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 NLRP4 147945 broad.mit.edu 37 19 56382251 56382251 + Missense_Mutation SNP C C G rs144714657 by1000genomes TCGA-50-5944-01A-11D-1753-08 TCGA-50-5944-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx a314ee0c-694b-4ac8-b572-ff1fbbda4765 c84c2300-f61a-4475-800d-75efe77a7716 g.chr19:56382251C>G ENST00000301295.6 + 7 2835 c.2413C>G c.(2413-2415)Cgt>Ggt p.R805G NLRP4_ENST00000346986.5_Missense_Mutation_p.R749G|NLRP4_ENST00000587891.1_Missense_Mutation_p.R730G NM_134444.4 NP_604393.2 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 805 ATP binding p.R805G(1) breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) AATGCTTCTGCGTAACAAGAG 0.522000 25 39 0 0 0.667858 0 0 NBPF10 100132406 broad.mit.edu 37 1 145302714 145302714 + Silent SNP A A G rs9424867 TCGA-50-5944-01A-11D-1753-08 TCGA-50-5944-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx a314ee0c-694b-4ac8-b572-ff1fbbda4765 c84c2300-f61a-4475-800d-75efe77a7716 g.chr1:145302714A>G ENST00000342960.5 + 8 1187 c.1152A>G c.(1150-1152)ttA>ttG p.L384L NBPF10_ENST00000369338.1_Silent_p.L113L|NBPF10_ENST00000369339.2_Silent_p.L113L|RP11-458D21.5_ENST00000468030.1_3'UTR NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 384 p.L113L(3)|p.L384L(3) NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2) 73 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) AGGAGAAGTTACGGGAAGGGA 0.527000 3 75 0 0 0.150653 0 0 NCOA1 8648 broad.mit.edu 37 2 24930566 24930566 + Missense_Mutation SNP T T G TCGA-50-5944-01A-11D-1753-08 TCGA-50-5944-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx a314ee0c-694b-4ac8-b572-ff1fbbda4765 c84c2300-f61a-4475-800d-75efe77a7716 g.chr2:24930566T>G ENST00000405141.1 + 14 2938 c.2227T>G c.(2227-2229)Tca>Gca p.S743A NCOA1_ENST00000348332.3_Missense_Mutation_p.S743A|NCOA1_ENST00000406961.1_Missense_Mutation_p.S743A|NCOA1_ENST00000407230.1_Missense_Mutation_p.S592A|NCOA1_ENST00000395856.3_Missense_Mutation_p.S743A|NCOA1_ENST00000538539.1_Missense_Mutation_p.S743A|NCOA1_ENST00000288599.5_Missense_Mutation_p.S743A Q15788 NCOA1_HUMAN nuclear receptor coactivator 1 743 p.S743A(2) PAX3/NCOA1(8) breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 53 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GAAAAAAGAATCAAAAGACCA 0.383000 T PAX3 alveolar rhadomyosarcoma 24 34 0 0 0.624587 0 0 TECRL 253017 broad.mit.edu 37 4 65146797 65146797 + Nonsense_Mutation SNP G G T TCGA-50-5944-01A-11D-1753-08 TCGA-50-5944-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx a314ee0c-694b-4ac8-b572-ff1fbbda4765 c84c2300-f61a-4475-800d-75efe77a7716 g.chr4:65146797G>T ENST00000381210.3 - 11 1036 c.926C>A c.(925-927)tCa>tAa p.S309* TECRL_ENST00000507440.1_Nonsense_Mutation_p.S309* NM_001010874.4 NP_001010874.2 Q5HYJ1 TECRL_HUMAN trans-2,3-enoyl-CoA reductase-like 309 lipid metabolic process cytoplasm|integral to membrane oxidoreductase activity, acting on the CH-CH group of donors p.S309*(1) endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1) 47 ACTAATCCATGATCCAATCTG 0.284000 5 25 3.59834e-05 3.77825e-05 0.217242 1 0 C1QTNF7 114905 broad.mit.edu 37 4 15444073 15444073 + Missense_Mutation SNP G G C TCGA-50-5944-01A-11D-1753-08 TCGA-50-5944-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx a314ee0c-694b-4ac8-b572-ff1fbbda4765 c84c2300-f61a-4475-800d-75efe77a7716 g.chr4:15444073G>C ENST00000295297.4 + 3 800 c.541G>C c.(541-543)Gag>Cag p.E181Q C1QTNF7_ENST00000444304.2_Missense_Mutation_p.E174Q|C1QTNF7_ENST00000429690.1_Missense_Mutation_p.E174Q NM_001135170.1 NP_001128642.1 Q9BXJ2 C1QT7_HUMAN C1q and tumor necrosis factor related protein 7 174 C1q. collagen p.E174Q(1)|p.E174K(1) endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1) 16 CCTCTTCAACGAGGGAGAGCA 0.443000 7 269 0 0 0.278610 0 0 PCDHGB1 56104 broad.mit.edu 37 5 140730641 140730641 + Missense_Mutation SNP G G A TCGA-50-5944-01A-11D-1753-08 TCGA-50-5944-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx a314ee0c-694b-4ac8-b572-ff1fbbda4765 c84c2300-f61a-4475-800d-75efe77a7716 g.chr5:140730641G>A ENST00000523390.1 + 1 814 c.814G>A c.(814-816)Gca>Aca p.A272T PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron NM_018922.2|NM_032095.1 NP_061745.1|NP_115266.1 p.A272T(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) GGGCATTAATGCAGAGATCAC 0.498000 24 89 0 0 0.654019 0 0 ITGAM 3684 broad.mit.edu 37 16 31282351 31282351 + Silent SNP G G T TCGA-50-5944-01A-11D-1753-08 TCGA-50-5944-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx a314ee0c-694b-4ac8-b572-ff1fbbda4765 c84c2300-f61a-4475-800d-75efe77a7716 g.chr16:31282351G>T ENST00000544665.3 + 6 575 c.504G>T c.(502-504)cgG>cgT p.R168R ITGAM_ENST00000287497.8_Silent_p.R168R NM_000632.3|NM_001145808.1 NP_000623.2|NP_001139280.1 P11215 ITAM_HUMAN integrin, alpha M (complement component 3 receptor 3 subunit) 168 VWFA. blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration integrin complex glycoprotein binding|receptor activity p.R168L(1) endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1) 56 ACTTTCGGCGGATGAAGGAGT 0.507000 49 132 2.55665e-31 3.15821e-31 0.870114 1 0 DDX39B 7919 broad.mit.edu 37 6 31508296 31508296 + Missense_Mutation SNP T T G TCGA-50-5944-01A-11D-1753-08 TCGA-50-5944-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx a314ee0c-694b-4ac8-b572-ff1fbbda4765 c84c2300-f61a-4475-800d-75efe77a7716 g.chr6:31508296T>G ENST00000417556.2 - 2 644 c.14A>C c.(13-15)gAt>gCt p.D5A DDX39B_ENST00000376177.2_Missense_Mutation_p.D5A|DDX39B_ENST00000449074.2_Missense_Mutation_p.D5A|DDX39B_ENST00000415382.2_Start_Codon_SNP_p.M1L|DDX39B_ENST00000453105.2_Start_Codon_SNP_p.M1L|DDX39B_ENST00000396172.1_Missense_Mutation_p.D5A|DDX39B_ENST00000458640.1_Missense_Mutation_p.D5A|ATP6V1G2-DDX39B_ENST00000376185.1_3'UTR Q13838 DX39B_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B 5 intronless viral mRNA export from host nucleus|RNA secondary structure unwinding|spliceosome assembly nuclear speck|spliceosomal complex|transcription export complex ATP binding|ATP-dependent protein binding|ATP-dependent RNA helicase activity|identical protein binding|U4 snRNA binding|U6 snRNA binding p.D5A(1) NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 19 ATTGTCCACATCGTTCTCTGC 0.552000 16 66 0 0 0.557998 0 0 MMP12 4321 broad.mit.edu 37 11 102743681 102743681 + RNA SNP G G A TCGA-50-5944-01A-11D-1753-08 TCGA-50-5944-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx a314ee0c-694b-4ac8-b572-ff1fbbda4765 c84c2300-f61a-4475-800d-75efe77a7716 g.chr11:102743681G>A ENST00000532855.1 - 0 360 P39900 MMP12_HUMAN matrix metallopeptidase 12 (macrophage elastase) positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding p.H88H(1) autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 26 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.014) Acetohydroxamic Acid(DB00551) ATCGAGGTGCGTGCATCATCT 0.483000 6 19 0 0 0.217242 0 0 KANK4 163782 broad.mit.edu 37 1 62737210 62737210 + Missense_Mutation SNP C C A TCGA-50-5944-01A-11D-1753-08 TCGA-50-5944-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx a314ee0c-694b-4ac8-b572-ff1fbbda4765 c84c2300-f61a-4475-800d-75efe77a7716 g.chr1:62737210C>A ENST00000371153.4 - 4 2330 c.1952G>T c.(1951-1953)gGc>gTc p.G651V KANK4_ENST00000354381.3_Missense_Mutation_p.G23V|KANK4_ENST00000371150.1_Missense_Mutation_p.G7V NM_181712.4 NP_859063.3 Q5T7N3 KANK4_HUMAN KN motif and ankyrin repeat domains 4 651 p.G651V(1) NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2) 81 TGCACGGAAGCCATAGTCTTT 0.468000 5 154 2.0095e-06 2.15303e-06 0.248553 1 0 HSD17B7P2 158160 broad.mit.edu 37 10 38654432 38654432 + RNA SNP A A G rs2257765 TCGA-50-5944-01A-11D-1753-08 TCGA-50-5944-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx a314ee0c-694b-4ac8-b572-ff1fbbda4765 c84c2300-f61a-4475-800d-75efe77a7716 g.chr10:38654432A>G ENST00000494540.1 + 0 599 NR_003086.1 TCATCTCGCAATGCAAGGAAA 0.453000 3 55 0 0 0.115264 0 0 PLEKHG1 57480 broad.mit.edu 37 6 151142342 151142342 + Missense_Mutation SNP C C T rs140780640 byFrequency TCGA-50-5944-01A-11D-1753-08 TCGA-50-5944-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx a314ee0c-694b-4ac8-b572-ff1fbbda4765 c84c2300-f61a-4475-800d-75efe77a7716 g.chr6:151142342C>T ENST00000367328.1 + 14 1732 c.1420C>T c.(1420-1422)Cgg>Tgg p.R474W PLEKHG1_ENST00000358517.2_Missense_Mutation_p.R474W NM_001029884.1 NP_001025055.1 Q9ULL1 PKHG1_HUMAN pleckstrin homology domain containing, family G (with RhoGef domain) member 1 474 regulation of Rho protein signal transduction intracellular Rho guanyl-nucleotide exchange factor activity p.R474W(1) breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3) 53 BRCA - Breast invasive adenocarcinoma(37;0.0923) OV - Ovarian serous cystadenocarcinoma(155;6.69e-13) ACCTTCCTCACGGTCACATAA 0.333000 14 41 0 0 0.457914 0 0 FDFT1 2222 broad.mit.edu 37 8 11683576 11683576 + Missense_Mutation SNP G G A TCGA-50-5944-01A-11D-1753-08 TCGA-50-5944-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx a314ee0c-694b-4ac8-b572-ff1fbbda4765 c84c2300-f61a-4475-800d-75efe77a7716 g.chr8:11683576G>A ENST00000220584.4 + 5 776 c.554G>A c.(553-555)cGt>cAt p.R185H FDFT1_ENST00000446331.2_Intron|FDFT1_ENST00000525900.1_Missense_Mutation_p.R178H|FDFT1_ENST00000525777.1_Missense_Mutation_p.R100H|FDFT1_ENST00000443614.2_Missense_Mutation_p.R142H|FDFT1_ENST00000538689.1_Missense_Mutation_p.R74H|FDFT1_ENST00000528643.1_Missense_Mutation_p.R100H|FDFT1_ENST00000530664.1_Missense_Mutation_p.R121H|FDFT1_ENST00000528812.1_Missense_Mutation_p.R121H NM_004462.3 NP_004453.3 P37268 FDFT_HUMAN farnesyl-diphosphate farnesyltransferase 1 185 cholesterol biosynthetic process|isoprenoid biosynthetic process endoplasmic reticulum membrane|integral to membrane farnesyl-diphosphate farnesyltransferase activity|oxidoreductase activity|protein binding|squalene synthase activity p.R185H(1) breast(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2) 12 all_epithelial(15;0.234) STAD - Stomach adenocarcinoma(15;0.00225) COAD - Colon adenocarcinoma(149;0.18) GGCCTTTCCCGTCTTTTCTCA 0.428000 20 85 0 0 0.624587 0 0 TP53 7157 broad.mit.edu 37 17 7577085 7577085 + Nonsense_Mutation SNP C C A rs112431538 TCGA-50-5944-01A-11D-1753-08 TCGA-50-5944-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx a314ee0c-694b-4ac8-b572-ff1fbbda4765 c84c2300-f61a-4475-800d-75efe77a7716 g.chr17:7577085C>A ENST00000420246.2 - 8 985 c.853G>T c.(853-855)Gag>Tag p.E285* TP53_ENST00000455263.2_Nonsense_Mutation_p.E285*|TP53_ENST00000445888.2_Nonsense_Mutation_p.E285*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E285*|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Nonsense_Mutation_p.E285* NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 285 Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity). E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.E285K(111)|p.E285*(24)|p.0?(8)|p.E285Q(4)|p.?(2)|p.R283fs*16(2)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.E285fs*60(1)|p.G279fs*59(1)|p.R283fs*56(1)|p.E285fs*20(1)|p.E285fs*13(1)|p.R283fs*59(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) TTCTCTTCCTCTGTGCGCCGG 0.562000 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 33 22 2.08457e-15 2.35354e-15 0.750413 1 0 BTNL2 56244 broad.mit.edu 37 6 32362585 32362585 + Silent SNP G G A TCGA-50-5944-01A-11D-1753-08 TCGA-50-5944-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx a314ee0c-694b-4ac8-b572-ff1fbbda4765 c84c2300-f61a-4475-800d-75efe77a7716 g.chr6:32362585G>A ENST00000454136.3 - 6 1300 c.1296C>T c.(1294-1296)gaC>gaT p.D432D BTNL2_ENST00000374993.1_Silent_p.D432D|BTNL2_ENST00000414363.1_Silent_p.D222D|BTNL2_ENST00000374995.3_Silent_p.D338D|BTNL2_ENST00000540315.1_Silent_p.D222D|BTNL2_ENST00000544175.1_Silent_p.D155D|BTNL2_ENST00000429232.2_3'UTR Q9UIR0 BTNL2_HUMAN butyrophilin-like 2 (MHC class II associated) 432 integral to membrane p.D432D(1) central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1) 19 AACAAGTGACGTCCACAGCGG 0.498000 29 135 0 0 0.750413 0 0 TMEM132A 54972 broad.mit.edu 37 11 60695271 60695271 + Silent SNP C C T TCGA-50-5944-01A-11D-1753-08 TCGA-50-5944-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx a314ee0c-694b-4ac8-b572-ff1fbbda4765 c84c2300-f61a-4475-800d-75efe77a7716 g.chr11:60695271C>T ENST00000005286.4 + 3 627 c.474C>T c.(472-474)ccC>ccT p.P158P TMEM132A_ENST00000453848.2_Silent_p.P158P NM_017870.3|NM_178031.2 NP_060340.2|NP_821174.1 Q24JP5 T132A_HUMAN transmembrane protein 132A 158 endoplasmic reticulum membrane|Golgi membrane|integral to membrane p.P158P(2) breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3) 32 GCAGCCTGCCCTGTGCCCGGC 0.657000 10 44 0 0 0.387290 0 0 DNM1P47 100216544 broad.mit.edu 37 15 102296140 102296140 + RNA SNP C C T TCGA-50-5944-01A-11D-1753-08 TCGA-50-5944-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx a314ee0c-694b-4ac8-b572-ff1fbbda4765 c84c2300-f61a-4475-800d-75efe77a7716 g.chr15:102296140C>T ENST00000561463.1 + 0 4186 GTCCAACCTGCACTCGCGTGG 0.602000 4 3 0 0 0.150653 0 0 CFL2 1073 broad.mit.edu 37 14 35182544 35182544 + Missense_Mutation SNP G G A TCGA-50-5944-01A-11D-1753-08 TCGA-50-5944-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx a314ee0c-694b-4ac8-b572-ff1fbbda4765 c84c2300-f61a-4475-800d-75efe77a7716 g.chr14:35182544G>A ENST00000341223.3 - 2 378 c.227C>T c.(226-228)cCt>cTt p.P76L CFL2_ENST00000298159.6_Missense_Mutation_p.P76L|CFL2_ENST00000555765.1_Missense_Mutation_p.P59L|CFL2_ENST00000556161.1_Missense_Mutation_p.P59L NM_001243645.1|NM_021914.7 NP_001230574.1|NP_068733.1 Q9Y281 COF2_HUMAN cofilin 2 (muscle) 76 ADF-H. cytoplasm|cytoskeleton|nuclear matrix actin binding p.P76L(1) breast(3)|endometrium(2)|lung(3) 8 Breast(36;0.0361)|Hepatocellular(127;0.158) LUAD - Lung adenocarcinoma(48;6.07e-06)|Lung(238;2.23e-05)|Epithelial(34;0.0387)|all cancers(34;0.0814) GBM - Glioblastoma multiforme(112;0.0424) ATCATTCAGAGGTAGCAACTT 0.383000 26 88 0 0 0.693898 0 0 HIST1H3F 8968 broad.mit.edu 37 6 26250719 26250719 + Missense_Mutation SNP G G T TCGA-50-5944-01A-11D-1753-08 TCGA-50-5944-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx a314ee0c-694b-4ac8-b572-ff1fbbda4765 c84c2300-f61a-4475-800d-75efe77a7716 g.chr6:26250719G>T ENST00000446824.2 - 1 116 c.115C>A c.(115-117)Ccc>Acc p.P39T NM_021018.2 NP_066298.1 P68431 H31_HUMAN histone cluster 1, H3f 39 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding p.P39T(1) lung(6)|urinary_tract(1) 7 TAGCGGTGGGGCTTCTTCACG 0.612000 27 89 6.55177e-30 7.99926e-30 0.717897 1 0 MYO1B 4430 broad.mit.edu 37 2 192225432 192225432 + Missense_Mutation SNP C C G TCGA-50-5944-01A-11D-1753-08 TCGA-50-5944-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx a314ee0c-694b-4ac8-b572-ff1fbbda4765 c84c2300-f61a-4475-800d-75efe77a7716 g.chr2:192225432C>G ENST00000392318.3 + 8 885 c.638C>G c.(637-639)tCt>tGt p.S213C MYO1B_ENST00000339514.4_Missense_Mutation_p.S213C|MYO1B_ENST00000392316.1_Missense_Mutation_p.S213C|MYO1B_ENST00000304164.4_Missense_Mutation_p.S213C NM_001130158.1 NP_001123630.1 O43795 MYO1B_HUMAN myosin IB 213 Myosin head-like. myosin complex actin binding|ATP binding|calmodulin binding|motor activity p.S213C(2) NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1) 55 OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236) CAGCTGCTCTCTGGTGCCTCT 0.413000 90 112 0 0 0.870114 0 0 GLYATL1 92292 broad.mit.edu 37 11 58723213 58723213 + Missense_Mutation SNP G G T TCGA-50-5944-01A-11D-1753-08 TCGA-50-5944-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx a314ee0c-694b-4ac8-b572-ff1fbbda4765 c84c2300-f61a-4475-800d-75efe77a7716 g.chr11:58723213G>T ENST00000300079.5 + 7 765 c.715G>T c.(715-717)Gcc>Tcc p.A239S RP11-142C4.6_ENST00000533954.1_RNA|GLYATL1_ENST00000317391.4_Missense_Mutation_p.A208S NM_001220496.1|NM_080661.3 NP_001207425.1|NP_542392.2 Q969I3 GLYL1_HUMAN glycine-N-acyltransferase-like 1 208 mitochondrion glycine N-acyltransferase activity p.A239S(1)|p.A208S(1) NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1) 34 Glycine(DB00145) CCTGCCAGCAGCCTGTATGCT 0.522000 8 28 3.86212e-05 4.01507e-05 0.361761 1 0 CSNK1A1P1 161635 broad.mit.edu 37 15 37109938 37109938 + RNA SNP G G T TCGA-50-5944-01A-11D-1753-08 TCGA-50-5944-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx a314ee0c-694b-4ac8-b572-ff1fbbda4765 c84c2300-f61a-4475-800d-75efe77a7716 g.chr15:37109938G>T ENST00000430593.3 - 0 722 NR_027320.1 CTGGTTTAATGGCTCTGTGTA 0.378000 18 23 3.8784e-16 4.42644e-16 0.608945 1 0 RP11-407N17.3 0 broad.mit.edu 37 14 39716224 39716224 + Missense_Mutation SNP A A T TCGA-50-5944-01A-11D-1753-08 TCGA-50-5944-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx a314ee0c-694b-4ac8-b572-ff1fbbda4765 c84c2300-f61a-4475-800d-75efe77a7716 g.chr14:39716224A>T ENST00000553728.1 + 4 659 c.446A>T c.(445-447)gAt>gTt p.D149V MIA2_ENST00000280082.3_Missense_Mutation_p.D149V|MIA2_ENST00000556784.1_Missense_Mutation_p.D148V p.D149V(1) GAAGATAAAGATGAAAAATCT 0.299000 9 34 0 0 0.335167 0 0 ACTRT1 139741 broad.mit.edu 37 X 127185954 127185954 + Missense_Mutation SNP G G T TCGA-50-5944-01A-11D-1753-08 TCGA-50-5944-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx a314ee0c-694b-4ac8-b572-ff1fbbda4765 c84c2300-f61a-4475-800d-75efe77a7716 g.chrX:127185954G>T ENST00000371124.3 - 1 428 c.232C>A c.(232-234)Ctg>Atg p.L78M NM_138289.3 NP_612146.1 Q8TDG2 ACTT1_HUMAN actin-related protein T1 78 cytoplasm|cytoskeleton p.L78M(1) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3) 34 CCTGTTACCAGTCCACGCTCA 0.493000 64 210 3.37043e-27 4.02153e-27 0.870114 1 0 FGD5 152273 broad.mit.edu 37 3 14862467 14862467 + Missense_Mutation SNP C C A TCGA-50-5944-01A-11D-1753-08 TCGA-50-5944-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx a314ee0c-694b-4ac8-b572-ff1fbbda4765 c84c2300-f61a-4475-800d-75efe77a7716 g.chr3:14862467C>A ENST00000285046.5 + 1 1999 c.1889C>A c.(1888-1890)aCa>aAa p.T630K FGD5_ENST00000543601.1_Missense_Mutation_p.T389K NM_152536.3 NP_689749.3 Q6ZNL6 FGD5_HUMAN FYVE, RhoGEF and PH domain containing 5 630 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding p.T630K(1)|p.T389K(1) NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1) 54 AAGCCCATCACAAAGAGCTCT 0.547000 9 36 0.00829132 0.00853518 0.361761 1 0 TUBB8P7 197331 broad.mit.edu 37 16 90161578 90161578 + RNA SNP G G A rs13337896 by1000genomes TCGA-50-5944-01A-11D-1753-08 TCGA-50-5944-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx a314ee0c-694b-4ac8-b572-ff1fbbda4765 c84c2300-f61a-4475-800d-75efe77a7716 g.chr16:90161578G>A ENST00000567960.1 + 0 314 TUBB8P7_ENST00000564451.1_RNA p.R105H(3) GCCAAGGGACGCTACACCGAA 0.587000 6 21 0 0 0.217242 0 0 SPAG4 6676 broad.mit.edu 37 20 34208665 34208665 + Missense_Mutation SNP G G C TCGA-50-5944-01A-11D-1753-08 TCGA-50-5944-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx a314ee0c-694b-4ac8-b572-ff1fbbda4765 c84c2300-f61a-4475-800d-75efe77a7716 g.chr20:34208665G>C ENST00000374273.3 + 11 1249 c.1137G>C c.(1135-1137)gaG>gaC p.E379D NM_003116.1 NP_003107.1 Q9NPE6 SPAG4_HUMAN sperm associated antigen 4 379 SUN. spermatogenesis cilium|flagellar axoneme|integral to membrane structural molecule activity p.E379D(1) NS(1)|cervix(5)|kidney(1)|large_intestine(3)|lung(10)|ovary(1) 21 Lung NSC(9;0.0053)|all_lung(11;0.00785) BRCA - Breast invasive adenocarcinoma(18;0.0127) TCGATGTTGAGAAATCGGAGA 0.507000 20 279 0 0 0.608945 0 0 CSMD1 64478 broad.mit.edu 37 8 3226892 3226892 + Splice_Site SNP G G C TCGA-50-5944-01A-11D-1753-08 TCGA-50-5944-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx a314ee0c-694b-4ac8-b572-ff1fbbda4765 c84c2300-f61a-4475-800d-75efe77a7716 g.chr8:3226892G>C ENST00000520002.1 - 20 3341 c.2785_splice c.e20-1 p.A929_splice CSMD1_ENST00000537824.1_Splice_Site_p.A928_splice|CSMD1_ENST00000602723.1_Splice_Site_p.A929_splice|CSMD1_ENST00000400186.3_Splice_Site_p.A929_splice|CSMD1_ENST00000602557.1_Splice_Site_p.A929_splice|CSMD1_ENST00000542608.1_Splice_Site_p.A928_splice|CSMD1_ENST00000539096.1_Splice_Site_p.A928_splice Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 929 Sushi 5. integral to membrane p.A928G(1)|p.A657G(1) 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) TCCACATAGAGCTTAAAATAA 0.388000 3 19 0 0 0.115264 0 0 PTDSS1 9791 broad.mit.edu 37 8 97321848 97321848 + Silent SNP T T C TCGA-50-5944-01A-11D-1753-08 TCGA-50-5944-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx a314ee0c-694b-4ac8-b572-ff1fbbda4765 c84c2300-f61a-4475-800d-75efe77a7716 g.chr8:97321848T>C ENST00000517309.1 + 9 1397 c.1071T>C c.(1069-1071)ttT>ttC p.F357F PTDSS1_ENST00000455950.2_Silent_p.F211F|PTDSS1_ENST00000522072.1_Silent_p.F154F NM_014754.1 NP_055569.1 P48651 PTSS1_HUMAN phosphatidylserine synthase 1 357 phosphatidylserine biosynthetic process integral to membrane transferase activity p.F357F(1) endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1) 29 Breast(36;6.18e-05) Phosphatidylserine(DB00144) GCTGGGTGTTTGGGTGAGTAA 0.408000 18 38 0 0 0.639603 0 0 TOP3B 8940 broad.mit.edu 37 22 22323138 22323138 + Silent SNP A A G TCGA-50-5944-01A-11D-1753-08 TCGA-50-5944-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx a314ee0c-694b-4ac8-b572-ff1fbbda4765 c84c2300-f61a-4475-800d-75efe77a7716 g.chr22:22323138A>G ENST00000398793.2 - 7 1025 c.591T>C c.(589-591)acT>acC p.T197T TOP3B_ENST00000357179.5_Silent_p.T197T|TOP3B_ENST00000413067.2_5'UTR NM_003935.3 NP_003926.1 O95985 TOP3B_HUMAN topoisomerase (DNA) III beta 197 DNA topological change nucleus ATP binding|DNA topoisomerase type I activity|protein binding p.T197T(2) breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1) 26 Colorectal(54;0.105) READ - Rectum adenocarcinoma(21;0.145) GGAAATATTTAGTCTGAAACC 0.488000 3 99 0 0 0.150653 0 0 CCDC178 374864 broad.mit.edu 37 18 30791980 30791980 + Silent SNP T T A rs61749300 TCGA-50-5944-01A-11D-1753-08 TCGA-50-5944-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx a314ee0c-694b-4ac8-b572-ff1fbbda4765 c84c2300-f61a-4475-800d-75efe77a7716 g.chr18:30791980T>A ENST00000383096.3 - 20 2300 c.2118A>T c.(2116-2118)gcA>gcT p.A706A CCDC178_ENST00000583930.1_Silent_p.A706A|CCDC178_ENST00000406524.2_Silent_p.A706A|CCDC178_ENST00000403303.1_Silent_p.A706A|CCDC178_ENST00000579947.1_Silent_p.A706A|CCDC178_ENST00000402325.1_Silent_p.A706A|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000300227.8_Silent_p.A668A coiled-coil domain containing 178 p.A668A(1)|p.A706A(1) ACACAGTTTGTGCATGTTCCC 0.323000 7 27 0 0 0.278610 0 0 LRRIQ3 127255 broad.mit.edu 37 1 74507534 74507534 + Missense_Mutation SNP A A G TCGA-50-5944-01A-11D-1753-08 TCGA-50-5944-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx a314ee0c-694b-4ac8-b572-ff1fbbda4765 c84c2300-f61a-4475-800d-75efe77a7716 g.chr1:74507534A>G ENST00000354431.4 - 7 1272 c.1081T>C c.(1081-1083)Tca>Cca p.S361P LRRIQ3_ENST00000395089.1_Missense_Mutation_p.S361P NM_001105659.1 NP_001099129.1 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 361 S -> G (in Ref. 4; AAH62795). p.S361P(1) NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5) 73 AATGAACCTGAAGTGTATATG 0.353000 28 68 0 0 0.681144 0 0 TTC14 151613 broad.mit.edu 37 3 180320181 180320181 + Silent SNP C C T TCGA-50-5944-01A-11D-1753-08 TCGA-50-5944-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx a314ee0c-694b-4ac8-b572-ff1fbbda4765 c84c2300-f61a-4475-800d-75efe77a7716 g.chr3:180320181C>T ENST00000412756.2 + 1 201 c.132C>T c.(130-132)ggC>ggT p.G44G TTC14_ENST00000382584.4_Silent_p.G44G|TTC14_ENST00000296015.4_Silent_p.G44G NM_001042601.2 NP_001036066.1 Q96N46 TTC14_HUMAN tetratricopeptide repeat domain 14 44 RNA binding p.G44G(1) endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1) 45 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) CAGCCCGGGGCCCGCCGCCCC 0.672000 5 5 0 0 0.217242 0 0 COL17A1 1308 broad.mit.edu 37 10 105800830 105800830 + Silent SNP G G A TCGA-50-5944-01A-11D-1753-08 TCGA-50-5944-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx a314ee0c-694b-4ac8-b572-ff1fbbda4765 c84c2300-f61a-4475-800d-75efe77a7716 g.chr10:105800830G>A ENST00000353479.5 - 39 2984 c.2694C>T c.(2692-2694)tcC>tcT p.S898S COL17A1_ENST00000369733.3_Silent_p.S898S NM_000494.3 NP_000485.3 Q9UMD9 COHA1_HUMAN collagen, type XVII, alpha 1 898 Triple-helical region. cell-matrix adhesion|epidermis development|hemidesmosome assembly basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane protein binding p.S898S(1) NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 62 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) TACCTGAGTTGGACAGGAACG 0.577000 6 46 0 0 0.278610 0 0 GYS1 2997 broad.mit.edu 37 19 49494725 49494725 + Missense_Mutation SNP G G T TCGA-50-5944-01A-11D-1753-08 TCGA-50-5944-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx a314ee0c-694b-4ac8-b572-ff1fbbda4765 c84c2300-f61a-4475-800d-75efe77a7716 g.chr19:49494725G>T ENST00000323798.3 - 2 330 c.134C>A c.(133-135)aCg>aAg p.T45K GYS1_ENST00000263276.6_Missense_Mutation_p.T45K|GYS1_ENST00000541188.1_Intron|GYS1_ENST00000544287.1_Intron|GYS1_ENST00000540532.1_Intron|GYS1_ENST00000457974.1_5'UTR NM_002103.4 NP_002094.2 P13807 GYS1_HUMAN glycogen synthase 1 (muscle) 45 glucose metabolic process|glycogen biosynthetic process cytosol glycogen (starch) synthase activity|protein binding p.T45K(1) breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286) CTGCAGCACCGTGTAGATGCC 0.672000 14 108 2.32078e-09 2.53836e-09 0.479597 1 0 PCDH18 54510 broad.mit.edu 37 4 138453153 138453153 + Missense_Mutation SNP C C G TCGA-50-5944-01A-11D-1753-08 TCGA-50-5944-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx a314ee0c-694b-4ac8-b572-ff1fbbda4765 c84c2300-f61a-4475-800d-75efe77a7716 g.chr4:138453153C>G ENST00000344876.4 - 1 476 c.90G>C c.(88-90)ttG>ttC p.L30F PCDH18_ENST00000412923.2_Missense_Mutation_p.L30F|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Intron NM_019035.3 NP_061908.1 Q9HCL0 PCD18_HUMAN protocadherin 18 30 Cadherin 1. brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.L30F(1) NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_hematologic(180;0.24) TCCTGTATTTCAAATTCTTGC 0.378000 3 117 0 0 0.150653 0 0 RPL6 6128 broad.mit.edu 37 12 112843710 112843710 + Missense_Mutation SNP T T G rs148929822 byFrequency TCGA-50-5944-01A-11D-1753-08 TCGA-50-5944-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx a314ee0c-694b-4ac8-b572-ff1fbbda4765 c84c2300-f61a-4475-800d-75efe77a7716 g.chr12:112843710T>G ENST00000424576.2 - 6 846 c.661A>C c.(661-663)Aag>Cag p.K221Q RPL6_ENST00000202773.9_Missense_Mutation_p.K221Q NM_001024662.1 NP_001019833.1 Q02878 RL6_HUMAN ribosomal protein L6 221 endocrine pancreas development|regulation of transcription, DNA-dependent|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit DNA binding|RNA binding|structural constituent of ribosome p.K221Q(1) cervix(1)|large_intestine(6)|lung(3) 10 TTCCGCAGCTTCTTCTTCTTG 0.423000 15 79 0 0 0.520397 0 0 IRX6 79190 broad.mit.edu 37 16 55360423 55360423 + Missense_Mutation SNP C C T TCGA-50-5944-01A-11D-1753-08 TCGA-50-5944-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx a314ee0c-694b-4ac8-b572-ff1fbbda4765 c84c2300-f61a-4475-800d-75efe77a7716 g.chr16:55360423C>T ENST00000290552.7 + 2 1553 c.221C>T c.(220-222)cCc>cTc p.P74L RP11-26L20.3_ENST00000558730.2_RNA|IRX6_ENST00000558315.1_3'UTR NM_024335.2 NP_077311.2 P78412 IRX6_HUMAN iroquois homeobox 6 74 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.P74H(1)|p.P74L(1) breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 33 TATGGAGCACCCTATGCGGCC 0.672000 5 6 0 0 0.248553 0 0 ITGA2 3673 broad.mit.edu 37 5 52360756 52360756 + Silent SNP G G A TCGA-50-5944-01A-11D-1753-08 TCGA-50-5944-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx a314ee0c-694b-4ac8-b572-ff1fbbda4765 c84c2300-f61a-4475-800d-75efe77a7716 g.chr5:52360756G>A ENST00000296585.5 + 14 1760 c.1617G>A c.(1615-1617)caG>caA p.Q539Q NM_002203.3 NP_002194.2 P17301 ITA2_HUMAN integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) 539 axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis integrin complex collagen binding|identical protein binding|receptor activity p.Q539Q(2) breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 47 Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181) TTTTGGGTCAGCACCAATTTC 0.428000 3 50 0 0 0.150653 0 0 SSTR1 6751 broad.mit.edu 37 14 38679102 38679102 + Missense_Mutation SNP C C T TCGA-50-5944-01A-11D-1753-08 TCGA-50-5944-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx a314ee0c-694b-4ac8-b572-ff1fbbda4765 c84c2300-f61a-4475-800d-75efe77a7716 g.chr14:38679102C>T ENST00000267377.2 + 3 1125 c.508C>T c.(508-510)Cgg>Tgg p.R170W NM_001049.2 NP_001040.1 P30872 SSR1_HUMAN somatostatin receptor 1 170 digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient integral to plasma membrane somatostatin receptor activity p.R170W(1) breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00444) Octreotide(DB00104) CCGCTACCGCCGGCCCACCGT 0.637000 5 39 0 0 0.217242 0 0 WBSCR17 64409 broad.mit.edu 37 7 71175812 71175812 + Missense_Mutation SNP G G A TCGA-50-5944-01A-11D-1753-08 TCGA-50-5944-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx a314ee0c-694b-4ac8-b572-ff1fbbda4765 c84c2300-f61a-4475-800d-75efe77a7716 g.chr7:71175812G>A ENST00000333538.5 + 10 2201 c.1567G>A c.(1567-1569)Gac>Aac p.D523N WBSCR17_ENST00000498380.2_3'UTR NM_022479.1 NP_071924.1 Q6IS24 GLTL3_HUMAN Williams-Beuren syndrome chromosome region 17 523 Ricin B-type lectin. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding p.D523N(1) NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 100 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) ACTCCTCCCTGACACCCGCTG 0.612000 15 61 0 0 0.479597 0 0 BRINP3 339479 broad.mit.edu 37 1 190067206 190067206 + Missense_Mutation SNP G G A TCGA-50-5944-01A-11D-1753-08 TCGA-50-5944-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx a314ee0c-694b-4ac8-b572-ff1fbbda4765 c84c2300-f61a-4475-800d-75efe77a7716 g.chr1:190067206G>A ENST00000367462.3 - 8 2474 c.2243C>T c.(2242-2244)gCg>gTg p.A748V FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Missense_Mutation_p.A646V NM_199051.1 NP_950252.1 Q76B58 FAM5C_HUMAN 748 extracellular region p.A748V(1) NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2) 164 Prostate(682;0.198) GGCATTAAACGCCTGCAGAGC 0.428000 6 158 0 0 0.248553 0 0 MMP27 64066 broad.mit.edu 37 11 102565768 102565768 + Missense_Mutation SNP G G C TCGA-50-5944-01A-11D-1753-08 TCGA-50-5944-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx a314ee0c-694b-4ac8-b572-ff1fbbda4765 c84c2300-f61a-4475-800d-75efe77a7716 g.chr11:102565768G>C ENST00000260229.4 - 7 1054 c.963C>G c.(961-963)ttC>ttG p.F321L NM_022122.2 NP_071405.2 Q9H306 MMP27_HUMAN matrix metallopeptidase 27 321 Hemopexin-like 1. collagen catabolic process|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding p.F321L(1) NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176) BRCA - Breast invasive adenocarcinoma(274;0.0151) GAGATGGCCAGAATGAAGCAA 0.423000 6 74 0 0 0.278610 0 0 OR4D9 390199 broad.mit.edu 37 11 59283060 59283060 + Silent SNP G G A TCGA-50-5944-01A-11D-1753-08 TCGA-50-5944-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx a314ee0c-694b-4ac8-b572-ff1fbbda4765 c84c2300-f61a-4475-800d-75efe77a7716 g.chr11:59283060G>A ENST00000329328.3 + 1 675 c.675G>A c.(673-675)ctG>ctA p.L225L NM_001004711.1 NP_001004711.1 Q8NGE8 OR4D9_HUMAN olfactory receptor, family 4, subfamily D, member 9 225 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.L225L(1) endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1) 26 TGATGATGCTGAGGTCTCACA 0.488000 34 140 0 0 0.760397 0 0 RGS12 6002 broad.mit.edu 37 4 3344679 3344679 + Missense_Mutation SNP C C T TCGA-50-5944-01A-11D-1753-08 TCGA-50-5944-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx a314ee0c-694b-4ac8-b572-ff1fbbda4765 c84c2300-f61a-4475-800d-75efe77a7716 g.chr4:3344679C>T ENST00000336727.3 + 3 2801 c.1897C>T c.(1897-1899)Cgg>Tgg p.R633W RGS12_ENST00000306648.7_Missense_Mutation_p.R31W|RGS12_ENST00000543385.1_Missense_Mutation_p.R633W|RGS12_ENST00000382788.3_Missense_Mutation_p.R633W|RGS12_ENST00000344733.5_Missense_Mutation_p.R633W NM_002926.3 NP_002917.1 O14924 RGS12_HUMAN regulator of G-protein signaling 12 633 condensed nuclear chromosome|cytoplasm|plasma membrane GTPase activator activity|receptor signaling protein activity p.R633W(1) autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) AAAATTTGGGCGGGGAACTGG 0.448000 10 57 0 0 0.411799 0 0 SALL1 6299 broad.mit.edu 37 16 51173914 51173914 + Missense_Mutation SNP C C T TCGA-50-5944-01A-11D-1753-08 TCGA-50-5944-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx a314ee0c-694b-4ac8-b572-ff1fbbda4765 c84c2300-f61a-4475-800d-75efe77a7716 g.chr16:51173914C>T ENST00000440970.1 - 2 2359 c.1928G>A c.(1927-1929)gGc>gAc p.G643D SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.G740D NM_001127892.1 NP_001121364.1 Q9NSC2 SALL1_HUMAN spalt-like transcription factor 1 740 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.G740D(1) NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 126 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) GAAAGCCCGGCCACAGATCTT 0.552000 6 33 0 0 0.217242 0 0 SIGLEC9 27180 broad.mit.edu 37 19 51630513 51630513 + Silent SNP T T A TCGA-50-5944-01A-11D-1753-08 TCGA-50-5944-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx a314ee0c-694b-4ac8-b572-ff1fbbda4765 c84c2300-f61a-4475-800d-75efe77a7716 g.chr19:51630513T>A ENST00000440804.3 + 4 1042 c.975T>A c.(973-975)ccT>ccA p.P325P SIGLEC9_ENST00000250360.3_Silent_p.P325P NM_001198558.1 NP_001185487.1 Q9Y336 SIGL9_HUMAN sialic acid binding Ig-like lectin 9 325 Ig-like C2-type 2. cell adhesion|cell surface receptor linked signaling pathway integral to plasma membrane sugar binding p.P325P(1) NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 45 all_neural(266;0.0529) GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295) CTCAGAACCCTCTCGGCTCTC 0.612000 6 14 0 0 0.217242 0 0 EGFR 1956 broad.mit.edu 37 7 55259515 55259515 + Missense_Mutation SNP T T G rs121434568 TCGA-50-5944-01A-11D-1753-08 TCGA-50-5944-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx a314ee0c-694b-4ac8-b572-ff1fbbda4765 c84c2300-f61a-4475-800d-75efe77a7716 g.chr7:55259515T>G ENST00000275493.2 + 21 2750 c.2573T>G c.(2572-2574)cTg>cGg p.L858R EGFR_ENST00000455089.1_Missense_Mutation_p.L813R|EGFR_ENST00000454757.2_Missense_Mutation_p.L805R|EGFR_ENST00000442591.1_Intron NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 858 Protein kinase. L -> M (found in a lung cancer sample).|L -> R (found in a lung cancer sample; somatic mutation; constitutively activated enzyme with strongly increased kinase activity). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.L858R(1489)|p.L858Q(1)|p.L858K(1) NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) GATTTTGGGCTGGCCAAACTG 0.537000 L858R(NCIH1975_LUNG) 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 23 57 0 0 0.639603 0 0 NAP1L5 266812 broad.mit.edu 37 4 89618409 89618409 + Missense_Mutation SNP C C T TCGA-50-5944-01A-11D-1753-08 TCGA-50-5944-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx a314ee0c-694b-4ac8-b572-ff1fbbda4765 c84c2300-f61a-4475-800d-75efe77a7716 g.chr4:89618409C>T ENST00000323061.5 - 1 977 c.497G>A c.(496-498)gGg>gAg p.G166E HERC3_ENST00000543130.1_Intron|HERC3_ENST00000402738.1_Intron|HERC3_ENST00000264345.3_Intron NM_153757.2 NP_715638.1 Q96NT1 NP1L5_HUMAN nucleosome assembly protein 1-like 5 166 nucleosome assembly nucleus protein binding p.G166E(1) endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 7 OV - Ovarian serous cystadenocarcinoma(123;0.000181) ATGTTTGGCCCCCGCGGCAGC 0.612000 27 75 0 0 0.729181 0 0 TBC1D16 125058 broad.mit.edu 37 17 77915948 77915948 + Missense_Mutation SNP C C T TCGA-50-5944-01A-11D-1753-08 TCGA-50-5944-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx a314ee0c-694b-4ac8-b572-ff1fbbda4765 c84c2300-f61a-4475-800d-75efe77a7716 g.chr17:77915948C>T ENST00000310924.2 - 11 2081 c.1966G>A c.(1966-1968)Gtc>Atc p.V656I TBC1D16_ENST00000576768.1_Missense_Mutation_p.V281I|TBC1D16_ENST00000340848.7_Missense_Mutation_p.V294I NM_001271844.1|NM_001271845.1|NM_019020.2 NP_001258773.1|NP_001258774.1|NP_061893.2 Q8TBP0 TBC16_HUMAN TBC1 domain family, member 16 656 intracellular Rab GTPase activator activity p.V656I(1) NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3) 28 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819) TGCTCGATGACGTCATCCCCG 0.612000 5 18 0 0 0.217242 0 0 ESPNP 284729 broad.mit.edu 37 1 17017751 17017751 + RNA SNP C C G TCGA-50-5944-01A-11D-1753-08 TCGA-50-5944-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx a314ee0c-694b-4ac8-b572-ff1fbbda4765 c84c2300-f61a-4475-800d-75efe77a7716 g.chr1:17017751C>G ENST00000492551.1 - 0 1976 NR_026567.1 GGTCCCACCTCCAGGCGGGCA 0.662000 9 15 0 0 0.307466 0 0 RIOK2 55781 broad.mit.edu 37 5 96503628 96503628 + Missense_Mutation SNP C C G TCGA-50-5944-01A-11D-1753-08 TCGA-50-5944-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx a314ee0c-694b-4ac8-b572-ff1fbbda4765 c84c2300-f61a-4475-800d-75efe77a7716 g.chr5:96503628C>G ENST00000283109.3 - 8 1008 c.940G>C c.(940-942)Gaa>Caa p.E314Q CTD-2215E18.1_ENST00000509481.1_Intron|RIOK2_ENST00000508447.1_Missense_Mutation_p.E314Q NM_018343.2 NP_060813.2 Q9BVS4 RIOK2_HUMAN RIO kinase 2 314 Protein kinase. ATP binding|protein serine/threonine kinase activity p.E314Q(2) breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2) 23 all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105) COAD - Colon adenocarcinoma(37;0.0657) TGAAGCAGTTCATCATCTGCC 0.408000 26 91 0 0 0.706142 0 0 ITGAM 3684 broad.mit.edu 37 16 31282350 31282350 + Missense_Mutation SNP G G T TCGA-50-5944-01A-11D-1753-08 TCGA-50-5944-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx a314ee0c-694b-4ac8-b572-ff1fbbda4765 c84c2300-f61a-4475-800d-75efe77a7716 g.chr16:31282350G>T ENST00000544665.3 + 6 574 c.503G>T c.(502-504)cGg>cTg p.R168L ITGAM_ENST00000287497.8_Missense_Mutation_p.R168L NM_000632.3|NM_001145808.1 NP_000623.2|NP_001139280.1 P11215 ITAM_HUMAN integrin, alpha M (complement component 3 receptor 3 subunit) 168 VWFA. blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration integrin complex glycoprotein binding|receptor activity p.R168L(1) endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1) 56 GACTTTCGGCGGATGAAGGAG 0.507000 50 133 1.67211e-32 2.09014e-32 0.870114 1 0 PIP4K2B 8396 broad.mit.edu 37 17 36935652 36935652 + Missense_Mutation SNP C C T TCGA-50-5944-01A-11D-1753-08 TCGA-50-5944-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx a314ee0c-694b-4ac8-b572-ff1fbbda4765 c84c2300-f61a-4475-800d-75efe77a7716 g.chr17:36935652C>T ENST00000269554.3 - 5 1118 c.638G>A c.(637-639)cGc>cAc p.R213H PIP4K2B_ENST00000311500.6_5'UTR NM_003559.4 NP_003550.1 P78356 PI42B_HUMAN phosphatidylinositol-5-phosphate 4-kinase, type II, beta 213 PIPK. cell surface receptor linked signaling pathway endoplasmic reticulum membrane|plasma membrane 1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|receptor signaling protein activity p.R213H(1) endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1) 19 GTCATACTTGCGATGCACAGT 0.552000 4 139 0 0 0.217242 0 0 TENM2 57451 broad.mit.edu 37 5 167551958 167551958 + Silent SNP C C A TCGA-50-5944-01A-11D-1753-08 TCGA-50-5944-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx a314ee0c-694b-4ac8-b572-ff1fbbda4765 c84c2300-f61a-4475-800d-75efe77a7716 g.chr5:167551958C>A ENST00000519204.1 + 10 1867 c.1749C>A c.(1747-1749)gtC>gtA p.V583V TENM2_ENST00000520394.1_Silent_p.V472V|TENM2_ENST00000403607.2_Silent_p.V537V|TENM2_ENST00000545108.1_Silent_p.V704V|TENM2_ENST00000518659.1_Silent_p.V704V|CTB-178M22.1_ENST00000517408.1_RNA teneurin transmembrane protein 2 p.V704V(1)|p.V537V(1)|p.V583V(1) TGGCGAGGGTCCAGTGCCCAG 0.617000 4 19 0.00909568 0.0092723 0.150653 1 0 DPPA4 55211 broad.mit.edu 37 3 109049557 109049557 + Missense_Mutation SNP G G A TCGA-50-5944-01A-11D-1753-08 TCGA-50-5944-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx a314ee0c-694b-4ac8-b572-ff1fbbda4765 c84c2300-f61a-4475-800d-75efe77a7716 g.chr3:109049557G>A ENST00000335658.6 - 5 547 c.493C>T c.(493-495)Cct>Tct p.P165S DPPA4_ENST00000478791.1_5'UTR NM_018189.3 NP_060659.3 Q7L190 DPPA4_HUMAN developmental pluripotency associated 4 165 nucleus protein binding p.P165S(1) central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 ACTTCAGGAGGATGTGTCTCA 0.483000 36 58 0 0 0.796494 0 0 MYRF 745 broad.mit.edu 37 11 61539415 61539415 + Missense_Mutation SNP A A G TCGA-50-5944-01A-11D-1753-08 TCGA-50-5944-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx a314ee0c-694b-4ac8-b572-ff1fbbda4765 c84c2300-f61a-4475-800d-75efe77a7716 g.chr11:61539415A>G ENST00000278836.5 + 7 1202 c.1106A>G c.(1105-1107)tAc>tGc p.Y369C TMEM258_ENST00000535042.1_Intron|MYRF_ENST00000265460.5_Missense_Mutation_p.Y360C NM_001127392.1 NP_001120864.1 myelin regulatory factor p.Y360C(1) GATGCTAACTACAAGGAGCTG 0.617000 15 58 0 0 0.520397 0 0 COL6A2 1292 broad.mit.edu 37 21 47532313 47532313 + Missense_Mutation SNP G G T TCGA-50-5944-01A-11D-1753-08 TCGA-50-5944-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx a314ee0c-694b-4ac8-b572-ff1fbbda4765 c84c2300-f61a-4475-800d-75efe77a7716 g.chr21:47532313G>T ENST00000300527.4 + 3 640 c.536G>T c.(535-537)cGg>cTg p.R179L COL6A2_ENST00000310645.5_Missense_Mutation_p.R179L|COL6A2_ENST00000409416.1_Missense_Mutation_p.R179L|COL6A2_ENST00000397763.1_Missense_Mutation_p.R179L|COL6A2_ENST00000357838.4_Missense_Mutation_p.R179L NM_001849.3 NP_001840.3 P12110 CO6A2_HUMAN collagen, type VI, alpha 2 179 Nonhelical region.|VWFA 1. axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization collagen|extracellular space|protein complex extracellular matrix structural constituent|protein binding, bridging p.R179L(3) NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 43 Breast(49;0.245) Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649) CAGGCCGAGCGGGCCCGCGAG 0.716000 14 10 1.3612e-06 1.47347e-06 0.479597 1 0 RRN3P1 730092 broad.mit.edu 37 16 21817457 21817457 + RNA SNP G G A rs150520281 by1000genomes TCGA-50-5944-01A-11D-1753-08 TCGA-50-5944-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx a314ee0c-694b-4ac8-b572-ff1fbbda4765 c84c2300-f61a-4475-800d-75efe77a7716 g.chr16:21817457G>A ENST00000546471.1 - 0 1601 CTTACATCCAGCTTGAGTAGT 0.259000 4 17 0 0 0.217242 0 0 RABEP1 9135 broad.mit.edu 37 17 5286437 5286437 + Silent SNP G G A TCGA-50-5944-01A-11D-1753-08 TCGA-50-5944-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx a314ee0c-694b-4ac8-b572-ff1fbbda4765 c84c2300-f61a-4475-800d-75efe77a7716 g.chr17:5286437G>A ENST00000262477.6 + 18 2732 c.2508G>A c.(2506-2508)cgG>cgA p.R836R NUP88_ENST00000573169.1_Intron|RABEP1_ENST00000546142.2_Silent_p.R836R|RABEP1_ENST00000537505.1_Silent_p.R793R|RABEP1_ENST00000408982.2_Silent_p.R803R|RABEP1_ENST00000341923.6_Silent_p.R803R NM_004703.4 NP_004694.2 Q15276 RABE1_HUMAN rabaptin, RAB GTPase binding effector protein 1 836 apoptosis|cellular membrane fusion|endocytosis|protein transport centrosome|early endosome|endocytic vesicle|recycling endosome growth factor activity|GTPase activator activity|protein homodimerization activity p.R836R(1) NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1) 8 AGCGGATCCGGCAAGCTGACT 0.473000 3 53 0 0 0.115264 0 0 XIRP2 129446 broad.mit.edu 37 2 168115032 168115032 + Missense_Mutation SNP A A G TCGA-50-5944-01A-11D-1753-08 TCGA-50-5944-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx a314ee0c-694b-4ac8-b572-ff1fbbda4765 c84c2300-f61a-4475-800d-75efe77a7716 g.chr2:168115032A>G ENST00000409728.1 + 11 2164 c.2075A>G c.(2074-2076)aAt>aGt p.N692S XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000409043.1_Missense_Mutation_p.N659S|XIRP2_ENST00000409756.2_Missense_Mutation_p.N659S|XIRP2_ENST00000409605.1_Missense_Mutation_p.N437S|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000420519.1_Missense_Mutation_p.N692S NM_001199143.1 NP_001186072.1 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 0 actin cytoskeleton organization cell junction actin binding p.N692S(1) 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 ATGGATCTTAATGACAACAAT 0.373000 7 30 0 0 0.278610 0 0 SLC25A12 8604 broad.mit.edu 37 2 172644412 172644412 + Missense_Mutation SNP G G A TCGA-50-5944-01A-11D-1753-08 TCGA-50-5944-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx a314ee0c-694b-4ac8-b572-ff1fbbda4765 c84c2300-f61a-4475-800d-75efe77a7716 g.chr2:172644412G>A ENST00000422440.2 - 16 1668 c.1631C>T c.(1630-1632)aCa>aTa p.T544I SLC25A12_ENST00000392592.4_Missense_Mutation_p.T437I NM_003705.4 NP_003696.2 O75746 CMC1_HUMAN solute carrier family 25 (aspartate/glutamate carrier), member 12 544 gluconeogenesis|malate-aspartate shuttle|response to calcium ion integral to membrane|mitochondrial inner membrane calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding p.T544I(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(117;0.216) L-Aspartic Acid(DB00128) CTGCAGTCTTGTCTTGATGAC 0.493000 10 21 0 0 0.435327 0 0 RRN3P2 653390 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-50-5944-01A-11D-1753-08 TCGA-50-5944-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx a314ee0c-694b-4ac8-b572-ff1fbbda4765 c84c2300-f61a-4475-800d-75efe77a7716 g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 3 44 0 0 0.217242 0 0 BAHCC1 57597 broad.mit.edu 37 17 79409981 79409981 + Missense_Mutation SNP C C T TCGA-50-5944-01A-11D-1753-08 TCGA-50-5944-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx a314ee0c-694b-4ac8-b572-ff1fbbda4765 c84c2300-f61a-4475-800d-75efe77a7716 g.chr17:79409981C>T ENST00000307745.7 + 9 1606 c.1606C>T c.(1606-1608)Cca>Tca p.P536S p.P536S(1) GGCCGGCCCCCCAGGGGCACA 0.692000 20 12 0 0 0.624587 0 0 SPAG4 6676 broad.mit.edu 37 20 34207180 34207180 + Nonsense_Mutation SNP G G A TCGA-50-5944-01A-11D-1753-08 TCGA-50-5944-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx a314ee0c-694b-4ac8-b572-ff1fbbda4765 c84c2300-f61a-4475-800d-75efe77a7716 g.chr20:34207180G>A ENST00000374273.3 + 9 969 c.857G>A c.(856-858)tGg>tAg p.W286* NM_003116.1 NP_003107.1 Q9NPE6 SPAG4_HUMAN sperm associated antigen 4 286 SUN. spermatogenesis cilium|flagellar axoneme|integral to membrane structural molecule activity p.W286*(1) NS(1)|cervix(5)|kidney(1)|large_intestine(3)|lung(10)|ovary(1) 21 Lung NSC(9;0.0053)|all_lung(11;0.00785) BRCA - Breast invasive adenocarcinoma(18;0.0127) GCCTACTTCTGGAATCGCTTC 0.597000 27 203 0 0 0.750413 0 0 C5orf51 285636 broad.mit.edu 37 5 41904478 41904478 + Silent SNP C C G TCGA-50-5944-01A-11D-1753-08 TCGA-50-5944-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx a314ee0c-694b-4ac8-b572-ff1fbbda4765 c84c2300-f61a-4475-800d-75efe77a7716 g.chr5:41904478C>G ENST00000381647.2 + 1 28 c.9C>G c.(7-9)gcC>gcG p.A3A C5orf51_ENST00000505931.2_Intron NM_175921.4 NP_787117.3 A6NDU8 CE051_HUMAN chromosome 5 open reading frame 51 3 p.A3A(1) endometrium(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 11 CCATGGCGGCCGCAGTCTCTA 0.662000 10 10 0 0 0.435327 0 0 WDFY3 23001 broad.mit.edu 37 4 85781638 85781638 + Missense_Mutation SNP C C T TCGA-50-5944-01A-11D-1753-08 TCGA-50-5944-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx a314ee0c-694b-4ac8-b572-ff1fbbda4765 c84c2300-f61a-4475-800d-75efe77a7716 g.chr4:85781638C>T ENST00000322366.6 - 4 514 c.107G>A c.(106-108)tGc>tAc p.C36Y WDFY3_ENST00000295888.4_Missense_Mutation_p.C36Y Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 36 cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding p.C36Y(1) breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) GGGAGGATGGCACAACTCCGT 0.557000 16 47 0 0 0.539581 0 0 HEPACAM2 253012 broad.mit.edu 37 7 92838013 92838013 + Missense_Mutation SNP G G A TCGA-50-5944-01A-11D-1753-08 TCGA-50-5944-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx a314ee0c-694b-4ac8-b572-ff1fbbda4765 c84c2300-f61a-4475-800d-75efe77a7716 g.chr7:92838013G>A ENST00000394468.2 - 4 969 c.892C>T c.(892-894)Cgc>Tgc p.R298C HEPACAM2_ENST00000440868.1_Missense_Mutation_p.R286C|HEPACAM2_ENST00000453812.2_Missense_Mutation_p.R321C|HEPACAM2_ENST00000341723.4_Missense_Mutation_p.R286C NM_001039372.1 NP_001034461.1 A8MVW5 HECA2_HUMAN HEPACAM family member 2 298 Ig-like C2-type 2. integral to membrane p.R286C(1)|p.R298C(1) breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1) 28 ACTTCTAAGCGAGGCCCATGC 0.448000 39 59 0 0 0.804634 0 0 XDH 7498 broad.mit.edu 37 2 31598368 31598368 + Silent SNP G G A TCGA-50-5944-01A-11D-1753-08 TCGA-50-5944-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx a314ee0c-694b-4ac8-b572-ff1fbbda4765 c84c2300-f61a-4475-800d-75efe77a7716 g.chr2:31598368G>A ENST00000379416.3 - 15 1528 c.1480C>T c.(1480-1482)Ctg>Ttg p.L494L NM_000379.3 NP_000370.2 P47989 XDH_HUMAN xanthine dehydrogenase 494 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity p.L494L(1) breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1) 74 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) GGCAGATGCAGCTCCTCTGCC 0.627000 22 26 0 0 0.608945 0 0 MMP27 64066 broad.mit.edu 37 11 102565801 102565801 + Silent SNP G G A TCGA-50-5944-01A-11D-1753-08 TCGA-50-5944-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx a314ee0c-694b-4ac8-b572-ff1fbbda4765 c84c2300-f61a-4475-800d-75efe77a7716 g.chr11:102565801G>A ENST00000260229.4 - 7 1021 c.930C>T c.(928-930)atC>atT p.I310I NM_022122.2 NP_071405.2 Q9H306 MMP27_HUMAN matrix metallopeptidase 27 310 Hemopexin-like 1. collagen catabolic process|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding p.I310I(1) NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176) BRCA - Breast invasive adenocarcinoma(274;0.0151) CAACATCCGTGATATCATAAT 0.388000 7 92 0 0 0.248553 0 0 SLCO1B1 10599 broad.mit.edu 37 12 21355464 21355464 + Missense_Mutation SNP T T C TCGA-50-5944-01A-11D-1753-08 TCGA-50-5944-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx a314ee0c-694b-4ac8-b572-ff1fbbda4765 c84c2300-f61a-4475-800d-75efe77a7716 g.chr12:21355464T>C ENST00000256958.2 + 10 1271 c.1175T>C c.(1174-1176)tTa>tCa p.L392S NM_006446.4 NP_006437.3 Q9Y6L6 SO1B1_HUMAN solute carrier organic anion transporter family, member 1B1 392 bile acid metabolic process|sodium-independent organic anion transport basolateral plasma membrane|integral to plasma membrane|membrane fraction bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity p.L392S(1) breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1) 70 Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175) GGAATGTTTTTAGGAGGATAT 0.289000 18 30 0 0 0.557998 0 0 EEF1B2 1933 broad.mit.edu 37 2 207025358 207025358 + Missense_Mutation SNP A A G TCGA-50-5944-01A-11D-1753-08 TCGA-50-5944-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx a314ee0c-694b-4ac8-b572-ff1fbbda4765 c84c2300-f61a-4475-800d-75efe77a7716 g.chr2:207025358A>G ENST00000392222.2 + 2 502 c.127A>G c.(127-129)Agc>Ggc p.S43G EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G|EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G NM_001959.3 NP_001950.1 P24534 EF1B_HUMAN eukaryotic translation elongation factor 1 beta 2 43 GST C-terminal. cytosol|eukaryotic translation elongation factor 1 complex protein binding|translation elongation factor activity p.S43G(4) breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6) 16 AGCCGTGTCCAGCCCACCGCC 0.468000 3 75 0 0 0.115264 0 0 PKD1L2 114780 broad.mit.edu 37 16 81151065 81151065 + RNA SNP G G T TCGA-50-5944-01A-11D-1753-08 TCGA-50-5944-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx a314ee0c-694b-4ac8-b572-ff1fbbda4765 c84c2300-f61a-4475-800d-75efe77a7716 g.chr16:81151065G>T ENST00000533478.1 - 0 4738 PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000534142.1_RNA NM_001278425.1 NP_001265354.1 Q7Z442 PK1L2_HUMAN polycystic kidney disease 1-like 2 neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 AGCTGGCCAGGATGATGGCCA 0.612000 41 50 1.00001e-27 1.2069e-27 0.847076 1 0 PPP6R3 55291 broad.mit.edu 37 11 68337296 68337296 + Silent SNP T T C TCGA-50-5944-01A-11D-1753-08 TCGA-50-5944-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx a314ee0c-694b-4ac8-b572-ff1fbbda4765 c84c2300-f61a-4475-800d-75efe77a7716 g.chr11:68337296T>C ENST00000393799.2 + 11 1476 c.1209T>C c.(1207-1209)ccT>ccC p.P403P PPP6R3_ENST00000529710.1_Silent_p.P352P|PPP6R3_ENST00000534534.1_Silent_p.P171P|PPP6R3_ENST00000527403.2_Silent_p.P403P|PPP6R3_ENST00000265637.4_Silent_p.P403P|PPP6R3_ENST00000393800.2_Silent_p.P403P|PPP6R3_ENST00000265636.5_Silent_p.P352P|PPP6R3_ENST00000524904.1_Silent_p.P403P|PPP6R3_ENST00000393801.3_Silent_p.P403P|PPP6R3_ENST00000524845.1_Silent_p.P403P Q5H9R7 PP6R3_HUMAN protein phosphatase 6, regulatory subunit 3 403 regulation of phosphoprotein phosphatase activity cytoplasm|nucleus protein phosphatase binding p.P352P(1)|p.P403P(1) breast(2)|endometrium(6)|kidney(3)|large_intestine(10)|liver(2)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 37 TTGCAAGTCCTTTTGAAAACA 0.333000 3 174 0 0 0.150653 0 0 MMP27 64066 broad.mit.edu 37 11 102565710 102565710 + Silent SNP G G A TCGA-50-5944-01A-11D-1753-08 TCGA-50-5944-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx a314ee0c-694b-4ac8-b572-ff1fbbda4765 c84c2300-f61a-4475-800d-75efe77a7716 g.chr11:102565710G>A ENST00000260229.4 - 7 1112 c.1021C>T c.(1021-1023)Ctg>Ttg p.L341L NM_022122.2 NP_071405.2 Q9H306 MMP27_HUMAN matrix metallopeptidase 27 341 Hemopexin-like 2. collagen catabolic process|proteolysis proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding p.L341L(1) NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176) BRCA - Breast invasive adenocarcinoma(274;0.0151) TTAAAAACCAGAATCTTATCT 0.428000 7 31 0 0 0.248553 0 0 CEP95 90799 broad.mit.edu 37 17 62504728 62504728 + Missense_Mutation SNP A A G TCGA-50-5944-01A-11D-1753-08 TCGA-50-5944-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx a314ee0c-694b-4ac8-b572-ff1fbbda4765 c84c2300-f61a-4475-800d-75efe77a7716 g.chr17:62504728A>G ENST00000556440.2 + 2 548 c.38A>G c.(37-39)aAt>aGt p.N13S CEP95_ENST00000581056.1_Missense_Mutation_p.N13S|CEP95_ENST00000553412.1_5'UTR NM_138363.1 NP_612372.1 Q96GE4 CEP95_HUMAN centrosomal protein 95kDa 13 centrosome|spindle pole protein binding p.N13S(2) endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1) 13 ACCATTGCCAATAACCTTCTT 0.348000 22 48 0 0 0.624587 0 0 MKLN1 4289 broad.mit.edu 37 7 131113849 131113849 + Missense_Mutation SNP C C T TCGA-50-5944-01A-11D-1753-08 TCGA-50-5944-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx a314ee0c-694b-4ac8-b572-ff1fbbda4765 c84c2300-f61a-4475-800d-75efe77a7716 g.chr7:131113849C>T ENST00000352689.6 + 9 945 c.905C>T c.(904-906)gCg>gTg p.A302V MKLN1_ENST00000421797.2_Missense_Mutation_p.A210V NM_013255.4 NP_037387.2 Q9UL63 MKLN1_HUMAN muskelin 1, intracellular mediator containing kelch motifs 302 signal transduction cytoplasm protein binding p.A302V(1) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 28 Melanoma(18;0.162) GACTTCTGGGCGTACAGTGTG 0.388000 9 80 0 0 0.361761 0 0 MED13 9969 broad.mit.edu 37 17 60040305 60040305 + Silent SNP G G T TCGA-50-5944-01A-11D-1753-08 TCGA-50-5944-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx a314ee0c-694b-4ac8-b572-ff1fbbda4765 c84c2300-f61a-4475-800d-75efe77a7716 g.chr17:60040305G>T ENST00000397786.2 - 21 4948 c.4872C>A c.(4870-4872)atC>atA p.I1624I NM_005121.2 NP_005112.2 Q9UHV7 MED13_HUMAN mediator complex subunit 13 1624 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding p.I1624I(1) breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 CATCTGTGGGGATTCCCACTT 0.388000 41 156 5.44703e-19 6.35487e-19 0.847076 1 0 ATRX 546 broad.mit.edu 37 X 76875916 76875916 + Nonsense_Mutation SNP G G T TCGA-50-5944-01A-11D-1753-08 TCGA-50-5944-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx a314ee0c-694b-4ac8-b572-ff1fbbda4765 c84c2300-f61a-4475-800d-75efe77a7716 g.chrX:76875916G>T ENST00000373344.5 - 20 5433 c.5219C>A c.(5218-5220)tCa>tAa p.S1740* ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.S1702* NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 1740 Helicase ATP-binding. DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.S1740*(2)|p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) CCTCCTCCTTGATCGTATAGA 0.333000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 8 43 1.12685e-05 1.19514e-05 0.307466 1 0 TP53BP2 7159 broad.mit.edu 37 1 223983555 223983555 + Missense_Mutation SNP G G A TCGA-50-5944-01A-11D-1753-08 TCGA-50-5944-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx a314ee0c-694b-4ac8-b572-ff1fbbda4765 c84c2300-f61a-4475-800d-75efe77a7716 g.chr1:223983555G>A ENST00000391878.2 - 14 3067 c.2299C>T c.(2299-2301)Cgc>Tgc p.R767C TP53BP2_ENST00000498843.1_5'UTR|TP53BP2_ENST00000391879.2_Missense_Mutation_p.R129C|TP53BP2_ENST00000343537.7_Missense_Mutation_p.R896C NM_005426.2 NP_005417.1 Q13625 ASPP2_HUMAN tumor protein p53 binding protein, 2 890 apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction nucleus|perinuclear region of cytoplasm NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity p.R896C(1)|p.R767C(1) NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2) 29 GBM - Glioblastoma multiforme(131;0.0958) TCAGGCGGGCGCATGCTCACC 0.537000 4 80 0 0 0.184627 0 0 CSMD3 114788 broad.mit.edu 37 8 113564858 113564858 + Missense_Mutation SNP C C A TCGA-50-5944-01A-11D-1753-08 TCGA-50-5944-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx a314ee0c-694b-4ac8-b572-ff1fbbda4765 c84c2300-f61a-4475-800d-75efe77a7716 g.chr8:113564858C>A ENST00000297405.5 - 26 4570 c.4326G>T c.(4324-4326)atG>atT p.M1442I CSMD3_ENST00000343508.3_Missense_Mutation_p.M1402I|CSMD3_ENST00000455883.2_Missense_Mutation_p.M1338I|CSMD3_ENST00000352409.3_Missense_Mutation_p.M1442I NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 1442 CUB 8. integral to membrane|plasma membrane p.M1442I(1)|p.M1402I(1) breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 CAATCATCCACATGCAACGCA 0.378000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 28 42 7.01153e-11 7.74959e-11 0.717897 1 0 PAK1IP1 55003 broad.mit.edu 37 6 10702848 10702848 + Nonsense_Mutation SNP C C A TCGA-50-5944-01A-11D-1753-08 TCGA-50-5944-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx a314ee0c-694b-4ac8-b572-ff1fbbda4765 c84c2300-f61a-4475-800d-75efe77a7716 g.chr6:10702848C>A ENST00000379568.3 + 4 710 c.419C>A c.(418-420)tCg>tAg p.S140* NM_017906.2 NP_060376.2 Q9NWT1 PK1IP_HUMAN PAK1 interacting protein 1 140 negative regulation of signal transduction nucleolus|plasma membrane p.S140Y(1) kidney(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1) 12 Ovarian(93;0.107)|Breast(50;0.137) all_hematologic(90;0.117) TTGGCCCTGTCGGTTGGTACA 0.408000 30 112 1.61788e-16 1.86678e-16 0.760397 1 0 TRUB2 26995 broad.mit.edu 37 9 131071839 131071839 + Missense_Mutation SNP G G A TCGA-50-5944-01A-11D-1753-08 TCGA-50-5944-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx a314ee0c-694b-4ac8-b572-ff1fbbda4765 c84c2300-f61a-4475-800d-75efe77a7716 g.chr9:131071839G>A ENST00000372890.4 - 8 1319 c.986C>T c.(985-987)gCg>gTg p.A329V TRUB2_ENST00000546104.1_Missense_Mutation_p.A273V NM_015679.1 NP_056494.1 O95900 TRUB2_HUMAN TruB pseudouridine (psi) synthase family member 2 329 pseudouridine synthesis|tRNA processing pseudouridine synthase activity|RNA binding p.A329V(1) kidney(2)|large_intestine(2)|lung(3)|ovary(1) 8 TCACTGCCCCGCACCCCTCTC 0.617000 9 26 0 0 0.335167 0 0 ZZEF1 23140 broad.mit.edu 37 17 3990763 3990763 + Silent SNP C C T TCGA-50-5944-01A-11D-1753-08 TCGA-50-5944-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx a314ee0c-694b-4ac8-b572-ff1fbbda4765 c84c2300-f61a-4475-800d-75efe77a7716 g.chr17:3990763C>T ENST00000381638.2 - 14 2431 c.2307G>A c.(2305-2307)caG>caA p.Q769Q ZZEF1_ENST00000574474.1_5'UTR NM_015113.3 NP_055928.3 O43149 ZZEF1_HUMAN zinc finger, ZZ-type with EF-hand domain 1 769 calcium ion binding|zinc ion binding p.Q769Q(1) 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 TCCAGAAGATCTGCAAATCAA 0.303000 8 41 0 0 0.335167 0 0 SYNE1 23345 broad.mit.edu 37 6 152671318 152671318 + Silent SNP T T C TCGA-50-5944-01A-11D-1753-08 TCGA-50-5944-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx a314ee0c-694b-4ac8-b572-ff1fbbda4765 c84c2300-f61a-4475-800d-75efe77a7716 g.chr6:152671318T>C ENST00000367255.5 - 72 12487 c.11886A>G c.(11884-11886)caA>caG p.Q3962Q SYNE1_ENST00000423061.1_Intron|SYNE1_ENST00000265368.4_Silent_p.Q3962Q|SYNE1_ENST00000448038.1_Intron|SYNE1_ENST00000341594.5_Silent_p.Q3886Q NM_182961.3 NP_892006.3 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 3962 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 p.Q3962Q(2) 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) GGTGGGCCAATTGCTGGGTGA 0.557000 HNSCC(10;0.0054) 9 41 0 0 0.361761 0 0 PSMC2 5701 broad.mit.edu 37 7 103006539 103006539 + Missense_Mutation SNP G G A TCGA-50-5944-01A-11D-1753-08 TCGA-50-5944-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx a314ee0c-694b-4ac8-b572-ff1fbbda4765 c84c2300-f61a-4475-800d-75efe77a7716 g.chr7:103006539G>A ENST00000435765.1 + 10 1184 c.773G>A c.(772-774)cGt>cAt p.R258H SLC26A5_ENST00000339444.6_Intron|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000356767.4_Intron|PSMC2_ENST00000292644.3_Missense_Mutation_p.R258H|PSMC2_ENST00000544811.1_Missense_Mutation_p.R121H NM_002803.3 NP_002794.1 P35998 PRS7_HUMAN proteasome (prosome, macropain) 26S subunit, ATPase, 2 258 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction mitochondrion|nucleus|proteasome complex ATP binding|ATPase activity|protein binding p.R258H(1) breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1) 21 CGAATGGTTCGTGAACTCTTT 0.313000 25 91 0 0 0.729181 0 0 FRMD8 83786 broad.mit.edu 37 11 65172387 65172387 + Missense_Mutation SNP C C T TCGA-50-5944-01A-11D-1753-08 TCGA-50-5944-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx a314ee0c-694b-4ac8-b572-ff1fbbda4765 c84c2300-f61a-4475-800d-75efe77a7716 g.chr11:65172387C>T ENST00000317568.5 + 10 1287 c.1124C>T c.(1123-1125)gCg>gTg p.A375V FRMD8_ENST00000416776.2_Missense_Mutation_p.A341V|FRMD8_ENST00000355991.5_Missense_Mutation_p.A319V NM_031904.3 NP_114110.1 Q9BZ67 FRMD8_HUMAN FERM domain containing 8 375 FERM. cytoskeleton binding p.A375V(1) NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|urinary_tract(1) 17 AGCCAGGCGGCGGAGCCCGCA 0.682000 7 37 0 0 0.335167 0 0 RSPRY1 89970 broad.mit.edu 37 16 57261295 57261295 + Frame_Shift_Del DEL T T - TCGA-50-5944-01A-11D-1753-08 TCGA-50-5944-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx a314ee0c-694b-4ac8-b572-ff1fbbda4765 c84c2300-f61a-4475-800d-75efe77a7716 g.chr16:57261295delT ENST00000537866.1 + 11 2076 c.1203delT c.(1201-1203)tafs p.Y401fs RSPRY1_ENST00000563073.1_3'UTR|RSPRY1_ENST00000394420.4_Frame_Shift_Del_p.Y401fs Q96DX4 RSPRY_HUMAN ring finger and SPRY domain containing 1 401 B30.2/SPRY. extracellular region zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3) 27 CCTGTGCGTATGATGGCTGCC 0.483 13 40 --- --- --- --- OR7G1 125962 broad.mit.edu 37 19 9226266 9226266 + Frame_Shift_Del DEL G G - TCGA-50-5944-01A-11D-1753-08 TCGA-50-5944-10A-01D-1753-08 Untested Somatic Phase_I WXS none Illumina GAIIx a314ee0c-694b-4ac8-b572-ff1fbbda4765 c84c2300-f61a-4475-800d-75efe77a7716 g.chr19:9226266delG ENST00000293614.1 - 1 173 c.174delC c.(172-174)ccfs p.P58fs OR7G1_ENST00000541538.1_Frame_Shift_Del_p.P58fs Q8NGA0 OR7G1_HUMAN olfactory receptor, family 7, subfamily G, member 1 58 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2) 20 GGAAGTACATGGGGGTGTGGA 0.483 53 38 --- --- --- ---