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 ADAMTS9 56999 broad.mit.edu 37 3 64619195 64619195 + Missense_Mutation SNP G G A TCGA-EE-A2ME-06A-11D-A197-08 TCGA-EE-A2ME-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b768bb3-0f40-4421-b3b6-9b38680ccfbc b757fe4a-ff9a-4332-b5d9-70d1e711478b g.chr3:64619195G>A ENST00000498707.1 - 14 2470 c.2128C>T c.(2128-2130)Cct>Tct p.P710S ADAMTS9_ENST00000295903.4_Missense_Mutation_p.P682S NM_182920.1 NP_891550.1 Q9P2N4 ATS9_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 9 710 Cys-rich. 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) TGGCCACAAGGAGTTCCATCT 0.507000 18 353 0 0 0.000175454 0 0 KIAA1217 56243 broad.mit.edu 37 10 24813315 24813315 + Missense_Mutation SNP G G A TCGA-EE-A2ME-06A-11D-A197-08 TCGA-EE-A2ME-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b768bb3-0f40-4421-b3b6-9b38680ccfbc b757fe4a-ff9a-4332-b5d9-70d1e711478b g.chr10:24813315G>A ENST00000376451.2 + 8 1829 c.1569G>A c.(1567-1569)atG>atA p.M523I KIAA1217_ENST00000376454.3_Missense_Mutation_p.M840I|KIAA1217_ENST00000430453.2_Intron|KIAA1217_ENST00000376462.1_Missense_Mutation_p.M760I|KIAA1217_ENST00000458595.1_Missense_Mutation_p.M805I|KIAA1217_ENST00000307544.6_Missense_Mutation_p.M523I|KIAA1217_ENST00000376452.3_Missense_Mutation_p.M805I|KIAA1217_ENST00000396446.1_Missense_Mutation_p.M523I|KIAA1217_ENST00000396445.1_Missense_Mutation_p.M523I Q5T5P2 SKT_HUMAN KIAA1217 840 embryonic skeletal system development cytoplasm breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1) 70 ACATGGCTATGGAAAAGGCCA 0.597000 5 71 0 0 3.59834e-05 0 0 TRAF5 7188 broad.mit.edu 37 1 211529807 211529807 + Silent SNP C C T TCGA-EE-A2ME-06A-11D-A197-08 TCGA-EE-A2ME-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b768bb3-0f40-4421-b3b6-9b38680ccfbc b757fe4a-ff9a-4332-b5d9-70d1e711478b g.chr1:211529807C>T ENST00000261464.5 + 4 429 c.375C>T c.(373-375)taC>taT p.Y125Y TRAF5_ENST00000462410.1_3'UTR|TRAF5_ENST00000367004.3_Silent_p.Y125Y|TRAF5_ENST00000427925.2_Silent_p.Y125Y|TRAF5_ENST00000336184.2_Silent_p.Y125Y NM_001033910.2 NP_001029082.1 O00463 TRAF5_HUMAN TNF receptor-associated factor 5 125 apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis CD40 receptor complex|centrosome|internal side of plasma membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144) TGGGCCGGTACCAGGTTGGTA 0.403000 6 73 0 0 3.59834e-05 0 0 RP1L1 94137 broad.mit.edu 37 8 10469909 10469909 + Missense_Mutation SNP C C T TCGA-EE-A2ME-06A-11D-A197-08 TCGA-EE-A2ME-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b768bb3-0f40-4421-b3b6-9b38680ccfbc b757fe4a-ff9a-4332-b5d9-70d1e711478b g.chr8:10469909C>T ENST00000382483.3 - 4 1922 c.1699G>A c.(1699-1701)Gag>Aag p.E567K NM_178857.5 NP_849188.4 A6NKC6 A6NKC6_HUMAN retinitis pigmentosa 1-like 1 567 intracellular signal transduction breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3) 148 COAD - Colon adenocarcinoma(149;0.0811) TCGCTGGCCTCCTGCTGAGAG 0.652000 7 104 0 0 0.000157383 0 0 AP3B1 8546 broad.mit.edu 37 5 77409636 77409636 + Missense_Mutation SNP C C G TCGA-EE-A2ME-06A-11D-A197-08 TCGA-EE-A2ME-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b768bb3-0f40-4421-b3b6-9b38680ccfbc b757fe4a-ff9a-4332-b5d9-70d1e711478b g.chr5:77409636C>G ENST00000255194.6 - 19 2364 c.2189G>C c.(2188-2190)cGg>cCg p.R730P AP3B1_ENST00000519295.1_Missense_Mutation_p.R681P NM_001271769.1 NP_001258698.1 O00203 AP3B1_HUMAN adaptor-related protein complex 3, beta 1 subunit 730 Glu/Ser-rich. endocytosis|melanosome organization clathrin coated vesicle membrane|Golgi apparatus|membrane coat protein phosphatase binding|protein transporter activity breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1) 39 all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215) OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36) GCCTGACTCCCGTCCACTCTC 0.458000 Hermansky-Pudlak syndrome 4 82 0 0 3.59834e-05 0 0 ZNF99 7652 broad.mit.edu 37 19 22941513 22941513 + Missense_Mutation SNP C C T TCGA-EE-A2ME-06A-11D-A197-08 TCGA-EE-A2ME-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b768bb3-0f40-4421-b3b6-9b38680ccfbc b757fe4a-ff9a-4332-b5d9-70d1e711478b g.chr19:22941513C>T ENST00000397104.3 - 5 924 c.925G>A c.(925-927)Gaa>Aaa p.E309K ZNF99_ENST00000596209.1_Missense_Mutation_p.E400K zinc finger protein 99 NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3) 124 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) CCACATTCTTCACATTTGTAG 0.378000 5 49 0 0 3.59834e-05 0 0 MAP6 4135 broad.mit.edu 37 11 75298569 75298569 + Silent SNP C C T TCGA-EE-A2ME-06A-11D-A197-08 TCGA-EE-A2ME-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b768bb3-0f40-4421-b3b6-9b38680ccfbc b757fe4a-ff9a-4332-b5d9-70d1e711478b g.chr11:75298569C>T ENST00000304771.3 - 4 2727 c.1977G>A c.(1975-1977)aaG>aaA p.K659K MAP6_ENST00000526740.1_Silent_p.K330K|CTD-2530H12.4_ENST00000527803.1_RNA NM_033063.1 NP_149052.1 Q96JE9 MAP6_HUMAN microtubule-associated protein 6 659 Pro-rich. Golgi apparatus|microtubule|perinuclear region of cytoplasm calmodulin binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1) 19 Ovarian(111;0.11) AACCTTGATTCTTTATGGGTG 0.498000 9 105 0 0 2.17888e-05 0 0 MUC16 94025 broad.mit.edu 37 19 9066073 9066073 + Missense_Mutation SNP G G A TCGA-EE-A2ME-06A-11D-A197-08 TCGA-EE-A2ME-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b768bb3-0f40-4421-b3b6-9b38680ccfbc b757fe4a-ff9a-4332-b5d9-70d1e711478b g.chr19:9066073G>A ENST00000397910.4 - 3 21576 c.21373C>T c.(21373-21375)Cct>Tct p.P7125S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 7127 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GAAGTCACAGGAAGAGGAGAG 0.517000 5 92 0 0 3.59834e-05 0 0 CRP 1401 broad.mit.edu 37 1 159683410 159683410 + Missense_Mutation SNP G G A TCGA-EE-A2ME-06A-11D-A197-08 TCGA-EE-A2ME-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b768bb3-0f40-4421-b3b6-9b38680ccfbc b757fe4a-ff9a-4332-b5d9-70d1e711478b g.chr1:159683410G>A ENST00000255030.5 - 2 683 c.580C>T c.(580-582)Ctt>Ttt p.L194F CRP_ENST00000473196.1_5'UTR|CRP_ENST00000368110.1_Missense_Mutation_p.L72F|CRP_ENST00000368111.1_Missense_Mutation_p.L72F|CRP_ENST00000343919.2_Missense_Mutation_p.L72F|CRP_ENST00000437342.1_Missense_Mutation_p.L16F|CRP_ENST00000368112.1_Intron NM_000567.2 NP_000558.2 P02741 CRP_HUMAN C-reactive protein, pentraxin-related 194 Pentaxin. acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1) 22 all_hematologic(112;0.0429) Atorvastatin(DB01076)|Bezafibrate(DB01393) GGCCCGCCAAGATAGATGGTG 0.537000 8 97 0 0 3.86212e-05 0 0 BCAP29 55973 broad.mit.edu 37 7 107240940 107240940 + Silent SNP G G A TCGA-EE-A2ME-06A-11D-A197-08 TCGA-EE-A2ME-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b768bb3-0f40-4421-b3b6-9b38680ccfbc b757fe4a-ff9a-4332-b5d9-70d1e711478b g.chr7:107240940G>A ENST00000379119.2 + 5 593 c.579G>A c.(577-579)aaG>aaA p.K193K BCAP29_ENST00000379117.2_Silent_p.K193K|BCAP29_ENST00000494086.1_3'UTR|BCAP29_ENST00000445771.2_Silent_p.K193K|BCAP29_ENST00000005259.4_Silent_p.K193K|BCAP29_ENST00000465919.1_Silent_p.K99K|BCAP29_ENST00000379121.2_Silent_p.K99K NM_001008405.2 NP_001008405.1 Q9UHQ4 BAP29_HUMAN B-cell receptor-associated protein 29 193 apoptosis|intracellular protein transport|vesicle-mediated transport endoplasmic reticulum membrane|integral to membrane p.K193N(1) cervix(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)|urinary_tract(1) 14 AATTAAGGAAGACTTCAGATG 0.318000 5 62 0 0 1.23904e-05 0 0 COL4A5 1287 broad.mit.edu 37 X 107816837 107816837 + Missense_Mutation SNP C C T TCGA-EE-A2ME-06A-11D-A197-08 TCGA-EE-A2ME-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b768bb3-0f40-4421-b3b6-9b38680ccfbc b757fe4a-ff9a-4332-b5d9-70d1e711478b g.chrX:107816837C>T ENST00000328300.6 + 9 743 c.499C>T c.(499-501)Cca>Tca p.P167S COL4A5_ENST00000361603.2_Missense_Mutation_p.P167S NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 167 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 GTCATCACTGCCAGGACCAAA 0.368000 Alport syndrome with Diffuse Leiomyomatosis 8 80 0 0 3.86212e-05 0 0 MYH6 4624 broad.mit.edu 37 14 23855728 23855728 + Missense_Mutation SNP C C T TCGA-EE-A2ME-06A-11D-A197-08 TCGA-EE-A2ME-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b768bb3-0f40-4421-b3b6-9b38680ccfbc b757fe4a-ff9a-4332-b5d9-70d1e711478b g.chr14:23855728C>T ENST00000405093.3 - 33 4825 c.4755G>A c.(4753-4755)atG>atA p.M1585I MYH6_ENST00000356287.3_Missense_Mutation_p.M1585I NM_002471.3 NP_002462.2 P13533 MYH6_HUMAN myosin, heavy chain 6, cardiac muscle, alpha 1585 adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) TGGCCTGTTCCATCTCCTCGT 0.617000 9 119 0 0 2.17888e-05 0 0 FLG2 388698 broad.mit.edu 37 1 152326043 152326043 + Missense_Mutation SNP C C T TCGA-EE-A2ME-06A-11D-A197-08 TCGA-EE-A2ME-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b768bb3-0f40-4421-b3b6-9b38680ccfbc b757fe4a-ff9a-4332-b5d9-70d1e711478b g.chr1:152326043C>T ENST00000388718.5 - 3 4291 c.4219G>A c.(4219-4221)Gga>Aga p.G1407R FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA NM_001014342.2 NP_001014364.1 Q5D862 FILA2_HUMAN filaggrin family member 2 1407 calcium ion binding|structural molecule activity NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5) 188 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) GTGGACTGTCCATGACCAGAG 0.527000 10 157 0 0 6.40141e-05 0 0 CNTNAP2 26047 broad.mit.edu 37 7 146536832 146536832 + Missense_Mutation SNP G G A TCGA-EE-A2ME-06A-11D-A197-08 TCGA-EE-A2ME-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b768bb3-0f40-4421-b3b6-9b38680ccfbc b757fe4a-ff9a-4332-b5d9-70d1e711478b g.chr7:146536832G>A ENST00000361727.3 + 3 754 c.238G>A c.(238-240)Gac>Aac p.D80N NM_014141.5 NP_054860.1 Q9UHC6 CNTP2_HUMAN contactin associated protein-like 2 80 F5/8 type C. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3) 188 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) ATCAGACAGCGACCATTATCA 0.448000 HNSCC(39;0.1) 7 69 0 0 0.000274275 0 0 POLR3B 55703 broad.mit.edu 37 12 106838326 106838326 + Missense_Mutation SNP C C T TCGA-EE-A2ME-06A-11D-A197-08 TCGA-EE-A2ME-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b768bb3-0f40-4421-b3b6-9b38680ccfbc b757fe4a-ff9a-4332-b5d9-70d1e711478b g.chr12:106838326C>T ENST00000228347.4 + 19 2263 c.2041C>T c.(2041-2043)Ccg>Tcg p.P681S POLR3B_ENST00000539066.1_Missense_Mutation_p.P623S NM_018082.5 NP_060552.4 Q9NW08 RPC2_HUMAN polymerase (RNA) III (DNA directed) polypeptide B 681 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2) 57 TAACCAGTCACCGAGAAACAC 0.438000 7 48 0 0 8.12818e-05 0 0 LHCGR 3973 broad.mit.edu 37 2 48915179 48915179 + Missense_Mutation SNP G G A TCGA-EE-A2ME-06A-11D-A197-08 TCGA-EE-A2ME-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b768bb3-0f40-4421-b3b6-9b38680ccfbc b757fe4a-ff9a-4332-b5d9-70d1e711478b g.chr2:48915179G>A ENST00000294954.7 - 11 1778 c.1757C>T c.(1756-1758)tCt>tTt p.S586F LHCGR_ENST00000403273.1_3'UTR|LHCGR_ENST00000401907.1_3'UTR|LHCGR_ENST00000344775.3_Missense_Mutation_p.S524F|STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000405626.1_Missense_Mutation_p.S559F NM_000233.3 NP_000224.2 P22888 LSHR_HUMAN luteinizing hormone/choriogonadotropin receptor 586 male genitalia development|male gonad development endosome|integral to plasma membrane luteinizing hormone receptor activity NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 56 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032) GGCAAAAAAAGAGATAGGTGC 0.383000 5 81 0 0 1.23904e-05 0 0 BRD1 23774 broad.mit.edu 37 22 50217210 50217210 + Silent SNP G G A TCGA-EE-A2ME-06A-11D-A197-08 TCGA-EE-A2ME-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b768bb3-0f40-4421-b3b6-9b38680ccfbc b757fe4a-ff9a-4332-b5d9-70d1e711478b g.chr22:50217210G>A ENST00000216267.8 - 1 1242 c.756C>T c.(754-756)ccC>ccT p.P252P BRD1_ENST00000404034.1_Silent_p.P252P|BRD1_ENST00000404760.1_Silent_p.P252P|BRD1_ENST00000457780.2_Silent_p.P252P NM_014577.1 NP_055392.1 O95696 BRD1_HUMAN bromodomain containing 1 252 histone H3 acetylation MOZ/MORF histone acetyltransferase complex zinc ion binding endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1) 37 all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21) ACTGGCCCTCGGGGATGTAGG 0.637000 5 14 0 0 1.23904e-05 0 0 ATP1A4 480 broad.mit.edu 37 1 160156118 160156118 + Missense_Mutation SNP G G A TCGA-EE-A2ME-06A-11D-A197-08 TCGA-EE-A2ME-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b768bb3-0f40-4421-b3b6-9b38680ccfbc b757fe4a-ff9a-4332-b5d9-70d1e711478b g.chr1:160156118G>A ENST00000368081.4 + 21 3493 c.3022G>A c.(3022-3024)Gat>Aat p.D1008N ATP1A4_ENST00000470705.1_Missense_Mutation_p.D144N NM_144699.3 NP_653300.2 Q13733 AT1A4_HUMAN ATPase, Na+/K+ transporting, alpha 4 polypeptide 1008 ITWWLCAIPYSILIFVYDEIRKLLIRQ -> WSFALTAQAG VKWRILGLLQPLPPRFK (in Ref. 6; BAC05228). ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility sodium:potassium-exchanging ATPase complex ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 75 all_cancers(52;2.56e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CTTCGTCTATGATGAAATCAG 0.562000 12 161 0 0 0.00010058 0 0 TTC5 91875 broad.mit.edu 37 14 20763900 20763900 + Silent SNP G G A TCGA-EE-A2ME-06A-11D-A197-08 TCGA-EE-A2ME-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b768bb3-0f40-4421-b3b6-9b38680ccfbc b757fe4a-ff9a-4332-b5d9-70d1e711478b g.chr14:20763900G>A ENST00000258821.3 - 7 866 c.810C>T c.(808-810)ttC>ttT p.F270F NM_138376.2 NP_612385.2 Q8N0Z6 TTC5_HUMAN tetratricopeptide repeat domain 5 270 DNA repair cytoplasm|nucleus binding endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1) 15 all_cancers(95;0.00092) Epithelial(56;1.1e-06)|all cancers(55;8.07e-06) GBM - Glioblastoma multiforme(265;0.0106) ATCTATCCAGGAATTCCAGAA 0.483000 6 120 0 0 8.12818e-05 0 0 AK9 221264 broad.mit.edu 37 6 109867143 109867143 + Missense_Mutation SNP G G A TCGA-EE-A2ME-06A-11D-A197-08 TCGA-EE-A2ME-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b768bb3-0f40-4421-b3b6-9b38680ccfbc b757fe4a-ff9a-4332-b5d9-70d1e711478b g.chr6:109867143G>A ENST00000424296.2 - 26 3228 c.3152C>T c.(3151-3153)gCt>gTt p.A1051V AK9_ENST00000341338.6_Missense_Mutation_p.A130V|AK9_ENST00000355283.1_Missense_Mutation_p.A130V NM_001145128.2 NP_001138600.2 adenylate kinase 9 TTGTTTGGCAGCTTGCTCGTT 0.353000 10 104 0 0 2.17888e-05 0 0 DNAJC25 548645 broad.mit.edu 37 9 114409479 114409479 + Silent SNP C C T TCGA-EE-A2ME-06A-11D-A197-08 TCGA-EE-A2ME-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b768bb3-0f40-4421-b3b6-9b38680ccfbc b757fe4a-ff9a-4332-b5d9-70d1e711478b g.chr9:114409479C>T ENST00000313525.3 + 2 485 c.429C>T c.(427-429)gcC>gcT p.A143A DNAJC25-GNG10_ENST00000374294.3_Intron|DNAJC25_ENST00000556107.1_Intron NM_001015882.2 NP_001015882.2 Q9H1X3 DJC25_HUMAN DnaJ (Hsp40) homolog, subfamily C , member 25 143 protein folding integral to membrane heat shock protein binding|unfolded protein binding kidney(1)|large_intestine(2)|lung(1)|skin(4) 8 GGCGCTTGGCCCCTAAGGTGG 0.393000 10 171 0 0 0.000151284 0 0 SLC35F3 148641 broad.mit.edu 37 1 234444858 234444858 + Missense_Mutation SNP G G A TCGA-EE-A2ME-06A-11D-A197-08 TCGA-EE-A2ME-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b768bb3-0f40-4421-b3b6-9b38680ccfbc b757fe4a-ff9a-4332-b5d9-70d1e711478b g.chr1:234444858G>A ENST00000366618.3 + 4 765 c.620G>A c.(619-621)cGa>cAa p.R207Q SLC35F3_ENST00000366617.3_Missense_Mutation_p.R138Q NM_173508.2 NP_775779.1 Q8IY50 S35F3_HUMAN solute carrier family 35, member F3 138 transport integral to membrane breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1) 32 Ovarian(103;0.0454) all_cancers(173;0.145)|Prostate(94;0.0885) OV - Ovarian serous cystadenocarcinoma(106;0.00531) GAATGCTGTCGATTTTTTGGA 0.383000 7 62 0 0 8.12818e-05 0 0 NAB2 4665 broad.mit.edu 37 12 57485290 57485290 + Missense_Mutation SNP C C G TCGA-EE-A2ME-06A-11D-A197-08 TCGA-EE-A2ME-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b768bb3-0f40-4421-b3b6-9b38680ccfbc b757fe4a-ff9a-4332-b5d9-70d1e711478b g.chr12:57485290C>G ENST00000300131.3 + 2 844 c.466C>G c.(466-468)Cgc>Ggc p.R156G NAB2_ENST00000357680.4_Missense_Mutation_p.R156G|NAB2_ENST00000342556.6_Missense_Mutation_p.R156G|NAB2_ENST00000554718.1_3'UTR NM_005967.3 NP_005958.1 Q15742 NAB2_HUMAN NGFI-A binding protein 2 (EGR1 binding protein 2) 156 cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent nucleus transcription corepressor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 20 AGGCAGTGCCCGCAGTTTTAG 0.632000 4 55 0 0 0.00024832 0 0 COL12A1 1303 broad.mit.edu 37 6 75848209 75848209 + Missense_Mutation SNP G G A TCGA-EE-A2ME-06A-11D-A197-08 TCGA-EE-A2ME-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b768bb3-0f40-4421-b3b6-9b38680ccfbc b757fe4a-ff9a-4332-b5d9-70d1e711478b g.chr6:75848209G>A ENST00000322507.8 - 29 5494 c.5185C>T c.(5185-5187)Cct>Tct p.P1729S COL12A1_ENST00000483888.2_Missense_Mutation_p.P1729S|COL12A1_ENST00000345356.6_Missense_Mutation_p.P565S|COL12A1_ENST00000416123.2_Missense_Mutation_p.P1729S NM_004370.5 NP_004361.3 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 1729 Fibronectin type-III 12. P -> A (in Ref. 1; AAC51244). 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 GACTCATCAGGATAGATGGCA 0.378000 8 43 0 0 2.17888e-05 0 0 SEL1L3 23231 broad.mit.edu 37 4 25780805 25780805 + Missense_Mutation SNP G G T TCGA-EE-A2ME-06A-11D-A197-08 TCGA-EE-A2ME-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b768bb3-0f40-4421-b3b6-9b38680ccfbc b757fe4a-ff9a-4332-b5d9-70d1e711478b g.chr4:25780805G>T ENST00000399878.3 - 16 2600 c.2478C>A c.(2476-2478)ttC>ttA p.F826L SEL1L3_ENST00000502949.1_Missense_Mutation_p.F673L|SEL1L3_ENST00000264868.5_Missense_Mutation_p.F791L NM_015187.3 NP_056002.2 Q68CR1 SE1L3_HUMAN sel-1 suppressor of lin-12-like 3 (C. elegans) 826 integral to membrane binding breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2) 14 CAGCCTTATGGAAATATTCAC 0.468000 7 123 0.000157383 0.00650046 0.000157383 1 0 EFCAB6 64800 broad.mit.edu 37 22 44067971 44067971 + Missense_Mutation SNP C C G rs145170325 TCGA-EE-A2ME-06A-11D-A197-08 TCGA-EE-A2ME-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b768bb3-0f40-4421-b3b6-9b38680ccfbc b757fe4a-ff9a-4332-b5d9-70d1e711478b g.chr22:44067971C>G ENST00000262726.7 - 15 1775 c.1522G>C c.(1522-1524)Gct>Cct p.A508P EFCAB6_ENST00000396231.2_Missense_Mutation_p.A356P NM_022785.3 NP_073622.2 Q5THR3 EFCB6_HUMAN EF-hand calcium binding domain 6 508 EF-hand 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 68 Ovarian(80;0.0247)|all_neural(38;0.025) TTATAAAAAGCTTGTAGGTTC 0.363000 8 80 0 0 0.000274275 0 0 BRD9 65980 broad.mit.edu 37 5 865656 865656 + Silent SNP C C T TCGA-EE-A2ME-06A-11D-A197-08 TCGA-EE-A2ME-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b768bb3-0f40-4421-b3b6-9b38680ccfbc b757fe4a-ff9a-4332-b5d9-70d1e711478b g.chr5:865656C>T ENST00000323510.4 - 12 1277 c.1278G>A c.(1276-1278)ttG>ttA p.L426L BRD9_ENST00000483173.1_Silent_p.L469L|BRD9_ENST00000388890.4_Silent_p.L406L|BRD9_ENST00000467963.1_Silent_p.L522L Q9H8M2 BRD9_HUMAN bromodomain containing 9 522 nucleic acid binding breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3) 29 Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185) CATCCAAGTTCAAATGGCTGT 0.622000 6 108 0 0 8.12818e-05 0 0 LEP 3952 broad.mit.edu 37 7 127894610 127894610 + Missense_Mutation SNP G G A TCGA-EE-A2ME-06A-11D-A197-08 TCGA-EE-A2ME-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b768bb3-0f40-4421-b3b6-9b38680ccfbc b757fe4a-ff9a-4332-b5d9-70d1e711478b g.chr7:127894610G>A ENST00000308868.4 + 3 349 c.298G>A c.(298-300)Gac>Aac p.D100N NM_000230.2 NP_000221.1 P41159 LEP_HUMAN leptin 100 adult feeding behavior|energy reserve metabolic process|negative regulation of appetite|placenta development|positive regulation of developmental growth extracellular space endometrium(1)|large_intestine(2)|lung(5) 8 AATATCCAACGACCTGGAGAA 0.567000 6 85 0 0 8.12818e-05 0 0 APOBEC2 10930 broad.mit.edu 37 6 41029318 41029318 + Missense_Mutation SNP G G A TCGA-EE-A2ME-06A-11D-A197-08 TCGA-EE-A2ME-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b768bb3-0f40-4421-b3b6-9b38680ccfbc b757fe4a-ff9a-4332-b5d9-70d1e711478b g.chr6:41029318G>A ENST00000244669.2 + 2 427 c.383G>A c.(382-384)tGt>tAt p.C128Y NM_006789.3 NP_006780.1 Q9Y235 ABEC2_HUMAN apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2 128 DNA demethylation|mRNA processing cytidine deaminase activity|RNA binding|zinc ion binding endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1) 10 Ovarian(28;0.0418)|Colorectal(47;0.196) TCCAGCCCCTGTGCAGCGTGT 0.577000 14 139 0 0 5.01169e-05 0 0 ADAM10 102 broad.mit.edu 37 15 58957325 58957325 + Nonsense_Mutation SNP G G A TCGA-EE-A2ME-06A-11D-A197-08 TCGA-EE-A2ME-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b768bb3-0f40-4421-b3b6-9b38680ccfbc b757fe4a-ff9a-4332-b5d9-70d1e711478b g.chr15:58957325G>A ENST00000260408.3 - 5 999 c.556C>T c.(556-558)Cag>Tag p.Q186* ADAM10_ENST00000396140.2_Intron|ADAM10_ENST00000561288.1_Intron|ADAM10_ENST00000558733.1_5'UTR|ADAM10_ENST00000402627.1_Intron NM_001110.2 NP_001101.1 O14672 ADA10_HUMAN ADAM metallopeptidase domain 10 186 cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3) 27 GBM - Glioblastoma multiforme(80;0.202) CCAGTCATCTGGTATTTCCTC 0.363000 8 163 0 0 2.17888e-05 0 0 ANKRD30BP3 338579 broad.mit.edu 37 10 45652235 45652235 + RNA SNP C C G rs149362183 TCGA-EE-A2ME-06A-11D-A197-08 TCGA-EE-A2ME-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b768bb3-0f40-4421-b3b6-9b38680ccfbc b757fe4a-ff9a-4332-b5d9-70d1e711478b g.chr10:45652235C>G ENST00000427229.2 + 0 1749 GAAGGAACATCTGAAGGAACA 0.478000 4 20 0 0 1.23904e-05 0 0 GPANK1 7918 broad.mit.edu 37 6 31630171 31630171 + Missense_Mutation SNP G G C TCGA-EE-A2ME-06A-11D-A197-08 TCGA-EE-A2ME-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b768bb3-0f40-4421-b3b6-9b38680ccfbc b757fe4a-ff9a-4332-b5d9-70d1e711478b g.chr6:31630171G>C ENST00000375906.1 - 4 1627 c.943C>G c.(943-945)Cga>Gga p.R315G GPANK1_ENST00000375896.4_Missense_Mutation_p.R315G|GPANK1_ENST00000375895.2_Missense_Mutation_p.R315G|GPANK1_ENST00000375893.2_Missense_Mutation_p.R315G|GPANK1_ENST00000375900.4_Missense_Mutation_p.R315G NM_001199237.1 NP_001186166.1 O95872 GPAN1_HUMAN G patch domain and ankyrin repeats 1 315 intracellular nucleic acid binding central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(7) 12 GCCACAGCTCGGGTATCCCAA 0.617000 7 268 0 0 0.000157383 0 0 SEL1L3 23231 broad.mit.edu 37 4 25780745 25780745 + Silent SNP G G A TCGA-EE-A2ME-06A-11D-A197-08 TCGA-EE-A2ME-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b768bb3-0f40-4421-b3b6-9b38680ccfbc b757fe4a-ff9a-4332-b5d9-70d1e711478b g.chr4:25780745G>A ENST00000399878.3 - 16 2660 c.2538C>T c.(2536-2538)atC>atT p.I846I SEL1L3_ENST00000502949.1_Silent_p.I693I|SEL1L3_ENST00000264868.5_Silent_p.I811I NM_015187.3 NP_056002.2 Q68CR1 SE1L3_HUMAN sel-1 suppressor of lin-12-like 3 (C. elegans) 846 integral to membrane binding breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2) 14 GGTTGCCTGTGATATAGTAGA 0.438000 6 103 0 0 8.12818e-05 0 0 MYOF 26509 broad.mit.edu 37 10 95097623 95097623 + Silent SNP C C T TCGA-EE-A2ME-06A-11D-A197-08 TCGA-EE-A2ME-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b768bb3-0f40-4421-b3b6-9b38680ccfbc b757fe4a-ff9a-4332-b5d9-70d1e711478b g.chr10:95097623C>T ENST00000371501.4 - 40 4508 c.4386G>A c.(4384-4386)ggG>ggA p.G1462G MYOF_ENST00000358334.5_Silent_p.G1449G|MYOF_ENST00000359263.4_Silent_p.G1462G|MYOF_ENST00000371502.4_Silent_p.G1481G Q9NZM1 MYOF_HUMAN myoferlin 1462 blood circulation|muscle contraction|plasma membrane repair caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane phospholipid binding|protein binding NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 TTTCATGTTCCCCTGAGGAAG 0.413000 5 97 0 0 1.23904e-05 0 0 RPL32 6161 broad.mit.edu 37 3 12880913 12880913 + Silent SNP G G C TCGA-EE-A2ME-06A-11D-A197-08 TCGA-EE-A2ME-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b768bb3-0f40-4421-b3b6-9b38680ccfbc b757fe4a-ff9a-4332-b5d9-70d1e711478b g.chr3:12880913G>C ENST00000429711.2 - 3 312 c.213C>G c.(211-213)ccC>ccG p.P71P RPL32_ENST00000396957.1_Silent_p.P71P|RPL32_ENST00000435983.1_Silent_p.P71P|RPL32_ENST00000273223.6_Silent_p.P89P|RPL32_ENST00000396953.2_Silent_p.P71P NM_000994.3 NP_000985.1 P62910 RL32_HUMAN ribosomal protein L32 71 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosol|ribosome protein binding|structural constituent of ribosome kidney(1)|large_intestine(2)|lung(2)|ovary(1) 6 GGAAGCCACTGGGCAGCATGT 0.493000 5 162 0 0 1.23904e-05 0 0 DCAF8L1 139425 broad.mit.edu 37 X 27999214 27999214 + Missense_Mutation SNP C C T TCGA-EE-A2ME-06A-11D-A197-08 TCGA-EE-A2ME-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b768bb3-0f40-4421-b3b6-9b38680ccfbc b757fe4a-ff9a-4332-b5d9-70d1e711478b g.chrX:27999214C>T ENST00000441525.1 - 1 352 c.238G>A c.(238-240)Gaa>Aaa p.E80K NM_001017930.1 NP_001017930.1 A6NGE4 DC8L1_HUMAN DDB1 and CUL4 associated factor 8-like 1 80 Glu-rich. p.E80K(2) NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1) 56 CTTTCAAGTTCGACGTCTTCA 0.488000 12 57 0 0 0.000151284 0 0 MROH8 140699 broad.mit.edu 37 20 35743589 35743589 + Missense_Mutation SNP G G A TCGA-EE-A2ME-06A-11D-A197-08 TCGA-EE-A2ME-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b768bb3-0f40-4421-b3b6-9b38680ccfbc b757fe4a-ff9a-4332-b5d9-70d1e711478b g.chr20:35743589G>A ENST00000400441.3 - 19 2521 c.2522C>T c.(2521-2523)tCc>tTc p.S841F MROH8_ENST00000217333.8_Missense_Mutation_p.S670F|MROH8_ENST00000441008.2_Missense_Mutation_p.S827F maestro heat-like repeat family member 8 ACCAAATAAGGAGAACAGGGT 0.438000 7 57 0 0 8.12818e-05 0 0 RNF213 57674 broad.mit.edu 37 17 78337016 78337016 + Missense_Mutation SNP C C T TCGA-EE-A2ME-06A-11D-A197-08 TCGA-EE-A2ME-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b768bb3-0f40-4421-b3b6-9b38680ccfbc b757fe4a-ff9a-4332-b5d9-70d1e711478b g.chr17:78337016C>T ENST00000582970.1 + 40 11613 c.11470C>T c.(11470-11472)Cgt>Tgt p.R3824C RNF213_ENST00000336301.6_Missense_Mutation_p.R1897C|RNF213_ENST00000508628.2_Missense_Mutation_p.R3873C|CTD-2047H16.4_ENST00000572151.1_RNA|CTD-2047H16.4_ENST00000575034.1_RNA NM_001256071.1 NP_001243000.1 Q9HCF4 ALO17_HUMAN ring finger protein 213 0 NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) TTTCAGAAGCCGTCTGCAGAA 0.552000 5 82 0 0 8.12818e-05 0 0 TSGA13 114960 broad.mit.edu 37 7 130353979 130353979 + Silent SNP G G T TCGA-EE-A2ME-06A-11D-A197-08 TCGA-EE-A2ME-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b768bb3-0f40-4421-b3b6-9b38680ccfbc b757fe4a-ff9a-4332-b5d9-70d1e711478b g.chr7:130353979G>T ENST00000456951.1 - 9 1554 c.703C>A c.(703-705)Cgg>Agg p.R235R TSGA13_ENST00000356588.3_Silent_p.R235R Q96PP4 TSG13_HUMAN testis specific, 13 235 endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 18 Melanoma(18;0.0435) AGTGGTTCCCGAATCACTTTG 0.562000 16 278 3.51602e-12 1.48562e-10 0.000132079 1 0 PPM1J 333926 broad.mit.edu 37 1 113253414 113253414 + Silent SNP G G A TCGA-EE-A2ME-06A-11D-A197-08 TCGA-EE-A2ME-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b768bb3-0f40-4421-b3b6-9b38680ccfbc b757fe4a-ff9a-4332-b5d9-70d1e711478b g.chr1:113253414G>A ENST00000464951.1 - 9 1960 c.552C>T c.(550-552)gtC>gtT p.V184V PPM1J_ENST00000359994.4_Silent_p.V184V|RP11-426L16.10_ENST00000471038.2_5'UTR|RP11-426L16.10_ENST00000606505.1_Silent_p.L72L|PPM1J_ENST00000309276.6_Silent_p.V390V Q5JR12 PPM1J_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1J 390 PP2C-like. breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1) 14 Lung SC(450;0.246) all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) TGGAACTGCAGACCTTAAGGC 0.577000 4 64 0 0 3.59834e-05 0 0 CYP2D7 1564 broad.mit.edu 37 22 42537677 42537677 + RNA SNP C C T TCGA-EE-A2ME-06A-11D-A197-08 TCGA-EE-A2ME-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b768bb3-0f40-4421-b3b6-9b38680ccfbc b757fe4a-ff9a-4332-b5d9-70d1e711478b g.chr22:42537677C>T ENST00000435101.1 - 0 65 CYP2D7P1_ENST00000358097.4_RNA|CYP2D7P1_ENST00000433992.1_RNA endometrium(1) 1 TCTCAGGGCTCCCCTTGGCCT 0.612000 6 16 0 0 8.12818e-05 0 0 ABCA13 154664 broad.mit.edu 37 7 48556372 48556372 + Silent SNP G G A TCGA-EE-A2ME-06A-11D-A197-08 TCGA-EE-A2ME-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b768bb3-0f40-4421-b3b6-9b38680ccfbc b757fe4a-ff9a-4332-b5d9-70d1e711478b g.chr7:48556372G>A ENST00000435803.1 + 52 13716 c.13692G>A c.(13690-13692)tcG>tcA p.S4564S ABCA13_ENST00000544596.1_Silent_p.S294S NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 4564 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 TTTCCAGTTCGGACGTGGCTT 0.398000 10 240 0 0 6.40141e-05 0 0 KLHL28 54813 broad.mit.edu 37 14 45403424 45403424 + Missense_Mutation SNP A A C TCGA-EE-A2ME-06A-11D-A197-08 TCGA-EE-A2ME-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b768bb3-0f40-4421-b3b6-9b38680ccfbc b757fe4a-ff9a-4332-b5d9-70d1e711478b g.chr14:45403424A>C ENST00000396128.4 - 3 1356 c.1237T>G c.(1237-1239)Tgg>Ggg p.W413G KLHL28_ENST00000355081.2_Missense_Mutation_p.W427G NM_017658.3 NP_060128.2 Q9NXS3 KLH28_HUMAN kelch-like family member 28 413 breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 ACAGGTTGCCATTTTCTTATT 0.418000 5 65 0 0 1.23904e-05 0 0 BRAF 673 broad.mit.edu 37 7 140453137 140453137 + Missense_Mutation SNP C C T rs121913227 TCGA-EE-A2ME-06A-11D-A197-08 TCGA-EE-A2ME-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b768bb3-0f40-4421-b3b6-9b38680ccfbc b757fe4a-ff9a-4332-b5d9-70d1e711478b g.chr7:140453137C>T ENST00000288602.6 - 15 1858 c.1798G>A c.(1798-1800)Gtg>Atg p.V600M 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.V600K(252)|p.V600R(44)|p.V600M(21)|p.V600L(9)|p.T599_R603>I(2)|p.T599_V600>IAL(2)|p.V600Q(2)|p.T599_V600insT(2)|p.T599_V600insTT(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) CGAGATTTCACTGTAGCTAGA 0.363000 V600M(IGR1_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 10 87 0 0 0.00010058 0 0 MXRA5 25878 broad.mit.edu 37 X 3240756 3240756 + Silent SNP C C T TCGA-EE-A2ME-06A-11D-A197-08 TCGA-EE-A2ME-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b768bb3-0f40-4421-b3b6-9b38680ccfbc b757fe4a-ff9a-4332-b5d9-70d1e711478b g.chrX:3240756C>T ENST00000217939.6 - 5 3124 c.2970G>A c.(2968-2970)gaG>gaA p.E990E NM_015419.3 NP_056234.2 Q9NR99 MXRA5_HUMAN matrix-remodelling associated 5 990 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) TCATCTTATCCTCATCTGGTT 0.458000 4 55 0 0 0.00024832 0 0 POP1 10940 broad.mit.edu 37 8 99146830 99146830 + Silent SNP G G C TCGA-EE-A2ME-06A-11D-A197-08 TCGA-EE-A2ME-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b768bb3-0f40-4421-b3b6-9b38680ccfbc b757fe4a-ff9a-4332-b5d9-70d1e711478b g.chr8:99146830G>C ENST00000401707.2 + 7 1035 c.954G>C c.(952-954)ccG>ccC p.P318P POP1_ENST00000349693.3_Silent_p.P318P NM_001145860.1|NM_001145861.1 NP_001139332.1|NP_001139333.1 Q99575 POP1_HUMAN processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae) 318 tRNA 5'-leader removal|tRNA catabolic process nucleolar ribonuclease P complex|ribonuclease MRP complex identical protein binding|ribonuclease MRP activity|ribonuclease P activity autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 36 Breast(36;1.78e-06) OV - Ovarian serous cystadenocarcinoma(57;0.145) AGAGGACCCCGGGTGACCCTT 0.502000 4 74 0 0 8.12818e-05 0 0 ADAMTS10 81794 broad.mit.edu 37 19 8651734 8651734 + Silent SNP G G A TCGA-EE-A2ME-06A-11D-A197-08 TCGA-EE-A2ME-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b768bb3-0f40-4421-b3b6-9b38680ccfbc b757fe4a-ff9a-4332-b5d9-70d1e711478b g.chr19:8651734G>A ENST00000270328.4 - 18 2471 c.2205C>T c.(2203-2205)ttC>ttT p.F735F ADAMTS10_ENST00000597188.1_Silent_p.F735F|ADAMTS10_ENST00000595838.1_Silent_p.F222F Q9H324 ATS10_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 10 735 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1) 53 GATCCTGGATGAAGATGTGGA 0.562000 OREG0025221 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 65 0 0 3.59834e-05 0 0 ABCA4 24 broad.mit.edu 37 1 94568628 94568628 + Silent SNP G G A TCGA-EE-A2ME-06A-11D-A197-08 TCGA-EE-A2ME-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b768bb3-0f40-4421-b3b6-9b38680ccfbc b757fe4a-ff9a-4332-b5d9-70d1e711478b g.chr1:94568628G>A ENST00000370225.3 - 5 599 c.513C>T c.(511-513)atC>atT p.I171I ABCA4_ENST00000535735.1_Silent_p.I171I NM_000350.2 NP_000341.2 P78363 ABCA4_HUMAN ATP-binding cassette, sub-family A (ABC1), member 4 171 phototransduction, visible light|visual perception integral to plasma membrane|membrane fraction ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 147 all_lung(203;0.000757)|Lung NSC(277;0.00335) all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171) CAGACAGGCCGATGTTTTTAA 0.463000 11 161 0 0 0.00010058 0 0 CCR8 1237 broad.mit.edu 37 3 39373990 39373990 + Silent SNP C C T TCGA-EE-A2ME-06A-11D-A197-08 TCGA-EE-A2ME-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b768bb3-0f40-4421-b3b6-9b38680ccfbc b757fe4a-ff9a-4332-b5d9-70d1e711478b g.chr3:39373990C>T ENST00000326306.4 + 2 306 c.168C>T c.(166-168)gtC>gtT p.V56V CCR8_ENST00000414803.1_Intron|CCR8_ENST00000545843.1_Intron NM_005201.3 NP_005192.1 P51685 CCR8_HUMAN chemokine (C-C motif) receptor 8 56 cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response integral to plasma membrane coreceptor activity NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1) 21 KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635) ACAGCCTGGTCATCCTGGTCC 0.493000 12 188 0 0 0.000151284 0 0 SDHAP1 255812 broad.mit.edu 37 3 195690149 195690149 + RNA SNP A A G TCGA-EE-A2ME-06A-11D-A197-08 TCGA-EE-A2ME-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b768bb3-0f40-4421-b3b6-9b38680ccfbc b757fe4a-ff9a-4332-b5d9-70d1e711478b g.chr3:195690149A>G ENST00000427841.1 - 0 2325 NR_003264.2 TGACACATGCATGAGCTATTA 0.498000 3 6 0 0 6.4e-05 0 0 ATP2B1 490 broad.mit.edu 37 12 90005120 90005120 + Silent SNP C C T TCGA-EE-A2ME-06A-11D-A197-08 TCGA-EE-A2ME-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b768bb3-0f40-4421-b3b6-9b38680ccfbc b757fe4a-ff9a-4332-b5d9-70d1e711478b g.chr12:90005120C>T ENST00000428670.3 - 13 2553 c.2097G>A c.(2095-2097)agG>agA p.R699R ATP2B1_ENST00000393164.2_Silent_p.R442R|ATP2B1_ENST00000348959.3_Silent_p.R699R|ATP2B1_ENST00000359142.3_Silent_p.R699R|ATP2B1_ENST00000261173.2_Silent_p.R699R P20020 AT2B1_HUMAN ATPase, Ca++ transporting, plasma membrane 1 699 ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1) 45 TAATTCCAGCCCTCTGACACT 0.358000 9 221 0 0 0.00010058 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EE-A2ME-06A-11D-A197-08 TCGA-EE-A2ME-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b768bb3-0f40-4421-b3b6-9b38680ccfbc b757fe4a-ff9a-4332-b5d9-70d1e711478b 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 10 86 0 0 0.00010058 0 0 SORBS3 10174 broad.mit.edu 37 8 22429260 22429260 + Silent SNP C C T TCGA-EE-A2ME-06A-11D-A197-08 TCGA-EE-A2ME-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b768bb3-0f40-4421-b3b6-9b38680ccfbc b757fe4a-ff9a-4332-b5d9-70d1e711478b g.chr8:22429260C>T ENST00000240123.7 + 19 2156 c.1773C>T c.(1771-1773)tcC>tcT p.S591S SORBS3_ENST00000428103.1_Silent_p.S249S NM_005775.4 NP_005766.3 O60504 VINEX_HUMAN sorbin and SH3 domain containing 3 591 muscle contraction|positive regulation of stress fiber assembly cytoskeleton|cytosol|nucleus protein binding|structural constituent of cytoskeleton|vinculin binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9) 18 Prostate(55;0.0421)|Breast(100;0.102) BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061) CAGCTCTGTCCCACTCTCGAG 0.572000 4 50 0 0 3.59834e-05 0 0 SLC6A6 6533 broad.mit.edu 37 3 14485161 14485161 + Silent SNP C C T TCGA-EE-A2ME-06A-11D-A197-08 TCGA-EE-A2ME-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b768bb3-0f40-4421-b3b6-9b38680ccfbc b757fe4a-ff9a-4332-b5d9-70d1e711478b g.chr3:14485161C>T ENST00000454876.2 + 3 348 c.19C>T c.(19-21)Ctg>Ttg p.L7L SLC6A6_ENST00000416216.2_Silent_p.L7L|SLC6A6_ENST00000484191.1_Intron|SLC6A6_ENST00000360861.3_Silent_p.L7L P31641 SC6A6_HUMAN solute carrier family 6 (neurotransmitter transporter), member 6 7 cellular amino acid metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2) 28 CAAGGAGAAGCTGCAGTGTCT 0.552000 5 72 0 0 8.12818e-05 0 0 CDC25C 995 broad.mit.edu 37 5 137665315 137665315 + Silent SNP G G A TCGA-EE-A2ME-06A-11D-A197-08 TCGA-EE-A2ME-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b768bb3-0f40-4421-b3b6-9b38680ccfbc b757fe4a-ff9a-4332-b5d9-70d1e711478b g.chr5:137665315G>A ENST00000323760.6 - 3 494 c.216C>T c.(214-216)ctC>ctT p.L72L CDC25C_ENST00000415130.2_Intron|CDC25C_ENST00000348983.3_Intron|CDC25C_ENST00000356505.3_Silent_p.L72L|CDC25C_ENST00000514555.1_Silent_p.L72L|CDC25C_ENST00000513970.1_Silent_p.L72L|CDC25C_ENST00000357274.3_Intron NM_001790.3 NP_001781.2 P30307 MPIP3_HUMAN cell division cycle 25C 72 cell cycle checkpoint|cell division|cell proliferation|DNA replication|G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle cytosol|nucleoplasm protein tyrosine phosphatase activity|WW domain binding endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1) 16 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) TCGAAAGATCGAGGCAACGTT 0.423000 7 97 0 0 2.17888e-05 0 0 ITIH5 80760 broad.mit.edu 37 10 7682790 7682790 + Missense_Mutation SNP C C T TCGA-EE-A2ME-06A-11D-A197-08 TCGA-EE-A2ME-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b768bb3-0f40-4421-b3b6-9b38680ccfbc b757fe4a-ff9a-4332-b5d9-70d1e711478b g.chr10:7682790C>T ENST00000256861.6 - 4 406 c.328G>A c.(328-330)Gaa>Aaa p.E110K ITIH5_ENST00000397146.2_Missense_Mutation_p.E110K|ITIH5_ENST00000446830.2_5'UTR|ITIH5_ENST00000397145.2_Missense_Mutation_p.E110K NM_030569.6 NP_085046.5 Q86UX2 ITIH5_HUMAN inter-alpha-trypsin inhibitor heavy chain family, member 5 110 VIT. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3) 75 TCTGTAATTTCGCCCTGATAC 0.373000 8 109 0 0 2.17888e-05 0 0 CASR 846 broad.mit.edu 37 3 122002629 122002629 + Missense_Mutation SNP G G A TCGA-EE-A2ME-06A-11D-A197-08 TCGA-EE-A2ME-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b768bb3-0f40-4421-b3b6-9b38680ccfbc b757fe4a-ff9a-4332-b5d9-70d1e711478b g.chr3:122002629G>A ENST00000498619.1 + 7 2296 c.1858G>A c.(1858-1860)Gag>Aag p.E620K CASR_ENST00000296154.5_Missense_Mutation_p.E610K|CASR_ENST00000490131.1_Missense_Mutation_p.E610K NM_001178065.1 NP_001171536.1 P41180 CASR_HUMAN calcium-sensing receptor 610 anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification integral to plasma membrane G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 84 GBM - Glioblastoma multiforme(114;0.226) Cinacalcet(DB01012) GTCGTGGACGGAGCCCTTTGG 0.527000 5 52 0 0 1.23904e-05 0 0 NME8 51314 broad.mit.edu 37 7 37901707 37901707 + Silent SNP G G A TCGA-EE-A2ME-06A-11D-A197-08 TCGA-EE-A2ME-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b768bb3-0f40-4421-b3b6-9b38680ccfbc b757fe4a-ff9a-4332-b5d9-70d1e711478b g.chr7:37901707G>A ENST00000199447.4 + 7 720 c.348G>A c.(346-348)gaG>gaA p.E116E EPDR1_ENST00000476620.1_Intron|NME8_ENST00000440017.1_Silent_p.E116E NM_016616.4 NP_057700.3 Q8N427 TXND3_HUMAN NME/NM23 family member 8 116 Thioredoxin. cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process cytoplasm|microtubule cytoskeleton ATP binding|nucleoside diphosphate kinase activity TGATCGATGAGGAGAGAAAAA 0.348000 8 47 0 0 2.17888e-05 0 0 SPNS3 201305 broad.mit.edu 37 17 4352591 4352591 + Missense_Mutation SNP G G A TCGA-EE-A2ME-06A-11D-A197-08 TCGA-EE-A2ME-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b768bb3-0f40-4421-b3b6-9b38680ccfbc b757fe4a-ff9a-4332-b5d9-70d1e711478b g.chr17:4352591G>A ENST00000355530.2 + 7 1112 c.832G>A c.(832-834)Ggg>Agg p.G278R SPNS3_ENST00000333476.2_Missense_Mutation_p.G151R|SPNS3_ENST00000576069.1_Intron NM_182538.4 NP_872344.3 Q6ZMD2 SPNS3_HUMAN spinster homolog 3 (Drosophila) 278 lipid transport|transmembrane transport integral to membrane NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2) 28 TGGAGCCCTGGGGTTCTGGGC 0.657000 4 47 0 0 1.23904e-05 0 0 IL2RB 3560 broad.mit.edu 37 22 37531454 37531454 + Silent SNP G G A TCGA-EE-A2ME-06A-11D-A197-08 TCGA-EE-A2ME-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b768bb3-0f40-4421-b3b6-9b38680ccfbc b757fe4a-ff9a-4332-b5d9-70d1e711478b g.chr22:37531454G>A ENST00000216223.5 - 8 930 c.732C>T c.(730-732)ctC>ctT p.L244L NM_000878.3 NP_000869.1 P14784 IL2RB_HUMAN interleukin 2 receptor, beta 244 interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly external side of plasma membrane|integral to plasma membrane interleukin-2 receptor activity breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5) 23 Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004) GGAGGTGGCCGAGCCACGGAA 0.592000 30 69 0 0 0.000228196 0 0 ATP12A 479 broad.mit.edu 37 13 25264842 25264842 + Missense_Mutation SNP C C T TCGA-EE-A2ME-06A-11D-A197-08 TCGA-EE-A2ME-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b768bb3-0f40-4421-b3b6-9b38680ccfbc b757fe4a-ff9a-4332-b5d9-70d1e711478b g.chr13:25264842C>T ENST00000218548.6 + 7 1115 c.782C>T c.(781-783)tCc>tTc p.S261F ATP12A_ENST00000381946.3_Missense_Mutation_p.S261F NM_001185085.1|NM_001676.5 NP_001172014.1|NP_001667.4 P54707 AT12A_HUMAN ATPase, H+/K+ transporting, nongastric, alpha polypeptide 261 ATP biosynthetic process hydrogen:potassium-exchanging ATPase complex ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5) 74 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228) Esomeprazole(DB00736)|Pantoprazole(DB00213) TGCTTCTATTCCACAACGTGT 0.547000 9 180 0 0 3.86212e-05 0 0 CSMD2 114784 broad.mit.edu 37 1 34038107 34038107 + Splice_Site SNP G G A TCGA-EE-A2ME-06A-11D-A197-08 TCGA-EE-A2ME-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b768bb3-0f40-4421-b3b6-9b38680ccfbc b757fe4a-ff9a-4332-b5d9-70d1e711478b g.chr1:34038107G>A ENST00000373381.4 - 50 7937 c.7762_splice c.e50+1 p.V2587_splice NM_052896.3 NP_443128.2 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 2589 Sushi 15. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) AGGACTCACGGACACACTGTG 0.582000 5 89 0 0 3.59834e-05 0 0 C12orf40 283461 broad.mit.edu 37 12 40076667 40076667 + Missense_Mutation SNP G G A TCGA-EE-A2ME-06A-11D-A197-08 TCGA-EE-A2ME-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b768bb3-0f40-4421-b3b6-9b38680ccfbc b757fe4a-ff9a-4332-b5d9-70d1e711478b g.chr12:40076667G>A ENST00000324616.5 + 8 1095 c.941G>A c.(940-942)aGg>aAg p.R314K C12orf40_ENST00000398716.1_Missense_Mutation_p.R237K|C12orf40_ENST00000405531.3_Missense_Mutation_p.R314K NM_001031748.2 NP_001026918.2 Q86WS4 CL040_HUMAN chromosome 12 open reading frame 40 314 breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2) 38 GATGAGCAAAGGATAAAGAAA 0.333000 5 56 0 0 1.23904e-05 0 0 MARK3 4140 broad.mit.edu 37 14 103932348 103932348 + Missense_Mutation SNP C C T TCGA-EE-A2ME-06A-11D-A197-08 TCGA-EE-A2ME-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b768bb3-0f40-4421-b3b6-9b38680ccfbc b757fe4a-ff9a-4332-b5d9-70d1e711478b g.chr14:103932348C>T ENST00000429436.2 + 9 1327 c.817C>T c.(817-819)Ccc>Tcc p.P273S MARK3_ENST00000335102.5_Missense_Mutation_p.P296S|MARK3_ENST00000561071.1_Intron|MARK3_ENST00000303622.9_Missense_Mutation_p.P273S|MARK3_ENST00000216288.7_Missense_Mutation_p.P273S|MARK3_ENST00000416682.2_Missense_Mutation_p.P296S|MARK3_ENST00000553942.1_Missense_Mutation_p.P273S|MARK3_ENST00000440884.3_Missense_Mutation_p.P194S NM_001128918.1|NM_001128919.1 NP_001122390.1|NP_001122391.1 P27448 MARK3_HUMAN MAP/microtubule affinity-regulating kinase 3 273 Protein kinase. ATP binding|protein binding|protein serine/threonine kinase activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 Melanoma(154;0.155) Epithelial(46;0.241) ATACAGAATTCCCTTCTACAT 0.398000 9 86 0 0 0.000274275 0 0 CACHD1 57685 broad.mit.edu 37 1 65120413 65120413 + Missense_Mutation SNP C C T TCGA-EE-A2ME-06A-11D-A197-08 TCGA-EE-A2ME-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b768bb3-0f40-4421-b3b6-9b38680ccfbc b757fe4a-ff9a-4332-b5d9-70d1e711478b g.chr1:65120413C>T ENST00000371073.2 + 12 1709 c.1709C>T c.(1708-1710)tCc>tTc p.S570F CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Missense_Mutation_p.S519F Q5VU97 CAHD1_HUMAN cache domain containing 1 570 calcium ion transport integral to membrane breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 GTGAACTCATCCCTGTCTTGG 0.433000 8 118 0 0 0.000274275 0 0 PMFBP1 83449 broad.mit.edu 37 16 72188156 72188156 + Missense_Mutation SNP G G A TCGA-EE-A2ME-06A-11D-A197-08 TCGA-EE-A2ME-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b768bb3-0f40-4421-b3b6-9b38680ccfbc b757fe4a-ff9a-4332-b5d9-70d1e711478b g.chr16:72188156G>A ENST00000537465.1 - 4 526 c.368C>T c.(367-369)tCc>tTc p.S123F PMFBP1_ENST00000237353.10_Missense_Mutation_p.S123F|PMFBP1_ENST00000355636.6_5'UTR Q8TBY8 PMFBP_HUMAN polyamine modulated factor 1 binding protein 1 123 NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1) 45 Ovarian(137;0.179) AACCAGGTCGGAAGTCTGCTT 0.443000 6 108 0 0 3.59834e-05 0 0 ZFHX4 79776 broad.mit.edu 37 8 77765024 77765024 + Missense_Mutation SNP C C T TCGA-EE-A2ME-06A-11D-A197-08 TCGA-EE-A2ME-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b768bb3-0f40-4421-b3b6-9b38680ccfbc b757fe4a-ff9a-4332-b5d9-70d1e711478b g.chr8:77765024C>T ENST00000521891.2 + 10 6315 c.5867C>T c.(5866-5868)tCc>tTc p.S1956F ZFHX4_ENST00000455469.2_Missense_Mutation_p.S1911F|ZFHX4_ENST00000050961.6_Missense_Mutation_p.S1911F|ZFHX4_ENST00000518282.1_Missense_Mutation_p.S1930F NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 1911 Pro-rich. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) AAATTGTTTTCCAATGTTCTT 0.393000 HNSCC(33;0.089) 7 69 0 0 2.17888e-05 0 0 ARAP2 116984 broad.mit.edu 37 4 36179539 36179539 + Silent SNP C C T TCGA-EE-A2ME-06A-11D-A197-08 TCGA-EE-A2ME-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b768bb3-0f40-4421-b3b6-9b38680ccfbc b757fe4a-ff9a-4332-b5d9-70d1e711478b g.chr4:36179539C>T ENST00000303965.4 - 9 2256 c.1767G>A c.(1765-1767)gaG>gaA p.E589E NM_015230.3 NP_056045.2 Q8WZ64 ARAP2_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 589 PH 2. regulation of ARF GTPase activity|small GTPase mediated signal transduction cytosol ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1) 82 ATCCACATTTCTCAGGTGTAA 0.398000 5 106 0 0 1.23904e-05 0 0 SNRNP200 23020 broad.mit.edu 37 2 96942933 96942933 + Missense_Mutation SNP C C A TCGA-EE-A2ME-06A-11D-A197-08 TCGA-EE-A2ME-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b768bb3-0f40-4421-b3b6-9b38680ccfbc b757fe4a-ff9a-4332-b5d9-70d1e711478b g.chr2:96942933C>A ENST00000323853.5 - 42 6055 c.5978G>T c.(5977-5979)cGg>cTg p.R1993L SNRNP200_ENST00000349783.5_Intron NM_014014.4 NP_054733.2 O75643 U520_HUMAN small nuclear ribonucleoprotein 200kDa (U5) 1993 SEC63 2. catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1) 90 CAACGCGTTCCGTTCTTCATC 0.483000 5 113 8.12818e-05 0.00339536 8.12818e-05 1 0 TNR 7143 broad.mit.edu 37 1 175336410 175336410 + Missense_Mutation SNP C C T TCGA-EE-A2ME-06A-11D-A197-08 TCGA-EE-A2ME-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b768bb3-0f40-4421-b3b6-9b38680ccfbc b757fe4a-ff9a-4332-b5d9-70d1e711478b g.chr1:175336410C>T ENST00000367674.1 - 10 2695 c.1987G>A c.(1987-1989)Gga>Aga p.G663R TNR_ENST00000263525.2_Missense_Mutation_p.G663R NM_003285.2 NP_003276.3 Q92752 TENR_HUMAN tenascin R 663 Fibronectin type-III 4. axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 177 Renal(580;0.146) ATTCCAACTCCATACTCAGTG 0.498000 7 65 0 0 0.000157383 0 0 RASD2 23551 broad.mit.edu 37 22 35947611 35947611 + Silent SNP C C T TCGA-EE-A2ME-06A-11D-A197-08 TCGA-EE-A2ME-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b768bb3-0f40-4421-b3b6-9b38680ccfbc b757fe4a-ff9a-4332-b5d9-70d1e711478b g.chr22:35947611C>T ENST00000216127.4 + 3 975 c.333C>T c.(331-333)cgC>cgT p.R111R NM_014310.3 NP_055125.2 Q96D21 RHES_HUMAN RASD family, member 2 111 locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling intracellular|plasma membrane G-protein beta-subunit binding|GTP binding|GTPase activity endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1) 13 AGGTCAAGCGCCTTCAGAAGC 0.582000 7 86 0 0 0.000157383 0 0 GPR116 221395 broad.mit.edu 37 6 46851855 46851855 + Missense_Mutation SNP C C T TCGA-EE-A2ME-06A-11D-A197-08 TCGA-EE-A2ME-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b768bb3-0f40-4421-b3b6-9b38680ccfbc b757fe4a-ff9a-4332-b5d9-70d1e711478b g.chr6:46851855C>T ENST00000283296.7 - 5 770 c.482G>A c.(481-483)gGa>gAa p.G161E GPR116_ENST00000456426.2_Missense_Mutation_p.G161E|GPR116_ENST00000265417.7_Missense_Mutation_p.G161E|GPR116_ENST00000362015.4_Missense_Mutation_p.G161E NM_001098518.1 NP_001091988.1 Q8IZF2 GP116_HUMAN G protein-coupled receptor 116 161 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 Lung(136;0.192) GCAAAAAGGTCCATTGGGAGG 0.493000 6 98 0 0 8.12818e-05 0 0 MYO5C 55930 broad.mit.edu 37 15 52529725 52529725 + Missense_Mutation SNP C C T TCGA-EE-A2ME-06A-11D-A197-08 TCGA-EE-A2ME-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b768bb3-0f40-4421-b3b6-9b38680ccfbc b757fe4a-ff9a-4332-b5d9-70d1e711478b g.chr15:52529725C>T ENST00000261839.7 - 22 2983 c.2822G>A c.(2821-2823)cGa>cAa p.R941Q MYO5C_ENST00000443683.2_3'UTR NM_018728.3 NP_061198.2 Q9NQX4 MYO5C_HUMAN myosin VC 941 myosin complex actin binding|ATP binding|calmodulin binding|motor activity breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 all cancers(107;0.0137) CTCGTAATTTCGCCTGTGAGT 0.522000 10 271 0 0 3.86212e-05 0 0 SLC12A9 56996 broad.mit.edu 37 7 100454734 100454734 + Silent SNP C C T TCGA-EE-A2ME-06A-11D-A197-08 TCGA-EE-A2ME-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b768bb3-0f40-4421-b3b6-9b38680ccfbc b757fe4a-ff9a-4332-b5d9-70d1e711478b g.chr7:100454734C>T ENST00000354161.3 + 5 818 c.693C>T c.(691-693)tcC>tcT p.S231S SLC12A9_ENST00000428758.1_Silent_p.S231S|SLC12A9_ENST00000275729.3_Silent_p.S142S|SLC12A9_ENST00000415287.1_Silent_p.S142S|SLC12A9_ENST00000540482.1_Silent_p.S231S NM_020246.3 NP_064631.2 Q9BXP2 S12A9_HUMAN solute carrier family 12, member 9 231 S -> A (in Ref. 3; BAB40456). integral to membrane|plasma membrane cation:chloride symporter activity breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 41 Lung NSC(181;0.041)|all_lung(186;0.0581) ATGGCTCCTCCCTGCCGCCCC 0.642000 13 91 0 0 0.000422831 0 0 KCNJ8 3764 broad.mit.edu 37 12 21919327 21919327 + Missense_Mutation SNP C C T TCGA-EE-A2ME-06A-11D-A197-08 TCGA-EE-A2ME-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b768bb3-0f40-4421-b3b6-9b38680ccfbc b757fe4a-ff9a-4332-b5d9-70d1e711478b g.chr12:21919327C>T ENST00000240662.2 - 3 950 c.605G>A c.(604-606)cGa>cAa p.R202Q RP11-59N23.1_ENST00000542489.1_RNA NM_004982.3 NP_004973.1 Q15842 IRK8_HUMAN potassium inwardly-rectifying channel, subfamily J, member 8 202 voltage-gated potassium channel complex cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 28 Levosimendan(DB00922) CTTGCCATTTCGGACGGCAAT 0.478000 6 106 0 0 3.59834e-05 0 0 TUFT1 7286 broad.mit.edu 37 1 151553422 151553422 + Missense_Mutation SNP T T C TCGA-EE-A2ME-06A-11D-A197-08 TCGA-EE-A2ME-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b768bb3-0f40-4421-b3b6-9b38680ccfbc b757fe4a-ff9a-4332-b5d9-70d1e711478b g.chr1:151553422T>C ENST00000368849.3 + 12 1075 c.1013T>C c.(1012-1014)tTa>tCa p.L338S TUFT1_ENST00000392712.3_Missense_Mutation_p.L283S|TUFT1_ENST00000538902.1_Missense_Mutation_p.L357S|TUFT1_ENST00000353024.3_Missense_Mutation_p.L279S|TUFT1_ENST00000368848.2_Missense_Mutation_p.L313S NM_020127.2 NP_064512.1 Q9NNX1 TUFT1_HUMAN tuftelin 1 338 bone mineralization|odontogenesis cytoplasm|extracellular region structural constituent of tooth enamel cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1) 13 Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) LUSC - Lung squamous cell carcinoma(543;0.181) TTACAGAATTTAGAGATGCAT 0.512000 5 47 0 0 1.23904e-05 0 0 IQCJ-SCHIP1 100505385 broad.mit.edu 37 3 158980374 158980374 + Missense_Mutation SNP G G A TCGA-EE-A2ME-06A-11D-A197-08 TCGA-EE-A2ME-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b768bb3-0f40-4421-b3b6-9b38680ccfbc b757fe4a-ff9a-4332-b5d9-70d1e711478b g.chr3:158980374G>A ENST00000485419.1 + 4 362 c.193G>A c.(193-195)Gag>Aag p.E65K IQCJ_ENST00000397832.2_Missense_Mutation_p.E65K|IQCJ-SCHIP1_ENST00000467442.1_3'UTR|IQCJ_ENST00000481796.1_3'UTR|IQCJ-SCHIP1_ENST00000476809.1_Missense_Mutation_p.E38K|IQCJ_ENST00000451172.1_Missense_Mutation_p.E65K|IQCJ_ENST00000482126.1_Missense_Mutation_p.E38K NM_001197113.1 NP_001184042.1 Q9P0W5 SCHI1_HUMAN 0 Ser-rich. cytoplasm identical protein binding|protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7) 12 GCAGCGGCAGGAGCCCCTGGG 0.537000 6 73 0 0 8.12818e-05 0 0 RABL6 55684 broad.mit.edu 37 9 139734209 139734209 + Missense_Mutation SNP C C T TCGA-EE-A2ME-06A-11D-A197-08 TCGA-EE-A2ME-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b768bb3-0f40-4421-b3b6-9b38680ccfbc b757fe4a-ff9a-4332-b5d9-70d1e711478b g.chr9:139734209C>T ENST00000371675.3 + 13 2362 c.1477C>T c.(1477-1479)Ccg>Tcg p.P493S RABL6_ENST00000432842.2_3'UTR|RABL6_ENST00000371663.4_Missense_Mutation_p.P609S|RABL6_ENST00000357466.2_Intron|RABL6_ENST00000311502.7_Missense_Mutation_p.P608S RAB, member RAS oncogene family-like 6 CCCTGCCGAGCCGCCCCCACC 0.652000 6 36 0 0 0.000157383 0 0 ADAM19 8728 broad.mit.edu 37 5 156915277 156915277 + Missense_Mutation SNP G G A TCGA-EE-A2ME-06A-11D-A197-08 TCGA-EE-A2ME-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b768bb3-0f40-4421-b3b6-9b38680ccfbc b757fe4a-ff9a-4332-b5d9-70d1e711478b g.chr5:156915277G>A ENST00000257527.4 - 21 2624 c.2546C>T c.(2545-2547)tCc>tTc p.S849F ADAM19_ENST00000430702.2_Missense_Mutation_p.S582F|ADAM19_ENST00000517905.1_Missense_Mutation_p.S849F|ADAM19_ENST00000394020.1_Missense_Mutation_p.S851F NM_033274.3 NP_150377.1 Q9H013 ADA19_HUMAN ADAM metallopeptidase domain 19 849 proteolysis integral to membrane metalloendopeptidase activity|SH3 domain binding|zinc ion binding breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 53 Renal(175;0.00488) Medulloblastoma(196;0.0359)|all_neural(177;0.14) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) ACTTACCTGGGAAACGATGCA 0.552000 5 123 0 0 8.12818e-05 0 0 MLLT3 4300 broad.mit.edu 37 9 20413952 20413952 + Frame_Shift_Del DEL T T - TCGA-EE-A2ME-06A-11D-A197-08 TCGA-EE-A2ME-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b768bb3-0f40-4421-b3b6-9b38680ccfbc b757fe4a-ff9a-4332-b5d9-70d1e711478b g.chr9:20413952delT ENST00000380338.4 - 5 1178 c.892delA c.(892-894)ggfs p.R298fs MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Frame_Shift_Del_p.R295fs|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, 3 298 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus protein binding 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) CTCTTTTTCCTTTTTTTGGCT 0.393 T MLL ALL 10 178 --- --- --- --- RAPGEF3 10411 broad.mit.edu 37 12 48134465 48134465 + Frame_Shift_Del DEL G G - TCGA-EE-A2ME-06A-11D-A197-08 TCGA-EE-A2ME-10A-01D-A199-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b768bb3-0f40-4421-b3b6-9b38680ccfbc b757fe4a-ff9a-4332-b5d9-70d1e711478b g.chr12:48134465delG ENST00000405493.2 - 21 2274 c.2065delC c.(2065-2067)ggfs p.R689fs RAPGEF3_ENST00000389212.3_Frame_Shift_Del_p.R731fs|RAPGEF3_ENST00000549151.1_Frame_Shift_Del_p.R689fs|RAPGEF3_ENST00000548919.1_Frame_Shift_Del_p.R640fs|RAPGEF3_ENST00000171000.4_Frame_Shift_Del_p.R689fs|RAPGEF3_ENST00000449771.2_Frame_Shift_Del_p.R731fs|RP1-197B17.3_ENST00000547799.1_lincRNA NM_001098532.2|NM_006105.5 NP_001092002.1|NP_006096.2 A8K2G5 A8K2G5_HUMAN Rap guanine nucleotide exchange factor (GEF) 3 689 regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cAMP-dependent protein kinase complex cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7) 25 Lung SC(27;0.192) GBM - Glioblastoma multiforme(48;0.0375) AGCTGGGCCCGGGGGCCGGGC 0.652 7 41 --- --- --- ---