Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_position End_position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_file Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut GHSR 2693 broad.mit.edu 37 3 172165640 172165640 + Silent SNP G G A TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr3:172165640G>A ENST00000241256.2 - 1 606 c.564C>T c.(562-564)aaC>aaT p.N188N GHSR_ENST00000427970.1_Silent_p.N188N NM_198407.2 NP_940799.1 Q92847 GHSR_HUMAN growth hormone secretagogue receptor 188 actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 33 Ovarian(172;0.00143)|Breast(254;0.197) Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235) GGTCGGTGCCGTTCTCGTGCT 0.637000 4 165 0 0 1 0 0 CDH23 64072 broad.mit.edu 37 10 73545428 73545428 + Missense_Mutation SNP G G A rs115113440 by1000genomes TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr10:73545428G>A ENST00000224721.6 + 43 5773 c.5768G>A c.(5767-5769)cGg>cAg p.R1923Q NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 1918 Cadherin 18. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 GACCGCGAGCGGATCCCAGAG 0.597000 11 62 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179638079 179638079 + Missense_Mutation SNP C C T TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr2:179638079C>T ENST00000589042.1 - 33 7836 c.7612G>A c.(7612-7614)Ggt>Agt p.G2538S TTN_ENST00000460472.2_Missense_Mutation_p.G2492S|TTN_ENST00000360870.5_Missense_Mutation_p.G2538S|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G2492S|TTN_ENST00000591111.1_Missense_Mutation_p.G2538S|TTN_ENST00000342175.6_Missense_Mutation_p.G2492S|TTN_ENST00000342992.6_Missense_Mutation_p.G2538S NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 2272 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TCACGAAGACCTCTGATAATT 0.353000 52 277 0 0 1 0 0 KCNK15 60598 broad.mit.edu 37 20 43374752 43374752 + Silent SNP C C A TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr20:43374752C>A ENST00000372861.3 + 1 332 c.201C>A c.(199-201)ctC>ctA p.L67L NM_022358.3 NP_071753.2 Q9H427 KCNKF_HUMAN potassium channel, subfamily K, member 15 67 integral to membrane potassium channel activity|voltage-gated ion channel activity NS(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2) 10 Myeloproliferative disorder(115;0.0122) GCCTGGCGCTCCAGGCTGAGC 0.692000 34 86 2.47316e-13 2.66551e-13 1 1 0 PKD1 5310 broad.mit.edu 37 16 2165466 2165466 + Silent SNP C C T TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr16:2165466C>T ENST00000262304.4 - 10 2218 c.2010G>A c.(2008-2010)acG>acA p.T670T PKD1_ENST00000423118.1_Silent_p.T670T NM_001009944.2 NP_001009944.2 P98161 PKD1_HUMAN polycystic kidney disease 1 (autosomal dominant) 670 LDL-receptor class A; atypical. calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway basolateral plasma membrane|integral to plasma membrane protein domain specific binding|sugar binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 CTGGCCCTGACGTGCAGCCAT 0.711000 3 54 0 0 1 0 0 AGAP5 729092 broad.mit.edu 37 10 75451817 75451817 + Missense_Mutation SNP C C A TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr10:75451817C>A ENST00000443782.2 - 3 436 c.311G>T c.(310-312)aGc>aTc p.S104I RP11-464F9.1_ENST00000399449.3_RNA|AGAP5_ENST00000374094.4_Missense_Mutation_p.S127I A6NIR3 AGAP5_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 5 127 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(5)|skin(1) 12 TGTACAGTTGCTTCTTCTTAT 0.274000 6 369 1.06961e-07 1.13391e-07 1 1 0 OR2B11 127623 broad.mit.edu 37 1 247614391 247614391 + Silent SNP A A G TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr1:247614391A>G ENST00000318749.6 - 1 917 c.894T>C c.(892-894)aaT>aaC p.N298N NM_001004492.1 NP_001004492.1 Q5JQS5 OR2BB_HUMAN olfactory receptor, family 2, subfamily B, member 11 298 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 60 all_cancers(71;4.51e-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) all_cancers(173;0.241) OV - Ovarian serous cystadenocarcinoma(106;0.0188) TCATATCTTTATTTCTCAGGG 0.473000 217 1029 0 0 1 0 0 DCP1B 196513 broad.mit.edu 37 12 2062350 2062350 + Missense_Mutation SNP C C G TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr12:2062350C>G ENST00000280665.6 - 7 835 c.756G>C c.(754-756)caG>caC p.Q252H DCP1B_ENST00000540622.1_Missense_Mutation_p.Q126H|DCP1B_ENST00000397173.4_Missense_Mutation_p.Q150H|DCP1B_ENST00000541700.1_5'UTR NM_152640.3 NP_689853.3 Q8IZD4 DCP1B_HUMAN decapping mRNA 1B 252 Poly-Gln. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytosol|nucleus hydrolase activity|protein binding p.Q252H(8) NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1) 24 OV - Ovarian serous cystadenocarcinoma(31;0.00193) gctgctgctgctgGTGGAGAG 0.552000 5 144 0 0 1 0 0 SCRN2 90507 broad.mit.edu 37 17 45916852 45916852 + Silent SNP G G A TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr17:45916852G>A ENST00000407215.3 - 4 595 c.514C>T c.(514-516)Ctg>Ttg p.L172L SCRN2_ENST00000290216.9_Silent_p.L172L|SCRN2_ENST00000584123.1_Silent_p.L180L Q96FV2 SCRN2_HUMAN secernin 2 172 proteolysis dipeptidase activity cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1) 14 GCTGTCTCCAGCACCCACGCC 0.622000 50 299 0 0 1 0 0 MYH10 4628 broad.mit.edu 37 17 8398511 8398511 + Missense_Mutation SNP C C A TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr17:8398511C>A ENST00000360416.3 - 31 4138 c.4000G>T c.(4000-4002)Ggt>Tgt p.G1334C MYH10_ENST00000379980.4_Missense_Mutation_p.G1319C|MYH10_ENST00000269243.4_Missense_Mutation_p.G1303C|MYH10_ENST00000396239.1_Missense_Mutation_p.G1324C NM_001256012.1 NP_001242941.1 P35580 MYH10_HUMAN myosin, heavy chain 10, non-muscle 1303 actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1) 52 AATTTAATACCCTTCTTCTCT 0.408000 11 222 2.27111e-07 2.39454e-07 1 1 0 PDE8B 8622 broad.mit.edu 37 5 76646926 76646926 + Missense_Mutation SNP G G A TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr5:76646926G>A ENST00000264917.5 + 9 1099 c.1054G>A c.(1054-1056)Ggg>Agg p.G352R PDE8B_ENST00000333194.4_Missense_Mutation_p.G352R|PDE8B_ENST00000346042.3_Intron|PDE8B_ENST00000340978.3_Missense_Mutation_p.G305R|PDE8B_ENST00000342343.4_Missense_Mutation_p.G332R NM_003719.3 NP_003710.1 O95263 PDE8B_HUMAN phosphodiesterase 8B 352 cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent cytosol 3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity p.G352R(1) GMDS/PDE8B(2) NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3) 40 all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605) OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38) ACGGAAATCCGGGGACAGCAT 0.502000 13 82 0 0 1 0 0 UTP18 51096 broad.mit.edu 37 17 49353296 49353296 + Missense_Mutation SNP C C A TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr17:49353296C>A ENST00000225298.7 + 6 838 c.781C>A c.(781-783)Ccc>Acc p.P261T NM_016001.2 NP_057085.2 Q9Y5J1 UTP18_HUMAN UTP18 small subunit (SSU) processome component homolog (yeast) 261 rRNA processing nucleolus breast(2)|endometrium(3)|kidney(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 16 BRCA - Breast invasive adenocarcinoma(22;2.09e-07) GCAGTTCCATCCCGGTGCACA 0.383000 7 415 0.0381472 0.0381472 1 1 0 THAP4 51078 broad.mit.edu 37 2 242572368 242572368 + Missense_Mutation SNP C C T TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr2:242572368C>T ENST00000407315.1 - 2 1635 c.1204G>A c.(1204-1206)Gtc>Atc p.V402I NM_015963.5 NP_057047.4 Q8WY91 THAP4_HUMAN THAP domain containing 4 402 DNA binding|metal ion binding kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1) 9 all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2) Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844) GGATAGGGGACGCTCACTCTC 0.627000 6 91 0 0 1 0 0 WDR3 10885 broad.mit.edu 37 1 118477263 118477263 + Missense_Mutation SNP G G C TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr1:118477263G>C ENST00000349139.4 + 3 386 c.339G>C c.(337-339)ttG>ttC p.L113F WDR3_ENST00000471680.1_3'UTR|WDR3_ENST00000369441.3_3'UTR NM_006784.2 NP_006775.1 Q9UNX4 WDR3_HUMAN WD repeat domain 3 113 nuclear membrane|nucleolus breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1) 49 Esophageal squamous(2;0.162) all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244) OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185) TCACTACCTTGAAGTATGATC 0.478000 25 394 0 0 1 0 0 PCDHGC5 0 broad.mit.edu 37 5 140869580 140869580 + Missense_Mutation SNP G G A TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr5:140869580G>A ENST00000252087.1 + 1 773 c.773G>A c.(772-774)gGt>gAt p.G258D PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB4_ENST00000519479.1_Intron NM_018929.2|NM_032403.2|NM_032407.1 NP_061752.1|NP_115779.1|NP_115783.1 Q9Y5F6 PCDGM_HUMAN 258 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2) 35 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCACCCATTGGTACTCTGCTG 0.517000 109 571 0 0 1 0 0 PKD1L1 168507 broad.mit.edu 37 7 47842826 47842826 + Silent SNP G G T TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr7:47842826G>T ENST00000289672.2 - 53 7994 c.7944C>A c.(7942-7944)ccC>ccA p.P2648P C7orf69_ENST00000258776.4_Intron|C7orf69_ENST00000418326.2_Intron NM_138295.3 NP_612152.1 Q8TDX9 PK1L1_HUMAN polycystic kidney disease 1 like 1 2648 cell-cell adhesion integral to membrane BBS9/PKD1L1(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5) 142 CAAAGATGCTGGGGAGTGAGT 0.463000 32 250 5.8336e-16 6.32245e-16 1 1 0 CDYL2 124359 broad.mit.edu 37 16 80718735 80718735 + Missense_Mutation SNP G G A TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr16:80718735G>A ENST00000299564.8 - 2 471 c.316C>T c.(316-318)Cgg>Tgg p.R106W CDYL2_ENST00000566173.1_Missense_Mutation_p.R106W|CDYL2_ENST00000562753.1_5'UTR|CDYL2_ENST00000563890.1_Missense_Mutation_p.R106W|CDYL2_ENST00000562812.1_Missense_Mutation_p.R106W NM_152342.2 NP_689555.2 Q8N8U2 CDYL2_HUMAN chromodomain protein, Y-like 2 106 nucleus catalytic activity|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1) 21 ATTCGCTTCCGTTTATGGGAG 0.557000 52 221 0 0 1 0 0 GRAMD1C 54762 broad.mit.edu 37 3 113595066 113595066 + Missense_Mutation SNP C C T TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr3:113595066C>T ENST00000358160.4 + 5 910 c.418C>T c.(418-420)Ctc>Ttc p.L140F GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000452134.2_5'UTR NM_017577.4 NP_060047.3 Q8IYS0 GRM1C_HUMAN GRAM domain containing 1C 140 integral to membrane NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3) 26 AACTGCTCGACTCATCCCAAA 0.303000 79 438 0 0 1 0 0 RP11-407N17.3 0 broad.mit.edu 37 14 39818172 39818172 + Missense_Mutation SNP C C G TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr14:39818172C>G ENST00000553728.1 + 27 4057 c.3844C>G c.(3844-3846)Cca>Gca p.P1282A CTAGE5_ENST00000280083.3_Missense_Mutation_p.P747A|CTAGE5_ENST00000396165.4_Missense_Mutation_p.P718A|CTAGE5_ENST00000553383.1_3'UTR|CTAGE5_ENST00000341502.5_Missense_Mutation_p.P747A|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.P718A|CTAGE5_ENST00000553352.1_Missense_Mutation_p.P718A|CTAGE5_ENST00000348007.3_Missense_Mutation_p.P704A|CTAGE5_ENST00000556148.1_Missense_Mutation_p.P672A|CTAGE5_ENST00000396158.2_Missense_Mutation_p.P752A|CTAGE5_ENST00000557038.1_Missense_Mutation_p.P667A|CTAGE5_ENST00000341749.3_Missense_Mutation_p.P735A ACCACCTGCTCCATTTGCAAG 0.408000 65 412 0 0 1 0 0 KIAA0100 9703 broad.mit.edu 37 17 26971150 26971150 + Missense_Mutation SNP G G C TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr17:26971150G>C ENST00000528896.2 - 2 198 c.124C>G c.(124-126)Cta>Gta p.L42V KIAA0100_ENST00000389003.3_5'UTR|KIAA0100_ENST00000544884.1_5'UTR NM_014680.3 NP_055495.2 Q14667 K0100_HUMAN KIAA0100 42 extracellular region breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3) 68 Lung NSC(42;0.00431) CCAATCTTTAGCTCCGCCTGC 0.473000 OREG0024280 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 83 507 0 0 1 0 0 POLR3B 55703 broad.mit.edu 37 12 106820987 106820987 + Missense_Mutation SNP C C T TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr12:106820987C>T ENST00000228347.4 + 13 1336 c.1114C>T c.(1114-1116)Ctt>Ttt p.L372F POLR3B_ENST00000549195.1_3'UTR|POLR3B_ENST00000539066.1_Missense_Mutation_p.L314F NM_018082.5 NP_060552.4 Q9NW08 RPC2_HUMAN polymerase (RNA) III (DNA directed) polypeptide B 372 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding p.L372F(2) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2) 57 TTTATCTCTTCTTTTTGAAGA 0.274000 32 142 0 0 1 0 0 ETV5 2119 broad.mit.edu 37 3 185783686 185783686 + Missense_Mutation SNP G G C TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr3:185783686G>C ENST00000306376.5 - 8 1072 c.826C>G c.(826-828)Ccg>Gcg p.P276A ETV5_ENST00000434744.1_Missense_Mutation_p.P276A|ETV5_ENST00000537818.1_Missense_Mutation_p.P318A NM_004454.2 NP_004445.1 P41161 ETV5_HUMAN ets variant 5 276 cellular response to oxidative stress nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 28 all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247) OV - Ovarian serous cystadenocarcinoma(80;1.62e-24) GGCATGCCCGGGACCCCATGT 0.552000 T """TMPRSS2, SCL45A3""" Prostate 24 420 0 0 1 0 0 RERE 473 broad.mit.edu 37 1 8420609 8420609 + Silent SNP T T G TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr1:8420609T>G ENST00000337907.3 - 19 3592 c.2958A>C c.(2956-2958)ccA>ccC p.P986P RERE_ENST00000377464.1_Silent_p.P718P|RERE_ENST00000400907.2_Intron|RERE_ENST00000476556.1_Silent_p.P432P|RERE_ENST00000400908.2_Silent_p.P986P NM_012102.3 NP_036234.3 Q9P2R6 RERE_HUMAN arginine-glutamic acid dipeptide (RE) repeats 986 Pro-rich. multicellular organismal development|NLS-bearing substrate import into nucleus mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.P986P(4) central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) GTTGCAGGGGTGGGGGGTGAG 0.706000 8 154 0 0 1 0 0 RREB1 6239 broad.mit.edu 37 6 7231195 7231195 + Missense_Mutation SNP G G A TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr6:7231195G>A ENST00000379938.2 + 10 3400 c.2863G>A c.(2863-2865)Gaa>Aaa p.E955K RREB1_ENST00000334984.6_Missense_Mutation_p.E955K|RREB1_ENST00000349384.6_Missense_Mutation_p.E955K|RREB1_ENST00000379933.3_Missense_Mutation_p.E955K NM_001003699.3|NM_001003700.1 NP_001003699.1|NP_001003700.1 Q92766 RREB1_HUMAN ras responsive element binding protein 1 955 multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter cytoplasm|nuclear speck DNA binding|zinc ion binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 Ovarian(93;0.0398) all_hematologic(90;0.0384)|Prostate(151;0.191) CACTCCCAGCGAAGCCAAGAA 0.617000 17 85 0 0 1 0 0 NCOA2 10499 broad.mit.edu 37 8 71082538 71082538 + Missense_Mutation SNP A A G TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr8:71082538A>G ENST00000452400.2 - 6 621 c.440T>C c.(439-441)cTa>cCa p.L147P NM_006540.2 NP_006531.1 Q15596 NCOA2_HUMAN nuclear receptor coactivator 2 147 PAS. cellular lipid metabolic process|transcription, DNA-dependent nucleoplasm histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity PAX3/NCOA2(4)|HEY1/NCOA2(10) NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4) 60 Breast(64;0.201) Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606) GTTATACCTTAGATACTGTGT 0.418000 T """RUNXBP2, HEY1""" """AML, Chondrosarcoma""" 12 78 0 0 1 0 0 PUM1 9698 broad.mit.edu 37 1 31409636 31409636 + Missense_Mutation SNP C C T TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr1:31409636C>T ENST00000373747.3 - 21 3391 c.3292G>A c.(3292-3294)Gct>Act p.A1098T PUM1_ENST00000257075.5_Missense_Mutation_p.A1095T|PUM1_ENST00000426105.2_Missense_Mutation_p.A1097T|PUM1_ENST00000424085.2_Missense_Mutation_p.A853T|PUM1_ENST00000423018.2_Missense_Mutation_p.A953T|PUM1_ENST00000373741.4_Missense_Mutation_p.A1133T|PUM1_ENST00000373742.2_Missense_Mutation_p.A1036T|PUM1_ENST00000440538.2_Missense_Mutation_p.A1071T NM_001020658.1 NP_001018494.1 Q14671 PUM1_HUMAN pumilio RNA-binding family member 1 1095 PUM-HD. cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation cytosol RNA binding breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123) STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681) ATGAGCACAGCGCGCTCCGTA 0.507000 11 200 0 0 1 0 0 COL4A4 1286 broad.mit.edu 37 2 227875104 227875104 + Missense_Mutation SNP C C A TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr2:227875104C>A ENST00000396625.3 - 46 4654 c.4447G>T c.(4447-4449)Ggc>Tgc p.G1483C COL4A4_ENST00000329662.7_Missense_Mutation_p.G1480C NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 1483 Collagen IV NC1. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) CTGGGCATGCCCAGGGGGCAG 0.577000 45 281 5.48756e-27 6.15368e-27 1 1 0 KCNJ12 3768 broad.mit.edu 37 17 21318787 21318787 + Missense_Mutation SNP C C T rs144531040 byFrequency TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr17:21318787C>T ENST00000583088.1 + 3 1028 c.133C>T c.(133-135)Cgc>Tgc p.R45C KCNJ12_ENST00000331718.5_Missense_Mutation_p.R45C NM_021012.4 NP_066292.2 potassium inwardly-rectifying channel, subfamily J, member 12 NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3) 70 Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732) GTGCCGCAACCGCTTCGTCAA 0.602000 Prostate(3;0.18) 9 224 0 0 1 0 0 LAMB4 22798 broad.mit.edu 37 7 107735753 107735753 + Missense_Mutation SNP G G A TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr7:107735753G>A ENST00000388781.3 - 12 1473 c.1390C>T c.(1390-1392)Cca>Tca p.P464S LAMB4_ENST00000388780.3_Missense_Mutation_p.P464S|LAMB4_ENST00000205386.4_Missense_Mutation_p.P464S|LAMB4_ENST00000414450.2_Missense_Mutation_p.P464S NM_007356.2 NP_031382.2 A4D0S4 LAMB4_HUMAN laminin, beta 4 464 Laminin EGF-like 4. cell adhesion basement membrane NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4) 97 GTCAAGAATGGCAGACTCCCA 0.453000 5 198 0 0 1 0 0 NCAPG 64151 broad.mit.edu 37 4 17839269 17839269 + Missense_Mutation SNP G G C TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr4:17839269G>C ENST00000251496.2 + 16 2487 c.2311G>C c.(2311-2313)Gaa>Caa p.E771Q NM_022346.3 NP_071741.2 Q9BPX3 CND3_HUMAN non-SMC condensin I complex, subunit G 771 cell division|mitotic chromosome condensation condensin complex|cytoplasm|nucleus protein binding breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 27 STAD - Stomach adenocarcinoma(129;0.18) GGAATGCTTTGAAGAAGCTTT 0.358000 109 642 0 0 1 0 0 CFH 3075 broad.mit.edu 37 1 196695962 196695962 + Missense_Mutation SNP T T C TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr1:196695962T>C ENST00000367429.4 + 14 2368 c.2128T>C c.(2128-2130)Tac>Cac p.Y710H NM_000186.3 NP_000177.2 P08603 CFAH_HUMAN complement factor H 710 Sushi 12. complement activation, alternative pathway extracellular space NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 CCCTCCTTATTACTATGGAGA 0.393000 67 359 0 0 1 0 0 MAGED2 10916 broad.mit.edu 37 X 54841940 54841940 + Missense_Mutation SNP C C A TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chrX:54841940C>A ENST00000375068.1 + 12 1879 c.1646C>A c.(1645-1647)aCt>aAt p.T549N MAGED2_ENST00000218439.4_Missense_Mutation_p.T549N|MAGED2_ENST00000343474.6_Missense_Mutation_p.T531N|MAGED2_ENST00000375060.1_Missense_Mutation_p.T464N|MAGED2_ENST00000375053.2_Missense_Mutation_p.T549N|MAGED2_ENST00000375058.1_Missense_Mutation_p.T549N|MAGED2_ENST00000396224.1_Missense_Mutation_p.T549N|MAGED2_ENST00000375062.4_Missense_Mutation_p.T464N|MAGED2_ENST00000347546.3_Missense_Mutation_p.T493N Q9UNF1 MAGD2_HUMAN melanoma antigen family D, 2 549 breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 26 agtgccagcactggtgccagt 0.597000 9 22 1.58986e-06 1.66721e-06 1 1 0 PRKD3 23683 broad.mit.edu 37 2 37520399 37520399 + Missense_Mutation SNP A A C TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr2:37520399A>C ENST00000379066.1 - 3 1066 c.304T>G c.(304-306)Ttc>Gtc p.F102V PRKD3_ENST00000234179.2_Missense_Mutation_p.F102V O94806 KPCD3_HUMAN protein kinase D3 102 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction cytoplasm|membrane|nucleus ATP binding|metal ion binding|protein binding|protein kinase C activity breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 all_hematologic(82;0.21) ATGCCAAAGAATCCACACTCT 0.333000 9 454 0 0 1 0 0 TECTA 7007 broad.mit.edu 37 11 121028674 121028674 + Missense_Mutation SNP G G A TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr11:121028674G>A ENST00000392793.1 + 14 4701 c.4430G>A c.(4429-4431)cGc>cAc p.R1477H TECTA_ENST00000264037.2_Missense_Mutation_p.R1477H O75443 TECTA_HUMAN tectorin alpha 1477 cell-matrix adhesion|sensory perception of sound anchored to membrane|plasma membrane|proteinaceous extracellular matrix TECTA/TBCEL(2) NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 135 all_hematologic(175;0.208) Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166) AACGGGGTGCGCGGCTGCTTC 0.687000 39 245 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179456474 179456474 + Missense_Mutation SNP C C G TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr2:179456474C>G ENST00000589042.1 - 303 60296 c.60072G>C c.(60070-60072)tgG>tgC p.W20024C TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.W10959C|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.W11084C|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.W18383C|TTN_ENST00000342175.6_Missense_Mutation_p.W11151C|TTN_ENST00000342992.6_Missense_Mutation_p.W17456C|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 18383 Fibronectin type-III 45. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TAAATTTAATCCAGTCCTGGG 0.423000 11 478 0 0 1 0 0 DAGLA 747 broad.mit.edu 37 11 61508664 61508664 + Missense_Mutation SNP G G A TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr11:61508664G>A ENST00000257215.5 + 19 2130 c.2014G>A c.(2014-2016)Gct>Act p.A672T NM_006133.2 NP_006124.1 Q9Y4D2 DGLA_HUMAN diacylglycerol lipase, alpha 672 cell death|lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4) 43 READ - Rectum adenocarcinoma(4;0.219) GGGGAAGACCGCTCTGCTCTC 0.637000 43 256 0 0 1 0 0 RNF213 57674 broad.mit.edu 37 17 78324169 78324169 + Missense_Mutation SNP G G A TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr17:78324169G>A ENST00000582970.1 + 31 10300 c.10157G>A c.(10156-10158)cGt>cAt p.R3386H RNF213_ENST00000336301.6_Missense_Mutation_p.R1459H|RNF213_ENST00000508628.2_Missense_Mutation_p.R3435H NM_001256071.1 NP_001243000.1 Q9HCF4 ALO17_HUMAN ring finger protein 213 0 NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) GATGGAATCCGTAGCGCCCAG 0.353000 21 324 0 0 1 0 0 GBAP1 0 broad.mit.edu 37 1 155188655 155188655 + RNA SNP G G C TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr1:155188655G>C ENST00000486869.1 - 0 79 NR_002188.2 GGAAGGACTTGAAAACTCCAT 0.463000 32 221 0 0 1 0 0 TPP2 7174 broad.mit.edu 37 13 103301346 103301346 + Silent SNP T T A TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr13:103301346T>A ENST00000376052.3 + 22 2734 c.2718T>A c.(2716-2718)ctT>ctA p.L906L TPP2_ENST00000376065.4_Silent_p.L906L P29144 TPP2_HUMAN tripeptidyl peptidase II 906 proteolysis cytoplasm|nucleus aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 52 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TTAAAGACCTTCCATTTATTG 0.338000 65 475 0 0 1 0 0 MEGF8 1954 broad.mit.edu 37 19 42848986 42848986 + Splice_Site SNP G G C TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr19:42848986G>C ENST00000334370.4 + 12 2732 c.e12+1 MEGF8_ENST00000251268.6_Splice_Site NM_001410.2 NP_001401.2 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 integral to membrane calcium ion binding|structural molecule activity breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 Prostate(69;0.00682) GCCTGACAAGGTGGGTAGGAG 0.542000 31 368 0 0 1 0 0 EPHB4 2050 broad.mit.edu 37 7 100421350 100421350 + Silent SNP C C T TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr7:100421350C>T ENST00000358173.3 - 3 795 c.327G>A c.(325-327)gaG>gaA p.E109E EPHB4_ENST00000477446.1_5'UTR|EPHB4_ENST00000360620.3_Silent_p.E109E NM_004444.4 NP_004435.3 P54760 EPHB4_HUMAN EPH receptor B4 109 cell proliferation|organ morphogenesis|regulation of angiogenesis cell surface|integral to plasma membrane ATP binding|ephrin receptor activity breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3) 47 Lung NSC(181;0.041)|all_lung(186;0.0581) CGGTGAAGGTCTCCTTGCAGG 0.667000 42 314 0 0 1 0 0 C16orf70 80262 broad.mit.edu 37 16 67166803 67166803 + Missense_Mutation SNP C C T TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr16:67166803C>T ENST00000219139.3 + 6 627 c.439C>T c.(439-441)Cca>Tca p.P147S C16orf70_ENST00000569683.1_3'UTR|C16orf70_ENST00000569600.1_Missense_Mutation_p.P147S NM_025187.3 NP_079463.2 Q9BSU1 CP070_HUMAN chromosome 16 open reading frame 70 147 cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1) 17 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579) GACTGAGGCTCCAAAGTATGA 0.512000 108 666 0 0 1 0 0 ZNF619 285267 broad.mit.edu 37 3 40529155 40529155 + Missense_Mutation SNP C C T rs139131960 by1000genomes TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr3:40529155C>T ENST00000447116.2 + 6 1581 c.1274C>T c.(1273-1275)tCg>tTg p.S425L ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000521353.1_Missense_Mutation_p.S425L|ZNF619_ENST00000314686.5_Missense_Mutation_p.S369L|ZNF619_ENST00000522736.1_Missense_Mutation_p.S376L|ZNF619_ENST00000432264.2_Missense_Mutation_p.S385L|ZNF619_ENST00000429348.2_Missense_Mutation_p.S385L|ZNF619_ENST00000456778.1_Missense_Mutation_p.S341L NM_001145082.2 NP_001138554.1 E9PCD9 E9PCD9_HUMAN zinc finger protein 619 425 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 21 KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661) CACCGCAGTTCGGTATTTCTT 0.443000 54 263 0 0 1 0 0 DHX38 9785 broad.mit.edu 37 16 72138480 72138480 + Silent SNP C C T TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr16:72138480C>T ENST00000268482.3 + 15 2615 c.2106C>T c.(2104-2106)ttC>ttT p.F702F DHX38_ENST00000536867.1_Intron NM_014003.3 NP_054722.2 Q92620 PRP16_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 38 702 Helicase ATP-binding. mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription catalytic step 2 spliceosome|nucleoplasm ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1) 48 Ovarian(137;0.125) TCCCCATCTTCCACATCCCTG 0.537000 66 404 0 0 1 0 0 PCDHB2 0 broad.mit.edu 37 5 140475321 140475321 + Missense_Mutation SNP C C T TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr5:140475321C>T ENST00000194155.4 + 1 1095 c.947C>T c.(946-948)aCa>aTa p.T316I NM_018936.2 NP_061759.1 Q9Y5E7 PCDB2_HUMAN 316 Cadherin 3. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCCATCCAGACATACACAGTA 0.423000 47 300 0 0 1 0 0 PCYT2 5833 broad.mit.edu 37 17 79866869 79866869 + Missense_Mutation SNP C C T TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr17:79866869C>T ENST00000538936.2 - 3 331 c.223G>A c.(223-225)Gag>Aag p.E75K PCYT2_ENST00000571105.1_Missense_Mutation_p.E75K|PCYT2_ENST00000331285.3_5'UTR|PCYT2_ENST00000538721.2_Missense_Mutation_p.E75K|PCYT2_ENST00000570388.1_5'UTR|PCYT2_ENST00000570391.1_Missense_Mutation_p.E43K NM_001256435.1|NM_002861.3 NP_001243364.1|NP_002852.1 Q99447 PCY2_HUMAN phosphate cytidylyltransferase 2, ethanolamine 75 Catalytic 1 (Potential). phospholipid biosynthetic process ethanolamine-phosphate cytidylyltransferase activity breast(2)|endometrium(1)|lung(4)|ovary(1) 8 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) TTGTATCTCTCCTCCTGAGTG 0.592000 34 211 0 0 1 0 0 MKI67 4288 broad.mit.edu 37 10 129903384 129903384 + Missense_Mutation SNP C C G TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr10:129903384C>G ENST00000368654.3 - 13 7095 c.6720G>C c.(6718-6720)aaG>aaC p.K2240N MKI67_ENST00000368653.3_Missense_Mutation_p.K1880N NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 2240 16 X 122 AA approximate repeats. cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) TGAGACTTCTCTTGGACTGTG 0.498000 226 1154 0 0 1 0 0 AIMP1 9255 broad.mit.edu 37 4 107252827 107252827 + Splice_Site SNP A A G TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr4:107252827A>G ENST00000394701.4 + 5 504 c.e5-1 AIMP1_ENST00000358008.3_Splice_Site|AIMP1_ENST00000442366.1_Splice_Site NM_001142416.1 NP_001135888.1 Q12904 AIMP1_HUMAN aminoacyl tRNA synthetase complex-interacting multifunctional protein 1 angiogenesis|apoptosis|cell adhesion|cell-cell signaling|chemotaxis|glucose metabolic process|inflammatory response|leukocyte migration|negative regulation of endothelial cell proliferation|signal transduction|tRNA aminoacylation for protein translation aminoacyl-tRNA synthetase multienzyme complex|cytosol|endoplasmic reticulum|extracellular space|Golgi apparatus|nucleus|transport vesicle cell surface binding|cytokine activity|protein homodimerization activity|tRNA binding breast(1)|endometrium(2)|kidney(1)|lung(5)|skin(1)|urinary_tract(1) 11 AATACTTTTTAGGAGAGAAGA 0.358000 5 311 0 0 1 0 0 FBN3 84467 broad.mit.edu 37 19 8190867 8190867 + Silent SNP A A G TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr19:8190867A>G ENST00000600128.1 - 22 3054 c.2640T>C c.(2638-2640)tgT>tgC p.C880C FBN3_ENST00000601739.1_Silent_p.C880C|FBN3_ENST00000270509.2_Silent_p.C880C Q75N90 FBN3_HUMAN fibrillin 3 880 EGF-like 11; calcium-binding. proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 132 GCCCGTTGGGACAGACTCCCG 0.637000 29 184 0 0 1 0 0 DLGAP1 9229 broad.mit.edu 37 18 3879577 3879577 + Silent SNP G G A TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr18:3879577G>A ENST00000315677.3 - 4 1087 c.492C>T c.(490-492)aaC>aaT p.N164N DLGAP1_ENST00000515196.2_Silent_p.N164N|DLGAP1_ENST00000584874.1_Silent_p.N164N|DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000581527.1_Silent_p.N164N NM_004746.3 NP_004737.2 O14490 DLGP1_HUMAN discs, large (Drosophila) homolog-associated protein 1 164 synaptic transmission cell junction|postsynaptic density|postsynaptic membrane breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1) 56 Colorectal(8;0.0257) CCTTGCCCCCGTTGACGCTGC 0.711000 97 394 0 0 1 0 0 CHPF 79586 broad.mit.edu 37 2 220406647 220406647 + Missense_Mutation SNP G G T TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr2:220406647G>T ENST00000243776.6 - 2 827 c.579C>A c.(577-579)gaC>gaA p.D193E CHPF_ENST00000535926.1_Missense_Mutation_p.D31E|CHPF_ENST00000373891.2_Missense_Mutation_p.D193E NM_024536.5 NP_078812.2 Q8IZ52 CHSS2_HUMAN chondroitin polymerizing factor 193 Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1) 21 Renal(207;0.0183) Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802) GGAAGAACCAGTCAAAGTCGT 0.672000 OREG0015229 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 4 87 0.000602214 0.000611673 1 1 0 FAT1 2195 broad.mit.edu 37 4 187524664 187524664 + Silent SNP A A G TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr4:187524664A>G ENST00000441802.2 - 19 11225 c.11016T>C c.(11014-11016)ggT>ggC p.G3672G NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 3672 actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 TCCTCCTCACACCCAGGATGT 0.502000 HNSCC(5;0.00058) 23 126 0 0 1 0 0 RELN 5649 broad.mit.edu 37 7 103234836 103234836 + Missense_Mutation SNP C C T TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr7:103234836C>T ENST00000428762.1 - 26 3802 c.3643G>A c.(3643-3645)Gat>Aat p.D1215N RELN_ENST00000343529.5_Missense_Mutation_p.D1215N|RELN_ENST00000424685.2_Missense_Mutation_p.D1215N NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 1215 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) ATGATGTCATCGACTGCCCAC 0.517000 176 1177 0 0 1 0 0 PPP2R1A 5518 broad.mit.edu 37 19 52709296 52709296 + Missense_Mutation SNP G G C TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr19:52709296G>C ENST00000322088.6 + 3 308 c.250G>C c.(250-252)Gag>Cag p.E84Q PPP2R1A_ENST00000462990.1_5'UTR|PPP2R1A_ENST00000444322.2_Intron|PPP2R1A_ENST00000473455.2_3'UTR NM_014225.5 NP_055040.2 P30153 2AAA_HUMAN protein phosphatase 2, regulatory subunit A, alpha 84 PP2A subunit B binding.|Polyoma small and medium T antigens Binding. ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1) 135 GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015) GGGAGGCCCAGAGTACGTGCA 0.607000 Mis clear cell ovarian carcinoma 11 264 0 0 1 0 0 OTUD4 54726 broad.mit.edu 37 4 146059041 146059041 + Silent SNP A A G TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr4:146059041A>G ENST00000454497.2 - 21 2828 c.2691T>C c.(2689-2691)caT>caC p.H897H OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000447906.2_Silent_p.H962H NM_001102653.1 NP_001096123.1 Q01804 OTUD4_HUMAN OTU domain containing 4 961 protein binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(180;0.151) GAGTGGGAGGATGAGCCTTTC 0.478000 8 644 0 0 1 0 0 ABCC11 85320 broad.mit.edu 37 16 48248799 48248799 + Missense_Mutation SNP G G A TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr16:48248799G>A ENST00000394747.1 - 8 1590 c.1241C>T c.(1240-1242)gCg>gTg p.A414V ABCC11_ENST00000537808.1_Missense_Mutation_p.A414V|ABCC11_ENST00000394748.1_Missense_Mutation_p.A414V|ABCC11_ENST00000356608.2_Missense_Mutation_p.A414V|ABCC11_ENST00000353782.5_Missense_Mutation_p.A414V NM_033151.3 NP_149163.2 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 11 414 ABC transmembrane type-1 1. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2) 83 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) TACCATTGACGCTGTGAGTTT 0.493000 27 179 0 0 1 0 0 ZC3H4 23211 broad.mit.edu 37 19 47585472 47585472 + Silent SNP G G A TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr19:47585472G>A ENST00000253048.5 - 10 1336 c.1299C>T c.(1297-1299)tgC>tgT p.C433C ZC3H4_ENST00000594019.1_Intron NM_015168.1 NP_055983.1 Q9UPT8 ZC3H4_HUMAN zinc finger CCCH-type containing 4 433 nucleic acid binding|zinc ion binding NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1) 41 all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889) OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372) CAGCTCTGGCGCAAAATCCAG 0.463000 5 367 0 0 1 0 0 ITGA4 3676 broad.mit.edu 37 2 182347132 182347132 + Missense_Mutation SNP G G C TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr2:182347132G>C ENST00000397033.2 + 8 1316 c.886G>C c.(886-888)Gaa>Caa p.E296Q NM_000885.4 NP_000876.3 P13612 ITA4_HUMAN integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) 296 blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response integrin complex identical protein binding|receptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 OV - Ovarian serous cystadenocarcinoma(117;0.0593) Natalizumab(DB00108) TATCTTACATGAAATGAAAGG 0.308000 18 394 0 0 1 0 0 OR4B1 119765 broad.mit.edu 37 11 48238701 48238701 + Missense_Mutation SNP G G A TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr11:48238701G>A ENST00000309562.2 + 1 358 c.340G>A c.(340-342)Gtg>Atg p.V114M NM_001005470.1 NP_001005470.1 Q8NGF8 OR4B1_HUMAN olfactory receptor, family 4, subfamily B, member 1 114 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V114L(1) breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 28 CCTTTTGATTGTGGTGATGGC 0.443000 103 585 0 0 1 0 0 ZNF778 197320 broad.mit.edu 37 16 89294771 89294771 + Missense_Mutation SNP G G A TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr16:89294771G>A ENST00000433976.2 + 6 2323 c.1991G>A c.(1990-1992)gGa>gAa p.G664E ZNF778_ENST00000306502.6_Missense_Mutation_p.G622E|RP11-46C24.6_ENST00000563182.1_RNA NM_001201407.1|NM_182531.3 NP_001188336.1|NP_872337.2 Q96MU6 ZN778_HUMAN zinc finger protein 778 664 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2) 24 BRCA - Breast invasive adenocarcinoma(80;0.0269) CATAAACATGGAAGAATTCAC 0.403000 4 128 0 0 1 0 0 AC008103.5 0 broad.mit.edu 37 22 18844766 18844766 + RNA SNP G G A TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr22:18844766G>A ENST00000412938.1 + 0 3016 CAGCCTCTGAGGGCAGCAGTG 0.557000 7 51 0 0 1 0 0 CRYBA2 1412 broad.mit.edu 37 2 219856841 219856841 + Missense_Mutation SNP G G A TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr2:219856841G>A ENST00000295728.2 - 2 522 c.286C>T c.(286-288)Cgg>Tgg p.R96W CRYBA2_ENST00000392096.2_Missense_Mutation_p.R96W NM_057093.1 NP_476434.1 P53672 CRBA2_HUMAN crystallin, beta A2 96 Beta/gamma crystallin 'Greek key' 2. structural constituent of eye lens endometrium(1)|lung(3)|prostate(1) 5 Renal(207;0.0474) Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AGCACTGGCCGGAAGGACAGC 0.622000 4 132 0 0 1 0 0 FAM189A2 9413 broad.mit.edu 37 9 71951186 71951186 + Splice_Site SNP G G T TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr9:71951186G>T ENST00000257515.8 + 2 432 c.e2+1 FAM189A2_ENST00000455972.1_Splice_Site NM_004816.3 NP_004807.3 Q15884 F1892_HUMAN family with sequence similarity 189, member A2 integral to membrane endometrium(3)|large_intestine(5)|liver(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 12 GATACTCCTGGTATGTACTGA 0.333000 85 572 9.94044e-53 1.12775e-52 1 1 0 C1RL 51279 broad.mit.edu 37 12 7254607 7254607 + Missense_Mutation SNP C C T TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr12:7254607C>T ENST00000266542.4 - 3 469 c.377G>A c.(376-378)aGg>aAg p.R126K C1RL_ENST00000545337.1_Missense_Mutation_p.R126K|C1RL_ENST00000545280.1_Missense_Mutation_p.G50R|C1RL_ENST00000544702.1_Missense_Mutation_p.R126K NM_016546.2 NP_057630.2 Q9NZP8 C1RL_HUMAN complement component 1, r subcomponent-like 126 CUB. complement activation, classical pathway|innate immune response|proteolysis serine-type endopeptidase activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 TACAAACTCCCTCTGACCAGG 0.607000 112 583 0 0 1 0 0 GPR27 2850 broad.mit.edu 37 3 71804286 71804286 + Silent SNP C C A TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr3:71804286C>A ENST00000304411.2 + 1 1086 c.1086C>A c.(1084-1086)acC>acA p.T362T NM_018971.1 NP_061844.1 Q9NS67 GPR27_HUMAN G protein-coupled receptor 27 362 integral to membrane|plasma membrane G-protein coupled receptor activity kidney(1)|lung(2)|ovary(1)|prostate(1) 5 Prostate(10;0.00899) BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156) CCCGGACCACCCAGGCGACCC 0.647000 4 66 2.56e-06 2.67011e-06 1 1 0 FGF6 2251 broad.mit.edu 37 12 4554454 4554454 + Missense_Mutation SNP C C T TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr12:4554454C>T ENST00000228837.2 - 1 326 c.283G>A c.(283-285)Ggc>Agc p.G95S NM_020996.1 NP_066276.2 P10767 FGF6_HUMAN fibroblast growth factor 6 95 angiogenesis|cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation extracellular space growth factor activity NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229) AGGTGAAAGCCGATGCCCACG 0.652000 37 178 0 0 1 0 0 ELK1 2002 broad.mit.edu 37 X 47498346 47498346 + Missense_Mutation SNP G G A TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chrX:47498346G>A ENST00000247161.3 - 3 701 c.602C>T c.(601-603)cCa>cTa p.P201L ELK1_ENST00000592066.1_Missense_Mutation_p.P147L|ELK1_ENST00000343894.4_Intron|ELK1_ENST00000376983.3_Missense_Mutation_p.P201L NM_005229.4 NP_005220.2 P19419 ELK1_HUMAN ELK1, member of ETS oncogene family 201 innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2) 10 CAAGGGGCTTGGACTGGTGCT 0.632000 11 13 0 0 1 0 0 MBTD1 0 broad.mit.edu 37 17 49272667 49272667 + Missense_Mutation SNP C C T TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr17:49272667C>T ENST00000586178.1 - 13 1623 c.1280G>A c.(1279-1281)gGa>gAa p.G427E MBTD1_ENST00000415868.1_Missense_Mutation_p.G427E|MBTD1_ENST00000376381.2_Intron NM_017643.2 NP_060113.2 Q05BQ5 MBTD1_HUMAN mbt domain containing 1 427 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)|urinary_tract(1) 12 BRCA - Breast invasive adenocarcinoma(22;1.54e-08) CCAGTCAGATCCGTCTGCTGC 0.428000 43 335 0 0 1 0 0 IBSP 3381 broad.mit.edu 37 4 88727301 88727301 + Nonsense_Mutation SNP G G T TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr4:88727301G>T ENST00000226284.5 + 5 278 c.211G>T c.(211-213)Gga>Tga p.G71* NM_004967.3 NP_004958.2 P21815 SIAL_HUMAN integrin-binding sialoprotein 71 Asp/Glu-rich (acidic). biomineral tissue development|cell adhesion|ossification breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10) 21 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154) CGAAGAAAATGGAGATGACAG 0.348000 31 168 1.61788e-16 1.76331e-16 1 1 0 UNC80 285175 broad.mit.edu 37 2 210650909 210650909 + Silent SNP T T C TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr2:210650909T>C ENST00000439458.1 + 5 800 c.720T>C c.(718-720)atT>atC p.I240I UNC80_ENST00000478701.1_3'UTR|UNC80_ENST00000272845.5_Silent_p.I240I NM_032504.1 NP_115893.1 Q8N2C7 UNC80_HUMAN unc-80 homolog (C. elegans) 240 integral to membrane breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1) 20 GGAACATCATTACAGGTTTGT 0.483000 16 252 0 0 1 0 0 NOS1 4842 broad.mit.edu 37 12 117693813 117693813 + Missense_Mutation SNP C C T TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr12:117693813C>T ENST00000338101.4 - 16 2565 c.2561G>A c.(2560-2562)cGt>cAt p.R854H NOS1_ENST00000317775.6_Intron|NOS1_ENST00000344089.3_Intron P29475 NOS1_HUMAN nitric oxide synthase 1 (neuronal) 844 Flavodoxin-like. multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 117 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) BRCA - Breast invasive adenocarcinoma(302;0.0561) L-Citrulline(DB00155) AGGCCCTTTACGGGGAAAGAA 0.602000 61 385 0 0 1 0 0 ZNF157 7712 broad.mit.edu 37 X 47272834 47272834 + Missense_Mutation SNP A A T TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chrX:47272834A>T ENST00000377073.3 + 4 1448 c.1362A>T c.(1360-1362)aaA>aaT p.K454N NM_003446.3 NP_003437.2 P51786 ZN157_HUMAN zinc finger protein 157 454 negative regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1) 11 TCTATGTGAAAGTACGCCTCA 0.438000 27 85 0 0 1 0 0 EML1 2009 broad.mit.edu 37 14 100374050 100374050 + Missense_Mutation SNP G G C TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr14:100374050G>C ENST00000262233.6 + 10 1223 c.1084G>C c.(1084-1086)Gaa>Caa p.E362Q EML1_ENST00000334192.4_Missense_Mutation_p.E381Q|EML1_ENST00000327921.9_Missense_Mutation_p.E350Q NM_004434.2 NP_004425.2 O00423 EMAL1_HUMAN echinoderm microtubule associated protein like 1 362 cytoplasm|microtubule|microtubule associated complex calcium ion binding|protein binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Melanoma(154;0.0879)|all_epithelial(191;0.216) GCAGAAAGAAGAAAAACTAGC 0.468000 41 229 0 0 1 0 0 ATAD2 29028 broad.mit.edu 37 8 124348628 124348628 + Missense_Mutation SNP C C G TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr8:124348628C>G ENST00000287394.5 - 22 3303 c.3196G>C c.(3196-3198)Gat>Cat p.D1066H ATAD2_ENST00000521903.1_Missense_Mutation_p.D384H NM_014109.3 NP_054828.2 Q6PL18 ATAD2_HUMAN ATPase family, AAA domain containing 2 1066 Bromo. regulation of transcription, DNA-dependent|transcription, DNA-dependent mitochondrion|nucleus ATP binding|ATPase activity p.D1066Y(1) breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 48 Lung NSC(37;1.25e-09)|Ovarian(258;0.00838) STAD - Stomach adenocarcinoma(47;0.00288) GGATCTCTATCTGGATTGTAT 0.373000 57 332 0 0 1 0 0 CAMSAP3 57662 broad.mit.edu 37 19 7673099 7673099 + Missense_Mutation SNP G G A TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr19:7673099G>A ENST00000446248.2 + 7 891 c.790G>A c.(790-792)Gcg>Acg p.A264T CAMSAP3_ENST00000160298.4_Missense_Mutation_p.A237T NM_001080429.2 NP_001073898.1 Q9P1Y5 CAMP3_HUMAN calmodulin regulated spectrin-associated protein family, member 3 237 CH. epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance cytoplasm|microtubule|zonula adherens microtubule minus-end binding cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2) 19 CAGTGGGGCCGCGCTGGCCGC 0.642000 12 275 0 0 1 0 0 MATN2 4147 broad.mit.edu 37 8 99019798 99019798 + Silent SNP C C T TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr8:99019798C>T ENST00000254898.5 + 10 1773 c.1542C>T c.(1540-1542)caC>caT p.H514H MATN2_ENST00000524308.1_Silent_p.H473H|MATN2_ENST00000520016.1_Silent_p.H514H|MATN2_ENST00000522025.2_Silent_p.H230H|MATN2_ENST00000521689.1_Silent_p.H514H NM_002380.3|NM_030583.2 NP_002371.3|NP_085072.2 O00339 MATN2_HUMAN matrilin 2 514 EGF-like 7. proteinaceous extracellular matrix calcium ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1) 31 Breast(36;1.43e-06) OV - Ovarian serous cystadenocarcinoma(57;0.244) CTGAGGGACACGTGCTCCGCA 0.567000 64 292 0 0 1 0 0 ALB 213 broad.mit.edu 37 4 74283893 74283893 + Missense_Mutation SNP T T C TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr4:74283893T>C ENST00000295897.4 + 12 1606 c.1517T>C c.(1516-1518)gTg>gCg p.V506A ALB_ENST00000509063.1_Missense_Mutation_p.V506A|ALB_ENST00000503124.1_Missense_Mutation_p.V356A|ALB_ENST00000415165.2_Missense_Mutation_p.V314A|ALB_ENST00000401494.3_Missense_Mutation_p.V391A|ALB_ENST00000505649.1_3'UTR NM_000477.5 NP_000468.1 P02768 ALBU_HUMAN albumin 506 Albumin 3. bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport extracellular space|platelet alpha granule lumen|protein complex antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1) 48 Breast(15;0.00102) Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137) GAATCCTTGGTGAACAGGCGA 0.448000 76 468 0 0 1 0 0 CDH23 64072 broad.mit.edu 37 10 73377087 73377087 + Silent SNP C C T TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr10:73377087C>T ENST00000224721.6 + 10 1091 c.1086C>T c.(1084-1086)atC>atT p.I362I CDH23_ENST00000461841.3_Silent_p.I402I|CDH23_ENST00000398809.4_Silent_p.I357I|CDH23_ENST00000299366.7_Silent_p.I402I|CDH23_ENST00000398842.3_Silent_p.I357I NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 357 Cadherin 4. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 GCGTGGCCATCACTGAGCTGG 0.557000 4 176 0 0 1 0 0 VTI1B 10490 broad.mit.edu 37 14 68118129 68118129 + Silent SNP A A C TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr14:68118129A>C ENST00000554659.1 - 6 1013 c.672T>G c.(670-672)gtT>gtG p.V224V ARG2_ENST00000261783.3_3'UTR NM_006370.2 NP_006361.1 Q9UEU0 VTI1B_HUMAN vesicle transport through interaction with t-SNAREs 1B 224 cell proliferation|cellular membrane fusion|intracellular protein transport|vesicle docking involved in exocytosis endomembrane system|integral to membrane endometrium(1)|large_intestine(2)|stomach(1)|upper_aerodigestive_tract(1) 5 all cancers(60;0.000344)|OV - Ovarian serous cystadenocarcinoma(108;0.00212)|BRCA - Breast invasive adenocarcinoma(234;0.00941) ATTTGTAGTAAACCAGGCCTC 0.453000 47 262 0 0 1 0 0 THRAP3 9967 broad.mit.edu 37 1 36752631 36752631 + Missense_Mutation SNP C C T TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr1:36752631C>T ENST00000354618.5 + 4 1024 c.800C>T c.(799-801)cCt>cTt p.P267L THRAP3_ENST00000469141.2_Missense_Mutation_p.P267L NM_005119.3 NP_005110.2 Q9Y2W1 TR150_HUMAN thyroid hormone receptor associated protein 3 267 Ser-rich. androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1) 37 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) TCACCCCGTCCTAGCCCCGTG 0.617000 T USP6 aneurysmal bone cysts 91 398 0 0 1 0 0 POLE 5426 broad.mit.edu 37 12 133240667 133240667 + Missense_Mutation SNP C C G TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr12:133240667C>G ENST00000320574.5 - 23 2672 c.2629G>C c.(2629-2631)Gtc>Ctc p.V877L POLE_ENST00000535270.1_Missense_Mutation_p.V850L NM_006231.2 NP_006222.2 Q07864 DPOE1_HUMAN polymerase (DNA directed), epsilon, catalytic subunit 877 base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair nucleoplasm chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 89 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.0416) OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05) GTCTTGAAGACAAAATTTTCT 0.517000 DNA polymerases (catalytic subunits) 40 216 0 0 1 0 0 SMEK2 57223 broad.mit.edu 37 2 55795477 55795477 + Silent SNP C C T TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr2:55795477C>T ENST00000272313.5 - 11 1860 c.1533G>A c.(1531-1533)cgG>cgA p.R511R SMEK2_ENST00000345102.5_Silent_p.R596R|SMEK2_ENST00000407823.3_Silent_p.R564R NM_020463.2 NP_065196.1 Q5MIZ7 P4R3B_HUMAN SMEK homolog 2, suppressor of mek1 (Dictyostelium) 574 microtubule organizing center|nucleus protein binding kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1) 16 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) GTCCAATTATCCGCCTCATAA 0.313000 57 284 0 0 1 0 0 ZFYVE20 64145 broad.mit.edu 37 3 15116060 15116060 + Silent SNP C C T TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr3:15116060C>T ENST00000253699.3 - 14 2197 c.1584G>A c.(1582-1584)cgG>cgA p.R528R ZFYVE20_ENST00000476527.2_Silent_p.R528R NM_022340.2 NP_071735.2 Q9H1K0 RBNS5_HUMAN zinc finger, FYVE domain containing 20 528 Necessary for the interaction with EHD1. blood coagulation|endosome transport|protein transport early endosome membrane|plasma membrane protein binding|zinc ion binding NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2) 26 GTTCCAACTCCCGTTCACGCA 0.597000 120 357 0 0 1 0 0 GPR50 9248 broad.mit.edu 37 X 150345311 150345311 + Missense_Mutation SNP G G A TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chrX:150345311G>A ENST00000218316.3 + 1 187 c.118G>A c.(118-120)Gtt>Att p.V40I GPR50-AS1_ENST00000454196.1_RNA NM_004224.3 NP_004215.2 Q13585 MTR1L_HUMAN G protein-coupled receptor 50 40 cell-cell signaling integral to plasma membrane melatonin receptor activity breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1) 38 Acute lymphoblastic leukemia(192;6.56e-05) TATCACCATCGTTGTAGACCT 0.512000 103 368 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25398285 25398285 + Missense_Mutation SNP C C G rs121913530 TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr12:25398285C>G ENST00000311936.3 - 2 225 c.34G>C c.(34-36)Ggt>Cgt p.G12R KRAS_ENST00000556131.1_Missense_Mutation_p.G12R|KRAS_ENST00000557334.1_Missense_Mutation_p.G12R|KRAS_ENST00000256078.4_Missense_Mutation_p.G12R NM_004985.3 NP_004976.2 P01116 RASK_HUMAN Kirsten rat sarcoma viral oncogene homolog 12 G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation). activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction plasma membrane GTP binding|GTPase activity|protein binding p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) CCTACGCCACCAGCTCCAACT 0.348000 G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 36 284 0 0 1 0 0 TSSC2 0 broad.mit.edu 37 11 3427845 3427845 + RNA SNP C C T TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr11:3427845C>T ENST00000529482.1 + 0 962 CTTCAAGTGGCAGGAGCAGAA 0.587000 7 187 0 0 1 0 0 CDC27 996 broad.mit.edu 37 17 45206848 45206848 + Missense_Mutation SNP T T A TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr17:45206848T>A ENST00000066544.3 - 16 2164 c.2071A>T c.(2071-2073)Acc>Tcc p.T691S CDC27_ENST00000527547.1_Missense_Mutation_p.T690S|CDC27_ENST00000531206.1_Missense_Mutation_p.T697S|CDC27_ENST00000446365.2_Missense_Mutation_p.T630S NM_001114091.1|NM_001256.3 NP_001107563.1|NP_001247.3 P30260 CDC27_HUMAN cell division cycle 27 691 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule protein phosphatase binding NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2) 90 TTGTTTAGGGTATCCAAAGCC 0.338000 16 461 0 0 1 0 0 RP11-156P1.3 0 broad.mit.edu 37 17 45128812 45128812 + RNA SNP C C T TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr17:45128812C>T ENST00000575173.1 - 0 418 AGTCCTGTTTCTGTGTGGATT 0.373000 5 272 0 0 1 0 0 BRWD1 54014 broad.mit.edu 37 21 40571514 40571514 + Missense_Mutation SNP T T A TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr21:40571514T>A ENST00000342449.3 - 40 4906 c.4828A>T c.(4828-4830)Aat>Tat p.N1610Y BRWD1_ENST00000333229.2_Missense_Mutation_p.N1610Y|BRWD1_ENST00000380800.3_Missense_Mutation_p.N1610Y NM_033656.3 NP_387505.1 Q9NSI6 BRWD1_HUMAN bromodomain and WD repeat domain containing 1 1610 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2) 58 Prostate(19;8.44e-08)|all_epithelial(19;0.223) TCCAATGAATTGTTATCAGAA 0.373000 OREG0003861 type=REGULATORY REGION|Gene=BRWD1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 35 787 0 0 1 0 0 TICRR 90381 broad.mit.edu 37 15 90150053 90150053 + Nonsense_Mutation SNP C C T TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr15:90150053C>T ENST00000268138.7 + 14 2824 c.2719C>T c.(2719-2721)Caa>Taa p.Q907* TICRR_ENST00000560985.1_Nonsense_Mutation_p.Q906* TOPBP1-interacting checkpoint and replication regulator AGATACAGTGCAAGGTATACT 0.368000 26 316 0 0 1 0 0 THBS1 7057 broad.mit.edu 37 15 39876541 39876541 + Missense_Mutation SNP C C T TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr15:39876541C>T ENST00000260356.5 + 6 1109 c.944C>T c.(943-945)cCt>cTt p.P315L NM_003246.2 NP_003237.2 P07996 TSP1_HUMAN thrombospondin 1 315 activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223) GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105) Becaplermin(DB00102) CTGAGGCGGCCTCCCCTATGC 0.483000 47 242 0 0 1 0 0 SIDT1 54847 broad.mit.edu 37 3 113320452 113320452 + Missense_Mutation SNP G G C rs138220562 TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr3:113320452G>C ENST00000264852.4 + 11 1789 c.1063G>C c.(1063-1065)Gca>Cca p.A355P SIDT1_ENST00000393830.3_Missense_Mutation_p.A355P NM_017699.2 NP_060169.2 Q9NXL6 SIDT1_HUMAN SID1 transmembrane family, member 1 355 integral to membrane breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 AAATATGGTGGCATCTCATCC 0.413000 10 223 0 0 1 0 0 DHX36 170506 broad.mit.edu 37 3 154032888 154032888 + Missense_Mutation SNP A A C TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr3:154032888A>C ENST00000496811.1 - 3 630 c.550T>G c.(550-552)Tta>Gta p.L184V DHX36_ENST00000544526.1_Missense_Mutation_p.L184V|DHX36_ENST00000329463.5_Missense_Mutation_p.L184V|DHX36_ENST00000308361.6_Missense_Mutation_p.L184V NM_020865.2 NP_065916.2 Q9H2U1 DHX36_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 36 184 cytoplasm|nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1) 35 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) TCTTCCAATAATTTTTGGTCT 0.289000 56 293 0 0 1 0 0 SHROOM4 57477 broad.mit.edu 37 X 50350791 50350791 + Silent SNP T T C TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chrX:50350791T>C ENST00000376020.2 - 6 3376 c.3351A>G c.(3349-3351)gcA>gcG p.A1117A SHROOM4_ENST00000460112.3_Silent_p.A1001A|SHROOM4_ENST00000289292.7_Silent_p.A1117A NM_020717.3 NP_065768.2 Q9ULL8 SHRM4_HUMAN shroom family member 4 1117 actin filament organization|brain development|cell morphogenesis|cognition apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus actin filament binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 52 Ovarian(276;0.236) gctgctgGGCTGCACGAAAGA 0.577000 13 91 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228562337 228562337 + Missense_Mutation SNP A A G TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr1:228562337A>G ENST00000570156.2 + 108 25492 c.25418A>G c.(25417-25419)aAg>aGg p.K8473R OBSCN_ENST00000366707.4_Missense_Mutation_p.K5150R|OBSCN_ENST00000422127.1_Missense_Mutation_p.K7516R NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 7516 apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GCCACCCTCAAGAACTTCCAG 0.622000 67 451 0 0 1 0 0 SYNPO2L 79933 broad.mit.edu 37 10 75407582 75407582 + Missense_Mutation SNP G G C TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr10:75407582G>C ENST00000394810.2 - 4 1977 c.1828C>G c.(1828-1830)Cgc>Ggc p.R610G SYNPO2L_ENST00000372873.4_Missense_Mutation_p.R386G|SYNPO2L_ENST00000372872.4_Intron NM_001114133.1 NP_001107605.1 Q9H987 SYP2L_HUMAN synaptopodin 2-like 610 Pro-rich. cytoplasm|cytoskeleton actin binding breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Prostate(51;0.0112) CGCTGCTCGCGAGCGCTGGGG 0.706000 48 249 0 0 1 0 0 BLCAP 10904 broad.mit.edu 37 20 36147320 36147320 + Missense_Mutation SNP C C G TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr20:36147320C>G ENST00000414542.2 - 3 704 c.257G>C c.(256-258)gGc>gCc p.G86A BLCAP_ENST00000397131.1_Missense_Mutation_p.G86A|BLCAP_ENST00000397137.1_Missense_Mutation_p.G86A|BLCAP_ENST00000467603.1_Intron|BLCAP_ENST00000373537.2_Missense_Mutation_p.G86A|BLCAP_ENST00000397134.1_Missense_Mutation_p.G86A|BLCAP_ENST00000397135.1_Missense_Mutation_p.G86A NM_001167820.1|NM_001167823.1 NP_001161292.1|NP_001161295.1 P62952 BLCAP_HUMAN bladder cancer associated protein 86 apoptosis|cell cycle integral to membrane breast(1)|large_intestine(1)|lung(2)|stomach(1) 5 Myeloproliferative disorder(115;0.00878) CCGTTAGGTGCCCACAACGCC 0.552000 39 240 0 0 1 0 0 TRAF3IP2 10758 broad.mit.edu 37 6 111913040 111913040 + Missense_Mutation SNP G G A TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr6:111913040G>A ENST00000368761.5 - 2 728 c.250C>T c.(250-252)Cgc>Tgc p.R84C TRAF3IP2_ENST00000392556.4_5'UTR|TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2_ENST00000359831.4_Missense_Mutation_p.R84C|TRAF3IP2_ENST00000340026.6_Missense_Mutation_p.R93C NM_001164281.2|NM_147686.3 NP_001157753.1|NP_679211.2 O43734 CIKS_HUMAN TRAF3 interacting protein 2 93 intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade intracellular p.R93C(1) central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1) 18 all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732) ACTTGAGTGCGCAGGCAGGTG 0.557000 5 345 0 0 1 0 0 C1S 716 broad.mit.edu 37 12 7172426 7172426 + Missense_Mutation SNP C C A TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr12:7172426C>A ENST00000406697.1 + 9 1168 c.540C>A c.(538-540)ttC>ttA p.F180L C1S_ENST00000402681.3_Missense_Mutation_p.F13L|C1S_ENST00000360817.5_Missense_Mutation_p.F180L|C1S_ENST00000328916.3_Missense_Mutation_p.F180L P09871 C1S_HUMAN complement component 1, s subcomponent 180 CUB 2. complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 33 Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072) GGGATGTATTCACTGCACTGA 0.428000 72 452 6.30617e-38 7.11277e-38 1 1 0 AC093642.5 0 broad.mit.edu 37 2 243056808 243056808 + RNA SNP T T A rs144220014 by1000genomes TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr2:243056808T>A ENST00000456398.1 + 0 329 ATAGCGAAGATGGAGAAATAC 0.279000 6 188 0 0 1 0 0 SOCS5 0 broad.mit.edu 37 2 46987120 46987120 + Missense_Mutation SNP T T C TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr2:46987120T>C ENST00000306503.5 + 2 1623 c.1451T>C c.(1450-1452)cTg>cCg p.L484P SOCS5_ENST00000394861.2_Missense_Mutation_p.L484P NM_014011.4 NP_054730.1 O75159 SOCS5_HUMAN suppressor of cytokine signaling 5 484 SOCS box. cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2) 22 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) LUSC - Lung squamous cell carcinoma(58;0.114) CCTTTTAGCCTGCAGTATATC 0.398000 93 380 0 0 1 0 0 ITFG3 83986 broad.mit.edu 37 16 313364 313364 + Missense_Mutation SNP A A T TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr16:313364A>T ENST00000399932.3 + 9 1526 c.1075A>T c.(1075-1077)Acg>Tcg p.T359S ITFG3_ENST00000301679.2_Missense_Mutation_p.T359S|ITFG3_ENST00000600536.1_Missense_Mutation_p.T359S|ITFG3_ENST00000450082.2_Missense_Mutation_p.T359S|ITFG3_ENST00000301678.3_Missense_Mutation_p.T359S|ITFG3_ENST00000442458.2_Missense_Mutation_p.T359S Q9H0X4 ITFG3_HUMAN integrin alpha FG-GAP repeat containing 3 359 integral to membrane central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 16 all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13) GCAGGAGCTGACGCCTCGCTG 0.652000 26 236 0 0 1 0 0 LL22NC03-80A10.6 0 broad.mit.edu 37 22 22663260 22663260 + RNA SNP A A G TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr22:22663260A>G ENST00000426066.1 + 0 623 NR_027293.1 CCTCTAAAATATGGGCCTCAT 0.249000 6 75 0 0 1 0 0 PDCD11 22984 broad.mit.edu 37 10 105158241 105158241 + Missense_Mutation SNP G G C TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr10:105158241G>C ENST00000369797.3 + 2 152 c.58G>C c.(58-60)Gag>Cag p.E20Q NM_014976.1 NP_055791.1 Q14690 RRP5_HUMAN programmed cell death 11 20 mRNA processing|rRNA processing nucleolus RNA binding|transcription factor binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 64 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208) CCACAAACCAGAGAAAGCTTT 0.418000 34 172 0 0 1 0 0 TCTE1 202500 broad.mit.edu 37 6 44248064 44248064 + Missense_Mutation SNP G G A TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr6:44248064G>A ENST00000371505.4 - 5 1482 c.1360C>T c.(1360-1362)Cgc>Tgc p.R454C TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371504.1_Missense_Mutation_p.R151C|TCTE1_ENST00000371503.3_Missense_Mutation_p.R151C NM_182539.3 NP_872345.2 Q5JU00 TCTE1_HUMAN t-complex-associated-testis-expressed 1 454 breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 34 Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536) TCTGACAGGCGCAAGTCAAAT 0.582000 49 274 0 0 1 0 0 FAM65A 79567 broad.mit.edu 37 16 67576517 67576517 + Missense_Mutation SNP C C G TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr16:67576517C>G ENST00000540839.3 + 14 2108 c.1888C>G c.(1888-1890)Cat>Gat p.H630D FAM65A_ENST00000428437.2_Missense_Mutation_p.H624D|FAM65A_ENST00000422602.2_Missense_Mutation_p.H630D|FAM65A_ENST00000379312.3_Missense_Mutation_p.H614D|FAM65A_ENST00000042381.4_Missense_Mutation_p.H610D|CTD-2012K14.3_ENST00000563083.1_RNA Q6ZS17 FA65A_HUMAN family with sequence similarity 65, member A 614 Pro-rich. cytoplasm binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 39 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117) AAGCCCTACCCATACCACAGC 0.547000 121 1049 0 0 1 0 0 SLC11A1 6556 broad.mit.edu 37 2 219251895 219251895 + Missense_Mutation SNP G G C TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr2:219251895G>C ENST00000233202.6 + 6 853 c.513G>C c.(511-513)tgG>tgC p.W171C SLC11A1_ENST00000539932.1_Missense_Mutation_p.W53C NM_000578.3 NP_000569.3 P49279 NRAM1_HUMAN solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1 171 activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 19 Renal(207;0.0474) Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TCCCACTCTGGGGTGGCGTCC 0.602000 30 229 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577548 7577548 + Missense_Mutation SNP C C T rs28934575 TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr17:7577548C>T ENST00000420246.2 - 7 865 c.733G>A c.(733-735)Ggc>Agc p.G245S TP53_ENST00000455263.2_Missense_Mutation_p.G245S|TP53_ENST00000445888.2_Missense_Mutation_p.G245S|TP53_ENST00000269305.4_Missense_Mutation_p.G245S|TP53_ENST00000413465.2_Missense_Mutation_p.G245S|TP53_ENST00000359597.4_Missense_Mutation_p.G245S NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 245 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain. G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CGGTTCATGCCGCCCATGCAG 0.577000 G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN) 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 28 201 0 0 1 0 0 FCGBP 8857 broad.mit.edu 37 19 40408807 40408807 + Silent SNP G G A TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr19:40408807G>A ENST00000221347.6 - 8 4039 c.4032C>T c.(4030-4032)aaC>aaT p.N1344N NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 1344 VWFD 3. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) GGATCTGGCCGTTGGCCAGCA 0.587000 19 114 0 0 1 0 0 ENTPD8 377841 broad.mit.edu 37 9 140330612 140330612 + Silent SNP G G T TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr9:140330612G>T ENST00000371506.2 - 7 1086 c.903C>A c.(901-903)ctC>ctA p.L301L ENTPD8_ENST00000344119.2_Silent_p.L301L|ENTPD8_ENST00000472938.1_Silent_p.L301L NM_001033113.1 NP_001028285.1 Q5MY95 ENTP8_HUMAN ectonucleoside triphosphate diphosphohydrolase 8 301 integral to membrane|plasma membrane ATP binding biliary_tract(1)|lung(4)|prostate(1)|skin(1) 7 all_cancers(76;0.0926) OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898) GGTTCTGGGGGAGGCTCAGCG 0.642000 38 220 9.14704e-12 9.80401e-12 1 1 0 DAPP1 27071 broad.mit.edu 37 4 100784951 100784951 + Missense_Mutation SNP G G C TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr4:100784951G>C ENST00000296414.7 + 7 706 c.625G>C c.(625-627)Gac>Cac p.D209H DAPP1_ENST00000512369.1_Missense_Mutation_p.D209H Q9UN19 DAPP1_HUMAN dual adaptor of phosphotyrosine and 3-phosphoinositides 209 PH. signal transduction cytoplasm|plasma membrane phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein tyrosine phosphatase activity endometrium(1)|kidney(1)|lung(4) 6 OV - Ovarian serous cystadenocarcinoma(123;7.04e-09) TCGGATCCTAGACCTAACAGA 0.303000 15 76 0 0 1 0 0 PHOSPHO1 0 broad.mit.edu 37 17 47301945 47301945 + Missense_Mutation SNP C C A TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr17:47301945C>A ENST00000413580.1 - 3 959 c.542G>T c.(541-543)gGa>gTa p.G181V PHOSPHO1_ENST00000514112.1_Missense_Mutation_p.G181V|PHOSPHO1_ENST00000310544.4_Missense_Mutation_p.G156V NM_001143804.1|NM_178500.3 NP_001137276.1|NP_848595.1 Q8TCT1 PHOP1_HUMAN phosphatase, orphan 1 156 regulation of bone mineralization metal ion binding|phosphoethanolamine/phosphocholine phosphatase activity Epithelial(5;8.1e-06)|all cancers(6;7.71e-05) Choline(DB00122) AGCCAGCAGTCCCCGCGCATC 0.701000 7 26 5.18039e-06 5.34572e-06 1 1 0 MIR548I1 0 broad.mit.edu 37 3 125509346 125509346 + RNA SNP G G A TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr3:125509346G>A ENST00000408810.1 - 0 49 NR_031687.1 ggcaaaatccgcaattacttt 0.398000 5 323 0 0 1 0 0 AMPH 273 broad.mit.edu 37 7 38502605 38502605 + Silent SNP G G A TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr7:38502605G>A ENST00000356264.2 - 10 1073 c.858C>T c.(856-858)ccC>ccT p.P286P AMPH_ENST00000428293.2_Silent_p.P286P|AMPH_ENST00000325590.5_Silent_p.P286P NM_001635.3 NP_001626.1 P49418 AMPH_HUMAN amphiphysin 286 endocytosis|synaptic transmission actin cytoskeleton|cell junction|synaptic vesicle membrane breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2) 62 GTGCTGGTGCGGGAGACGCAG 0.547000 66 370 0 0 1 0 0 TNFAIP3 7128 broad.mit.edu 37 6 138202266 138202266 + Missense_Mutation SNP G G A TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr6:138202266G>A ENST00000237289.4 + 9 2249 c.2183G>A c.(2182-2184)cGc>cAc p.R728H NM_001270507.1|NM_001270508.1|NM_006290.3 NP_001257436.1|NP_001257437.1|NP_006281.1 P21580 TNAP3_HUMAN tumor necrosis factor, alpha-induced protein 3 728 Interaction with NAF1 (By similarity). anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide centrosome|cytosol|nucleus caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding p.0?(25) breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 225 Breast(32;0.135)|Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468) CTGGCCTGCCGCAGCGAGGAG 0.657000 """D, N, F""" """marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma""" 6 372 0 0 1 0 0 FBXL12 54850 broad.mit.edu 37 19 9921950 9921950 + Silent SNP G G A TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr19:9921950G>A ENST00000247977.4 - 3 844 c.603C>T c.(601-603)ctC>ctT p.L201L FBXL12_ENST00000588922.1_3'UTR|FBXL12_ENST00000589626.1_3'UTR|FBXL12_ENST00000585379.1_Silent_p.L148L|FBXL12_ENST00000591009.1_Silent_p.L148L|FBXL12_ENST00000586651.1_3'UTR NM_017703.1 NP_060173.1 Q9NXK8 FXL12_HUMAN F-box and leucine-rich repeat protein 12 201 protein binding endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(2) 10 GCAGATAGCTGAGCTCCTGCA 0.667000 30 166 0 0 1 0 0 MAP3K9 4293 broad.mit.edu 37 14 71200060 71200060 + Splice_Site SNP C C G TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr14:71200060C>G ENST00000554752.2 - 11 2026 c.e11-1 MAP3K9_ENST00000381250.4_Splice_Site|MAP3K9_ENST00000553414.1_Splice_Site|MAP3K9_ENST00000554146.1_Splice_Site|MAP3K9_ENST00000555993.2_Splice_Site P80192 M3K9_HUMAN mitogen-activated protein kinase kinase kinase 9 activation of JUN kinase activity|protein autophosphorylation ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2) 46 all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08) tcctcatcctctgtgaagatg 0.542000 11 68 0 0 1 0 0 DRD1 1812 broad.mit.edu 37 5 174869707 174869707 + Missense_Mutation SNP C C G TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr5:174869707C>G ENST00000393752.2 - 2 1388 c.396G>C c.(394-396)gaG>gaC p.E132D NM_000794.3 NP_000785.1 P21728 DRD1_HUMAN dopamine receptor D1 132 activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning endoplasmic reticulum membrane|membrane fraction protein binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104) Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624) TCATCTTTCTCTCATACCGGA 0.542000 57 298 0 0 1 0 0 CTD-2620I22.1 0 broad.mit.edu 37 19 53472914 53472914 + RNA SNP A A G TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr19:53472914A>G ENST00000600068.1 - 0 489 ZNF702P_ENST00000270443.4_RNA TTTGATTTTCAATTAAAAACC 0.338000 7 184 0 0 1 0 0 FAM114A1 92689 broad.mit.edu 37 4 38933133 38933133 + Missense_Mutation SNP C C T TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr4:38933133C>T ENST00000358869.2 + 11 1399 c.1223C>T c.(1222-1224)gCa>gTa p.A408V FAM114A1_ENST00000515037.1_Missense_Mutation_p.A201V NM_138389.2 NP_612398.2 Q8IWE2 NXP20_HUMAN family with sequence similarity 114, member A1 408 cytoplasm haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 20 GTAGATGTGGCAAAAGTGTCC 0.453000 8 183 0 0 1 0 0 THRAP3 9967 broad.mit.edu 37 1 36752630 36752630 + Missense_Mutation SNP C C T TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr1:36752630C>T ENST00000354618.5 + 4 1023 c.799C>T c.(799-801)Cct>Tct p.P267S THRAP3_ENST00000469141.2_Missense_Mutation_p.P267S NM_005119.3 NP_005110.2 Q9Y2W1 TR150_HUMAN thyroid hormone receptor associated protein 3 267 Ser-rich. androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1) 37 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) GTCACCCCGTCCTAGCCCCGT 0.617000 T USP6 aneurysmal bone cysts 90 387 0 0 1 0 0 DIDO1 11083 broad.mit.edu 37 20 61512310 61512310 + Silent SNP G G T TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr20:61512310G>T ENST00000266070.4 - 16 5323 c.4998C>A c.(4996-4998)ggC>ggA p.G1666G DIDO1_ENST00000395343.1_Silent_p.G1666G NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 1666 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) GCTGCAGGGCGCCGCAAGGCG 0.726000 35 99 4.31634e-10 4.60093e-10 1 1 0 SCN5A 6331 broad.mit.edu 37 3 38671831 38671831 + Silent SNP C C G TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr3:38671831C>G ENST00000413689.1 - 3 556 c.363G>C c.(361-363)cgG>cgC p.R121R SCN5A_ENST00000414099.2_Silent_p.R121R|SCN5A_ENST00000425664.1_Silent_p.R121R|SCN5A_ENST00000451551.2_Silent_p.R121R|SCN5A_ENST00000455624.2_Silent_p.R121R|SCN5A_ENST00000449557.2_Silent_p.R121R|SCN5A_ENST00000423572.2_Silent_p.R121R|SCN5A_ENST00000443581.1_Silent_p.R121R|SCN5A_ENST00000333535.4_Silent_p.R121R|SCN5A_ENST00000450102.2_Silent_p.R121R NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 121 blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction sarcolemma|voltage-gated sodium channel complex protein binding|voltage-gated sodium channel activity NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4) 107 Medulloblastoma(35;0.163) KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1) Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661) CAGCCGCTCTCCGGATGGGGT 0.557000 46 305 0 0 1 0 0 CLCC1 23155 broad.mit.edu 37 1 109477302 109477302 + Missense_Mutation SNP G G A TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr1:109477302G>A ENST00000369971.2 - 11 1775 c.1646C>T c.(1645-1647)cCc>cTc p.P549L CLCC1_ENST00000482889.1_Intron|AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000415331.1_Missense_Mutation_p.P499L|CLCC1_ENST00000302500.4_Missense_Mutation_p.P428L|CLCC1_ENST00000369968.2_Missense_Mutation_p.P364L|CLCC1_ENST00000369970.3_Missense_Mutation_p.P499L|CLCC1_ENST00000369976.1_Intron|CLCC1_ENST00000356970.2_Missense_Mutation_p.P549L|CLCC1_ENST00000369969.2_Missense_Mutation_p.P428L|CLCC1_ENST00000348264.2_Missense_Mutation_p.P364L NM_001048210.1 NP_001041675.1 Q96S66 CLCC1_HUMAN chloride channel CLIC-like 1 549 endoplasmic reticulum|Golgi apparatus|integral to membrane|nucleus autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1) 14 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626) Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231) CTAGCCACAGGGGCTGCTGAC 0.547000 56 326 0 0 1 0 0 TLN1 7094 broad.mit.edu 37 9 35700280 35700280 + Missense_Mutation SNP C C T TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr9:35700280C>T ENST00000314888.9 - 49 6921 c.6568G>A c.(6568-6570)Gtt>Att p.V2190I TLN1_ENST00000540444.1_Missense_Mutation_p.V2078I NM_006289.3 NP_006280.3 Q9Y490 TLN1_HUMAN talin 1 2190 axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6) 85 all_epithelial(49;0.167) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) CCAGCAGCAACGGCCTTGGCG 0.547000 16 352 0 0 1 0 0 ARHGAP31 57514 broad.mit.edu 37 3 119121031 119121031 + Missense_Mutation SNP C C T TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr3:119121031C>T ENST00000264245.4 + 10 1964 c.1432C>T c.(1432-1434)Cgt>Tgt p.R478C NM_020754.2 NP_065805.2 Q2M1Z3 RHG31_HUMAN Rho GTPase activating protein 31 478 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion|lamellipodium GTPase activator activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 67 GCCCTCGCCGCGTAACCAGCG 0.587000 65 369 0 0 1 0 0 TMEM214 54867 broad.mit.edu 37 2 27261588 27261588 + Missense_Mutation SNP G G C TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr2:27261588G>C ENST00000238788.9 + 12 1374 c.1312G>C c.(1312-1314)Gaa>Caa p.E438Q TMEM214_ENST00000404032.3_Missense_Mutation_p.E393Q NM_017727.4 NP_060197.4 Q6NUQ4 TM214_HUMAN transmembrane protein 214 438 integral to membrane protein binding kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2) 18 GTCTTTGCAAGAAACCATTCA 0.512000 9 99 0 0 1 0 0 CCDC148 130940 broad.mit.edu 37 2 159077147 159077147 + Nonsense_Mutation SNP T T A TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr2:159077147T>A ENST00000283233.5 - 11 1643 c.1330A>T c.(1330-1332)Aag>Tag p.K444* CCDC148-AS1_ENST00000412781.2_RNA|CCDC148_ENST00000409187.1_Nonsense_Mutation_p.K453* NM_138803.3 NP_620158.3 Q8NFR7 CC148_HUMAN coiled-coil domain containing 148 444 endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 23 ATTAATTTCTTCAGTTCTTCT 0.328000 41 314 0 0 1 0 0 GGT3P 0 broad.mit.edu 37 22 18769259 18769259 + RNA SNP A A C TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr22:18769259A>C ENST00000412448.1 - 0 1027 AGAACACCTCACTGGGGCAGA 0.652000 9 220 0 0 1 0 0 PPARGC1B 133522 broad.mit.edu 37 5 149216585 149216585 + Missense_Mutation SNP C C G TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr5:149216585C>G ENST00000309241.5 + 8 2599 c.2567C>G c.(2566-2568)tCt>tGt p.S856C PPARGC1B_ENST00000403750.1_Missense_Mutation_p.S792C|PPARGC1B_ENST00000394320.3_Missense_Mutation_p.S856C|PPARGC1B_ENST00000360453.4_Missense_Mutation_p.S817C NM_133263.3 NP_573570.3 Q86YN6 PRGC2_HUMAN peroxisome proliferator-activated receptor gamma, coactivator 1 beta 856 estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter mediator complex AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1) 30 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) CGCTCAAGCTCTGGCTCTTCA 0.637000 61 414 0 0 1 0 0 CAPN5 726 broad.mit.edu 37 11 76833726 76833726 + Missense_Mutation SNP C C T TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr11:76833726C>T ENST00000278559.3 + 12 1897 c.1708C>T c.(1708-1710)Cgc>Tgc p.R570C CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Missense_Mutation_p.R570C|CAPN5_ENST00000456580.2_Missense_Mutation_p.R610C NM_004055.4 NP_004046.2 O15484 CAN5_HUMAN calpain 5 570 C2. proteolysis|signal transduction intracellular calcium-dependent cysteine-type endopeptidase activity NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1) 30 CATCTTCTACCGCAAGAAGCT 0.567000 30 189 0 0 1 0 0 ARHGAP21 57584 broad.mit.edu 37 10 24908567 24908567 + Missense_Mutation SNP G G A TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr10:24908567G>A ENST00000396432.2 - 9 2743 c.2257C>T c.(2257-2259)Cat>Tat p.H753Y ARHGAP21_ENST00000320481.6_Missense_Mutation_p.H540Y NM_020824.3 NP_065875.3 Q5T5U3 RHG21_HUMAN Rho GTPase activating protein 21 752 signal transduction cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane GTPase activator activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1) 78 TAAGACTGATGCCTTAAAGGC 0.473000 75 480 0 0 1 0 0 RP11-423O2.5 0 broad.mit.edu 37 1 142803672 142803672 + RNA SNP G G T TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr1:142803672G>T ENST00000423385.1 - 0 1293 tatgttctatgcatttatcat 0.308000 5 188 2.17888e-05 2.23652e-05 1 1 0 UBASH3B 84959 broad.mit.edu 37 11 122667631 122667631 + Missense_Mutation SNP G G A TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr11:122667631G>A ENST00000284273.5 + 9 1622 c.1247G>A c.(1246-1248)cGc>cAc p.R416H NM_032873.4 NP_116262.2 Q8TF42 UBS3B_HUMAN ubiquitin associated and SH3 domain containing B 416 Protein tyrosine phosphatase (By similarity). cytoplasm|nucleus protein tyrosine phosphatase activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2) 26 Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104) BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463) CGCTACATACGCACCAACCTG 0.473000 73 277 0 0 1 0 0 MFSD7 84179 broad.mit.edu 37 4 678335 678335 + Missense_Mutation SNP G G C TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr4:678335G>C ENST00000322224.4 - 6 1090 c.777C>G c.(775-777)atC>atG p.I259M MFSD7_ENST00000347950.5_Missense_Mutation_p.I141M|MFSD7_ENST00000404286.2_Missense_Mutation_p.I260M|MFSD7_ENST00000503156.1_Missense_Mutation_p.I195M|MFSD7_ENST00000515118.1_Missense_Mutation_p.I163M Q6UXD7 MFSD7_HUMAN major facilitator superfamily domain containing 7 260 transmembrane transport integral to membrane cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 11 CAGAGATCCCGATCATTCCCC 0.642000 OREG0016025 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 73 423 0 0 1 0 0 RNF111 54778 broad.mit.edu 37 15 59359283 59359283 + Splice_Site SNP G G C TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr15:59359283G>C ENST00000348370.4 + 6 2119 c.e6+1 RNF111_ENST00000434298.1_Splice_Site|RNF111_ENST00000557998.1_Splice_Site|RNF111_ENST00000561186.1_Splice_Site|RNF111_ENST00000559209.1_Splice_Site NM_001270528.1|NM_001270529.1|NM_017610.7 NP_001257457.1|NP_001257458.1|NP_060080.6 Q6ZNA4 RN111_HUMAN ring finger protein 111 multicellular organismal development|positive regulation of transcription, DNA-dependent cytoplasm|nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all cancers(107;0.194) TCATGAACAGGTATGTGGAAT 0.468000 43 220 0 0 1 0 0 ZNF746 155061 broad.mit.edu 37 7 149171720 149171720 + Missense_Mutation SNP G G A TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr7:149171720G>A ENST00000340622.3 - 7 1970 c.1690C>T c.(1690-1692)Cgg>Tgg p.R564W ZNF746_ENST00000458143.2_Missense_Mutation_p.R565W Q6NUN9 ZN746_HUMAN zinc finger protein 746 564 negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent cytoplasm|nucleus transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 Melanoma(164;0.165) OV - Ovarian serous cystadenocarcinoma(82;0.00358) GTGAAGGGCCGCACGCCCGTG 0.672000 9 100 0 0 1 0 0 SLC25A53 401612 broad.mit.edu 37 X 103349565 103349565 + Missense_Mutation SNP C C T rs112530678 byFrequency TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chrX:103349565C>T ENST00000357421.4 - 2 556 c.376G>A c.(376-378)Gtg>Atg p.V126M NM_001012755.3 NP_001012773.2 Q5H9E4 MCAR6_HUMAN solute carrier family 25, member 53 126 transport integral to membrane|mitochondrial inner membrane GCCTCCACCACGCCAGACATG 0.582000 23 306 0 0 1 0 0 LAMB3 3914 broad.mit.edu 37 1 209799171 209799171 + Missense_Mutation SNP C C G rs35794952 TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr1:209799171C>G ENST00000391911.1 - 13 2187 c.1798G>C c.(1798-1800)Ggt>Cgt p.G600R LAMB3_ENST00000367030.3_Missense_Mutation_p.G600R|LAMB3_ENST00000356082.4_Missense_Mutation_p.G600R NM_001017402.1 NP_001017402.1 Q13751 LAMB3_HUMAN laminin, beta 3 600 Domain II. cell adhesion|epidermis development|hemidesmosome assembly structural molecule activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 OV - Ovarian serous cystadenocarcinoma(81;0.0519) CGGAGTCTACCAAAGCGCAGG 0.632000 29 164 0 0 1 0 0 DEFB135 613209 broad.mit.edu 37 8 11841997 11841997 + Silent SNP C C T TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr8:11841997C>T ENST00000382208.2 + 2 132 c.132C>T c.(130-132)tgC>tgT p.C44C NM_001033017.2 NP_001028189.2 Q30KP9 DB135_HUMAN defensin, beta 135 44 defense response to bacterium extracellular region endometrium(1)|large_intestine(2)|prostate(1) 4 AAGGTACTTGCCGGCCAAAAT 0.373000 5 307 0 0 1 0 0 TRAIP 10293 broad.mit.edu 37 3 49867474 49867474 + Silent SNP C C T TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr3:49867474C>T ENST00000331456.2 - 12 1178 c.1065G>A c.(1063-1065)aaG>aaA p.K355K TRAIP_ENST00000469027.1_Silent_p.K200K NM_005879.2 NP_005870.2 Q9BWF2 TRAIP_HUMAN TRAF interacting protein 355 Interaction with CYLD. cell proliferation|induction of apoptosis perinuclear region of cytoplasm protein binding|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 24 BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CTTTGCATATCTTCTTGGGGA 0.532000 8 494 0 0 1 0 0 KRTAP10-9 386676 broad.mit.edu 37 21 46047922 46047922 + Silent SNP C C T TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr21:46047922C>T ENST00000397911.3 + 1 883 c.834C>T c.(832-834)cgC>cgT p.R278R KRTAP10-9_ENST00000484861.1_Intron|TSPEAR_ENST00000323084.4_Intron NM_198690.2 NP_941963.2 P60411 KR109_HUMAN keratin associated protein 10-9 278 keratin filament endometrium(1)|kidney(1)|large_intestine(1)|lung(6) 9 TGTGCTCCCGCCCGGCCTGCT 0.692000 58 335 0 0 1 0 0 WBP7 0 broad.mit.edu 37 19 36220898 36220898 + Missense_Mutation SNP A A G TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr19:36220898A>G ENST00000420124.1 + 23 4948 c.4948A>G c.(4948-4950)Acg>Gcg p.T1650A KMT2B_ENST00000607650.1_RNA|WBP7_ENST00000222270.7_Missense_Mutation_p.T1650A GCCTGGCGCCACGGTGGGCTG 0.642000 17 124 0 0 1 0 0 POP1 10940 broad.mit.edu 37 8 99170241 99170241 + Silent SNP G G T TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr8:99170241G>T ENST00000401707.2 + 16 2898 c.2817G>T c.(2815-2817)ggG>ggT p.G939G POP1_ENST00000349693.3_Silent_p.G939G NM_001145860.1|NM_001145861.1 NP_001139332.1|NP_001139333.1 Q99575 POP1_HUMAN processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae) 939 tRNA 5'-leader removal|tRNA catabolic process nucleolar ribonuclease P complex|ribonuclease MRP complex identical protein binding|ribonuclease MRP activity|ribonuclease P activity autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 Breast(36;1.78e-06) OV - Ovarian serous cystadenocarcinoma(57;0.145) CCGTGGCTGGGCAGGAAGCTC 0.572000 9 532 0.000442599 0.000451917 1 1 0 RANGAP1 5905 broad.mit.edu 37 22 41650402 41650402 + Silent SNP C C T TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr22:41650402C>T ENST00000455915.2 - 10 2639 c.1170G>A c.(1168-1170)gaG>gaA p.E390E RANGAP1_ENST00000407260.4_Silent_p.E335E|RANGAP1_ENST00000405486.1_Silent_p.E390E|RANGAP1_ENST00000356244.3_Silent_p.E390E P46060 RAGP1_HUMAN Ran GTPase activating protein 1 390 Asp/Glu-rich (highly acidic). mitotic prometaphase|signal transduction condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole protein binding|Ran GTPase activator activity p.E390E(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 cctcctcctcctcttcttcct 0.562000 5 229 0 0 1 0 0 CACNG2 10369 broad.mit.edu 37 22 36962506 36962506 + Silent SNP C C A TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr22:36962506C>A ENST00000300105.6 - 3 1311 c.330G>T c.(328-330)ctG>ctT p.L110L NM_006078.3 NP_006069.1 Q9Y698 CCG2_HUMAN calcium channel, voltage-dependent, gamma subunit 2 110 membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex protein binding|voltage-gated calcium channel activity breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1) 18 GAATCACACTCAGGATTGGGA 0.552000 40 233 4.67007e-22 5.14769e-22 1 1 0 SLC11A1 6556 broad.mit.edu 37 2 219251897 219251897 + Missense_Mutation SNP G G T TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr2:219251897G>T ENST00000233202.6 + 6 855 c.515G>T c.(514-516)gGt>gTt p.G172V SLC11A1_ENST00000539932.1_Missense_Mutation_p.G54V NM_000578.3 NP_000569.3 P49279 NRAM1_HUMAN solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1 172 activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 19 Renal(207;0.0474) Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CCACTCTGGGGTGGCGTCCTC 0.602000 29 234 3.67414e-24 4.07305e-24 1 1 0 DPP10 57628 broad.mit.edu 37 2 116510788 116510788 + Missense_Mutation SNP C C A TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr2:116510788C>A ENST00000410059.1 + 11 1469 c.989C>A c.(988-990)aCc>aAc p.T330N DPP10_ENST00000409163.1_Missense_Mutation_p.T280N|DPP10_ENST00000393147.2_Missense_Mutation_p.T334N|DPP10_ENST00000310323.8_Missense_Mutation_p.T323N NM_001178037.1|NM_020868.3 NP_001171508.1|NP_065919.2 Q8N608 DPP10_HUMAN dipeptidyl-peptidase 10 (non-functional) 330 proteolysis integral to membrane|membrane fraction serine-type peptidase activity breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1) 101 GTAAGCAATACCAAGACTGTG 0.363000 37 255 3.62531e-18 3.9735e-18 1 1 0 SMTNL1 219537 broad.mit.edu 37 11 57311123 57311123 + Silent SNP G G A TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr11:57311123G>A ENST00000457912.1 + 3 813 c.813G>A c.(811-813)caG>caA p.Q271Q SMTNL1_ENST00000399154.2_Silent_p.Q216Q|SMTNL1_ENST00000527972.1_Silent_p.Q253Q E9PPJ3 E9PPJ3_HUMAN smoothelin-like 1 253 endometrium(2)|large_intestine(1)|lung(4)|ovary(1) 8 GCGAAGAGCAGGAGCAGGACG 0.607000 12 64 0 0 1 0 0 MRPL20 55052 broad.mit.edu 37 1 1337486 1337486 + Frame_Shift_Del DEL A A - TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr1:1337486delA ENST00000344843.7 - 4 522 c.427delT c.(427-429)ccfs p.S143fs MRPL20_ENST00000493287.1_5'UTR NM_017971.3 NP_060441.2 Q9BYC9 RM20_HUMAN mitochondrial ribosomal protein L20 143 protein binding|rRNA binding endometrium(1)|large_intestine(1)|lung(2)|prostate(1) 5 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) ACCACTCTGGAAAAAATGCCT 0.443 7 1728 --- --- --- --- PLEKHG5 57449 broad.mit.edu 37 1 6536011 6536013 + In_Frame_Del DEL CTC CTC - TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr1:6536011_6536013delCTC ENST00000377748.1 - 4 855_857 c.358_360delGAG c.(358-360)del p.E120del PLEKHG5_ENST00000544978.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000340850.5_In_Frame_Del_p.E43del|PLEKHG5_ENST00000537245.1_In_Frame_Del_p.E122del|PLEKHG5_ENST00000400915.3_In_Frame_Del_p.E99del|PLEKHG5_ENST00000400913.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377732.1_In_Frame_Del_p.E80del|PLEKHG5_ENST00000377725.1_In_Frame_Del_p.E43del|PLEKHG5_ENST00000535355.1_In_Frame_Del_p.E112del|PLEKHG5_ENST00000377737.2_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377728.3_In_Frame_Del_p.E43del|PLEKHG5_ENST00000377740.3_In_Frame_Del_p.E120del NM_198681.3 NP_941374.2 O94827 PKHG5_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 5 99 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|perinuclear region of cytoplasm Rho guanyl-nucleotide exchange factor activity|signal transducer activity liver(1) 1 Ovarian(185;0.02)|all_lung(157;0.154) all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448) Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419) CCACAGAGCTCTCCTCCTCCTCC 0.631 OREG0013041 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 8 480 --- --- --- --- VAMP3 9341 broad.mit.edu 37 1 7838212 7838214 + In_Frame_Del DEL TCA TCA - TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr1:7838212_7838214delTCA ENST00000054666.6 + 4 381_383 c.266_268delTCA c.(265-270)ttc>t p.FI89del VAMP3_ENST00000470357.1_In_Frame_Del_p.FI61del NM_004781.3 NP_004772.1 Q15836 VAMP3_HUMAN vesicle-associated membrane protein 3 89 cellular membrane fusion|positive regulation of receptor recycling|protein complex assembly|protein transport|retrograde transport, endosome to Golgi|substrate adhesion-dependent cell spreading|vesicle docking involved in exocytosis cell junction|clathrin-coated vesicle|integral to membrane|recycling endosome|synapse|synaptosome protein binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3) 6 Ovarian(185;0.0634)|all_lung(157;0.178) all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;6.33e-69)|GBM - Glioblastoma multiforme(8;2.07e-34)|Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.38e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000805)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642) CTGGTTATCTTCATCATCATCAT 0.365 11 1163 --- --- --- --- NDC1 55706 broad.mit.edu 37 1 54298190 54298192 + In_Frame_Del DEL TTA TTA - TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr1:54298190_54298192delTTA ENST00000371429.3 - 3 849_851 c.251_253delTAA c.(250-255)agt>a p.IS84del NDC1_ENST00000540001.1_In_Frame_Del_p.IS84del|NDC1_ENST00000537333.1_5'UTR|NDC1_ENST00000480952.1_5'UTR|NDC1_ENST00000234725.8_5'UTR NM_001168551.1|NM_018087.4 NP_001162023.1|NP_060557.3 NDC1 transmembrane nucleoporin TTGAAAATACTTATTATTATTAT 0.305 7 203 --- --- --- --- JAK1 3716 broad.mit.edu 37 1 65306996 65306997 + Frame_Shift_Ins INS - - T TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr1:65306996_65306997insT ENST00000342505.4 - 19 2828_2829 c.2580_2581insA c.(2578-2583)aacagcfs p.NS860fs NM_002227.2 NP_002218.2 P23458 JAK1_HUMAN Janus kinase 1 860 interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway cytoskeleton|cytosol|endomembrane system|membrane|nucleus ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 BRCA - Breast invasive adenocarcinoma(111;0.0485) TCAGTTGCTGGTTTTTTTTCTG 0.470 Mis ALL 8 721 --- --- --- --- RP11-31F15.2 0 broad.mit.edu 37 1 113607033 113607039 + RNA DEL GCAGGAG GCAGGAG - rs72036287 TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr1:113607033_113607039delGCAGGAG ENST00000421157.1 - 0 167 NR_103777.1 agaggcagaagcaggaggcaggaggca 0.565 4 3 --- --- --- --- NGF 4803 broad.mit.edu 37 1 115828721 115828722 + Frame_Shift_Del DEL CA CA - TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr1:115828721_115828722delCA ENST00000369512.2 - 3 863_864 c.695_696delTG c.(694-696)gfs p.V232fs RP4-663N10.1_ENST00000425449.1_RNA NM_002506.2 NP_002497.2 P01138 NGF_HUMAN nerve growth factor (beta polypeptide) 232 activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction endosome|Golgi lumen growth factor activity|nerve growth factor receptor binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 13 Lung SC(450;0.211) all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179) Clenbuterol(DB01407) TCCTGCTGAGCACACACACACA 0.579 8 413 --- --- --- --- RP11-782C8.1 0 broad.mit.edu 37 1 143217265 143217266 + RNA INS - - A TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr1:143217265_143217266insA ENST00000438000.1 + 0 59 GTTAGTAAAGCAAAAAAAAAAC 0.282 7 49 --- --- --- --- TCHH 7062 broad.mit.edu 37 1 152082957 152082959 + In_Frame_Del DEL CTC CTC - rs143222885 by1000genomes TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr1:152082957_152082959delCTC ENST00000368804.1 - 2 2733_2735 c.2734_2736delGAG c.(2734-2736)del p.E912del NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 912 10 X 30 AA tandem repeats. keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTCTCTGTAGCTCCTCCTCCTCC 0.586 14 950 --- --- --- --- RPTN 126638 broad.mit.edu 37 1 152127845 152127848 + Frame_Shift_Del DEL TGTC TGTC - TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr1:152127845_152127848delTGTC ENST00000316073.3 - 3 1791_1794 c.1727_1730delGACA c.(1726-1731)aafs p.RQ576fs NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin 576 Gln-rich. proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 ACTCTGGCCTTGTCTGTCTGTCTG 0.466 8 2608 --- --- --- --- SLAMF7 57823 broad.mit.edu 37 1 160720196 160720197 + Frame_Shift_Del DEL AG AG - TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr1:160720196_160720197delAG ENST00000368043.3 + 4 789_790 c.752_753delAG c.(751-753)afs p.K251fs SLAMF7_ENST00000359331.4_Frame_Shift_Del_p.K251fs|SLAMF7_ENST00000458104.2_Intron|SLAMF7_ENST00000458602.2_Intron|SLAMF7_ENST00000368042.3_Frame_Shift_Del_p.K144fs|SLAMF7_ENST00000444090.2_Intron|SLAMF7_ENST00000441662.2_Intron NM_021181.3 NP_067004.3 Q9NQ25 SLAF7_HUMAN SLAM family member 7 251 cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity integral to membrane receptor activity breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4) 24 all_cancers(52;2.63e-17)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.0175) TGGTTTCTGAAGAGAGAGAGAC 0.475 9 1005 --- --- --- --- PARP1 142 broad.mit.edu 37 1 226564885 226564886 + Frame_Shift_Ins INS - - T TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr1:226564885_226564886insT ENST00000366794.5 - 13 2007_2008 c.1864_1865insA c.(1864-1866)cggfs p.R622fs NM_001618.3 NP_001609.2 P09874 PARP1_HUMAN poly (ADP-ribose) polymerase 1 622 cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nuclear envelope|nucleolus|transcription factor complex DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2) 44 Breast(184;0.133) GBM - Glioblastoma multiforme(131;0.0531) AGCGTTCCCGGTTTTTTCTTCA 0.475 Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA 7 1519 --- --- --- --- PUM2 23369 broad.mit.edu 37 2 20482977 20482979 + In_Frame_Del DEL GCT GCT - TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr2:20482977_20482979delGCT ENST00000361078.2 - 11 1471_1473 c.1449_1451delAGC c.(1447-1452)gct>gc p.AA483del PUM2_ENST00000403432.1_In_Frame_Del_p.AA483del|PUM2_ENST00000338086.5_In_Frame_Del_p.AA483del|PUM2_ENST00000536417.1_In_Frame_Del_p.AA427del|PUM2_ENST00000319801.5_In_Frame_Del_p.AA483del Q8TB72 PUM2_HUMAN pumilio RNA-binding family member 2 483 Ala-rich. regulation of translation perinuclear region of cytoplasm|stress granule protein binding|RNA binding breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3) 42 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AGTTCCTCCAGCTGCTGCTGCTG 0.424 7 386 --- --- --- --- SLC9A4 389015 broad.mit.edu 37 2 103149137 103149137 + Frame_Shift_Del DEL A A - TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr2:103149137delA ENST00000295269.4 + 12 2844 c.2387delA c.(2386-2388)cafs p.Q796fs NM_001011552.3 NP_001011552.2 Q6AI14 SL9A4_HUMAN solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4 796 regulation of pH apical plasma membrane|basolateral plasma membrane|integral to membrane sodium:hydrogen antiporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 CCTTTGCTCCAAAAAAAATAG 0.473 7 191 --- --- --- --- RGPD8 727851 broad.mit.edu 37 2 113181886 113181887 + Splice_Site INS - - A TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr2:113181886_113181887insA ENST00000302558.3 - 2 264 c.e2-2 RGPD8_ENST00000409750.1_Splice_Site|RGPD8_ENST00000330575.5_Splice_Site NM_001164463.1 NP_001157935.1 RANBP2-like and GRIP domain containing 8 endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1) 10 CATTGACTTCTAAAAAAAAATT 0.252 10 895 --- --- --- --- AC018890.6 0 broad.mit.edu 37 2 175585079 175585079 + RNA DEL A A - TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr2:175585079delA ENST00000442996.1 + 0 217 TTTCATTCTCAAAAAAAAAAA 0.368 OREG0015078 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 33 --- --- --- --- DNAH7 56171 broad.mit.edu 37 2 196788374 196788374 + Frame_Shift_Del DEL T T - rs140194798 TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr2:196788374delT ENST00000312428.6 - 23 3870 c.3770delA c.(3769-3771)atfs p.N1257fs NM_018897.2 NP_061720.2 Q8WXX0 DYH7_HUMAN dynein, axonemal, heavy chain 7 1257 Stem (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|microtubule motor activity NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3) 205 ATCGCTAATATTTTTTTTTAC 0.418 7 448 --- --- --- --- RQCD1 9125 broad.mit.edu 37 2 219449364 219449364 + Frame_Shift_Del DEL T T - TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr2:219449364delT ENST00000273064.6 + 4 725 c.350delT c.(349-351)ctfs p.L117fs RQCD1_ENST00000295701.5_Frame_Shift_Del_p.L117fs|RQCD1_ENST00000542068.1_Frame_Shift_Del_p.L117fs|RQCD1_ENST00000509807.2_Frame_Shift_Del_p.L117fs NM_005444.2 NP_005435.1 Q92600 RCD1_HUMAN RCD1 required for cell differentiation1 homolog (S. pombe) 117 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|sex differentiation|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol|nucleus protein binding endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1) 15 Renal(207;0.0915) Epithelial(149;1.13e-06)|all cancers(144;0.000192)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CACATCCCACTTTTTTTGTAC 0.413 8 1069 --- --- --- --- THRB 7068 broad.mit.edu 37 3 24206519 24206519 + Splice_Site DEL T T - TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr3:24206519delT ENST00000280696.5 - 1 567 c.328_splice c.e1+1 p.K109_splice THRB_ENST00000416420.1_Intron|THRB_ENST00000356447.4_Intron|THRB_ENST00000396671.2_Intron P10828 THB_HUMAN thyroid hormone receptor, beta 94 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3) 19 Levothyroxine(DB00451)|Liothyronine(DB00279) GGTCCCTACCTTTTTTTTGAG 0.353 7 306 --- --- --- --- EAF2 55840 broad.mit.edu 37 3 121573658 121573659 + Frame_Shift_Ins INS - - A TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr3:121573658_121573659insA ENST00000273668.2 + 3 397_398 c.326_327insA c.(325-327)gaafs p.E109fs EAF2_ENST00000451944.2_Frame_Shift_Ins_p.E109fs NM_018456.4 NP_060926.2 Q96CJ1 EAF2_HUMAN ELL associated factor 2 109 apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck protein binding endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1) 9 GBM - Glioblastoma multiforme(114;0.0972) AACATCACTGTAAAAAAAACAA 0.248 7 625 --- --- --- --- FAM194A 131831 broad.mit.edu 37 3 150421591 150421593 + In_Frame_Del DEL TCC TCC - TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr3:150421591_150421593delTCC ENST00000295910.6 - 1 145_147 c.93_95delGGA c.(91-96)gaa>ga p.EE31del RP11-103G8.2_ENST00000471093.1_RNA|FAM194A_ENST00000491361.1_5'UTR NM_152394.3 NP_689607.2 Q7L0X2 F194A_HUMAN family with sequence similarity 194, member A 31 Glu-rich. NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 38 ctccacctcttcctcctcctcct 0.635 7 105 --- --- --- --- PROM1 8842 broad.mit.edu 37 4 15995680 15995680 + Frame_Shift_Del DEL T T - TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr4:15995680delT ENST00000505450.1 - 15 2282 c.1670delA c.(1669-1671)atfs p.N557fs PROM1_ENST00000543373.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000447510.2_Frame_Shift_Del_p.N566fs|PROM1_ENST00000539194.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000510224.1_Frame_Shift_Del_p.N566fs|PROM1_ENST00000508167.1_Frame_Shift_Del_p.N557fs|PROM1_ENST00000540805.1_Frame_Shift_Del_p.N566fs NM_001145848.1 NP_001139320.1 O43490 PROM1_HUMAN prominin 1 566 camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane beta-actinin binding|cadherin binding breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2) 35 AGTGCCTCTATTTTTTTTGCA 0.428 9 456 --- --- --- --- IRX4 50805 broad.mit.edu 37 5 1879669 1879671 + In_Frame_Del DEL CCT CCT - TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr5:1879669_1879671delCCT ENST00000505790.1 - 5 1139_1141 c.683_685delAGG c.(682-687)ggg>g p.EG228del IRX4_ENST00000505938.1_5'UTR|IRX4_ENST00000513692.1_In_Frame_Del_p.EG228del|IRX4_ENST00000231357.2_In_Frame_Del_p.EG228del NM_001278634.1 NP_001265563.1 P78413 IRX4_HUMAN iroquois homeobox 4 228 Poly-Glu. heart development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|lung(7)|ovary(1)|prostate(1) 10 GBM - Glioblastoma multiforme(108;0.242) tcctcgcccccctcctcctcctc 0.685 11 205 --- --- --- --- IK 3550 broad.mit.edu 37 5 140032593 140032594 + Frame_Shift_Del DEL GA GA - TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr5:140032593_140032594delGA ENST00000417647.2 + 5 407_408 c.268_269delGA c.(268-270)gfs p.E90fs IK_ENST00000523672.1_3'UTR NM_006083.3 NP_006074.2 Q13123 RED_HUMAN IK cytokine, down-regulator of HLA II 90 cell-cell signaling|immune response extracellular space|nucleus|soluble fraction large_intestine(1) 1 all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128) KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACAAGAAATTGAGAGAGAGAGA 0.460 7 181 --- --- --- --- ZNF184 7738 broad.mit.edu 37 6 27420810 27420810 + Frame_Shift_Del DEL T T - TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr6:27420810delT ENST00000211936.6 - 6 812 c.528delA c.(526-528)aafs p.K176fs ZNF184_ENST00000377419.1_Frame_Shift_Del_p.K176fs NM_007149.2 NP_009080.2 Q99676 ZN184_HUMAN zinc finger protein 184 176 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 48 TTACAGGGCCTTTTTCCCAAC 0.408 7 1339 --- --- --- --- MED23 9439 broad.mit.edu 37 6 131919846 131919846 + Frame_Shift_Del DEL T T - TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr6:131919846delT ENST00000403834.3 - 19 2467 c.2294delA c.(2293-2295)atfs p.N765fs MED23_ENST00000540546.1_Frame_Shift_Del_p.N765fs|MED23_ENST00000545957.1_Frame_Shift_Del_p.N400fs|MED23_ENST00000368053.4_Frame_Shift_Del_p.N765fs|MED23_ENST00000368068.3_Frame_Shift_Del_p.N759fs|MED23_ENST00000368060.3_Frame_Shift_Del_p.N759fs|MED23_ENST00000354577.4_Frame_Shift_Del_p.N765fs|MED23_ENST00000368058.1_Frame_Shift_Del_p.N765fs Q9ULK4 MED23_HUMAN mediator complex subunit 23 759 regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter transcription factor complex protein binding|transcription coactivator activity p.N759fs*7(1)|p.N765fs*7(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 44 Breast(56;0.0753) GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608) CTCCTCCACATTTTTTTTCAG 0.378 7 562 --- --- --- --- OSBPL3 26031 broad.mit.edu 37 7 24910452 24910453 + Frame_Shift_Del DEL TC TC - TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr7:24910452_24910453delTC ENST00000313367.2 - 5 730_731 c.279_280delGA c.(277-282)gaagfs p.EK93fs OSBPL3_ENST00000409069.1_Frame_Shift_Del_p.EK93fs|OSBPL3_ENST00000352860.1_Frame_Shift_Del_p.EK93fs|OSBPL3_ENST00000353930.1_Frame_Shift_Del_p.EK93fs|OSBPL3_ENST00000431825.2_Frame_Shift_Del_p.EK93fs|OSBPL3_ENST00000396429.1_Frame_Shift_Del_p.EK93fs|OSBPL3_ENST00000396431.1_Frame_Shift_Del_p.EK93fs NM_015550.2 NP_056365.1 Q9H4L5 OSBL3_HUMAN oxysterol binding protein-like 3 93 PH. lipid transport lipid binding|protein binding breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1) 43 CCATGCAGCTTCTCTCTCTCTA 0.500 8 514 --- --- --- --- INTS4L2 0 broad.mit.edu 37 7 65150816 65150816 + RNA DEL A A - TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr7:65150816delA ENST00000430126.2 + 0 757 TTCATCCCTCACCCCCCCCCC 0.463 8 75 --- --- --- --- GTF2IRD2P1 0 broad.mit.edu 37 7 72683455 72683456 + RNA INS - - T TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr7:72683455_72683456insT ENST00000425256.1 - 0 120 NR_002164.1 CGTTCTACCAgtttttttttgt 0.441 10 525 --- --- --- --- ZNF804B 219578 broad.mit.edu 37 7 88956723 88956724 + Frame_Shift_Ins INS - - A TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr7:88956723_88956724insA ENST00000333190.4 + 3 924_925 c.315_316insA c.(313-318)gaaaaafs p.EK105fs NM_181646.2 NP_857597.1 A4D1E1 Z804B_HUMAN zinc finger protein 804B 105 intracellular zinc ion binding NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9) 144 all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151) STAD - Stomach adenocarcinoma(171;0.0513) GGAAAGATGAGAAAAAACAAGA 0.361 HNSCC(36;0.09) 21 573 --- --- --- --- AKAP9 10142 broad.mit.edu 37 7 91671392 91671393 + Frame_Shift_Del DEL AG AG - TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr7:91671392_91671393delAG ENST00000359028.2 + 20 5211_5212 c.4986_4987delAG c.(4984-4989)tcagfs p.SE1662fs AKAP9_ENST00000356239.3_Frame_Shift_Del_p.SE1650fs|AKAP9_ENST00000358100.2_Frame_Shift_Del_p.SE1662fs Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 1662 G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) ACCTGGTTTCAGAGAGAGAGAG 0.411 T BRAF papillary thyroid 9 495 --- --- --- --- DNAJC2 27000 broad.mit.edu 37 7 102964992 102964992 + Frame_Shift_Del DEL T T - TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr7:102964992delT ENST00000379263.3 - 6 840 c.590delA c.(589-591)atfs p.N197fs PMPCB_ENST00000420236.2_Intron|DNAJC2_ENST00000249270.7_Frame_Shift_Del_p.N197fs NM_014377.1 NP_055192.1 Q99543 DNJC2_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 2 197 ZRF1-UBD. 'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nuclear membrane chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1) 21 TTTAGGAACATTTTTTTTATT 0.239 9 776 --- --- --- --- EXOC4 60412 broad.mit.edu 37 7 133160181 133160181 + Frame_Shift_Del DEL T T - TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr7:133160181delT ENST00000253861.4 + 8 1311 c.1282delT c.(1282-1284)ttfs p.F429fs EXOC4_ENST00000393161.2_Frame_Shift_Del_p.F429fs|EXOC4_ENST00000539845.1_Frame_Shift_Del_p.F328fs NM_021807.3 NP_068579.3 Q96A65 EXOC4_HUMAN exocyst complex component 4 429 vesicle docking involved in exocytosis exocyst protein N-terminus binding NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 50 Esophageal squamous(399;0.129) GTTTGCAGCCTTTTTTGCCAA 0.378 7 1191 --- --- --- --- TRBV7-3 0 broad.mit.edu 37 7 142247473 142247474 + RNA DEL AT AT - rs150154096 by1000genomes TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr7:142247473_142247474delAT ENST00000390361.3 - 0 99 acacacacacatacagacacac 0.559 9 929 --- --- --- --- NOM1 64434 broad.mit.edu 37 7 156743209 156743211 + In_Frame_Del DEL GAG GAG - TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr7:156743209_156743211delGAG ENST00000275820.3 + 1 793_795 c.778_780delGAG c.(778-780)del p.E264del NM_138400.1 NP_612409.1 Q5C9Z4 NOM1_HUMAN nucleolar protein with MIF4G domain 1 264 Glu-rich.|Necessary for nucleolar localization and for targeting PPP1CA to the nucleolus. RNA metabolic process nucleolus protein binding endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1) 31 Ovarian(565;0.218) all_hematologic(28;0.0749) OV - Ovarian serous cystadenocarcinoma(82;0.00301) UCEC - Uterine corpus endometrioid carcinoma (81;0.169) ggacgaaagtgaggaggaggagg 0.552 7 300 --- --- --- --- PREX2 80243 broad.mit.edu 37 8 68992720 68992721 + Frame_Shift_Ins INS - - T TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr8:68992720_68992721insT ENST00000288368.4 + 16 1962_1963 c.1685_1686insT c.(1684-1686)cttfs p.L562fs PREX2_ENST00000529398.1_3'UTR NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 562 DEP 2. G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 CTACTTTTCCGTTTTTTTTCGG 0.332 9 428 --- --- --- --- ZHX1 11244 broad.mit.edu 37 8 124266775 124266775 + Frame_Shift_Del DEL T T - TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr8:124266775delT ENST00000395571.3 - 3 2029 c.1412delA c.(1411-1413)agfs p.K471fs ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000522655.1_Frame_Shift_Del_p.K471fs|ZHX1_ENST00000297857.2_Frame_Shift_Del_p.K471fs NM_001017926.2|NM_007222.4 NP_001017926.1|NP_009153.3 Q9UKY1 ZHX1_HUMAN zinc fingers and homeoboxes 1 471 Required for interaction with NFYA. negative regulation of transcription, DNA-dependent nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 29 Lung NSC(37;1.25e-09)|Ovarian(258;0.0154) STAD - Stomach adenocarcinoma(47;0.00527) CTCTTTTGTCTTTTTTGCCCG 0.393 8 1626 --- --- --- --- PTPLAD2 401494 broad.mit.edu 37 9 21007045 21007046 + Frame_Shift_Ins INS - - T TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr9:21007045_21007046insT ENST00000495827.1 - 7 734_735 c.689_690insA c.(688-690)aaafs p.K230fs PTPLAD2_ENST00000513293.2_Frame_Shift_Ins_p.K230fs NM_001010915.3 NP_001010915.2 Q5VWC8 HACD4_HUMAN protein tyrosine phosphatase-like A domain containing 2 230 Poly-Lys. fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane lyase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1) 10 Lung(24;6.02e-14)|LUSC - Lung squamous cell carcinoma(38;1.29e-10) TTCACATCTTCTTTTTTTTAAT 0.371 14 420 --- --- --- --- PTENP1 0 broad.mit.edu 37 9 33675364 33675365 + RNA INS - - A TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr9:33675364_33675365insA ENST00000532280.1 - 0 2132_2133 NR_023917.1 CTATTGCCATTAAAAAAAAAGG 0.322 8 189 --- --- --- --- RTKN2 219790 broad.mit.edu 37 10 63958148 63958149 + Frame_Shift_Ins INS - - T TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr10:63958148_63958149insT ENST00000373789.3 - 12 1444_1445 c.1348_1349insA c.(1348-1350)tgafs p.*450fs RTKN2_ENST00000395265.1_Frame_Shift_Ins_p.*471fs|RTKN2_ENST00000315289.2_Frame_Shift_Ins_p.*252fs NM_145307.2 NP_660350.2 Q8IZC4 RTKN2_HUMAN rhotekin 2 450 signal transduction intracellular p.I450fs*67(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Prostate(12;0.0297)|all_hematologic(501;0.215) TGTCTCTTCAATTTTTTTTTGT 0.337 11 438 --- --- --- --- MKI67 4288 broad.mit.edu 37 10 129906454 129906454 + Frame_Shift_Del DEL T T - TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr10:129906454delT ENST00000368654.3 - 13 4025 c.3650delA c.(3649-3651)agfs p.K1217fs MKI67_ENST00000368653.3_Frame_Shift_Del_p.K857fs NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 1217 16 X 122 AA approximate repeats. cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) AGCCTGGGCCTTTTCCTTAGG 0.483 7 841 --- --- --- --- NUP98 4928 broad.mit.edu 37 11 3720389 3720389 + Frame_Shift_Del DEL T T - TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr11:3720389delT ENST00000324932.7 - 25 4352 c.3932delA c.(3931-3933)acfs p.N1311fs NUP98_ENST00000355260.3_Frame_Shift_Del_p.N1311fs|NUP98_ENST00000359171.4_Frame_Shift_Del_p.N1311fs NM_016320.4|NM_139132.3 NP_057404.2|NP_624358.2 P52948 NUP98_HUMAN nucleoporin 98kDa 1328 carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex protein binding|structural constituent of nuclear pore|transporter activity NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227) BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199) CACAGGGCTGTTTTTTTGGGT 0.512 T """HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11""" AML 8 1147 --- --- --- --- NAV2 89797 broad.mit.edu 37 11 19901475 19901477 + In_Frame_Del DEL AGC AGC - TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr11:19901475_19901477delAGC ENST00000396085.1 + 5 933_935 c.572_574delAGC c.(571-576)aag>a p.KQ191del NAV2_ENST00000349880.4_In_Frame_Del_p.KQ191del|NAV2_ENST00000534229.1_3'UTR|NAV2_ENST00000360655.4_In_Frame_Del_p.KQ127del|NAV2_ENST00000396087.3_In_Frame_Del_p.KQ191del|NAV2_ENST00000527559.2_In_Frame_Del_p.KQ120del|NAV2_ENST00000540292.1_In_Frame_Del_p.KQ122del NM_182964.5 NP_892009.3 Q8IVL1 NAV2_HUMAN neuron navigator 2 191 CH. nucleus ATP binding|helicase activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 116 TCCCGATACAagcagcagcagca 0.611 11 544 --- --- --- --- PHF21A 51317 broad.mit.edu 37 11 46001356 46001358 + In_Frame_Del DEL GTG GTG - TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr11:46001356_46001358delGTG ENST00000257821.4 - 6 936_938 c.313_315delCAC c.(313-315)del p.H105del PHF21A_ENST00000418153.2_In_Frame_Del_p.H105del|PHF21A_ENST00000323180.6_In_Frame_Del_p.H105del NM_001101802.1 NP_001095272.1 Q96BD5 PF21A_HUMAN PHD finger protein 21A 105 Gln-rich. blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent histone deacetylase complex DNA binding|zinc ion binding central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2) 29 actgctgggcgtggtggtggtgg 0.488 8 381 --- --- --- --- CHD4 1108 broad.mit.edu 37 12 6711546 6711546 + Frame_Shift_Del DEL T T - TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr12:6711546delT ENST00000309577.6 - 3 381 c.218delA c.(217-219)agfs p.K73fs CHD4_ENST00000357008.2_Frame_Shift_Del_p.K73fs|CHD4_ENST00000544484.1_Frame_Shift_Del_p.K70fs|CHD4_ENST00000544040.1_Frame_Shift_Del_p.K73fs Q14839 CHD4_HUMAN chromodomain helicase DNA binding protein 4 73 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding central_nervous_system(2) 2 ACTCACCTCCTTTTTTTGGCG 0.468 7 1268 --- --- --- --- OR10A7 121364 broad.mit.edu 37 12 55615114 55615116 + In_Frame_Del DEL CTT CTT - TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr12:55615114_55615116delCTT ENST00000326258.1 + 1 306_308 c.306_308delCTT c.(304-309)tac>ta p.YF102del NM_001005280.1 NP_001005280.1 Q8NGE5 O10A7_HUMAN olfactory receptor, family 10, subfamily A, member 7 102 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3) 24 CCCAGATGTACTTCTTCTTCTTC 0.414 7 1011 --- --- --- --- SART3 9733 broad.mit.edu 37 12 108924046 108924048 + In_Frame_Del DEL TTC TTC - TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr12:108924046_108924048delTTC ENST00000228284.3 - 15 2020_2022 c.1786_1788delGAA c.(1786-1788)del p.E596del SART3_ENST00000431469.2_In_Frame_Del_p.E560del NM_014706.3 NP_055521.1 Q15020 SART3_HUMAN squamous cell carcinoma antigen recognized by T cells 3 596 RNA processing cytoplasm|nuclear speck nucleotide binding|protein binding|RNA binding NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1) 25 GTTCAGCCTTTTCTTCTTCTTGC 0.468 Porokeratosis 7 743 --- --- --- --- PABPC3 5042 broad.mit.edu 37 13 25671333 25671333 + Frame_Shift_Del DEL A A - TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr13:25671333delA ENST00000281589.3 + 1 1034 c.997delA c.(997-999)aafs p.K333fs NM_030979.2 NP_112241.2 Q9H361 PABP3_HUMAN poly(A) binding protein, cytoplasmic 3 333 RRM 4. mRNA metabolic process cytoplasm nucleotide binding|poly(A) RNA binding p.F335fs*19(1) breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3) 47 Lung SC(185;0.0225)|Breast(139;0.0602) all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241) TGGTCGCAGCAAAGGGTTTGG 0.428 8 1512 --- --- --- --- OR11H12 440153 broad.mit.edu 37 14 19377902 19377903 + Frame_Shift_Ins INS - - A TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr14:19377902_19377903insA ENST00000550708.1 + 1 381_382 c.309_310insA c.(307-312)gaaaaafs p.EK103fs NM_001013354.1|NM_001197287.1 NP_001013372.1|NP_001184216.1 B2RN74 O11HC_HUMAN olfactory receptor, family 11, subfamily H, member 12 103 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TCCTTTCAGAGAAAAAAAACAT 0.386 9 728 --- --- --- --- TRAV12-3 0 broad.mit.edu 37 14 22433683 22433684 + RNA INS - - T TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr14:22433683_22433684insT ENST00000390442.3 + 0 4_5 GTTTGTTATTATTTTTTTTTCG 0.351 9 160 --- --- --- --- IPO4 79711 broad.mit.edu 37 14 24655611 24655611 + Frame_Shift_Del DEL A A - TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr14:24655611delA ENST00000354464.6 - 10 1063 c.887delT c.(886-888)tcfs p.F296fs RP11-468E2.2_ENST00000561419.1_3'UTR NM_024658.3 NP_078934.3 Q8TEX9 IPO4_HUMAN importin 4 296 intracellular protein transport cytoplasm|nucleus protein binding|protein transporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1) 33 GBM - Glioblastoma multiforme(265;0.0087) CACAATGGGGAAAAGGGTGTG 0.567 7 830 --- --- --- --- RP1-261D10.2 0 broad.mit.edu 37 14 71787421 71787421 + RNA DEL C C - TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr14:71787421delC ENST00000555771.1 - 0 141 ACCTCCTCATCCCCCCCCCGG 0.706 2 4 --- --- --- --- RPS6KA5 9252 broad.mit.edu 37 14 91366489 91366489 + Frame_Shift_Del DEL T T - TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr14:91366489delT ENST00000261991.3 - 11 1515 c.1342delA c.(1342-1344)gtfs p.S448fs RPS6KA5_ENST00000536315.2_Frame_Shift_Del_p.S369fs|RPS6KA5_ENST00000418736.2_Frame_Shift_Del_p.S448fs NM_004755.2 NP_004746.2 O75582 KS6A5_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 5 448 Protein kinase 2. axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytoplasm|nucleoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2) 24 all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146) Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201) GCTTGGTTACTTTTTTTATGC 0.323 7 696 --- --- --- --- CHEK2P2 0 broad.mit.edu 37 15 20490739 20490739 + RNA DEL G G - rs143465906 TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr15:20490739delG ENST00000555186.1 + 0 568 NR_038836.1 GTTACAACCTGtttttttttt 0.423 12 259 --- --- --- --- WDR90 197335 broad.mit.edu 37 16 709106 709106 + Frame_Shift_Del DEL C C - TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr16:709106delC ENST00000549091.1 + 25 3124 c.3032delC c.(3031-3033)gcfs p.A1011fs WDR90_ENST00000293879.4_Frame_Shift_Del_p.A1011fs NM_145294.4 NP_660337.3 Q96KV7 WDR90_HUMAN WD repeat domain 90 1011 endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 37 Hepatocellular(780;0.0218) TTCCCCGGGGCCCCCCCAGCC 0.657 7 538 --- --- --- --- EME2 197342 broad.mit.edu 37 16 1824298 1824300 + In_Frame_Del DEL TGC TGC - TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr16:1824298_1824300delTGC ENST00000307394.7 + 3 422_424 c.422_424delTGC c.(421-426)ttg>t p.LL143del EME2_ENST00000568449.1_In_Frame_Del_p.LL143del A4GXA9 EME2_HUMAN essential meiotic structure-specific endonuclease subunit 2 143 DNA recombination|DNA repair nucleus DNA binding|endonuclease activity central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1) 9 GAACAGGAATTGCTGCTGCTGCT 0.655 Direct reversal of damage;Homologous recombination 7 652 --- --- --- --- MT1L 4500 broad.mit.edu 37 16 56652490 56652490 + RNA DEL T T - TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr16:56652490delT ENST00000565768.1 + 0 181 NR_001447.2 metallothionein 1L (gene/pseudogene) TCACTCTCCCTTTTCCCCCAG 0.607 7 1056 --- --- --- --- CCDC135 84229 broad.mit.edu 37 16 57731885 57731887 + In_Frame_Del DEL GGA GGA - TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr16:57731885_57731887delGGA ENST00000360716.3 + 3 245_247 c.24_26delGGA c.(22-27)gtg>gt p.VE8del CCDC135_ENST00000336825.8_In_Frame_Del_p.VE8del|CCDC135_ENST00000394337.4_In_Frame_Del_p.VE8del|RP11-405F3.4_ENST00000563062.1_RNA Q8IY82 CC135_HUMAN coiled-coil domain containing 135 8 cytoplasm breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 30 Gggagaaggtggaggaggaggag 0.591 9 368 --- --- --- --- SLC9A5 6553 broad.mit.edu 37 16 67300017 67300019 + In_Frame_Del DEL GAG GAG - TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr16:67300017_67300019delGAG ENST00000299798.11 + 15 2172_2174 c.2107_2109delGAG c.(2107-2109)del p.E708del NM_004594.2 NP_004585.1 Q14940 SL9A5_HUMAN solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5 708 regulation of pH integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1) 27 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116) CGTGGAGTCTGAGGAGGAGGAGG 0.571 8 244 --- --- --- --- ZFP90 146198 broad.mit.edu 37 16 68598462 68598463 + Frame_Shift_Ins INS - - A TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr16:68598462_68598463insA ENST00000570495.1 + 5 2064_2065 c.1772_1773insA c.(1771-1773)caafs p.Q591fs RP11-615I2.7_ENST00000571720.1_RNA|ZFP90_ENST00000563169.2_Frame_Shift_Ins_p.Q591fs|ZFP90_ENST00000398253.2_Frame_Shift_Ins_p.Q591fs Q8TF47 ZFP90_HUMAN ZFP90 zinc finger protein 591 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 27 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946) AGAGCCTTCCGAAAAAAAACCA 0.411 10 1094 --- --- --- --- NFAT5 10725 broad.mit.edu 37 16 69726420 69726422 + In_Frame_Del DEL CAG CAG - TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr16:69726420_69726422delCAG ENST00000349945.1 + 14 3962_3964 c.2410_2412delCAG c.(2410-2412)del p.Q812del NFAT5_ENST00000354436.2_In_Frame_Del_p.Q888del|NFAT5_ENST00000566899.1_In_Frame_Del_p.Q812del|NFAT5_ENST00000393742.2_In_Frame_Del_p.Q812del|NFAT5_ENST00000432919.1_In_Frame_Del_p.Q906del|NFAT5_ENST00000567239.1_In_Frame_Del_p.Q905del NM_138714.3 NP_619728.2 O94916 NFAT5_HUMAN nuclear factor of activated T-cells 5, tonicity-responsive 888 excretion|signal transduction|transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity p.Q804Q(1)|p.Q898Q(1) NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 37 ATCTAATcaacagcagcagcagc 0.473 8 315 --- --- --- --- RP11-863P13.2 0 broad.mit.edu 37 16 88226776 88226778 + RNA DEL GGG GGG - TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr16:88226776_88226778delGGG ENST00000568587.1 - 0 91 tgatggtggtggggatggtggtg 0.596 2 4 --- --- --- --- AFG3L1P 0 broad.mit.edu 37 16 90053778 90053804 + RNA DEL AGGTGGAGGAGGTGGAGGAGGTGGAGG AGGTGGAGGAGGTGGAGGAGGTGGAGG - rs71137692 TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr16:90053778_90053804delAGGTGGAGGAGGTGGAGGAGGTGGAGG ENST00000437774.1 + 0 731 NR_003226.1 CTGCTTGGCCaggtggaggaggtggaggaggtggaggaggtggagga 0.634 5 8 --- --- --- --- MYH10 4628 broad.mit.edu 37 17 8415820 8415822 + In_Frame_Del DEL TTC TTC - TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr17:8415820_8415822delTTC ENST00000360416.3 - 24 3037_3039 c.2899_2901delGAA c.(2899-2901)del p.E967del MYH10_ENST00000396239.1_In_Frame_Del_p.E957del|MYH10_ENST00000379980.4_In_Frame_Del_p.E952del|MYH10_ENST00000269243.4_In_Frame_Del_p.E936del NM_001256012.1 NP_001242941.1 P35580 MYH10_HUMAN myosin, heavy chain 10, non-muscle 936 actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape cell cortex|cleavage furrow|midbody|myosin complex|stress fiber actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1) 52 TTTGGTTTCTTTCTTCTTCTTCT 0.350 12 528 --- --- --- --- WFIKKN2 124857 broad.mit.edu 37 17 48917574 48917580 + Frame_Shift_Del DEL CAGGCTG CAGGCTG - TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr17:48917574_48917580delCAGGCTG ENST00000311378.4 + 2 1453_1459 c.925_931delCAGGCTG c.(925-933)cafs p.QAA309fs RP11-506D12.5_ENST00000572491.2_RNA|WFIKKN2_ENST00000426127.1_Frame_Shift_Del_p.QAA216fs NM_175575.5 NP_783165.1 Q8TEU8 WFKN2_HUMAN WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2 309 extracellular region metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity p.A311S(1) cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1) 29 BRCA - Breast invasive adenocarcinoma(22;1.09e-08) CAGGGGTCATCAGGCTGCAGCCACCTC 0.657 25 273 --- --- --- --- MUC16 94025 broad.mit.edu 37 19 9086442 9086457 + Frame_Shift_Del DEL GCTGGACTCTGTCCTT GCTGGACTCTGTCCTT - TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr19:9086442_9086457delGCTGGACTCTGTCCTT ENST00000397910.4 - 1 5561_5576 c.5358_5373delAAGGACAGAGTCCAGC c.(5356-5373)gcfs p.ARTESS1786fs NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 1786 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GGGTAGCTGAGCTGGACTCTGTCCTTGCTGAAGACT 0.468 31 352 --- --- --- --- LPIN3 64900 broad.mit.edu 37 20 39977298 39977299 + Frame_Shift_Ins INS - - G TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chr20:39977298_39977299insG ENST00000373257.3 + 4 419_420 c.328_329insG c.(328-330)gggfs p.G110fs NM_022896.1 NP_075047.1 Q9BQK8 LPIN3_HUMAN lipin 3 110 fatty acid metabolic process nucleus phosphatidate phosphatase activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 Myeloproliferative disorder(115;0.000739) ACCCATCCCTTGGGGGGGTCTG 0.663 31 180 --- --- --- --- CD99L2 83692 broad.mit.edu 37 X 149984524 149984526 + In_Frame_Del DEL GTG GTG - TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chrX:149984524_149984526delGTG ENST00000370377.3 - 3 273_275 c.156_158delCAC c.(154-159)aca>ac p.TT52del CD99L2_ENST00000437787.2_In_Frame_Del_p.TT52del|CD99L2_ENST00000355149.3_Intron|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000466436.1_Intron NM_001242614.1|NM_031462.3 NP_001229543.1|NP_113650.2 Q8TCZ2 C99L2_HUMAN CD99 molecule-like 2 52 Poly-Thr. cell adhesion cell junction|integral to membrane endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) CCTATTGGTTGTGGTGGTGGTGG 0.552 8 758 --- --- --- --- ZNF185 7739 broad.mit.edu 37 X 152087570 152087572 + In_Frame_Del DEL GAG GAG - TCGA-3A-A9I9-01A-11D-A38G-08 TCGA-3A-A9I9-10A-01D-A38J-08 Untested Somatic Phase_I WXS none Illumina GAIIx a00e940f-6021-454d-be90-a2fdebd8751d 6bf66319-97e4-4169-887d-b861913257f1 g.chrX:152087570_152087572delGAG ENST00000535861.1 + 7 523_525 c.475_477delGAG c.(475-477)del p.E165del ZNF185_ENST00000370268.4_In_Frame_Del_p.E165del|ZNF185_ENST00000539731.1_In_Frame_Del_p.E165del|ZNF185_ENST00000318529.8_In_Frame_Del_p.E30del|ZNF185_ENST00000370270.1_In_Frame_Del_p.E25del|ZNF185_ENST00000324823.6_In_Frame_Del_p.E30del|ZNF185_ENST00000318504.7_In_Frame_Del_p.E165del|ZNF185_ENST00000449285.2_In_Frame_Del_p.E165del NM_001178106.1 NP_001171577.1 O15231 ZN185_HUMAN zinc finger protein 185 (LIM domain) 165 Poly-Glu. cytoplasm|cytoskeleton|focal adhesion zinc ion binding NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3) 12 Acute lymphoblastic leukemia(192;6.56e-05) AGGGGACACCgaggaggaggagg 0.596 7 87 --- --- --- ---