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 TTN 7273 broad.mit.edu 37 2 179595880 179595880 + Missense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr2:179595880C>T ENST00000589042.1 - 60 17736 c.17512G>A c.(17512-17514)Gac>Aac p.D5838N TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D5521N|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.D4594N NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 5521 Ig-like 39. 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) GTGGCTGGGTCTCCTTGGGTG 0.438000 57 127 0 0 1 0 0 ALPPL2 251 broad.mit.edu 37 2 233272653 233272653 + Missense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr2:233272653G>A ENST00000295453.3 + 5 626 c.574G>A c.(574-576)Gac>Aac p.D192N NM_031313.2 NP_112603.2 P10696 PPBN_HUMAN alkaline phosphatase, placental-like 2 192 phosphorylation anchored to membrane|plasma membrane alkaline phosphatase activity|metal ion binding breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1) 13 all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132) Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196) Amifostine(DB01143)|Levamisole(DB00848) CTCGGATGCCGACGTGCCTGC 0.662000 34 87 0 0 1 0 0 CDH17 1015 broad.mit.edu 37 8 95186166 95186166 + Silent SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr8:95186166C>T ENST00000027335.3 - 7 766 c.642G>A c.(640-642)aaG>aaA p.K214K CDH17_ENST00000441892.2_Intron|CDH17_ENST00000450165.2_Silent_p.K214K NM_004063.3 NP_004054.3 Q12864 CAD17_HUMAN cadherin 17, LI cadherin (liver-intestine) 214 Cadherin 2. integral to membrane calcium ion binding NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2) 52 Breast(36;4.65e-06) BRCA - Breast invasive adenocarcinoma(8;0.00691) CTCCCATGTCCTTCACTGAGA 0.448000 32 46 0 0 1 0 0 TCHH 7062 broad.mit.edu 37 1 152084955 152084955 + Nonsense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr1:152084955C>T ENST00000368804.1 - 2 737 c.738G>A c.(736-738)tgG>tgA p.W246* NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 246 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) CGCGCTTCCTCCACTCTTTCT 0.587000 87 166 0 0 1 0 0 GYS2 2998 broad.mit.edu 37 12 21713345 21713345 + Missense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr12:21713345C>T ENST00000261195.2 - 8 1398 c.1144G>A c.(1144-1146)Gga>Aga p.G382R NM_021957.3 NP_068776.2 P54840 GYS2_HUMAN glycogen synthase 2 (liver) 382 glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction glycogen (starch) synthase activity|protein homodimerization activity NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 ACTGCTTGTCCTTTCAGGGTT 0.368000 23 66 0 0 1 0 0 NPIPA1 9284 broad.mit.edu 37 16 15045811 15045811 + Missense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr16:15045811C>T ENST00000328085.6 + 8 982 c.982C>T c.(982-984)Ctc>Ttc p.L328F NPIPA1_ENST00000472413.1_3'UTR NM_006985.2 NP_008916.2 nuclear pore complex interacting protein family, member A1 GGATGATAATCTCAAGACACC 0.473000 13 153 0 0 1 0 0 ITGA9 3680 broad.mit.edu 37 3 37523022 37523022 + Missense_Mutation SNP C C G TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr3:37523022C>G ENST00000264741.5 + 4 724 c.468C>G c.(466-468)atC>atG p.I156M ITGA9_ENST00000422441.1_Missense_Mutation_p.I156M NM_002207.2 NP_002198.2 Q13797 ITA9_HUMAN integrin, alpha 9 156 axon guidance|cell adhesion|integrin-mediated signaling pathway integrin complex receptor activity breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1) 44 KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197) CCGACCACATCCTACCCCATG 0.512000 36 59 0 0 1 0 0 EEA1 8411 broad.mit.edu 37 12 93175731 93175731 + Missense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr12:93175731C>T ENST00000322349.8 - 23 3595 c.3331G>A c.(3331-3333)Gaa>Aaa p.E1111K NM_003566.3 NP_003557.2 Q15075 EEA1_HUMAN early endosome antigen 1 1111 Glu/Lys-rich. early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction 1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3) 36 AATACCTTTTCTTTCTGAATG 0.398000 19 60 0 0 1 0 0 DHTKD1 55526 broad.mit.edu 37 10 12160760 12160760 + Silent SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr10:12160760C>T ENST00000263035.4 + 15 2477 c.2415C>T c.(2413-2415)ctC>ctT p.L805L NM_018706.5 NP_061176.3 Q96HY7 DHTK1_HUMAN dehydrogenase E1 and transketolase domain containing 1 805 glycolysis mitochondrion oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1) 44 Renal(717;0.228) BRCA - Breast invasive adenocarcinoma(52;0.188) TTAAGACCCTCGTGTTCTGCT 0.473000 79 162 0 0 1 0 0 TMEM130 222865 broad.mit.edu 37 7 98460854 98460854 + Missense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr7:98460854C>T ENST00000339375.4 - 2 429 c.255G>A c.(253-255)atG>atA p.M85I TMEM130_ENST00000546258.1_Missense_Mutation_p.M66I|TMEM130_ENST00000450876.1_Start_Codon_SNP_p.M1I|TMEM130_ENST00000345589.4_Intron|TMEM130_ENST00000416379.2_Missense_Mutation_p.M85I NM_001134450.1|NM_152913.2 NP_001127922.1|NP_690877.1 Q8N3G9 TM130_HUMAN transmembrane protein 130 85 Golgi membrane|integral to membrane breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 25 all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) GACCCTTCTCCATCTTGCCAG 0.657000 16 39 0 0 1 0 0 C9 735 broad.mit.edu 37 5 39288923 39288923 + Missense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr5:39288923C>T ENST00000263408.4 - 10 1642 c.1547G>A c.(1546-1548)gGa>gAa p.G516E NM_001737.3 NP_001728.1 P02748 CO9_HUMAN complement component 9 516 EGF-like. complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes extracellular region|membrane attack complex central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 32 all_lung(31;0.000197) all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511) Epithelial(62;0.158) CACTGTACCTCCATTTTGGCA 0.353000 22 64 0 0 1 0 0 MTRR 4552 broad.mit.edu 37 5 7900103 7900103 + Silent SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr5:7900103C>T ENST00000264668.2 + 15 2140 c.2110C>T c.(2110-2112)Cta>Tta p.L704L MTRR_ENST00000440940.2_Silent_p.L677L NM_002454.2|NM_024010.2 NP_002445.2|NP_076915.2 Q9UBK8 MTRR_HUMAN 5-methyltetrahydrofolate-homocysteine methyltransferase reductase 704 methionine biosynthetic process cytosol [methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1) 31 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134) AGTTGAAAAACTAGAAGCAAT 0.343000 36 80 0 0 1 0 0 LRRIQ4 344657 broad.mit.edu 37 3 169540327 169540327 + Silent SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr3:169540327G>A ENST00000340806.6 + 1 618 c.618G>A c.(616-618)gaG>gaA p.E206E NM_001080460.1 NP_001073929.1 A6NIV6 LRIQ4_HUMAN leucine-rich repeats and IQ motif containing 4 206 breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 30 TCCCAGAAGAGATCGGACACC 0.527000 36 116 0 0 1 0 0 SHISA2 387914 broad.mit.edu 37 13 26621161 26621161 + Silent SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr13:26621161G>A ENST00000319420.3 - 2 433 c.378C>T c.(376-378)gtC>gtT p.V126V NM_001007538.1 NP_001007539.1 Q6UWI4 SHSA2_HUMAN shisa family member 2 126 multicellular organismal development endoplasmic reticulum membrane|integral to membrane central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)|skin(1) 17 TGATAAAGGCGACAAACACGG 0.542000 12 35 0 0 1 0 0 HEPHL1 341208 broad.mit.edu 37 11 93815726 93815726 + Missense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr11:93815726G>A ENST00000315765.9 + 10 1867 c.1859G>A c.(1858-1860)cGa>cAa p.R620Q NM_001098672.1 NP_001092142.1 Q6MZM0 HPHL1_HUMAN hephaestin-like 1 620 Plastocyanin-like 4. copper ion transport integral to membrane copper ion binding|oxidoreductase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 61 Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824) AAATCCAACCGAATGCATGGT 0.353000 3 9 0 0 1 0 0 PSD2 84249 broad.mit.edu 37 5 139193050 139193050 + Silent SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr5:139193050C>T ENST00000274710.3 + 3 733 c.528C>T c.(526-528)ttC>ttT p.F176F NM_032289.2 NP_115665.1 Q9BQI7 PSD2_HUMAN pleckstrin and Sec7 domain containing 2 176 regulation of ARF protein signal transduction cytoplasm|integral to membrane ARF guanyl-nucleotide exchange factor activity breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2) 38 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCGTCAGCTTCGAGGCCCCCC 0.657000 22 55 0 0 1 0 0 SLITRK1 114798 broad.mit.edu 37 13 84454420 84454420 + Missense_Mutation SNP T T C TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr13:84454420T>C ENST00000377084.2 - 1 2108 c.1223A>G c.(1222-1224)aAc>aGc p.N408S NM_052910.1 NP_443142.1 Q96PX8 SLIK1_HUMAN SLIT and NTRK-like family, member 1 408 integral to membrane NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 80 Medulloblastoma(90;0.18) Breast(118;0.212) GBM - Glioblastoma multiforme(99;0.07) GATGTTATTGTTGCCCAGATC 0.458000 106 187 0 0 1 0 0 IL18R1 8809 broad.mit.edu 37 2 103001445 103001445 + Missense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr2:103001445G>A ENST00000409599.1 + 8 1152 c.796G>A c.(796-798)Gaa>Aaa p.E266K IL18R1_ENST00000233957.1_Missense_Mutation_p.E266K Q13478 IL18R_HUMAN interleukin 18 receptor 1 266 Ig-like C2-type 3. innate immune response integral to membrane|plasma membrane interleukin-1 receptor activity breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 TGAAGAGAAAGAAATGAGAAT 0.308000 19 30 0 0 1 0 0 STRC 161497 broad.mit.edu 37 15 43893679 43893679 + Missense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr15:43893679C>T ENST00000450892.2 - 24 4693 c.4616G>A c.(4615-4617)gGa>gAa p.G1539E STRC_ENST00000541030.1_Missense_Mutation_p.G766E NM_153700.2 NP_714544.1 Q7RTU9 STRC_HUMAN stereocilin 1539 sensory perception of sound cell surface skin(4) 4 all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.56e-07) TTCCCGATCTCCTAGACCTAT 0.552000 18 17 0 0 1 0 0 GPRASP1 9737 broad.mit.edu 37 X 101911016 101911016 + Nonsense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chrX:101911016G>A ENST00000537097.1 + 6 2988 c.2175G>A c.(2173-2175)tgG>tgA p.W725* GPRASP1_ENST00000361600.5_Nonsense_Mutation_p.W725*|GPRASP1_ENST00000444152.1_Nonsense_Mutation_p.W725*|GPRASP1_ENST00000415986.1_Nonsense_Mutation_p.W725*|RP4-769N13.7_ENST00000602441.1_RNA NM_001184727.1 NP_001171656.1 Q5JY77 GASP1_HUMAN G protein-coupled receptor associated sorting protein 1 725 Glu-rich. cytoplasm protein binding NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 CCTGGTTATGGGCTACAGAAG 0.453000 54 105 0 0 1 0 0 ITPKB 3707 broad.mit.edu 37 1 226924620 226924620 + Silent SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr1:226924620G>A ENST00000429204.1 - 2 867 c.540C>T c.(538-540)ttC>ttT p.F180F ITPKB_ENST00000366784.1_Silent_p.F180F|ITPKB_ENST00000272117.3_Silent_p.F180F NM_002221.3 NP_002212.3 P27987 IP3KB_HUMAN inositol-trisphosphate 3-kinase B 180 ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1) 30 Prostate(94;0.0773) TGCTGCTGCGGAAGGGGCACG 0.672000 35 64 0 0 1 0 0 LPAR3 23566 broad.mit.edu 37 1 85331687 85331687 + Missense_Mutation SNP A A C TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr1:85331687A>C ENST00000440886.1 - 1 155 c.117T>G c.(115-117)ttT>ttG p.F39L LPAR3_ENST00000370611.3_Missense_Mutation_p.F39L|LPAR3_ENST00000491034.1_5'UTR Q9UBY5 LPAR3_HUMAN lysophosphatidic acid receptor 3 39 G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission integral to plasma membrane|intracellular membrane-bounded organelle central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1) 24 ACAGGCAGAAAAACGTCCCAA 0.378000 42 48 0 0 1 0 0 IGKV1OR2-118 339562 broad.mit.edu 37 2 90458637 90458637 + Missense_Mutation SNP A A G TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr2:90458637A>G ENST00000603238.1 + 2 313 c.313A>G c.(313-315)Act>Gct p.105_105insA AGATTTTGCAACTTATTACTG 0.512000 17 848 0 0 1 0 0 FAM194A 131831 broad.mit.edu 37 3 150421589 150421589 + Missense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr3:150421589C>T ENST00000295910.6 - 1 149 c.97G>A c.(97-99)Gag>Aag p.E33K 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 33 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 tcctccacctcttcctcctcc 0.627000 9 31 0 0 1 0 0 F2RL2 2151 broad.mit.edu 37 5 75914174 75914174 + Missense_Mutation SNP A A T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr5:75914174A>T ENST00000296641.4 - 2 561 c.358T>A c.(358-360)Ttc>Atc p.F120I IQGAP2_ENST00000274364.6_Intron|F2RL2_ENST00000504899.1_Missense_Mutation_p.F98I|IQGAP2_ENST00000379730.3_Intron|IQGAP2_ENST00000502745.1_Intron|IQGAP2_ENST00000396234.3_Intron NM_004101.3 NP_004092.1 O00254 PAR3_HUMAN coagulation factor II (thrombin) receptor-like 2 120 platelet activation extracellular region|integral to plasma membrane phosphatidylinositol phospholipase C activity|protein binding|thrombin receptor activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(3) 32 all_lung(232;0.000462)|Lung NSC(167;0.00124)|Prostate(461;0.00955)|Ovarian(174;0.0129) all cancers(79;4.43e-43) GTCCTGAAGAAAAGCATCCAC 0.453000 24 55 0 0 1 0 0 FGFR1 2260 broad.mit.edu 37 8 38275492 38275492 + Missense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr8:38275492G>A ENST00000447712.2 - 11 2389 c.1448C>T c.(1447-1449)cCc>cTc p.P483L FGFR1_ENST00000397103.1_Missense_Mutation_p.P394L|FGFR1_ENST00000397108.4_Missense_Mutation_p.P481L|FGFR1_ENST00000532791.1_Missense_Mutation_p.P481L|FGFR1_ENST00000397091.5_Missense_Mutation_p.P481L|FGFR1_ENST00000397113.2_Missense_Mutation_p.P481L|FGFR1_ENST00000356207.5_Missense_Mutation_p.P394L|FGFR1_ENST00000341462.5_Missense_Mutation_p.P483L|FGFR1_ENST00000335922.5_Missense_Mutation_p.P473L|FGFR1_ENST00000326324.6_Missense_Mutation_p.P392L|FGFR1_ENST00000425967.3_Missense_Mutation_p.P514L NM_001174063.1|NM_015850.3|NM_023110.2 NP_001167534.1|NP_056934.2|NP_075598.2 P11362 FGFR1_HUMAN fibroblast growth factor receptor 1 483 Protein kinase. axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development extracellular region|integral to plasma membrane|membrane fraction ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity FGFR1/ZNF703(2) breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2) 50 all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442) Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065) Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24) Palifermin(DB00039) CTCTCCCAGGGGTTTGCCTAA 0.552000 1 T """BCR, FOP, ZNF198, CEP1""" """MPD, NHL""" """Pfeiffer syndrome, Kallman syndrome""" 23 54 0 0 1 0 0 KCNT2 343450 broad.mit.edu 37 1 196311248 196311248 + Missense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr1:196311248C>T ENST00000367433.5 - 15 1615 c.1514G>A c.(1513-1515)gGa>gAa p.G505E KCNT2_ENST00000367431.4_Intron|KCNT2_ENST00000451324.2_Missense_Mutation_p.G116E|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000294725.8_Missense_Mutation_p.G505E Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 505 RCK N-terminal. voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1) 97 AAAACTCTTTCCTTCATATTC 0.363000 16 23 0 0 1 0 0 SYNE2 23224 broad.mit.edu 37 14 64556386 64556386 + Missense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr14:64556386C>T ENST00000357395.3 + 60 12064 c.920C>T c.(919-921)tCa>tTa p.S307L ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000358025.3_Missense_Mutation_p.S3922L|SYNE2_ENST00000394768.2_Missense_Mutation_p.S307L|SYNE2_ENST00000554584.1_Missense_Mutation_p.S3955L|SYNE2_ENST00000344113.4_Missense_Mutation_p.S3922L|SYNE2_ENST00000555002.1_Missense_Mutation_p.S556L Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 3922 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) TTTGATTTTTCACCTGAAGAA 0.254000 10 26 0 0 1 0 0 NCF4 4689 broad.mit.edu 37 22 37271770 37271770 + Missense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr22:37271770G>A ENST00000397147.4 + 8 887 c.703G>A c.(703-705)Gac>Aac p.D235N NCF4_ENST00000248899.6_Missense_Mutation_p.D235N NM_013416.3 NP_038202.2 Q15080 NCF4_HUMAN neutrophil cytosolic factor 4, 40kDa 235 cell communication|immune response|oxidation-reduction process cytosol|NADPH oxidase complex phosphatidylinositol binding|protein dimerization activity cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 16 TGAGGAGGACGACCCCACCAA 0.597000 34 87 0 0 1 0 0 MSH4 4438 broad.mit.edu 37 1 76355048 76355048 + Missense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr1:76355048G>A ENST00000263187.3 + 16 2324 c.2220G>A c.(2218-2220)atG>atA p.M740I NM_002440.3 NP_002431.2 O15457 MSH4_HUMAN mutS homolog 4 740 chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination synaptonemal complex ATP binding|DNA-dependent ATPase activity|mismatched DNA binding breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 47 TGAAAGAAATGAAAGAGGTAC 0.269000 Mismatch excision repair (MMR) 17 23 0 0 1 0 0 INHBE 83729 broad.mit.edu 37 12 57849380 57849380 + Missense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr12:57849380G>A ENST00000266646.2 + 1 277 c.61G>A c.(61-63)Ggg>Agg p.G21R INHBE_ENST00000551553.1_Intron NM_031479.3 NP_113667.1 P58166 INHBE_HUMAN inhibin, beta E 21 growth extracellular region growth factor activity|hormone activity breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2) 15 GCGAGCACAGGGGACAGGGTC 0.632000 7 29 0 0 1 0 0 MECP2 4204 broad.mit.edu 37 X 153296195 153296195 + Missense_Mutation SNP G G A rs62643611 TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chrX:153296195G>A ENST00000303391.6 - 4 1333 c.1084C>T c.(1084-1086)Ccc>Tcc p.P362S MECP2_ENST00000453960.2_Missense_Mutation_p.P374S NM_004992.3 NP_004983.1 P51608 MECP2_HUMAN methyl CpG binding protein 2 (Rett syndrome) 362 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent heterochromatin|nucleus double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1) 23 all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TCCTTCTTGGGGGGTGAGGAG 0.657000 28 40 0 0 1 0 0 TMEM184A 202915 broad.mit.edu 37 7 1594938 1594938 + Silent SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr7:1594938G>A ENST00000297477.5 - 2 499 c.183C>T c.(181-183)atC>atT p.I61I NM_001097620.1 NP_001091089.1 Q6ZMB5 T184A_HUMAN transmembrane protein 184A 61 integral to membrane endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 12 Ovarian(82;0.0253) UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15) TCCACACGAAGATCCCCGAGA 0.682000 10 35 0 0 1 0 0 NBEA 26960 broad.mit.edu 37 13 35733382 35733382 + Missense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr13:35733382G>A ENST00000540320.1 + 22 3608 c.3074G>A c.(3073-3075)cGa>cAa p.R1025Q NBEA_ENST00000400445.3_Missense_Mutation_p.R1025Q|NBEA_ENST00000379939.2_Missense_Mutation_p.R1025Q|NBEA_ENST00000310336.4_Missense_Mutation_p.R1025Q Q8NFP9 NBEA_HUMAN neurobeachin 1025 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 108 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) ACAGATACTCGAGACTTACTC 0.413000 21 50 0 0 1 0 0 SCN5A 6331 broad.mit.edu 37 3 38648282 38648282 + Missense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr3:38648282G>A ENST00000413689.1 - 9 1211 c.1018C>T c.(1018-1020)Cgg>Tgg p.R340W SCN5A_ENST00000425664.1_Missense_Mutation_p.R340W|SCN5A_ENST00000443581.1_Missense_Mutation_p.R340W|SCN5A_ENST00000414099.2_Missense_Mutation_p.R340W|SCN5A_ENST00000423572.2_Missense_Mutation_p.R340W|SCN5A_ENST00000449557.2_Missense_Mutation_p.R340W|SCN5A_ENST00000450102.2_Missense_Mutation_p.R340W|SCN5A_ENST00000455624.2_Missense_Mutation_p.R340W|SCN5A_ENST00000333535.4_Missense_Mutation_p.R340W|SCN5A_ENST00000451551.2_Missense_Mutation_p.R340W NM_001099404.1|NM_001160160.1 NP_001092874.1|NP_001153632.1 Q14524 SCN5A_HUMAN sodium channel, voltage-gated, type V, alpha subunit 340 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) TTTAGGCACCGGTAGCCCTCC 0.602000 23 37 0 0 1 0 0 KSR2 283455 broad.mit.edu 37 12 118199091 118199091 + Silent SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr12:118199091C>T ENST00000425217.1 - 4 678 c.624G>A c.(622-624)ccG>ccA p.P208P KSR2_ENST00000339824.5_Silent_p.P237P NM_173598.4 NP_775869.3 Q6VAB6 KSR2_HUMAN kinase suppressor of ras 2 237 Pro-rich. intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GTGGCGGGGGCGGGCACAAGC 0.721000 17 37 0 0 1 0 0 MEGF11 84465 broad.mit.edu 37 15 66215174 66215174 + Silent SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr15:66215174G>A ENST00000409699.2 - 14 1981 c.1809C>T c.(1807-1809)ccC>ccT p.P603P MEGF11_ENST00000288745.3_Silent_p.P528P|MEGF11_ENST00000360698.4_Silent_p.P603P|MEGF11_ENST00000395614.1_5'UTR|MEGF11_ENST00000395625.2_Silent_p.P528P|MEGF11_ENST00000422354.1_Silent_p.P603P A6BM72 MEG11_HUMAN multiple EGF-like-domains 11 603 EGF-like 10. basolateral plasma membrane|integral to membrane breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 19 TCTGGCATAAGGGTCCTCGGA 0.607000 3 16 0 0 1 0 0 FAAH2 158584 broad.mit.edu 37 X 57405110 57405110 + Missense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chrX:57405110C>T ENST00000374900.4 + 6 889 c.769C>T c.(769-771)Ccc>Tcc p.P257S NM_174912.3 NP_777572.2 Q6GMR7 FAAH2_HUMAN fatty acid amide hydrolase 2 257 integral to membrane carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3) 22 AGGTCAGTTTCCCTTGGCTGT 0.507000 HNSCC(52;0.14) 6 70 0 0 1 0 0 PCDHA10 56139 broad.mit.edu 37 5 140235981 140235981 + Silent SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr5:140235981C>T ENST00000307360.5 + 1 348 c.348C>T c.(346-348)ttC>ttT p.F116F PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000506939.2_Silent_p.F116F|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron NM_018901.2|NM_031859.1 NP_061724.1|NP_114065.1 NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2) 79 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCAGGTTTTCCATGTGGACG 0.547000 82 145 0 0 1 0 0 RP11-565P22.6 0 broad.mit.edu 37 1 162351853 162351853 + Missense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr1:162351853G>A ENST00000431696.1 + 3 489 c.489G>A c.(487-489)ctG>ctA p.163_163insL C1orf226_ENST00000458626.2_Silent_p.L54L|C1orf226_ENST00000426197.2_Silent_p.L97L TCAAGAACCTGGGCAAAGCCA 0.632000 6 9 0 0 1 0 0 SCNN1A 6337 broad.mit.edu 37 12 6457906 6457906 + Missense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr12:6457906G>A ENST00000358945.3 - 12 2122 c.1682C>T c.(1681-1683)tCt>tTt p.S561F SCNN1A_ENST00000396966.2_3'UTR|SCNN1A_ENST00000360168.3_Missense_Mutation_p.S598F|SCNN1A_ENST00000543768.1_Missense_Mutation_p.S562F|SCNN1A_ENST00000228916.2_Missense_Mutation_p.S539F|SCNN1A_ENST00000540037.1_Missense_Mutation_p.S239F P37088 SCNNA_HUMAN sodium channel, non-voltage-gated 1 alpha subunit 539 excretion|response to stimulus|sensory perception of taste apical plasma membrane WW domain binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 27 Amiloride(DB00594)|Triamterene(DB00384) GACAGAGGGAGACTCAGAATT 0.522000 32 81 0 0 1 0 0 COX10-AS1 100874058 broad.mit.edu 37 17 13928449 13928449 + RNA SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr17:13928449G>A ENST00000602743.1 - 0 224 AAGTGGGAGGGAGGGGGTGAC 0.617000 11 24 0 0 1 0 0 GAK 2580 broad.mit.edu 37 4 887678 887678 + Silent SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr4:887678G>A ENST00000314167.4 - 8 971 c.861C>T c.(859-861)gtC>gtT p.V287V GAK_ENST00000511163.1_Silent_p.V208V NM_005255.2 NP_005246.2 O14976 GAK_HUMAN cyclin G associated kinase 287 Protein kinase. cell cycle focal adhesion|Golgi apparatus|perinuclear region of cytoplasm ATP binding|heat shock protein binding|protein serine/threonine kinase activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2) 39 Colorectal(103;0.219) GGCTGTGGAAGACCGTGTACT 0.622000 15 40 0 0 1 0 0 CD1E 913 broad.mit.edu 37 1 158325189 158325189 + Missense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr1:158325189G>A ENST00000444681.2 + 2 451 c.158G>A c.(157-159)gGa>gAa p.G53E CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368156.1_Intron|CD1E_ENST00000368163.3_Missense_Mutation_p.G152E|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368160.3_Missense_Mutation_p.G152E|CD1E_ENST00000368165.3_Intron|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368161.3_Missense_Mutation_p.G152E|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000434258.1_Missense_Mutation_p.G150E|CD1E_ENST00000368167.3_Missense_Mutation_p.G152E|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368154.1_Intron NM_001185114.1 NP_001172043.1 P15812 CD1E_HUMAN CD1e molecule 152 antigen processing and presentation|immune response early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1) 49 all_hematologic(112;0.0378) AGTTTCCAAGGAATTTCCTGG 0.458000 23 82 0 0 1 0 0 KIF1C 10749 broad.mit.edu 37 17 4926878 4926878 + Missense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr17:4926878C>T ENST00000320785.5 + 23 3101 c.2744C>T c.(2743-2745)tCg>tTg p.S915L NM_006612.5 NP_006603.2 O43896 KIF1C_HUMAN kinesin family member 1C 915 microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER endoplasmic reticulum|Golgi apparatus|microtubule ATP binding|microtubule motor activity NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3) 30 CGGCCCCCCTCGCCACCACTG 0.667000 15 51 0 0 1 0 0 MRGPRX1 259249 broad.mit.edu 37 11 18955501 18955501 + Silent SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr11:18955501G>A ENST00000302797.3 - 1 1055 c.831C>T c.(829-831)tcC>tcT p.S277S NM_147199.3 NP_671732.3 Q96LB2 MRGX1_HUMAN MAS-related GPR, member X1 277 acute-phase response integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 GCTGCCTAAAGGAGCCCACGA 0.507000 30 44 0 0 1 0 0 APOB 338 broad.mit.edu 37 2 21232149 21232149 + Missense_Mutation SNP C C T rs149358359 byFrequency TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr2:21232149C>T ENST00000233242.1 - 26 7718 c.7591G>A c.(7591-7593)Gaa>Aaa p.E2531K NM_000384.2 NP_000375.2 P04114 APOB_HUMAN apolipoprotein B 2531 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) CGTTGAAGTTCCTGCTGAATG 0.453000 25 28 0 0 1 0 0 IGHV4OR15-8 28317 broad.mit.edu 37 15 22473351 22473351 + RNA SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr15:22473351C>T ENST00000557788.2 - 0 2 ACAGGTGTTTCATGTTCTTGT 0.512000 5 75 0 0 1 0 0 ANK1 286 broad.mit.edu 37 8 41551602 41551602 + Missense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr8:41551602C>T ENST00000396942.1 - 29 3429 c.3346G>A c.(3346-3348)Gag>Aag p.E1116K ANK1_ENST00000396945.1_Missense_Mutation_p.E1116K|ANK1_ENST00000379758.2_Missense_Mutation_p.E1116K|ANK1_ENST00000352337.4_Missense_Mutation_p.E1116K|ANK1_ENST00000265709.8_Missense_Mutation_p.E1157K|ANK1_ENST00000289734.7_Missense_Mutation_p.E1116K|ANK1_ENST00000347528.4_Missense_Mutation_p.E1116K P16157 ANK1_HUMAN ankyrin 1, erythrocytic 1116 axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) GTGACAAGCTCATCCGGGACA 0.627000 20 26 0 0 1 0 0 PYGM 5837 broad.mit.edu 37 11 64522183 64522183 + Silent SNP G G A rs146289842 TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr11:64522183G>A ENST00000164139.3 - 8 1379 c.981C>T c.(979-981)ttC>ttT p.F327F PYGM_ENST00000377432.3_Silent_p.F239F NM_005609.2 NP_005600.1 P11217 PYGM_HUMAN phosphorylase, glycogen, muscle 327 glucose metabolic process|glycogen catabolic process cytosol glycogen phosphorylase activity|protein binding cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 Pyridoxal Phosphate(DB00114) GGAAGGCATCGAAGTTCGTGC 0.602000 3 23 0 0 1 0 0 SLC9C2 284525 broad.mit.edu 37 1 173486701 173486701 + Missense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr1:173486701G>A ENST00000367714.3 - 23 3304 c.2882C>T c.(2881-2883)aCc>aTc p.T961I SLC9C2_ENST00000466087.1_5'UTR NM_178527.3 NP_848622.2 Q5TAH2 S9A11_HUMAN solute carrier family 9, member C2 (putative) 961 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity ACAGATGACGGTATATTCAAT 0.358000 29 46 0 0 1 0 0 SATB1 6304 broad.mit.edu 37 3 18436211 18436211 + Missense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr3:18436211C>T ENST00000338745.6 - 7 2683 c.949G>A c.(949-951)Gtc>Atc p.V317I SATB1_ENST00000454909.2_Missense_Mutation_p.V317I|SATB1_ENST00000417717.2_Missense_Mutation_p.V317I|TBC1D5_ENST00000414318.2_Intron NM_002971.4 NP_002962.1 Q01826 SATB1_HUMAN SATB homeobox 1 317 cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter nuclear matrix|PML body double-stranded DNA binding|sequence-specific DNA binding NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2) 32 TGCTGGTTGACCAATTGAGGA 0.542000 9 73 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168105256 168105256 + Missense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr2:168105256G>A ENST00000409195.1 + 9 7443 c.7354G>A c.(7354-7356)Gat>Aat p.D2452N XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.D2230N|XIRP2_ENST00000295237.9_Missense_Mutation_p.D2452N|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 2277 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 CTCCCTGTCAGATATGGAATG 0.413000 37 75 0 0 1 0 0 SCN4A 6329 broad.mit.edu 37 17 62041100 62041100 + Missense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr17:62041100G>A ENST00000435607.1 - 10 1614 c.1538C>T c.(1537-1539)tCg>tTg p.S513L SCN4A_ENST00000578147.1_Missense_Mutation_p.S513L NM_000334.4 NP_000325.4 P35499 SCN4A_HUMAN sodium channel, voltage-gated, type IV, alpha subunit 513 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 101 Lamotrigine(DB00555) CTCCCCTTGCGATGTGTCCAG 0.647000 6 10 0 0 1 0 0 OR1F1 4992 broad.mit.edu 37 16 3255008 3255008 + Silent SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr16:3255008C>T ENST00000304646.2 + 1 762 c.762C>T c.(760-762)acC>acT p.T254T AJ003147.9_ENST00000576468.1_RNA NM_012360.1 NP_036492.1 O43749 OR1F1_HUMAN olfactory receptor, family 1, subfamily F, member 1 254 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(2)|lung(7) 11 TCTACAGCACCATCATTGCTG 0.498000 42 123 0 0 1 0 0 DAB2IP 153090 broad.mit.edu 37 9 124533001 124533001 + Silent SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr9:124533001C>T ENST00000408936.3 + 11 2258 c.2076C>T c.(2074-2076)tcC>tcT p.S692S DAB2IP_ENST00000259371.2_Silent_p.S664S|DAB2IP_ENST00000309989.1_Silent_p.S568S Q5VWQ8 DAB2P_HUMAN DAB2 interacting protein 692 activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter cytoplasm|intrinsic to internal side of plasma membrane 14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 27 ACGATCTTTCCGGGTAAGAGC 0.577000 13 15 0 0 1 0 0 MAGEC3 139081 broad.mit.edu 37 X 140969392 140969392 + Missense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chrX:140969392C>T ENST00000298296.1 + 4 719 c.719C>T c.(718-720)tCc>tTc p.S240F MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000536088.1_Intron|MAGEC3_ENST00000448920.1_Intron NM_138702.1 NP_619647.1 Q8TD91 MAGC3_HUMAN melanoma antigen family C, 3 240 MAGE 1. NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2) 69 Acute lymphoblastic leukemia(192;6.56e-05) TTTGGCATTTCCCTGACAGAA 0.473000 64 120 0 0 1 0 0 NEB 4703 broad.mit.edu 37 2 152432772 152432772 + Missense_Mutation SNP A A T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr2:152432772A>T ENST00000427231.2 - 106 17003 c.16801T>A c.(16801-16803)Ttt>Att p.F5601I NEB_ENST00000604864.1_Missense_Mutation_p.F5601I|NEB_ENST00000409198.1_Missense_Mutation_p.F3900I|NEB_ENST00000603639.1_Missense_Mutation_p.F5601I|NEB_ENST00000172853.10_Missense_Mutation_p.F3900I|NEB_ENST00000397345.3_Missense_Mutation_p.F5601I NM_001164507.1 NP_001157979.1 P20929 NEBU_HUMAN nebulin 5612 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) CTGTCACAAAAGATATTCTGG 0.478000 31 60 0 0 1 0 0 TRBV4-2 28616 broad.mit.edu 37 7 142045530 142045530 + RNA SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr7:142045530G>A ENST00000390392.3 + 0 169 AGTCCCCATGGAAACGGGAGT 0.473000 26 99 0 0 1 0 0 FBXW12 285231 broad.mit.edu 37 3 48436111 48436111 + Missense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr3:48436111C>T ENST00000296438.5 + 11 1568 c.1382C>T c.(1381-1383)tCt>tTt p.S461F FBXW12_ENST00000436231.1_Missense_Mutation_p.S304F|FBXW12_ENST00000468158.1_Intron|FBXW12_ENST00000415155.1_Missense_Mutation_p.S391F|FBXW12_ENST00000445170.1_Missense_Mutation_p.S442F NM_207102.2 NP_996985.2 Q6X9E4 FBW12_HUMAN F-box and WD repeat domain containing 12 461 breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) GTGATGTATTCTTTGAATACG 0.363000 18 21 0 0 1 0 0 ZZEF1 23140 broad.mit.edu 37 17 4046014 4046014 + Missense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr17:4046014G>A ENST00000381638.2 - 1 300 c.176C>T c.(175-177)gCt>gTt p.A59V ZZEF1_ENST00000574474.1_5'UTR NM_015113.3 NP_055928.3 O43149 ZZEF1_HUMAN zinc finger, ZZ-type with EF-hand domain 1 59 calcium ion binding|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 84 CGCTGCAGCAGCCTCTCGCAG 0.756000 4 9 0 0 1 0 0 PCDHA9 9752 broad.mit.edu 37 5 140229505 140229505 + Silent SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr5:140229505C>T ENST00000378122.3 + 1 2149 c.1425C>T c.(1423-1425)ttC>ttT p.F475F PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Silent_p.F475F|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron NM_014005.3 NP_054724.1 breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 59 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCACATCTTCACGGTGTCTG 0.657000 61 98 0 0 1 0 0 MLLT3 4300 broad.mit.edu 37 9 20414343 20414343 + Silent SNP A A G TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr9:20414343A>G ENST00000380338.4 - 5 787 c.501T>C c.(499-501)agT>agC p.S167S MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000475957.1_5'UTR NM_004529.2 NP_004520.2 P42568 AF9_HUMAN myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 167 Poly-Ser. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding p.S167S(19) central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7) 66 GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05) tgctgctgctactgctgctgc 0.532000 T MLL ALL 5 55 0 0 1 0 0 RAB3GAP2 25782 broad.mit.edu 37 1 220387315 220387315 + Missense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr1:220387315C>T ENST00000358951.2 - 3 303 c.187G>A c.(187-189)Gaa>Aaa p.E63K NM_012414.3 NP_036546.2 Q9H2M9 RBGPR_HUMAN RAB3 GTPase activating protein subunit 2 (non-catalytic) 63 intracellular protein transport cytoplasm|soluble fraction GTPase activator activity|protein heterodimerization activity breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1) 39 GBM - Glioblastoma multiforme(131;0.0443) GTATTTCCTTCTTCTTCCTGT 0.383000 6 15 0 0 1 0 0 IPO8 10526 broad.mit.edu 37 12 30784923 30784923 + Silent SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr12:30784923G>A ENST00000256079.4 - 24 3260 c.2922C>T c.(2920-2922)gcC>gcT p.A974A IPO8_ENST00000544829.1_Silent_p.A769A NM_006390.3 NP_006381.2 O15397 IPO8_HUMAN importin 8 974 intracellular protein transport|signal transduction cytoplasm|nucleus protein transporter activity|Ran GTPase binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2) 52 all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233) GCTGGTACCAGGCTGCATCTC 0.522000 10 18 0 0 1 0 0 ZNF426 79088 broad.mit.edu 37 19 9639548 9639548 + Silent SNP A A G TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr19:9639548A>G ENST00000593003.1 - 6 1536 c.1059T>C c.(1057-1059)ccT>ccC p.P353P ZNF426_ENST00000253115.2_Silent_p.P391P|ZNF426_ENST00000535489.1_Silent_p.P391P Q9BUY5 ZN426_HUMAN zinc finger protein 426 391 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 20 CACATACAAAAGGCTTCTCTC 0.418000 20 22 0 0 1 0 0 KIAA0586 9786 broad.mit.edu 37 14 58955410 58955410 + Missense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr14:58955410C>T ENST00000423743.3 + 25 3725 c.3467C>T c.(3466-3468)cCa>cTa p.P1156L KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000261244.5_Missense_Mutation_p.P1124L|KIAA0586_ENST00000556134.1_Missense_Mutation_p.P1185L|KIAA0586_ENST00000354386.6_Missense_Mutation_p.P1253L NM_001244191.1|NM_001244192.1 NP_001231120.1|NP_001231121.1 E9PGW8 E9PGW8_HUMAN KIAA0586 1124 endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 CCTCCAGAGCCAGTTCCCTTT 0.483000 17 43 0 0 1 0 0 SDCCAG3 10807 broad.mit.edu 37 9 139299544 139299544 + Splice_Site SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr9:139299544G>A ENST00000298537.7 - 6 1146 c.936_splice c.e6+1 p.T312_splice SDCCAG3_ENST00000357365.3_Splice_Site_p.T335_splice|SDCCAG3_ENST00000371725.3_Splice_Site_p.T262_splice|SDCCAG3_ENST00000461693.1_5'UTR NM_006643.3 NP_006634.3 Q96C92 SDCG3_HUMAN serologically defined colon cancer antigen 3 335 cytoplasm NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9) 16 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06) AACCCATACGGTCATCAGCTC 0.567000 8 73 0 0 1 0 0 MYO18B 84700 broad.mit.edu 37 22 26239706 26239706 + Silent SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr22:26239706C>T ENST00000335473.7 + 18 3463 c.3213C>T c.(3211-3213)tcC>tcT p.S1071S MYO18B_ENST00000536101.1_Silent_p.S1071S|MYO18B_ENST00000407587.2_Silent_p.S1072S NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 1071 Myosin head-like. nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 TTCCAGGGTCCTCTGCCCTGC 0.577000 31 92 0 0 1 0 0 PCDHGB3 56102 broad.mit.edu 37 5 140751383 140751383 + Silent SNP C C G TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr5:140751383C>G ENST00000576222.1 + 1 1553 c.1422C>G c.(1420-1422)gtC>gtG p.V474V PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron NM_018924.2|NM_032097.1 NP_061747.1|NP_115268.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTGCGCATGTCAGAGCCTCGG 0.577000 4 180 0 0 1 0 0 IGHG3 3502 broad.mit.edu 37 14 106237699 106237699 + RNA SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr14:106237699G>A ENST00000390551.2 - 0 43 AGGTGCTCCTGGAGCAGGGCG 0.677000 15 32 0 0 1 0 0 MYB 4602 broad.mit.edu 37 6 135517065 135517065 + Silent SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr6:135517065C>T ENST00000341911.5 + 9 1327 c.1128C>T c.(1126-1128)atC>atT p.I376I MYB_ENST00000367814.4_Silent_p.I376I|MYB_ENST00000316528.8_Silent_p.I376I|MYB_ENST00000527615.1_Silent_p.I376I|MYB_ENST00000531845.1_3'UTR|MYB_ENST00000534044.1_Silent_p.I376I|MYB_ENST00000442647.2_Silent_p.I373I|MYB_ENST00000525369.1_Intron|MYB_ENST00000533624.1_Silent_p.I341I|MYB-AS1_ENST00000455534.1_RNA|MYB_ENST00000528774.1_Silent_p.I373I|MYB_ENST00000534121.1_Silent_p.I376I NM_001130173.1|NM_001161656.1|NM_001161658.1 NP_001123645.1|NP_001155128.1|NP_001155130.1 P10242 MYB_HUMAN v-myb avian myeloblastosis viral oncogene homolog 376 Leucine-zipper.|Negative regulatory domain (By similarity). blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear matrix DNA binding|protein binding breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 28 all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221) Lung NSC(302;3.08e-05)|Ovarian(999;0.208) OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117) GGTGCATGATCGTCCACCAGG 0.478000 T NFIB adenoid cystic carcinoma 17 45 0 0 1 0 0 TENM3 55714 broad.mit.edu 37 4 183673091 183673091 + Silent SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr4:183673091C>T ENST00000511685.1 + 20 3891 c.3768C>T c.(3766-3768)gtC>gtT p.V1256V TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Silent_p.V1256V teneurin transmembrane protein 3 ATGCAGAAGTCGTCGCAGGGA 0.537000 27 51 0 0 1 0 0 FERMT1 55612 broad.mit.edu 37 20 6091022 6091022 + Silent SNP T T C TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr20:6091022T>C ENST00000217289.4 - 5 1457 c.669A>G c.(667-669)caA>caG p.Q223Q FERMT1_ENST00000536936.1_Intron NM_017671.4 NP_060141.3 Q9BQL6 FERM1_HUMAN fermitin family member 1 223 FERM. cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation cytosol|focal adhesion|ruffle membrane binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2) 17 ACTGGGGGGGTTGGCTGAATG 0.517000 18 43 0 0 1 0 0 FAM81B 153643 broad.mit.edu 37 5 94782360 94782360 + Missense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr5:94782360G>A ENST00000283357.5 + 8 1034 c.988G>A c.(988-990)Ggc>Agc p.G330S NM_152548.2 NP_689761.2 Q96LP2 FA81B_HUMAN family with sequence similarity 81, member B 330 central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473) all cancers(79;1.04e-16) AGACCACCTGGGCCATATAAA 0.373000 13 38 0 0 1 0 0 CNTNAP5 129684 broad.mit.edu 37 2 125192201 125192201 + Nonsense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr2:125192201C>T ENST00000431078.1 + 5 1034 c.670C>T c.(670-672)Cag>Tag p.Q224* NM_130773.2 NP_570129.1 Q8WYK1 CNTP5_HUMAN contactin associated protein-like 5 224 Laminin G-like 1. cell adhesion|signal transduction integral to membrane receptor binding NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3) 176 BRCA - Breast invasive adenocarcinoma(221;0.248) TGGAGAAGGTCAGCGTGGAGA 0.512000 20 25 0 0 1 0 0 SYT9 143425 broad.mit.edu 37 11 7334696 7334696 + Missense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr11:7334696G>A ENST00000318881.6 + 3 805 c.568G>A c.(568-570)Gaa>Aaa p.E190K SYT9_ENST00000396716.2_Missense_Mutation_p.E158K NM_175733.3 NP_783860.1 Q86SS6 SYT9_HUMAN synaptotagmin IX 190 cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 38 Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949) TCAAAAACAGGAACAGTTGAC 0.413000 15 43 0 0 1 0 0 ACTB 60 broad.mit.edu 37 7 5569226 5569226 + Silent SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr7:5569226G>A ENST00000331789.5 - 2 254 c.63C>T c.(61-63)ttC>ttT p.F21F NM_001101.3 NP_001092.1 P60709 ACTB_HUMAN actin, beta 21 'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2) 8 Ovarian(82;0.0606) UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37) CGTCGCCCGCGAAGCCGGCCT 0.716000 18 50 0 0 1 0 0 OR56A3 390083 broad.mit.edu 37 11 5968870 5968870 + Silent SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr11:5968870C>T ENST00000329564.6 + 1 301 c.294C>T c.(292-294)ttC>ttT p.F98F NM_001003443.2 NP_001003443.2 Q8NH54 O56A3_HUMAN olfactory receptor, family 56, subfamily A, member 3 98 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1) 41 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CCATCAGCTTCCCTGCCTGCT 0.532000 64 143 0 0 1 0 0 PIGR 5284 broad.mit.edu 37 1 207106358 207106358 + Missense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr1:207106358C>T ENST00000356495.4 - 7 2042 c.1859G>A c.(1858-1860)gGg>gAg p.G620E NM_002644.3 NP_002635.2 P01833 PIGR_HUMAN polymeric immunoglobulin receptor 620 extracellular region|integral to plasma membrane protein binding central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 TGCTCTGCTCCCATCGGCTTG 0.557000 30 67 0 0 1 0 0 OBP2A 29991 broad.mit.edu 37 9 138439057 138439057 + Missense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr9:138439057G>A ENST00000342114.4 + 2 148 c.106G>A c.(106-108)Gat>Aat p.D36N OBP2A_ENST00000539850.1_Silent_p.L80L|OBP2A_ENST00000371776.1_Silent_p.L80L|OBP2A_ENST00000340780.3_Silent_p.L80L Q9NY56 OBP2A_HUMAN odorant binding protein 2A 46 response to stimulus|sensory perception of smell extracellular region odorant binding|transporter activity endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05) AGAAAATCCTGATGCGGAAGA 0.642000 17 38 0 0 1 0 0 PGK2 5232 broad.mit.edu 37 6 49753675 49753675 + Missense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr6:49753675G>A ENST00000304801.3 - 1 1378 c.1226C>T c.(1225-1227)cCt>cTt p.P409L NM_138733.4 NP_620061.2 P07205 PGK2_HUMAN phosphoglycerate kinase 2 409 glycolysis cytosol ATP binding|phosphoglycerate kinase activity autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 47 Lung NSC(77;0.0402) CTCTACTCCAGGAAGGATTTT 0.453000 17 45 0 0 1 0 0 SLFN11 91607 broad.mit.edu 37 17 33690598 33690598 + Missense_Mutation SNP A A T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr17:33690598A>T ENST00000394566.1 - 4 501 c.229T>A c.(229-231)Tta>Ata p.L77I SLFN11_ENST00000308377.4_Missense_Mutation_p.L77I NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1 NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1 Q7Z7L1 SLN11_HUMAN schlafen family member 11 77 nucleus ATP binding autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2) 50 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) GACTGTTCTAAATCCAGTCCC 0.438000 58 111 0 0 1 0 0 ABHD2 11057 broad.mit.edu 37 15 89698693 89698693 + Missense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr15:89698693C>T ENST00000352732.5 + 5 986 c.466C>T c.(466-468)Cgg>Tgg p.R156W ABHD2_ENST00000565973.1_Missense_Mutation_p.R156W|ABHD2_ENST00000355100.3_Missense_Mutation_p.R156W NM_152924.4 NP_690888.1 P08910 ABHD2_HUMAN abhydrolase domain containing 2 156 integral to membrane carboxylesterase activity NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1) 23 Lung NSC(78;0.0472)|all_lung(78;0.089) AAATGGCTATCGGTGCGCCGT 0.517000 53 68 0 0 1 0 0 MIR325 442899 broad.mit.edu 37 X 76225910 76225910 + RNA SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chrX:76225910G>A ENST00000385260.1 - 0 16 NR_029905.1 acacctactaggaaccaagca 0.383000 39 84 0 0 1 0 0 ZNF624 57547 broad.mit.edu 37 17 16527594 16527594 + Silent SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr17:16527594G>A ENST00000311331.7 - 6 697 c.606C>T c.(604-606)ggC>ggT p.G202G NM_020787.3 NP_065838.2 Q9P2J8 ZN624_HUMAN zinc finger protein 624 202 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1) 26 UCEC - Uterine corpus endometrioid carcinoma (92;0.0837) CAAATCTAAAGCCTCTTTGAC 0.363000 25 50 0 0 1 0 0 GPATCH1 55094 broad.mit.edu 37 19 33608840 33608840 + Missense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr19:33608840C>T ENST00000170564.2 + 16 2620 c.2306C>T c.(2305-2307)tCc>tTc p.S769F NM_018025.2 NP_060495.2 Q9BRR8 GPTC1_HUMAN G patch domain containing 1 769 catalytic step 2 spliceosome nucleic acid binding breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4) 40 Esophageal squamous(110;0.137) TCCTCATCCTCCGAGGATGAG 0.532000 22 18 0 0 1 0 0 WNK4 65266 broad.mit.edu 37 17 40940743 40940743 + Silent SNP C C A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr17:40940743C>A ENST00000246914.5 + 11 2106 c.2085C>A c.(2083-2085)acC>acA p.T695T NM_032387.4 NP_115763.2 Q96J92 WNK4_HUMAN WNK lysine deficient protein kinase 4 695 intracellular protein kinase cascade tight junction ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1) 35 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.0749) AGCTACAGACCCATAACAGCA 0.527000 36 48 1.30998e-17 1.3339e-17 1 1 0 GRIA4 2893 broad.mit.edu 37 11 105623742 105623742 + Missense_Mutation SNP T T A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr11:105623742T>A ENST00000393127.2 + 4 729 c.283T>A c.(283-285)Ttt>Att p.F95I GRIA4_ENST00000530497.1_Missense_Mutation_p.F95I|GRIA4_ENST00000525187.1_Missense_Mutation_p.F95I|GRIA4_ENST00000282499.5_Missense_Mutation_p.F95I|GRIA4_ENST00000393125.2_Missense_Mutation_p.F95I|GRIA4_ENST00000428631.2_Missense_Mutation_p.F95I NM_001077243.2 NP_001070711.2 P48058 GRIA4_HUMAN glutamate receptor, ionotropic, AMPA 4 95 glutamate signaling pathway|synaptic transmission cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6) 82 Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323) BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899) L-Glutamic Acid(DB00142) ATTTGCCATTTTTGGACTCTA 0.428000 21 52 0 0 1 0 0 EPG5 57724 broad.mit.edu 37 18 43437862 43437862 + Silent SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr18:43437862G>A ENST00000282041.5 - 42 7432 c.7398C>T c.(7396-7398)atC>atT p.I2466I EPG5_ENST00000585906.1_5'UTR NM_020964.2 NP_066015.2 Q9HCE0 EPG5_HUMAN ectopic P-granules autophagy protein 5 homolog (C. elegans) 2466 autophagy NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 95 TTGCCCCCAGGATCCCAGAGC 0.512000 27 69 0 0 1 0 0 DAB2IP 153090 broad.mit.edu 37 9 124533000 124533000 + Missense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr9:124533000C>T ENST00000408936.3 + 11 2257 c.2075C>T c.(2074-2076)tCc>tTc p.S692F DAB2IP_ENST00000259371.2_Missense_Mutation_p.S664F|DAB2IP_ENST00000309989.1_Missense_Mutation_p.S568F Q5VWQ8 DAB2P_HUMAN DAB2 interacting protein 692 activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter cytoplasm|intrinsic to internal side of plasma membrane 14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 27 AACGATCTTTCCGGGTAAGAG 0.582000 13 15 0 0 1 0 0 CELSR1 9620 broad.mit.edu 37 22 46859773 46859773 + Silent SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr22:46859773G>A ENST00000262738.3 - 2 4013 c.4014C>T c.(4012-4014)ttC>ttT p.F1338F CELSR1_ENST00000395964.1_Silent_p.F1338F NM_014246.1 NP_055061.1 Q9NYQ6 CELR1_HUMAN cadherin, EGF LAG seven-pass G-type receptor 1 1338 EGF-like 1; calcium-binding. central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) GGATGGGCCGGAAGAGCACGG 0.657000 8 18 0 0 1 0 0 ABLIM2 84448 broad.mit.edu 37 4 8046937 8046937 + Missense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr4:8046937G>A ENST00000318888.4 - 9 996 c.125C>T c.(124-126)tCt>tTt p.S42F ABLIM2_ENST00000296372.8_Missense_Mutation_p.S285F|ABLIM2_ENST00000505872.1_Missense_Mutation_p.S285F|ABLIM2_ENST00000361737.5_Missense_Mutation_p.S285F|ABLIM2_ENST00000407564.3_Missense_Mutation_p.S285F|ABLIM2_ENST00000428004.2_Missense_Mutation_p.S285F|ABLIM2_ENST00000341937.5_Missense_Mutation_p.S285F|ABLIM2_ENST00000514025.1_Missense_Mutation_p.S42F|ABLIM2_ENST00000447017.2_Missense_Mutation_p.S285F|ABLIM2_ENST00000545242.1_Missense_Mutation_p.S285F|ABLIM2_ENST00000361581.5_Missense_Mutation_p.S285F|ABLIM2_ENST00000546334.1_Missense_Mutation_p.S285F Q6H8Q1 ABLM2_HUMAN actin binding LIM protein family, member 2 285 LIM zinc-binding 1. axon guidance|cytoskeleton organization actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus actin binding|zinc ion binding NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1) 25 AGCAGGGACAGAAATGATGCT 0.547000 36 86 0 0 1 0 0 DGKK 139189 broad.mit.edu 37 X 50121162 50121162 + RNA SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chrX:50121162C>T ENST00000376025.2 - 0 3104 Q5KSL6 DGKK_HUMAN diacylglycerol kinase, kappa activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress cytoplasm|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(276;0.236) GTCTCTGAATCCAGGCCTCCC 0.483000 18 52 0 0 1 0 0 MECOM 2122 broad.mit.edu 37 3 168834324 168834324 + Missense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr3:168834324G>A ENST00000464456.1 - 7 1972 c.772C>T c.(772-774)Cct>Tct p.P258S MECOM_ENST00000494292.1_Missense_Mutation_p.P446S|MECOM_ENST00000472280.1_Missense_Mutation_p.P259S|MECOM_ENST00000460814.1_Missense_Mutation_p.P258S|MECOM_ENST00000468789.1_Missense_Mutation_p.P258S|MECOM_ENST00000433243.2_Missense_Mutation_p.P259S|MECOM_ENST00000392736.3_Missense_Mutation_p.P258S|MECOM_ENST00000264674.3_Missense_Mutation_p.P323S NM_001164000.1 NP_001157472.1 Q13465 MDS1_HUMAN MDS1 and EVI1 complex locus 0 sequence-specific DNA binding transcription factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 85 GGGGTTCCAGGAAGTGAAATG 0.473000 36 68 0 0 1 0 0 SERPINB4 6318 broad.mit.edu 37 18 61305045 61305045 + Missense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr18:61305045C>T ENST00000341074.5 - 8 1196 c.1081G>A c.(1081-1083)Gaa>Aaa p.E361K SERPINB4_ENST00000356424.6_Missense_Mutation_p.E309K NM_002974.2 NP_002965.1 serpin peptidase inhibitor, clade B (ovalbumin), member 4 breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 42 CAGAACTCTTCATTAGTTGAA 0.448000 30 87 0 0 1 0 0 RP11-146E13.4 0 broad.mit.edu 37 14 19857036 19857036 + RNA SNP A A G TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr14:19857036A>G ENST00000548109.1 + 0 72 CTGGATAATAAAGTTCATCTC 0.373000 7 181 0 0 1 0 0 OR8U1 219417 broad.mit.edu 37 11 56143815 56143815 + Missense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr11:56143815C>T ENST00000302270.1 + 1 716 c.716C>T c.(715-717)tCg>tTg p.S239L NM_001005204.1 NP_001005204.1 olfactory receptor, family 8, subfamily U, member 1 NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(23)|ovary(4)|skin(1)|stomach(1) 39 Esophageal squamous(21;0.00448) AAGGCTTTCTCGACGTGTGGC 0.473000 30 51 0 0 1 0 0 DNAH9 1770 broad.mit.edu 37 17 11593400 11593400 + Missense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr17:11593400C>T ENST00000262442.3 + 20 4329 c.4261C>T c.(4261-4263)Cgg>Tgg p.R1421W DNAH9_ENST00000454412.2_Missense_Mutation_p.R1421W NM_001372.3 NP_001363.2 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 1421 Stem (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4) 290 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) GGATGAGGTCCGGGGCATTGT 0.562000 12 20 0 0 1 0 0 PRKDC 5591 broad.mit.edu 37 8 48769852 48769852 + Silent SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr8:48769852G>A ENST00000314191.2 - 50 6527 c.6471C>T c.(6469-6471)cgC>cgT p.R2157R PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Silent_p.R2157R NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 2158 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) TCGCGTAAGGGCGAAAGACCT 0.418000 Non-homologous end-joining 12 22 0 0 1 0 0 XCR1 2829 broad.mit.edu 37 3 46063140 46063140 + Silent SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr3:46063140G>A ENST00000309285.3 - 2 656 c.300C>T c.(298-300)ttC>ttT p.F100F XCR1_ENST00000542109.1_Silent_p.F100F NM_001024644.1 NP_001019815.1 P46094 XCR1_HUMAN chemokine (C motif) receptor 1 100 chemotaxis|G-protein signaling, coupled to cyclic nucleotide second messenger|inflammatory response integral to plasma membrane chemokine receptor activity NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2) 14 BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203) GTTTGCAGAGGAAGTCTCCCA 0.542000 14 15 0 0 1 0 0 SERPINB4 6318 broad.mit.edu 37 18 61309074 61309074 + Missense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr18:61309074C>T ENST00000341074.5 - 4 386 c.271G>A c.(271-273)Gaa>Aaa p.E91K SERPINB4_ENST00000356424.6_Missense_Mutation_p.E91K NM_002974.2 NP_002965.1 serpin peptidase inhibitor, clade B (ovalbumin), member 4 breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1) 42 TTGTTGAATTCAGTCAGAAGC 0.383000 51 81 0 0 1 0 0 ITPKB 3707 broad.mit.edu 37 1 226924619 226924619 + Missense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr1:226924619G>A ENST00000429204.1 - 2 868 c.541C>T c.(541-543)Cgc>Tgc p.R181C ITPKB_ENST00000366784.1_Missense_Mutation_p.R181C|ITPKB_ENST00000272117.3_Missense_Mutation_p.R181C NM_002221.3 NP_002212.3 P27987 IP3KB_HUMAN inositol-trisphosphate 3-kinase B 181 ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1) 30 Prostate(94;0.0773) CTGCTGCTGCGGAAGGGGCAC 0.677000 36 63 0 0 1 0 0 ME2 4200 broad.mit.edu 37 18 48473476 48473476 + Silent SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr18:48473476G>A ENST00000321341.5 + 16 1949 c.1677G>A c.(1675-1677)cgG>cgA p.R559R ME2_ENST00000585680.1_3'UTR|ME2_ENST00000382927.3_3'UTR NM_002396.4 NP_002387.1 P23368 MAOM_HUMAN malic enzyme 2, NAD(+)-dependent, mitochondrial 559 malate metabolic process mitochondrial matrix electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3) 23 Colorectal(6;0.0273)|all_epithelial(6;0.118) Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184) NADH(DB00157) GAACATGGCGGAGTGAATATG 0.403000 39 87 0 0 1 0 0 AOC4P 90586 broad.mit.edu 37 17 41020607 41020607 + RNA SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr17:41020607C>T ENST00000585538.1 + 0 1446 NR_002773.1 CCAGGGCCTCCCCCTGCGGCG 0.537000 7 23 0 0 1 0 0 LCA5 167691 broad.mit.edu 37 6 80196841 80196841 + Silent SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr6:80196841G>A ENST00000392959.1 - 9 2585 c.1974C>T c.(1972-1974)ttC>ttT p.F658F LCA5_ENST00000369846.4_Silent_p.F658F NM_181714.3 NP_859065.2 Q86VQ0 LCA5_HUMAN Leber congenital amaurosis 5 658 protein transport cilium axoneme|microtubule basal body protein binding haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1) 32 all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176) BRCA - Breast invasive adenocarcinoma(397;0.0657) CTTCACTGAGGAAAAAGCCTT 0.398000 20 58 0 0 1 0 0 SLC2A9 56606 broad.mit.edu 37 4 9892285 9892285 + Silent SNP A A G TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr4:9892285A>G ENST00000506583.1 - 11 1294 c.1077T>C c.(1075-1077)ttT>ttC p.F359F SLC2A9_ENST00000309065.3_Silent_p.F359F|SLC2A9_ENST00000264784.3_Silent_p.F388F Q9NRM0 GTR9_HUMAN solute carrier family 2 (facilitated glucose transporter), member 9 388 glucose transport|urate metabolic process integral to membrane|plasma membrane sugar:hydrogen symporter activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1) 35 CCATGAGCCCAAAGCCACCAA 0.517000 12 32 0 0 1 0 0 VPS13B 157680 broad.mit.edu 37 8 100832313 100832313 + Missense_Mutation SNP T T C TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr8:100832313T>C ENST00000358544.2 + 49 9143 c.9032T>C c.(9031-9033)gTt>gCt p.V3011A VPS13B_ENST00000357162.2_Missense_Mutation_p.V2986A|VPS13B_ENST00000395996.1_3'UTR NM_017890.4 NP_060360.3 Q7Z7G8 VP13B_HUMAN vacuolar protein sorting 13 homolog B (yeast) 3011 protein transport p.V3011D(1) NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9) 193 Breast(36;3.73e-07) OV - Ovarian serous cystadenocarcinoma(57;0.00636) GTTCTACAGGTTCCTGCTGGC 0.353000 54 64 0 0 1 0 0 SLC17A1 6568 broad.mit.edu 37 6 25826765 25826765 + Missense_Mutation SNP A A G TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr6:25826765A>G ENST00000244527.4 - 3 246 c.131T>C c.(130-132)aTg>aCg p.M44T SLC17A1_ENST00000468082.1_Missense_Mutation_p.M44T|SLC17A1_ENST00000476801.1_Missense_Mutation_p.M44T|SLC17A1_ENST00000427328.1_Missense_Mutation_p.M44T NM_005074.3 NP_005065.2 Q14916 NPT1_HUMAN solute carrier family 17 (organic anion transporter), member 1 44 sodium ion transport|urate metabolic process integral to plasma membrane|membrane fraction sodium-dependent phosphate transmembrane transporter activity|symporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 36 CATGACTACCATTGTGAGGTT 0.433000 53 99 0 0 1 0 0 ZC3H10 84872 broad.mit.edu 37 12 56515236 56515236 + Missense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr12:56515236C>T ENST00000257940.2 + 3 1166 c.890C>T c.(889-891)cCc>cTc p.P297L RP11-603J24.5_ENST00000550947.1_RNA|RP11-603J24.5_ENST00000549438.1_RNA NM_032786.1 NP_116175.1 Q96K80 ZC3HA_HUMAN zinc finger CCCH-type containing 10 297 nucleic acid binding|zinc ion binding breast(1)|endometrium(4)|large_intestine(1)|lung(2)|prostate(2)|skin(1) 11 OV - Ovarian serous cystadenocarcinoma(18;0.12) ACTCTGGCCCCCACTGTGGGC 0.547000 18 28 0 0 1 0 0 PEPD 5184 broad.mit.edu 37 19 33892682 33892682 + Silent SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr19:33892682G>A ENST00000244137.6 - 12 945 c.912C>T c.(910-912)gcC>gcT p.A304A PEPD_ENST00000436370.3_Silent_p.A240A|PEPD_ENST00000397032.4_Silent_p.A263A NM_000285.3 NP_000276.2 P12955 PEPD_HUMAN peptidase D 304 cellular amino acid metabolic process|collagen catabolic process|proteolysis aminopeptidase activity|dipeptidase activity|manganese ion binding|metallocarboxypeptidase activity endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(2) 17 Esophageal squamous(110;0.137) CCTCATAGACGGCCTTCTGGT 0.627000 4 14 0 0 1 0 0 TTLL10 254173 broad.mit.edu 37 1 1115635 1115635 + Missense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr1:1115635C>T ENST00000379290.1 + 6 594 c.421C>T c.(421-423)Ctc>Ttc p.L141F TTLL10_ENST00000379288.3_Missense_Mutation_p.L68F|TTLL10_ENST00000379289.1_Missense_Mutation_p.L141F Q6ZVT0 TTL10_HUMAN tubulin tyrosine ligase-like family, member 10 141 protein modification process ATP binding|tubulin-tyrosine ligase activity haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1) 7 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|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;0.199) CCTGGAGGGGCTCCTGCTGGG 0.692000 6 3 0 0 1 0 0 SMARCA4 6597 broad.mit.edu 37 19 11141561 11141561 + Missense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr19:11141561C>T ENST00000358026.2 + 25 3822 c.3538C>T c.(3538-3540)Cct>Tct p.P1180S SMARCA4_ENST00000541122.2_Missense_Mutation_p.P1180S|SMARCA4_ENST00000444061.3_Missense_Mutation_p.P1180S|SMARCA4_ENST00000590574.1_Missense_Mutation_p.P1180S|SMARCA4_ENST00000429416.3_Missense_Mutation_p.P1180S|SMARCA4_ENST00000589677.1_Missense_Mutation_p.P1180S|SMARCA4_ENST00000344626.4_Missense_Mutation_p.P1180S|SMARCA4_ENST00000413806.3_Missense_Mutation_p.P1180S|SMARCA4_ENST00000450717.3_Missense_Mutation_p.P1180S NM_001128849.1 NP_001122321.1 P51532 SMCA4_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 1180 Helicase C-terminal. chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity p.?(1) adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 163 all_lung(6;0.0512)|Lung NSC(9;0.0568) CGACTGGAATCCTCACCAGGT 0.617000 """F, N, Mis""" NSCLC 4 2 0 0 1 0 0 DOCK11 139818 broad.mit.edu 37 X 117744304 117744304 + Missense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chrX:117744304C>T ENST00000276204.6 + 28 3093 c.3019C>T c.(3019-3021)Ccc>Tcc p.P1007S DOCK11_ENST00000276202.7_Missense_Mutation_p.P1007S Q5JSL3 DOC11_HUMAN dedicator of cytokinesis 11 1007 blood coagulation cytosol GTP binding breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1) 84 TGCAATAATTCCCCATGTGAC 0.443000 22 66 0 0 1 0 0 KEL 3792 broad.mit.edu 37 7 142655480 142655480 + Missense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr7:142655480C>T ENST00000355265.2 - 5 910 c.436G>A c.(436-438)Gag>Aag p.E146K KEL_ENST00000479768.2_5'UTR NM_000420.2 NP_000411.1 P23276 KELL_HUMAN Kell blood group, metallo-endopeptidase 146 proteolysis|vasoconstriction integral to membrane|plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1) 60 Melanoma(164;0.059) AAGGCTTTCTCCTCCCCAGAG 0.478000 13 45 0 0 1 0 0 KIAA1211 57482 broad.mit.edu 37 4 57180913 57180913 + Nonsense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr4:57180913G>A ENST00000504228.1 + 6 1350 c.1245G>A c.(1243-1245)tgG>tgA p.W415* KIAA1211_ENST00000264229.6_Nonsense_Mutation_p.W415*|KIAA1211_ENST00000541073.1_Nonsense_Mutation_p.W408* Q6ZU35 K1211_HUMAN KIAA1211 415 Glu-rich. endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1) 65 Glioma(25;0.08)|all_neural(26;0.101) TGGAGGACTGGAGGGGGCAGC 0.657000 4 6 0 0 1 0 0 OR2AT4 341152 broad.mit.edu 37 11 74799928 74799928 + Silent SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr11:74799928G>A ENST00000305159.3 - 1 871 c.831C>T c.(829-831)atC>atT p.I277I NM_001005285.1 NP_001005285.1 A6NND4 O2AT4_HUMAN olfactory receptor, family 2, subfamily AT, member 4 277 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2) 12 CATTGCCCATGATATGGAAGT 0.512000 30 69 0 0 1 0 0 SLC6A7 6534 broad.mit.edu 37 5 149576346 149576346 + Silent SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr5:149576346C>T ENST00000230671.2 + 3 656 c.285C>T c.(283-285)ctC>ctT p.L95L SLC6A7_ENST00000524041.1_Silent_p.L95L NM_014228.3 NP_055043.2 Q99884 SC6A7_HUMAN solute carrier family 6 (neurotransmitter transporter), member 7 95 integral to plasma membrane|membrane fraction neurotransmitter:sodium symporter activity|proline:sodium symporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1) 16 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) L-Proline(DB00172) TCCTGGAGCTCTCCCTGGGCC 0.642000 63 156 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9071650 9071650 + Missense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr19:9071650C>T ENST00000397910.4 - 3 15999 c.15796G>A c.(15796-15798)Gaa>Aaa p.E5266K NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 5268 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 ATCGTCATTTCTGCAGATTTT 0.512000 27 34 0 0 1 0 0 PLK4 10733 broad.mit.edu 37 4 128811345 128811345 + Missense_Mutation SNP T T C rs60587538 TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr4:128811345T>C ENST00000270861.5 + 7 2058 c.1784T>C c.(1783-1785)gTt>gCt p.V595A PLK4_ENST00000515069.1_Missense_Mutation_p.V517A|PLK4_ENST00000507249.1_Missense_Mutation_p.V561A|PLK4_ENST00000513090.1_Missense_Mutation_p.V563A|PLK4_ENST00000514379.1_Missense_Mutation_p.V554A NM_014264.4 NP_055079.3 O00444 PLK4_HUMAN polo-like kinase 4 595 G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation centriole|cleavage furrow|cytosol|nucleolus ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1) 31 TCTCCGTTGGTTGCTCACAGG 0.388000 17 30 0 0 1 0 0 C3orf30 152405 broad.mit.edu 37 3 118867060 118867060 + Missense_Mutation SNP T T C TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr3:118867060T>C ENST00000295622.1 + 2 1472 c.1432T>C c.(1432-1434)Tat>Cat p.Y478H RP11-484M3.5_ENST00000490594.1_Intron NM_152539.2 NP_689752.2 Q96M34 CC030_HUMAN chromosome 3 open reading frame 30 478 NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(114;0.222) AGGAAAGGGTTATCATATACG 0.368000 23 71 0 0 1 0 0 YLPM1 56252 broad.mit.edu 37 14 75278336 75278336 + Nonsense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr14:75278336C>T ENST00000325680.7 + 10 5366 c.5242C>T c.(5242-5244)Cga>Tga p.R1748* YLPM1_ENST00000552421.1_Nonsense_Mutation_p.R1042*|YLPM1_ENST00000238571.3_Nonsense_Mutation_p.R1553* NM_019589.2 NP_062535.2 P49750 YLPM1_HUMAN YLP motif containing 1 1553 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 62 KIRC - Kidney renal clear cell carcinoma(43;0.238) BRCA - Breast invasive adenocarcinoma(234;0.00162) TCAGTCATATCGAGACAAAAA 0.433000 13 32 0 0 1 0 0 PTPRG 5793 broad.mit.edu 37 3 62257208 62257208 + Missense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr3:62257208G>A ENST00000474889.1 + 21 3537 c.3160G>A c.(3160-3162)Ggc>Agc p.G1054S PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000479018.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG-AS1_ENST00000475371.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA|PTPRG_ENST00000295874.10_Missense_Mutation_p.G1025S NM_002841.3 NP_002832.3 P23470 PTPRG_HUMAN protein tyrosine phosphatase, receptor type, G 1054 Tyrosine-protein phosphatase 1. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane identical protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065) GCCAGAAACGGGCCCTGTGTT 0.532000 19 33 0 0 1 0 0 MYO7B 4648 broad.mit.edu 37 2 128339518 128339518 + Missense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr2:128339518G>A ENST00000389524.4 + 11 1186 c.1133G>A c.(1132-1134)cGa>cAa p.R378Q MYO7B_ENST00000428314.1_Missense_Mutation_p.R378Q|MYO7B_ENST00000409816.2_Missense_Mutation_p.R378Q Q6PIF6 MYO7B_HUMAN myosin VIIB 378 Myosin head-like. apical plasma membrane|myosin complex actin binding|ATP binding|motor activity breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1) 75 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0753) ATCCTCATCCGAGGGGAATTT 0.627000 43 84 0 0 1 0 0 ITPR3 3710 broad.mit.edu 37 6 33608316 33608316 + Missense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr6:33608316C>T ENST00000374316.5 + 3 1205 c.145C>T c.(145-147)Cct>Tct p.P49S ITPR3_ENST00000605930.1_Missense_Mutation_p.P49S Q14573 ITPR3_HUMAN inositol 1,4,5-trisphosphate receptor, type 3 49 activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 85 GGACAACCCCCCTAAGAAGTT 0.612000 51 151 0 0 1 0 0 ZBTB46 140685 broad.mit.edu 37 20 62421280 62421280 + Silent SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr20:62421280C>T ENST00000245663.4 - 2 981 c.831G>A c.(829-831)gaG>gaA p.E277E ZBTB46_ENST00000395104.1_Silent_p.E277E|ZBTB46_ENST00000302995.2_Silent_p.E277E NM_025224.3 NP_079500.2 Q86UZ6 ZBT46_HUMAN zinc finger and BTB domain containing 46 277 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 24 all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09) GCCGGACGGTCTCTTTGTTTT 0.617000 31 76 0 0 1 0 0 NELL1 4745 broad.mit.edu 37 11 20869165 20869165 + Silent SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr11:20869165G>A ENST00000298925.5 + 5 609 c.456G>A c.(454-456)gaG>gaA p.E152E NELL1_ENST00000325319.5_Intron|NELL1_ENST00000357134.5_Silent_p.E124E|NELL1_ENST00000532434.1_Silent_p.E124E Q92832 NELL1_HUMAN NEL-like 1 (chicken) 124 TSP N-terminal. cell adhesion|nervous system development extracellular region calcium ion binding|structural molecule activity NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1) 70 TGAGGGATGAGATTCGGTATC 0.448000 9 33 0 0 1 0 0 VWF 7450 broad.mit.edu 37 12 6062751 6062751 + Missense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr12:6062751C>T ENST00000261405.5 - 48 8151 c.7897G>A c.(7897-7899)Gaa>Aaa p.E2633K NM_000552.3 NP_000543.2 P04275 VWF_HUMAN von Willebrand factor 2633 VWFC 3. blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5) 129 Antihemophilic Factor(DB00025) TTATTTTCTTCCTTGTAACCC 0.463000 27 75 0 0 1 0 0 SLC26A8 116369 broad.mit.edu 37 6 35965594 35965594 + Missense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr6:35965594G>A ENST00000490799.1 - 5 901 c.548C>T c.(547-549)tCg>tTg p.S183L SLC26A8_ENST00000355574.2_Missense_Mutation_p.S183L|SLC26A8_ENST00000394602.2_Missense_Mutation_p.S183L NM_052961.3 NP_443193.1 Q96RN1 S26A8_HUMAN solute carrier family 26 (anion exchanger), member 8 183 cell differentiation|meiosis|multicellular organismal development|spermatogenesis integral to membrane|plasma membrane anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2) 46 GGAGGGGGCCGAAAACTCATT 0.458000 17 36 0 0 1 0 0 CD86 942 broad.mit.edu 37 3 121825236 121825236 + Missense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr3:121825236G>A ENST00000330540.2 + 4 708 c.592G>A c.(592-594)Gac>Aac p.D198N CD86_ENST00000493101.1_Missense_Mutation_p.D86N|CD86_ENST00000393627.2_Missense_Mutation_p.D192N|CD86_ENST00000264468.5_Intron|CD86_ENST00000469710.1_Missense_Mutation_p.D116N NM_175862.4 NP_787058.4 P42081 CD86_HUMAN CD86 molecule 198 Ig-like C2-type. interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation coreceptor activity|protein binding breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3) 23 GBM - Glioblastoma multiforme(114;0.156) Abatacept(DB01281) AGAACTGTACGACGTTTCCAT 0.398000 35 72 0 0 1 0 0 PKHD1L1 93035 broad.mit.edu 37 8 110448605 110448605 + Missense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr8:110448605G>A ENST00000378402.5 + 30 3648 c.3544G>A c.(3544-3546)Gaa>Aaa p.E1182K NM_177531.4 NP_803875.2 Q86WI1 PKHL1_HUMAN polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 1182 IPT/TIG 5. immune response cytosol|extracellular space|integral to membrane receptor activity NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4) 263 OV - Ovarian serous cystadenocarcinoma(57;9.88e-13) TGGCTTTAATGAAAATTCAAA 0.343000 HNSCC(38;0.096) 17 42 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237729923 237729923 + Missense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr1:237729923G>A ENST00000366574.2 + 28 3588 c.3271G>A c.(3271-3273)Gag>Aag p.E1091K RYR2_ENST00000360064.6_Missense_Mutation_p.E1089K|RYR2_ENST00000542537.1_Missense_Mutation_p.E1075K NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1091 4 X approximate repeats.|B30.2/SPRY 2. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) CTTCCGTGCCGAGAAGACCTA 0.557000 37 73 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152831380 152831380 + Nonsense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr6:152831380G>A ENST00000367255.5 - 8 1130 c.529C>T c.(529-531)Caa>Taa p.Q177* SYNE1_ENST00000413186.2_Nonsense_Mutation_p.Q177*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.Q177*|SYNE1_ENST00000367253.4_Nonsense_Mutation_p.Q177*|SYNE1_ENST00000448038.1_Nonsense_Mutation_p.Q184*|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.Q184*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.Q177*|SYNE1_ENST00000466159.2_Nonsense_Mutation_p.Q177*|SYNE1_ENST00000367248.3_Nonsense_Mutation_p.Q184* NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 177 Actin-binding. cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) GCATTTCCTTGGATCTTGGTG 0.453000 HNSCC(10;0.0054) 28 91 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105410776 105410776 + Missense_Mutation SNP T T A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr14:105410776T>A ENST00000333244.5 - 7 11131 c.11012A>T c.(11011-11013)gAt>gTt p.D3671V AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 3671 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) GAGACTCACATCGGCTTCCAC 0.582000 90 188 0 0 1 0 0 DPP10 57628 broad.mit.edu 37 2 116548736 116548736 + Silent SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr2:116548736C>T ENST00000410059.1 + 18 2091 c.1611C>T c.(1609-1611)atC>atT p.I537I DPP10_ENST00000310323.8_Silent_p.I530I|DPP10_ENST00000393147.2_Silent_p.I541I|DPP10_ENST00000409163.1_Silent_p.I487I NM_001178037.1|NM_020868.3 NP_001171508.1|NP_065919.2 Q8N608 DPP10_HUMAN dipeptidyl-peptidase 10 (non-functional) 537 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 AAATTAAAATCCTTCATATTG 0.338000 3 20 0 0 1 0 0 PRDM1 639 broad.mit.edu 37 6 106553230 106553230 + Missense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr6:106553230C>T ENST00000369096.4 + 5 1429 c.1195C>T c.(1195-1197)Ccg>Tcg p.P399S PRDM1_ENST00000369089.3_Missense_Mutation_p.P265S|PRDM1_ENST00000369091.2_Missense_Mutation_p.P363S NM_001198.3 NP_001189.2 O75626 PRDM1_HUMAN PR domain containing 1, with ZNF domain 399 negative regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2) 94 Breast(9;0.022) all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365) all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05) GCCCCACCTCCCGCCAGCTTT 0.602000 """D, N, Mis, F, S""" DLBCL 24 40 0 0 1 0 0 EDEM1 9695 broad.mit.edu 37 3 5246867 5246867 + Missense_Mutation SNP A A T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr3:5246867A>T ENST00000256497.4 + 6 1291 c.1158A>T c.(1156-1158)aaA>aaT p.K386N EDEM1_ENST00000445686.1_Missense_Mutation_p.K191N NM_014674.2 NP_055489.1 Q92611 EDEM1_HUMAN ER degradation enhancer, mannosidase alpha-like 1 386 ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein integral to endoplasmic reticulum membrane calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 22 Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682) TTGGAGAAAAAGAAGACCTAG 0.443000 28 47 0 0 1 0 0 TCEB3B 51224 broad.mit.edu 37 18 44560257 44560257 + Missense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr18:44560257G>A ENST00000332567.4 - 1 1731 c.1379C>T c.(1378-1380)tCa>tTa p.S460L KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron NM_016427.2 NP_057511.2 Q8IYF1 ELOA2_HUMAN transcription elongation factor B polypeptide 3B (elongin A2) 460 regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 CCAGAGCTCTGAGAAGACATG 0.597000 41 99 0 0 1 0 0 PPFIA2 8499 broad.mit.edu 37 12 81688675 81688675 + Missense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr12:81688675C>T ENST00000550584.2 - 23 3159 c.2864G>A c.(2863-2865)cGa>cAa p.R955Q PPFIA2_ENST00000443686.3_Missense_Mutation_p.R856Q|PPFIA2_ENST00000407050.4_Missense_Mutation_p.R881Q|PPFIA2_ENST00000541570.2_Missense_Mutation_p.R522Q|PPFIA2_ENST00000552948.1_Missense_Mutation_p.R955Q|PPFIA2_ENST00000548586.1_Missense_Mutation_p.R955Q|RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000333447.7_Missense_Mutation_p.R940Q|PPFIA2_ENST00000541017.1_Missense_Mutation_p.R172Q|PPFIA2_ENST00000549396.1_Missense_Mutation_p.R955Q|PPFIA2_ENST00000549325.1_Missense_Mutation_p.R940Q|PPFIA2_ENST00000550359.2_Missense_Mutation_p.R802Q NM_001220473.1 NP_001207402.1 B7Z663 B7Z663_HUMAN protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 881 NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5) 85 GATTGCTAATCGAAGTTTTAA 0.483000 11 20 0 0 1 0 0 RANBP9 10048 broad.mit.edu 37 6 13642770 13642770 + Missense_Mutation SNP A A C TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr6:13642770A>C ENST00000011619.3 - 7 1224 c.1166T>G c.(1165-1167)tTt>tGt p.F389C RANBP9_ENST00000539980.1_Missense_Mutation_p.F160C NM_005493.2 NP_005484.2 Q96S59 RANB9_HUMAN RAN binding protein 9 389 LisH. axon guidance|microtubule nucleation|protein complex assembly cytosol|microtubule associated complex|nucleus Ran GTPase binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1) 16 Breast(50;0.00669)|Ovarian(93;0.0634) all_hematologic(90;0.117) Epithelial(50;0.223) AGATCTGGCAAAGGCCTCTGC 0.378000 16 38 0 0 1 0 0 DNAH5 1767 broad.mit.edu 37 5 13841033 13841033 + Silent SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr5:13841033C>T ENST00000265104.4 - 34 5795 c.5691G>A c.(5689-5691)agG>agA p.R1897R NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 1897 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CAAAGATATCCCTTTGGTGCA 0.398000 Kartagener syndrome 14 43 0 0 1 0 0 USH1C 10083 broad.mit.edu 37 11 17542898 17542898 + Missense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr11:17542898C>T ENST00000005226.7 - 13 1079 c.1080G>A c.(1078-1080)atG>atA p.M360I USH1C_ENST00000527720.1_Missense_Mutation_p.M329I|USH1C_ENST00000527020.1_Missense_Mutation_p.M341I|USH1C_ENST00000318024.4_Missense_Mutation_p.M360I NM_153676.3 NP_710142.1 Q9Y6N9 USH1C_HUMAN Usher syndrome 1C (autosomal recessive, severe) 360 equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound apical part of cell|cytoplasm|stereocilium protein binding central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 48 CTCACTGTTCCATCTCCTTCC 0.512000 49 126 0 0 1 0 0 ABCC10 89845 broad.mit.edu 37 6 43405718 43405718 + Missense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr6:43405718C>T ENST00000244533.3 + 5 2197 c.1838C>T c.(1837-1839)tCc>tTc p.S613F ABCC10_ENST00000372530.4_Missense_Mutation_p.S641F NM_033450.2 NP_258261.2 Q5T3U5 MRP7_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 10 641 ABC transporter 1. integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) GGGAAGAGCTCCCTGCTGGCT 0.562000 6 7 0 0 1 0 0 SPTBN4 57731 broad.mit.edu 37 19 41009884 41009884 + Missense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr19:41009884C>T ENST00000352632.3 + 12 1596 c.1510C>T c.(1510-1512)Cgg>Tgg p.R504W SPTBN4_ENST00000338932.3_Missense_Mutation_p.R504W|SPTBN4_ENST00000598249.1_Missense_Mutation_p.R504W|SPTBN4_ENST00000595535.1_Missense_Mutation_p.R504W|SPTBN4_ENST00000344104.3_Missense_Mutation_p.R504W Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 504 actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 73 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) CTACGATATCCGGCGGGTGGC 0.662000 19 24 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11039158 11039158 + RNA SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr21:11039158G>A ENST00000470054.1 - 0 1045 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) CCTCATGTGGGGACACTAAGG 0.398000 15 268 0 0 1 0 0 PCDHB8 56128 broad.mit.edu 37 5 140559284 140559284 + Missense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr5:140559284G>A ENST00000239444.2 + 1 1914 c.1669G>A c.(1669-1671)Gac>Aac p.D557N NM_019120.3 NP_061993.2 Q9UN66 PCDB8_HUMAN 557 Cadherin 5. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGACGCCAACGACAACTCGCC 0.711000 32 81 0 0 1 0 0 KCNJ5 3762 broad.mit.edu 37 11 128781675 128781675 + Silent SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr11:128781675G>A ENST00000529694.1 + 2 883 c.507G>A c.(505-507)ttG>ttA p.L169L KCNJ5_ENST00000533599.1_Silent_p.L169L|KCNJ5_ENST00000338350.4_Silent_p.L169L NM_000890.3 NP_000881.3 P48544 IRK5_HUMAN potassium inwardly-rectifying channel, subfamily J, member 5 169 synaptic transmission voltage-gated potassium channel complex G-protein activated inward rectifier potassium channel activity|protein binding NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 all_hematologic(175;0.0641) Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215) Glibenclamide(DB01016) TACTCCTCTTGGTCCAGGCCA 0.522000 50 113 0 0 1 0 0 KIF4B 285643 broad.mit.edu 37 5 154395273 154395273 + Silent SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr5:154395273G>A ENST00000435029.4 + 1 2014 c.1854G>A c.(1852-1854)gaG>gaA p.E618E NM_001099293.1 NP_001092763.1 Q2VIQ3 KIF4B_HUMAN kinesin family member 4B 618 axon guidance|blood coagulation|microtubule-based movement cytosol|microtubule|nuclear matrix ATP binding|DNA binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1) 58 Renal(175;0.00488) Medulloblastoma(196;0.0523) KIRC - Kidney renal clear cell carcinoma(527;0.00112) AACTGAATGAGCAGTCCAAAC 0.458000 33 70 0 0 1 0 0 CLDND1 56650 broad.mit.edu 37 3 98240107 98240107 + Silent SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr3:98240107G>A ENST00000503004.1 - 2 1041 c.162C>T c.(160-162)ttC>ttT p.F54F CLDND1_ENST00000513287.1_Silent_p.F54F|CLDND1_ENST00000341181.6_Silent_p.F54F|CLDND1_ENST00000508503.1_5'UTR|CLDND1_ENST00000507874.1_Silent_p.F54F|CLDND1_ENST00000502288.1_Intron|CLDND1_ENST00000394180.2_Silent_p.F54F|CLDND1_ENST00000394185.2_Silent_p.F54F|CLDND1_ENST00000511081.1_Intron|CLDND1_ENST00000437922.1_Silent_p.F77F|CLDND1_ENST00000510545.1_Silent_p.F54F|CLDND1_ENST00000394181.2_Silent_p.F54F Q9NY35 CLDN1_HUMAN claudin domain containing 1 54 integral to membrane central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1) 9 CATCACTAATGAATTCATCCC 0.403000 14 44 0 0 1 0 0 OR9G1 390174 broad.mit.edu 37 11 56468246 56468246 + Missense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr11:56468246C>T ENST00000312153.1 + 1 383 c.383C>T c.(382-384)cCc>cTc p.P128L NM_001005213.1 NP_001005213.1 olfactory receptor, family 9, subfamily G, member 1 breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1) 31 ATCTCCAAGCCCCTGCTTTAT 0.517000 30 129 0 0 1 0 0 MEP1B 4225 broad.mit.edu 37 18 29793125 29793125 + Silent SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr18:29793125G>A ENST00000269202.6 + 11 1229 c.1182G>A c.(1180-1182)gtG>gtA p.V394V MEP1B_ENST00000581447.1_Silent_p.V394V NM_005925.2 NP_005916.2 Q16820 MEP1B_HUMAN meprin A, beta 394 MAM. digestion|proteolysis extracellular space|integral to plasma membrane metalloendopeptidase activity|zinc ion binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 CATTGAAAGTGACCAAGAAGT 0.413000 24 43 0 0 1 0 0 MBD5 55777 broad.mit.edu 37 2 149247919 149247919 + Missense_Mutation SNP T T G TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr2:149247919T>G ENST00000407073.1 + 12 5016 c.4019T>G c.(4018-4020)tTt>tGt p.F1340C MBD5_ENST00000404807.1_Missense_Mutation_p.F1573C NM_018328.4 NP_060798.2 Q9P267 MBD5_HUMAN methyl-CpG binding domain protein 5 1340 chromosome|nucleus chromatin binding|DNA binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3) 62 BRCA - Breast invasive adenocarcinoma(221;0.0569) AATGGAGACTTTAATGCCAAA 0.438000 19 38 0 0 1 0 0 PCDHA3 56145 broad.mit.edu 37 5 140182207 140182207 + Silent SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr5:140182207C>T ENST00000522353.2 + 1 1425 c.1425C>T c.(1423-1425)ttC>ttT p.F475F PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Silent_p.F475F|PCDHA2_ENST00000526136.1_Intron NM_018906.2 NP_061729.1 NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCACATCTTCACGGTGTCTG 0.667000 5 213 0 0 1 0 0 CXCR1 3577 broad.mit.edu 37 2 219029413 219029413 + Silent SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr2:219029413G>A ENST00000295683.2 - 2 642 c.522C>T c.(520-522)ttC>ttT p.F174F NM_000634.2 NP_000625.1 P25024 CXCR1_HUMAN chemokine (C-X-C motif) receptor 1 174 dendritic cell chemotaxis|inflammatory response integral to membrane|plasma membrane interleukin-8 receptor activity endometrium(1)|large_intestine(2)|lung(7)|prostate(3) 13 AAGCCTGGCGGAAAAGGAAGA 0.517000 14 40 0 0 1 0 0 ZNF713 349075 broad.mit.edu 37 7 56007351 56007351 + Silent SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr7:56007351C>T ENST00000429591.2 + 4 983 c.945C>T c.(943-945)tcC>tcT p.S315S MRPS17_ENST00000426595.1_Intron NM_182633.1 NP_872439.1 Q8N859 ZN713_HUMAN zinc finger protein 713 315 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) AGCATTCATCCTTTACTCAAC 0.403000 42 75 0 0 1 0 0 MDN1 23195 broad.mit.edu 37 6 90438746 90438746 + Silent SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr6:90438746C>T ENST00000369393.3 - 36 5368 c.5253G>A c.(5251-5253)ctG>ctA p.L1751L MDN1_ENST00000428876.1_Silent_p.L1751L Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 1751 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) GGGAACCCTCCAGGAGAATGG 0.463000 18 41 0 0 1 0 0 PTK7 5754 broad.mit.edu 37 6 43096872 43096872 + Silent SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr6:43096872C>T ENST00000230419.4 + 2 458 c.237C>T c.(235-237)ttC>ttT p.F79F PTK7_ENST00000352931.2_Silent_p.F79F|PTK7_ENST00000345201.2_Silent_p.F79F|PTK7_ENST00000471863.1_Silent_p.F79F|PTK7_ENST00000349241.2_Silent_p.F79F|PTK7_ENST00000476760.1_Silent_p.F79F|PTK7_ENST00000481273.1_Silent_p.F87F NM_002821.4 NP_002812.2 Q13308 PTK7_HUMAN protein tyrosine kinase 7 79 Ig-like C2-type 1. actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration cell-cell junction|integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423) AGCGGCGTTTCGCCCAGGGCA 0.662000 23 31 0 0 1 0 0 ZNF585B 92285 broad.mit.edu 37 19 37677213 37677213 + Missense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr19:37677213G>A ENST00000532828.2 - 5 1477 c.1226C>T c.(1225-1227)tCg>tTg p.S409L ZNF585B_ENST00000312908.5_5'UTR|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000527838.1_3'UTR|ZNF585B_ENST00000531805.1_Missense_Mutation_p.S354L NM_152279.3 NP_689492.3 Q52M93 Z585B_HUMAN zinc finger protein 585B 409 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1) 29 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) GCATATATACGATTTTTCTCC 0.423000 21 23 0 0 1 0 0 LRRC43 254050 broad.mit.edu 37 12 122674734 122674734 + Missense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr12:122674734G>A ENST00000339777.4 + 5 748 c.720G>A c.(718-720)atG>atA p.M240I LRRC43_ENST00000425921.1_Missense_Mutation_p.M55I NM_152759.4 NP_689972.3 Q8N309 LRC43_HUMAN leucine rich repeat containing 43 240 NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2) 19 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225) TGCAGAGCATGGTCACCAGCC 0.647000 56 107 0 0 1 0 0 FOLH1B 219595 broad.mit.edu 37 11 89431672 89431672 + RNA SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr11:89431672G>A ENST00000532352.1 + 0 1954 Q9HBA9 FOH1B_HUMAN folate hydrolase 1B proteolysis cytoplasm dipeptidase activity|metal ion binding|metallopeptidase activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2) 48 AAGCAAAGTGGACCCTTCCAA 0.483000 40 96 0 0 1 0 0 TACC2 10579 broad.mit.edu 37 10 123969945 123969945 + Missense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr10:123969945G>A ENST00000369005.1 + 9 6345 c.6005G>A c.(6004-6006)gGc>gAc p.G2002D TACC2_ENST00000515273.1_Missense_Mutation_p.G2006D|TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000453444.2_Missense_Mutation_p.G2006D|TACC2_ENST00000515603.1_Missense_Mutation_p.G1957D|TACC2_ENST00000368999.1_Missense_Mutation_p.G80D|TACC2_ENST00000369004.3_Missense_Mutation_p.G80D|TACC2_ENST00000260733.3_Missense_Mutation_p.G80D|TACC2_ENST00000493951.1_3'UTR|TACC2_ENST00000358010.1_Missense_Mutation_p.G148D|TACC2_ENST00000369001.1_5'UTR|TACC2_ENST00000360561.3_Missense_Mutation_p.G80D|TACC2_ENST00000334433.3_Missense_Mutation_p.G2002D|TACC2_ENST00000513429.1_Missense_Mutation_p.G148D NM_206862.2 NP_996744.2 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing protein 2 2002 Pro-rich. microtubule organizing center|nucleus nuclear hormone receptor binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 83 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) GTCCCTGATGGCCCACGGAGC 0.572000 6 10 0 0 1 0 0 FCER1A 2205 broad.mit.edu 37 1 159273754 159273754 + Nonsense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr1:159273754G>A ENST00000368115.1 + 4 212 c.113G>A c.(112-114)tGg>tAg p.W38* FCER1A_ENST00000368114.1_Intron NM_002001.3 NP_001992.1 P12319 FCERA_HUMAN Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide 38 Ig-like 1. integral to plasma membrane autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 all_hematologic(112;0.0429) Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043) AACCCTCCATGGAATAGAATA 0.368000 15 35 0 0 1 0 0 ARGFX 503582 broad.mit.edu 37 3 121303794 121303794 + Missense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr3:121303794C>T ENST00000334384.3 + 3 261 c.251C>T c.(250-252)tCt>tTt p.S84F NM_001012659.1 NP_001012677.1 A6NJG6 ARGFX_HUMAN arginine-fifty homeobox 84 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 15 GBM - Glioblastoma multiforme(114;0.152) GAACGTACTTCTTTCACCCAC 0.438000 61 131 0 0 1 0 0 NFRKB 4798 broad.mit.edu 37 11 129739745 129739745 + Missense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr11:129739745G>A ENST00000446488.3 - 23 3278 c.3175C>T c.(3175-3177)Cgc>Tgc p.R1059C NFRKB_ENST00000524794.1_Missense_Mutation_p.R1084C|NFRKB_ENST00000304521.5_Missense_Mutation_p.R1059C|NFRKB_ENST00000524746.1_Missense_Mutation_p.R1059C NM_001143835.1 NP_001137307.1 Q6P4R8 NFRKB_HUMAN nuclear factor related to kappaB binding protein 1059 DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Ino80 complex DNA binding|protease binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1) 32 all_hematologic(175;0.0537) Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184) GGCATCAAGCGAAAAGCCGAA 0.552000 12 46 0 0 1 0 0 SEZ6L 23544 broad.mit.edu 37 22 26688983 26688983 + Missense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr22:26688983G>A ENST00000529632.2 + 2 902 c.706G>A c.(706-708)Gac>Aac p.D236N SEZ6L_ENST00000403121.1_Missense_Mutation_p.D9N|SEZ6L_ENST00000360929.3_Missense_Mutation_p.D236N|SEZ6L_ENST00000343706.4_Missense_Mutation_p.D236N|SEZ6L_ENST00000404234.3_Missense_Mutation_p.D236N|SEZ6L_ENST00000248933.6_Missense_Mutation_p.D236N|SEZ6L_ENST00000402979.1_Missense_Mutation_p.D9N NM_001184774.1|NM_001184775.1|NM_001184777.1 NP_001171703.1|NP_001171704.1|NP_001171706.1 Q9BYH1 SE6L1_HUMAN seizure related 6 homolog (mouse)-like 236 endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 80 CCCCCAGGAGGACACCAGCCC 0.637000 26 50 0 0 1 0 0 SAA2 6289 broad.mit.edu 37 11 18266985 18266985 + Nonsense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr11:18266985C>T ENST00000526900.1 - 4 491 c.308G>A c.(307-309)tGg>tAg p.W103* SAA2_ENST00000256733.4_Nonsense_Mutation_p.W103*|SAA2_ENST00000530400.1_Intron|SAA2_ENST00000529528.1_Nonsense_Mutation_p.W103*|SAA2_ENST00000528349.1_Intron|SAA2-SAA4_ENST00000524555.1_RNA|SAA2_ENST00000414546.2_Intron serum amyloid A2 central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(1) 6 ACTCCTGCCCCATTTATTGGC 0.567000 16 45 0 0 1 0 0 FAM122B 159090 broad.mit.edu 37 X 133922779 133922779 + Missense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chrX:133922779G>A ENST00000370790.1 - 5 1287 c.359C>T c.(358-360)cCc>cTc p.P120L FAM122B_ENST00000486347.1_Missense_Mutation_p.P120L|FAM122B_ENST00000343004.5_Missense_Mutation_p.P139L|FAM122B_ENST00000493333.1_5'UTR|FAM122B_ENST00000298090.6_Missense_Mutation_p.P139L NM_001166599.2|NM_145284.5 NP_001160071.1|NP_660327.2 Q7Z309 F122B_HUMAN family with sequence similarity 122B 120 breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|skin(1) 6 Acute lymphoblastic leukemia(192;0.000127) TCCCCTGGTGGGTGAAGGTGC 0.398000 25 28 0 0 1 0 0 SCN10A 6336 broad.mit.edu 37 3 38739353 38739353 + Silent SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr3:38739353G>A ENST00000449082.2 - 27 5357 c.5358C>T c.(5356-5358)atC>atT p.I1786I NM_006514.2 NP_006505.2 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha subunit 1786 sensory perception voltage-gated sodium channel complex NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 150 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) GGTCCATCTGGATCAGTATAT 0.478000 27 39 0 0 1 0 0 OR1K1 392392 broad.mit.edu 37 9 125562841 125562841 + Missense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr9:125562841G>A ENST00000277309.2 + 1 472 c.440G>A c.(439-441)gGa>gAa p.G147E NM_080859.1 NP_543135.1 Q8NGR3 OR1K1_HUMAN olfactory receptor, family 1, subfamily K, member 1 147 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1) 17 GCCCTGGTGGGAATGGCATGG 0.617000 8 54 0 0 1 0 0 C5 727 broad.mit.edu 37 9 123812483 123812483 + Silent SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr9:123812483C>T ENST00000223642.1 - 1 71 c.42G>A c.(40-42)ggG>ggA p.G14G NM_001735.2 NP_001726.2 P01031 CO5_HUMAN complement component 5 14 activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production extracellular space|membrane attack complex chemokine activity|endopeptidase inhibitor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242) Eculizumab(DB01257) CCCAGGTTTTCCCCAGGAAGA 0.373000 9 112 0 0 1 0 0 SCN11A 11280 broad.mit.edu 37 3 38927711 38927711 + Missense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr3:38927711C>T ENST00000450244.1 - 16 3052 c.2854G>A c.(2854-2856)Gag>Aag p.E952K SCN11A_ENST00000456224.3_Intron|SCN11A_ENST00000302328.3_Missense_Mutation_p.E952K|SCN11A_ENST00000444237.2_Missense_Mutation_p.E952K Q9UI33 SCNBA_HUMAN sodium channel, voltage-gated, type XI, alpha subunit 952 response to drug voltage-gated sodium channel complex voltage-gated sodium channel activity NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3) 119 Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226) Cocaine(DB00907) TTCTTGTTCTCCTGATGGAGC 0.433000 5 20 0 0 1 0 0 KCNJ1 3758 broad.mit.edu 37 11 128709513 128709513 + Missense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr11:128709513C>T ENST00000392665.2 - 2 770 c.626G>A c.(625-627)gGa>gAa p.G209E KCNJ1_ENST00000392666.1_Missense_Mutation_p.G209E|KCNJ1_ENST00000392664.2_Missense_Mutation_p.G228E|KCNJ1_ENST00000324036.3_Missense_Mutation_p.G209E|KCNJ1_ENST00000440599.2_Missense_Mutation_p.G209E NM_153764.2 NP_722448.1 P48048 IRK1_HUMAN potassium inwardly-rectifying channel, subfamily J, member 1 228 excretion voltage-gated potassium channel complex ATP binding|inward rectifier potassium channel activity breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1) 23 all_hematologic(175;0.0641) all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425) OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942) Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124) CAGAAGCTTTCCATAAATGTG 0.443000 49 90 0 0 1 0 0 CD81-AS1 101927682 broad.mit.edu 37 11 2356706 2356706 + RNA SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr11:2356706C>T ENST00000413483.1 - 0 407 RPL26P30_ENST00000602923.1_RNA ACAGTCGTGCCGTTGGCCTTC 0.488000 65 129 0 0 1 0 0 PCDHA5 56143 broad.mit.edu 37 5 140202425 140202425 + Silent SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr5:140202425C>T ENST00000529859.1 + 1 1065 c.1065C>T c.(1063-1065)ttC>ttT p.F355F PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Silent_p.F355F|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000378126.3_Silent_p.F355F|PCDHA2_ENST00000526136.1_Intron NM_018908.2 NP_061731.1 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CCACCCTTTTCCTGCCTGTCA 0.498000 38 63 0 0 1 0 0 PLCB4 5332 broad.mit.edu 37 20 9360725 9360725 + Missense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr20:9360725G>A ENST00000378501.2 + 10 784 c.769G>A c.(769-771)Gaa>Aaa p.E257K PLCB4_ENST00000378493.1_Missense_Mutation_p.E257K|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378473.3_Missense_Mutation_p.E257K|PLCB4_ENST00000334005.3_Missense_Mutation_p.E257K|PLCB4_ENST00000278655.4_Missense_Mutation_p.E257K|PLCB4_ENST00000414679.2_Missense_Mutation_p.E257K NM_000933.3 NP_000924.3 Q15147 PLCB4_HUMAN phospholipase C, beta 4 257 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 TCGATTGAATGAAATTTTATT 0.308000 8 22 0 0 1 0 0 NFATC3 4775 broad.mit.edu 37 16 68156440 68156440 + Silent SNP C C A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr16:68156440C>A ENST00000349223.5 + 2 878 c.654C>A c.(652-654)ggC>ggA p.G218G NFATC3_ENST00000346183.3_Silent_p.G218G|NFATC3_ENST00000329524.4_Silent_p.G218G|NFATC3_ENST00000575270.1_Silent_p.G218G|NFATC3_ENST00000535127.2_3'UTR NM_173163.2 NP_775186.1 Q12968 NFAC3_HUMAN nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3 218 3 X SP repeats. inflammatory response|transcription from RNA polymerase II promoter nucleolus|plasma membrane DNA binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 44 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24) CTCCAGGGGGCTGCCCTGGAG 0.498000 33 69 3.90053e-15 3.96369e-15 1 1 0 FYB 2533 broad.mit.edu 37 5 39202662 39202662 + Missense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr5:39202662C>T ENST00000351578.6 - 2 591 c.401G>A c.(400-402)gGa>gAa p.G134E FYB_ENST00000540520.1_Missense_Mutation_p.G144E|FYB_ENST00000505428.1_Missense_Mutation_p.G134E|FYB_ENST00000512982.1_Missense_Mutation_p.G134E|FYB_ENST00000515010.1_Missense_Mutation_p.G134E NM_199335.3 NP_955367.1 O15117 FYB_HUMAN FYN binding protein 134 cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway cytosol|nucleus protein binding endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1) 45 all_lung(31;0.000343) Epithelial(62;0.235) TGGCTTGTTTCCAGGAGGCCA 0.498000 40 70 0 0 1 0 0 PAX1 5075 broad.mit.edu 37 20 21686973 21686973 + Missense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr20:21686973G>A ENST00000444366.2 + 1 113 c.112G>A c.(112-114)Gaa>Aaa p.E38K PAX1_ENST00000398485.2_Intron|PAX1_ENST00000460221.1_Intron P15863 PAX1_HUMAN paired box 1 346 regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter nucleus DNA binding autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3) 38 GTCACCTTTGGAAGTGCGCCT 0.672000 7 13 0 0 1 0 0 ZNF658 26149 broad.mit.edu 37 9 40773305 40773305 + Missense_Mutation SNP G G A rs146060713 TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr9:40773305G>A ENST00000602553.1 - 5 2264 c.1970C>T c.(1969-1971)cCc>cTc p.P657L ZNF658_ENST00000377626.3_Missense_Mutation_p.P657L|ZNF658_ENST00000441795.1_Intron Q5TYW1 ZN658_HUMAN zinc finger protein 658 657 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 46 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) ACATTCATAGGGTTTCTCCCC 0.423000 66 97 0 0 1 0 0 SLC6A19 340024 broad.mit.edu 37 5 1216926 1216926 + Missense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr5:1216926G>A ENST00000304460.10 + 8 1095 c.1039G>A c.(1039-1041)Ggg>Agg p.G347R NM_001003841.2 NP_001003841.1 Q695T7 S6A19_HUMAN solute carrier family 6 (neutral amino acid transporter), member 19 347 cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10) Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) CCTCATCAACGGGTTCGACCT 0.652000 54 110 0 0 1 0 0 RAP1GAP2 23108 broad.mit.edu 37 17 2923836 2923836 + Silent SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr17:2923836C>T ENST00000254695.8 + 19 1788 c.1698C>T c.(1696-1698)ctC>ctT p.L566L RAP1GAP2_ENST00000542807.1_Silent_p.L566L|RAP1GAP2_ENST00000366401.4_Silent_p.L551L|RAP1GAP2_ENST00000540393.2_Silent_p.L547L NM_015085.4 NP_055900.4 Q684P5 RPGP2_HUMAN RAP1 GTPase activating protein 2 566 regulation of small GTPase mediated signal transduction centrosome|cytosol|perinuclear region of cytoplasm GTPase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 11 GCTCGGGGCTCTTCCCCCGCC 0.632000 19 34 0 0 1 0 0 EIF2AK4 440275 broad.mit.edu 37 15 40290939 40290939 + Missense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr15:40290939C>T ENST00000263791.5 + 20 2919 c.2876C>T c.(2875-2877)tCg>tTg p.S959L EIF2AK4_ENST00000382727.2_Missense_Mutation_p.S931L NM_001013703.2 NP_001013725.2 Q9P2K8 E2AK4_HUMAN eukaryotic translation initiation factor 2 alpha kinase 4 959 Protein kinase 2. translation cytosolic ribosome aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1) 40 all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119) GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616) TAGCCCACTTCGCCTAAGTTT 0.348000 12 10 0 0 1 0 0 SMO 6608 broad.mit.edu 37 7 128850261 128850261 + Silent SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr7:128850261G>A ENST00000249373.3 + 9 1804 c.1524G>A c.(1522-1524)gaG>gaA p.E508E RP11-286H14.8_ENST00000466717.1_RNA NM_005631.4 NP_005622.1 Q99835 SMO_HUMAN smoothened, frizzled family receptor 508 adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 CTGACTGTGAGATCAAGAATC 0.552000 Mis skin basal cell OREG0018305 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 25 70 0 0 1 0 0 KCNU1 157855 broad.mit.edu 37 8 36776350 36776350 + Missense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr8:36776350C>T ENST00000399881.3 + 23 2568 c.2531C>T c.(2530-2532)cCa>cTa p.P844L NM_001031836.2 NP_001027006.2 A8MYU2 KCNU1_HUMAN potassium channel, subfamily U, member 1 844 voltage-gated potassium channel complex binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1) 57 KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634) GAGGAGACTCCAGGTTACACA 0.373000 27 68 0 0 1 0 0 OR13C8 138802 broad.mit.edu 37 9 107331678 107331678 + Missense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr9:107331678C>T ENST00000335040.1 + 1 230 c.230C>T c.(229-231)tCt>tTt p.S77F NM_001004483.1 NP_001004483.1 Q8NGS7 O13C8_HUMAN olfactory receptor, family 13, subfamily C, member 8 77 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1) 25 ACAAGTTCCTCTGTCCCACTA 0.443000 56 71 0 0 1 0 0 OR12D2 26529 broad.mit.edu 37 6 29364949 29364949 + Missense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr6:29364949C>T ENST00000383555.2 + 1 534 c.473C>T c.(472-474)tCc>tTc p.S158F OR5V1_ENST00000377154.1_Intron NM_013936.3 NP_039224.2 P58182 O12D2_HUMAN olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene) 158 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 31 CTGCTGCACTCCGTAATGACT 0.483000 53 79 0 0 1 0 0 STAB1 23166 broad.mit.edu 37 3 52538855 52538855 + Missense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr3:52538855C>T ENST00000321725.6 + 12 1416 c.1340C>T c.(1339-1341)gCc>gTc p.A447V NM_015136.2 NP_055951.2 Q9NY15 STAB1_HUMAN stabilin 1 447 FAS1 1. cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis integral to plasma membrane bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 76 BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482) TGGACGCTGGCCGGGCAGGAG 0.602000 5 34 0 0 1 0 0 EIF3F 8665 broad.mit.edu 37 11 8008878 8008878 + Silent SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr11:8008878C>T ENST00000537635.1 + 1 442 c.24C>T c.(22-24)tcC>tcT p.S8S EIF3F_ENST00000309828.4_5'UTR|EIF3F_ENST00000533626.1_5'UTR O00303 EIF3F_HUMAN eukaryotic translation initiation factor 3, subunit F 0 cytosol|eukaryotic translation initiation factor 3 complex protein binding|translation initiation factor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1) 13 Epithelial(150;1.44e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) TTTCCGCTTCCGCCTCCTTCT 0.547000 OREG0020726 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 97 217 0 0 1 0 0 UGT2A2 574537 broad.mit.edu 37 4 70505092 70505092 + Missense_Mutation SNP C C G TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr4:70505092C>G ENST00000457664.2 - 1 266 c.267G>C c.(265-267)aaG>aaC p.K89N UGT2A1_ENST00000512704.1_Intron|UGT2A1_ENST00000286604.4_Intron|UGT2A1_ENST00000514019.1_Missense_Mutation_p.K290N|UGT2A1_ENST00000503640.1_Intron NM_001105677.2 NP_001099147.2 CTATATTGCTCTTCTTGTAGG 0.388000 29 69 0 0 1 0 0 AKAP3 10566 broad.mit.edu 37 12 4736271 4736271 + Silent SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr12:4736271C>T ENST00000545990.2 - 5 2321 c.1797G>A c.(1795-1797)cgG>cgA p.R599R AKAP3_ENST00000228850.1_Silent_p.R599R NM_001278309.1 NP_001265238.1 O75969 AKAP3_HUMAN A kinase (PRKA) anchor protein 3 599 acrosome reaction|cellular component movement acrosomal vesicle protein kinase A binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1) 51 TAAGTAAGTTCCGGATGAAAT 0.458000 28 89 0 0 1 0 0 SPOCK3 50859 broad.mit.edu 37 4 167658744 167658744 + Missense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr4:167658744G>A ENST00000357154.3 - 11 1152 c.1015C>T c.(1015-1017)Ccc>Tcc p.P339S SPOCK3_ENST00000421836.2_Missense_Mutation_p.P288S|SPOCK3_ENST00000357545.4_Missense_Mutation_p.P336S|SPOCK3_ENST00000512681.1_Missense_Mutation_p.P241S|SPOCK3_ENST00000506886.1_Missense_Mutation_p.P339S|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000511531.1_Missense_Mutation_p.P339S|SPOCK3_ENST00000504953.1_Missense_Mutation_p.P336S|SPOCK3_ENST00000511269.1_Missense_Mutation_p.P336S|SPOCK3_ENST00000541354.1_Missense_Mutation_p.P219S|SPOCK3_ENST00000535728.1_Missense_Mutation_p.P207S|SPOCK3_ENST00000502330.1_Missense_Mutation_p.P339S|SPOCK3_ENST00000534949.1_Missense_Mutation_p.P243S|SPOCK3_ENST00000510741.1_Missense_Mutation_p.P296S|SPOCK3_ENST00000541637.1_Missense_Mutation_p.P241S NM_016950.2 NP_058646.2 Q9BQ16 TICN3_HUMAN sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 339 Thyroglobulin type-1. signal transduction proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase inhibitor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 38 all_hematologic(180;0.221) Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198) GBM - Glioblastoma multiforme(119;0.02) TCACACAGGGGGATATACTGT 0.428000 33 71 0 0 1 0 0 SLC22A10 387775 broad.mit.edu 37 11 63067088 63067088 + Silent SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr11:63067088C>T ENST00000544661.1 + 7 1020 c.592C>T c.(592-594)Ctg>Ttg p.L198L SLC22A10_ENST00000332793.6_Silent_p.L353L|SLC22A10_ENST00000535888.1_Silent_p.L143L|SLC22A10_ENST00000525620.1_3'UTR|SLC22A10_ENST00000526800.1_Silent_p.L193L Q63ZE4 S22AA_HUMAN solute carrier family 22, member 10 353 integral to membrane transmembrane transporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 GATCTGTATCCTGGTATTTTT 0.428000 11 22 0 0 1 0 0 FAM107A 11170 broad.mit.edu 37 3 58552978 58552978 + Missense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr3:58552978G>A ENST00000394481.1 - 4 842 c.284C>T c.(283-285)cCc>cTc p.P95L FAM107A_ENST00000464064.1_Missense_Mutation_p.P95L|FAM107A_ENST00000447756.2_Missense_Mutation_p.P123L|FAM107A_ENST00000360997.2_Missense_Mutation_p.P95L|FAM107A_ENST00000474531.1_Missense_Mutation_p.P126L NM_007177.2 NP_009108.1 O95990 F107A_HUMAN family with sequence similarity 107, member A 95 regulation of cell growth nucleus protein binding breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 13 BRCA - Breast invasive adenocarcinoma(55;0.000189)|Kidney(10;0.000536)|KIRC - Kidney renal clear cell carcinoma(10;0.000716)|OV - Ovarian serous cystadenocarcinoma(275;0.154) CTGCTCAAAGGGGCACTGCAG 0.637000 15 28 0 0 1 0 0 PKP4 8502 broad.mit.edu 37 2 159519815 159519815 + Missense_Mutation SNP C C G TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr2:159519815C>G ENST00000389757.3 + 15 2560 c.2435C>G c.(2434-2436)tCg>tGg p.S812W PKP4_ENST00000495123.1_3'UTR|AC005042.4_ENST00000342892.4_RNA|PKP4_ENST00000389759.3_Missense_Mutation_p.S812W NM_001005476.1 NP_001005476.1 Q99569 PKP4_HUMAN plakophilin 4 812 cell adhesion desmosome protein binding p.S812L(1) breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 61 CCAGGACTGTCGAAGTCCCCC 0.483000 HNSCC(62;0.18) 7 43 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179498590 179498590 + Silent SNP T T C TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr2:179498590T>C ENST00000589042.1 - 231 42860 c.42636A>G c.(42634-42636)aaA>aaG p.K14212K TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Silent_p.K12571K|TTN_ENST00000359218.5_Silent_p.K5272K|TTN_ENST00000342175.6_Silent_p.K5339K|TTN_ENST00000460472.2_Silent_p.K5147K|TTN_ENST00000342992.6_Silent_p.K11644K|TTN-AS1_ENST00000589487.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 12571 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) TGACTTGAGCTTTTATCTGAG 0.428000 60 127 0 0 1 0 0 ITGB3 3690 broad.mit.edu 37 17 45384967 45384967 + Missense_Mutation SNP A A G TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr17:45384967A>G ENST00000560629.1 + 14 2230 c.2230A>G c.(2230-2232)Att>Gtt p.I744V ITGB3_ENST00000435993.2_Silent_p.K708K|RP11-290H9.4_ENST00000575039.1_RNA|ITGB3_ENST00000559488.1_Silent_p.K755K P05106 ITB3_HUMAN integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) 0 activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 39 Abciximab(DB00054)|Tirofiban(DB00775) AATTCGCTAAATTTGAGGAAG 0.517000 19 32 0 0 1 0 0 DGCR2 9993 broad.mit.edu 37 22 19035969 19035969 + Silent SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr22:19035969G>A ENST00000263196.7 - 7 1237 c.990C>T c.(988-990)ttC>ttT p.F330F DGCR2_ENST00000545799.1_3'UTR|DGCR2_ENST00000537045.1_Silent_p.F289F NM_001184781.1|NM_005137.2 NP_001171710.1|NP_005128.1 P98153 IDD_HUMAN DiGeorge syndrome critical region gene 2 330 VWFC. cell adhesion|organ morphogenesis integral to membrane receptor activity|sugar binding breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1) 18 Colorectal(54;0.0993) CCAGACACATGAACTTGCAGC 0.597000 92 181 0 0 1 0 0 TSC1 7248 broad.mit.edu 37 9 135797353 135797353 + Silent SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr9:135797353C>T ENST00000298552.3 - 7 737 c.516G>A c.(514-516)gtG>gtA p.V172V TSC1_ENST00000403810.1_Silent_p.V172V|TSC1_ENST00000475903.1_5'UTR|TSC1_ENST00000440111.2_Silent_p.V172V|TSC1_ENST00000545250.1_Silent_p.V121V NM_000368.4|NM_001162426.1|NM_001162427.1 NP_000359.1|NP_001155898.1|NP_001155899.1 Q92574 TSC1_HUMAN tuberous sclerosis 1 172 activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus cell cortex|lamellipodium|membrane|TSC1-TSC2 complex chaperone binding|protein N-terminus binding p.?(1) NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 65 OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06) AGACTTCCGCCACGTGGCCTA 0.488000 """D, Mis, N, F, S""" """hamartoma, renal cell""" Tuberous Sclerosis 32 52 0 0 1 0 0 SEMG2 6407 broad.mit.edu 37 20 43850353 43850353 + Missense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr20:43850353G>A ENST00000372769.3 + 2 170 c.80G>A c.(79-81)gGa>gAa p.G27E NM_003008.2 NP_002999.1 Q02383 SEMG2_HUMAN semenogelin II 27 sexual reproduction extracellular space|stored secretory granule structural molecule activity autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 Myeloproliferative disorder(115;0.0122) TTACCAGGTGGATCAAAAGGC 0.393000 27 65 0 0 1 0 0 ARHGAP36 158763 broad.mit.edu 37 X 130215792 130215792 + Silent SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chrX:130215792G>A ENST00000276211.5 + 2 498 c.153G>A c.(151-153)tcG>tcA p.S51S ARHGAP36_ENST00000370922.1_Silent_p.S39S NM_144967.3 NP_659404.2 Q6ZRI8 RHG36_HUMAN Rho GTPase activating protein 36 51 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2) 71 AGATGGTATCGATACACAGCC 0.532000 57 156 0 0 1 0 0 PACRG 135138 broad.mit.edu 37 6 163235304 163235304 + Silent SNP C C T rs76289683 TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr6:163235304C>T ENST00000337019.3 + 3 506 c.282C>T c.(280-282)atC>atT p.I94I PACRG_ENST00000366888.2_Silent_p.I94I|PACRG_ENST00000366889.2_Silent_p.I94I|PACRG_ENST00000542669.1_3'UTR NM_152410.2 NP_689623.2 Q96M98 PACRG_HUMAN PARK2 co-regulated 94 endometrium(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203) OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242) GAAACAAAATCGCCTGGAAGG 0.478000 37 68 0 0 1 0 0 CILP 8483 broad.mit.edu 37 15 65490353 65490353 + Silent SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr15:65490353C>T ENST00000261883.4 - 9 2437 c.2271G>A c.(2269-2271)agG>agA p.R757R NM_003613.3 NP_003604.3 O75339 CILP1_HUMAN cartilage intermediate layer protein, nucleotide pyrophosphohydrolase 757 negative regulation of insulin-like growth factor receptor signaling pathway extracellular matrix part|extracellular space|proteinaceous extracellular matrix breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1) 55 TCCGGTAGGCCCTCACCTTAA 0.532000 62 132 0 0 1 0 0 DAPK3 1613 broad.mit.edu 37 19 3964251 3964251 + Missense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr19:3964251C>T ENST00000545797.2 - 4 787 c.544G>A c.(544-546)Gag>Aag p.E182K DAPK3_ENST00000301264.3_Missense_Mutation_p.E182K O43293 DAPK3_HUMAN death-associated protein kinase 3 182 Protein kinase. apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade cytoplasm|PML body ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2) 21 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18) CCCACAAACTCCGGGGTGCCG 0.652000 10 15 0 0 1 0 0 FCRLA 84824 broad.mit.edu 37 1 161682926 161682926 + Missense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr1:161682926C>T ENST00000367959.2 + 6 1147 c.905C>T c.(904-906)tCa>tTa p.S302L FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000349527.4_Missense_Mutation_p.S184L|FCRLA_ENST00000236938.6_Missense_Mutation_p.S296L|FCRLA_ENST00000309691.6_Missense_Mutation_p.S190L|FCRLA_ENST00000367953.3_Missense_Mutation_p.S285L|FCRLA_ENST00000350710.3_Missense_Mutation_p.S61L|FCRLA_ENST00000367949.2_Missense_Mutation_p.S112L|FCRLA_ENST00000367950.1_Missense_Mutation_p.S72L|FCRLA_ENST00000367957.2_Missense_Mutation_p.S156L|FCRLA_ENST00000294796.4_Missense_Mutation_p.S145L|FCRLA_ENST00000546024.1_Missense_Mutation_p.S207L|FCRLA_ENST00000540926.1_Missense_Mutation_p.S285L|FCRLA_ENST00000540521.1_Missense_Mutation_p.S162L NM_001184866.1 NP_001171795.1 Q7L513 FCRLA_HUMAN Fc receptor-like A 279 Pro-rich. cell differentiation cytoplasm|extracellular region breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1) 34 all_cancers(52;2.55e-15)|all_hematologic(112;0.0359) BRCA - Breast invasive adenocarcinoma(70;0.00301) CCTCAGAAATCAGCTGCTCCA 0.577000 49 114 0 0 1 0 0 ZNF479 90827 broad.mit.edu 37 7 57188088 57188088 + Missense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr7:57188088C>T ENST00000331162.4 - 5 1304 c.1034G>A c.(1033-1035)aGa>aAa p.R345K NM_033273.1 NP_150376.1 Q96JC4 ZN479_HUMAN zinc finger protein 479 345 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R345I(1)|p.R345T(1) NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 84 GBM - Glioblastoma multiforme(1;9.18e-12) AGTATGAATTCTCTTATGTCT 0.443000 5 36 0 0 1 0 0 ZUFSP 221302 broad.mit.edu 37 6 116988313 116988313 + Missense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr6:116988313G>A ENST00000368576.3 - 2 286 c.43C>T c.(43-45)Cca>Tca p.P15S ZUFSP_ENST00000368573.1_Missense_Mutation_p.P15S|ZUFSP_ENST00000471919.1_Intron NM_145062.2 NP_659499.2 Q96AP4 ZUFSP_HUMAN zinc finger with UFM1-specific peptidase domain 15 intracellular zinc ion binding NS(1)|endometrium(2)|kidney(6)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 21 GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186) TTCATGTCTGGTTCTGAGGTT 0.328000 25 57 0 0 1 0 0 ZC3H12B 340554 broad.mit.edu 37 X 64722946 64722946 + Missense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chrX:64722946G>A ENST00000338957.4 + 5 2435 c.2368G>A c.(2368-2370)Gaa>Aaa p.E790K ZC3H12B_ENST00000423889.3_Missense_Mutation_p.E779K NM_001010888.3 NP_001010888.3 Q5HYM0 ZC12B_HUMAN zinc finger CCCH-type containing 12B 779 endonuclease activity|nucleic acid binding|zinc ion binding breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 TATGATCCCAGAACACCAGTA 0.493000 30 69 0 0 1 0 0 HEATR4 399671 broad.mit.edu 37 14 73967417 73967417 + Missense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr14:73967417C>T ENST00000553558.1 - 12 2444 c.2123G>A c.(2122-2124)gGa>gAa p.G708E HEATR4_ENST00000334988.2_Missense_Mutation_p.G708E|HEATR4_ENST00000560393.1_Missense_Mutation_p.G661E NM_001220484.1 NP_001207413.1 HEAT repeat containing 4 breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 28 BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719) CTGGGAATTTCCTTGACCTAG 0.498000 15 41 0 0 1 0 0 FAM154A 158297 broad.mit.edu 37 9 18928949 18928949 + Missense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr9:18928949C>T ENST00000380534.4 - 4 805 c.526G>A c.(526-528)Gat>Aat p.D176N FAM154A_ENST00000542071.1_5'UTR|FAM154A_ENST00000380530.1_3'UTR NM_153707.2 NP_714918.2 Q8IYX7 F154A_HUMAN family with sequence similarity 154, member A 176 breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1) 26 GBM - Glioblastoma multiforme(50;6.53e-16) ATGGGGTAATCGTCCTGGTGT 0.478000 25 27 0 0 1 0 0 FAM66D 100132923 broad.mit.edu 37 8 11986719 11986719 + RNA SNP G G C TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr8:11986719G>C ENST00000434078.2 + 0 608 NR_027425.1 TGGATTTCAGGAAAAGCTGCA 0.522000 4 44 0 0 1 0 0 CPLX2 10814 broad.mit.edu 37 5 175306960 175306960 + Missense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr5:175306960G>A ENST00000359546.4 + 5 960 c.317G>A c.(316-318)gGg>gAg p.G106E CPLX2_ENST00000515094.1_Missense_Mutation_p.G106E|CPLX2_ENST00000393745.3_Missense_Mutation_p.G106E NM_001008220.1|NM_006650.3 NP_001008221.1|NP_006641.1 Q6PUV4 CPLX2_HUMAN complexin 2 106 mast cell degranulation|positive regulation of synaptic plasticity|vesicle docking involved in exocytosis cytosol endometrium(3)|kidney(2)|lung(3)|ovary(2) 10 all_cancers(89;0.004)|Renal(175;0.000269)|Lung NSC(126;0.00441)|all_lung(126;0.00747) Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) GCGGGCTGCGGGGACGAGGAG 0.627000 8 21 0 0 1 0 0 PKDREJ 10343 broad.mit.edu 37 22 46653007 46653007 + Silent SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr22:46653007G>A ENST00000253255.5 - 1 6212 c.6213C>T c.(6211-6213)ttC>ttT p.F2071F NM_006071.1 NP_006062.1 Q9NTG1 PKDRE_HUMAN polycystin (PKD) family receptor for egg jelly 2071 acrosome reaction|neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2) 73 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.00459) CATCGTAGAAGAATCTGGAAT 0.463000 19 45 0 0 1 0 0 C2orf78 388960 broad.mit.edu 37 2 74043608 74043608 + Missense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr2:74043608G>A ENST00000409561.1 + 3 2379 c.2258G>A c.(2257-2259)cGa>cAa p.R753Q NM_001080474.1 NP_001073943.1 A6NCI8 CB078_HUMAN chromosome 2 open reading frame 78 753 cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1) 34 TACCCTGCTCGACCTGATTCT 0.552000 54 92 0 0 1 0 0 MYOZ3 91977 broad.mit.edu 37 5 150051338 150051338 + Missense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr5:150051338G>A ENST00000297130.4 + 5 491 c.292G>A c.(292-294)Gag>Aag p.E98K CTC-345K18.2_ENST00000511626.2_RNA|MYOZ3_ENST00000517768.1_Missense_Mutation_p.E98K NM_001122853.2|NM_133371.4 NP_001116325.1|NP_588612.2 Q8TDC0 MYOZ3_HUMAN myozenin 3 98 Binding to FLNC. sarcomere protein binding large_intestine(2)|lung(1)|skin(2) 5 Medulloblastoma(196;0.134)|all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CAATGGCCCTGAGGGGCCGAA 0.726000 11 31 0 0 1 0 0 SLC39A5 283375 broad.mit.edu 37 12 56629017 56629017 + Silent SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr12:56629017G>A ENST00000266980.4 + 5 1004 c.711G>A c.(709-711)ctG>ctA p.L237L SLC39A5_ENST00000454355.2_Silent_p.L237L NM_001135195.1 NP_001128667.1 Q6ZMH5 S39A5_HUMAN solute carrier family 39 (zinc transporter), member 5 237 zinc ion transport basolateral plasma membrane|integral to membrane metal ion transmembrane transporter activity NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 TGCGGCTCCTGGGACCTCGTC 0.627000 74 132 0 0 1 0 0 TUBD1 51174 broad.mit.edu 37 17 57955475 57955475 + Missense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr17:57955475C>T ENST00000325752.3 - 5 1035 c.758G>A c.(757-759)cGa>cAa p.R253Q TUBD1_ENST00000340993.6_Missense_Mutation_p.R253Q|TUBD1_ENST00000394239.3_Missense_Mutation_p.R253Q|TUBD1_ENST00000592426.1_Missense_Mutation_p.R253Q|TUBD1_ENST00000539018.1_Missense_Mutation_p.R37Q|TUBD1_ENST00000376094.4_Missense_Mutation_p.R253Q|TUBD1_ENST00000346141.6_Intron NM_016261.3 NP_057345.2 Q9UJT1 TBD_HUMAN tubulin, delta 1 253 cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis centriole|microtubule|nucleus GTP binding|GTPase activity|structural molecule activity NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2) 21 all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;9.34e-13)|all cancers(12;1.91e-11) TAGTGGATTTCGTCTGTAGTG 0.408000 11 46 0 0 1 0 0 INMT-FAM188B 100526825 broad.mit.edu 37 7 30793497 30793497 + Missense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr7:30793497C>T ENST00000458257.1 + 2 316 c.302C>T c.(301-303)cCg>cTg p.P101L INMT_ENST00000013222.5_Missense_Mutation_p.P102L|INMT_ENST00000409539.1_Missense_Mutation_p.P101L|INMT_ENST00000484180.1_3'UTR AAGAAGGAGCCGGGGGCCTAT 0.572000 52 138 0 0 1 0 0 HUNK 30811 broad.mit.edu 37 21 33371051 33371051 + Missense_Mutation SNP C C T rs141493785 by1000genomes TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr21:33371051C>T ENST00000270112.2 + 11 2059 c.1699C>T c.(1699-1701)Cgc>Tgc p.R567C NM_014586.1 NP_055401.1 P57058 HUNK_HUMAN hormonally up-regulated Neu-associated kinase 567 multicellular organismal development|signal transduction ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1) 30 GTCTGTGGATCGCGACGACCA 0.602000 12 42 0 0 1 0 0 MBNL2 10150 broad.mit.edu 37 13 98009818 98009818 + Missense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr13:98009818C>T ENST00000345429.6 + 6 1668 c.887C>T c.(886-888)cCc>cTc p.P296L MBNL2_ENST00000376673.3_Missense_Mutation_p.P296L|MBNL2_ENST00000343600.4_Missense_Mutation_p.P296L|MBNL2_ENST00000445661.2_Missense_Mutation_p.P141L|MBNL2_ENST00000397601.1_Missense_Mutation_p.P296L NM_144778.3 NP_659002.1 Q5VZF2 MBNL2_HUMAN muscleblind-like splicing regulator 2 296 mRNA processing|regulation of RNA splicing|RNA splicing cytoplasm|nucleus RNA binding|zinc ion binding endometrium(4)|large_intestine(4)|lung(7)|prostate(1)|skin(1) 17 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.218) GTCTTTAACCCCAGCGTCTTG 0.522000 35 80 0 0 1 0 0 NEFH 4744 broad.mit.edu 37 22 29885256 29885256 + Missense_Mutation SNP G G A rs56916487 TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr22:29885256G>A ENST00000310624.6 + 4 1660 c.1627G>A c.(1627-1629)Gaa>Aaa p.E543K NM_021076.3 NP_066554.2 P12036 NFH_HUMAN neurofilament, heavy polypeptide 543 30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail. cell death|nervous system development neurofilament cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3) 30 ATCCCCAGCCGAAGTCAAGTC 0.557000 25 62 0 0 1 0 0 NLGN1 22871 broad.mit.edu 37 3 173997067 173997067 + Missense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr3:173997067C>T ENST00000457714.1 + 6 1705 c.1276C>T c.(1276-1278)Cct>Tct p.P426S NLGN1_ENST00000361589.4_Missense_Mutation_p.P426S|NLGN1_ENST00000401917.3_Missense_Mutation_p.P466S|NLGN1_ENST00000466350.1_3'UTR|NLGN1_ENST00000545397.1_Missense_Mutation_p.P426S NM_014932.2 NP_055747.1 Q8N2Q7 NLGN1_HUMAN neuroligin 1 443 calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane cell adhesion molecule binding|neurexin binding|receptor activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 Ovarian(172;0.0025) LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13) ATATGGATATCCTGAAGGCAA 0.338000 21 50 0 0 1 0 0 ETV6 2120 broad.mit.edu 37 12 12022507 12022507 + Silent SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr12:12022507C>T ENST00000396373.4 + 5 887 c.613C>T c.(613-615)Ctg>Ttg p.L205L NM_001987.4 NP_001978.1 P41212 ETV6_HUMAN ets variant 6 205 cytoplasm|nucleolus protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238) breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36) CCGGTCCCCCCTGGACAACAT 0.632000 T """NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5""" """congenital fibrosarcoma, multiple leukemia and lymphoma, secretory breast, MDS, ALL""" 87 188 0 0 1 0 0 RAB11FIP1 80223 broad.mit.edu 37 8 37730652 37730652 + Silent SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr8:37730652G>A ENST00000330843.4 - 4 1680 c.1668C>T c.(1666-1668)tcC>tcT p.S556S RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR NM_001002814.2 NP_001002814.2 Q6WKZ4 RFIP1_HUMAN RAB11 family interacting protein 1 (class I) 556 Ser-rich. protein transport centrosome|phagocytic vesicle membrane|recycling endosome protein binding NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 49 Lung NSC(58;0.118)|all_lung(54;0.195) LUSC - Lung squamous cell carcinoma(8;3.62e-11) AGTCAGTAGGGGAAGGAAGCC 0.537000 29 51 0 0 1 0 0 FGD1 2245 broad.mit.edu 37 X 54481899 54481899 + Missense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chrX:54481899G>A ENST00000375135.3 - 12 2730 c.1997C>T c.(1996-1998)tCc>tTc p.S666F NM_004463.2 NP_004454.2 P98174 FGD1_HUMAN FYVE, RhoGEF and PH domain containing 1 666 PH 1. actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 39 GAGCTCGAGGGAGCGCTGCTT 0.552000 4 30 0 0 1 0 0 INPP4A 3631 broad.mit.edu 37 2 99163138 99163138 + Missense_Mutation SNP T T C TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr2:99163138T>C ENST00000074304.5 + 13 1537 c.1144T>C c.(1144-1146)Ttt>Ctt p.F382L INPP4A_ENST00000409540.3_Missense_Mutation_p.F382L|INPP4A_ENST00000545415.1_Missense_Mutation_p.F382L|INPP4A_ENST00000409463.1_Intron|INPP4A_ENST00000409851.3_Missense_Mutation_p.F382L|INPP4A_ENST00000523221.1_Missense_Mutation_p.F382L|INPP4A_ENST00000409016.3_Missense_Mutation_p.F382L NM_001134224.1 NP_001127696.1 Q96PE3 INP4A_HUMAN inositol polyphosphate-4-phosphatase, type I, 107kDa 382 signal transduction phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4) 43 GCTGCACAAATTTGAAGAGAC 0.433000 12 23 0 0 1 0 0 AFAP1 60312 broad.mit.edu 37 4 7811423 7811423 + Silent SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr4:7811423G>A ENST00000420658.1 - 9 1244 c.972C>T c.(970-972)atC>atT p.I324I AFAP1_ENST00000358461.2_Silent_p.I324I|AFAP1_ENST00000382543.3_Silent_p.I324I|AFAP1_ENST00000360265.4_Silent_p.I324I NM_001134647.1 NP_001128119.1 Q8N556 AFAP1_HUMAN actin filament associated protein 1 324 actin cytoskeleton|cytoplasm|focal adhesion actin binding NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2) 32 TGATCTTGGTGATTTTTTTCC 0.483000 19 38 0 0 1 0 0 ANGPTL1 9068 broad.mit.edu 37 1 178820449 178820449 + Missense_Mutation SNP T T A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr1:178820449T>A ENST00000234816.2 - 6 1738 c.1291A>T c.(1291-1293)Aac>Tac p.N431Y ANGPTL1_ENST00000367629.1_Missense_Mutation_p.N431Y|RALGPS2_ENST00000367634.2_Intron|RALGPS2_ENST00000367635.3_Intron|RALGPS2_ENST00000324778.4_Intron NM_004673.3 NP_004664.1 O95841 ANGL1_HUMAN angiopoietin-like 1 431 Fibrinogen C-terminal. extracellular space receptor binding breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1) 14 TGGGCGCAGTTTCCTTTGAGG 0.388000 19 45 0 0 1 0 0 ZNF248 57209 broad.mit.edu 37 10 38121086 38121086 + Missense_Mutation SNP C C A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr10:38121086C>A ENST00000395867.3 - 6 1747 c.1197G>T c.(1195-1197)caG>caT p.Q399H ZNF248_ENST00000494133.1_Intron|ZNF248_ENST00000374648.3_Intron|ZNF248_ENST00000357328.4_Missense_Mutation_p.Q399H NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2 NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1 Q8NDW4 ZN248_HUMAN zinc finger protein 248 399 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1) 20 TGTGTGTTCTCTGATGTTGAG 0.468000 31 49 7.72975e-29 7.88686e-29 1 1 0 BIRC6 57448 broad.mit.edu 37 2 32605261 32605261 + Missense_Mutation SNP T T A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr2:32605261T>A ENST00000421745.2 + 3 682 c.548T>A c.(547-549)aTt>aAt p.I183N NM_016252.3 NP_057336.3 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 183 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) AAGGTAGATATTTCTAGTACA 0.313000 5 3 0 0 1 0 0 HSPA14 51182 broad.mit.edu 37 10 14896213 14896213 + Missense_Mutation SNP T T G TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr10:14896213T>G ENST00000378372.3 + 9 1063 c.824T>G c.(823-825)tTg>tGg p.L275W NM_016299.2 NP_057383.2 Q0VDF9 HSP7E_HUMAN heat shock 70kDa protein 14 275 'de novo' cotranslational protein folding cytosol ATP binding|protein binding breast(4)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(2) 17 TTGTCAACCTTGGGAAGTGCC 0.348000 30 67 0 0 1 0 0 ELN 2006 broad.mit.edu 37 7 73460543 73460543 + Silent SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr7:73460543C>T ENST00000252034.7 + 11 966 c.567C>T c.(565-567)atC>atT p.I189I ELN_ENST00000445912.1_Silent_p.I189I|ELN_ENST00000380562.4_Silent_p.I189I|ELN_ENST00000380575.4_Silent_p.I179I|ELN_ENST00000380584.4_Silent_p.I189I|ELN_ENST00000380553.4_Silent_p.I86I|ELN_ENST00000414324.1_Silent_p.I184I|ELN_ENST00000320399.6_Silent_p.I189I|ELN_ENST00000380576.5_Silent_p.I189I|ELN_ENST00000358929.4_Silent_p.I189I|ELN_ENST00000429192.1_Silent_p.I194I|ELN_ENST00000320492.7_Intron|ELN_ENST00000458204.1_Silent_p.I179I|ELN_ENST00000357036.5_Silent_p.I194I NM_000501.2 NP_000492.2 P15502 ELN_HUMAN elastin 189 blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange proteinaceous extracellular matrix extracellular matrix constituent conferring elasticity|protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1) 32 Lung NSC(55;0.159) Rofecoxib(DB00533) TTGCTGGAATCCCAGGTGAGG 0.602000 T PAX5 B-ALL """Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome""" 29 74 0 0 1 0 0 OR10G2 26534 broad.mit.edu 37 14 22102920 22102920 + Silent SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr14:22102920G>A ENST00000542433.1 - 1 176 c.79C>T c.(79-81)Cta>Tta p.L27L NM_001005466.1 NP_001005466.1 Q8NGC3 O10G2_HUMAN olfactory receptor, family 10, subfamily G, member 2 27 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2) 22 all_cancers(95;0.00113) Acute lymphoblastic leukemia(2;0.0279) GBM - Glioblastoma multiforme(265;0.0142) AGGCTTCTTAGATTTGGGGGG 0.488000 44 71 0 0 1 0 0 SATB1 6304 broad.mit.edu 37 3 18436161 18436161 + Silent SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr3:18436161C>T ENST00000338745.6 - 7 2733 c.999G>A c.(997-999)gtG>gtA p.V333V SATB1_ENST00000454909.2_Silent_p.V333V|SATB1_ENST00000417717.2_Silent_p.V333V|TBC1D5_ENST00000414318.2_Intron NM_002971.4 NP_002962.1 Q01826 SATB1_HUMAN SATB homeobox 1 333 cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter nuclear matrix|PML body double-stranded DNA binding|sequence-specific DNA binding NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2) 32 AAAGTCTATTCACTGCATACT 0.488000 42 48 0 0 1 0 0 ABCC9 10060 broad.mit.edu 37 12 22005154 22005154 + Silent SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr12:22005154G>A ENST00000261200.4 - 22 2645 c.2646C>T c.(2644-2646)atC>atT p.I882I ABCC9_ENST00000261201.4_Silent_p.I882I|ABCC9_ENST00000345162.2_Silent_p.I846I|RP11-729I10.2_ENST00000539874.1_RNA NM_020297.2 NP_064693.2 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 9 882 ABC transporter 1. defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5) 118 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) TCATGGCTATGATCTAAGGAA 0.358000 12 17 0 0 1 0 0 STK11 6794 broad.mit.edu 37 19 1220494 1220494 + Missense_Mutation SNP G G T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr19:1220494G>T ENST00000326873.7 + 4 1760 c.587G>T c.(586-588)gGc>gTc p.G196V NM_000455.4 NP_000446.1 Q15831 STK11_HUMAN serine/threonine kinase 11 196 Protein kinase. anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation cytosol|nucleus ATP binding|magnesium ion binding|protein serine/threonine kinase activity p.0?(20)|p.Y156fs*87(4)|p.?(3)|p.G196V(1) biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 328 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18) TCCGACCTGGGCGTGGCCGAG 0.687000 14 """D, Mis, N, F, S""" """NSCLC, pancreatic""" """jejunal harmartoma, ovarian, testicular, pancreatic""" Peutz-Jeghers syndrome TSP Lung(3;<1E-08) 4 7 0.014758 0.0147874 1 1 0 C7orf57 136288 broad.mit.edu 37 7 48089491 48089491 + Silent SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr7:48089491C>T ENST00000348904.3 + 6 734 c.522C>T c.(520-522)gcC>gcT p.A174A C7orf57_ENST00000435376.1_Silent_p.A52A|C7orf57_ENST00000420324.1_Silent_p.A219A|C7orf57_ENST00000539619.1_Silent_p.A174A|C7orf57_ENST00000430738.1_Silent_p.A219A NM_001100159.2 NP_001093629.1 Q8NEG2 CG057_HUMAN chromosome 7 open reading frame 57 174 breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1) 9 GGCTACCGGCCATTGACTCAA 0.483000 11 20 0 0 1 0 0 COL19A1 1310 broad.mit.edu 37 6 70778357 70778357 + Missense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr6:70778357G>A ENST00000322773.4 + 15 1315 c.1213G>A c.(1213-1215)Gag>Aag p.E405K COL19A1_ENST00000393344.1_Missense_Mutation_p.E27K NM_001858.4 NP_001849.2 Q14993 COJA1_HUMAN collagen, type XIX, alpha 1 405 Triple-helical region 2 (COL2). cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 109 ACCTGGAAAAGAGGGTCAGAG 0.443000 15 40 0 0 1 0 0 C8A 731 broad.mit.edu 37 1 57372379 57372379 + Missense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr1:57372379C>T ENST00000361249.3 + 8 1232 c.1136C>T c.(1135-1137)tCc>tTc p.S379F NM_000562.2 NP_000553.1 P07357 CO8A_HUMAN complement component 8, alpha polypeptide 379 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular space|membrane attack complex p.S379F(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 43 TTTGGAGGCTCCTTGGGCATT 0.393000 44 45 0 0 1 0 0 FLVCR2 55640 broad.mit.edu 37 14 76045384 76045384 + Silent SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr14:76045384G>A ENST00000238667.4 + 1 425 c.69G>A c.(67-69)gcG>gcA p.A23A AC007182.6_ENST00000455232.1_RNA NM_017791.2 NP_060261.2 Q9UPI3 FLVC2_HUMAN feline leukemia virus subgroup C cellular receptor family, member 2 23 transmembrane transport integral to membrane|plasma membrane heme binding|heme transporter activity endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 15 BRCA - Breast invasive adenocarcinoma(234;0.029) CACTCCAAGCGGACCCCAGCG 0.627000 33 92 0 0 1 0 0 KIR3DX1 90011 broad.mit.edu 37 19 55045209 55045209 + Missense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr19:55045209C>T ENST00000335056.3 + 3 367 c.329C>T c.(328-330)tCc>tTc p.S110F endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|skin(1) 24 GBM - Glioblastoma multiforme(193;0.099) GAGAGCAACTCCCTGAAGATC 0.552000 15 15 0 0 1 0 0 THSD7B 80731 broad.mit.edu 37 2 138421116 138421116 + Missense_Mutation SNP A A T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr2:138421116A>T ENST00000409968.1 + 26 4800 c.4622A>T c.(4621-4623)aAa>aTa p.K1541I THSD7B_ENST00000413152.2_Missense_Mutation_p.K1513I|THSD7B_ENST00000272643.3_Missense_Mutation_p.K1544I thrombospondin, type I, domain containing 7B NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 134 BRCA - Breast invasive adenocarcinoma(221;0.19) GATATTTTTAAAGGATGGTCT 0.363000 9 8 0 0 1 0 0 KL 9365 broad.mit.edu 37 13 33635388 33635388 + Silent SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr13:33635388G>A ENST00000380099.3 + 4 2180 c.2172G>A c.(2170-2172)ggG>ggA p.G724G KL_ENST00000426690.2_3'UTR|KL_ENST00000487852.1_3'UTR NM_004795.3 NP_004786.2 Q9UEF7 KLOT_HUMAN klotho 724 Glycosyl hydrolase-1 2. aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5) 41 all_epithelial(80;0.133) Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05) CTCAGAATGGGAAAATATCCA 0.463000 19 36 0 0 1 0 0 ZCCHC13 389874 broad.mit.edu 37 X 73524129 73524129 + Missense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chrX:73524129G>A ENST00000339534.2 + 1 105 c.28G>A c.(28-30)Gga>Aga p.G10R NM_203303.2 NP_976048.1 Q8WW36 ZCH13_HUMAN zinc finger, CCHC domain containing 13 10 nucleic acid binding|zinc ion binding breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1) 8 CTTCGCGTGTGGACACTCTGG 0.637000 6 11 0 0 1 0 0 TBC1D4 9882 broad.mit.edu 37 13 75861016 75861016 + Missense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr13:75861016G>A ENST00000377636.3 - 21 4155 c.3809C>T c.(3808-3810)cCc>cTc p.P1270L TBC1D4_ENST00000425511.1_Missense_Mutation_p.P434L|TBC1D4_ENST00000431480.2_Missense_Mutation_p.P1262L|TBC1D4_ENST00000377625.2_Missense_Mutation_p.P1207L NM_014832.2 NP_055647.2 O60343 TBCD4_HUMAN TBC1 domain family, member 4 1270 cytoplasm Rab GTPase activator activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Prostate(6;0.014)|Breast(118;0.0982) GBM - Glioblastoma multiforme(99;0.0116) AGCATCCGCGGGCAGCAGCTT 0.453000 19 44 0 0 1 0 0 PCDHGA2 56113 broad.mit.edu 37 5 140719148 140719148 + Missense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr5:140719148G>A ENST00000394576.2 + 1 610 c.610G>A c.(610-612)Gaa>Aaa p.E204K PCDHGA1_ENST00000517417.1_Intron NM_018915.2 NP_061738.1 breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 77 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGACCGCGAGGAAGAGGCTGT 0.597000 36 49 0 0 1 0 0 PCDHGA4 56111 broad.mit.edu 37 5 140736132 140736132 + Silent SNP T T A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr5:140736132T>A ENST00000571252.1 + 1 1365 c.1365T>A c.(1363-1365)gcT>gcA p.A455A PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron NM_018917.2 NP_061740.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCCCTCATGCTTCCTACTCTG 0.478000 29 95 0 0 1 0 0 ZBTB41 360023 broad.mit.edu 37 1 197168858 197168858 + Missense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr1:197168858G>A ENST00000367405.4 - 1 814 c.746C>T c.(745-747)tCc>tTc p.S249F ZBTB41_ENST00000467322.1_5'UTR NM_194314.2 NP_919290.2 Q5SVQ8 ZBT41_HUMAN zinc finger and BTB domain containing 41 249 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2) 40 TCTTCTTGCGGAGAAACTTCT 0.378000 15 19 0 0 1 0 0 MARCO 8685 broad.mit.edu 37 2 119750046 119750046 + Missense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr2:119750046G>A ENST00000541757.1 + 16 1392 c.1012G>A c.(1012-1014)Gaa>Aaa p.E338K MARCO_ENST00000327097.4_Missense_Mutation_p.E416K Q9UEW3 MARCO_HUMAN macrophage receptor with collagenous structure 416 Collagen-like. cell surface receptor linked signaling pathway|innate immune response collagen|integral to plasma membrane pattern recognition receptor activity|scavenger receptor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 70 AGAAAAAGGTGAAAGAGGTAA 0.433000 11 25 0 0 1 0 0 LMOD2 442721 broad.mit.edu 37 7 123296057 123296057 + Missense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr7:123296057G>A ENST00000458573.2 + 1 197 c.40G>A c.(40-42)Gaa>Aaa p.E14K LMOD2_ENST00000456238.2_Missense_Mutation_p.E14K NM_207163.1 NP_997046.1 Q6P5Q4 LMOD2_HUMAN leiomodin 2 (cardiac) 14 Glu-rich.|Tropomyosin-binding (By similarity). cytoskeleton actin binding|tropomyosin binding CAGTAAATACGAATCCATCGA 0.537000 6 6 0 0 1 0 0 ZNF716 441234 broad.mit.edu 37 7 57529513 57529513 + Missense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr7:57529513C>T ENST00000420713.1 + 4 1458 c.1346C>T c.(1345-1347)tCa>tTa p.S449L NM_001159279.1 NP_001152751.1 zinc finger protein 716 breast(1)|kidney(1)|lung(20)|ovary(2) 24 ACCTTCTCCTCAACTCTAAAT 0.368000 8 12 0 0 1 0 0 MEPE 56955 broad.mit.edu 37 4 88766771 88766771 + Missense_Mutation SNP G G A rs150973660 by1000genomes TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr4:88766771G>A ENST00000497649.2 + 6 1057 c.679G>A c.(679-681)Gat>Aat p.D227N MEPE_ENST00000395102.4_Missense_Mutation_p.D282N|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000560249.1_Missense_Mutation_p.D138N|MEPE_ENST00000424957.3_Missense_Mutation_p.D251N|MEPE_ENST00000540395.1_Missense_Mutation_p.D138N|MEPE_ENST00000361056.3_Missense_Mutation_p.D251N Q9NQ76 MEPE_HUMAN matrix extracellular phosphoglycoprotein 251 skeletal system development proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 36 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000432) AGGGGACAATGATATATCTCC 0.423000 20 63 0 0 1 0 0 FLVCR2 55640 broad.mit.edu 37 14 76045385 76045385 + Missense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr14:76045385G>A ENST00000238667.4 + 1 426 c.70G>A c.(70-72)Gac>Aac p.D24N AC007182.6_ENST00000455232.1_RNA NM_017791.2 NP_060261.2 Q9UPI3 FLVC2_HUMAN feline leukemia virus subgroup C cellular receptor family, member 2 24 transmembrane transport integral to membrane|plasma membrane heme binding|heme transporter activity endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 15 BRCA - Breast invasive adenocarcinoma(234;0.029) ACTCCAAGCGGACCCCAGCGT 0.632000 34 93 0 0 1 0 0 NAV3 89795 broad.mit.edu 37 12 78542698 78542698 + Splice_Site SNP A A T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr12:78542698A>T ENST00000397909.2 + 22 4957 c.4785_splice c.e22+1 p.N1595_splice NAV3_ENST00000536525.2_Splice_Site_p.N1595_splice|NAV3_ENST00000266692.7_Splice_Site_p.N1418_splice|NAV3_ENST00000228327.6_Splice_Site_p.N1595_splice Q8IVL0 NAV3_HUMAN neuron navigator 3 1595 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 CTTTCAGCAAATGTAAGTCAC 0.308000 HNSCC(70;0.22) 10 23 0 0 1 0 0 NME7 29922 broad.mit.edu 37 1 169267804 169267804 + Missense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr1:169267804G>A ENST00000367811.3 - 6 894 c.638C>T c.(637-639)tCt>tTt p.S213F NME7_ENST00000472647.1_Missense_Mutation_p.S177F|NME7_ENST00000469474.1_5'UTR NM_013330.3 NP_037462.1 Q9Y5B8 NDK7_HUMAN NME/NM23 family member 7 213 CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process centrosome ATP binding|metal ion binding|nucleoside diphosphate kinase activity p.S213Y(1) central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(8)|skin(1) 16 all_hematologic(923;0.208) TCTGGCCGCAGAAGCAAAAGA 0.408000 35 75 0 0 1 0 0 PMS2P3 5387 broad.mit.edu 37 7 75140347 75140347 + RNA SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr7:75140347G>A ENST00000418756.1 - 0 1280 NR_028059.1 lung(1) 1 GTGGGGGTAGGGGGTTTCCTG 0.502000 39 92 0 0 1 0 0 SAP30 8819 broad.mit.edu 37 4 174292590 174292590 + Missense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr4:174292590G>A ENST00000296504.3 + 1 497 c.257G>A c.(256-258)aGc>aAc p.S86N NM_003864.3 NP_003855.1 O75446 SAP30_HUMAN Sin3A-associated protein, 30kDa 86 Interaction with NCOR1 (By similarity). transcription, DNA-dependent histone deacetylase complex DNA binding|metal ion binding|protein binding|transcription corepressor activity large_intestine(1)|lung(2)|ovary(1) 4 Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107) all cancers(43;1.15e-17)|Epithelial(43;4.33e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.62e-09)|STAD - Stomach adenocarcinoma(60;0.00278)|GBM - Glioblastoma multiforme(59;0.00659)|LUSC - Lung squamous cell carcinoma(193;0.0919) GCCAGCTTCAGCAAGAGGATC 0.697000 29 47 0 0 1 0 0 FAM47A 158724 broad.mit.edu 37 X 34149821 34149821 + Missense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chrX:34149821G>A ENST00000346193.3 - 1 626 c.575C>T c.(574-576)cCc>cTc p.P192L NM_203408.3 NP_981953.2 Q5JRC9 FA47A_HUMAN family with sequence similarity 47, member A 192 Pro-rich. NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2) 97 CGGAGTCTCGGGAGGCTTCAG 0.612000 31 45 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 12 52 0 0 1 0 0 ZNF280A 129025 broad.mit.edu 37 22 22869140 22869140 + Missense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr22:22869140G>A ENST00000302097.3 - 2 1067 c.815C>T c.(814-816)cCc>cTc p.P272L NM_080740.3 NP_542778.1 P59817 Z280A_HUMAN zinc finger protein 280A 272 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 18 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22) READ - Rectum adenocarcinoma(21;0.145) TAACACGATGGGATTTTCTTT 0.443000 36 71 0 0 1 0 0 RHAG 6005 broad.mit.edu 37 6 49578828 49578828 + Missense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr6:49578828C>T ENST00000371175.4 - 7 1002 c.976G>A c.(976-978)Gat>Aat p.D326N RHAG_ENST00000229810.7_Intron NM_000324.2 NP_000315.2 Q02094 RHAG_HUMAN Rh-associated glycoprotein 326 carbon dioxide transport|cellular ion homeostasis integral to plasma membrane ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 39 Lung NSC(77;0.0255) CCACATGTATCATGGATCCTC 0.423000 21 51 0 0 1 0 0 SEZ6L 23544 broad.mit.edu 37 22 26688982 26688982 + Silent SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr22:26688982G>A ENST00000529632.2 + 2 901 c.705G>A c.(703-705)gaG>gaA p.E235E SEZ6L_ENST00000403121.1_Silent_p.E8E|SEZ6L_ENST00000360929.3_Silent_p.E235E|SEZ6L_ENST00000343706.4_Silent_p.E235E|SEZ6L_ENST00000404234.3_Silent_p.E235E|SEZ6L_ENST00000248933.6_Silent_p.E235E|SEZ6L_ENST00000402979.1_Silent_p.E8E NM_001184774.1|NM_001184775.1|NM_001184777.1 NP_001171703.1|NP_001171704.1|NP_001171706.1 Q9BYH1 SE6L1_HUMAN seizure related 6 homolog (mouse)-like 235 endoplasmic reticulum membrane|integral to membrane breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 80 CCCCCCAGGAGGACACCAGCC 0.632000 25 51 0 0 1 0 0 PIWIL1 9271 broad.mit.edu 37 12 130855736 130855736 + Silent SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr12:130855736C>T ENST00000245255.3 + 20 2609 c.2337C>T c.(2335-2337)atC>atT p.I779I PIWIL1_ENST00000541480.1_3'UTR NM_001190971.1|NM_004764.4 NP_001177900.1|NP_004755.2 Q96J94 PIWL1_HUMAN piwi-like RNA-mediated gene silencing 1 779 Piwi. gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development chromatoid body|P granule mRNA binding|piRNA binding|protein binding breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1) 57 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05) ACTTTTTTATCGTGAGCCAGG 0.438000 36 90 0 0 1 0 0 PCDHGB1 56104 broad.mit.edu 37 5 140730325 140730325 + Missense_Mutation SNP A A C TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr5:140730325A>C ENST00000523390.1 + 1 498 c.498A>C c.(496-498)ttA>ttC p.L166F PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron NM_018922.2|NM_032095.1 NP_061745.1|NP_115266.1 central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1) 16 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CACTGAAGTTATACACCATCA 0.428000 82 254 0 0 1 0 0 PRB1 5542 broad.mit.edu 37 12 11506765 11506765 + Missense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr12:11506765C>T ENST00000500254.2 - 3 309 c.272G>A c.(271-273)cGa>cAa p.R91Q PRB1_ENST00000546254.1_Missense_Mutation_p.R91Q|PRB1_ENST00000545626.1_Missense_Mutation_p.R91Q NM_005039.3|NM_199353.2 NP_005030.2|NP_955385.1 P04280 PRP1_HUMAN proline-rich protein BstNI subfamily 1 274 15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR]. extracellular region NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 20 OV - Ovarian serous cystadenocarcinoma(49;0.185) TGGAGGAGATCGGGGACTTCG 0.612000 142 748 0 0 1 0 0 PRKDC 5591 broad.mit.edu 37 8 48805808 48805808 + Missense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr8:48805808G>A ENST00000314191.2 - 32 3792 c.3736C>T c.(3736-3738)Cca>Tca p.P1246S PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.P1246S NM_006904.6 NP_008835.5 P78527 PRKDC_HUMAN protein kinase, DNA-activated, catalytic polypeptide 1247 cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7) 147 all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391) AGGCTGAATGGCCCCCGAAGT 0.607000 Non-homologous end-joining 3 14 0 0 1 0 0 GRIA1 2890 broad.mit.edu 37 5 153175055 153175055 + Missense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr5:153175055G>A ENST00000340592.5 + 14 2363 c.2290G>A c.(2290-2292)Gtt>Att p.V764I GRIA1_ENST00000448073.4_Missense_Mutation_p.V774I|GRIA1_ENST00000518783.1_Intron|GRIA1_ENST00000521843.2_Intron|GRIA1_ENST00000285900.5_Intron|GRIA1_ENST00000518142.1_Intron NM_001114183.1|NM_001258020.1 NP_001107655.1|NP_001244949.1 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 764 synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2) 81 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) AAACCTAGCGGTTTTGAAACT 0.418000 14 31 0 0 1 0 0 CYP26A1 1592 broad.mit.edu 37 10 94837047 94837047 + Missense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr10:94837047C>T ENST00000371531.1 + 7 1651 c.1273C>T c.(1273-1275)Cat>Tat p.H425Y CYP26A1_ENST00000394139.1_Missense_Mutation_p.H425Y|CYP26A1_ENST00000224356.4_Missense_Mutation_p.H494Y NM_057157.2 NP_476498.1 O43174 CP26A_HUMAN cytochrome P450, family 26, subfamily A, polypeptide 1 494 negative regulation of retinoic acid receptor signaling pathway|retinoic acid catabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|oxygen binding|retinoic acid 4-hydroxylase activity|retinoic acid binding breast(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 16 Colorectal(252;0.122) CACCCATTTCCATGGGGAAAT 0.413000 18 21 0 0 1 0 0 VPS9D1 9605 broad.mit.edu 37 16 89777111 89777111 + Nonsense_Mutation SNP C C A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr16:89777111C>A ENST00000561976.1 - 9 1308 c.931G>T c.(931-933)Gag>Tag p.E311* VPS9D1_ENST00000389386.3_Nonsense_Mutation_p.E381* VPS9 domain containing 1 TCCAGGTCCTCGAACGAGCTG 0.701000 3 11 0.115264 0.115264 1 1 0 KANK2 25959 broad.mit.edu 37 19 11280856 11280856 + Silent SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr19:11280856G>A ENST00000432929.2 - 11 2664 c.2304C>T c.(2302-2304)gcC>gcT p.A768A KANK2_ENST00000587317.1_5'UTR|KANK2_ENST00000589359.1_Silent_p.A768A|KANK2_ENST00000589894.1_Silent_p.A760A|KANK2_ENST00000586659.1_Silent_p.A760A|KANK2_ENST00000355150.5_Silent_p.A760A NM_001136191.2 NP_001129663.1 Q63ZY3 KANK2_HUMAN KN motif and ankyrin repeat domains 2 760 endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 CTGCCTCACAGGCCAGCAGGG 0.642000 29 45 0 0 1 0 0 SH2B1 25970 broad.mit.edu 37 16 28883938 28883938 + Silent SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr16:28883938C>T ENST00000337120.5 + 7 5100 c.1809C>T c.(1807-1809)caC>caT p.H603H SH2B1_ENST00000545570.1_Silent_p.H293H|SH2B1_ENST00000359285.5_Silent_p.H603H|SH2B1_ENST00000322610.8_Silent_p.H603H|SH2B1_ENST00000538342.1_Silent_p.H267H|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000395532.4_Silent_p.H603H NM_001145812.1|NM_015503.2 NP_001139284.1|NP_056318.2 Q9NRF2 SH2B1_HUMAN SH2B adaptor protein 1 603 SH2. blood coagulation|intracellular signal transduction cytosol|membrane|nucleus signal transducer activity endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 TGCTCGAGCACTTCCGGGTGC 0.607000 27 73 0 0 1 0 0 LUM 4060 broad.mit.edu 37 12 91502142 91502142 + Silent SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr12:91502142G>A ENST00000266718.4 - 2 1069 c.615C>T c.(613-615)gtC>gtT p.V205V LUM_ENST00000548071.1_Intron NM_002345.3 NP_002336.1 P51884 LUM_HUMAN lumican 205 collagen fibril organization|visual perception extracellular space|fibrillar collagen collagen binding|extracellular matrix structural constituent central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 24 TTAGAAGAGAGACAGGGAGAC 0.408000 37 103 0 0 1 0 0 PLCB4 5332 broad.mit.edu 37 20 9459602 9459602 + Missense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr20:9459602C>T ENST00000378493.1 + 35 3509 c.3494C>T c.(3493-3495)gCc>gTc p.A1165V PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378501.2_Silent_p.S1177S|PLCB4_ENST00000378473.3_Missense_Mutation_p.A1177V|PLCB4_ENST00000334005.3_Silent_p.S1177S|PLCB4_ENST00000278655.4_Missense_Mutation_p.A1165V|PLCB4_ENST00000414679.2_Missense_Mutation_p.A1177V Q15147 PLCB4_HUMAN phospholipase C, beta 4 1165 intracellular signal transduction|lipid catabolic process cytosol calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1) 87 AAATTGGAAGCCGAGATGGAC 0.448000 11 25 0 0 1 0 0 CABLES1 91768 broad.mit.edu 37 18 20837244 20837244 + Silent SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr18:20837244C>T ENST00000256925.7 + 10 1815 c.1815C>T c.(1813-1815)ttC>ttT p.F605F CABLES1_ENST00000400473.2_Silent_p.F278F|CABLES1_ENST00000420687.2_Silent_p.F340F|RP11-17J14.2_ENST00000585184.1_RNA|TMEM241_ENST00000450466.2_Intron|CABLES1_ENST00000585061.1_Intron NM_001100619.2 NP_001094089.1 Q8TDN4 CABL1_HUMAN Cdk5 and Abl enzyme substrate 1 605 blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division cytosol|nucleus cyclin-dependent protein kinase regulator activity|protein binding breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1) 11 all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127) CCTTTGAATTCCCGGTGTTAG 0.488000 20 47 0 0 1 0 0 MAP2 4133 broad.mit.edu 37 2 210559392 210559392 + Missense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr2:210559392C>T ENST00000360351.4 + 7 3004 c.2498C>T c.(2497-2499)tCa>tTa p.S833L MAP2_ENST00000447185.1_Missense_Mutation_p.S829L|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000392194.1_Intron NM_002374.3 NP_002365.3 P11137 MAP2_HUMAN microtubule-associated protein 2 833 central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization cytoplasm|microtubule|microtubule associated complex beta-dystroglycan binding|calmodulin binding|structural molecule activity breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 124 Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202) UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18) Estramustine(DB01196) AGGAGGAAATCAGTCCCATCA 0.502000 45 76 0 0 1 0 0 MXRA5 25878 broad.mit.edu 37 X 3229096 3229096 + Missense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chrX:3229096G>A ENST00000217939.6 - 7 7302 c.7148C>T c.(7147-7149)cCa>cTa p.P2383L NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 2383 Ig-like C2-type 8. extracellular region NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2) 157 all_lung(23;0.00031)|Lung NSC(23;0.000946) CTTGTTGGTTGGGGACAACCA 0.522000 28 35 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62287510 62287510 + Silent SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr11:62287510G>A ENST00000378024.4 - 5 14653 c.14379C>T c.(14377-14379)ttC>ttT p.F4793F AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 4793 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) CTTCTCCTTTGAAGCCAGGCA 0.517000 98 200 0 0 1 0 0 CRY2 1408 broad.mit.edu 37 11 45891668 45891668 + Missense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr11:45891668C>T ENST00000443527.2 + 8 1344 c.1322C>T c.(1321-1323)tCc>tTc p.S441F CRY2_ENST00000417225.2_Missense_Mutation_p.S359F NM_021117.3 NP_066940.2 Q49AN0 CRY2_HUMAN cryptochrome 2 (photolyase-like) 420 FAD-binding.|Required for inhibition of CLOCK-ARNTL- mediated transcription (By similarity). DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2) 15 ATGTGGCTGTCCTGCAGTGCT 0.567000 30 81 0 0 1 0 0 CCDC93 54520 broad.mit.edu 37 2 118715983 118715983 + Silent SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr2:118715983G>A ENST00000376300.2 - 12 1100 c.963C>T c.(961-963)tcC>tcT p.S321S CCDC93_ENST00000319432.5_Silent_p.S320S|CCDC93_ENST00000460781.1_5'UTR NM_019044.4 NP_061917.3 Q567U6 CCD93_HUMAN coiled-coil domain containing 93 321 breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2) 29 GTTTGTTCAAGGAAATGACTT 0.408000 10 43 0 0 1 0 0 RHBDF1 64285 broad.mit.edu 37 16 111654 111654 + Missense_Mutation SNP C C G TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr16:111654C>G ENST00000262316.6 - 9 1391 c.1249G>C c.(1249-1251)Gtc>Ctc p.V417L RHBDF1_ENST00000454039.2_Missense_Mutation_p.V417L NM_022450.3 NP_071895.3 Q96CC6 RHDF1_HUMAN rhomboid 5 homolog 1 (Drosophila) 417 cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane growth factor binding|serine-type endopeptidase activity breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1) 18 all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159) AGGATGGTGACGAGCGAGTGC 0.682000 22 52 0 0 1 0 0 SLCO1A2 6579 broad.mit.edu 37 12 21427477 21427477 + Silent SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr12:21427477G>A ENST00000307378.6 - 15 2439 c.1719C>T c.(1717-1719)tcC>tcT p.S573S SLCO1A2_ENST00000537524.1_Silent_p.S441S|SLCO1A2_ENST00000458504.1_Silent_p.S441S|SLCO1A2_ENST00000452078.1_Silent_p.S573S NM_134431.3 NP_602307.1 P46721 SO1A2_HUMAN solute carrier organic anion transporter family, member 1A2 573 bile acid metabolic process|sodium-independent organic anion transport integral to membrane|plasma membrane bile acid transmembrane transporter activity|organic anion transmembrane transporter activity breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1) 48 GTAAACATGTGGAATCCATTA 0.353000 24 35 0 0 1 0 0 F9 2158 broad.mit.edu 37 X 138644105 138644105 + Missense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chrX:138644105G>A ENST00000218099.2 + 8 1268 c.1261G>A c.(1261-1263)Ggg>Agg p.G421R F9_ENST00000394090.2_Missense_Mutation_p.G383R NM_000133.3 NP_000124.1 P00740 FA9_HUMAN coagulation factor IX 421 Peptidase S1. blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane calcium ion binding|serine-type endopeptidase activity p.G421R(2) breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1) 35 Acute lymphoblastic leukemia(192;0.000127) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170) TGAAGTGGAAGGGACCAGTTT 0.438000 37 88 0 0 1 0 0 RPS6KA6 27330 broad.mit.edu 37 X 83402013 83402013 + Missense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chrX:83402013G>A ENST00000262752.2 - 5 401 c.394C>T c.(394-396)Cat>Tat p.H132Y RPS6KA6_ENST00000543399.1_Missense_Mutation_p.H132Y NM_014496.4 NP_055311.1 Q9UK32 KS6A6_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 6 132 Protein kinase 1. axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 46 ATAAATGGATGATTTACTTCC 0.274000 20 39 0 0 1 0 0 MYO15A 51168 broad.mit.edu 37 17 18022438 18022438 + Silent SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr17:18022438G>A ENST00000205890.5 + 2 662 c.324G>A c.(322-324)gtG>gtA p.V108V NM_016239.3 NP_057323.3 Q9UKN7 MYO15_HUMAN myosin XVA 108 Myosin head-like. sensory perception of sound cytoplasm|myosin complex|stereocilium actin binding|ATP binding|calmodulin binding|motor activity breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 99 all_neural(463;0.228) CCTTCATGGTGATCCGCTTCC 0.632000 7 12 0 0 1 0 0 SEC16B 89866 broad.mit.edu 37 1 177899040 177899040 + Missense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr1:177899040G>A ENST00000308284.6 - 26 3225 c.3136C>T c.(3136-3138)Cgg>Tgg p.R1046W SEC16B_ENST00000495165.1_5'UTR|RP4-798P15.3_ENST00000354921.2_5'UTR|RP4-798P15.3_ENST00000528461.1_3'UTR NM_033127.2 NP_149118.2 Q96JE7 SC16B_HUMAN SEC16 homolog B (S. cerevisiae) 1046 protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1) 35 CGATTTGGCCGATTCAGGCTA 0.527000 17 19 0 0 1 0 0 CYLC1 1538 broad.mit.edu 37 X 83128910 83128910 + Missense_Mutation SNP G G T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chrX:83128910G>T ENST00000329312.4 + 4 1231 c.1194G>T c.(1192-1194)aaG>aaT p.K398N NM_021118.1 NP_066941.1 P35663 CYLC1_HUMAN cylicin, basic protein of sperm head cytoskeleton 1 398 cell differentiation|multicellular organismal development|spermatogenesis acrosomal matrix|cytoskeletal calyx structural molecule activity NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 58 ACAAGAAAAAGGATGCAAAGA 0.343000 7 11 8.12818e-05 8.17705e-05 1 1 0 LRRC37A6P 387646 broad.mit.edu 37 10 27538505 27538505 + RNA SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr10:27538505C>T ENST00000574842.1 + 0 255 LRRC37A6P_ENST00000284414.4_RNA CATTCTTCTTCAGGGGTGTAG 0.493000 62 136 0 0 1 0 0 BTN3A3 10384 broad.mit.edu 37 6 26444527 26444527 + Missense_Mutation SNP T T C TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr6:26444527T>C ENST00000244519.2 + 4 671 c.428T>C c.(427-429)gTt>gCt p.V143A BTN3A3_ENST00000361232.3_Missense_Mutation_p.V101A|BTN3A3_ENST00000339789.4_Missense_Mutation_p.V101A NM_006994.4 NP_008925.1 O00478 BT3A3_HUMAN butyrophilin, subfamily 3, member A3 143 integral to membrane cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 30 GAGCTGAAGGTTGCAGGTGAG 0.488000 39 66 0 0 1 0 0 ERICH1 157697 broad.mit.edu 37 8 665915 665915 + Missense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr8:665915G>A ENST00000262109.7 - 2 192 c.115C>T c.(115-117)Cca>Tca p.P39S ERICH1_ENST00000518277.1_5'UTR|ERICH1_ENST00000522706.1_Intron NM_207332.1 NP_997215.1 Q86X53 ERIC1_HUMAN glutamate-rich 1 39 endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1) 20 Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236) Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325) ACTTTCTTTGGTGGATTTTGG 0.498000 59 114 0 0 1 0 0 PTPRG 5793 broad.mit.edu 37 3 62257209 62257209 + Missense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr3:62257209G>A ENST00000474889.1 + 21 3538 c.3161G>A c.(3160-3162)gGc>gAc p.G1054D PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000479018.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG-AS1_ENST00000475371.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA|PTPRG_ENST00000295874.10_Missense_Mutation_p.G1025D NM_002841.3 NP_002832.3 P23470 PTPRG_HUMAN protein tyrosine phosphatase, receptor type, G 1054 Tyrosine-protein phosphatase 1. transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane identical protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 62 BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065) CCAGAAACGGGCCCTGTGTTG 0.527000 18 33 0 0 1 0 0 FAR1 84188 broad.mit.edu 37 11 13736124 13736124 + Silent SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr11:13736124C>T ENST00000354817.3 + 9 1168 c.1024C>T c.(1024-1026)Cta>Tta p.L342L FAR1_ENST00000527202.1_3'UTR NM_032228.5 NP_115604.1 Q8WVX9 FACR1_HUMAN fatty acyl CoA reductase 1 342 ether lipid biosynthetic process integral to membrane|peroxisomal matrix|peroxisomal membrane protein binding breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1) 13 CAATGTAAATCTAACCTCCAA 0.423000 11 19 0 0 1 0 0 GLIS3 169792 broad.mit.edu 37 9 4118105 4118105 + Missense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr9:4118105G>A ENST00000324333.10 - 3 1101 c.908C>T c.(907-909)cCc>cTc p.P303L GLIS3_ENST00000381971.3_Missense_Mutation_p.P458L NM_152629.3 NP_689842.3 Q8NEA6 GLIS3_HUMAN GLIS family zinc finger 3 303 Pro-rich. negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1) 26 Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148) Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148) Agggggtggggggcctggggg 0.736000 10 21 0 0 1 0 0 WFDC2 10406 broad.mit.edu 37 20 44108668 44108668 + Missense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr20:44108668C>T ENST00000342873.3 + 1 590 c.157C>T c.(157-159)Cct>Tct p.P53S WFDC2_ENST00000372676.3_Missense_Mutation_p.P104S|WFDC2_ENST00000339946.3_Missense_Mutation_p.P56S|WFDC2_ENST00000488143.1_3'UTR Q14508 WFDC2_HUMAN WAP four-disulfide core domain 2 104 WAP 1. proteolysis|spermatogenesis extracellular space serine-type endopeptidase inhibitor activity lung(1) 1 Myeloproliferative disorder(115;0.0122) CAGCCAGTGTCCTGGCCAGAT 0.542000 61 118 0 0 1 0 0 NPAT 4863 broad.mit.edu 37 11 108064742 108064742 + Silent SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr11:108064742G>A ENST00000278612.8 - 3 264 c.159C>T c.(157-159)tcC>tcT p.S53S NM_002519.2 NP_002510.2 Q14207 NPAT_HUMAN nuclear protein, ataxia-telangiectasia locus 53 Interaction with MIZF. positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle Cajal body protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5) 46 all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116) TTCCAAATAAGGACTGAAAAG 0.264000 3 12 0 0 1 0 0 CRNN 49860 broad.mit.edu 37 1 152383101 152383101 + Nonsense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr1:152383101G>A ENST00000271835.3 - 3 519 c.457C>T c.(457-459)Cag>Tag p.Q153* RP1-91G5.3_ENST00000411804.1_RNA NM_016190.2 NP_057274.1 Q9UBG3 CRNN_HUMAN cornulin 153 Gln-rich. cell-cell adhesion|response to heat cytoplasm|membrane calcium ion binding breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 35 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242) LUSC - Lung squamous cell carcinoma(543;0.206) CCCTGGGTCTGAACCCCAGGC 0.602000 77 203 0 0 1 0 0 TIMP4 7079 broad.mit.edu 37 3 12195890 12195890 + Silent SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr3:12195890C>T ENST00000287814.4 - 4 924 c.414G>A c.(412-414)gaG>gaA p.E138E SYN2_ENST00000432424.2_RNA NM_003256.3 NP_003247.1 Q99727 TIMP4_HUMAN TIMP metallopeptidase inhibitor 4 138 NTR. metal ion binding|metalloendopeptidase inhibitor activity central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 11 AGGACAGGTCCTCCCAGGGCT 0.498000 12 71 0 0 1 0 0 IGHV4-39 28394 broad.mit.edu 37 14 106877724 106877724 + RNA SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr14:106877724G>A ENST00000390619.2 - 0 319 GACTCTTGAGGGACGGGTTGT 0.552000 55 154 0 0 1 0 0 OSBP2 23762 broad.mit.edu 37 22 31285541 31285541 + Missense_Mutation SNP C C G TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr22:31285541C>G ENST00000332585.6 + 7 1645 c.1541C>G c.(1540-1542)cCc>cGc p.P514R OSBP2_ENST00000446658.2_Missense_Mutation_p.P513R|OSBP2_ENST00000403222.3_Missense_Mutation_p.P348R|OSBP2_ENST00000382310.3_Intron|OSBP2_ENST00000437268.2_Missense_Mutation_p.P256R|OSBP2_ENST00000407373.1_Missense_Mutation_p.P341R|OSBP2_ENST00000401475.1_Missense_Mutation_p.P147R|OSBP2_ENST00000535268.1_Missense_Mutation_p.P58R NM_030758.3 NP_110385.1 Q969R2 OSBP2_HUMAN oxysterol binding protein 2 514 lipid transport membrane lipid binding breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1) 19 GTCCGCATTCCCAACAAGCCC 0.602000 52 157 0 0 1 0 0 EML3 256364 broad.mit.edu 37 11 62375218 62375218 + Missense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr11:62375218G>A ENST00000394773.2 - 11 1589 c.1282C>T c.(1282-1284)Cac>Tac p.H428Y EML3_ENST00000529309.1_Missense_Mutation_p.H428Y|EML3_ENST00000494176.2_Missense_Mutation_p.H400Y|EML3_ENST00000278845.4_Missense_Mutation_p.H429Y|EML3_ENST00000531557.1_Missense_Mutation_p.H211Y|EML3_ENST00000438258.1_Intron NM_153265.2 NP_694997.2 Q32P44 EMAL3_HUMAN echinoderm microtubule associated protein like 3 428 cytoplasm|microtubule protein binding biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 26 AAGTGGACGTGAGATTTCCCA 0.537000 26 58 0 0 1 0 0 EML5 161436 broad.mit.edu 37 14 89168884 89168884 + Missense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr14:89168884C>T ENST00000554922.1 - 14 2392 c.2144G>A c.(2143-2145)cGa>cAa p.R715Q EML5_ENST00000380664.5_Missense_Mutation_p.R715Q|EML5_ENST00000352093.5_Missense_Mutation_p.R715Q NM_183387.2 NP_899243.1 Q05BV3 EMAL5_HUMAN echinoderm microtubule associated protein like 5 715 cytoplasm|microtubule breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 GTTTTGCTGTCGATTATAAAT 0.393000 14 24 0 0 1 0 0 GOLGA5 9950 broad.mit.edu 37 14 93275750 93275750 + Missense_Mutation SNP C C A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr14:93275750C>A ENST00000163416.2 + 4 1134 c.878C>A c.(877-879)gCt>gAt p.A293D GOLGA5_ENST00000355976.2_Missense_Mutation_p.A293D NM_005113.2 NP_005104.2 Q8TBA6 GOGA5_HUMAN golgin A5 293 Golgi organization cis-Golgi network|integral to membrane ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding large_intestine(6)|lung(1)|ovary(2) 9 all_cancers(154;0.0934) COAD - Colon adenocarcinoma(157;0.222) CTGACTGAAGCTGTGGCTGCA 0.488000 T RET papillary thyroid 18 70 1.01871e-10 1.02896e-10 1 1 0 OTOP3 347741 broad.mit.edu 37 17 72943148 72943148 + Missense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr17:72943148G>A ENST00000328801.4 + 6 1198 c.1198G>A c.(1198-1200)Gag>Aag p.E400K NM_178233.1 NP_839947.1 Q7RTS5 OTOP3_HUMAN otopetrin 3 400 integral to membrane|intracellular zinc ion binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_lung(278;0.151)|Lung NSC(278;0.185) ACACGGGCTGGAGGAGAGAGA 0.592000 21 48 0 0 1 0 0 PCDH17 27253 broad.mit.edu 37 13 58298922 58298922 + Missense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr13:58298922C>T ENST00000377918.3 + 4 3000 c.2974C>T c.(2974-2976)Ccc>Tcc p.P992S NM_001040429.2 NP_001035519.1 O14917 PCD17_HUMAN protocadherin 17 992 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) AACTGTGAATCCCACTGGGAA 0.418000 20 56 0 0 1 0 0 FLNC 2318 broad.mit.edu 37 7 128490051 128490051 + Missense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr7:128490051G>A ENST00000325888.8 + 31 5482 c.5221G>A c.(5221-5223)Gag>Aag p.E1741K FLNC_ENST00000346177.6_Intron NM_001458.4 NP_001449.3 Q14315 FLNC_HUMAN filamin C, gamma 1741 Hinge 1. cell junction assembly cytoskeleton|cytosol|plasma membrane|sarcomere actin binding biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2) 128 CCTGCCGCACGAGGAGGAGCC 0.711000 3 10 0 0 1 0 0 GLI2 2736 broad.mit.edu 37 2 121744159 121744159 + Silent SNP G G A rs142856393 byFrequency TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr2:121744159G>A ENST00000452319.1 + 13 2322 c.2262G>A c.(2260-2262)cgG>cgA p.R754R GLI2_ENST00000314490.11_Silent_p.R426R|GLI2_ENST00000361492.4_Silent_p.R754R P10070 GLI2_HUMAN GLI family zinc finger 2 754 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(3;0.0496) Prostate(154;0.0623) CACACACGCGGAACACCAAGC 0.597000 14 39 0 0 1 0 0 COL12A1 1303 broad.mit.edu 37 6 75853081 75853081 + Silent SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr6:75853081G>A ENST00000322507.8 - 26 5023 c.4714C>T c.(4714-4716)Ctg>Ttg p.L1572L COL12A1_ENST00000345356.6_Silent_p.L408L|COL12A1_ENST00000483888.2_Silent_p.L1572L|COL12A1_ENST00000416123.2_Silent_p.L1572L NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 1572 Fibronectin type-III 11. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 169 CTGAGTTTCAGATCCTGAGGT 0.428000 13 30 0 0 1 0 0 GRB10 2887 broad.mit.edu 37 7 50737506 50737506 + Silent SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr7:50737506G>A ENST00000403097.1 - 6 1179 c.399C>T c.(397-399)ccC>ccT p.P133P GRB10_ENST00000357271.5_Silent_p.P139P|GRB10_ENST00000439599.1_Silent_p.P133P|GRB10_ENST00000402497.1_Silent_p.P81P|GRB10_ENST00000335866.3_Silent_p.P81P|GRB10_ENST00000402578.1_Silent_p.P81P|GRB10_ENST00000407526.1_Silent_p.P81P|GRB10_ENST00000398810.2_Silent_p.P81P|GRB10_ENST00000398812.2_Silent_p.P139P|GRB10_ENST00000401949.1_Silent_p.P139P|GRB10_ENST00000406641.1_Silent_p.P81P Q13322 GRB10_HUMAN growth factor receptor-bound protein 10 139 insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway cytosol|plasma membrane insulin receptor binding|SH3/SH2 adaptor activity NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2) 41 Glioma(55;0.08)|all_neural(89;0.245) GAAAAGGATTGGGGATGGCCG 0.602000 Russell-Silver syndrome 8 21 0 0 1 0 0 MYH11 4629 broad.mit.edu 37 16 15818851 15818851 + Splice_Site SNP T T C TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr16:15818851T>C ENST00000338282.6 - 29 3965 c.e29-2 NDE1_ENST00000342673.5_3'UTR|MYH11_ENST00000300036.5_Splice_Site|MYH11_ENST00000576790.1_Splice_Site|MYH11_ENST00000452625.2_Splice_Site|MYH11_ENST00000396324.3_Splice_Site|NDE1_ENST00000571896.1_3'UTR|NDE1_ENST00000396354.1_3'UTR|NDE1_ENST00000396355.1_3'UTR NM_022844.2 NP_074035.1 P35749 MYH11_HUMAN myosin, heavy chain 11, smooth muscle axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1) 123 AACTTCATTCTAAGGGTGCCA 0.527000 T CBFB AML 5 19 0 0 1 0 0 FAM83B 222584 broad.mit.edu 37 6 54806762 54806762 + Missense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr6:54806762G>A ENST00000306858.7 + 5 3109 c.2993G>A c.(2992-2994)gGa>gAa p.G998E NM_001010872.1 NP_001010872.1 Q5T0W9 FA83B_HUMAN family with sequence similarity 83, member B 998 autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) AAGTTTCGAGGATTTATGCAA 0.348000 14 34 0 0 1 0 0 RORB 6096 broad.mit.edu 37 9 77282817 77282817 + Splice_Site SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr9:77282817G>A ENST00000376896.2 + 8 1723 c.1111_splice c.e8+1 p.D371_splice RORB_ENST00000396204.2_Splice_Site_p.D382_splice NM_006914.3 NP_008845.2 Q92753 RORB_HUMAN RAR-related orphan receptor B 382 Ligand-binding (Potential). eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 12 GATATCTCCAGGTAGGGCAGT 0.403000 4 50 0 0 1 0 0 ZNF595 152687 broad.mit.edu 37 4 59442 59442 + Silent SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr4:59442C>T ENST00000509152.2 + 2 308 c.123C>T c.(121-123)gtC>gtT p.V41V ZNF595_ENST00000526473.2_Silent_p.V41V|ZNF595_ENST00000339368.6_3'UTR zinc finger protein 595 endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2) 20 all_cancers(4;0.0738)|all_epithelial(65;0.139) Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173) GGAACCTGGTCTCCCTGGGTG 0.433000 24 559 0 0 1 0 0 KLHL38 340359 broad.mit.edu 37 8 124664134 124664134 + Missense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr8:124664134C>T ENST00000325995.7 - 1 1056 c.1033G>A c.(1033-1035)Ggg>Agg p.G345R CTD-2552K11.2_ENST00000524355.1_RNA NM_001081675.2 NP_001075144.2 Q2WGJ6 KLH38_HUMAN kelch-like family member 38 345 breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1) 38 AGACTCCTCCCTGAGCTGACA 0.587000 51 56 0 0 1 0 0 ACSS1 84532 broad.mit.edu 37 20 25003716 25003716 + Nonsense_Mutation SNP C C A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr20:25003716C>A ENST00000537502.1 - 3 2102 c.571G>T c.(571-573)Gag>Tag p.E191* ACSS1_ENST00000323482.4_Nonsense_Mutation_p.E274*|ACSS1_ENST00000432802.2_Nonsense_Mutation_p.E274*|ACSS1_ENST00000542618.1_Nonsense_Mutation_p.E153* Q9NUB1 ACS2L_HUMAN acyl-CoA synthetase short-chain family member 1 274 acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process mitochondrial matrix acetate-CoA ligase activity|AMP binding|ATP binding|protein binding NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 26 Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171) ACAGGGTCCTCCTTGGCCATT 0.602000 10 18 0.000673444 0.000676138 1 1 0 GRB7 2886 broad.mit.edu 37 17 37899506 37899506 + Silent SNP C C T rs149753893 TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr17:37899506C>T ENST00000309156.4 + 5 794 c.537C>T c.(535-537)ttC>ttT p.F179F GRB7_ENST00000394209.2_Silent_p.F179F|GRB7_ENST00000309185.3_Silent_p.F179F|GRB7_ENST00000394204.1_Silent_p.F179F|GRB7_ENST00000394211.3_Silent_p.F179F|GRB7_ENST00000445327.2_Silent_p.F202F|GRB7_ENST00000578702.1_3'UTR NM_005310.3 NP_005301.2 Q14451 GRB7_HUMAN growth factor receptor-bound protein 7 179 Ras-associating. blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly cytosol|focal adhesion|stress granule phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 18 all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171) ATAGCCGCTTCGTCTTCCGGA 0.612000 21 61 0 0 1 0 0 MAGEA10 4109 broad.mit.edu 37 X 151303864 151303864 + Missense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chrX:151303864C>T ENST00000370323.4 - 4 545 c.229G>A c.(229-231)Gat>Aat p.D77N MAGEA10_ENST00000244096.3_Missense_Mutation_p.D77N|RP11-1007I13.4_ENST00000509345.2_RNA NM_001251828.1|NM_021048.4 NP_001238757.1|NP_066386.2 P43363 MAGAA_HUMAN melanoma antigen family A, 10 77 endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Acute lymphoblastic leukemia(192;6.56e-05) GTCTCATCATCAGCAGAAACC 0.542000 83 169 0 0 1 0 0 E2F4 1874 broad.mit.edu 37 16 67228866 67228866 + Missense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr16:67228866C>T ENST00000379378.3 + 6 850 c.791C>T c.(790-792)cCa>cTa p.P264L NM_001950.3 NP_001941.2 Q16254 E2F4_HUMAN E2F transcription factor 4, p107/p130-binding 264 G1 phase of mitotic cell cycle transcription factor complex DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription factor binding breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2) 11 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325) ATGGCTGGCCCAGCAGCTGAG 0.577000 6 32 0 0 1 0 0 MVK 4598 broad.mit.edu 37 12 110013874 110013874 + Silent SNP C C T rs104895327 TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr12:110013874C>T ENST00000228510.3 + 3 226 c.150C>T c.(148-150)gaC>gaT p.D50D MVK_ENST00000535044.1_3'UTR|MVK_ENST00000541384.1_5'UTR|MVK_ENST00000539696.1_Intron|MVK_ENST00000539575.1_Silent_p.D50D|MVK_ENST00000392727.3_Silent_p.D50D NM_000431.2|NM_001114185.1 NP_000422.1|NP_001107657.1 Q03426 KIME_HUMAN mevalonate kinase 50 cholesterol biosynthetic process|isoprenoid biosynthetic process cytosol|peroxisome ATP binding|identical protein binding|mevalonate kinase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1) 8 GGAAAGTGGACCTCAGCTTAC 0.498000 23 58 0 0 1 0 0 ATP8B4 79895 broad.mit.edu 37 15 50271986 50271986 + Missense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr15:50271986C>T ENST00000284509.6 - 12 1003 c.862G>A c.(862-864)Gga>Aga p.G288R ATP8B4_ENST00000559829.1_Missense_Mutation_p.G288R|ATP8B4_ENST00000558959.1_Intron NM_024837.2 NP_079113.2 Q8TF62 AT8B4_HUMAN ATPase, class I, type 8B, member 4 288 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1) 73 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) AGAATAATTCCCAAGCATATC 0.358000 16 21 0 0 1 0 0 FAM155B 27112 broad.mit.edu 37 X 68725707 68725707 + Silent SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chrX:68725707C>T ENST00000252338.4 + 1 624 c.582C>T c.(580-582)ttC>ttT p.F194F NM_015686.2 NP_056501.2 O75949 F155B_HUMAN family with sequence similarity 155, member B 194 integral to membrane autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1) 16 TTCGGAACTTCACTCTCTCCT 0.637000 29 64 0 0 1 0 0 CNGB1 1258 broad.mit.edu 37 16 57931768 57931768 + Silent SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr16:57931768G>A ENST00000564448.1 - 30 3069 c.3009C>T c.(3007-3009)gtC>gtT p.V1003V CNGB1_ENST00000251102.8_Silent_p.V1009V Q14028 CNGB1_HUMAN cyclic nucleotide gated channel beta 1 1009 sensory perception of smell intracellular cyclic nucleotide activated cation channel complex cAMP binding|intracellular cAMP activated cation channel activity breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 54 GGCCGCCCAAGACCTGCACTT 0.547000 62 161 0 0 1 0 0 ARF6 382 broad.mit.edu 37 14 50360612 50360612 + Missense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr14:50360612C>T ENST00000298316.5 + 2 705 c.158C>T c.(157-159)aCt>aTt p.T53I NM_001663.3 NP_001654.1 P62330 ARF6_HUMAN ADP-ribosylation factor 6 53 cell adhesion|cellular component movement|cortical actin cytoskeleton organization|negative regulation of receptor-mediated endocytosis|positive regulation of actin filament polymerization|positive regulation of establishment of protein localization in plasma membrane|protein localization at cell surface|protein transport|regulation of dendritic spine development|regulation of filopodium assembly|regulation of Rac protein signal transduction|ruffle organization|small GTPase mediated signal transduction|vesicle-mediated transport cell cortex|endosome membrane|filopodium membrane|Golgi apparatus|membrane fraction|ruffle GTP binding|GTPase activity|thioesterase binding endometrium(1)|kidney(1)|large_intestine(1)|ovary(1) 4 all_epithelial(31;0.000822)|Breast(41;0.0117) GAGACGGTGACTTACAAAAAT 0.562000 18 36 0 0 1 0 0 BPIFA2 140683 broad.mit.edu 37 20 31761953 31761953 + Missense_Mutation SNP A A C TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr20:31761953A>C ENST00000253362.2 + 4 517 c.371A>C c.(370-372)aAc>aCc p.N124T BPIFA2_ENST00000354932.5_Missense_Mutation_p.N124T Q96DR5 SPLC2_HUMAN BPI fold containing family A, member 2 124 extracellular region lipid binding AAAGGCCTTAACCTGAGCTTC 0.517000 30 86 0 0 1 0 0 SLC12A7 10723 broad.mit.edu 37 5 1081704 1081704 + Missense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr5:1081704G>A ENST00000264930.5 - 9 1328 c.1285C>T c.(1285-1287)Cct>Tct p.P429S NM_006598.2 NP_006589.2 Q9Y666 S12A7_HUMAN solute carrier family 12 (potassium/chloride transporter), member 7 429 potassium ion transport|sodium ion transport integral to plasma membrane potassium:chloride symporter activity breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2) 32 Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09) Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165) Potassium Chloride(DB00761) GTCACGGAAGGGAAGTAGATG 0.622000 17 51 0 0 1 0 0 RAI1 10743 broad.mit.edu 37 17 17700783 17700783 + Silent SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr17:17700783C>T ENST00000353383.1 + 3 4990 c.4521C>T c.(4519-4521)gcC>gcT p.A1507A RAI1_ENST00000261641.6_Silent_p.A1507A NM_030665.3 NP_109590.3 Q7Z5J4 RAI1_HUMAN retinoic acid induced 1 1507 cytoplasm|nucleus zinc ion binding breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7) 48 READ - Rectum adenocarcinoma(1115;0.0276) TGGGCCTGGCCTCCCAGCCCC 0.642000 23 45 0 0 1 0 0 STRA6 64220 broad.mit.edu 37 15 74481511 74481511 + Silent SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr15:74481511G>A ENST00000323940.5 - 12 1280 c.1035C>T c.(1033-1035)tcC>tcT p.S345S STRA6_ENST00000449139.2_Silent_p.S345S|STRA6_ENST00000574439.1_5'UTR|STRA6_ENST00000423167.2_Silent_p.S336S|STRA6_ENST00000395105.4_Silent_p.S345S|STRA6_ENST00000535552.1_Silent_p.S382S|STRA6_ENST00000563965.1_Silent_p.S384S|STRA6_ENST00000574278.1_Silent_p.S360S|STRA6_ENST00000416286.3_Silent_p.S337S NM_001142617.1|NM_001142618.1|NM_001142619.1 NP_001136089.1|NP_001136090.1|NP_001136091.1 Q9BX79 STRA6_HUMAN stimulated by retinoic acid 6 345 adrenal gland development|alveolar primary septum development|developmental growth|diaphragm development|digestive tract morphogenesis|ear development|embryonic camera-type eye formation|embryonic digestive tract development|eyelid development in camera-type eye|face morphogenesis|feeding behavior|female genitalia development|kidney development|lung vasculature development|neuromuscular process|nose morphogenesis|paramesonephric duct development|positive regulation of behavior|pulmonary artery morphogenesis|pulmonary valve morphogenesis|smooth muscle tissue development|transport|uterus morphogenesis|ventricular septum development|vocal learning integral to membrane|plasma membrane|protein complex receptor activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|stomach(2) 26 GCTTGTCCTCGGAGAGCACGA 0.622000 13 20 0 0 1 0 0 HCFC1 3054 broad.mit.edu 37 X 153223312 153223312 + Missense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chrX:153223312G>A ENST00000310441.7 - 12 3020 c.2054C>T c.(2053-2055)tCg>tTg p.S685L HCFC1_ENST00000369984.4_Missense_Mutation_p.S685L|HCFC1_ENST00000354233.3_Missense_Mutation_p.S616L NM_005334.2 NP_005325.2 P51610 HCFC1_HUMAN host cell factor C1 (VP16-accessory protein) 685 Interaction with SIN3A. cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CTGGACCACCGACATCACTTT 0.532000 28 80 0 0 1 0 0 SELL 6402 broad.mit.edu 37 1 169672428 169672428 + Missense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr1:169672428C>T ENST00000236147.4 - 6 1119 c.959G>A c.(958-960)gGa>gAa p.G320E C1orf112_ENST00000498289.1_Intron|SELL_ENST00000463108.1_5'UTR NM_000655.4 NP_000646.2 P14151 LYAM1_HUMAN selectin L 307 blood coagulation|cell adhesion|leukocyte migration|regulation of immune response integral to plasma membrane glycosphingolipid binding|heparin binding|protease binding|sugar binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1) 15 all_hematologic(923;0.208) TGACCAGATTCCAGATGATTC 0.423000 3 16 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228474636 228474636 + Missense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr1:228474636G>A ENST00000570156.2 + 40 10801 c.10727G>A c.(10726-10728)gGc>gAc p.G3576D OBSCN_ENST00000359599.6_Missense_Mutation_p.G1994D|OBSCN_ENST00000284548.11_Missense_Mutation_p.G3147D|OBSCN_ENST00000366709.4_Missense_Mutation_p.G266D|OBSCN_ENST00000366707.4_Missense_Mutation_p.G266D|OBSCN_ENST00000422127.1_Missense_Mutation_p.G3147D NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 2609 Ig-like 36. 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) AGCCATGAGGGCCACCGGGCC 0.662000 7 16 0 0 1 0 0 SPEF2 79925 broad.mit.edu 37 5 35691271 35691271 + Missense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr5:35691271C>T ENST00000440995.2 + 11 1657 c.1657C>T c.(1657-1659)Cct>Tct p.P553S CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Missense_Mutation_p.P553S|SPEF2_ENST00000509059.1_Missense_Mutation_p.P553S Q9C093 SPEF2_HUMAN sperm flagellar 2 553 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 37 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) ATCAACAACACCTGAATTACC 0.388000 27 81 0 0 1 0 0 RABGAP1L 9910 broad.mit.edu 37 1 174606561 174606561 + Missense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr1:174606561C>T ENST00000251507.4 + 14 1933 c.1759C>T c.(1759-1761)Ccc>Tcc p.P587S NM_014857.4 NP_055672.3 Q5R372 RBG1L_HUMAN RAB GTPase activating protein 1-like 587 Rab-GAP TBC. regulation of protein localization early endosome|Golgi apparatus|nucleus Rab GTPase activator activity NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2) 45 TCGTACATTTCCCGCACATGA 0.358000 25 70 0 0 1 0 0 OCM 654231 broad.mit.edu 37 7 5923527 5923527 + Silent SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr7:5923527C>T ENST00000242104.5 + 3 293 c.201C>T c.(199-201)ttC>ttT p.F67F OCM_ENST00000416608.1_Silent_p.F67F NM_001097622.1 NP_001091091.1 P0CE72 ONCO_HUMAN oncomodulin 67 EF-hand 1. calcium ion binding endometrium(1)|large_intestine(3)|lung(2) 6 Ovarian(82;0.0694) UCEC - Uterine corpus endometrioid carcinoma (126;0.0978)|OV - Ovarian serous cystadenocarcinoma(56;2.11e-14) GTAGGTTTTTCCTCCAGAAGT 0.428000 9 16 0 0 1 0 0 KCNK18 338567 broad.mit.edu 37 10 118969155 118969155 + Missense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr10:118969155G>A ENST00000334549.1 + 3 500 c.500G>A c.(499-501)cGa>cAa p.R167Q NM_181840.1 NP_862823.1 Q7Z418 KCNKI_HUMAN potassium channel, subfamily K, member 18 167 integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 41 Colorectal(252;0.19) all cancers(201;0.0211) AATCGGTTCCGAAAATTCCCT 0.507000 37 53 0 0 1 0 0 EPS8L1 54869 broad.mit.edu 37 19 55593919 55593919 + Missense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr19:55593919C>T ENST00000201647.6 + 12 1219 c.1163C>T c.(1162-1164)cCa>cTa p.P388L EPS8L1_ENST00000586329.1_Missense_Mutation_p.P370L|EPS8L1_ENST00000245618.5_Missense_Mutation_p.P261L|EPS8L1_ENST00000540810.1_Missense_Mutation_p.P324L|EPS8L1_ENST00000592824.1_3'UTR|EPS8L1_ENST00000588359.1_Missense_Mutation_p.P42L NM_133180.2 NP_573441.2 Q8TE68 ES8L1_HUMAN EPS8-like 1 388 cytoplasm NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1) 12 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.044) AACGTCACTCCACGTGAAAAC 0.677000 4 3 0 0 1 0 0 CDR1 1038 broad.mit.edu 37 X 139866313 139866313 + Missense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chrX:139866313C>T ENST00000370532.2 - 1 410 c.219G>A c.(217-219)atG>atA p.M73I NM_004065.2 NP_004056.2 P51861 CDR1_HUMAN cerebellar degeneration-related protein 1, 34kDa 73 23 X 6 AA approximate repeats. breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1) 25 Acute lymphoblastic leukemia(192;7.65e-05) Lung SC(4;0.051) CCCTCAAATCCATAGCTTCCG 0.453000 51 99 0 0 1 0 0 PGM1 5236 broad.mit.edu 37 1 64089270 64089270 + Missense_Mutation SNP T T C TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr1:64089270T>C ENST00000371083.4 + 1 507 c.139T>C c.(139-141)Ttt>Ctt p.F47L PGM1_ENST00000371084.3_Intron|PGM1_ENST00000540265.1_Intron NM_001172818.1 NP_001166289.1 P36871 PGM1_HUMAN phosphoglucomutase 1 29 cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol magnesium ion binding|phosphoglucomutase activity breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 20 AACCTATTATTTTGAGGAAAA 0.428000 19 34 0 0 1 0 0 FDXR 2232 broad.mit.edu 37 17 72863070 72863070 + Missense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr17:72863070C>T ENST00000442102.2 - 3 321 c.235G>A c.(235-237)Gaa>Aaa p.E79K FDXR_ENST00000544854.1_Intron|FDXR_ENST00000420580.2_Intron|FDXR_ENST00000455107.2_Intron|FDXR_ENST00000583917.1_Intron|FDXR_ENST00000293195.5_Intron|FDXR_ENST00000582944.1_Intron|FDXR_ENST00000581969.1_Intron|FDXR_ENST00000581530.1_Intron|FDXR_ENST00000413947.2_Intron NM_001258012.1 NP_001244941.1 P22570 ADRO_HUMAN ferredoxin reductase 59 cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport mitochondrial matrix ferredoxin-NADP+ reductase activity|protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1) 16 all_lung(278;0.172)|Lung NSC(278;0.207) TCCTCCCCTTCCCCAGACAGA 0.637000 5 0 0 0 1 0 0 OR5P3 120066 broad.mit.edu 37 11 7847156 7847156 + Missense_Mutation SNP G G A rs117218570 by1000genomes TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr11:7847156G>A ENST00000328375.1 - 1 363 c.364C>T c.(364-366)Cgc>Tgc p.R122C RP11-35J10.5_ENST00000527565.1_lincRNA NM_153445.1 NP_703146.1 Q8WZ94 OR5P3_HUMAN olfactory receptor, family 5, subfamily P, member 3 122 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1) 15 Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) GCCACATAGCGATCATAGGCC 0.557000 35 88 0 0 1 0 0 RSAD1 55316 broad.mit.edu 37 17 48559536 48559536 + Missense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr17:48559536C>T ENST00000258955.2 + 4 644 c.559C>T c.(559-561)Ctc>Ttc p.L187F NM_018346.1 NP_060816.1 Q9HA92 RSAD1_HUMAN radical S-adenosyl methionine domain containing 1 187 porphyrin biosynthetic process mitochondrion 4 iron, 4 sulfur cluster binding|coproporphyrinogen oxidase activity|metal ion binding breast(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 16 Breast(11;1.93e-18) BRCA - Breast invasive adenocarcinoma(22;1.55e-09) GGCCCGGCGCCTCTTTCCCGG 0.662000 OREG0024567 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 31 62 0 0 1 0 0 MDN1 23195 broad.mit.edu 37 6 90438745 90438745 + Missense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr6:90438745C>T ENST00000369393.3 - 36 5369 c.5254G>A c.(5254-5256)Gag>Aag p.E1752K MDN1_ENST00000428876.1_Missense_Mutation_p.E1752K Q9NU22 MDN1_HUMAN MDN1, midasin homolog (yeast) 1752 protein complex assembly|regulation of protein complex assembly nucleus ATP binding|ATPase activity|unfolded protein binding NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 218 all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246) BRCA - Breast invasive adenocarcinoma(108;0.0193) GGGGAACCCTCCAGGAGAATG 0.468000 19 40 0 0 1 0 0 OR2M3 127062 broad.mit.edu 37 1 248367224 248367224 + Silent SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr1:248367224G>A ENST00000456743.1 + 1 893 c.855G>A c.(853-855)ttG>ttA p.L285L NM_001004689.1 NP_001004689.1 Q8NG83 OR2M3_HUMAN olfactory receptor, family 2, subfamily M, member 3 285 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 50 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0245) CTCCCATGTTGAATCCCCTCA 0.478000 56 87 0 0 1 0 0 SLFN5 162394 broad.mit.edu 37 17 33585883 33585883 + Silent SNP C C T rs138878596 by1000genomes TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr17:33585883C>T ENST00000299977.4 + 2 322 c.174C>T c.(172-174)atC>atT p.I58I SLFN5_ENST00000592325.1_Silent_p.I58I|SLFN5_ENST00000542451.1_Silent_p.I58I NM_144975.3 NP_659412.3 Q08AF3 SLFN5_HUMAN schlafen family member 5 58 cell differentiation ATP binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2) 34 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0191) GGGGCATAATCAAGGCTGAGA 0.478000 37 77 0 0 1 0 0 CATSPER1 117144 broad.mit.edu 37 11 65793414 65793414 + Missense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr11:65793414C>T ENST00000312106.5 - 1 574 c.437G>A c.(436-438)gGg>gAg p.G146E NM_053054.3 NP_444282.3 Q8NEC5 CTSR1_HUMAN cation channel, sperm associated 1 146 His-rich. cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane protein binding breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 44 ATGGTGAGACCCCCTATGGTA 0.557000 21 31 0 0 1 0 0 C12orf71 728858 broad.mit.edu 37 12 27235017 27235017 + Missense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr12:27235017G>A ENST00000429849.2 - 1 430 c.400C>T c.(400-402)Ctt>Ttt p.L134F NM_001080406.1 NP_001073875.1 A8MTZ7 CL071_HUMAN chromosome 12 open reading frame 71 134 endometrium(2)|large_intestine(1)|lung(4)|skin(1) 8 TCTTGCACAAGATTATTCAGT 0.413000 3 9 0 0 1 0 0 IGKV6D-21 28870 broad.mit.edu 37 2 90060923 90060923 + RNA SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr2:90060923C>T ENST00000436451.2 + 0 337 GGACAGATTTCACCCTCACCA 0.483000 44 98 0 0 1 0 0 GBA3 57733 broad.mit.edu 37 4 22749320 22749320 + RNA SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr4:22749320G>A ENST00000511446.1 + 0 691 GBA3_ENST00000503442.1_RNA|GBA3_ENST00000508166.1_RNA NM_001277225.1 NP_001264154.1 Q9H227 GBA3_HUMAN glucosidase, beta, acid 3 (gene/pseudogene) glycoside catabolic process|glycosylceramide catabolic process cytosol beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 GGTCTGGTTGGAACCAGCAGA 0.433000 57 116 0 0 1 0 0 FNDC1 84624 broad.mit.edu 37 6 159653921 159653921 + Missense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr6:159653921G>A ENST00000297267.9 + 11 2577 c.2377G>A c.(2377-2379)Gat>Aat p.D793N FNDC1_ENST00000340366.6_Missense_Mutation_p.D730N NM_032532.2 NP_115921.2 Q4ZHG4 FNDC1_HUMAN fibronectin type III domain containing 1 793 extracellular region NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3) 93 Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195) OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05) CGGTGACGGCGATAGGGAAGA 0.632000 12 19 0 0 1 0 0 RAI1 10743 broad.mit.edu 37 17 17700781 17700781 + Missense_Mutation SNP G G T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr17:17700781G>T ENST00000353383.1 + 3 4988 c.4519G>T c.(4519-4521)Gcc>Tcc p.A1507S RAI1_ENST00000261641.6_Missense_Mutation_p.A1507S NM_030665.3 NP_109590.3 Q7Z5J4 RAI1_HUMAN retinoic acid induced 1 1507 cytoplasm|nucleus zinc ion binding breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7) 48 READ - Rectum adenocarcinoma(1115;0.0276) GCTGGGCCTGGCCTCCCAGCC 0.647000 22 44 1.55795e-14 1.57998e-14 1 1 0 OR2T3 343173 broad.mit.edu 37 1 248637521 248637521 + Silent SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr1:248637521G>A ENST00000359594.2 + 1 895 c.870G>A c.(868-870)ctG>ctA p.L290L NM_001005495.1 NP_001005495.1 Q8NH03 OR2T3_HUMAN olfactory receptor, family 2, subfamily T, member 3 290 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3) 31 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) CTCCTGTGCTGAACCCCCTCA 0.498000 35 243 0 0 1 0 0 OR12D2 26529 broad.mit.edu 37 6 29364950 29364950 + Silent SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr6:29364950C>T ENST00000383555.2 + 1 535 c.474C>T c.(472-474)tcC>tcT p.S158S OR5V1_ENST00000377154.1_Intron NM_013936.3 NP_039224.2 P58182 O12D2_HUMAN olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene) 158 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 31 TGCTGCACTCCGTAATGACTT 0.488000 52 81 0 0 1 0 0 CDHR4 389118 broad.mit.edu 37 3 49836761 49836761 + Silent SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr3:49836761C>T ENST00000412678.2 - 2 167 c.159G>A c.(157-159)ctG>ctA p.L53L CDHR4_ENST00000487256.1_Silent_p.L53L|CDHR4_ENST00000343366.4_Silent_p.L53L NM_001007540.2 NP_001007541.2 A6H8M9 CDHR4_HUMAN cadherin-related family member 4 53 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(3) 11 TGAGCAACTCCAGGGTGGGTG 0.567000 6 14 0 0 1 0 0 CEBPE 1053 broad.mit.edu 37 14 23587926 23587926 + Silent SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr14:23587926C>T ENST00000206513.5 - 1 899 c.375G>A c.(373-375)cgG>cgA p.R125R NM_001805.3 NP_001796.2 Q15744 CEBPE_HUMAN CCAAT/enhancer binding protein (C/EBP), epsilon 125 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1) 9 all_cancers(95;4.6e-05) GBM - Glioblastoma multiforme(265;0.0064) CCTCTGGCCCCCGGGGCTCCT 0.672000 8 19 0 0 1 0 0 UBE2Q2 92912 broad.mit.edu 37 15 76146731 76146731 + Missense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr15:76146731C>T ENST00000267938.4 + 2 567 c.185C>T c.(184-186)tCc>tTc p.S62F UBE2Q2_ENST00000562635.1_3'UTR|UBE2Q2_ENST00000338677.4_Missense_Mutation_p.S62F|UBE2Q2_ENST00000561851.1_Missense_Mutation_p.S46F|UBE2Q2_ENST00000569423.1_Missense_Mutation_p.S62F NM_173469.2 NP_775740.1 Q8WVN8 UB2Q2_HUMAN ubiquitin-conjugating enzyme E2Q family member 2 62 protein K48-linked ubiquitination cytoplasm ATP binding|ubiquitin-protein ligase activity endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2) 12 AAACAGGAATCCTATCCATCT 0.378000 7 27 0 0 1 0 0 WBP11 51729 broad.mit.edu 37 12 14947652 14947652 + Silent SNP A A T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr12:14947652A>T ENST00000261167.2 - 7 773 c.540T>A c.(538-540)gtT>gtA p.V180V WBP11_ENST00000537574.1_Silent_p.V180V NM_016312.2 NP_057396.1 Q9Y2W2 WBP11_HUMAN WW domain binding protein 11 180 Pro-rich. mRNA processing|RNA splicing|rRNA processing cytoplasm single-stranded DNA binding|WW domain binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1) 30 GAAGGATAGAAACTGCCCGAG 0.448000 29 65 0 0 1 0 0 OR5M10 390167 broad.mit.edu 37 11 56345162 56345162 + Silent SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr11:56345162G>A ENST00000526812.2 - 1 101 c.36C>T c.(34-36)ttC>ttT p.F12F NM_001004741.1 NP_001004741.1 Q6IEU7 OR5MA_HUMAN olfactory receptor, family 5, subfamily M, member 10 12 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2) 25 CTAAGAGAATGAATTCTGTCA 0.453000 21 55 0 0 1 0 0 ADAMTS9 56999 broad.mit.edu 37 3 64532455 64532455 + Nonsense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr3:64532455C>T ENST00000498707.1 - 32 5385 c.5043G>A c.(5041-5043)tgG>tgA p.W1681* ADAMTS9_ENST00000295903.4_Nonsense_Mutation_p.W1653* NM_182920.1 NP_891550.1 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 9 1681 TSP type-1 15. glycoprotein catabolic process|multicellular organismal development|proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 100 Lung NSC(201;0.00682) BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221) TGCCAACTCTCCAGGTGGCCG 0.547000 34 60 0 0 1 0 0 PTPRB 5787 broad.mit.edu 37 12 70954541 70954541 + Nonsense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr12:70954541G>A ENST00000334414.6 - 17 4386 c.4342C>T c.(4342-4344)Caa>Taa p.Q1448* PTPRB_ENST00000261266.5_Nonsense_Mutation_p.Q1230*|PTPRB_ENST00000550358.1_Nonsense_Mutation_p.Q1360*|PTPRB_ENST00000538708.1_Nonsense_Mutation_p.Q1140*|PTPRB_ENST00000451516.2_Nonsense_Mutation_p.Q1140*|PTPRB_ENST00000551525.1_Nonsense_Mutation_p.Q1447*|PTPRB_ENST00000550857.1_Nonsense_Mutation_p.Q1140* NM_001109754.2 NP_001103224.1 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B 1230 Fibronectin type-III 17. angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3) 107 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) ACAAGGCCTTGAAACCGCCAC 0.493000 9 17 0 0 1 0 0 TRPM8 79054 broad.mit.edu 37 2 234894470 234894470 + Missense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr2:234894470C>T ENST00000324695.4 + 21 2940 c.2900C>T c.(2899-2901)aCc>aTc p.T967I TRPM8_ENST00000433712.2_Missense_Mutation_p.T545I NM_024080.4 NP_076985.4 Q7Z2W7 TRPM8_HUMAN transient receptor potential cation channel, subfamily M, member 8 967 integral to membrane p.T967N(1) breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2) 66 Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224) Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108) Menthol(DB00825) ATGTTATCCACCAACATCCTG 0.567000 13 21 0 0 1 0 0 STARD13 90627 broad.mit.edu 37 13 33703378 33703378 + Missense_Mutation SNP T T A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr13:33703378T>A ENST00000336934.5 - 5 1552 c.1436A>T c.(1435-1437)aAa>aTa p.K479I STARD13_ENST00000255486.4_Missense_Mutation_p.K471I|STARD13_ENST00000399365.3_Missense_Mutation_p.K361I NM_001243476.1|NM_178006.3 NP_001230405.1|NP_821074.1 Q9Y3M8 STA13_HUMAN StAR-related lipid transfer (START) domain containing 13 479 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|lipid particle|mitochondrial membrane GTPase activator activity|protein binding breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1) 40 all_epithelial(80;0.155) Lung SC(185;0.0367) all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143) AAGGTCATCTTTCTCCAAGTC 0.507000 30 47 0 0 1 0 0 PCDHB3 56132 broad.mit.edu 37 5 140480892 140480892 + Missense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr5:140480892C>T ENST00000231130.2 + 1 659 c.659C>T c.(658-660)cCc>cTc p.P220L AC005754.7_ENST00000607216.1_RNA NM_018937.2 NP_061760.1 Q9Y5E6 PCDB3_HUMAN 220 Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 72 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GGCGGCTCTCCCCCTCGGTCT 0.552000 16 32 0 0 1 0 0 OGFOD3 79701 broad.mit.edu 37 17 80352403 80352403 + Silent SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr17:80352403C>T ENST00000329197.5 - 9 930 c.840G>A c.(838-840)cgG>cgA p.R280R OGFOD3_ENST00000313056.5_Intron 2-oxoglutarate and iron-dependent oxygenase domain containing 3 AAGACATCATCCGGAAACAAA 0.582000 31 74 0 0 1 0 0 UGT2B15 7366 broad.mit.edu 37 4 69535692 69535692 + Missense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr4:69535692C>T ENST00000338206.5 - 1 654 c.645G>A c.(643-645)atG>atA p.M215I NM_001076.3 NP_001067.2 P54855 UDB15_HUMAN UDP glucuronosyltransferase 2 family, polypeptide B15 215 steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity GCATATGTATCATATTTTTTA 0.343000 37 95 0 0 1 0 0 IFNA21 3452 broad.mit.edu 37 9 21166195 21166195 + Silent SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr9:21166195G>A ENST00000380225.1 - 1 464 c.417C>T c.(415-417)tcC>tcT p.S139S NM_002175.2 NP_002166.2 P01568 IFN21_HUMAN interferon, alpha 21 139 blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway extracellular space cytokine activity|cytokine receptor binding NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3) 14 GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13) CAGCCAGGATGGAGTCCACAT 0.463000 93 100 0 0 1 0 0 A4GNT 51146 broad.mit.edu 37 3 137843393 137843393 + Missense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr3:137843393C>T ENST00000236709.3 - 3 937 c.736G>A c.(736-738)Gac>Aac p.D246N NM_016161.2 NP_057245.1 Q9UNA3 A4GCT_HUMAN alpha-1,4-N-acetylglucosaminyltransferase 246 protein O-linked glycosylation Golgi membrane|Golgi stack|integral to membrane|membrane fraction acetylglucosaminyltransferase activity|galactosyltransferase activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7) 16 CACCTGAGGTCGCTCACCTCC 0.483000 22 52 0 0 1 0 0 DCX 1641 broad.mit.edu 37 X 110654119 110654119 + Silent SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chrX:110654119G>A ENST00000338081.3 - 1 255 c.84C>T c.(82-84)tcC>tcT p.S28S DCX_ENST00000371993.2_Intron|DCX_ENST00000356915.2_Intron|DCX_ENST00000356220.3_Intron|DCX_ENST00000496551.1_Intron|DCX_ENST00000488120.1_Intron NM_000555.3 NP_000546.2 O43602 DCX_HUMAN doublecortin 28 axon guidance|central nervous system development|intracellular signal transduction cytosol|microtubule associated complex microtubule binding breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1) 41 GAGAACAGAAGGAGCTACCCA 0.418000 75 151 0 0 1 0 0 LEKR1 389170 broad.mit.edu 37 3 156729226 156729226 + Silent SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr3:156729226G>A ENST00000470811.1 + 11 1557 c.222G>A c.(220-222)caG>caA p.Q74Q LEKR1_ENST00000356539.4_Silent_p.Q378Q D3DNK7 D3DNK7_HUMAN leucine, glutamate and lysine rich 1 83 breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1) 11 LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465) TTTCACATCAGAAAAGCATCG 0.443000 12 25 0 0 1 0 0 OTOP1 133060 broad.mit.edu 37 4 4199274 4199274 + Silent SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr4:4199274G>A ENST00000296358.4 - 5 1311 c.1287C>T c.(1285-1287)tcC>tcT p.S429S NM_177998.1 NP_819056.1 Q7RTM1 OTOP1_HUMAN otopetrin 1 429 biomineral tissue development extracellular space|integral to membrane NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 34 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) TCGCCAGGATGGAGTAGGGCA 0.562000 27 81 0 0 1 0 0 ENPEP 2028 broad.mit.edu 37 4 111398043 111398043 + Missense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr4:111398043G>A ENST00000265162.5 + 1 815 c.473G>A c.(472-474)cGg>cAg p.R158Q NM_001977.3 NP_001968.3 Q07075 AMPE_HUMAN glutamyl aminopeptidase (aminopeptidase A) 158 cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) L-Glutamic Acid(DB00142) GTGCAAGTCCGGAGGTGTTTC 0.627000 70 165 0 0 1 0 0 RNASEH2B 79621 broad.mit.edu 37 13 51501579 51501579 + Missense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr13:51501579G>A ENST00000336617.3 + 2 500 c.101G>A c.(100-102)gGg>gAg p.G34E RNASEH2B_ENST00000422660.1_Missense_Mutation_p.G34E NM_024570.3 NP_078846.2 Q5TBB1 RNH2B_HUMAN ribonuclease H2, subunit B 34 RNA catabolic process nucleus|ribonuclease H2 complex endometrium(2)|liver(1)|lung(1)|upper_aerodigestive_tract(1) 5 Acute lymphoblastic leukemia(7;1.03e-07)|Breast(56;0.00122)|Lung NSC(96;0.00143)|Prostate(109;0.0047)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;9e-08) ATGAAAAATGGGCTAATGTTT 0.308000 13 34 0 0 1 0 0 ROPN1L 83853 broad.mit.edu 37 5 10461434 10461434 + Missense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr5:10461434G>A ENST00000503804.1 + 5 1077 c.556G>A c.(556-558)Gag>Aag p.E186K ROPN1L_ENST00000274134.4_Missense_Mutation_p.E186K|ROPN1L_ENST00000510520.1_3'UTR Q96C74 ROP1L_HUMAN rhophilin associated tail protein 1-like 186 ciliary or flagellar motility|signal transduction cytoplasm|motile cilium cAMP-dependent protein kinase regulator activity|protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1) 14 GTCTCCCTTGGAGACGGAATC 0.502000 46 84 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 3565983 3565983 + Missense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr8:3565983C>T ENST00000520002.1 - 7 1517 c.962G>A c.(961-963)gGa>gAa p.G321E CSMD1_ENST00000539096.1_Missense_Mutation_p.G321E|CSMD1_ENST00000537824.1_Missense_Mutation_p.G321E|CSMD1_ENST00000542608.1_Missense_Mutation_p.G321E|CSMD1_ENST00000602723.1_Missense_Mutation_p.G321E|CSMD1_ENST00000400186.3_Missense_Mutation_p.G321E|CSMD1_ENST00000602557.1_Missense_Mutation_p.G321E Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 321 integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) CATCTTGACTCCTCTTGACTT 0.438000 18 36 0 0 1 0 0 KLHL22 84861 broad.mit.edu 37 22 20825681 20825681 + Silent SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr22:20825681G>A ENST00000328879.4 - 3 505 c.349C>T c.(349-351)Ctg>Ttg p.L117L KLHL22_ENST00000440659.2_Intron NM_032775.3 NP_116164.2 Q53GT1 KLH22_HUMAN kelch-like family member 22 117 BTB. cell division Cul3-RING ubiquitin ligase complex breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1) 20 Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173) ACATTGCTCAGGCTGAGCTCC 0.537000 13 43 0 0 1 0 0 RPSAP58 388524 broad.mit.edu 37 19 24010424 24010424 + Missense_Mutation SNP T T G TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr19:24010424T>G ENST00000496398.1 + 4 884 c.461T>G c.(460-462)cTg>cGg p.L154R RPSAP58_ENST00000354585.4_Missense_Mutation_p.L154R|RP11-255H23.2_ENST00000471224.1_RNA|RP11-255H23.4_ENST00000599944.1_lincRNA endometrium(1)|kidney(5)|lung(2)|prostate(1)|urinary_tract(1) 10 GATTCTCCTCTGCGCTATGTG 0.542000 15 18 0 0 1 0 0 DMRTC2 63946 broad.mit.edu 37 19 42351641 42351641 + Missense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr19:42351641G>A ENST00000269945.3 + 2 196 c.145G>A c.(145-147)Ggt>Agt p.G49S DMRTC2_ENST00000602098.1_3'UTR|DMRTC2_ENST00000596827.1_Missense_Mutation_p.G49S NM_001040283.1 NP_001035373.1 Q8IXT2 DMRTD_HUMAN DMRT-like family C2 49 cell differentiation|sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1) 10 CCGCAACCATGGTGTCACCGC 0.622000 40 47 0 0 1 0 0 CPEB4 80315 broad.mit.edu 37 5 173376543 173376543 + Missense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr5:173376543C>T ENST00000265085.5 + 6 2943 c.1489C>T c.(1489-1491)Cct>Tct p.P497S CPEB4_ENST00000520867.1_Missense_Mutation_p.P472S|CPEB4_ENST00000522336.1_Missense_Mutation_p.P107S|CPEB4_ENST00000519467.1_3'UTR|CPEB4_ENST00000334035.5_Missense_Mutation_p.P480S|CPEB4_ENST00000517880.1_Missense_Mutation_p.P90S|CPEB4_ENST00000519835.1_Missense_Mutation_p.P472S NM_030627.2 NP_085130.2 Q17RY0 CPEB4_HUMAN cytoplasmic polyadenylation element binding protein 4 497 RRM 1. nucleotide binding|RNA binding NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 20 Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183) TCGCTTTGGCCCTCTGATTGT 0.308000 10 26 0 0 1 0 0 OR4C15 81309 broad.mit.edu 37 11 55321932 55321932 + Silent SNP T T C TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr11:55321932T>C ENST00000314644.2 + 1 150 c.150T>C c.(148-150)ttT>ttC p.F50F NM_001001920.1 NP_001001920.1 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, member 15 0 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5) 56 CTTTCATCTTTTCCTTGGGAA 0.363000 HNSCC(20;0.049) 38 92 0 0 1 0 0 SCLT1 132320 broad.mit.edu 37 4 129924930 129924930 + Missense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr4:129924930C>T ENST00000281142.5 - 6 895 c.392G>A c.(391-393)aGa>aAa p.R131K SCLT1_ENST00000439369.2_Intron|SCLT1_ENST00000434680.1_Missense_Mutation_p.R131K|SCLT1_ENST00000503215.1_Missense_Mutation_p.R108K NM_144643.2 NP_653244.2 Q96NL6 SCLT1_HUMAN sodium channel and clathrin linker 1 131 centrosome central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1) 29 TTGAAGGTTTCTGACTGTTTC 0.338000 11 47 0 0 1 0 0 PCSK7 9159 broad.mit.edu 37 11 117100314 117100314 + Silent SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr11:117100314G>A ENST00000320934.3 - 3 877 c.247C>T c.(247-249)Ctg>Ttg p.L83L NM_004716.2 NP_004707.2 Q16549 PCSK7_HUMAN proprotein convertase subtilisin/kexin type 7 83 peptide hormone processing integral to Golgi membrane serine-type endopeptidase activity NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1) 16 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537) GCATTCACCAGCCCTGCTGCC 0.667000 T IGH@ MLCLS 23 50 0 0 1 0 0 CCDC36 339834 broad.mit.edu 37 3 49293771 49293771 + Missense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr3:49293771C>T ENST00000438782.1 + 8 1077 c.841C>T c.(841-843)Ctc>Ttc p.L281F CCDC36_ENST00000452691.2_Missense_Mutation_p.L281F|CCDC36_ENST00000296449.5_Missense_Mutation_p.L281F Q8IYA8 CCD36_HUMAN coiled-coil domain containing 36 281 endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3) 14 BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262) GGCCCAGAGCCTCAATCTCAC 0.542000 12 48 0 0 1 0 0 CD180 4064 broad.mit.edu 37 5 66481770 66481770 + Missense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr5:66481770C>T ENST00000256447.4 - 2 323 c.166G>A c.(166-168)Gaa>Aaa p.E56K NM_005582.2 NP_005573.2 Q99467 CD180_HUMAN CD180 molecule 56 inflammatory response|innate immune response integral to membrane|plasma membrane receptor activity cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2) 34 Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234) Lung(70;0.0046) TCCAAAAATTCTGTTGTGTTT 0.333000 30 31 0 0 1 0 0 CDH22 64405 broad.mit.edu 37 20 44815549 44815549 + Silent SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr20:44815549G>A ENST00000372262.3 - 8 1861 c.1461C>T c.(1459-1461)atC>atT p.I487I CDH22_ENST00000537909.1_Silent_p.I487I NM_021248.1 NP_067071.1 Q9UJ99 CAD22_HUMAN cadherin 22, type 2 487 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3) 44 Myeloproliferative disorder(115;0.0122) CCAGGATTCGGATCCTTAGGG 0.567000 70 138 0 0 1 0 0 NTNG2 84628 broad.mit.edu 37 9 135073874 135073874 + Silent SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr9:135073874G>A ENST00000393229.3 + 3 1511 c.735G>A c.(733-735)gaG>gaA p.E245E NTNG2_ENST00000393228.4_Silent_p.E245E|NTNG2_ENST00000360670.3_Silent_p.E245E|NTNG2_ENST00000372179.3_Silent_p.E245E NM_032536.2 NP_115925.2 Q96CW9 NTNG2_HUMAN netrin G2 245 Laminin N-terminal. axonogenesis anchored to plasma membrane central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 29 OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173) GCCTCAAGGAGTTCTTCACCC 0.647000 7 96 0 0 1 0 0 UBBP4 23666 broad.mit.edu 37 17 21731270 21731270 + Missense_Mutation SNP T T C TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr17:21731270T>C ENST00000584755.1 + 2 969 c.572T>C c.(571-573)aTc>aCc p.I191T UBBP4_ENST00000578713.1_Intron|UBBP4_ENST00000583708.1_3'UTR p.I191T(3) endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4) 24 ATCCCCCCGATCAGCAGAGGC 0.547000 4 88 0 0 1 0 0 STK31 56164 broad.mit.edu 37 7 23775375 23775375 + Silent SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr7:23775375G>A ENST00000354639.3 + 7 1097 c.633G>A c.(631-633)agG>agA p.R211R STK31_ENST00000355870.3_Silent_p.R234R|STK31_ENST00000433467.2_Silent_p.R234R|STK31_ENST00000428484.1_Silent_p.R211R|STK31_ENST00000405627.3_3'UTR NM_001260504.1|NM_032944.3 NP_001247433.1|NP_116562.2 Q9BXU1 STK31_HUMAN serine/threonine kinase 31 234 ATP binding|nucleic acid binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 TTGTTCTCAGGAACCTCAAAA 0.448000 30 60 0 0 1 0 0 ATP13A4 84239 broad.mit.edu 37 3 193132383 193132383 + Missense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr3:193132383G>A ENST00000342695.4 - 26 3321 c.2999C>T c.(2998-3000)tCc>tTc p.S1000F ATP13A4_ENST00000392443.3_Missense_Mutation_p.S981F|ATP13A4_ENST00000400270.2_Missense_Mutation_p.S16F NM_032279.2 NP_115655.2 Q4VNC1 AT134_HUMAN ATPase type 13A4 1000 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2) 71 all_cancers(143;1.76e-08)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;0.000109) TATCTCCACGGAATACCAAGG 0.463000 12 29 0 0 1 0 0 GPHB5 122876 broad.mit.edu 37 14 63779790 63779790 + RNA SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr14:63779790C>T ENST00000539258.1 - 0 300 Q86YW7 GPHB5_HUMAN glycoprotein hormone beta 5 extracellular region hormone activity breast(1)|endometrium(1)|lung(4)|urinary_tract(1) 7 OV - Ovarian serous cystadenocarcinoma(108;0.00372)|all cancers(60;0.0226)|BRCA - Breast invasive adenocarcinoma(234;0.0978) GGTACAGACTCGATGATGGGC 0.483000 6 7 0 0 1 0 0 GLYATL2 219970 broad.mit.edu 37 11 58601949 58601949 + Missense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr11:58601949G>A ENST00000287275.1 - 6 1228 c.838C>T c.(838-840)Cct>Tct p.P280S GLYATL2_ENST00000532258.1_Missense_Mutation_p.P280S NM_145016.3 NP_659453.3 Q8WU03 GLYL2_HUMAN glycine-N-acyltransferase-like 2 280 mitochondrion glycine N-acyltransferase activity breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 23 Breast(21;0.0044)|all_epithelial(135;0.0216) Glycine(DB00145) CAGCCACAAGGACAAATCTTA 0.353000 10 51 0 0 1 0 0 KANK2 25959 broad.mit.edu 37 19 11280857 11280857 + Missense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr19:11280857G>A ENST00000432929.2 - 11 2663 c.2303C>T c.(2302-2304)gCc>gTc p.A768V KANK2_ENST00000587317.1_5'UTR|KANK2_ENST00000589359.1_Missense_Mutation_p.A768V|KANK2_ENST00000589894.1_Missense_Mutation_p.A760V|KANK2_ENST00000586659.1_Missense_Mutation_p.A760V|KANK2_ENST00000355150.5_Missense_Mutation_p.A760V NM_001136191.2 NP_001129663.1 Q63ZY3 KANK2_HUMAN KN motif and ankyrin repeat domains 2 760 endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 TGCCTCACAGGCCAGCAGGGC 0.637000 28 45 0 0 1 0 0 AOX1 316 broad.mit.edu 37 2 201460035 201460035 + Silent SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr2:201460035C>T ENST00000374700.2 + 3 385 c.144C>T c.(142-144)ggC>ggT p.G48G NM_001159.3 NP_001150.3 Q06278 ADO_HUMAN aldehyde oxidase 1 48 2Fe-2S ferredoxin-type. inflammatory response|reactive oxygen species metabolic process cytoplasm 2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 81 Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909) GAGGAGGAGGCTGTGGTGCTT 0.408000 4 17 0 0 1 0 0 SLC9A9 285195 broad.mit.edu 37 3 143185968 143185968 + Missense_Mutation SNP C C T rs146502252 TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr3:143185968C>T ENST00000316549.6 - 12 1588 c.1380G>A c.(1378-1380)atG>atA p.M460I NM_173653.3 NP_775924.1 Q8IVB4 SL9A9_HUMAN solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9 460 regulation of pH integral to membrane|late endosome membrane|recycling endosome sodium:hydrogen antiporter activity breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1) 57 TGGTAAACATCATTTGTTTGG 0.468000 19 42 0 0 1 0 0 DCAF11 80344 broad.mit.edu 37 14 24590594 24590594 + Missense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr14:24590594C>T ENST00000446197.3 + 13 1994 c.1267C>T c.(1267-1269)Cca>Tca p.P423S DCAF11_ENST00000559115.1_Missense_Mutation_p.P423S|RP11-468E2.6_ENST00000558325.1_Missense_Mutation_p.P12L|DCAF11_ENST00000396941.4_Missense_Mutation_p.P397S|DCAF11_ENST00000396936.1_Missense_Mutation_p.P323S NM_025230.4 NP_079506.3 Q8TEB1 DCA11_HUMAN DDB1 and CUL4 associated factor 11 423 CUL4 RING ubiquitin ligase complex protein binding GCTGAAGCTCCCAGGGGACAG 0.572000 26 91 0 0 1 0 0 DLG4 1742 broad.mit.edu 37 17 7097293 7097293 + Nonsense_Mutation SNP A A C TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr17:7097293A>C ENST00000399510.2 - 15 2486 c.1634T>G c.(1633-1635)tTa>tGa p.L545* DLG4_ENST00000302955.6_Nonsense_Mutation_p.L499*|DLG4_ENST00000399506.2_Nonsense_Mutation_p.L502* NM_001365.3 NP_001356.1 P78352 DLG4_HUMAN discs, large homolog 4 (Drosophila) 502 Guanylate kinase-like. axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome protein binding|protein C-terminus binding breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2) 18 CTTGGCCTTTAACCTTGACCA 0.582000 8 22 0 0 1 0 0 MERTK 10461 broad.mit.edu 37 2 112751911 112751911 + Silent SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr2:112751911G>A ENST00000295408.4 + 9 1637 c.1380G>A c.(1378-1380)agG>agA p.R460R MERTK_ENST00000409780.1_Silent_p.R284R|MERTK_ENST00000421804.2_Silent_p.R460R Q12866 MERTK_HUMAN c-mer proto-oncogene tyrosine kinase 460 Fibronectin type-III 2. cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration integral to plasma membrane|soluble fraction ATP binding|transmembrane receptor protein tyrosine kinase activity breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10) 46 GCACAGTGAGGATTGCAGCCG 0.527000 53 134 0 0 1 0 0 ASXL2 55252 broad.mit.edu 37 2 25976476 25976476 + Nonsense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr2:25976476G>A ENST00000435504.4 - 11 1362 c.1069C>T c.(1069-1071)Cga>Tga p.R357* ASXL2_ENST00000336112.4_Nonsense_Mutation_p.R329*|ASXL2_ENST00000404843.1_Nonsense_Mutation_p.R97*|ASXL2_ENST00000272341.4_Nonsense_Mutation_p.R97* Q76L83 ASXL2_HUMAN additional sex combs like 2 (Drosophila) 357 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|protein binding p.R97*(1)|p.R357*(1) NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3) 33 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) ATCTCTTGTCGAATTCTCACC 0.358000 45 53 0 0 1 0 0 MYBBP1A 10514 broad.mit.edu 37 17 4451500 4451500 + Missense_Mutation SNP A A C TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr17:4451500A>C ENST00000254718.4 - 12 1968 c.1662T>G c.(1660-1662)aaT>aaG p.N554K MYBBP1A_ENST00000381556.2_Missense_Mutation_p.N554K Q9BQG0 MBB1A_HUMAN MYB binding protein (P160) 1a 554 Interaction with MYB (By similarity). nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|NLS-dependent protein nuclear import complex|nucleolus DNA binding|DNA-directed DNA polymerase activity|transcription factor binding breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1) 24 TGTGGCTGTGATTCAACAGGA 0.652000 23 59 0 0 1 0 0 C2orf16 84226 broad.mit.edu 37 2 27803714 27803714 + Silent SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr2:27803714G>A ENST00000408964.2 + 1 4326 c.4275G>A c.(4273-4275)gaG>gaA p.E1425E NM_032266.3 NP_115642.3 Q68DN1 CB016_HUMAN chromosome 2 open reading frame 16 1425 breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1) 47 Acute lymphoblastic leukemia(172;0.155) TTAAGCAGGAGGACATATTGT 0.502000 46 45 0 0 1 0 0 TST 7263 broad.mit.edu 37 22 37407346 37407346 + Missense_Mutation SNP G G A rs61742280 byFrequency TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr22:37407346G>A ENST00000403892.3 - 2 1350 c.616C>T c.(616-618)Cgt>Tgt p.R206C TST_ENST00000249042.3_Missense_Mutation_p.R206C NM_001270483.1 NP_001257412.1 Q16762 THTR_HUMAN thiosulfate sulfurtransferase (rhodanese) 206 Rhodanese 2. cyanate catabolic process|rRNA transport mitochondrial matrix|plasma membrane 5S rRNA binding|thiosulfate sulfurtransferase activity kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1) 7 ACGGCACCACGGATATGGCCC 0.572000 12 43 0 0 1 0 0 RTN2 6253 broad.mit.edu 37 19 45992717 45992717 + Silent SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr19:45992717G>A ENST00000590526.1 - 6 1432 c.306C>T c.(304-306)atC>atT p.I102I PPM1N_ENST00000401705.1_Intron|RTN2_ENST00000245923.4_Silent_p.I376I|RTN2_ENST00000344680.4_Silent_p.I303I|RTN2_ENST00000430715.2_Silent_p.I36I O75298 RTN2_HUMAN reticulon 2 376 integral to endoplasmic reticulum membrane signal transducer activity cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1) 20 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246) CCACGGACACGATGCTAAAGT 0.622000 7 5 0 0 1 0 0 ARMC4 55130 broad.mit.edu 37 10 28260241 28260241 + Splice_Site SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr10:28260241C>T ENST00000305242.5 - 8 1030 c.936_splice c.e8-1 p.G313_splice ARMC4_ENST00000480504.1_5'UTR|ARMC4_ENST00000545014.1_Intron|ARMC4_ENST00000239715.3_Splice_Site_p.G170_splice|ARMC4_ENST00000537576.1_Splice_Site_p.G5_splice NM_018076.2 NP_060546.2 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 313 binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3) 75 GAAGCTAATTCCCTTTATTTA 0.393000 7 19 0 0 1 0 0 ERCC3 2071 broad.mit.edu 37 2 128046242 128046242 + Missense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr2:128046242G>A ENST00000493187.2 - 7 1292 c.829C>T c.(829-831)Ccc>Tcc p.P277S ERCC3_ENST00000285398.2_Missense_Mutation_p.P341S P19447 ERCC3_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 3 341 cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction holo TFIIH complex 3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 31 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.073) TTACCGCAGGGAAGAACAATG 0.527000 """Mis, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 184 464 0 0 1 0 0 NTRK2 4915 broad.mit.edu 37 9 87549127 87549127 + Missense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr9:87549127G>A ENST00000376214.1 + 17 2622 c.1684G>A c.(1684-1686)Gaa>Aaa p.E562K NTRK2_ENST00000277120.3_Missense_Mutation_p.E562K|NTRK2_ENST00000376213.1_Missense_Mutation_p.E546K|NTRK2_ENST00000323115.4_Missense_Mutation_p.E546K NM_006180.3 NP_006171.2 Q16620 NTRK2_HUMAN neurotrophic tyrosine kinase, receptor, type 2 546 Protein kinase. activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development integral to plasma membrane ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2) 46 GGAGCTAGGCGAAGGAGCCTT 0.438000 TSP Lung(25;0.17) 15 22 0 0 1 0 0 OR10A3 26496 broad.mit.edu 37 11 7960717 7960717 + Silent SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr11:7960717C>T ENST00000360759.3 - 1 424 c.351G>A c.(349-351)gcG>gcA p.A117A NM_001003745.1 NP_001003745.1 P58181 O10A3_HUMAN olfactory receptor, family 10, subfamily A, member 3 117 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2) 21 Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) CATAAGCCATCGCTCCCAGGA 0.398000 31 87 0 0 1 0 0 LRP1B 53353 broad.mit.edu 37 2 141032134 141032134 + Missense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr2:141032134G>A ENST00000389484.3 - 85 13972 c.13001C>T c.(13000-13002)tCa>tTa p.S4334L NM_018557.2 NP_061027.2 Q9NZR2 LRP1B_HUMAN low density lipoprotein receptor-related protein 1B 4334 EGF-like 13. protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5) 606 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) AATGGTACATGATTCAGAATT 0.403000 TSP Lung(27;0.18) 11 35 0 0 1 0 0 SLC34A2 10568 broad.mit.edu 37 4 25678074 25678074 + Silent SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr4:25678074C>T ENST00000382051.3 + 13 1826 c.1776C>T c.(1774-1776)ttC>ttT p.F592F SLC34A2_ENST00000504570.1_Silent_p.F591F|SLC34A2_ENST00000503434.1_Silent_p.F591F NM_001177998.1|NM_006424.2 NP_001171469.1|NP_006415.2 O95436 NPT2B_HUMAN solute carrier family 34 (type II sodium/phosphate contransporter), member 2 592 Missing (in Ref. 6; BAC11354). cellular phosphate ion homeostasis apical plasma membrane|brush border membrane|integral to plasma membrane phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity SLC34A2/ROS1(14) breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4) 41 Breast(46;0.0503) ACTGGAACTTCCTGCCGCTGT 0.622000 T ROS1 NSCLC 55 110 0 0 1 0 0 PLXNA4 91584 broad.mit.edu 37 7 132192424 132192424 + Silent SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr7:132192424C>T ENST00000359827.3 - 2 1991 c.1029G>A c.(1027-1029)caG>caA p.Q343Q PLXNA4_ENST00000423507.2_Silent_p.Q343Q|PLXNA4_ENST00000378539.5_Silent_p.Q343Q|PLXNA4_ENST00000321063.4_Silent_p.Q343Q Q9HCM2 PLXA4_HUMAN plexin A4 343 Sema. integral to membrane|intracellular|plasma membrane NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1) 45 TTTTCCGCTTCTGGCCCTTGG 0.557000 27 51 0 0 1 0 0 CCDC36 339834 broad.mit.edu 37 3 49293770 49293770 + Silent SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr3:49293770C>T ENST00000438782.1 + 8 1076 c.840C>T c.(838-840)agC>agT p.S280S CCDC36_ENST00000452691.2_Silent_p.S280S|CCDC36_ENST00000296449.5_Silent_p.S280S Q8IYA8 CCD36_HUMAN coiled-coil domain containing 36 280 endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|ovary(1)|urinary_tract(3) 14 BRCA - Breast invasive adenocarcinoma(193;9.11e-05)|Kidney(197;0.00248)|KIRC - Kidney renal clear cell carcinoma(197;0.00262) TGGCCCAGAGCCTCAATCTCA 0.542000 12 45 0 0 1 0 0 TEP1 7011 broad.mit.edu 37 14 20845562 20845562 + Missense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr14:20845562C>T ENST00000262715.5 - 41 6005 c.5965G>A c.(5965-5967)Gat>Aat p.D1989N TEP1_ENST00000545983.1_Missense_Mutation_p.D327N|TEP1_ENST00000556935.1_Missense_Mutation_p.D1881N NM_007110.4 NP_009041.2 Q99973 TEP1_HUMAN telomerase-associated protein 1 1989 telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 96 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) AAGGACCCATCTTCTGCACCA 0.597000 22 42 0 0 1 0 0 MAST4 375449 broad.mit.edu 37 5 66437954 66437954 + Missense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr5:66437954G>A ENST00000404260.3 + 20 2823 c.2515G>A c.(2515-2517)Gaa>Aaa p.E839K MAST4_ENST00000403666.1_Missense_Mutation_p.E647K|MAST4_ENST00000405643.1_Missense_Mutation_p.E657K|MAST4_ENST00000261569.7_Missense_Mutation_p.E642K|MAST4_ENST00000403625.2_Missense_Mutation_p.E836K O15021 MAST4_HUMAN microtubule associated serine/threonine kinase family member 4 839 Protein kinase. cytoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2) 13 Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245) Lung(70;0.011) TGGTGCATATGAAGTCAAACA 0.428000 33 88 0 0 1 0 0 DHODH 1723 broad.mit.edu 37 16 72055148 72055148 + Missense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr16:72055148C>T ENST00000572887.1 + 5 820 c.643C>T c.(643-645)Ccc>Tcc p.P215S DHODH_ENST00000573922.1_Intron|DHODH_ENST00000219240.4_Missense_Mutation_p.P215S Q02127 PYRD_HUMAN dihydroorotate dehydrogenase (quinone) 215 Substrate binding. 'de novo' pyrimidine base biosynthetic process|pyrimidine nucleoside biosynthetic process|UMP biosynthetic process integral to membrane|mitochondrial inner membrane dihydroorotate oxidase activity breast(1)|endometrium(2)|large_intestine(4)|ovary(1)|skin(1)|stomach(1) 10 Ovarian(137;0.125) Atovaquone(DB01117)|Leflunomide(DB01097) TGTGTCCAGCCCCAACACTGC 0.677000 8 14 0 0 1 0 0 KCND3 3752 broad.mit.edu 37 1 112525211 112525211 + Silent SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr1:112525211C>T ENST00000369697.1 - 1 207 c.138G>A c.(136-138)gtG>gtA p.V46V KCND3_ENST00000315987.2_Silent_p.V46V|KCND3_ENST00000302127.4_Silent_p.V46V Q9UK17 KCND3_HUMAN potassium voltage-gated channel, Shal-related subfamily, member 3 46 sarcolemma|voltage-gated potassium channel complex A-type (transient outward) potassium channel activity|metal ion binding NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 49 all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05) all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231) TCCGCCCACTCACGTTGAGGA 0.652000 22 14 0 0 1 0 0 FAM184A 79632 broad.mit.edu 37 6 119345489 119345489 + Missense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr6:119345489C>T ENST00000338891.7 - 2 1092 c.649G>A c.(649-651)Gaa>Aaa p.E217K RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000368475.4_Missense_Mutation_p.E97K|FAM184A_ENST00000522284.1_Missense_Mutation_p.E97K|FAM184A_ENST00000521531.1_Missense_Mutation_p.E217K|FAM184A_ENST00000352896.5_Missense_Mutation_p.E97K NM_024581.4 NP_078857.5 Q8NB25 F184A_HUMAN family with sequence similarity 184, member A 217 breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5) 52 TCTGCCTTTTCCTGGCCTTTA 0.453000 10 41 0 0 1 0 0 DCX 1641 broad.mit.edu 37 X 110654120 110654120 + Missense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chrX:110654120G>A ENST00000338081.3 - 1 254 c.83C>T c.(82-84)tCc>tTc p.S28F DCX_ENST00000371993.2_Intron|DCX_ENST00000356915.2_Intron|DCX_ENST00000356220.3_Intron|DCX_ENST00000496551.1_Intron|DCX_ENST00000488120.1_Intron NM_000555.3 NP_000546.2 O43602 DCX_HUMAN doublecortin 28 axon guidance|central nervous system development|intracellular signal transduction cytosol|microtubule associated complex microtubule binding breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1) 41 AGAACAGAAGGAGCTACCCAA 0.418000 76 149 0 0 1 0 0 TPCN1 53373 broad.mit.edu 37 12 113717996 113717996 + Silent SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr12:113717996C>T ENST00000550785.1 + 16 1723 c.1554C>T c.(1552-1554)ttC>ttT p.F518F TPCN1_ENST00000335509.6_Silent_p.F446F|TPCN1_ENST00000541517.1_Silent_p.F518F|TPCN1_ENST00000392569.4_Silent_p.F378F NM_001143819.1 NP_001137291.1 Q9ULQ1 TPC1_HUMAN two pore segment channel 1 446 endosome membrane|integral to membrane|lysosomal membrane NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity p.F446F(1) cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1) 40 TCCAGTATTTCATGTGTAAGT 0.423000 9 19 0 0 1 0 0 TAS2R9 50835 broad.mit.edu 37 12 10961759 10961759 + Missense_Mutation SNP T T C TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr12:10961759T>C ENST00000240691.2 - 1 1008 c.916A>G c.(916-918)Aga>Gga p.R306G NM_023917.2 NP_076406.1 Q9NYW1 TA2R9_HUMAN taste receptor, type 2, member 9 306 sensory perception of taste integral to membrane taste receptor activity endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 GGCTTTCTTCTTCTAAGGAAA 0.373000 21 47 0 0 1 0 0 BTNL8 79908 broad.mit.edu 37 5 180338611 180338611 + Missense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr5:180338611G>A ENST00000231229.4 + 3 904 c.670G>A c.(670-672)Gga>Aga p.G224R BTNL8_ENST00000533815.2_Missense_Mutation_p.G40R|BTNL8_ENST00000511704.1_Missense_Mutation_p.G108R|BTNL8_ENST00000508408.1_Missense_Mutation_p.G224R|BTNL8_ENST00000505126.1_Missense_Mutation_p.G17R|BTNL8_ENST00000400707.3_Missense_Mutation_p.G99R|BTNL8_ENST00000340184.4_Missense_Mutation_p.G224R NM_001159708.1|NM_024850.2 NP_001153180.1|NP_079126.1 Q6UX41 BTNL8_HUMAN butyrophilin-like 8 224 integral to membrane breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 28 all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114) all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GGTACAGATAGGAGGTGAGTA 0.547000 26 44 0 0 1 0 0 COL4A3 1285 broad.mit.edu 37 2 228155544 228155544 + Missense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr2:228155544G>A ENST00000396578.3 + 37 3314 c.3152G>A c.(3151-3153)gGa>gAa p.G1051E AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000396588.2_RNA NM_000091.4 NP_000082.2 Q01955 CO4A3_HUMAN collagen, type IV, alpha 3 (Goodpasture antigen) 1051 Triple-helical region. activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound collagen type IV extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247) Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187) GGTCTCCAGGGAGATAAGGGA 0.493000 10 19 0 0 1 0 0 SLC41A2 84102 broad.mit.edu 37 12 105238262 105238262 + Silent SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr12:105238262G>A ENST00000258538.3 - 9 1651 c.1524C>T c.(1522-1524)ggC>ggT p.G508G NM_032148.3 NP_115524.3 Q96JW4 S41A2_HUMAN solute carrier family 41 (magnesium transporter), member 2 508 integral to membrane|plasma membrane magnesium ion transmembrane transporter activity breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1) 22 GTAACACAGCGCCAAATAAAT 0.313000 12 62 0 0 1 0 0 ZNF630 57232 broad.mit.edu 37 X 47918590 47918590 + Missense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chrX:47918590C>T ENST00000276054.4 - 5 1803 c.869G>A c.(868-870)cGg>cAg p.R290Q ZNF630_ENST00000442455.3_Missense_Mutation_p.R400Q|ZNF630-AS1_ENST00000436124.1_RNA|ZNF630_ENST00000409324.3_Missense_Mutation_p.R414Q Q2M218 ZN630_HUMAN zinc finger protein 630 414 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(6)|lung(11)|ovary(1) 19 CTGTGTTTTCCGAGGGAAGGT 0.443000 15 18 0 0 1 0 0 FNDC8 54752 broad.mit.edu 37 17 33454248 33454248 + Missense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr17:33454248G>A ENST00000158009.5 + 2 512 c.397G>A c.(397-399)Gag>Aag p.E133K NM_017559.2 NP_060029.1 Q8TC99 FNDC8_HUMAN fibronectin type III domain containing 8 133 breast(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1) 11 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.022) TGCAGAAAATGAGGACCTGGC 0.582000 59 141 0 0 1 0 0 CCDC93 54520 broad.mit.edu 37 2 118715984 118715984 + Missense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr2:118715984G>A ENST00000376300.2 - 12 1099 c.962C>T c.(961-963)tCc>tTc p.S321F CCDC93_ENST00000319432.5_Missense_Mutation_p.S320F|CCDC93_ENST00000460781.1_5'UTR NM_019044.4 NP_061917.3 Q567U6 CCD93_HUMAN coiled-coil domain containing 93 321 breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2) 29 TTTGTTCAAGGAAATGACTTT 0.408000 10 44 0 0 1 0 0 CLASP1 23332 broad.mit.edu 37 2 122227480 122227480 + Missense_Mutation SNP A A T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr2:122227480A>T ENST00000263710.4 - 9 1158 c.769T>A c.(769-771)Tct>Act p.S257T CLASP1_ENST00000541859.1_Missense_Mutation_p.S26T|CLASP1_ENST00000541377.1_Missense_Mutation_p.S257T|CLASP1_ENST00000545861.1_Missense_Mutation_p.S25T|CLASP1_ENST00000397587.3_Missense_Mutation_p.S257T|CLASP1_ENST00000430234.1_5'UTR|CLASP1_ENST00000455322.2_Missense_Mutation_p.S257T|CLASP1_ENST00000409078.3_Missense_Mutation_p.S257T NM_015282.2 NP_056097.1 Q7Z460 CLAP1_HUMAN cytoplasmic linker associated protein 1 257 axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule kinetochore binding|microtubule plus-end binding NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1) 47 Renal(3;0.0496) GATGATGTAGAACTAGCAGAG 0.438000 29 58 0 0 1 0 0 FAM83C 128876 broad.mit.edu 37 20 33874775 33874775 + Missense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr20:33874775C>T ENST00000374408.3 - 4 1903 c.1807G>A c.(1807-1809)Gcc>Acc p.A603T NM_178468.5 NP_848563.1 Q9BQN1 FA83C_HUMAN family with sequence similarity 83, member C 603 central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(18;0.00252) GAACCCTGGGCCTTGGGGTAC 0.632000 26 58 0 0 1 0 0 GINS4 84296 broad.mit.edu 37 8 41399552 41399552 + Silent SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr8:41399552C>T ENST00000276533.3 + 8 828 c.618C>T c.(616-618)atC>atT p.I206I GINS4_ENST00000523277.2_3'UTR|RP11-360L9.4_ENST00000523081.1_RNA|GINS4_ENST00000518671.1_Silent_p.I206I|RP11-360L9.7_ENST00000524133.1_RNA NM_032336.2 NP_115712.1 Q9BRT9 SLD5_HUMAN GINS complex subunit 4 (Sld5 homolog) 206 Important for GINS complex assembly. DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle cytoplasm|nucleoplasm breast(1)|lung(2)|skin(1) 4 Ovarian(28;0.014)|Colorectal(14;0.0202)|Lung SC(25;0.211) all_lung(54;0.00732)|Lung NSC(58;0.0207)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844) Colorectal(10;0.0014)|OV - Ovarian serous cystadenocarcinoma(14;0.00329)|LUSC - Lung squamous cell carcinoma(45;0.0137)|COAD - Colon adenocarcinoma(11;0.0147) AGCACTTGATCCGATACAAAA 0.512000 27 74 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1272041 1272041 + Missense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr11:1272041G>A ENST00000447027.1 + 31 13998 c.13940G>A c.(13939-13941)gGg>gAg p.G4647E MUC5B_ENST00000529681.1_Missense_Mutation_p.G4644E Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 4644 23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich. cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) tccatcccggggaccacccac 0.622000 12 43 0 0 1 0 0 SYCP2L 221711 broad.mit.edu 37 6 10931711 10931711 + Missense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr6:10931711G>A ENST00000283141.6 + 20 1968 c.1672G>A c.(1672-1674)Gag>Aag p.E558K NM_001040274.2 NP_001035364.2 Q5T4T6 SYC2L_HUMAN synaptonemal complex protein 2-like 558 nucleus breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 36 Breast(50;0.0838)|Ovarian(93;0.107) all_hematologic(90;0.135) Epithelial(50;0.239) CAGTGGCCATGAGAAAGACCA 0.363000 21 58 0 0 1 0 0 ARAP3 64411 broad.mit.edu 37 5 141039041 141039041 + Silent SNP G G A rs146842496 TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr5:141039041G>A ENST00000239440.4 - 23 3335 c.3270C>T c.(3268-3270)atC>atT p.I1090I ARAP3_ENST00000513878.1_Silent_p.I752I|ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000508305.1_Silent_p.I921I NM_022481.5 NP_071926.4 Q8WWN8 ARAP3_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 1090 cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1) 53 GGTCAGAATCGATCTGTGAAA 0.532000 14 24 0 0 1 0 0 DPCR1 135656 broad.mit.edu 37 6 30920134 30920134 + Missense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr6:30920134C>T ENST00000462446.1 + 2 3921 c.3893C>T c.(3892-3894)cCa>cTa p.P1298L DPCR1_ENST00000304311.2_Missense_Mutation_p.P140L|HCG21_ENST00000419481.1_RNA Q3MIW9 DPCR1_HUMAN diffuse panbronchiolitis critical region 1 422 integral to membrane endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1) 10 GAGAGCCATCCATACCTCAAT 0.473000 22 59 0 0 1 0 0 PAPLN 89932 broad.mit.edu 37 14 73718532 73718532 + Silent SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr14:73718532C>T ENST00000427855.1 + 9 933 c.831C>T c.(829-831)ccC>ccT p.P277P PAPLN_ENST00000555445.1_Silent_p.P277P|PAPLN_ENST00000381166.3_Silent_p.P277P|PAPLN_ENST00000554301.1_Silent_p.P277P|PAPLN_ENST00000340738.5_Silent_p.P250P O95428 PPN_HUMAN papilin, proteoglycan-like sulfated glycoprotein 277 proteinaceous extracellular matrix metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3) 42 BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468) CCTCGGAGCCCCTGGTCATCG 0.682000 10 27 0 0 1 0 0 TRPC7 57113 broad.mit.edu 37 5 135692374 135692374 + Silent SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr5:135692374G>A ENST00000513104.1 - 2 984 c.702C>T c.(700-702)tcC>tcT p.S234S TRPC7_ENST00000426057.2_Silent_p.S234S|TRPC7_ENST00000355180.3_Silent_p.S234S NM_020389.2 NP_065122.1 Q9HCX4 TRPC7_HUMAN transient receptor potential cation channel, subfamily C, member 7 234 axon guidance|platelet activation integral to membrane|plasma membrane calcium channel activity|protein binding NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3) 46 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GGTCTTCGCTGGACAGGGACA 0.552000 10 30 0 0 1 0 0 OSBP2 23762 broad.mit.edu 37 22 31285540 31285540 + Missense_Mutation SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr22:31285540C>T ENST00000332585.6 + 7 1644 c.1540C>T c.(1540-1542)Ccc>Tcc p.P514S OSBP2_ENST00000446658.2_Missense_Mutation_p.P513S|OSBP2_ENST00000403222.3_Missense_Mutation_p.P348S|OSBP2_ENST00000382310.3_Intron|OSBP2_ENST00000437268.2_Missense_Mutation_p.P256S|OSBP2_ENST00000407373.1_Missense_Mutation_p.P341S|OSBP2_ENST00000401475.1_Missense_Mutation_p.P147S|OSBP2_ENST00000535268.1_Missense_Mutation_p.P58S NM_030758.3 NP_110385.1 Q969R2 OSBP2_HUMAN oxysterol binding protein 2 514 lipid transport membrane lipid binding breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1) 19 AGTCCGCATTCCCAACAAGCC 0.597000 54 158 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76503719 76503719 + Silent SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr17:76503719G>A ENST00000389840.5 - 28 4517 c.4393C>T c.(4393-4395)Ctg>Ttg p.L1465L DNAH17_ENST00000585328.1_Silent_p.L1466L dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) ACCTCCTTCAGGAAGTGGGCC 0.587000 16 27 0 0 1 0 0 CELSR1 9620 broad.mit.edu 37 22 46859772 46859772 + Missense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr22:46859772G>A ENST00000262738.3 - 2 4014 c.4015C>T c.(4015-4017)Cgg>Tgg p.R1339W CELSR1_ENST00000395964.1_Missense_Mutation_p.R1339W NM_014246.1 NP_055061.1 Q9NYQ6 CELR1_HUMAN cadherin, EGF LAG seven-pass G-type receptor 1 1339 EGF-like 1; calcium-binding. central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway integral to plasma membrane calcium ion binding|G-protein coupled receptor activity|protein dimerization activity breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3) 95 Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766) UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171) TGGATGGGCCGGAAGAGCACG 0.662000 8 17 0 0 1 0 0 RET 5979 broad.mit.edu 37 10 43610140 43610140 + Missense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr10:43610140G>A ENST00000355710.3 + 11 2324 c.2092G>A c.(2092-2094)Gac>Aac p.D698N RET_ENST00000340058.5_Missense_Mutation_p.D698N NM_020975.4 NP_066124.1 P07949 RET_HUMAN ret proto-oncogene 698 homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development integral to membrane ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity CCDC6/RET(4)|KIF5B/RET(79) NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1) 607 Ovarian(717;0.0423) Sunitinib(DB01268) GCCCTCGCTGGACTCCATGGA 0.667000 1 """T, Mis, N, F""" """H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6""" """medullary thyroid, papillary thyroid, pheochromocytoma, NSCLC""" """medullary thyroid, papillary thyroid, pheochromocytoma""" Hirschsprung disease Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma 6 14 0 0 1 0 0 C6orf165 154313 broad.mit.edu 37 6 88173915 88173915 + Missense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr6:88173915G>A ENST00000507897.1 + 13 1899 c.1816G>A c.(1816-1818)Gaa>Aaa p.E606K C6ORF165_ENST00000369562.4_Missense_Mutation_p.E606K|C6orf165_ENST00000506888.1_3'UTR Q8IYR0 CF165_HUMAN chromosome 6 open reading frame 165 606 NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0419) AGGAAAGAGCGAAATCACCGA 0.458000 13 37 0 0 1 0 0 CNGA4 1262 broad.mit.edu 37 11 6263042 6263042 + Silent SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr11:6263042G>A ENST00000533426.1 + 5 757 c.606G>A c.(604-606)aaG>aaA p.K202K CNGA4_ENST00000379936.2_Intron Q8IV77 CNGA4_HUMAN cyclic nucleotide gated channel alpha 4 560 response to stimulus|sensory perception of smell cAMP binding endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1) 40 Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029) Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135) CCAGGGACAAGGATGGGTGGG 0.527000 29 40 0 0 1 0 0 TPTE2P6 374491 broad.mit.edu 37 13 25161397 25161397 + RNA SNP C C G rs3874227 by1000genomes TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr13:25161397C>G ENST00000453498.1 + 0 921 TGAAACATCTCTACAACTGGA 0.343000 3 34 0 0 1 0 0 ALLC 55821 broad.mit.edu 37 2 3729240 3729240 + Silent SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr2:3729240C>T ENST00000252505.3 + 6 477 c.315C>T c.(313-315)atC>atT p.I105I NM_018436.3 NP_060906.3 Q8N6M5 ALLC_HUMAN allantoicase 124 allantoicase activity breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 30 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088) all_cancers(51;0.24) OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206) TACCAGAAATCCCAGAAAGAG 0.438000 HNSCC(21;0.051) 11 7 0 0 1 0 0 CFTR 1080 broad.mit.edu 37 7 117199595 117199595 + Silent SNP C C T TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr7:117199595C>T ENST00000003084.6 + 11 1602 c.1470C>T c.(1468-1470)ttC>ttT p.F490F CFTR_ENST00000454343.1_Silent_p.F429F NM_000492.3 NP_000483.3 P13569 CFTR_HUMAN cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 490 ABC transporter 1. respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9) 69 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) GAATTTCATTCTGTTCTCAGT 0.368000 Cystic Fibrosis 21 74 0 0 1 0 0 ISM2 145501 broad.mit.edu 37 14 77950883 77950883 + Missense_Mutation SNP G G A rs138409143 byFrequency TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr14:77950883G>A ENST00000393684.3 - 4 537 c.146C>T c.(145-147)cCt>cTt p.P49L ISM2_ENST00000342219.4_Missense_Mutation_p.P137L|ISM2_ENST00000493585.1_Missense_Mutation_p.P137L|ISM2_ENST00000412904.1_Intron|ISM2_ENST00000429906.1_Missense_Mutation_p.P56L Q6H9L7 ISM2_HUMAN isthmin 2 137 extracellular region endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1) 21 TTCCCTCAGAGGCCTAGGATC 0.602000 16 32 0 0 1 0 0 BRE 9577 broad.mit.edu 37 2 28521300 28521301 + Frame_Shift_Ins INS - - A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr2:28521300_28521301insA ENST00000344773.2 + 11 1168_1169 c.1030_1031insA c.(1030-1032)aaafs p.K344fs BRE_ENST00000342045.2_Frame_Shift_Ins_p.K344fs|BRE_ENST00000379632.2_Frame_Shift_Ins_p.K344fs|BRE_ENST00000361704.2_Frame_Shift_Ins_p.K344fs|BRE_ENST00000379624.1_Frame_Shift_Ins_p.K344fs NM_004899.4 NP_004890.2 Q9NXR7 BRE_HUMAN brain and reproductive organ-expressed (TNFRSF1A modulator) 344 UEV-like 2. apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2) 23 Acute lymphoblastic leukemia(172;0.155) CTCCCAGGCCCAAAAAAATTAT 0.446 33 54 --- --- --- --- STX5 6811 broad.mit.edu 37 11 62598585 62598585 + Frame_Shift_Del DEL G G - TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr11:62598585delG ENST00000294179.3 - 2 284 c.131delC c.(130-132)cafs p.P44fs STX5_ENST00000394690.1_Intron|STX5_ENST00000541317.1_Intron|STX5_ENST00000377897.4_Frame_Shift_Del_p.P44fs NM_001244666.1|NM_003164.4 NP_001231595.1|NP_003155.2 Q13190 STX5_HUMAN syntaxin 5 44 intracellular protein transport|retrograde transport, endosome to Golgi|vesicle targeting ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|nucleus|SNARE complex protein N-terminus binding|SNAP receptor activity p.V45fs*38(1) breast(2)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 18 GAGGGTCACTGGGGGGGGCAG 0.632 2 4 --- --- --- --- RP11-536C10.4 0 broad.mit.edu 37 14 19340354 19340354 + RNA DEL A A - TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr14:19340354delA ENST00000552261.1 - 0 52 TTCGGCATTTACGGACTTTTA 0.294 2 4 --- --- --- --- RP11-1166P10.6 0 broad.mit.edu 37 16 32095553 32095553 + RNA DEL G G - TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4d09bfba-5cac-44ee-a834-e23601d91b86 dc2822ca-bd08-42ae-8a3f-5deb05fdefa9 g.chr16:32095553delG ENST00000566806.1 - 0 499 CTGGGGCCCCGAGGGAGATGT 0.642 3 5 --- --- --- ---