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 TBP 6908 broad.mit.edu 37 6 170871040 170871040 + Silent SNP A A G rs10592950 TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr6:170871040A>G ENST00000392092.2 + 3 495 c.216A>G c.(214-216)caA>caG p.Q72Q TBP_ENST00000230354.6_Silent_p.Q72Q|TBP_ENST00000540980.1_Silent_p.Q52Q NM_003194.4 NP_003185.1 P20226 TBP_HUMAN TATA box binding protein 72 Poly-Gln. cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction transcription factor TFIIA complex|transcription factor TFIID complex repressing transcription factor binding|transcription regulatory region DNA binding p.Q72del(3) breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1) 26 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591) agcagcagcaacagcaacagc 0.567000 4 79 0 0 1 0 0 BTN2A3P 0 broad.mit.edu 37 6 26422353 26422353 + RNA SNP C C T rs141013110 TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr6:26422353C>T ENST00000466808.2 + 0 7 p.P3S(2) GCTCATGGAACCAGCTGCTGC 0.622000 4 137 0 0 1 0 0 NUP153 9972 broad.mit.edu 37 6 17637615 17637615 + Missense_Mutation SNP A A C TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr6:17637615A>C ENST00000262077.2 - 16 2232 c.2233T>G c.(2233-2235)Tgt>Ggt p.C745G NUP153_ENST00000537253.1_Missense_Mutation_p.C776G NM_005124.2 NP_005115.2 P49790 NU153_HUMAN nucleoporin 153kDa 745 carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm DNA binding|protein binding|transporter activity|zinc ion binding NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2) 53 Breast(50;0.0259)|Ovarian(93;0.0584) all_hematologic(90;0.125) all cancers(50;0.0981)|Epithelial(50;0.112) GGTGTTTCACAGGCTACACAT 0.443000 42 116 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7577565 7577565 + Missense_Mutation SNP T T C TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr17:7577565T>C ENST00000420246.2 - 7 848 c.716A>G c.(715-717)aAc>aGc p.N239S TP53_ENST00000269305.4_Missense_Mutation_p.N239S|TP53_ENST00000359597.4_Missense_Mutation_p.N239S|TP53_ENST00000413465.2_Missense_Mutation_p.N239S|TP53_ENST00000445888.2_Missense_Mutation_p.N239S|TP53_ENST00000455263.2_Missense_Mutation_p.N239S NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 239 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity). N -> D (in sporadic cancers; somatic mutation).|N -> H (in a sporadic cancer; somatic mutation).|N -> I (in a sporadic cancer; somatic mutation).|N -> K (in sporadic cancers; somatic mutation).|N -> S (in sporadic cancers; somatic mutation).|N -> T (in sporadic cancers; somatic mutation).|N -> Y (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.N239S(28)|p.0?(8)|p.?(5)|p.N239T(4)|p.M237_N239delMCN(4)|p.N146S(3)|p.N239_C242delNSSC(3)|p.N239fs*25(2)|p.N239_S240delNS(2)|p.Y236_M243delYMCNSSCM(1)|p.N239fs*1(1)|p.N239_S240insN(1)|p.V225fs*23(1)|p.N239fs*6(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.M144_N146delMCN(1)|p.C238fs*21(1)|p.N239I(1)|p.H233fs*6(1)|p.N239*(1)|p.H233_C242del10(1)|p.N239_C242>S(1)|p.N239fs*>48(1)|p.N146fs*>10(1)|p.N239_C242del(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) GCAGGAACTGTTACACATGTA 0.572000 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) 59 4 0 0 1 0 0 ZNF518B 85460 broad.mit.edu 37 4 10445064 10445064 + Missense_Mutation SNP T T C TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr4:10445064T>C ENST00000326756.3 - 3 3327 c.2889A>G c.(2887-2889)atA>atG p.I963M NM_053042.2 NP_444270.2 Q9C0D4 Z518B_HUMAN zinc finger protein 518B 963 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1) 42 TGTATTTATTTATTACCTTCA 0.458000 4 77 0 0 1 0 0 PTPRF 5792 broad.mit.edu 37 1 44057543 44057543 + Nonsense_Mutation SNP C C A TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr1:44057543C>A ENST00000359947.4 + 10 1932 c.1592C>A c.(1591-1593)tCg>tAg p.S531* PTPRF_ENST00000438120.1_Nonsense_Mutation_p.S531*|PTPRF_ENST00000372413.3_Nonsense_Mutation_p.S531*|PTPRF_ENST00000372414.3_Nonsense_Mutation_p.S531*|PTPRF_ENST00000422171.2_De_novo_Start_OutOfFrame NM_002840.3 NP_002831.2 P10586 PTPRF_HUMAN protein tyrosine phosphatase, receptor type, F 531 Fibronectin type-III 3. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane transmembrane receptor protein tyrosine phosphatase activity NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3) 72 all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) ATCCAGCTCTCGTGGCTGCTG 0.632000 36 37 3.33393e-15 3.70437e-15 1 1 0 NUDT10 170685 broad.mit.edu 37 X 51076024 51076024 + Silent SNP G G A rs143435240 byFrequency TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chrX:51076024G>A ENST00000376006.3 + 2 427 c.207G>A c.(205-207)gaG>gaA p.E69E NUDT10_ENST00000356450.2_Silent_p.E69E NM_153183.2 NP_694853.1 Q8NFP7 NUD10_HUMAN nudix (nucleoside diphosphate linked moiety X)-type motif 10 69 Nudix hydrolase. cytoplasm diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding p.E69E(8) cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1) 16 Ovarian(276;0.236) TGTACGAAGAGGCGGGAGTCA 0.657000 3 38 0 0 1 0 0 CRLF1 9244 broad.mit.edu 37 19 18707437 18707437 + Missense_Mutation SNP C C T TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr19:18707437C>T ENST00000392386.3 - 6 1212 c.1019G>A c.(1018-1020)cGc>cAc p.R340H NM_004750.4 NP_004741.1 O75462 CRLF1_HUMAN cytokine receptor-like factor 1 340 negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein extracellular space cytokine binding|protein heterodimerization activity|receptor activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1) 9 CTCACCACTGCGGGGAGTGGA 0.552000 13 32 0 0 1 0 0 LPHN3 23284 broad.mit.edu 37 4 62845387 62845387 + Missense_Mutation SNP G G A TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr4:62845387G>A ENST00000512091.1 + 17 3455 c.2708G>A c.(2707-2709)cGg>cAg p.R903Q LPHN3_ENST00000514157.1_Missense_Mutation_p.R903Q|LPHN3_ENST00000509896.1_Missense_Mutation_p.R971Q|LPHN3_ENST00000504896.1_Missense_Mutation_p.R903Q|LPHN3_ENST00000507164.1_Missense_Mutation_p.R971Q|LPHN3_ENST00000508946.1_Missense_Mutation_p.R903Q|LPHN3_ENST00000506720.1_Missense_Mutation_p.R971Q|LPHN3_ENST00000514996.1_Missense_Mutation_p.R903Q|LPHN3_ENST00000507625.1_Missense_Mutation_p.R971Q|LPHN3_ENST00000514591.1_Missense_Mutation_p.R903Q|LPHN3_ENST00000511324.1_Missense_Mutation_p.R971Q|LPHN3_ENST00000506746.1_Missense_Mutation_p.R971Q|LPHN3_ENST00000545650.1_Missense_Mutation_p.R903Q|LPHN3_ENST00000508693.1_Missense_Mutation_p.R971Q|LPHN3_ENST00000506700.1_Missense_Mutation_p.R903Q Q9HAR2 LPHN3_HUMAN latrophilin 3 890 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|sugar binding breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1) 125 TGCTTTTTCCGGGGGCTCCAG 0.493000 76 75 0 0 1 0 0 OR4C12 283093 broad.mit.edu 37 11 50003749 50003749 + Missense_Mutation SNP C C A TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr11:50003749C>A ENST00000335238.4 - 1 322 c.289G>T c.(289-291)Gct>Tct p.A97S NM_001005270.2 NP_001005270.1 Q96R67 OR4CC_HUMAN olfactory receptor, family 4, subfamily C, member 12 97 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 36 TAGGCTTGAGCCATACACCCA 0.423000 32 83 3.99451e-17 4.49382e-17 1 1 0 NRG1 3084 broad.mit.edu 37 8 32616940 32616940 + Missense_Mutation SNP G G T TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr8:32616940G>T ENST00000338921.4 + 11 1588 c.1071G>T c.(1069-1071)caG>caT p.Q357H NRG1_ENST00000521670.1_Missense_Mutation_p.Q349H|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000405005.2_Missense_Mutation_p.Q349H|NRG1_ENST00000287845.5_Missense_Mutation_p.Q320H|NRG1_ENST00000287840.5_Missense_Mutation_p.Q349H|NRG1_ENST00000287842.3_Missense_Mutation_p.Q346H|NRG1_ENST00000539990.1_Missense_Mutation_p.Q192H|NRG1_ENST00000519301.1_Missense_Mutation_p.Q299H|NRG1_ENST00000523079.1_Missense_Mutation_p.Q346H|NRG1_ENST00000356819.4_Missense_Mutation_p.Q354H Q02297 NRG1_HUMAN neuregulin 1 349 activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1) 39 Breast(100;0.203) KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943) CTGTCACCCAGACTCCTAGCC 0.448000 20 66 9.7654e-05 0.000102196 1 1 0 TRPC1 7220 broad.mit.edu 37 3 142443429 142443429 + Missense_Mutation SNP G G T TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr3:142443429G>T ENST00000273482.6 + 1 419 c.28G>T c.(28-30)Gac>Tac p.D10Y TRPC1_ENST00000476941.1_Missense_Mutation_p.D10Y NM_003304.4 NP_003295.1 P48995 TRPC1_HUMAN transient receptor potential cation channel, subfamily C, member 1 10 axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion cytosol|integral to plasma membrane protein binding|store-operated calcium channel activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1) 37 CCCGAGCACGGACCTCTCGGG 0.716000 9 21 0.0477658 0.0477658 1 1 0 ERBB3 2065 broad.mit.edu 37 12 56482341 56482341 + Missense_Mutation SNP G G T TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr12:56482341G>T ENST00000267101.3 + 8 1329 c.889G>T c.(889-891)Gat>Tat p.D297Y ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_Missense_Mutation_p.D238Y NM_001982.3 NP_001973.2 P21860 ERBB3_HUMAN v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3 297 cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity p.D297Y(1) central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) CTTTGTGGTGGATCAAACATC 0.512000 76 191 5.94106e-25 6.7683e-25 1 1 0 ACADS 35 broad.mit.edu 37 12 121174898 121174898 + Missense_Mutation SNP G G A TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr12:121174898G>A ENST00000242592.4 + 3 471 c.320G>A c.(319-321)cGt>cAt p.R107H ACADS_ENST00000411593.2_Missense_Mutation_p.R107H NM_000017.2 NP_000008.1 P16219 ACADS_HUMAN acyl-CoA dehydrogenase, C-2 to C-3 short chain 107 R -> C (in ACADSD). mitochondrial matrix butyryl-CoA dehydrogenase activity central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3) 14 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) Lung NSC(355;0.163) NADH(DB00157) GAGATCAGCCGTGGCTGCGCC 0.672000 3 1 0 0 1 0 0 NPY2R 4887 broad.mit.edu 37 4 156135433 156135433 + Silent SNP G G A TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr4:156135433G>A ENST00000329476.3 + 2 831 c.342G>A c.(340-342)ggG>ggA p.G114G NPY2R_ENST00000506608.1_Silent_p.G114G NM_000910.2 NP_000901.1 P49146 NPY2R_HUMAN neuropeptide Y receptor Y2 114 cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis integral to plasma membrane calcium channel regulator activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1) 36 all_hematologic(180;0.24) Renal(120;0.0854) CCTTAATGGGGGAGTGGAAAA 0.507000 20 19 0 0 1 0 0 IL1R2 7850 broad.mit.edu 37 2 102632493 102632493 + Missense_Mutation SNP G G C TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr2:102632493G>C ENST00000332549.3 + 4 722 c.493G>C c.(493-495)Gtg>Ctg p.V165L IL1R2_ENST00000441002.1_Missense_Mutation_p.V165L|IL1R2_ENST00000393414.2_Missense_Mutation_p.V165L NM_004633.3 NP_004624.1 P27930 IL1R2_HUMAN interleukin 1 receptor, type II 165 Ig-like C2-type 2. immune response integral to membrane|plasma membrane interleukin-1, Type II, blocking receptor activity breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1) 28 Anakinra(DB00026) CAAAACTGACGTGAAGATTCA 0.373000 11 40 0 0 1 0 0 NBPF10 100132406 broad.mit.edu 37 1 145367767 145367767 + Missense_Mutation SNP G G A rs77484671 TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr1:145367767G>A ENST00000342960.5 + 83 10398 c.10363G>A c.(10363-10365)Gaa>Aaa p.E3455K NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron NM_001039703.4 NP_001034792.4 A6NDV3 A6NDV3_HUMAN neuroblastoma breakpoint family, member 10 3455 p.E3455K(5) 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) atcaaagaaggaaagaagaag 0.423000 5 74 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A rs104886003 TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr3:178936091G>A ENST00000263967.3 + 10 1790 c.1633G>A c.(1633-1635)Gag>Aag p.E545K NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 545 PI3K helical. E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.E545K(881)|p.E545Q(18) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) TGAAATCACTGAGCAGGAGAA 0.353000 E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS) 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 13 36 0 0 1 0 0 SYBU 55638 broad.mit.edu 37 8 110590123 110590123 + Silent SNP C C T TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr8:110590123C>T ENST00000399066.3 - 5 1576 c.849G>A c.(847-849)aaG>aaA p.K283K SYBU_ENST00000532779.1_Silent_p.K218K|SYBU_ENST00000529690.1_Silent_p.K156K|SYBU_ENST00000527707.1_5'UTR|SYBU_ENST00000424158.2_Silent_p.K291K|SYBU_ENST00000433638.1_Silent_p.K286K|SYBU_ENST00000408908.2_Silent_p.K286K|SYBU_ENST00000440310.1_Silent_p.K286K|SYBU_ENST00000528331.1_Silent_p.K167K|SYBU_ENST00000408889.3_Silent_p.K167K|SYBU_ENST00000533895.1_Silent_p.K285K|SYBU_ENST00000533065.1_Silent_p.K167K|SYBU_ENST00000446070.2_Silent_p.K285K|SYBU_ENST00000533171.1_Silent_p.K286K|SYBU_ENST00000276646.9_Silent_p.K286K|SYBU_ENST00000529175.1_Silent_p.K80K|SYBU_ENST00000528647.1_Silent_p.K285K|SYBU_ENST00000422135.1_Silent_p.K286K|SYBU_ENST00000419099.1_Silent_p.K285K NM_001099756.1 NP_001093226.1 Q9NX95 SYBU_HUMAN syntabulin (syntaxin-interacting) 286 Sufficient for interaction with KIF5B. cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1) 30 GCTCAGATTCCTTCAGCTTGG 0.478000 48 122 0 0 1 0 0 GPRC5D 55507 broad.mit.edu 37 12 13103268 13103268 + Silent SNP G G A TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr12:13103268G>A ENST00000228887.1 - 1 50 c.51C>T c.(49-51)gaC>gaT p.D17D GPRC5D_ENST00000396333.3_Silent_p.D17D|RP11-392P7.6_ENST00000536029.1_RNA|RP11-392P7.6_ENST00000542078.1_RNA|RP11-392P7.6_ENST00000545914.1_RNA|RP11-392P7.6_ENST00000394742.3_RNA|RP11-392P7.6_ENST00000540198.1_RNA|RP11-392P7.6_ENST00000543515.2_RNA NM_018654.1 NP_061124.1 Q9NZD1 GPC5D_HUMAN G protein-coupled receptor, family C, group 5, member D 17 integral to membrane|plasma membrane G-protein coupled receptor activity kidney(2)|large_intestine(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 9 Prostate(47;0.183) BRCA - Breast invasive adenocarcinoma(232;0.15) GCCCCTCGGCGTCACAGAGAA 0.507000 33 95 0 0 1 0 0 FAM161B 145483 broad.mit.edu 37 14 74407730 74407730 + Silent SNP G G A TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr14:74407730G>A ENST00000286544.3 - 5 1686 c.1488C>T c.(1486-1488)ccC>ccT p.P496P FAM161B_ENST00000534936.1_Silent_p.P433P NM_152445.2 NP_689658.2 family with sequence similarity 161, member B breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2) 21 TCCTTGGCAGGGGTGTAGCTG 0.478000 24 73 0 0 1 0 0 SLC7A13 157724 broad.mit.edu 37 8 87229900 87229900 + Silent SNP T T G TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr8:87229900T>G ENST00000297524.3 - 3 1081 c.978A>C c.(976-978)ctA>ctC p.L326L SLC7A13_ENST00000419776.2_Silent_p.L317L|SLC7A13_ENST00000520624.1_5'UTR NM_138817.2 NP_620172.2 Q8TCU3 S7A13_HUMAN solute carrier family 7 (anionic amino acid transporter), member 13 326 integral to membrane amino acid transmembrane transporter activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 45 GTGTATTAAATAGCAAAGGCA 0.358000 6 146 0 0 1 0 0 MUC5B 727897 broad.mit.edu 37 11 1268462 1268462 + Missense_Mutation SNP C C T TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr11:1268462C>T ENST00000447027.1 + 31 10419 c.10361C>T c.(10360-10362)aCg>aTg p.T3454M MUC5B_ENST00000529681.1_Missense_Mutation_p.T3451M|RP11-532E4.2_ENST00000532061.2_RNA Q9HC84 MUC5B_HUMAN mucin 5B, oligomeric mucus/gel-forming 3451 17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich. Missing (in Ref. 6; AAB61398). cell adhesion extracellular region extracellular matrix structural constituent|protein binding cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CCGAACACCACGGCCACCACA 0.687000 11 55 0 0 1 0 0 DEFB112 245915 broad.mit.edu 37 6 50011295 50011295 + Missense_Mutation SNP C C T TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr6:50011295C>T ENST00000322246.4 - 2 334 c.335G>A c.(334-336)cGt>cAt p.R112H NM_001037498.1 NP_001032587.1 Q30KQ8 DB112_HUMAN defensin, beta 112 112 defense response to bacterium extracellular region central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 19 Lung NSC(77;0.042) TCTTCAATGACGTGAGTCTTT 0.403000 10 15 0 0 1 0 0 TMEM173 340061 broad.mit.edu 37 5 138860776 138860776 + Missense_Mutation SNP A A T TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr5:138860776A>T ENST00000330794.4 - 4 712 c.379T>A c.(379-381)Tcg>Acg p.S127T TMEM173_ENST00000511850.1_5'UTR NM_198282.2 NP_938023.1 Q86WV6 TM173_HUMAN transmembrane protein 173 127 activation of innate immune response|apoptosis|cellular response to exogenous dsRNA|defense response to virus|innate immune response|interferon-beta production|positive regulation of defense response to virus by host|positive regulation of protein binding|positive regulation of protein import into nucleus, translocation|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane|perinuclear region of cytoplasm|plasma membrane protein homodimerization activity|protein kinase binding|transcription factor binding endometrium(1)|kidney(1)|lung(6)|upper_aerodigestive_tract(1) 9 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) AGTGCCTGCGAGAGGCCCAGG 0.622000 36 42 0 0 1 0 0 GTF2IRD2P1 0 broad.mit.edu 37 7 72663998 72663998 + RNA SNP T T G TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr7:72663998T>G ENST00000425256.1 - 0 902 NR_002164.1 ATAGCCGGGGTCCTTGAATAC 0.488000 4 79 0 0 1 0 0 PDIA4 9601 broad.mit.edu 37 7 148701262 148701262 + Missense_Mutation SNP T T G TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr7:148701262T>G ENST00000286091.4 - 10 1794 c.1562A>C c.(1561-1563)aAg>aCg p.K521T NM_004911.4 NP_004902.1 P13667 PDIA4_HUMAN protein disulfide isomerase family A, member 4 521 Thioredoxin 3. cell redox homeostasis|glycerol ether metabolic process|protein secretion endoplasmic reticulum lumen|melanosome electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity large_intestine(6)|lung(15)|ovary(2)|prostate(1) 24 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00385) CTTGTTGTTCTTGGGCACTGG 0.562000 5 174 0 0 1 0 0 CDK5RAP2 55755 broad.mit.edu 37 9 123169430 123169430 + Missense_Mutation SNP C C T TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr9:123169430C>T ENST00000349780.4 - 32 5002 c.4823G>A c.(4822-4824)aGc>aAc p.S1608N CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.S1567N|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.S1576N|CDK5RAP2_ENST00000360190.4_Intron NM_018249.4 NP_060719.4 Q96SN8 CK5P2_HUMAN CDK5 regulatory subunit associated protein 2 1608 brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1) 58 GGTTTCGATGCTCCTTTCTAG 0.602000 25 38 0 0 1 0 0 PDIA4 9601 broad.mit.edu 37 7 148702238 148702238 + Missense_Mutation SNP T T C TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr7:148702238T>C ENST00000286091.4 - 9 1749 c.1517A>G c.(1516-1518)aAa>aGa p.K506R NM_004911.4 NP_004902.1 P13667 PDIA4_HUMAN protein disulfide isomerase family A, member 4 506 Thioredoxin 3. cell redox homeostasis|glycerol ether metabolic process|protein secretion endoplasmic reticulum lumen|melanosome electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity large_intestine(6)|lung(15)|ovary(2)|prostate(1) 24 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00385) CTCACCTTTTTTGAAAGCAGT 0.607000 62 162 0 0 1 0 0 SSPO 23145 broad.mit.edu 37 7 149497429 149497429 + RNA SNP C C T TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr7:149497429C>T ENST00000378016.2 + 0 7187 A2VEC9 SSPO_HUMAN SCO-spondin cell adhesion extracellular space peptidase inhibitor activity Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CCCGGCCAGACGCCCTGTGAG 0.687000 10 19 0 0 1 0 0 CCDC104 112942 broad.mit.edu 37 2 55771473 55771473 + Missense_Mutation SNP G G C TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr2:55771473G>C ENST00000349456.4 + 9 1043 c.895G>C c.(895-897)Gag>Cag p.E299Q CCDC104_ENST00000407816.3_Missense_Mutation_p.E270Q|CCDC104_ENST00000339012.3_Missense_Mutation_p.E324Q Q96G28 CC104_HUMAN coiled-coil domain containing 104 299 breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(2)|lung(1)|ovary(2) 14 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) ACAAAATATGGAGCAGAAAGG 0.398000 35 47 0 0 1 0 0 C17orf97 400566 broad.mit.edu 37 17 263136 263136 + Missense_Mutation SNP G G A TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr17:263136G>A ENST00000360127.6 + 2 518 c.502G>A c.(502-504)Gaa>Aaa p.E168K C17orf97_ENST00000571106.1_Intron|AC108004.3_ENST00000466740.2_RNA NM_001013672.4 NP_001013694.4 Q6ZQX7 CQ097_HUMAN chromosome 17 open reading frame 97 168 breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1) 14 TCGGATCAACGAAAGTCTGCG 0.517000 81 34 0 0 1 0 0 CROCCP2 0 broad.mit.edu 37 1 16955128 16955128 + RNA SNP A A G rs1762949 by1000genomes TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr1:16955128A>G ENST00000412962.1 - 0 311 CAGGCTGTGGACCAGGTTGCT 0.682000 5 32 0 0 1 0 0 BSN 8927 broad.mit.edu 37 3 49694637 49694637 + Missense_Mutation SNP C C T rs150764510 by1000genomes TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr3:49694637C>T ENST00000296452.4 + 5 7762 c.7648C>T c.(7648-7650)Cgt>Tgt p.R2550C NM_003458.3 NP_003449.2 Q9UPA5 BSN_HUMAN bassoon presynaptic cytomatrix protein 2550 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) GGAGGCCAGCCGTAGTGGCAT 0.627000 23 30 0 0 1 0 0 CHRM3 1131 broad.mit.edu 37 1 240070975 240070975 + Missense_Mutation SNP C C T TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr1:240070975C>T ENST00000255380.4 + 5 1003 c.224C>T c.(223-225)aCg>aTg p.T75M NM_000740.2 NP_000731.1 P20309 ACM3_HUMAN cholinergic receptor, muscarinic 3 75 cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1) 51 Ovarian(103;0.127) all_cancers(173;0.00567)|all_neural(198;0.203) OV - Ovarian serous cystadenocarcinoma(106;0.00989) Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505) GCTTTCTTAACGGGCATCCTG 0.507000 23 71 0 0 1 0 0 SCYL1 57410 broad.mit.edu 37 11 65302778 65302778 + Silent SNP C C T TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr11:65302778C>T ENST00000524944.1 + 10 1344 c.1311C>T c.(1309-1311)gcC>gcT p.A437A SCYL1_ENST00000270176.5_Silent_p.A437A|SCYL1_ENST00000525364.1_Silent_p.A437A|SCYL1_ENST00000533862.1_Silent_p.A437A|SCYL1_ENST00000279270.6_Silent_p.A437A|SCYL1_ENST00000420247.2_Silent_p.A437A|SCYL1_ENST00000527630.1_Silent_p.A437A|SCYL1_ENST00000527009.1_Silent_p.A294A Q96KG9 NTKL_HUMAN SCY1-like 1 (S. cerevisiae) 437 regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus ATP binding|DNA binding|protein tyrosine kinase activity ovary(1)|skin(1) 2 GGCTACAGGCCAAGGATGAAC 0.577000 58 255 0 0 1 0 0 BMS1 9790 broad.mit.edu 37 10 43317508 43317508 + Splice_Site SNP A A G TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr10:43317508A>G ENST00000374518.4 + 19 3072 c.e19-1 NM_014753.3 NP_055568.3 Q14692 BMS1_HUMAN BMS1 ribosome biogenesis factor ribosome assembly nucleolus ATP binding|GTP binding|GTPase activity NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 62 GGTTCCTGTTAGCCTGATTTT 0.308000 16 57 0 0 1 0 0 SRM 6723 broad.mit.edu 37 1 11115122 11115122 + Missense_Mutation SNP G G A TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr1:11115122G>A ENST00000376957.2 - 7 865 c.785C>T c.(784-786)cCg>cTg p.P262L NM_003132.2 NP_003123.2 P19623 SPEE_HUMAN spermidine synthase 262 spermidine biosynthetic process cytosol protein homodimerization activity|spermidine synthase activity large_intestine(1)|lung(1)|urinary_tract(1) 3 Ovarian(185;0.249) Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) STAD - Stomach adenocarcinoma(5;0.228) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192) S-Adenosylmethionine(DB00118)|Spermine(DB00127) CGGCTGCACCGGCTCCTGGAA 0.602000 30 62 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195510996 195510996 + Silent SNP G G A TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr3:195510996G>A ENST00000463781.3 - 2 7914 c.7455C>T c.(7453-7455)gaC>gaT p.D2485D MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Silent_p.D2485D|MUC4_ENST00000346145.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 243 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) CTGACGAAGCGTCGGTGACAA 0.582000 4 18 0 0 1 0 0 KRTAP4-6 81871 broad.mit.edu 37 17 39296167 39296167 + Silent SNP A A G TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr17:39296167A>G ENST00000345847.4 - 1 572 c.573T>C c.(571-573)atT>atC p.I191I NM_030976.1 NP_112238.1 Q9BYQ5 KRA46_HUMAN keratin associated protein 4-6 187 keratin filament endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1) 9 GGCAGGTGGAAATGACACAGG 0.627000 3 17 0 0 1 0 0 DVL1 1855 broad.mit.edu 37 1 1273765 1273765 + Missense_Mutation SNP C C T TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr1:1273765C>T ENST00000378888.5 - 13 1675 c.1391G>A c.(1390-1392)cGg>cAg p.R464Q DVL1_ENST00000378891.5_Missense_Mutation_p.R439Q O14640 DVL1_HUMAN dishevelled segment polarity protein 1 464 DEP. canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome frizzled binding|identical protein binding|protein kinase binding|signal transducer activity endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 13 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128) Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) GGCCTCCCGCCGCTCCTTGAA 0.657000 20 41 0 0 1 0 0 ITPKA 3706 broad.mit.edu 37 15 41794651 41794651 + Missense_Mutation SNP C C G TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr15:41794651C>G ENST00000260386.5 + 5 1113 c.1060C>G c.(1060-1062)Cag>Gag p.Q354E NM_002220.2 NP_002211.1 P23677 IP3KA_HUMAN inositol-trisphosphate 3-kinase A 354 signal transduction ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity kidney(1)|lung(3)|skin(1) 5 all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172) OV - Ovarian serous cystadenocarcinoma(18;7.63e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113) AAGCCGAGAGCAGGTGCTTCG 0.617000 28 43 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G rs121913279 TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr3:178952085A>G ENST00000263967.3 + 21 3297 c.3140A>G c.(3139-3141)cAt>cGt p.H1047R NM_006218.2 NP_006209.2 P42336 PK3CA_HUMAN phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha 1047 PI3K/PI4K. H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.H1047R(1387)|p.H1047L(194)|p.H1047P(1) NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208) 5269 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) AATGATGCACATCATGGTGGC 0.378000 H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST) 57 Mis """colorectal, gastric, gliobastoma, breast""" HNSCC(19;0.045)|TSP Lung(28;0.18) 10 77 0 0 1 0 0 ACTA1 58 broad.mit.edu 37 1 229568733 229568733 + Splice_Site SNP C C A TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr1:229568733C>A ENST00000366684.3 - 2 232 c.e2+1 ACTA1_ENST00000366683.2_Splice_Site NM_001100.3 NP_001091.1 P68133 ACTS_HUMAN actin, alpha 1, skeletal muscle muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly actin filament|cytosol|stress fiber|striated muscle thin filament ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1) 28 Breast(184;0.0858)|Ovarian(103;0.103) Prostate(94;0.167) Dornase Alfa(DB00003) GGCAGCCTGACCTGGTGTCGG 0.721000 20 61 8.10497e-08 8.78852e-08 1 1 0 IFFO1 25900 broad.mit.edu 37 12 6664977 6664977 + Silent SNP G G A TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr12:6664977G>A ENST00000336604.4 - 1 260 c.219C>T c.(217-219)aaC>aaT p.N73N IFFO1_ENST00000396840.2_Silent_p.N73N|IFFO1_ENST00000356896.4_Silent_p.N73N NM_080730.4 NP_542768.2 Q0D2I5 IFFO1_HUMAN intermediate filament family orphan 1 73 intermediate filament p.N73K(1) central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1) 20 GCACGTTGATGTTGGAGCCCA 0.706000 14 63 0 0 1 0 0 LRRN2 10446 broad.mit.edu 37 1 204588977 204588977 + Silent SNP G G A TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr1:204588977G>A ENST00000367175.1 - 1 2356 c.144C>T c.(142-144)cgC>cgT p.R48R LRRN2_ENST00000367177.3_Silent_p.R48R|LRRN2_ENST00000367176.3_Silent_p.R48R O75325 LRRN2_HUMAN leucine rich repeat neuronal 2 48 LRRNT. cell adhesion integral to membrane receptor activity central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 38 all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19) KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143) TGGTAGCCTCGCGGTAGGACG 0.657000 23 77 0 0 1 0 0 TH 7054 broad.mit.edu 37 11 2186489 2186489 + Missense_Mutation SNP C C T TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr11:2186489C>T ENST00000381178.1 - 13 1418 c.1400G>A c.(1399-1401)aGc>aAc p.S467N TH_ENST00000381175.1_Missense_Mutation_p.S463N|TH_ENST00000333684.5_Missense_Mutation_p.S346N|TH_ENST00000352909.3_Missense_Mutation_p.S436N NM_199292.2 NP_954986.2 P07101 TY3H_HUMAN tyrosine hydroxylase 467 dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum protein binding|tyrosine 3-monooxygenase activity NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1) 11 all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416) Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239) BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154) L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360) GTCACTGAAGCTCTCAGACAC 0.622000 6 85 0 0 1 0 0 HLA-E 3133 broad.mit.edu 37 6 30457613 30457613 + Missense_Mutation SNP A A G TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr6:30457613A>G ENST00000376630.4 + 2 240 c.175A>G c.(175-177)Aac>Gac p.N59D NM_005516.5 NP_005507.3 P13747 HLAE_HUMAN major histocompatibility complex, class I, E 59 Alpha-1. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway integral to membrane|MHC class I protein complex MHC class I receptor activity breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(2)|lung(1)|ovary(3)|skin(1)|urinary_tract(1) 18 GCGCTTCGACAACGACGCCGC 0.672000 32 87 0 0 1 0 0 YPEL4 219539 broad.mit.edu 37 11 57413796 57413796 + Missense_Mutation SNP A A G TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr11:57413796A>G ENST00000524669.1 - 4 2990 c.268T>C c.(268-270)Tgc>Cgc p.C90R YPEL4_ENST00000544993.1_Missense_Mutation_p.C90R|YPEL4_ENST00000534711.1_Missense_Mutation_p.C90R|YPEL4_ENST00000300022.3_Missense_Mutation_p.C90R|AP000662.4_ENST00000530595.1_RNA Q96NS1 YPEL4_HUMAN yippee-like 4 (Drosophila) 90 nucleolus lung(2)|skin(1) 3 GTGGTTTTGCAGCTCTCACAG 0.557000 16 25 0 0 1 0 0 LAMB2 3913 broad.mit.edu 37 3 49167320 49167320 + Missense_Mutation SNP G G C TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr3:49167320G>C ENST00000418109.1 - 11 1521 c.1357C>G c.(1357-1359)Cgt>Ggt p.R453G LAMB2_ENST00000305544.4_Missense_Mutation_p.R453G NM_002292.3 NP_002283.3 P55268 LAMB2_HUMAN laminin, beta 2 (laminin S) 453 Laminin EGF-like 3. cell adhesion laminin-11 complex|laminin-3 complex structural molecule activity NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 61 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) AAGCCATCACGGCATTGCTGG 0.582000 5 165 0 0 1 0 0 MOGAT2 80168 broad.mit.edu 37 11 75438615 75438615 + Missense_Mutation SNP C C T rs142019515 byFrequency TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr11:75438615C>T ENST00000526712.1 + 2 933 c.160C>T c.(160-162)Cgc>Tgc p.R54C MOGAT2_ENST00000198801.5_Missense_Mutation_p.R136C Q3SYC2 MOGT2_HUMAN monoacylglycerol O-acyltransferase 2 136 glycerol metabolic process endoplasmic reticulum membrane|integral to membrane 2-acylglycerol O-acyltransferase activity NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1) 20 Ovarian(111;0.103) CCCCGGTATCCGCCCCCATCT 0.572000 148 58 0 0 1 0 0 RP11-142C4.6 0 broad.mit.edu 37 11 58746382 58746382 + RNA SNP G G T TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr11:58746382G>T ENST00000533954.1 - 0 754 RP11-142C4.6_ENST00000532098.1_RNA|RP11-142C4.6_ENST00000525714.1_RNA NR_033853.1 GTCCCTGAAGGTGAGGGAACA 0.433000 7 2 2.0095e-06 2.15303e-06 1 1 0 MT-CYB 4519 broad.mit.edu 37 MT 15374 15374 + Missense_Mutation SNP G G A TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chrM:15374G>A ENST00000361789.2 + 1 628 c.628G>A c.(628-630)Gga>Aga p.210_210insR mitochondrially encoded cytochrome b breast(6)|endometrium(25)|kidney(33)|prostate(1) 65 ACAACCCCCTAGGAATCACCT 0.453000 OREG0007583 type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS) 17 250 0 0 1 0 0 PRRX2 51450 broad.mit.edu 37 9 132481518 132481518 + Missense_Mutation SNP C C T TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr9:132481518C>T ENST00000372469.4 + 2 495 c.268C>T c.(268-270)Ccc>Tcc p.P90S NM_016307.3 NP_057391.1 Q99811 PRRX2_HUMAN paired related homeobox 2 90 P -> S (in Ref. 5; AAB39864). nuclear chromosome sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity lung(2)|pancreas(1) 3 Ovarian(14;0.00556) AGGTGAGTGTCCCAGCCCGGG 0.657000 9 7 0 0 1 0 0 OVCH1 341350 broad.mit.edu 37 12 29624754 29624754 + Missense_Mutation SNP C C T TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr12:29624754C>T ENST00000318184.5 - 16 1836 c.1837G>A c.(1837-1839)Gca>Aca p.A613T OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron NM_183378.2 NP_899234.2 Q7RTY7 OVCH1_HUMAN ovochymase 1 613 Peptidase S1 2. proteolysis extracellular region metal ion binding|serine-type endopeptidase activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3) 92 Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155) CAGTGGGCTGCGGTCAGAATC 0.493000 4 25 0 0 1 0 0 PCDHA12 0 broad.mit.edu 37 5 140257222 140257222 + Missense_Mutation SNP G G A TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr5:140257222G>A ENST00000398631.2 + 1 2165 c.2165G>A c.(2164-2166)cGt>cAt p.R722H PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron NM_018903.2|NM_031864.1 NP_061726.1|NP_114070.1 NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ACTGCGCTGCGTTGCTCAGCG 0.657000 31 43 0 0 1 0 0 RBM28 55131 broad.mit.edu 37 7 127958088 127958088 + Silent SNP C C T TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr7:127958088C>T ENST00000223073.1 - 15 1749 c.1635G>A c.(1633-1635)gcG>gcA p.A545A RBM28_ENST00000481788.1_Intron|RBM28_ENST00000415472.2_Silent_p.A404A NM_018077.2 NP_060547.2 Q9NW13 RBM28_HUMAN RNA binding motif protein 28 545 RRM 4. mRNA processing|RNA splicing Golgi apparatus|nucleolus|spliceosomal complex nucleotide binding|RNA binding breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2) 21 CTTGGAACTCCGCAAAGGCGT 0.512000 15 28 0 0 1 0 0 COL15A1 1306 broad.mit.edu 37 9 101748168 101748168 + Missense_Mutation SNP C C G TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr9:101748168C>G ENST00000375001.3 + 3 845 c.422C>G c.(421-423)cCa>cGa p.P141R NM_001855.3 NP_001846.3 P39059 COFA1_HUMAN collagen, type XV, alpha 1 141 TSP N-terminal. angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 107 Acute lymphoblastic leukemia(62;0.0562) TACACGGAGCCAGGCTCCCAT 0.607000 11 86 0 0 1 0 0 FBXW7 0 broad.mit.edu 37 4 153249385 153249385 + Missense_Mutation SNP G G A TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr4:153249385G>A ENST00000281708.4 - 9 2622 c.1393C>T c.(1393-1395)Cgt>Tgt p.R465C FBXW7_ENST00000603548.1_Missense_Mutation_p.R465C|FBXW7_ENST00000296555.5_Missense_Mutation_p.R347C|FBXW7_ENST00000263981.5_Missense_Mutation_p.R385C|FBXW7_ENST00000603841.1_Missense_Mutation_p.R465C|FBXW7_ENST00000393956.3_Missense_Mutation_p.R289C NM_033632.3 NP_361014.1 Q969H0 FBXW7_HUMAN F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase 465 R -> C (in a acute lymphoblastic leukemia cell line).|R -> H (in a colorectal cancer sample; somatic mutation). interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development nucleolus|nucleoplasm|SCF ubiquitin ligase complex protein binding p.R465C(71)|p.R226C(11)|p.R385C(11)|p.R347C(3)|p.R465Y(2)|p.?(1) NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6) 462 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067) TGCATACAACGCACAGTGGAA 0.413000 """Mis, N, D, F""" """colorectal, endometrial, T-ALL""" 31 68 0 0 1 0 0 AK9 221264 broad.mit.edu 37 6 109815251 109815251 + Silent SNP T T C TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr6:109815251T>C ENST00000424296.2 - 40 5542 c.5466A>G c.(5464-5466)ttA>ttG p.L1822L RP5-919F19.5_ENST00000423747.1_RNA NM_001145128.2 NP_001138600.2 adenylate kinase 9 ACTTGGGCTTTAAGCATCCCG 0.363000 15 28 0 0 1 0 0 NRD1 4898 broad.mit.edu 37 1 52272573 52272573 + Missense_Mutation SNP G G A TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr1:52272573G>A ENST00000354831.7 - 20 2396 c.2207C>T c.(2206-2208)aCg>aTg p.T736M NRD1_ENST00000352171.7_Missense_Mutation_p.T668M|NRD1_ENST00000539524.1_Missense_Mutation_p.T604M|NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000544028.1_Missense_Mutation_p.T536M NM_002525.2 NP_002516.2 O43847 NRDC_HUMAN nardilysin (N-arginine dibasic convertase) 667 cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity cell surface|cytosol epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1) 27 AGCCTTCAACGTAAAGTCCGT 0.373000 20 67 0 0 1 0 0 ERGIC2 51290 broad.mit.edu 37 12 29494102 29494102 + Missense_Mutation SNP T T C TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr12:29494102T>C ENST00000360150.4 - 14 1196 c.1121A>G c.(1120-1122)aAt>aGt p.N374S NM_016570.2 NP_057654.2 Q96RQ1 ERGI2_HUMAN ERGIC and golgi 2 374 N -> S (in Ref. 4; BAD96519). vesicle-mediated transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane|nucleus endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)|urinary_tract(1) 10 Lung NSC(12;2.02e-08)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)|Lung SC(9;0.184) Arsenic trioxide(DB01169) ATGTGTATTATTTTCTAAAAG 0.318000 3 12 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195505790 195505790 + Missense_Mutation SNP G G C rs11928301 TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr3:195505790G>C ENST00000463781.3 - 2 13120 c.12661C>G c.(12661-12663)Cac>Gac p.H4221D MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H4221D|MUC4_ENST00000346145.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 978 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GGGGTGGCGTGACCTGTGGAT 0.587000 3 19 0 0 1 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144931280 144931280 + Silent SNP C C T TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr1:144931280C>T ENST00000529945.1 - 1 868 c.429G>A c.(427-429)gaG>gaA p.E143E PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000369354.3_Intron|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000369359.4_Intron|PDE4DIP_ENST00000313431.9_Silent_p.E143E Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 0 K -> E (in dbSNP:rs1747958). cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 176 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) GATCCTCATTCTCCACCCAGC 0.582000 T PDGFRB MPD 67 209 0 0 1 0 0 ELN 2006 broad.mit.edu 37 7 73470684 73470684 + Missense_Mutation SNP G G A TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr7:73470684G>A ENST00000252034.7 + 20 1633 c.1234G>A c.(1234-1236)Gga>Aga p.G412R ELN_ENST00000414324.1_Missense_Mutation_p.G407R|ELN_ENST00000380553.4_Missense_Mutation_p.G295R|ELN_ENST00000380562.4_Missense_Mutation_p.G412R|ELN_ENST00000380575.4_Missense_Mutation_p.G402R|ELN_ENST00000380576.5_Missense_Mutation_p.G412R|ELN_ENST00000380584.4_Missense_Mutation_p.G398R|ELN_ENST00000358929.4_Missense_Mutation_p.G412R|ELN_ENST00000357036.5_Missense_Mutation_p.G417R|ELN_ENST00000320399.6_Missense_Mutation_p.G412R|ELN_ENST00000320492.7_Missense_Mutation_p.G376R|ELN_ENST00000429192.1_Missense_Mutation_p.G417R|ELN_ENST00000458204.1_Missense_Mutation_p.G402R|ELN_ENST00000445912.1_Missense_Mutation_p.G412R|ELN_ENST00000466878.1_3'UTR NM_000501.2 NP_000492.2 P15502 ELN_HUMAN elastin 412 Ala-rich. blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange proteinaceous extracellular matrix extracellular matrix constituent conferring elasticity|protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1) 32 Lung NSC(55;0.159) Rofecoxib(DB00533) TGTCGGAGTCGGAGGTATCCC 0.637000 T PAX5 B-ALL """Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome""" 51 118 0 0 1 0 0 KNOP1 400506 broad.mit.edu 37 16 19718345 19718345 + Missense_Mutation SNP G G A TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr16:19718345G>A ENST00000219837.7 - 5 1342 c.1264C>T c.(1264-1266)Cgg>Tgg p.R422W KNOP1_ENST00000568230.1_Missense_Mutation_p.R101W|AC002550.5_ENST00000565916.1_RNA NM_001012991.2 NP_001013009.2 lysine-rich nucleolar protein 1 CTCATGGCCCGGTCGTAGTCC 0.612000 4 112 0 0 1 0 0 SRRM1 10250 broad.mit.edu 37 1 24998725 24998725 + Missense_Mutation SNP G G A TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr1:24998725G>A ENST00000323848.9 + 17 2978 c.2663G>A c.(2662-2664)cGt>cAt p.R888H SRRM1_ENST00000374389.4_Missense_Mutation_p.R897H|SRRM1_ENST00000447431.2_Missense_Mutation_p.R900H NM_005839.3 NP_005830.2 Q8IYB3 SRRM1_HUMAN serine/arginine repetitive matrix 1 888 mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck DNA binding|protein binding|RNA binding breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2) 36 Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19) UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138) AAGCACCTGCGTGAAAAGGCC 0.413000 14 12 0 0 1 0 0 GEMIN5 25929 broad.mit.edu 37 5 154299598 154299598 + Missense_Mutation SNP G G A TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr5:154299598G>A ENST00000285873.7 - 11 1603 c.1528C>T c.(1528-1530)Cat>Tat p.H510Y NM_001252156.1|NM_015465.4 NP_001239085.1|NP_056280.2 Q8TEQ6 GEMI5_HUMAN gem (nuclear organelle) associated protein 5 510 ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly Cajal body|cytosol|spliceosomal complex protein binding|snRNA binding breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) CAGGGATTATGCTGTAAGACA 0.413000 16 16 0 0 1 0 0 ZNF251 90987 broad.mit.edu 37 8 145948368 145948368 + Missense_Mutation SNP C C T TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr8:145948368C>T ENST00000292562.7 - 5 952 c.677G>A c.(676-678)aGa>aAa p.R226K ZNF251_ENST00000524394.1_Intron NM_138367.1 NP_612376.1 Q9BRH9 ZN251_HUMAN zinc finger protein 251 226 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1) 17 all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11) GBM - Glioblastoma multiforme(99;0.198) TCTCTGGTGTCTACTTAGGTC 0.428000 51 51 0 0 1 0 0 GCC2 9648 broad.mit.edu 37 2 109104168 109104168 + Missense_Mutation SNP C C A TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr2:109104168C>A ENST00000309863.6 + 17 4658 c.3944C>A c.(3943-3945)aCt>aAt p.T1315N NM_181453.3 NP_852118.1 Q8IWJ2 GCC2_HUMAN GRIP and coiled-coil domain containing 2 1315 Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum membrane|trans-Golgi network identical protein binding breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 54 GAACAAGCTACTGTAACCTCT 0.348000 5 127 0.000602214 0.000615901 1 1 0 MUC4 4585 broad.mit.edu 37 3 195505787 195505787 + Missense_Mutation SNP C C T rs11915935 TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr3:195505787C>T ENST00000463781.3 - 2 13123 c.12664G>A c.(12664-12666)Gcc>Acc p.A4222T MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.A4222T|MUC4_ENST00000346145.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 979 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) AGAGGGGTGGCGTGACCTGTG 0.587000 3 19 0 0 1 0 0 REG1P 0 broad.mit.edu 37 2 79364309 79364309 + RNA SNP C C T TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr2:79364309C>T ENST00000444841.1 - 0 285 GCTTCCCCTCCCTTCGTGAGC 0.502000 13 17 0 0 1 0 0 KIAA0226L 80183 broad.mit.edu 37 13 47011573 47011573 + Translation_Start_Site SNP G G A TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr13:47011573G>A ENST00000409879.2 - 0 752 Q9H714 CM018_HUMAN KIAA0226-like NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1) 26 TGATTCTTCCGTCTTCATGCT 0.368000 5 8 0 0 1 0 0 SLC15A1 6564 broad.mit.edu 37 13 99362129 99362129 + Missense_Mutation SNP C C T TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr13:99362129C>T ENST00000376503.5 - 12 992 c.937G>A c.(937-939)Ggg>Agg p.G313R NM_005073.3 NP_005064.1 P46059 S15A1_HUMAN solute carrier family 15 (oligopeptide transporter), member 1 313 digestion|protein transport integral to plasma membrane|membrane fraction peptide:hydrogen symporter activity breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000) ACGATTTTCCCGGACATAGTT 0.368000 42 65 0 0 1 0 0 NOMO1 23420 broad.mit.edu 37 16 14980689 14980689 + Silent SNP C C T TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr16:14980689C>T ENST00000287667.7 + 28 3465 c.3294C>T c.(3292-3294)ttC>ttT p.F1098F NM_014287.3 NP_055102.3 Q15155 NOMO1_HUMAN NODAL modulator 1 1098 integral to membrane carbohydrate binding|carboxypeptidase activity|protein binding endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2) 30 CCCTGTTCTTCCATTTCCCCC 0.473000 37 64 0 0 1 0 0 PROSER1 80209 broad.mit.edu 37 13 39603503 39603503 + Missense_Mutation SNP C C T TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr13:39603503C>T ENST00000352251.3 - 4 1023 c.190G>A c.(190-192)Gct>Act p.A64T PROSER1_ENST00000350125.3_Missense_Mutation_p.A42T NM_025138.3 NP_079414.3 Q86XN7 CM023_HUMAN proline and serine rich 1 64 GGCTGGACAGCCACCATTTTC 0.318000 21 33 0 0 1 0 0 ITGA1 3672 broad.mit.edu 37 5 52193289 52193289 + Missense_Mutation SNP C C T TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr5:52193289C>T ENST00000282588.6 + 10 1552 c.1094C>T c.(1093-1095)aCa>aTa p.T365I NM_181501.1 NP_852478.1 P56199 ITA1_HUMAN integrin, alpha 1 365 axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction integrin complex collagen binding|receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Lung NSC(810;5.05e-05)|Breast(144;0.0851) GTTATAGCCACAGCTGACCAG 0.393000 6 6 0 0 1 0 0 LINC00466 0 broad.mit.edu 37 1 63699443 63699446 + RNA DEL AAAA AAAA - TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr1:63699443_63699446delAAAA ENST00000455304.2 - 0 257 agactgtctcaaaaaaaaaaaaaa 0.500 3 3 --- --- --- --- AL592494.5 0 broad.mit.edu 37 1 121141417 121141417 + RNA DEL G G - rs12132734 TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr1:121141417delG ENST00000417218.1 + 0 551 AAAAAAAAAAGCCACCTGAAT 0.443 2 4 --- --- --- --- RP11-423O2.5 0 broad.mit.edu 37 1 142808478 142808478 + RNA DEL A A - rs138962217 TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr1:142808478delA ENST00000423385.1 - 0 88 caggtttgttaaatatgtata 0.373 4 6 --- --- --- --- SEC22B 9554 broad.mit.edu 37 1 145100672 145100673 + RNA INS - - T rs149064633 TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr1:145100672_145100673insT ENST00000453618.1 + 0 402 O75396 SC22B_HUMAN SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene) ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome protein binding TCTTGCCtttcttttttttttt 0.396 4 5 --- --- --- --- SEC22B 9554 broad.mit.edu 37 1 145101606 145101606 + RNA DEL T T - rs113062007 TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr1:145101606delT ENST00000453618.1 + 0 402 O75396 SC22B_HUMAN SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene) ER to Golgi vesicle-mediated transport|protein transport endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome protein binding TTACAGTGCCTCTTGTAAAGT 0.358 5 4 --- --- --- --- RP11-458D21.1 0 broad.mit.edu 37 1 145380919 145380921 + RNA DEL CTT CTT - rs55940905 TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr1:145380919_145380921delCTT ENST00000419817.1 - 0 307 aaatactgtgcttttttccactg 0.552 3 5 --- --- --- --- RP5-998N21.4 0 broad.mit.edu 37 1 149377834 149377839 + RNA DEL TCTTTG TCTTTG - TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr1:149377834_149377839delTCTTTG ENST00000415338.1 - 0 1061 GTATCTCTTCTCTTTGTCTTTTTCTG 0.461 4 9 --- --- --- --- AC022311.1 0 broad.mit.edu 37 2 4677171 4677171 + RNA DEL G G - TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr2:4677171delG ENST00000412134.1 - 0 1303 NR_034134.1 TGTTGCTTTTGGGCCGCAGTA 0.393 2 4 --- --- --- --- RP11-444A22.1 0 broad.mit.edu 37 2 59681584 59681585 + RNA DEL TG TG - TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr2:59681584_59681585delTG ENST00000606382.1 - 0 433 tgtgtgtgtctgtgtgtgtgtg 0.495 2 4 --- --- --- --- AC074391.1 0 broad.mit.edu 37 2 65813210 65813211 + RNA DEL TG TG - TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr2:65813210_65813211delTG ENST00000377977.3 + 0 862 GAATGATTTTTGTGTGTGTGTG 0.441 2 4 --- --- --- --- AC074391.1 0 broad.mit.edu 37 2 65894933 65894933 + RNA DEL A A - TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr2:65894933delA ENST00000377977.3 + 0 862 TCAGAGGTTTAAAAAAAAAAA 0.517 4 7 --- --- --- --- OR5K1 26339 broad.mit.edu 37 3 98189040 98189041 + Frame_Shift_Del DEL AA AA - TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr3:98189040_98189041delAA ENST00000332650.5 + 1 717_718 c.620_621delAA c.(619-621)cfs p.Q207fs NM_001004736.2 NP_001004736.2 Q8NHB7 OR5K1_HUMAN olfactory receptor, family 5, subfamily K, member 1 207 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 GGTTCAGTTCAAGTCTTTACCA 0.342 46 70 --- --- --- --- RP11-88I21.2 0 broad.mit.edu 37 3 127064187 127064196 + RNA DEL CAAAACAAAA CAAAACAAAA - rs72117384 TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr3:127064187_127064196delCAAAACAAAA ENST00000488425.1 - 0 309 gagactctgtcaaaacaaaacaaaacaaaa 0.433 2 4 --- --- --- --- CTD-2049J23.2 0 broad.mit.edu 37 3 159728365 159728366 + RNA INS - - A rs146647679 by1000genomes TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr3:159728365_159728366insA ENST00000497452.1 - 0 582 CTD-2049J23.2_ENST00000462431.1_RNA gactccacctcaaaaaaaaaag 0.535 4 4 --- --- --- --- KIAA1211 57482 broad.mit.edu 37 4 57180576 57180577 + In_Frame_Ins INS - - GGAGCGGAGGGAGCGGAG rs71921617 by1000genomes TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr4:57180576_57180577insGGAGCGGAGGGAGCGGAG ENST00000504228.1 + 6 1013_1014 c.908_909insGGAGCGGAGGGAGCGGAG c.(907-909)gga>gGGAGCGGAGGGAGCGGAGga p.303_303G>GSGGSGG KIAA1211_ENST00000264229.6_In_Frame_Ins_p.303_303G>GSGGSGG|KIAA1211_ENST00000541073.1_In_Frame_Ins_p.296_296G>GSGGSGG Q6ZU35 K1211_HUMAN KIAA1211 303 Glu-rich. endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1) 65 Glioma(25;0.08)|all_neural(26;0.101) TGGGAGGACGCGGAGCGGAGGG 0.733 2 4 --- --- --- --- IRF2 3660 broad.mit.edu 37 4 185340713 185340715 + In_Frame_Del DEL TCT TCT - TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr4:185340713_185340715delTCT ENST00000393593.3 - 3 302_304 c.95_97delAGA c.(94-99)att>a p.KI32del IRF2_ENST00000512020.1_5'UTR NM_002199.3 NP_002190.2 P14316 IRF2_HUMAN interferon regulatory factor 2 32 blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway focal adhesion|nucleoplasm DNA binding|protein binding|sequence-specific DNA binding transcription factor activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2) 22 all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592) all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419) ATCTGAAAAATCTTCTTTTCCTG 0.414 8 26 --- --- --- --- RP11-326I11.4 0 broad.mit.edu 37 4 185438785 185438785 + RNA DEL T T - TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr4:185438785delT ENST00000605270.1 - 0 53 tccatttgtcttttttttttg 0.428 2 4 --- --- --- --- LY86-AS1 0 broad.mit.edu 37 6 6396374 6396374 + RNA DEL A A - rs71671755 TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr6:6396374delA ENST00000435641.1 - 0 639 LY86-AS1_ENST00000447858.1_RNA|LY86-AS1_ENST00000429345.1_RNA CAGAAAAAAGAAAAAAAAAAA 0.378 3 3 --- --- --- --- RP11-440G9.1 0 broad.mit.edu 37 6 142887848 142887848 + RNA DEL C C - TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr6:142887848delC ENST00000447311.1 - 0 177 NR_027312.1 AGCCTCTAGGCGGCGGCCAAA 0.537 OREG0017700 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 2 4 --- --- --- --- RP5-1132H15.1 0 broad.mit.edu 37 7 65620328 65620329 + RNA DEL AA AA - TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr7:65620328_65620329delAA ENST00000435524.2 - 0 29 actctgtctcaaaaaaaaaata 0.450 2 4 --- --- --- --- RP11-122C21.1 0 broad.mit.edu 37 8 92800523 92800536 + RNA DEL ACTGGGTGGAACCC ACTGGGTGGAACCC - rs71563474 TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr8:92800523_92800536delACTGGGTGGAACCC ENST00000518416.1 - 0 285 ggaagctcgaactgggtggaacccaccacagctc 0.575 3 5 --- --- --- --- RP11-262H14.1 0 broad.mit.edu 37 9 66459739 66459739 + RNA DEL G G - rs141706281 TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr9:66459739delG ENST00000424345.1 + 0 67 atttctttcagtttttttttt 0.289 2 4 --- --- --- --- SLC44A1 23446 broad.mit.edu 37 9 108118561 108118569 + In_Frame_Del DEL CCCTGATCA CCCTGATCA - rs41306484 byFrequency TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr9:108118561_108118569delCCCTGATCA ENST00000374720.3 + 6 816_824 c.569_577delCCCTGATCA c.(568-579)gcc>g p.ALIT190del SLC44A1_ENST00000374723.1_In_Frame_Del_p.ALIT190del|SLC44A1_ENST00000374724.1_In_Frame_Del_p.ALIT190del|SLC44A1_ENST00000343170.7_5'UTR NM_080546.3 NP_536856.2 Q8WWI5 CTL1_HUMAN solute carrier family 44 (choline transporter), member 1 190 integral to membrane|mitochondrial outer membrane|plasma membrane choline transmembrane transporter activity breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 38 Choline(DB00122) TTTGCAGAGGCCCTGATCACCTTTGTCAG 0.407 9 40 --- --- --- --- CEL 1056 broad.mit.edu 37 9 135946988 135946988 + Frame_Shift_Del DEL C C - TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr9:135946988delC ENST00000372080.4 + 11 2124 c.2108delC c.(2107-2109)gcfs p.A703fs CEL_ENST00000351304.7_Frame_Shift_Del_p.A634fs NM_001807.3 NP_001798.2 P19835 CEL_HUMAN carboxyl ester lipase 700 17 X 11 AA tandem repeats, glycodomain, O-linked (mucin type). cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification cytosol|extracellular space acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1) 20 OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196) GACTCCGGGGCCCCCCCCGTG 0.821 3 4 --- --- --- --- RP1-228P16.4 0 broad.mit.edu 37 12 48407125 48407126 + RNA INS - - A rs147630209 TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr12:48407125_48407126insA ENST00000546738.1 + 0 255 aatcttaattgaaaaaaaaaaa 0.406 3 3 --- --- --- --- RP11-161H23.9 0 broad.mit.edu 37 12 49697463 49697463 + RNA DEL C C - TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr12:49697463delC ENST00000553259.1 - 0 365 ccgtgatccgcccgcctcagc 0.493 2 4 --- --- --- --- RP11-809C9.2 0 broad.mit.edu 37 12 116990571 116990572 + RNA DEL CC CC - TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr12:116990571_116990572delCC ENST00000547114.1 + 0 645 GGTTAATAAGCCCCCAGGAGAG 0.609 2 4 --- --- --- --- GUCY1B2 0 broad.mit.edu 37 13 51579823 51579823 + RNA DEL A A - TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr13:51579823delA ENST00000493639.2 - 0 2246 NR_003923.2 GTGTGGGGTTACAGCCAGGCA 0.557 2 4 --- --- --- --- CTD-2540L5.5 0 broad.mit.edu 37 14 71067484 71067504 + RNA DEL GGCAGGAGAGAGGCAGGGGGT GGCAGGAGAGAGGCAGGGGGT - TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr14:71067484_71067504delGGCAGGAGAGAGGCAGGGGGT ENST00000553982.1 - 0 294 gggcggggcgggcaggagagaggcagggggtggaggtgcgg 0.710 3 4 --- --- --- --- RP11-114H24.2 0 broad.mit.edu 37 15 78215586 78215587 + RNA INS - - T TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr15:78215586_78215587insT ENST00000567226.1 - 0 225 AAAATGAGAAATTTAAAAAAAA 0.441 4 4 --- --- --- --- SLC6A10P 0 broad.mit.edu 37 16 32896096 32896100 + RNA DEL GAGGG GAGGG - TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr16:32896096_32896100delGAGGG ENST00000330048.5 - 0 233 NR_003083.2 ggagggctgcgaggggaggggaggg 0.683 2 4 --- --- --- --- RP4-610C12.1 0 broad.mit.edu 37 20 29589314 29589314 + RNA DEL A A - rs145685987 TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr20:29589314delA ENST00000432067.1 - 0 152 tgcatcctgtaagttttgttg 0.318 5 4 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11050147 11050147 + RNA DEL G G - rs60052903 TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr21:11050147delG ENST00000470054.1 - 0 487 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GCTTTTTTTTGATTACTGGAA 0.274 6 4 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11051168 11051168 + RNA DEL T T - rs59377780 TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr21:11051168delT ENST00000470054.1 - 0 487 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) agaccttttgtttttatttac 0.393 3 5 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11055621 11055621 + RNA DEL A A - TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr21:11055621delA ENST00000470054.1 - 0 487 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) gtatcattTTAAAAGCATAAA 0.274 4 4 --- --- --- --- BAGE2 85319 broad.mit.edu 37 21 11072388 11072389 + RNA INS - - T rs139874484 TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr21:11072388_11072389insT ENST00000470054.1 - 0 324 B melanoma antigen family, member 2 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) tggttcacgccgtgattccagc 0.505 3 4 --- --- --- --- CTA-211A9.5 0 broad.mit.edu 37 22 27113997 27113997 + RNA DEL C C - TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr22:27113997delC ENST00000437071.1 + 0 183 gcctcagtctccagatggctc 0.468 2 4 --- --- --- --- PLXNB2 23654 broad.mit.edu 37 22 50719352 50719360 + In_Frame_Del DEL TGCCGGCCT TGCCGGCCT - TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chr22:50719352_50719360delTGCCGGCCT ENST00000449103.1 - 24 3946_3954 c.3806_3814delAGGCCGGCA c.(3805-3816)gtc>g p.EAGI1269del PLXNB2_ENST00000359337.4_In_Frame_Del_p.EAGI1269del O15031 PLXB2_HUMAN plexin B2 1269 regulation of small GTPase mediated signal transduction integral to membrane|intracellular GTPase activator activity|protein binding|receptor activity breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) AGCACGGGGATGCCGGCCTCGTGCACGTC 0.646 24 5 --- --- --- --- HTATSF1 27336 broad.mit.edu 37 X 135585048 135585050 + In_Frame_Del DEL AAG AAG - TCGA-N7-A4Y8-01A-11D-A28R-08 TCGA-N7-A4Y8-10A-01D-A28U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7a243088-bff7-435b-9f10-ddede7b3113f 7ca039c3-049f-4f57-999d-68d6bd34060f g.chrX:135585048_135585050delAAG ENST00000535601.1 + 6 1104_1106 c.682_684delAAG c.(682-684)del p.K232del HTATSF1_ENST00000218364.4_In_Frame_Del_p.K232del NM_001163280.1 NP_001156752.1 O43719 HTSF1_HUMAN HIV-1 Tat specific factor 1 232 Poly-Lys. regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication nucleus nucleotide binding|protein binding|RNA binding NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1) 30 Acute lymphoblastic leukemia(192;0.000127) TGATGCCTCAAAGAAGAAGAAGA 0.335 7 90 --- --- --- ---