.28e-10)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(80;1.31e-21) GGTGGCCGTCGCCATAGCAAA 0.423000 UBXN7 26043 broad.mit.edu 37 3 196129884 196129884 + Missense_Mutation SNP T T G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr3:196129884T>G uc003fwm.3 - 3 303 c.228A>C c.(226-228)GAA>GAC p.E76D UBXN7_uc003fwn.3_5'UTR|UBXN7_uc010iae.2_Intron|UBXN7_uc010iaf.2_Missense_Mutation_p.E76D NM_015562 NP_056377 O94888 UBXN7_HUMAN UBX domain containing 7 76 protein binding ovary(2)|pancreas(1) 3 GGGCACGAACTTCTTCTCTAT 0.323000 GABRB1 2560 broad.mit.edu 37 4 47427934 47427934 + Missense_Mutation SNP G G A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr4:47427934G>A uc003gxh.2 + 9 1698 c.1324G>A c.(1324-1326)GAC>AAC p.D442N GABRB1_uc011bze.1_Missense_Mutation_p.D372N NM_000812 NP_000803 P18505 GBRB1_HUMAN gamma-aminobutyric acid (GABA) A receptor, beta 442 Cytoplasmic (Probable). synaptic transmission cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2) 2 Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683) CAAGATCCCCGACTTGACTGA 0.557000 KDR 3791 broad.mit.edu 37 4 55972029 55972029 + Missense_Mutation SNP C C T rs55716939 byFrequency TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr4:55972029C>T uc003has.2 - 12 1917 c.1615G>A c.(1615-1617)GGA>AGA p.G539R KDR_uc003hat.1_Missense_Mutation_p.G539R|KDR_uc011bzx.1_Missense_Mutation_p.G539R NM_002253 NP_002244 P35968 VGFR2_HUMAN kinase insert domain receptor precursor 539 Ig-like C2-type 5.|Extracellular (Potential). angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity lung(16)|soft_tissue(4)|central_nervous_system(4)|large_intestine(2)|stomach(2)|skin(2)|ovary(2)|kidney(1) 33 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) ACCCTCTCTCCTCTCCCGACT 0.473000 Mis NSCLC|angiosarcoma Familial_Infantile_Hemangioma TSP Lung(20;0.16) DMP1 1758 broad.mit.edu 37 4 88583780 88583780 + Missense_Mutation SNP G G A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr4:88583780G>A uc003hqv.2 + 6 954 c.850G>A c.(850-852)GAC>AAC p.D284N DMP1_uc003hqw.2_Missense_Mutation_p.D268N NM_004407 NP_004398 Q13316 DMP1_HUMAN dentin matrix acidic phosphoprotein 1 isoform 1 284 biomineral tissue development|ossification cytoplasm|nucleus|proteinaceous extracellular matrix calcium ion binding|integrin binding pancreas(1)|skin(1) 2 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227) OV - Ovarian serous cystadenocarcinoma(123;0.000516) CGAGCTTGATGACAACAACAC 0.488000 SCLT1 132320 broad.mit.edu 37 4 129913355 129913355 + Missense_Mutation SNP C C G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr4:129913355C>G uc003igp.2 - 9 1159 c.653G>C c.(652-654)AGT>ACT p.S218T SCLT1_uc003igo.2_5'UTR|SCLT1_uc003igq.2_Missense_Mutation_p.S218T|SCLT1_uc010iob.1_Intron NM_144643 NP_653244 Q96NL6 SCLT1_HUMAN sodium channel associated protein 1 218 Potential. centrosome ovary(3)|lung(1)|central_nervous_system(1) 5 GATTATCACACTTTGTTCAGT 0.294000 PCDH10 57575 broad.mit.edu 37 4 134073102 134073102 + Missense_Mutation SNP G G A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr4:134073102G>A uc003iha.2 + 1 2633 c.1807G>A c.(1807-1809)GTG>ATG p.V603M uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.V603M NM_032961 NP_116586 Q9P2E7 PCD10_HUMAN protocadherin 10 isoform 1 precursor 603 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(193;0.227) GCTCACCCGCGTGGCCGCCGT 0.692000 DCHS2 54798 broad.mit.edu 37 4 155237128 155237128 + Missense_Mutation SNP T T C TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr4:155237128T>C uc003inw.2 - 15 3667 c.3667A>G c.(3667-3669)ACA>GCA p.T1223A NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN dachsous 2 isoform 1 1223 Cadherin 10. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|pancreas(1) 4 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) GGACAGGTTGTGGTTAGTAAG 0.383000 LRAT 9227 broad.mit.edu 37 4 155665550 155665550 + Silent SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr4:155665550C>T uc003iom.1 + 1 399 c.72C>T c.(70-72)CTC>CTT p.L24L uc003iol.2_Intron|LRAT_uc003ion.1_Silent_p.L24L NM_004744 NP_004735 O95237 LRAT_HUMAN lecithin retinol acyltransferase 24 Cytoplasmic (By similarity). response to stimulus|retinoid metabolic process|steroid metabolic process|visual perception endoplasmic reticulum membrane|integral to membrane|multivesicular body|perinuclear region of cytoplasm|rough endoplasmic reticulum phosphatidylcholine-retinol O-acyltransferase activity central_nervous_system(1) 1 all_hematologic(180;0.215) Renal(120;0.0458) Vitamin A(DB00162) ACTTCACGCTCTTTAGTTCGG 0.577000 SLC12A7 10723 broad.mit.edu 37 5 1052500 1052500 + Missense_Mutation SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr5:1052500C>T uc003jbu.2 - 24 3293 c.3227G>A c.(3226-3228)CGG>CAG p.R1076Q NM_006598 NP_006589 Q9Y666 S12A7_HUMAN solute carrier family 12 (potassium/chloride 1076 Cytoplasmic (Potential). potassium ion transport|sodium ion transport integral to plasma membrane potassium:chloride symporter activity skin(2)|large_intestine(1)|ovary(1) 4 Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09) Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165) Potassium Chloride(DB00761) GATCACCTCCCGGCCGCCACC 0.612000 ADAMTS16 170690 broad.mit.edu 37 5 5187859 5187859 + Missense_Mutation SNP G G A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr5:5187859G>A uc003jdl.2 + 6 1123 c.985G>A c.(985-987)GGA>AGA p.G329R ADAMTS16_uc003jdk.1_Missense_Mutation_p.G329R|ADAMTS16_uc003jdj.1_Missense_Mutation_p.G329R NM_139056 NP_620687 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 329 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(3)|lung(2)|large_intestine(1)|breast(1)|pancreas(1) 8 ATTCAAAGATGGAACAATAGG 0.388000 RXFP3 51289 broad.mit.edu 37 5 33938145 33938145 + Missense_Mutation SNP C C A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr5:33938145C>A uc003jic.1 + 1 1657 c.1300C>A c.(1300-1302)CCG>ACG p.P434T NM_016568 NP_057652 Q9NSD7 RL3R1_HUMAN relaxin/insulin-like family peptide receptor 3 434 Cytoplasmic (Potential). integral to plasma membrane N-formyl peptide receptor activity upper_aerodigestive_tract(1) 1 GCTGCAggccccggcgccgcc 0.567000 GZMA 3001 broad.mit.edu 37 5 54405934 54405934 + Missense_Mutation SNP G G A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr5:54405934G>A uc003jpm.2 + 5 750 c.713G>A c.(712-714)CGT>CAT p.R238H NM_006144 NP_006135 P12544 GRAA_HUMAN granzyme A precursor 238 Peptidase S1. cleavage of lamin|cytolysis|immune response|negative regulation of DNA binding|negative regulation of endodeoxyribonuclease activity|negative regulation of oxidoreductase activity|positive regulation of apoptosis extracellular region|immunological synapse|nucleus protein homodimerization activity|serine-type endopeptidase activity ovary(2)|pancreas(1)|skin(1) 4 Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183) GGAGACCCTCGTGGGCCTGGT 0.448000 IL31RA 133396 broad.mit.edu 37 5 55185823 55185823 + Missense_Mutation SNP G G A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr5:55185823G>A uc003jql.2 + 6 697 c.632G>A c.(631-633)CGT>CAT p.R211H IL31RA_uc003jqk.2_Missense_Mutation_p.R211H|IL31RA_uc011cqj.1_Missense_Mutation_p.R69H|IL31RA_uc003jqm.2_Missense_Mutation_p.R179H|IL31RA_uc003jqn.2_Missense_Mutation_p.R211H|IL31RA_uc010iwa.1_Missense_Mutation_p.R179H|IL31RA_uc003jqo.2_Missense_Mutation_p.R69H NM_139017 NP_620586 Q8NI17 IL31R_HUMAN gp130-like monocyte receptor 179 Extracellular (Potential).|Fibronectin type-III 2. anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway integral to membrane|plasma membrane cytokine receptor activity|protein kinase binding|transcription coactivator activity ovary(1) 1 Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223) GCTAAGAACCGTAAGGATAAA 0.448000 CCDC125 202243 broad.mit.edu 37 5 68578671 68578671 + Missense_Mutation SNP C C G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr5:68578671C>G uc003jvv.1 - 11 1464 c.1421G>C c.(1420-1422)AGT>ACT p.S474T CCDC125_uc003jvx.1_3'UTR|CCDC125_uc003jvy.1_RNA|CCDC125_uc003jvw.2_Missense_Mutation_p.S349T NM_176816 NP_789786 Q86Z20 CC125_HUMAN coiled-coil domain containing 125 474 cytoplasm 0 Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183) AATGCAGACACTTGAATGTAT 0.363000 CAMK4 814 broad.mit.edu 37 5 110712611 110712611 + Missense_Mutation SNP A A C TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr5:110712611A>C uc011cvj.1 + 5 456 c.357A>C c.(355-357)GAA>GAC p.E119D CAMK4_uc003kpf.2_Missense_Mutation_p.E119D|CAMK4_uc010jbv.2_Intron NM_001744 NP_001735 Q16566 KCC4_HUMAN calcium/calmodulin-dependent protein kinase IV 119 Protein kinase. activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission cytosol|nucleoplasm ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity ovary(3)|lung(2) 5 all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244) OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109) TGGTCCTAGAACTCGTCACAG 0.343000 FAM170A 340069 broad.mit.edu 37 5 118968544 118968544 + Missense_Mutation SNP T T C TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr5:118968544T>C uc003ksm.2 + 2 382 c.172T>C c.(172-174)TGC>CGC p.C58R FAM170A_uc003ksl.2_Missense_Mutation_p.C58R|FAM170A_uc003ksn.2_Missense_Mutation_p.C58R|FAM170A_uc003kso.2_Intron NM_182761 NP_877438 A1A519 F170A_HUMAN family with sequence similarity 170, member A 58 intracellular zinc ion binding skin(1) 1 CTCCGAATACTGCTCCTGCGT 0.552000 LECT2 3950 broad.mit.edu 37 5 135286988 135286988 + Silent SNP A A G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr5:135286988A>G uc003lbe.1 - 3 414 c.213T>C c.(211-213)ACT>ACC p.T71T FBXL21_uc003lbc.2_RNA NM_002302 NP_002293 O14960 LECT2_HUMAN leukocyte cell-derived chemotaxin 2 precursor 71 chemotaxis|skeletal system development cytoplasm|extracellular space ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) CAATCATTCCAGTGAATGGTG 0.453000 PCDHA1 56147 broad.mit.edu 37 5 140168189 140168189 + Missense_Mutation SNP T T G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr5:140168189T>G uc003lhb.2 + 1 2314 c.2314T>G c.(2314-2316)TTC>GTC p.F772V PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lgz.2_Missense_Mutation_p.F772V NM_018900 NP_061723 Q9Y5I3 PCDA1_HUMAN protocadherin alpha 1 isoform 1 precursor 772 Cytoplasmic (Potential).|5 X 4 AA repeats of P-X-X-P. homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding skin(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCTCATGGCCTTCAGCCCAGG 0.532000 PCDHGA9 56107 broad.mit.edu 37 5 140782734 140782734 + Missense_Mutation SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr5:140782734C>T uc003lkh.1 + 1 215 c.215C>T c.(214-216)ACG>ATG p.T72M PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc011dax.1_Missense_Mutation_p.T72M NM_018921 NP_061744 Q9Y5G4 PCDG9_HUMAN protocadherin gamma subfamily A, 9 isoform 1 72 Cadherin 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGAGGTAGGACGCAGCTTTTC 0.622000 RNF182 221687 broad.mit.edu 37 6 13977616 13977616 + Missense_Mutation SNP T T G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr6:13977616T>G uc003nbe.2 + 3 684 c.266T>G c.(265-267)GTA>GGA p.V89G RNF182_uc003nbf.2_Missense_Mutation_p.V89G|RNF182_uc003nbg.2_Missense_Mutation_p.V89G NM_152737 NP_689950 Q8N6D2 RN182_HUMAN ring finger protein 182 89 cytoplasm|integral to membrane|intracellular membrane-bounded organelle protein binding|ubiquitin-protein ligase activity|zinc ion binding large_intestine(2)|ovary(1) 3 Breast(50;0.00405)|Ovarian(93;0.0964) all_hematologic(90;0.135) Epithelial(50;0.195) AACATCCTTGTAAACTTGACT 0.532000 HIST1H1C 3006 broad.mit.edu 37 6 26056613 26056613 + Missense_Mutation SNP G G A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr6:26056613G>A uc003nfw.2 - 1 87 c.44C>T c.(43-45)GCG>GTG p.A15V NM_005319 NP_005310 P16403 H12_HUMAN histone cluster 1, H1c 15 nucleosome assembly nucleosome|nucleus DNA binding ovary(3)|skin(2) 5 GGCCTTCTCCGCAGGAGGCGC 0.617000 HIST1H1D 3007 broad.mit.edu 37 6 26234947 26234947 + Missense_Mutation SNP T T C TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr6:26234947T>C uc003nhd.2 - 1 270 c.215A>G c.(214-216)TAC>TGC p.Y72C NM_005320 NP_005311 P16402 H13_HUMAN histone cluster 1, H1d 72 H15. nucleosome assembly nucleosome|nucleus DNA binding skin(1) 1 all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167) TTCTACATCGTAGCCAGCAGC 0.552000 GPX6 257202 broad.mit.edu 37 6 28478608 28478608 + Missense_Mutation SNP A A G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr6:28478608A>G uc011dlj.1 - 2 211 c.161T>C c.(160-162)ATC>ACC p.I54T GPX6_uc010jrg.1_RNA NM_182701 NP_874360 P59796 GPX6_HUMAN glutathione peroxidase 6 precursor 54 response to oxidative stress extracellular region glutathione peroxidase activity ovary(3)|pancreas(1)|skin(1) 5 Glutathione(DB00143) CTTGAATTGGATGTACTCCTC 0.478000 HLA-DPA1 3113 broad.mit.edu 37 6 33036858 33036858 + Missense_Mutation SNP T T C TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr6:33036858T>C uc003ocs.1 - 3 597 c.566A>G c.(565-567)GAG>GGG p.E189G HLA-DPA1_uc010juk.2_Missense_Mutation_p.E189G|HLA-DPA1_uc003oct.1_Missense_Mutation_p.E189G NM_033554 NP_291032 P20036 DPA1_HUMAN major histocompatibility complex, class II, DP 189 Alpha-2.|Ig-like C1-type.|Extracellular (Potential). antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex MHC class II receptor activity skin(1) 1 ATAGAAGTCCTCTGCTGAGGG 0.557000 GRIK2 2898 broad.mit.edu 37 6 102307263 102307263 + Silent SNP C C A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr6:102307263C>A uc003pqp.3 + 10 1668 c.1419C>A c.(1417-1419)ATC>ATA p.I473I GRIK2_uc003pqn.2_Silent_p.I473I|GRIK2_uc003pqo.3_Silent_p.I473I|GRIK2_uc010kcw.2_Silent_p.I473I NM_021956 NP_068775 Q13002 GRIK2_HUMAN glutamate receptor, ionotropic, kainate 2 473 Extracellular (Potential). glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity cell junction|postsynaptic membrane extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity ovary(2)|pancreas(1)|breast(1)|skin(1) 5 all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14) all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206) L-Glutamic Acid(DB00142) TATCTACAATCCTTGGCTTTA 0.393000 C6orf58 352999 broad.mit.edu 37 6 127901484 127901484 + Missense_Mutation SNP C C A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr6:127901484C>A uc003qbh.2 + 3 475 c.463C>A c.(463-465)CAA>AAA p.Q155K NM_001010905 NP_001010905 Q6P5S2 CF058_HUMAN hypothetical protein LOC352999 precursor 155 extracellular region 0 GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156) ATCATCAGACCAAGTCAGGCT 0.398000 LAMA2 3908 broad.mit.edu 37 6 129381032 129381032 + Missense_Mutation SNP T T A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr6:129381032T>A uc003qbn.2 + 3 492 c.387T>A c.(385-387)GAT>GAA p.D129E LAMA2_uc003qbo.2_Missense_Mutation_p.D129E NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor 129 Laminin N-terminal. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|breast(1)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) TTACCCTGGATTTACAGCAGG 0.363000 MOXD1 26002 broad.mit.edu 37 6 132618968 132618968 + Silent SNP T T C rs144497399 TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr6:132618968T>C uc003qdf.2 - 11 1734 c.1635A>G c.(1633-1635)CCA>CCG p.P545P MOXD1_uc003qde.2_Silent_p.P477P NM_015529 NP_056344 Q6UVY6 MOXD1_HUMAN monooxygenase, DBH-like 1 isoform 2 545 Lumenal (Potential). catecholamine metabolic process endoplasmic reticulum membrane|integral to membrane copper ion binding|dopamine beta-monooxygenase activity ovary(1) 1 Breast(56;0.0495) OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191) TCACATTCACTGGCAGGCTGA 0.398000 SYNE1 23345 broad.mit.edu 37 6 152469370 152469370 + Silent SNP A A G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr6:152469370A>G uc010kiw.2 - 137 25388 c.24786T>C c.(24784-24786)GCT>GCC p.A8262A SYNE1_uc010kiv.2_Silent_p.A2786A|SYNE1_uc003qos.3_Silent_p.A2786A|SYNE1_uc003qot.3_Silent_p.A8191A|SYNE1_uc003qou.3_Silent_p.A8262A|SYNE1_uc003qop.3_Silent_p.A424A|SYNE1_uc011eez.1_Silent_p.A464A|SYNE1_uc003qoq.3_Silent_p.A464A|SYNE1_uc003qor.3_Silent_p.A1162A NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 8262 Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) GGAGGGGCTGAGCGAGCGAGA 0.632000 HNSCC(10;0.0054) SYNE1 23345 broad.mit.edu 37 6 152671375 152671375 + Silent SNP G G A rs146547806 TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr6:152671375G>A uc010kiw.2 - 72 12431 c.11829C>T c.(11827-11829)GGC>GGT p.G3943G SYNE1_uc003qot.3_Intron|SYNE1_uc003qou.3_Silent_p.G3943G|SYNE1_uc010kja.1_Silent_p.G648G NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 3943 Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CCACCAGTCTGCCAGACATCT 0.542000 HNSCC(10;0.0054) TAGAP 117289 broad.mit.edu 37 6 159462400 159462400 + Missense_Mutation SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr6:159462400C>T uc003qrz.2 - 6 795 c.463G>A c.(463-465)GCT>ACT p.A155T TAGAP_uc011eft.1_Missense_Mutation_p.A92T|TAGAP_uc003qsa.2_5'UTR|TAGAP_uc003qsb.2_Missense_Mutation_p.A155T|uc003qsc.2_5'Flank NM_054114 NP_473455 Q8N103 TAGAP_HUMAN T-cell activation Rho GTPase-activating protein 155 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|guanyl-nucleotide exchange factor activity ovary(1) 1 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06) AAGACCACAGCGAGGAGGTGC 0.552000 C7orf70 84792 broad.mit.edu 37 7 6370607 6370607 + Missense_Mutation SNP G G T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr7:6370607G>T uc003spu.2 - 2 647 c.179C>A c.(178-180)GCA>GAA p.A60E NM_001037163 NP_001032240 Q7Z4H9 SIPAR_HUMAN hypothetical protein LOC84792 60 nucleus 0 CAGTGATAATGCCTCACTTTG 0.507000 ICA1 3382 broad.mit.edu 37 7 8167572 8167572 + Missense_Mutation SNP T T C TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr7:8167572T>C uc003srm.2 - 13 1328 c.1261A>G c.(1261-1263)ACA>GCA p.T421A ICA1_uc010ktr.2_Missense_Mutation_p.T450A|ICA1_uc003srl.2_Missense_Mutation_p.T409A|ICA1_uc003srn.3_Missense_Mutation_p.T347A|ICA1_uc003srp.3_Missense_Mutation_p.T420A|ICA1_uc010kts.2_RNA|ICA1_uc003srq.2_Missense_Mutation_p.T421A|ICA1_uc003srr.2_Missense_Mutation_p.T420A|ICA1_uc003sro.3_Missense_Mutation_p.T421A NM_022307 NP_071682 Q05084 ICA69_HUMAN islet cell autoantigen 1 421 neurotransmitter transport cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane central_nervous_system(1) 1 Ovarian(82;0.0612) UCEC - Uterine corpus endometrioid carcinoma (126;0.246) CCTGAGCCTGTCTGGGCCTTG 0.547000 AOAH 313 broad.mit.edu 37 7 36588291 36588291 + Silent SNP A A G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr7:36588291A>G uc003tfh.3 - 15 1461 c.1060T>C c.(1060-1062)TTG>CTG p.L354L AOAH_uc010kxf.2_Silent_p.L354L|AOAH_uc011kba.1_Silent_p.L322L NM_001637 NP_001628 P28039 AOAH_HUMAN acyloxyacyl hydrolase precursor 354 inflammatory response|lipid metabolic process extracellular region acyloxyacyl hydrolase activity|lipoprotein lipase activity skin(1) 1 TTTCTAGACAAGCTGAGAAGG 0.418000 ELMO1 9844 broad.mit.edu 37 7 37272780 37272780 + Missense_Mutation SNP A A G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr7:37272780A>G uc003tfk.1 - 8 776 c.469T>C c.(469-471)TTC>CTC p.F157L ELMO1_uc011kbc.1_Missense_Mutation_p.F61L|ELMO1_uc010kxg.1_Missense_Mutation_p.F157L NM_014800 NP_055615 Q92556 ELMO1_HUMAN engulfment and cell motility 1 isoform 1 157 actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|plasma membrane SH3 domain binding ovary(3)|skin(2)|upper_aerodigestive_tract(1) 6 GTCAGGGTGAAGGACAGCATG 0.498000 POM121 9883 broad.mit.edu 37 7 72416237 72416237 + Silent SNP T T G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr7:72416237T>G uc010lam.1 + 15 3888 c.2847T>G c.(2845-2847)GTT>GTG p.V949V POM121_uc003twj.2_Silent_p.V949V NM_172020 NP_742017 Q96HA1 P121A_HUMAN nuclear pore membrane protein 121 1214 Pore side (Potential). carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore 0 Lung NSC(55;0.163) TTGTTGGTGTTGCACCTTTCG 0.632000 LIMK1 3984 broad.mit.edu 37 7 73530169 73530169 + Missense_Mutation SNP G G A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr7:73530169G>A uc003uaa.1 + 13 1613 c.1448G>A c.(1447-1449)CGT>CAT p.R483H RFC2_uc011kfa.1_Intron|LIMK1_uc010lbl.1_RNA|LIMK1_uc003uab.2_Missense_Mutation_p.R449H NM_002314 NP_002305 P53667 LIMK1_HUMAN LIM domain kinase 1 483 Protein kinase. actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction cytosol|growth cone|nucleus ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding stomach(2)|ovary(1) 3 Lung NSC(55;0.137) GGGCTGGCGCGTCTCATGGTG 0.627000 MAGI2 9863 broad.mit.edu 37 7 77885499 77885499 + Missense_Mutation SNP A A C TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr7:77885499A>C uc003ugx.2 - 10 2062 c.1808T>G c.(1807-1809)CTT>CGT p.L603R MAGI2_uc003ugy.2_Missense_Mutation_p.L603R|MAGI2_uc010ldx.1_Missense_Mutation_p.L212R|MAGI2_uc010ldy.1_Missense_Mutation_p.L212R|MAGI2_uc011kgr.1_Missense_Mutation_p.L435R|MAGI2_uc011kgs.1_Missense_Mutation_p.L440R NM_012301 NP_036433 Q86UL8 MAGI2_HUMAN membrane associated guanylate kinase, WW and PDZ 603 cell junction|synapse|synaptosome phosphatase binding ovary(5)|lung(4)|breast(1)|skin(1) 11 all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236) TAAGGTCATAAGTTCAGCTTG 0.522000 PPP1R9A 55607 broad.mit.edu 37 7 94539454 94539454 + Missense_Mutation SNP G G A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr7:94539454G>A uc003unp.2 + 2 311 c.29G>A c.(28-30)CGA>CAA p.R10Q PPP1R9A_uc010lfj.2_Missense_Mutation_p.R10Q|PPP1R9A_uc011kif.1_Missense_Mutation_p.R10Q|PPP1R9A_uc003unq.2_Missense_Mutation_p.R10Q|PPP1R9A_uc011kig.1_Missense_Mutation_p.R10Q NM_017650 NP_060120 Q9ULJ8 NEB1_HUMAN protein phosphatase 1, regulatory (inhibitor) 10 Actin-binding. cell junction|synapse|synaptosome actin binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 4 all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09) STAD - Stomach adenocarcinoma(171;0.0031) TCAGGTGAACGAACCACTCTC 0.413000 HNSCC(28;0.073) MUC17 140453 broad.mit.edu 37 7 100683595 100683595 + Missense_Mutation SNP T T G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr7:100683595T>G uc003uxp.1 + 3 8951 c.8898T>G c.(8896-8898)AGT>AGG p.S2966R MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 2966 Extracellular (Potential).|Ser-rich.|48.|59 X approximate tandem repeats. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) CTGAAGCTAGTTCTTCTCCTA 0.517000 MUC17 140453 broad.mit.edu 37 7 100685676 100685676 + Missense_Mutation SNP T T G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr7:100685676T>G uc003uxp.1 + 3 11032 c.10979T>G c.(10978-10980)GTT>GGT p.V3660G MUC17_uc010lho.1_RNA NM_001040105 NP_001035194 Q685J3 MUC17_HUMAN mucin 17 precursor 3660 Extracellular (Potential).|Ser-rich.|59 X approximate tandem repeats.|58. extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity ovary(14)|skin(8)|breast(3)|lung(2) 27 Lung NSC(181;0.136)|all_lung(186;0.182) ACACTTCCTGTTGACACCAGC 0.498000 RELN 5649 broad.mit.edu 37 7 103179704 103179704 + Missense_Mutation SNP T T G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr7:103179704T>G uc003vca.2 - 45 7161 c.7001A>C c.(7000-7002)AAA>ACA p.K2334T RELN_uc010liz.2_Missense_Mutation_p.K2334T NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 2334 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) AAGCAGCCATTTCCTACTATC 0.443000 DOCK4 9732 broad.mit.edu 37 7 111580168 111580168 + Missense_Mutation SNP T T C TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr7:111580168T>C uc003vfx.2 - 11 1243 c.974A>G c.(973-975)TAC>TGC p.Y325C DOCK4_uc003vfy.2_Missense_Mutation_p.Y325C|DOCK4_uc003vga.1_Intron|DOCK4_uc010ljt.1_Missense_Mutation_p.Y325C NM_014705 NP_055520 Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 325 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 ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(1;0.0441) TTCTTACATGTATACTTTCAG 0.502000 FLNC 2318 broad.mit.edu 37 7 128496648 128496648 + Missense_Mutation SNP G G A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr7:128496648G>A uc003vnz.3 + 44 7537 c.7328G>A c.(7327-7329)CGG>CAG p.R2443Q FLNC_uc003voa.3_Missense_Mutation_p.R2410Q NM_001458 NP_001449 Q14315 FLNC_HUMAN gamma filamin isoform a 2443 Filamin 22.|Interaction with INPPL1. cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding breast(5)|large_intestine(3)|ovary(2)|central_nervous_system(1)|skin(1) 12 ATTGATGCCCGGGTGCACACA 0.672000 CLCN1 1180 broad.mit.edu 37 7 143013331 143013331 + Missense_Mutation SNP G G A rs115379077 byFrequency TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr7:143013331G>A uc003wcr.1 + 1 113 c.26G>A c.(25-27)CGT>CAT p.R9H CLCN1_uc011ktc.1_Translation_Start_Site NM_000083 NP_000074 P35523 CLCN1_HUMAN chloride channel 1, skeletal muscle 9 Cytoplasmic (By similarity). muscle contraction chloride channel complex|integral to plasma membrane voltage-gated chloride channel activity ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 5 Melanoma(164;0.205) TCACAGCAGCGTGGGGGTGAA 0.622000 C8orf42 157695 broad.mit.edu 37 8 442692 442692 + Missense_Mutation SNP A A C TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr8:442692A>C uc003wpd.2 - 3 839 c.265T>G c.(265-267)TGG>GGG p.W89G C8orf42_uc011kwg.1_Missense_Mutation_p.W89G NM_175075 NP_778250 Q86YL5 CH042_HUMAN hypothetical protein LOC157695 89 0 Ovarian(12;0.0481)|Colorectal(14;0.0815)|Hepatocellular(245;0.0968)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122) Epithelial(5;5.16e-14)|OV - Ovarian serous cystadenocarcinoma(5;7.35e-07)|BRCA - Breast invasive adenocarcinoma(11;4.17e-06)|COAD - Colon adenocarcinoma(149;0.0255) AAATTGTCCCAAAATCCAGAT 0.393000 CSMD1 64478 broad.mit.edu 37 8 2820743 2820743 + Splice_Site SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr8:2820743C>T uc011kwk.1 - 60 9847 c.9457_splice c.e60+1 p.P3153_splice CSMD1_uc011kwj.1_Splice_Site_p.P2482_splice|CSMD1_uc010lrg.2_Splice_Site_p.P1044_splice NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 precursor integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GTAGAACTTACGGAGACACTG 0.542000 FGFR1 2260 broad.mit.edu 37 8 38275476 38275476 + Silent SNP G G A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr8:38275476G>A uc003xlp.2 - 12 2406 c.1464C>T c.(1462-1464)TGC>TGT p.C488C FGFR1_uc010lwf.2_RNA|FGFR1_uc011lbo.1_Silent_p.C486C|FGFR1_uc011lbp.1_Silent_p.C399C|FGFR1_uc011lbq.1_Silent_p.C397C|FGFR1_uc010lwk.2_Silent_p.C478C NM_023110 NP_075598 P11362 FGFR1_HUMAN fibroblast growth factor receptor 1 isoform 1 488 ATP.|Cytoplasmic (Potential).|Protein kinase. axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development extracellular region|integral to plasma membrane|membrane fraction ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity lung(5)|central_nervous_system(5)|stomach(2)|breast(2)|ovary(1) 15 all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442) Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065) Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24) Palifermin(DB00039) CCTGCCCAAAGCAGCCCTCTC 0.542000 1 T BCR|FOP|ZNF198|CEP1 MPD|NHL Pfeiffer syndrome|Kallman syndrome RGS20 8601 broad.mit.edu 37 8 54791938 54791938 + Missense_Mutation SNP G G A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr8:54791938G>A uc003xrp.2 + 2 378 c.286G>A c.(286-288)GAG>AAG p.E96K RGS20_uc003xrq.2_Intron|RGS20_uc010lye.2_Intron|RGS20_uc010lyf.2_Intron|RGS20_uc003xrr.2_5'Flank|RGS20_uc003xrs.2_5'Flank|RGS20_uc003xrt.2_5'Flank NM_170587 NP_733466 O76081 RGS20_HUMAN regulator of G-protein signaling 20 isoform a 96 negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|nucleus|plasma membrane GTPase activator activity|protein binding|signal transducer activity ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009) ACCCCCTCCCGAGGCTCCCCG 0.726000 XKR9 389668 broad.mit.edu 37 8 71646212 71646212 + Silent SNP C C T rs147423226 byFrequency TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr8:71646212C>T uc003xyq.2 + 5 1209 c.675C>T c.(673-675)TTC>TTT p.F225F XKR9_uc010lze.2_Silent_p.F225F|XKR9_uc010lzd.2_Silent_p.F93F NM_001011720 NP_001011720 Q5GH70 XKR9_HUMAN XK, Kell blood group complex subunit-related 225 Helical; (Potential). integral to membrane ovary(1)|skin(1) 2 Breast(64;0.0716) Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166) TTCTACTATTCTTAAATGTTA 0.294000 TRPA1 8989 broad.mit.edu 37 8 72981358 72981358 + Missense_Mutation SNP T T G rs141011241 byFrequency TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr8:72981358T>G uc003xza.2 - 3 519 c.344A>C c.(343-345)AAG>ACG p.K115T NM_007332 NP_015628 O75762 TRPA1_HUMAN ankyrin-like protein 1 115 Cytoplasmic (Potential).|ANK 2. integral to plasma membrane ovary(4)|lung(1)|kidney(1) 6 Epithelial(68;0.223) Menthol(DB00825) GAGAAGAAACTTAACGCTTTC 0.413000 RIMS2 9699 broad.mit.edu 37 8 104948824 104948824 + Missense_Mutation SNP A A C TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr8:104948824A>C uc003yls.2 + 11 1996 c.1755A>C c.(1753-1755)GAA>GAC p.E585D RIMS2_uc003ylp.2_Missense_Mutation_p.E807D|RIMS2_uc003ylw.2_Missense_Mutation_p.E599D|RIMS2_uc003ylq.2_Missense_Mutation_p.E599D|RIMS2_uc003ylr.2_Missense_Mutation_p.E646D|RIMS2_uc003ylt.2_Missense_Mutation_p.E192D NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 869 C2 1. intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 15 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) AAACATTGGAACCCAAATGGA 0.353000 HNSCC(12;0.0054) TRAPPC9 83696 broad.mit.edu 37 8 141407835 141407835 + Missense_Mutation SNP C C G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr8:141407835C>G uc003yvj.2 - 7 1152 c.1018G>C c.(1018-1020)GCG>CCG p.A340P TRAPPC9_uc003yvh.2_Missense_Mutation_p.A438P|TRAPPC9_uc003yvi.1_Missense_Mutation_p.A331P NM_001160372 NP_001153844 Q96Q05 TPPC9_HUMAN trafficking protein particle complex 9 isoform 340 cell differentiation endoplasmic reticulum|Golgi apparatus skin(2) 2 ATCACTCCCGCATTCTTATAC 0.428000 ZC3H3 23144 broad.mit.edu 37 8 144550422 144550422 + Missense_Mutation SNP G G A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr8:144550422G>A uc003yyd.2 - 8 2161 c.2132C>T c.(2131-2133)ACG>ATG p.T711M NM_015117 NP_055932 Q8IXZ2 ZC3H3_HUMAN zinc finger CCCH-type containing 3 711 C3H1-type 2. mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus nucleus nucleic acid binding|zinc ion binding skin(1) 1 all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107) GGTCCCATCCGTTTTCTTGCA 0.652000 KIAA1432 57589 broad.mit.edu 37 9 5720218 5720218 + Silent SNP T T G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr9:5720218T>G uc003zji.2 + 4 333 c.240T>G c.(238-240)ACT>ACG p.T80T KIAA1432_uc003zjh.2_Silent_p.T80T|KIAA1432_uc003zjl.3_Silent_p.T80T|KIAA1432_uc003zjj.1_5'UTR NM_020829 NP_065880 Q4ADV7 RIC1_HUMAN connexin 43-interacting protein 150 isoform a 159 integral to membrane 0 Acute lymphoblastic leukemia(23;0.154) GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122) TGGTTGCTACTTCTGATGGAC 0.383000 MPDZ 8777 broad.mit.edu 37 9 13126741 13126741 + Missense_Mutation SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr9:13126741C>T uc010mia.1 - 32 4552 c.4495G>A c.(4495-4497)GAA>AAA p.E1499K MPDZ_uc003zky.3_Missense_Mutation_p.E61K|MPDZ_uc010mib.2_Missense_Mutation_p.E204K|MPDZ_uc010mhx.2_Missense_Mutation_p.E321K|MPDZ_uc011lmm.1_Missense_Mutation_p.E358K|MPDZ_uc003zkz.3_Missense_Mutation_p.E192K|MPDZ_uc010mhy.2_Missense_Mutation_p.E1499K|MPDZ_uc010mhz.2_Missense_Mutation_p.E1466K|MPDZ_uc011lmn.1_Missense_Mutation_p.E1466K|MPDZ_uc003zlb.3_Missense_Mutation_p.E1499K NM_003829 NP_003820 O75970 MPDZ_HUMAN multiple PDZ domain protein 1499 PDZ 9. interspecies interaction between organisms apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction protein C-terminus binding ovary(5)|central_nervous_system(1) 6 GBM - Glioblastoma multiforme(50;2.03e-06) GTATCTTCTTCGCTGATAGCA 0.413000 FREM1 158326 broad.mit.edu 37 9 14788940 14788940 + Missense_Mutation SNP A A C TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr9:14788940A>C uc003zlm.2 - 23 4744 c.4154T>G c.(4153-4155)ATC>AGC p.I1385S FREM1_uc010mic.2_Intron NM_144966 NP_659403 Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 precursor 1385 CSPG 10. cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding ovary(2)|breast(2)|pancreas(1) 5 GBM - Glioblastoma multiforme(50;3.53e-06) CTTGATGGTGATTTGACAGTC 0.418000 TOPORS 10210 broad.mit.edu 37 9 32542941 32542941 + Missense_Mutation SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr9:32542941C>T uc003zrb.2 - 3 1749 c.1582G>A c.(1582-1584)GAT>AAT p.D528N TOPORS_uc003zrc.2_Missense_Mutation_p.D461N NM_005802 NP_005793 Q9NS56 TOPRS_HUMAN topoisomerase I binding, arginine/serine-rich 528 Interaction with p53/TP53.|Required for sumoylation and localization to discrete nuclear foci.|Interaction with SUMO1.|Interaction with TOP1. DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent nuclear speck|PML body antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.0018) CTACTAACATCGCTATCACCA 0.388000 ZNF658 26149 broad.mit.edu 37 9 40774112 40774112 + Missense_Mutation SNP T T A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr9:40774112T>A uc004abs.2 - 5 1315 c.1163A>T c.(1162-1164)AAA>ATA p.K388I ZNF658_uc010mmm.1_Missense_Mutation_p.K388I|ZNF658_uc010mmn.1_Missense_Mutation_p.K388I NM_033160 NP_149350 Q5TYW1 ZN658_HUMAN zinc finger protein 658 388 C2H2-type 3; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) TTTTCTGCATTTCCCATGTTC 0.398000 TRPM3 80036 broad.mit.edu 37 9 73233962 73233962 + Missense_Mutation SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr9:73233962C>T uc004aid.2 - 16 2387 c.2143G>A c.(2143-2145)GAC>AAC p.D715N TRPM3_uc004ahu.2_Missense_Mutation_p.D545N|TRPM3_uc004ahv.2_Missense_Mutation_p.D517N|TRPM3_uc004ahw.2_Missense_Mutation_p.D587N|TRPM3_uc004ahx.2_Missense_Mutation_p.D574N|TRPM3_uc004ahy.2_Missense_Mutation_p.D577N|TRPM3_uc004ahz.2_Missense_Mutation_p.D564N|TRPM3_uc004aia.2_Missense_Mutation_p.D562N|TRPM3_uc004aib.2_Missense_Mutation_p.D552N|TRPM3_uc004aic.2_Missense_Mutation_p.D715N NM_001007471 NP_001007472 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, 740 Cytoplasmic (Potential). integral to membrane calcium channel activity ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2) 9 AGCTGTTCGTCCTGCTTGTAG 0.552000 NFIL3 4783 broad.mit.edu 37 9 94172104 94172104 + Missense_Mutation SNP G G C TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr9:94172104G>C uc004arh.2 - 2 1308 c.913C>G c.(913-915)CTC>GTC p.L305V NM_005384 NP_005375 Q16649 NFIL3_HUMAN nuclear factor, interleukin 3 regulated 305 Necessary for transcriptional repression and sufficient for interaction with DR1. circadian rhythm|immune response|transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity 0 ACATGCTTGAGTTCAACTGGA 0.502000 OR13C4 138804 broad.mit.edu 37 9 107288559 107288559 + Missense_Mutation SNP A A G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr9:107288559A>G uc011lvn.1 - 1 932 c.932T>C c.(931-933)CTG>CCG p.L311P NM_001001919 NP_001001919 Q8NGS5 O13C4_HUMAN olfactory receptor, family 13, subfamily C, 311 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 TTTCCTGCTCAGCAAATATTT 0.343000 TNC 3371 broad.mit.edu 37 9 117826111 117826111 + Missense_Mutation SNP A A C TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr9:117826111A>C uc004bjj.3 - 12 4086 c.3724T>G c.(3724-3726)TTC>GTC p.F1242V TNC_uc010mvf.2_Missense_Mutation_p.F1242V NM_002160 NP_002151 P24821 TENA_HUMAN tenascin C precursor 1242 Fibronectin type-III 7. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1) 7 GTTGTGCTGAAGTCCTGAGTG 0.532000 OR1J1 347168 broad.mit.edu 37 9 125239555 125239555 + Silent SNP A A G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr9:125239555A>G uc011lyu.1 - 1 651 c.651T>C c.(649-651)TCT>TCC p.S217S OR1J2_uc004bmj.1_Intron NM_001004451 NP_001004451 Q8NGS3 OR1J1_HUMAN olfactory receptor, family 1, subfamily J, 217 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 TGTGACCATAAGAAACCAGGA 0.488000 LCN2 3934 broad.mit.edu 37 9 130911881 130911881 + Missense_Mutation SNP A A G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr9:130911881A>G uc004bto.1 + 1 150 c.77A>G c.(76-78)GAC>GGC p.D26G LCN2_uc010mxq.1_Missense_Mutation_p.D26G|LCN2_uc011map.1_Missense_Mutation_p.D26G NM_005564 NP_005555 P80188 NGAL_HUMAN lipocalin 2 precursor 26 apoptosis|innate immune response|regulation of apoptosis|siderophore transport iron ion binding|transporter activity 0 TCCACCTCAGACCTGATCCCA 0.647000 KAL1 3730 broad.mit.edu 37 X 8555989 8555989 + Missense_Mutation SNP C C A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chrX:8555989C>A uc004csf.2 - 5 722 c.572G>T c.(571-573)CGA>CTA p.R191L NM_000216 NP_000207 P23352 KALM_HUMAN Kallmann syndrome 1 protein precursor 191 Fibronectin type-III 1. 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 ovary(3)|pancreas(1) 4 TTCTGTAAATCGTAACTCTTT 0.413000 RBBP7 5931 broad.mit.edu 37 X 16876866 16876866 + Silent SNP G G A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chrX:16876866G>A uc004cxt.2 - 4 772 c.414C>T c.(412-414)ATC>ATT p.I138I RBBP7_uc004cxs.1_Silent_p.I182I|RBBP7_uc004cxu.2_Silent_p.I129I|RBBP7_uc010nez.2_Silent_p.I7I NM_002893 NP_002884 Q16576 RBBP7_HUMAN retinoblastoma binding protein 7 138 WD 2. cell proliferation|cellular heat acclimation|CenH3-containing nucleosome assembly at centromere|DNA replication|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex|NuRD complex protein binding upper_aerodigestive_tract(1)|ovary(1) 2 Hepatocellular(33;0.0997) TTGTAGCAATGATGTGAGGAT 0.378000 CCNB3 85417 broad.mit.edu 37 X 50052016 50052016 + Missense_Mutation SNP T T G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chrX:50052016T>G uc004dox.3 + 6 1145 c.847T>G c.(847-849)TTA>GTA p.L283V CCNB3_uc004doy.2_Missense_Mutation_p.L283V|CCNB3_uc004doz.2_Intron|CCNB3_uc010njq.2_Intron NM_033031 NP_149020 Q8WWL7 CCNB3_HUMAN cyclin B3 isoform 3 283 cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle nucleus protein kinase binding ovary(4)|lung(3)|large_intestine(1)|pancreas(1) 9 Ovarian(276;0.236) CACCCATAAGTTATCATCTTT 0.413000 WNK3 65267 broad.mit.edu 37 X 54263946 54263946 + Silent SNP T T G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chrX:54263946T>G uc004dtd.1 - 20 4351 c.3912A>C c.(3910-3912)ACA>ACC p.T1304T WNK3_uc004dtc.1_Silent_p.T1351T NM_001002838 NP_001002838 Q9BYP7 WNK3_HUMAN WNK lysine deficient protein kinase 3 isoform 2 1304 intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation adherens junction|tight junction ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity lung(4)|ovary(3)|kidney(2)|central_nervous_system(2) 11 TTCCAAAAGATGTCATTTTTG 0.373000 PJA1 64219 broad.mit.edu 37 X 68382960 68382960 + Missense_Mutation SNP C C T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chrX:68382960C>T uc004dxh.2 - 2 408 c.122G>A c.(121-123)CGG>CAG p.R41Q PJA1_uc011mpi.1_5'UTR|PJA1_uc004dxg.2_Missense_Mutation_p.R41Q|PJA1_uc004dxi.2_5'UTR NM_145119 NP_660095 Q8NG27 PJA1_HUMAN praja 1 isoform a 41 zinc ion binding 0 AATCCTTTCCCGCTGGCTCGT 0.537000 PHKA1 5255 broad.mit.edu 37 X 71830971 71830971 + Silent SNP G G A rs61732499 byFrequency TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chrX:71830971G>A uc004eax.3 - 22 2734 c.2433C>T c.(2431-2433)ACC>ACT p.T811T PHKA1_uc004eay.3_Silent_p.T811T|PHKA1_uc011mqi.1_Silent_p.T752T NM_002637 NP_002628 P46020 KPB1_HUMAN phosphorylase kinase, alpha 1 (muscle) isoform 811 Calmodulin-binding (Potential). glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity ovary(3)|skin(1) 4 Renal(35;0.156) CATACAGCTCGGTAAGAAGCT 0.433000 SLC16A2 6567 broad.mit.edu 37 X 73745699 73745699 + Missense_Mutation SNP A A T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chrX:73745699A>T uc004ebt.2 + 4 1529 c.1363A>T c.(1363-1365)ATC>TTC p.I455F SLC16A2_uc010nlr.1_Missense_Mutation_p.I130F NM_006517 NP_006508 P36021 MOT8_HUMAN solute carrier family 16, member 2 381 Cytoplasmic (Potential). integral to plasma membrane|membrane fraction monocarboxylic acid transmembrane transporter activity|symporter activity breast(2)|ovary(1) 3 Pyruvic acid(DB00119) CAGTGACTCCATCCCTGGACT 0.527000 ARMCX1 51309 broad.mit.edu 37 X 100808487 100808487 + Missense_Mutation SNP T T G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chrX:100808487T>G uc004ehv.2 + 4 945 c.574T>G c.(574-576)TTC>GTC p.F192V ARMCX1_uc004ehw.2_Missense_Mutation_p.F192V NM_016608 NP_057692 Q9P291 ARMX1_HUMAN armadillo repeat containing, X-linked 1 192 integral to membrane binding ovary(3)|pancreas(1) 4 GAGAGGCAAGTTCAACTTTCC 0.493000 PAK3 5063 broad.mit.edu 37 X 110463599 110463599 + Missense_Mutation SNP A A T TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chrX:110463599A>T uc004epa.2 + 15 1631 c.1604A>T c.(1603-1605)AAA>ATA p.K535I PAK3_uc010npt.1_Missense_Mutation_p.K520I|PAK3_uc010npu.1_Missense_Mutation_p.K520I|PAK3_uc004eoz.2_Missense_Mutation_p.K520I|PAK3_uc011mst.1_RNA|PAK3_uc010npv.1_Missense_Mutation_p.K556I|PAK3_uc010npw.1_Missense_Mutation_p.K541I NM_001128173 NP_001121645 O75914 PAK3_HUMAN p21-activated kinase 3 isoform d 535 multicellular organismal development ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding lung(6)|ovary(3)|large_intestine(1) 10 CCATTTTTAAAATTAGCCAAG 0.408000 TSP Lung(19;0.15) TRPC5 7224 broad.mit.edu 37 X 111020004 111020004 + Missense_Mutation SNP G G A TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chrX:111020004G>A uc004epl.1 - 11 3378 c.2459C>T c.(2458-2460)TCC>TTC p.S820F NM_012471 NP_036603 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, 820 Cytoplasmic (Potential). axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity urinary_tract(1) 1 GGCACCACTGGACCTTGGCAT 0.478000 MAGEA6 4105 broad.mit.edu 37 X 151869966 151869966 + Missense_Mutation SNP A A G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chrX:151869966A>G uc004ffq.1 + 3 850 c.656A>G c.(655-657)GAG>GGG p.E219G MAGEA6_uc004ffr.1_Missense_Mutation_p.E219G|MAGEA2_uc010nto.2_Intron NM_005363 NP_005354 P43360 MAGA6_HUMAN melanoma antigen family A, 6 219 MAGE. protein binding 0 Acute lymphoblastic leukemia(192;6.56e-05) GCCCCTGAGGAGAAAATCTGG 0.522000 WBSCR27 155368 broad.mit.edu 37 7 73254452 73254453 + Splice_Site DEL TG TG - TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr7:73254451_73254452CTG>C uc003tzj.2 - 5 429 c.389_splice c.e5-1 p.G130_splice WBSCR27_uc011kfd.1_Intron NM_152559 NP_689772 Q8N6F8 WBS27_HUMAN Homo sapiens Williams Beuren syndrome chromosome region 27 (WBSCR27), mRNA. 130 NS(1)|central_nervous_system(1)|lung(2)|prostate(1) 5 Lung NSC(55;0.159) TCGAAGGTCCCTGTGTGTGTGT 0.599 TLE2 7089 broad.mit.edu 37 19 3028804 3028805 + Splice_Site INS - - G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr19:3028803_3028804T>TG uc010dth.3 - 2 288 c.25_splice c.e2-1 p.T9_splice TLE2_uc002lww.3_Splice_Site_p.T9_splice|TLE2_uc010xhc.2_Splice_Site|TLE2_uc010dti.3_Splice_Site_p.T22_splice|TLE2_uc010xhd.1_Splice_Site_p.T9_splice NM_003260 NP_003251 Q04725 TLE2_HUMAN Homo sapiens transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila) (TLE2), transcript variant 1, mRNA. 9 Gln-rich. Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent nucleus protein binding|transcription corepressor activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1) 13 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) GAGCGGGGTCTGGGGGGGGTGT 0.624 RUFY3 22902 broad.mit.edu 37 4 71644096 71644098 + In_Frame_Del DEL AAC AAC - TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr4:71644096_71644098delAAC uc003hfq.2 + 8 1430_1432 c.835_837delAAC c.(835-837)AACdel p.N280del RUFY3_uc003hfp.3_In_Frame_Del_p.N340del|RUFY3_uc011cax.1_In_Frame_Del_p.N298del|RUFY3_uc003hfr.2_In_Frame_Del_p.N280del|RUFY3_uc011cay.1_In_Frame_Del_p.N216del NM_014961 NP_055776 Q7L099 RUFY3_HUMAN RUN and FYVE domain containing 3 isoform 2 280 Potential. negative regulation of axonogenesis filopodium|growth cone 0 all_hematologic(202;0.248) Lung(101;0.235) TGCTACTGTAAACAACCTTCAGG 0.315 KIAA2026 158358 broad.mit.edu 37 9 5968162 5968162 + Frame_Shift_Del DEL T T - TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr9:5968162delT uc003zjq.3 - 3 2285 c.2069delA c.(2068-2070)AAGfs p.K690fs NM_001017969 NP_001017969 Q5HYC2 K2026_HUMAN hypothetical protein LOC158358 690 Lys-rich. ovary(2)|central_nervous_system(1) 3 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124) TTTCAATTTCTTTTTTTTCTT 0.333 FAT2 2196 broad.mit.edu 37 5 150946485 150946486 + Frame_Shift_Del DEL AT AT - TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr5:150946484_150946485CAT>C uc003lue.4 - 0 2021_2022 c.2008_2009ATG>G c.(2008-2010)tgtfs p.C670fs FAT2_uc010jhx.1_Frame_Shift_Del_p.C670fs NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA. 670 epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1) 196 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) TGTTTTATCACATGTTACAGGA 0.416 SLC26A7 115111 broad.mit.edu 37 8 92406218 92406219 + Frame_Shift_Ins INS - - T rs149495064 TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr8:92406217_92406218A>AT uc003yez.3 + 17 2124_2125 c.1885_1886A>AT c.(1885-1887)attfs p.I629fs SLC26A7_uc003yex.3_Frame_Shift_Ins_p.I629fs|SLC26A7_uc003yey.3_Non-coding_Transcript|SLC26A7_uc003yfa.3_Frame_Shift_Ins_p.I629fs NM_134266 NP_599028 Q8TE54 S26A7_HUMAN Homo sapiens solute carrier family 26, member 7 (SLC26A7), transcript variant 2, mRNA. 629 STAS. basolateral plasma membrane|integral to membrane|recycling endosome membrane anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 50 BRCA - Breast invasive adenocarcinoma(11;0.00802) AGAGAAACCAATTTTTTTTGAA 0.342 OR52D1 390066 broad.mit.edu 37 11 5509961 5509961 + Frame_Shift_Del DEL A A - TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr11:5509960_5509960TA>T uc010qzg.2 + 0 46 c.24_24TA>T c.(22-24)gatfs p.D8fs HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron NM_001005163 NP_001005163 Q9H346 O52D1_HUMAN Homo sapiens olfactory receptor, family 52, subfamily D, member 1 (OR52D1), mRNA. 8 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 22 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) ACCTCAGTGATAACCATCTTC 0.453 KDM4D 55693 broad.mit.edu 37 11 94730807 94730808 + Frame_Shift_Ins INS - - A rs142280183 by1000genomes TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr11:94730806_94730807T>TA uc021qow.1 + 0 270_271 c.270_271T>TA c.(268-273)cataaafs p.H90fs KDM4D_uc001pfe.3_Frame_Shift_Ins_p.H90fs NM_018039 NP_060509 Q6B0I6 KDM4D_HUMAN Homo sapiens lysine (K)-specific demethylase 4D (KDM4D), mRNA. 90 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 endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 CTCAATACCATAAAAAAAAGAA 0.455 AMIGO2 347902 broad.mit.edu 37 12 47471749 47471749 + Frame_Shift_Del DEL C C - TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr12:47471748_47471748TC>T uc001rpm.3 - 2 1693 c.1038_1038GA>A c.(1036-1038)ggafs p.G346fs FAM113B_uc001rpn.3_5'Flank|AMIGO2_uc001rpk.3_Frame_Shift_Del_p.G346fs|AMIGO2_uc001rpl.3_Frame_Shift_Del_p.G346fs|AMIGO2_uc021qxg.1_Frame_Shift_Del_p.G346fs NM_001143668 NP_862830 Q86SJ2 AMGO2_HUMAN Homo sapiens adhesion molecule with Ig-like domain 2 (AMIGO2), transcript variant 1, mRNA. 346 Ig-like C2-type. heterophilic cell-cell adhesion|homophilic cell adhesion integral to membrane|nucleus|plasma membrane endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Renal(347;0.138)|Lung SC(27;0.192) TAACCAGACTTCCATTGTGAA 0.423 TLE2 7089 broad.mit.edu 37 19 3028804 3028805 + Splice_Site INS - - G TCGA-CD-A48A-01A-12D-A24D-08 TCGA-CD-A48A-10A-01D-A24F-08 Untested Somatic Phase_I WXS none Illumina GAIIx c2f0820b-e38e-48ce-a676-f2cf70c06101 f7e6028e-6fd8-43b1-b881-d923a937ed6c g.chr19:3028803_3028804T>TG uc010dth.3 - 2 288 c.25_splice c.e2-1 p.T9_splice TLE2_uc002lww.3_Splice_Site_p.T9_splice|TLE2_uc010xhc.2_Splice_Site|TLE2_uc010dti.3_Splice_Site_p.T22_splice|TLE2_uc010xhd.1_Splice_Site_p.T9_splice NM_003260 NP_003251 Q04725 TLE2_HUMAN Homo sapiens transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila) (TLE2), transcript variant 1, mRNA. 9 Gln-rich. Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent nucleus protein binding|transcription corepressor activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1) 13 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) GAGCGGGGTCTGGGGGGGGTGT 0.624