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 ZNF426 79088 broad.mit.edu 37 19 9639182 9639182 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:9639182G>A ENST00000593003.1 - 6 1902 c.1425C>T c.(1423-1425)ttC>ttT p.F475F ZNF426_ENST00000535489.1_Silent_p.F513F|ZNF426_ENST00000253115.2_Silent_p.F513F Q9BUY5 ZN426_HUMAN zinc finger protein 426 513 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 20 TGGAACACGTGAAGGCTTTCC 0.428000 22 81 0 0 1 0 0 ZCCHC11 23318 broad.mit.edu 37 1 52941198 52941198 + Missense_Mutation SNP G G A rs143625963 byFrequency TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:52941198G>A ENST00000371544.3 - 13 2295 c.2033C>T c.(2032-2034)tCa>tTa p.S678L ZCCHC11_ENST00000257177.4_Missense_Mutation_p.S678L|ZCCHC11_ENST00000371541.1_5'UTR NM_001009881.2|NM_015269.2 NP_001009881.1|NP_056084.1 Q5TAX3 TUT4_HUMAN zinc finger, CCHC domain containing 11 678 PAP-associated 1. miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance cytoplasm|nucleolus nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 58 CCTCTTGACTGAAAATGGATC 0.393000 8 22 0 0 1 0 0 REXO1 57455 broad.mit.edu 37 19 1828237 1828237 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:1828237G>A ENST00000170168.4 - 2 645 c.551C>T c.(550-552)tCc>tTc p.S184F REXO1_ENST00000587524.1_5'UTR NM_020695.3 NP_065746.3 Q8N1G1 REXO1_HUMAN REX1, RNA exonuclease 1 homolog (S. cerevisiae) 184 nucleus exonuclease activity|nucleic acid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 16 Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCTGTCCAGGGACGCCAGCGA 0.716000 7 32 0 0 1 0 0 MAT2A 4144 broad.mit.edu 37 2 85770102 85770102 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:85770102G>C ENST00000306434.3 + 8 1153 c.1030G>C c.(1030-1032)Gag>Cag p.E344Q MAT2A_ENST00000409017.1_Missense_Mutation_p.E281Q NM_005911.5 NP_005902.1 P31153 METK2_HUMAN methionine adenosyltransferase II, alpha 344 methylation|xenobiotic metabolic process cytosol ATP binding|metal ion binding|methionine adenosyltransferase activity breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 9 L-Methionine(DB00134)|S-Adenosylmethionine(DB00118) GAGTGAGAGAGAGCTATTAGA 0.408000 17 61 0 0 1 0 0 ZNF560 147741 broad.mit.edu 37 19 9578284 9578284 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:9578284G>C ENST00000301480.4 - 10 1552 c.1339C>G c.(1339-1341)Ctt>Gtt p.L447V NM_152476.2 NP_689689.2 Q96MR9 ZN560_HUMAN zinc finger protein 560 447 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 65 TGTCCAAAAAGAGATGGGTAA 0.403000 32 101 0 0 1 0 0 ZNF12 7559 broad.mit.edu 37 7 6731904 6731904 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:6731904C>G ENST00000405858.1 - 5 1210 c.669G>C c.(667-669)caG>caC p.Q223H AC073343.13_ENST00000366167.2_RNA|ZNF12_ENST00000404360.1_Missense_Mutation_p.Q149H|ZNF12_ENST00000342651.5_Missense_Mutation_p.Q185H NM_006956.2|NM_016265.3 NP_008887.2|NP_057349.2 P17014 ZNF12_HUMAN zinc finger protein 12 223 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3) 16 Ovarian(82;0.0776) UCEC - Uterine corpus endometrioid carcinoma (126;0.0231) GGAAGGCTTTCTGGCATTCAA 0.348000 3 26 0 0 1 0 0 PBX1 5087 broad.mit.edu 37 1 164769035 164769035 + Missense_Mutation SNP A A C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:164769035A>C ENST00000420696.2 + 4 798 c.610A>C c.(610-612)Atc>Ctc p.I204L PBX1_ENST00000559240.1_Missense_Mutation_p.I204L|PBX1_ENST00000560641.1_Missense_Mutation_p.I99L|PBX1_ENST00000367897.1_Missense_Mutation_p.I204L|PBX1_ENST00000540246.1_Missense_Mutation_p.I99L|PBX1_ENST00000540236.1_Missense_Mutation_p.I204L|PBX1_ENST00000401534.1_Missense_Mutation_p.I204L NM_001204961.1|NM_001204963.1|NM_002585.3 NP_001191890.1|NP_001191892.1|NP_002576.1 P40424 PBX1_HUMAN pre-B-cell leukemia homeobox 1 204 negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription factor binding EWSR1/PBX1(3) large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 4 GGTCAGCATCATCCACCGCAA 0.587000 T """TCF3, EWSR1""" """pre B-ALL, myoepithelioma""" 15 52 0 0 1 0 0 RICTOR 253260 broad.mit.edu 37 5 38966820 38966820 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:38966820G>C ENST00000357387.3 - 15 1252 c.1222C>G c.(1222-1224)Cta>Gta p.L408V RICTOR_ENST00000296782.5_Missense_Mutation_p.L408V NM_152756.3 NP_689969.2 Q6R327 RICTR_HUMAN RPTOR independent companion of MTOR, complex 2 408 actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation cytosol|TORC2 complex protein binding NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5) 75 all_lung(31;0.000396) ACTTCAACTAGACCCTTTGAA 0.274000 8 19 0 0 1 0 0 TSACC 128229 broad.mit.edu 37 1 156316677 156316677 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:156316677G>A ENST00000481479.1 + 4 632 c.271G>A c.(271-273)Gac>Aac p.D91N TSACC_ENST00000368253.2_Silent_p.V94V|TSACC_ENST00000368254.1_Silent_p.V94V|TSACC_ENST00000466306.1_Missense_Mutation_p.D91N|TSACC_ENST00000368255.3_Silent_p.V94V|TSACC_ENST00000368252.1_Silent_p.V94V|TSACC_ENST00000470342.1_Missense_Mutation_p.D91N|TSACC_ENST00000368251.1_Silent_p.V94V TSSK6 activating co-chaperone AGGCATCTGTGACACAACTGG 0.468000 32 102 0 0 1 0 0 VRTN 55237 broad.mit.edu 37 14 74824374 74824374 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:74824374C>G ENST00000256362.4 + 2 1129 c.888C>G c.(886-888)ttC>ttG p.F296L NM_018228.2 NP_060698.2 Q9H8Y1 VRTN_HUMAN vertebrae development associated 296 transposition, DNA-mediated DNA binding|transposase activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1) 41 AAAGCACCTTCTACCGCTGGC 0.647000 33 89 0 0 1 0 0 SLC6A19 340024 broad.mit.edu 37 5 1208934 1208934 + Silent SNP C C T rs146678323 byFrequency TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:1208934C>T ENST00000304460.10 + 2 332 c.276C>T c.(274-276)atC>atT p.I92I NM_001003841.2 NP_001003841.1 Q695T7 S6A19_HUMAN solute carrier family 6 (neutral amino acid transporter), member 19 92 cellular nitrogen compound metabolic process integral to plasma membrane amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 44 all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10) Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185) AGTTCGCCATCGGGCAGCGGC 0.667000 36 82 0 0 1 0 0 TNFRSF10A 8797 broad.mit.edu 37 8 23049482 23049482 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:23049482C>T ENST00000221132.3 - 10 1196 c.1132G>A c.(1132-1134)Gac>Aac p.D378N NM_003844.3 NP_003835.3 O00220 TR10A_HUMAN tumor necrosis factor receptor superfamily, member 10a 378 Death. activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors caspase activator activity|death receptor activity|TRAIL binding|transcription factor binding NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1) 16 Prostate(55;0.0421)|Breast(100;0.14) Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646) TCCCAGGAGTCAAAGGGCACG 0.527000 19 60 0 0 1 0 0 HIST1H3B 8358 broad.mit.edu 37 6 26031895 26031895 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:26031895G>C ENST00000244661.2 - 1 393 c.394C>G c.(394-396)Cgc>Ggc p.R132G NM_003537.3 NP_003528.1 P68431 H31_HUMAN histone cluster 1, H3b 132 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1) 25 CTTTCTCCGCGAATGCGGCGA 0.478000 32 57 0 0 1 0 0 PURG 29942 broad.mit.edu 37 8 30889344 30889344 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:30889344C>T ENST00000475541.1 - 1 1887 c.955G>A c.(955-957)Gaa>Aaa p.E319K PURG_ENST00000339382.2_Intron NM_013357.2 NP_037489.1 Q9UJV8 PURG_HUMAN purine-rich element binding protein G 319 nucleus DNA binding endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1) 12 KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108) CTCATCTCTTCTTCATACTTG 0.403000 4 3 0 0 1 0 0 ADCY2 108 broad.mit.edu 37 5 7773074 7773074 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:7773074G>A ENST00000338316.4 + 18 2333 c.2244G>A c.(2242-2244)ctG>ctA p.L748L ADCY2_ENST00000537121.1_Silent_p.L568L NM_020546.2 NP_065433.2 Q08462 ADCY2_HUMAN adenylate cyclase 2 (brain) 748 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 119 TTCTGGGACTGATATCCTGTT 0.463000 41 116 0 0 1 0 0 EPC1 80314 broad.mit.edu 37 10 32575725 32575725 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:32575725C>T ENST00000319778.6 - 9 1590 c.1288G>A c.(1288-1290)Gat>Aat p.D430N EPC1_ENST00000263062.8_Missense_Mutation_p.D430N|EPC1_ENST00000375110.2_Missense_Mutation_p.D380N NM_001272004.1|NM_001272019.2 NP_001258933.1|NP_001258948.1 Q9H2F5 EPC1_HUMAN enhancer of polycomb homolog 1 (Drosophila) 430 histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1) 24 Prostate(175;0.0199) AATCCTCCATCTTTAGGACTA 0.418000 9 37 0 0 1 0 0 FSIP2 401024 broad.mit.edu 37 2 186671526 186671526 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:186671526C>T ENST00000343098.5 + 17 17760 c.17760C>T c.(17758-17760)ctC>ctT p.L5920L FSIP2_ENST00000424728.1_Silent_p.L5831L NM_173651.2 NP_775922.2 fibrous sheath interacting protein 2 NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2) 69 CTATGAAACTCATCAATTCAC 0.368000 10 39 0 0 1 0 0 ABCC12 94160 broad.mit.edu 37 16 48162609 48162609 + Nonsense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr16:48162609G>A ENST00000311303.3 - 9 1621 c.1276C>T c.(1276-1278)Caa>Taa p.Q426* ABCC12_ENST00000448542.1_Nonsense_Mutation_p.Q426*|ABCC12_ENST00000416054.1_Nonsense_Mutation_p.Q426* NM_033226.2 NP_150229.2 Q96J65 MRP9_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 12 426 integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1) 90 all_cancers(37;0.0474)|all_lung(18;0.047) TCTTCTGGTTGGGTGATGTAA 0.413000 27 90 0 0 1 0 0 PDE6A 5145 broad.mit.edu 37 5 149264428 149264428 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:149264428G>C ENST00000255266.5 - 15 1960 c.1841C>G c.(1840-1842)tCc>tGc p.S614C NM_000440.2 NP_000431.2 P16499 PDE6A_HUMAN phosphodiesterase 6A, cGMP-specific, rod, alpha 614 cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception cytosol|plasma membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2) 44 KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147) TGGGTTCTGGGATCTGAATGA 0.468000 16 56 0 0 1 0 0 TSHZ1 10194 broad.mit.edu 37 18 72999280 72999280 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr18:72999280G>A ENST00000322038.5 + 2 2367 c.1783G>A c.(1783-1785)Gag>Aag p.E595K TSHZ1_ENST00000580243.1_Missense_Mutation_p.E640K NM_005786.5 NP_005777.3 Q6ZSZ6 TSH1_HUMAN teashirt zinc finger homeobox 1 640 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2) 42 Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211) Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246) GTCTGCCATGGAGGAGCTGGT 0.637000 17 83 0 0 1 0 0 SUPT16H 11198 broad.mit.edu 37 14 21822578 21822578 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:21822578C>T ENST00000216297.2 - 23 3120 c.2782G>A c.(2782-2784)Gag>Aag p.E928K NM_007192.3 NP_009123.1 Q9Y5B9 SP16H_HUMAN suppressor of Ty 16 homolog (S. cerevisiae) 928 Glu-rich (acidic). DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction chromosome|nucleoplasm GTP binding breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 27 all_cancers(95;0.00115) Epithelial(56;1.62e-06)|all cancers(55;1.49e-05) GBM - Glioblastoma multiforme(265;0.0159) ACCTCACCCTCAGGCTCCAGG 0.478000 8 52 0 0 1 0 0 E2F6 1876 broad.mit.edu 37 2 11586617 11586617 + Nonsense_Mutation SNP C C A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:11586617C>A ENST00000381525.3 - 7 1101 c.832G>T c.(832-834)Gaa>Taa p.E278* E2F6_ENST00000546212.1_Nonsense_Mutation_p.E203*|E2F6_ENST00000307236.4_Nonsense_Mutation_p.E246*|E2F6_ENST00000542100.1_Nonsense_Mutation_p.E203*|E2F6_ENST00000362009.4_3'UTR NM_198256.2 NP_937987.2 O75461 E2F6_HUMAN E2F transcription factor 6 278 Transcription repression. negative regulation of transcription from RNA polymerase II promoter MLL1 complex|transcription factor complex DNA binding|transcription corepressor activity cervix(1)|kidney(1)|lung(3)|prostate(1)|skin(2) 8 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.114)|OV - Ovarian serous cystadenocarcinoma(76;0.168) TTGCTTACTTCAAGCAATTCT 0.363000 12 34 0.0931896 0.0935756 1 1 0 ITPKC 80271 broad.mit.edu 37 19 41235160 41235160 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:41235160G>C ENST00000263370.2 + 3 1342 c.1309G>C c.(1309-1311)Gag>Cag p.E437Q NM_025194.2 NP_079470.1 Q96DU7 IP3KC_HUMAN inositol-trisphosphate 3-kinase C 437 cytoplasm|nucleus ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1) 14 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) CTGTCAGTGTGAGCAGCGCAG 0.532000 14 56 0 0 1 0 0 C2orf68 388969 broad.mit.edu 37 2 85836187 85836187 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:85836187C>T ENST00000306336.5 - 4 426 c.382G>A c.(382-384)Gat>Aat p.D128N USP39_ENST00000459775.1_Intron NM_001013649.3 NP_001013671.2 Q2NKX9 CB068_HUMAN chromosome 2 open reading frame 68 128 breast(1)|central_nervous_system(1)|endometrium(1) 3 CCTGGGTCATCACCCTACGTG 0.552000 17 45 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9083542 9083542 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:9083542G>A ENST00000397910.4 - 1 8476 c.8273C>T c.(8272-8274)tCc>tTc p.S2758F NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 2758 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GAATACAAGGGAACCAGTAGT 0.488000 19 57 0 0 1 0 0 PRRT3 285368 broad.mit.edu 37 3 9988025 9988025 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:9988025C>T ENST00000412055.1 - 4 2961 c.2832G>A c.(2830-2832)ccG>ccA p.P944P NM_207351.3 NP_997234.3 Q5FWE3 PRRT3_HUMAN proline-rich transmembrane protein 3 944 integral to membrane NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2) 13 GGGCTGGGGTCGGGGCAGGCA 0.662000 20 49 0 0 1 0 0 CNOT6L 246175 broad.mit.edu 37 4 78695757 78695757 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr4:78695757G>A ENST00000504123.1 - 3 371 c.241C>T c.(241-243)Ctg>Ttg p.L81L CNOT6L_ENST00000264903.4_Silent_p.L81L|CNOT6L_ENST00000506166.1_5'UTR Q96LI5 CNO6L_HUMAN CCR4-NOT transcription complex, subunit 6-like 81 nuclear-transcribed mRNA poly(A) tail shortening cytosol exonuclease activity|protein binding kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1) 9 AGGTAAACCAGATTATGAAGC 0.418000 8 30 0 0 1 0 0 TLR2 7097 broad.mit.edu 37 4 154625437 154625437 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr4:154625437G>C ENST00000260010.6 + 1 2786 c.1378G>C c.(1378-1380)Gaa>Caa p.E460Q NM_003264.3 NP_003255.2 O60603 TLR2_HUMAN toll-like receptor 2 460 cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1) 29 all_hematologic(180;0.093) Renal(120;0.117) CAAGACACTGGAAATTTTAGA 0.358000 26 56 0 0 1 0 0 SEMA3B 7869 broad.mit.edu 37 3 50310680 50310680 + RNA SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:50310680C>T ENST00000418948.1 + 0 898 Q13214 SEM3B_HUMAN sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B axon guidance|cell-cell signaling endoplasmic reticulum|extracellular region|membrane receptor activity central_nervous_system(2)|kidney(1)|lung(2)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605) GGTCTCGCATCAGGAGGCAAG 0.622000 OREG0015583 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 10 15 0 0 1 0 0 MLH3 27030 broad.mit.edu 37 14 75513113 75513113 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:75513113C>T ENST00000355774.2 - 2 3461 c.3246G>A c.(3244-3246)ctG>ctA p.L1082L MLH3_ENST00000238662.7_Silent_p.L1082L|MLH3_ENST00000380968.2_Silent_p.L28L|MLH3_ENST00000544985.1_Silent_p.L77L|MLH3_ENST00000556740.1_Silent_p.L1082L|MLH3_ENST00000555671.1_5'UTR|MLH3_ENST00000556257.1_Silent_p.L1082L NM_001040108.1 NP_001035197.1 Q9UHC1 MLH3_HUMAN mutL homolog 3 1082 mismatch repair|reciprocal meiotic recombination chiasma|MutLbeta complex|synaptonemal complex ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 44 BRCA - Breast invasive adenocarcinoma(234;0.00688) CCACAGTTGTCAGGTCTTTAG 0.438000 Mismatch excision repair (MMR) 25 75 0 0 1 0 0 JAK2 3717 broad.mit.edu 37 9 5022040 5022040 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:5022040C>G ENST00000381652.3 + 3 547 c.53C>G c.(52-54)tCt>tGt p.S18C JAK2_ENST00000539801.1_Missense_Mutation_p.S18C NM_004972.3 NP_004963.1 O60674 JAK2_HUMAN Janus kinase 2 18 Interaction with cytokine/interferon/growth hormone receptors (By similarity). actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein caveola|cytoskeleton|cytosol|endomembrane system|nucleus ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18) breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1) 32998 all_hematologic(13;0.137) Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147) GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133) TCCACCTCTTCTATATATCAG 0.393000 1 """T, Mis, O""" """ETV6, PCM1, BCR""" """ALL, AML, MPD, CML""" Polycythemia Vera, Familial 24 77 0 0 1 0 0 PKD1L2 114780 broad.mit.edu 37 16 81198281 81198281 + RNA SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr16:81198281G>A ENST00000533478.1 - 0 1368 PKD1L2_ENST00000525539.1_RNA NM_001278425.1 NP_001265354.1 Q7Z442 PK1L2_HUMAN polycystic kidney disease 1-like 2 neuropeptide signaling pathway integral to membrane calcium ion binding|ion channel activity|sugar binding breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 44 CCGCCCTCCAGAGAGCTGAGG 0.582000 27 89 0 0 1 0 0 PRPF40B 25766 broad.mit.edu 37 12 50035705 50035705 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:50035705C>T ENST00000548825.2 + 19 1937 c.1782C>T c.(1780-1782)tgC>tgT p.C594C FMNL3_ENST00000335154.5_3'UTR|PRPF40B_ENST00000261897.1_Intron|PRPF40B_ENST00000380281.1_Silent_p.C572C NM_001031698.2 NP_001026868.2 Q6NWY9 PR40B_HUMAN PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae) 572 mRNA processing|RNA splicing nuclear speck breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 34 GGGGCTTCTGCGTGGAGGTGA 0.577000 19 79 0 0 1 0 0 ROBO1 6091 broad.mit.edu 37 3 78649360 78649360 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:78649360C>G ENST00000436010.2 - 28 5724 c.4727G>C c.(4726-4728)aGa>aCa p.R1576T ROBO1_ENST00000495273.1_Missense_Mutation_p.R1570T|ROBO1_ENST00000466906.1_5'UTR|ROBO1_ENST00000464233.1_Missense_Mutation_p.R1615T|ROBO1_ENST00000467549.1_Missense_Mutation_p.R1515T Q9Y6N7 ROBO1_HUMAN roundabout, axon guidance receptor, homolog 1 (Drosophila) 1615 activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1) 44 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) TTCTCTTTGTCTGCTTCCTGA 0.383000 14 39 0 0 1 0 0 HCLS1 3059 broad.mit.edu 37 3 121354648 121354648 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:121354648C>T ENST00000314583.3 - 9 716 c.625G>A c.(625-627)Gct>Act p.A209T HCLS1_ENST00000428394.2_Missense_Mutation_p.A172T|HCLS1_ENST00000473883.1_5'UTR NM_005335.4 NP_005326 P14317 HCLS1_HUMAN hematopoietic cell-specific Lyn substrate 1 209 erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus mitochondrion|nucleus|plasma membrane DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 GBM - Glioblastoma multiforme(114;0.0912) AAGCCGACAGCGCTCTGCAGG 0.557000 27 70 0 0 1 0 0 KIAA1328 57536 broad.mit.edu 37 18 34415224 34415224 + Nonsense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr18:34415224C>G ENST00000591619.1 + 3 896 c.110C>G c.(109-111)tCa>tGa p.S37* KIAA1328_ENST00000543923.1_5'UTR|KIAA1328_ENST00000280020.5_Nonsense_Mutation_p.S41*|KIAA1328_ENST00000435985.2_5'UTR|KIAA1328_ENST00000592521.1_Nonsense_Mutation_p.S41* Q86T90 K1328_HUMAN KIAA1328 41 central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1) 14 COAD - Colon adenocarcinoma(74;0.195) AATGTCAGATCAAGACACAAG 0.393000 17 56 0 0 1 0 0 TRPV5 56302 broad.mit.edu 37 7 142612712 142612712 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:142612712G>A ENST00000265310.1 - 9 1497 c.1149C>T c.(1147-1149)atC>atT p.I383I NM_019841.4 NP_062815.2 Q9NQA5 TRPV5_HUMAN transient receptor potential cation channel, subfamily V, member 5 383 protein tetramerization apical plasma membrane|integral to plasma membrane calcium channel activity NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 67 Melanoma(164;0.059) CCAGCCTGATGATATCTTCAC 0.527000 16 50 0 0 1 0 0 EGFR 1956 broad.mit.edu 37 7 55270282 55270282 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:55270282G>A ENST00000275493.2 + 27 3412 c.3235G>A c.(3235-3237)Gag>Aag p.E1079K EGFR_ENST00000454757.2_Missense_Mutation_p.E1026K|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000455089.1_Missense_Mutation_p.E1034K NM_005228.3 NP_005219.2 P00533 EGFR_HUMAN epidermal growth factor receptor 1079 activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6) 14110 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) CGCCTTGACTGAGGACAGCAT 0.567000 8 """A, O, Mis""" """glioma, NSCLC""" NSCLC Lung Cancer, Familial Clustering of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) 8 18 0 0 1 0 0 TAS2R43 259289 broad.mit.edu 37 12 11244734 11244734 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:11244734G>A ENST00000531678.1 - 1 178 c.95C>T c.(94-96)tCc>tTc p.S32F TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron NM_176884.2 NP_795365.2 P59537 T2R43_HUMAN taste receptor, type 2, member 43 32 detection of chemical stimulus involved in sensory perception of bitter taste cilium membrane|motile cilium bitter taste receptor activity endometrium(1)|ovary(1)|prostate(2)|urinary_tract(1) 5 OV - Ovarian serous cystadenocarcinoma(49;0.0344) BRCA - Breast invasive adenocarcinoma(232;0.196) CCACTCAATGGAATTTACCAG 0.388000 12 52 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105415185 105415185 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:105415185G>A ENST00000333244.5 - 7 6722 c.6603C>T c.(6601-6603)ctC>ctT p.L2201L AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 2201 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) GCTGAATGCTGAGGTCAGTGG 0.637000 78 135 0 0 1 0 0 ZNF518B 85460 broad.mit.edu 37 4 10446884 10446884 + Nonsense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr4:10446884G>A ENST00000326756.3 - 3 1507 c.1069C>T c.(1069-1071)Cag>Tag p.Q357* NM_053042.2 NP_444270.2 Q9C0D4 Z518B_HUMAN zinc finger protein 518B 357 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 ACAAGCTGCTGTGTACCATTG 0.453000 36 105 0 0 1 0 0 EZH2 2146 broad.mit.edu 37 7 148512132 148512132 + Splice_Site SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:148512132C>G ENST00000320356.2 - 14 1668 c.e14-1 EZH2_ENST00000350995.2_Splice_Site|EZH2_ENST00000460911.1_Splice_Site|EZH2_ENST00000478654.1_Intron|EZH2_ENST00000483967.1_Splice_Site|EZH2_ENST00000476773.1_Intron|EZH2_ENST00000541220.1_Intron NM_001203247.1|NM_001203248.1|NM_004456.4 NP_001190176.1|NP_001190177.1|NP_004447.2 Q15910 EZH2_HUMAN enhancer of zeste homolog 2 (Drosophila) negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex DNA binding|histone-lysine N-methyltransferase activity|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3) 359 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00239) GAGGAGCCGTCTGAGTAAAGA 0.443000 Mis DLBCL 8 25 0 0 1 0 0 ZZEF1 23140 broad.mit.edu 37 17 3945848 3945848 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:3945848C>G ENST00000381638.2 - 39 6305 c.6181G>C c.(6181-6183)Gaa>Caa p.E2061Q NM_015113.3 NP_055928.3 O43149 ZZEF1_HUMAN zinc finger, ZZ-type with EF-hand domain 1 2061 calcium ion binding|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 84 GATGACACTTCTGAATCTTCA 0.448000 22 63 0 0 1 0 0 BEGAIN 57596 broad.mit.edu 37 14 101005461 101005461 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:101005461G>A ENST00000556751.1 - 5 3839 c.435C>T c.(433-435)ttC>ttT p.F145F BEGAIN_ENST00000443071.2_Silent_p.F209F|CTD-2062F14.3_ENST00000553301.1_lincRNA|BEGAIN_ENST00000355173.2_Silent_p.F209F Q9BUH8 BEGIN_HUMAN brain-enriched guanylate kinase-associated 209 cytoplasm|membrane protein binding cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1) 14 Melanoma(154;0.212) CCCCGTCGCAGAAGGCCAGGT 0.692000 10 29 0 0 1 0 0 PCDH17 27253 broad.mit.edu 37 13 58207697 58207697 + Silent SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr13:58207697C>G ENST00000377918.3 + 1 1043 c.1017C>G c.(1015-1017)gtC>gtG p.V339V NM_001040429.2 NP_001035519.1 O14917 PCD17_HUMAN protocadherin 17 339 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;1.06e-05) AAGTCACGGTCAAGCTCATCG 0.642000 42 108 0 0 1 0 0 ORM1 5004 broad.mit.edu 37 9 117087340 117087340 + Missense_Mutation SNP G G C rs143596557 TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:117087340G>C ENST00000259396.8 + 5 526 c.448G>C c.(448-450)Gag>Cag p.E150Q ORM1_ENST00000477456.1_3'UTR NM_000607.2 NP_000598.2 P02763 A1AG1_HUMAN orosomucoid 1 150 acute-phase response|regulation of immune system process|transport extracellular space protein binding endometrium(2)|large_intestine(4)|lung(2) 8 Myeloproliferative disorder(63;0.163) Acenocoumarol(DB01418)|Alfentanil(DB00802)|Aprindine(DB01429)|Disopyramide(DB00280)|Penbutolol(DB01359)|Phenprocoumon(DB00946)|Quinidine(DB00908)|Tamsulosin(DB00706) TGACAAGCCAGAGACGACCAA 0.612000 18 61 0 0 1 0 0 ALPK2 115701 broad.mit.edu 37 18 56205258 56205258 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr18:56205258C>T ENST00000361673.3 - 5 2374 c.2161G>A c.(2161-2163)Gaa>Aaa p.E721K RP11-1151B14.4_ENST00000591360.1_RNA NM_052947.3 NP_443179.3 Q86TB3 ALPK2_HUMAN alpha-kinase 2 721 ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2) 84 TCTTGTTTTTCTTCATGCTGT 0.448000 48 138 0 0 1 0 0 ZNF700 90592 broad.mit.edu 37 19 12059829 12059829 + Silent SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:12059829G>C ENST00000482090.1 + 3 1354 c.936G>C c.(934-936)ggG>ggC p.G312G CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000538752.1_Intron|ZNF763_ENST00000590798.1_Intron|ZNF700_ENST00000254321.5_Silent_p.G330G Q9H0M5 ZN700_HUMAN zinc finger protein 700 330 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ZNF700/MAST1_ENST00000251472(2) breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1) 33 CCCACTCTGGGAAAAAACCGT 0.373000 20 57 0 0 1 0 0 PTPN13 5783 broad.mit.edu 37 4 87622524 87622524 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr4:87622524C>G ENST00000436978.1 + 7 1245 c.765C>G c.(763-765)ttC>ttG p.F255L PTPN13_ENST00000427191.2_Missense_Mutation_p.F255L|PTPN13_ENST00000316707.6_Missense_Mutation_p.F255L|PTPN13_ENST00000511467.1_Missense_Mutation_p.F255L|PTPN13_ENST00000411767.2_Missense_Mutation_p.F255L NM_080683.2|NM_080685.2 NP_542414.1|NP_542416.1 Q12923 PTN13_HUMAN protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) 255 cytoplasm|cytoskeleton|plasma membrane protein binding|protein tyrosine phosphatase activity NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242) OV - Ovarian serous cystadenocarcinoma(123;0.00082) AGAATTATTTCAAGGACATTT 0.378000 5 15 0 0 1 0 0 ADAMTS20 80070 broad.mit.edu 37 12 43826205 43826205 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:43826205G>A ENST00000389420.3 - 21 2997 c.2998C>T c.(2998-3000)Cgt>Tgt p.R1000C ADAMTS20_ENST00000553158.1_Missense_Mutation_p.R1000C|ADAMTS20_ENST00000395541.2_Missense_Mutation_p.R154C NM_025003.3 NP_079279.3 P59510 ATS20_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 20 1000 TSP type-1 4. R -> H (in dbSNP:rs7297737). proteinaceous extracellular matrix zinc ion binding breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) TCAGCAAGACGATGGCCAAAG 0.433000 18 70 0 0 1 0 0 TOMM20 9804 broad.mit.edu 37 1 235277211 235277211 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:235277211C>T ENST00000366607.4 - 4 485 c.265G>A c.(265-267)Ggc>Agc p.G89S TOMM20_ENST00000467767.1_5'UTR NM_014765.2 NP_055580.1 Q15388 TOM20_HUMAN translocase of outer mitochondrial membrane 20 homolog (yeast) 89 protein targeting to mitochondrion integral to membrane|mitochondrial outer membrane translocase complex P-P-bond-hydrolysis-driven protein transmembrane transporter activity|unfolded protein binding lung(2)|prostate(1) 3 Ovarian(103;0.0398) all_cancers(173;0.177)|Prostate(94;0.0166) OV - Ovarian serous cystadenocarcinoma(106;6.33e-05)|Epithelial(3;8.26e-05) TGGTCTACGCCCTTCTCATAT 0.418000 24 55 0 0 1 0 0 POLR1E 64425 broad.mit.edu 37 9 37498107 37498107 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:37498107G>A ENST00000377792.3 + 8 1246 c.958G>A c.(958-960)Gaa>Aaa p.E320K POLR1E_ENST00000377798.4_Missense_Mutation_p.E258K|POLR1E_ENST00000442009.2_Missense_Mutation_p.E188K Q9GZS1 RPA49_HUMAN polymerase (RNA) I polypeptide E, 53kDa 320 rRNA transcription cell junction|cytoplasm|nucleolus DNA binding|DNA-directed RNA polymerase activity|protein binding autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1) 12 GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229) CTTTGTCATAGAAGCGTTGAA 0.483000 27 54 0 0 1 0 0 ASUN 55726 broad.mit.edu 37 12 27066474 27066474 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:27066474C>T ENST00000261191.7 - 14 2257 c.1721G>A c.(1720-1722)gGa>gAa p.G574E ASUN_ENST00000539625.1_Missense_Mutation_p.G473E NM_018164.2 NP_060634.2 Q9NVM9 M89BB_HUMAN asunder spermatogenesis regulator 574 cell division|mitosis|regulation of mitotic cell cycle protein binding CCTCTTTCTTCCTCGTTTCTT 0.448000 67 234 0 0 1 0 0 HSD17B6 8630 broad.mit.edu 37 12 57181045 57181045 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:57181045C>T ENST00000554643.1 + 6 1222 c.873C>T c.(871-873)ttC>ttT p.F291F HSD17B6_ENST00000322165.1_Silent_p.F291F|HSD17B6_ENST00000555805.1_Silent_p.F291F|HSD17B6_ENST00000555159.1_Silent_p.F291F|HSD17B6_ENST00000554150.1_Silent_p.F291F O14756 H17B6_HUMAN hydroxysteroid (17-beta) dehydrogenase 6 291 androgen biosynthetic process|androgen catabolic process early endosome membrane|endoplasmic reticulum|microsome binding|electron carrier activity|estradiol 17-beta-dehydrogenase activity|retinol dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity endometrium(1)|large_intestine(2)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 10 Succinic acid(DB00139) AATTTTTCTTCATCCCTCTAT 0.473000 11 46 0 0 1 0 0 GANAB 23193 broad.mit.edu 37 11 62397394 62397394 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:62397394C>T ENST00000346178.4 - 15 1710 c.1695G>A c.(1693-1695)atG>atA p.M565I GANAB_ENST00000534779.1_Missense_Mutation_p.M451I|GANAB_ENST00000540933.1_Missense_Mutation_p.M446I|GANAB_ENST00000356638.3_Missense_Mutation_p.M543I NM_001278192.1|NM_198335.2 NP_001265121.1|NP_938149.2 Q14697 GANAB_HUMAN glucosidase, alpha; neutral AB 543 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|Golgi apparatus|melanosome carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3) 35 ATGGTTCGTTCATGTCATTCC 0.537000 20 85 0 0 1 0 0 CACNA1S 779 broad.mit.edu 37 1 201079390 201079390 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:201079390C>G ENST00000362061.3 - 2 386 c.160G>C c.(160-162)Gag>Cag p.E54Q CACNA1S_ENST00000367338.3_Missense_Mutation_p.E54Q NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 54 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) ATGATCGTCTCGAAGGGCCTG 0.577000 26 70 0 0 1 0 0 ATM 472 broad.mit.edu 37 11 108196791 108196791 + Nonsense_Mutation SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:108196791G>T ENST00000278616.4 + 47 7199 c.6814G>T c.(6814-6816)Gaa>Taa p.E2272* ATM_ENST00000452508.2_Nonsense_Mutation_p.E2272*|C11orf65_ENST00000525729.1_Intron NM_000051.3 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated 2272 FAT. cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) TCAGCTCCCTGAAAGGGCAAT 0.358000 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 8 34 0.00621372 0.00627286 1 1 0 CCR10 2826 broad.mit.edu 37 17 40831760 40831760 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:40831760G>A ENST00000591765.1 - 2 1619 c.234C>T c.(232-234)ctC>ctT p.L78L CCR10_ENST00000332438.4_Silent_p.L300L P46092 CCR10_HUMAN chemokine (C-C motif) receptor 10 300 integral to plasma membrane lung(1)|ovary(1)|skin(1) 3 Breast(137;0.000153) BRCA - Breast invasive adenocarcinoma(366;0.14) CACAGCGGGCGAGGGCCAAGC 0.682000 6 35 0 0 1 0 0 DLG2 1740 broad.mit.edu 37 11 83173066 83173066 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:83173066C>T ENST00000398309.2 - 22 2955 c.2485G>A c.(2485-2487)Gaa>Aaa p.E829K DLG2_ENST00000404783.3_Missense_Mutation_p.E307K|DLG2_ENST00000280241.8_Missense_Mutation_p.E868K|DLG2_ENST00000532653.1_Missense_Mutation_p.E811K|DLG2_ENST00000524982.1_Missense_Mutation_p.E825K|DLG2_ENST00000543673.1_Missense_Mutation_p.E934K|DLG2_ENST00000376106.3_Missense_Mutation_p.E293K|DLG2_ENST00000330014.6_Missense_Mutation_p.E750K|DLG2_ENST00000418306.2_Missense_Mutation_p.E708K|DLG2_ENST00000537455.1_Missense_Mutation_p.E579K|DLG2_ENST00000531015.1_Missense_Mutation_p.E796K|DLG2_ENST00000376104.2_Missense_Mutation_p.E934K|DLG2_ENST00000426717.2_Missense_Mutation_p.E293K NM_001364.3 NP_001355.2 Q15700 DLG2_HUMAN discs, large homolog 2 (Drosophila) 829 Guanylate kinase-like. cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) TCTCCAAATTCTTGTTCTAGC 0.408000 9 35 0 0 1 0 0 TMEM82 388595 broad.mit.edu 37 1 16073402 16073402 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:16073402G>A ENST00000375782.1 + 5 936 c.798G>A c.(796-798)caG>caA p.Q266Q RP11-169K16.4_ENST00000418525.1_RNA NM_001013641.1 NP_001013663.1 A0PJX8 TMM82_HUMAN transmembrane protein 82 266 Leu-rich. integral to membrane autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|lung(5)|prostate(1)|skin(1) 13 Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GCCAGGTGCAGACGGTGCTGG 0.682000 6 24 0 0 1 0 0 CCR4 1233 broad.mit.edu 37 3 32995455 32995455 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:32995455G>A ENST00000330953.5 + 2 709 c.541G>A c.(541-543)Gag>Aag p.E181K NM_005508.4 NP_005499.1 P51679 CCR4_HUMAN chemokine (C-C motif) receptor 4 181 chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response integral to plasma membrane NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1) 16 TTGTTATACTGAGCGCAACCA 0.507000 28 92 0 0 1 0 0 KRT6C 286887 broad.mit.edu 37 12 52865855 52865855 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:52865855C>T ENST00000252250.6 - 2 797 c.750G>A c.(748-750)aaG>aaA p.K250K NM_173086.4 NP_775109.2 P48668 K2C6C_HUMAN keratin 6C 250 Coil 1B.|Rod. cytoskeleton organization keratin filament structural molecule activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2) 23 BRCA - Breast invasive adenocarcinoma(357;0.0828) CTCACTTGTTCTTGAGGTCCT 0.547000 28 97 0 0 1 0 0 TRIM33 51592 broad.mit.edu 37 1 114976330 114976330 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:114976330G>C ENST00000358465.2 - 5 1032 c.949C>G c.(949-951)Caa>Gaa p.Q317E TRIM33_ENST00000369543.2_Missense_Mutation_p.Q317E|TRIM33_ENST00000450349.2_5'UTR NM_015906.3 NP_056990.3 Q9UPN9 TRI33_HUMAN tripartite motif containing 33 317 Necessary for oligomerization. negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent nucleus co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 48 all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184) all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133) TTCTGATTTTGAAAAGCTTCT 0.313000 T RET papillary thyroid 11 26 0 0 1 0 0 NUP210 23225 broad.mit.edu 37 3 13383323 13383323 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:13383323G>A ENST00000254508.5 - 23 3235 c.3153C>T c.(3151-3153)atC>atT p.I1051I NM_024923.2 NP_079199.2 Q8TEM1 PO210_HUMAN nucleoporin 210kDa 1051 carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction endoplasmic reticulum membrane|nuclear membrane|nuclear pore NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 66 all_neural(104;0.187) TGGTCTGGCCGATGGCCACAC 0.522000 14 50 0 0 1 0 0 ZNF608 57507 broad.mit.edu 37 5 123982976 123982976 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:123982976G>C ENST00000306315.5 - 4 3536 c.3101C>G c.(3100-3102)tCt>tGt p.S1034C ZNF608_ENST00000504926.1_Missense_Mutation_p.S607C NM_020747.2 NP_065798.2 Q9ULD9 ZN608_HUMAN zinc finger protein 608 1034 intracellular zinc ion binding breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1) 46 all_cancers(142;0.186)|Prostate(80;0.081) KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221) OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783) ATCTTCCTCAGACTCCTTCTT 0.493000 43 134 0 0 1 0 0 POLK 51426 broad.mit.edu 37 5 74892360 74892360 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:74892360G>A ENST00000241436.4 + 13 2014 c.1842G>A c.(1840-1842)gaG>gaA p.E614E POLK_ENST00000508526.1_Silent_p.E416E|POLK_ENST00000506928.1_3'UTR|POLK_ENST00000380481.3_Silent_p.E524E|POLK_ENST00000352007.5_Silent_p.E416E|POLK_ENST00000504026.1_Intron NM_016218.2 NP_057302.1 Q9UBT6 POLK_HUMAN polymerase (DNA directed) kappa 614 DNA replication|nucleotide-excision repair, DNA gap filling nucleus damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 27 all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184) OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42) AAATATCAGAGAATTCAGATG 0.368000 DNA polymerases (catalytic subunits) 18 103 0 0 1 0 0 HNRNPA2B1 3181 broad.mit.edu 37 7 26236541 26236541 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:26236541C>G ENST00000354667.4 - 5 565 c.397G>C c.(397-399)Gag>Cag p.E133Q HNRNPA2B1_ENST00000356674.7_Missense_Mutation_p.E121Q NM_031243.2 NP_112533.1 P22626 ROA2_HUMAN heterogeneous nuclear ribonucleoprotein A2/B1 133 RRM 2. RNA transport catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm nucleotide binding|protein binding|RNA binding|single-stranded telomeric DNA binding HNRNPA2B1/ETV1(8) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 22 CCATATTCCTCAAAGTAATCT 0.383000 T ETV1 prostate 43 90 0 0 1 0 0 KLHL18 23276 broad.mit.edu 37 3 47384267 47384267 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:47384267G>C ENST00000232766.5 + 9 1305 c.1285G>C c.(1285-1287)Gag>Cag p.E429Q KLHL18_ENST00000455924.2_Missense_Mutation_p.E317Q NM_025010.4 NP_079286.2 O94889 KLH18_HUMAN kelch-like family member 18 429 endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2) 21 Acute lymphoblastic leukemia(5;0.164) BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741) TACAGTCTTTGAGGGCAGGAT 0.512000 22 53 0 0 1 0 0 CDK7 1022 broad.mit.edu 37 5 68548244 68548244 + Splice_Site SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:68548244G>C ENST00000502604.1 + 2 337 c.e2-1 CDK7_ENST00000256443.3_Splice_Site|CDK7_ENST00000513629.1_Splice_Site|CDK7_ENST00000514676.1_Splice_Site P50613 CDK7_HUMAN cyclin-dependent kinase 7 androgen receptor signaling pathway|cell division|cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction holo TFIIH complex|mitochondrion androgen receptor binding|ATP binding|cyclin-dependent protein kinase activity|DNA-dependent ATPase activity|protein C-terminus binding|RNA polymerase II carboxy-terminal domain kinase activity|transcription coactivator activity endometrium(1)|lung(2) 3 Lung NSC(167;7.26e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;2.98e-56)|Epithelial(20;3.54e-52)|all cancers(19;9.11e-48)|Lung(70;0.0185) GTTTCTACCAGATCAAACTTG 0.259000 Nucleotide excision repair (NER) 32 116 0 0 1 0 0 STK11IP 114790 broad.mit.edu 37 2 220474164 220474164 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:220474164G>A ENST00000456909.1 + 17 2096 c.2006G>A c.(2005-2007)aGa>aAa p.R669K STK11IP_ENST00000295641.10_Missense_Mutation_p.R680K Q8N1F8 S11IP_HUMAN serine/threonine kinase 11 interacting protein 680 protein localization cytoplasm protein kinase binding breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1) 23 Renal(207;0.0183) Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CTGCTGGGTAGATTCCAGTGT 0.582000 5 20 0 0 1 0 0 PRKRIR 5612 broad.mit.edu 37 11 76063340 76063340 + Missense_Mutation SNP T T C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:76063340T>C ENST00000260045.3 - 5 959 c.854A>G c.(853-855)gAa>gGa p.E285G NM_004705.2 NP_004696.2 O43422 P52K_HUMAN protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) 285 negative regulation of cell proliferation|response to stress|signal transduction DNA binding|metal ion binding|protein dimerization activity cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 25 GTTATGAGATTCATCAACAAA 0.428000 6 32 0 0 1 0 0 DST 667 broad.mit.edu 37 6 56507261 56507261 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:56507261C>T ENST00000370754.5 - 15 1719 c.1720G>A c.(1720-1722)Gac>Aac p.D574N DST_ENST00000312431.6_Missense_Mutation_p.D396N|DST_ENST00000370788.2_Missense_Mutation_p.D396N|DST_ENST00000421834.2_Missense_Mutation_p.D396N|DST_ENST00000518935.1_Missense_Mutation_p.D70N|DST_ENST00000446842.2_Missense_Mutation_p.D70N|DST_ENST00000370765.6_Missense_Mutation_p.D70N|DST_ENST00000244364.6_Missense_Mutation_p.D70N|DST_ENST00000370769.4_Missense_Mutation_p.D396N|DST_ENST00000361203.3_Missense_Mutation_p.D396N Q03001 DYST_HUMAN dystonin 396 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) ATGACACTGTCCCTCTGAACT 0.403000 11 58 0 0 1 0 0 NNMT 4837 broad.mit.edu 37 11 114168699 114168699 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:114168699G>A ENST00000535401.1 + 4 445 c.181G>A c.(181-183)Gac>Aac p.D61N RP11-64D24.2_ENST00000544925.1_RNA|NNMT_ENST00000299964.3_Missense_Mutation_p.D61N|NNMT_ENST00000541754.1_5'UTR P40261 NNMT_HUMAN nicotinamide N-methyltransferase 61 xenobiotic metabolic process cytosol nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 16 all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906) BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128) Niacin(DB00627) CCTGCTGATTGACATCGGCTC 0.507000 15 85 0 0 1 0 0 C11orf49 79096 broad.mit.edu 37 11 47073976 47073976 + Nonsense_Mutation SNP C C T rs14051 TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:47073976C>T ENST00000395460.2 + 3 225 c.187C>T c.(187-189)Cga>Tga p.R63* C11orf49_ENST00000378615.3_Nonsense_Mutation_p.R63*|C11orf49_ENST00000278460.7_Nonsense_Mutation_p.R63*|C11orf49_ENST00000527268.1_3'UTR|C11orf49_ENST00000536126.1_5'UTR|C11orf49_ENST00000543718.1_Intron|C11orf49_ENST00000378618.2_Nonsense_Mutation_p.R63* NM_001003676.1 NP_001003676.1 Q9H6J7 CK049_HUMAN chromosome 11 open reading frame 49 63 p.R63*(2) central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(1) 11 CATTCTCTTTCGAGAATTCAG 0.453000 50 134 0 0 1 0 0 FBXO28 23219 broad.mit.edu 37 1 224345239 224345239 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:224345239G>C ENST00000366862.5 + 5 941 c.898G>C c.(898-900)Gac>Cac p.D300H FBXO28_ENST00000424254.2_3'UTR NM_015176.3 NP_055991.1 Q9NVF7 FBX28_HUMAN F-box protein 28 300 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(2)|skin(1) 10 Breast(184;0.206) GBM - Glioblastoma multiforme(131;0.0363) TCAAGACCAGGACCAGAAACT 0.473000 32 158 0 0 1 0 0 NIPBL 25836 broad.mit.edu 37 5 36953855 36953855 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:36953855C>T ENST00000282516.8 + 2 556 c.57C>T c.(55-57)ctC>ctT p.L19L NIPBL_ENST00000448238.2_Silent_p.L19L NM_015384.4|NM_133433.3 NP_056199.2|NP_597677.2 Q6KC79 NIPBL_HUMAN Nipped-B homolog (Drosophila) 19 brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis SMC loading complex chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4) 128 all_lung(31;0.000447)|Hepatocellular(1;0.108) Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202) TTGCTAGTCTCACAGACCGTA 0.348000 19 52 0 0 1 0 0 PIKFYVE 200576 broad.mit.edu 37 2 209203277 209203277 + Nonsense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:209203277C>T ENST00000264380.4 + 29 4815 c.4657C>T c.(4657-4659)Cag>Tag p.Q1553* NM_015040.3 NP_055855.2 Q9Y2I7 FYV1_HUMAN phosphoinositide kinase, FYVE finger containing 1553 cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi early endosome membrane|membrane raft 1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 107 TCCAGGACTTCAGAATGGAGA 0.348000 8 35 0 0 1 0 0 NUAK2 81788 broad.mit.edu 37 1 205280856 205280856 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:205280856G>A ENST00000367157.3 - 2 455 c.329C>T c.(328-330)cCt>cTt p.P110L NM_030952.1 NP_112214.1 Q9H093 NUAK2_HUMAN NUAK family, SNF1-like kinase, 2 110 Protein kinase. actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis ATP binding|magnesium ion binding|protein serine/threonine kinase activity breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 23 Breast(84;0.186) BRCA - Breast invasive adenocarcinoma(75;0.117) AATGATGTGAGGGTGGTTGAG 0.473000 12 49 0 0 1 0 0 FIP1L1 81608 broad.mit.edu 37 4 54294335 54294335 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr4:54294335C>G ENST00000337488.6 + 13 1353 c.1159C>G c.(1159-1161)Ctg>Gtg p.L387V FIP1L1_ENST00000358575.5_Missense_Mutation_p.L372V|FIP1L1_ENST00000507166.1_Intron|FIP1L1_ENST00000306932.6_Missense_Mutation_p.L313V|FIP1L1_ENST00000507922.1_Missense_Mutation_p.L372V NM_030917.3 NP_112179.2 Q6UN15 FIP1_HUMAN factor interacting with PAPOLA and CPSF1 387 Pro-rich. mRNA processing nucleus RNA binding large_intestine(3)|liver(1)|ovary(1)|skin(1) 6 GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134) TGCTCCACCTCTGATTCCACC 0.423000 T PDGFRA idiopathic hypereosinophilic syndrome 13 56 0 0 1 0 0 RAB3IL1 5866 broad.mit.edu 37 11 61672247 61672247 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:61672247G>A ENST00000394836.2 - 6 922 c.765C>T c.(763-765)tgC>tgT p.C255C RAB3IL1_ENST00000301773.5_Silent_p.C229C NM_013401.2 NP_037533.2 Q8TBN0 R3GEF_HUMAN RAB3A interacting protein (rabin3)-like 1 255 protein binding central_nervous_system(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(4)|skin(3)|urinary_tract(1) 14 TGAAGTCCAGGCAGGGGCCCA 0.662000 3 23 0 0 1 0 0 RFPL4B 442247 broad.mit.edu 37 6 112671523 112671523 + Missense_Mutation SNP C C G rs143103700 byFrequency TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:112671523C>G ENST00000441065.2 + 3 925 c.613C>G c.(613-615)Cgc>Ggc p.R205G NM_001013734.2 NP_001013756.2 Q6ZWI9 RFPLB_HUMAN ret finger protein-like 4B 205 B30.2/SPRY. zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1) 14 all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209) all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244) CCCTCGCCTTCGCCGTGTGGG 0.448000 21 50 0 0 1 0 0 LAMA3 3909 broad.mit.edu 37 18 21327958 21327958 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr18:21327958G>A ENST00000313654.9 + 3 740 c.499G>A c.(499-501)Gat>Aat p.D167N LAMA3_ENST00000399516.3_Missense_Mutation_p.D167N NM_198129.1 NP_937762.1 Q16787 LAMA3_HUMAN laminin, alpha 3 167 Laminin N-terminal. cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TCCTCGCCCTGATCTTTGGGT 0.388000 21 68 0 0 1 0 0 AXIN2 8313 broad.mit.edu 37 17 63545744 63545744 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:63545744G>A ENST00000307078.5 - 3 1163 c.850C>T c.(850-852)Cac>Tac p.H284Y AXIN2_ENST00000375702.5_Missense_Mutation_p.H284Y|CTD-2535L24.2_ENST00000577662.1_3'UTR NM_004655.3 NP_004646.3 Q9Y2T1 AXIN2_HUMAN axin 2 284 cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 34 GAACCTATGTGATAAGGATTA 0.502000 Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome 6 23 0 0 1 0 0 ALDH3A2 224 broad.mit.edu 37 17 19576463 19576463 + Splice_Site SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:19576463G>A ENST00000339618.4 + 10 1664 c.e10-1 ALDH3A2_ENST00000571163.1_Intron|ALDH3A2_ENST00000579855.1_Intron|ALDH3A2_ENST00000395575.2_Intron|ALDH3A2_ENST00000574597.1_Splice_Site|ALDH3A2_ENST00000581518.1_Splice_Site|ALDH3A2_ENST00000176643.6_Intron NM_001031806.1 NP_001026976.1 P51648 AL3A2_HUMAN aldehyde dehydrogenase 3 family, member A2 cellular aldehyde metabolic process|central nervous system development|epidermis development|lipid metabolic process|peripheral nervous system development endoplasmic reticulum membrane|integral to membrane 3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(2)|prostate(1) 13 all_cancers(12;1.39e-05)|all_epithelial(12;0.00158)|Breast(13;0.245) NADH(DB00157) GGTTTTCTCAGAAATACCAAG 0.413000 66 213 0 0 1 0 0 ABCA12 26154 broad.mit.edu 37 2 215875150 215875150 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:215875150C>G ENST00000272895.7 - 18 2596 c.2377G>C c.(2377-2379)Gct>Cct p.A793P ABCA12_ENST00000389661.4_Missense_Mutation_p.A475P NM_173076.2 NP_775099.2 Q86UK0 ABCAC_HUMAN ATP-binding cassette, sub-family A (ABC1), member 12 793 cellular homeostasis|lipid transport integral to membrane ATP binding|ATPase activity NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 139 Renal(323;0.127) Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) ACAGGTCCAGCGGGCATGTTA 0.373000 10 27 0 0 1 0 0 SULT1A2 6799 broad.mit.edu 37 16 28603660 28603660 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr16:28603660C>T ENST00000533150.1 - 3 1716 c.600G>A c.(598-600)aaG>aaA p.K200K SULT1A2_ENST00000335715.4_Silent_p.K233K|SULT1A2_ENST00000395630.1_Silent_p.K233K P50226 ST1A2_HUMAN sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2 233 3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine biosynthetic process|catecholamine metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process cytosol aryl sulfotransferase activity|flavonol 3-sulfotransferase activity NS(2)|breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|skin(2) 14 TAGGGTTCTTCTTCATCTCCT 0.567000 46 182 0 0 1 0 0 CRYBA1 1411 broad.mit.edu 37 17 27579109 27579109 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:27579109C>T ENST00000225387.3 + 4 244 c.243C>T c.(241-243)ttC>ttT p.F81F NM_005208.4 NP_005199.2 P05813 CRBA1_HUMAN crystallin, beta A1 81 Beta/gamma crystallin 'Greek key' 2. visual perception soluble fraction structural constituent of eye lens breast(1)|large_intestine(2)|lung(1)|prostate(1) 5 BRCA - Breast invasive adenocarcinoma(11;3.3e-05)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551) ATACCAGCTTCTGTGGGCAAC 0.502000 OREG0024293 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 28 95 0 0 1 0 0 TMEM67 91147 broad.mit.edu 37 8 94808168 94808168 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:94808168C>G ENST00000453321.3 + 18 1871 c.1813C>G c.(1813-1815)Cag>Gag p.Q605E TMEM67_ENST00000409623.3_Missense_Mutation_p.Q524E NM_153704.5 NP_714915.3 Q5HYA8 MKS3_HUMAN transmembrane protein 67 605 cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body unfolded protein binding breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1) 41 Breast(36;4.14e-07) BRCA - Breast invasive adenocarcinoma(8;0.00896) AATGCCAATTCAGGAAGAACG 0.343000 30 71 0 0 1 0 0 ELFN1 392617 broad.mit.edu 37 7 1785913 1785913 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:1785913G>A ENST00000424383.2 + 3 2168 c.1681G>A c.(1681-1683)Gag>Aag p.E561K ELFN1_ENST00000541472.1_Missense_Mutation_p.E539K|ELFN1_ENST00000561626.1_Missense_Mutation_p.E561K extracellular leucine-rich repeat and fibronectin type III domain containing 1 endometrium(1) 1 CATCGCCAAGGAGGTGGACAA 0.657000 5 9 0 0 1 0 0 GSN 2934 broad.mit.edu 37 9 124065295 124065295 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:124065295C>T ENST00000373823.3 + 11 1208 c.303C>T c.(301-303)ttC>ttT p.F101F GSN_ENST00000449733.1_Silent_p.F101F|GSN_ENST00000341272.2_Silent_p.F101F|GSN_ENST00000373808.2_Silent_p.F101F|GSN_ENST00000394353.2_Silent_p.F112F|GSN_ENST00000436847.1_Silent_p.F112F|GSN_ENST00000412819.1_Silent_p.F101F|GSN_ENST00000373818.4_Silent_p.F152F|GSN_ENST00000545652.1_Silent_p.F109F P06396 GELS_HUMAN gelsolin 152 Actin-severing (Potential). actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis actin cytoskeleton|cytosol actin binding|calcium ion binding|protein binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1) 21 TCCAGGGCTTCGAGTCGGCCA 0.617000 28 112 0 0 1 0 0 ZNF385B 151126 broad.mit.edu 37 2 180348114 180348114 + Silent SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:180348114G>C ENST00000410066.1 - 6 1158 c.555C>G c.(553-555)gtC>gtG p.V185V ZNF385B_ENST00000409692.1_Silent_p.V83V|ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000409343.1_Silent_p.V109V|ZNF385B_ENST00000336917.5_Silent_p.V83V NM_152520.4 NP_689733.3 Q569K4 Z385B_HUMAN zinc finger protein 385B 185 nucleus nucleic acid binding|zinc ion binding breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2) 26 Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201) CTAGTGCTTTGACCTTCTTGG 0.458000 10 66 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62294428 62294428 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:62294428C>T ENST00000378024.4 - 5 7735 c.7461G>A c.(7459-7461)atG>atA p.M2487I AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 2487 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) CCCTGATGTTCATATCTGGTA 0.478000 75 165 0 0 1 0 0 STRN 6801 broad.mit.edu 37 2 37113903 37113903 + Missense_Mutation SNP T T A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:37113903T>A ENST00000263918.4 - 8 1006 c.998A>T c.(997-999)aAg>aTg p.K333M STRN_ENST00000379213.2_Intron NM_003162.3 NP_003153.2 O43815 STRN_HUMAN striatin, calmodulin binding protein 333 dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 33 Ovarian(717;0.0129)|all_hematologic(82;0.21) GTATTGTTCCTTGAGTTTGGT 0.403000 20 76 0 0 1 0 0 OR8I2 120586 broad.mit.edu 37 11 55861684 55861684 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:55861684C>G ENST00000302124.2 + 1 932 c.901C>G c.(901-903)Ctg>Gtg p.L301V NM_001003750.1 NP_001003750.1 Q8N0Y5 OR8I2_HUMAN olfactory receptor, family 8, subfamily I, member 2 301 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 53 Esophageal squamous(21;0.00693) AAATGCTCTTCTGAGAGTCAT 0.388000 7 21 0 0 1 0 0 STRN4 29888 broad.mit.edu 37 19 47224014 47224014 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:47224014G>C ENST00000391910.3 - 17 2578 c.2128C>G c.(2128-2130)Ctg>Gtg p.L710V STRN4_ENST00000263280.6_Missense_Mutation_p.L703V|STRN4_ENST00000539396.1_Missense_Mutation_p.L584V Q9NRL3 STRN4_HUMAN striatin, calmodulin binding protein 4 703 cytoplasm|membrane armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 17 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035) CAGAGACGCAGGGAGCAGTCA 0.637000 10 57 0 0 1 0 0 SLC22A25 387601 broad.mit.edu 37 11 62985102 62985102 + Missense_Mutation SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:62985102G>T ENST00000403374.2 - 4 417 c.114C>A c.(112-114)ttC>ttA p.F38L SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000535888.1_Intron|SLC22A25_ENST00000306494.6_Missense_Mutation_p.F204L Q6T423 S22AP_HUMAN solute carrier family 22, member 25 204 transmembrane transport integral to membrane NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7) 34 CCCCAGCCAAGAAGCGCAGGG 0.473000 10 46 1.58986e-06 1.64012e-06 1 1 0 WNK1 65125 broad.mit.edu 37 12 1005785 1005785 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:1005785G>C ENST00000537687.1 + 24 7555 c.6912G>C c.(6910-6912)caG>caC p.Q2304H WNK1_ENST00000340908.4_Missense_Mutation_p.Q1637H|WNK1_ENST00000535572.1_Missense_Mutation_p.Q1796H|WNK1_ENST00000530271.2_Missense_Mutation_p.Q2542H|WNK1_ENST00000315939.6_Missense_Mutation_p.Q2044H NM_001184985.1|NM_213655.4 NP_001171914.1|NP_998820.3 Q9H4A3 WNK1_HUMAN WNK lysine deficient protein kinase 1 2044 intracellular protein kinase cascade|ion transport|neuron development cytoplasm ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2) 104 all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632) Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197) TTCCTAGCCAGAATCTAAGTC 0.463000 12 41 0 0 1 0 0 CSE1L 1434 broad.mit.edu 37 20 47706100 47706100 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr20:47706100G>A ENST00000262982.2 + 19 2121 c.1998G>A c.(1996-1998)gtG>gtA p.V666V CSE1L_ENST00000396192.3_Silent_p.V610V|CSE1L_ENST00000542325.1_Silent_p.V449V NM_001256135.1|NM_001316.3 NP_001243064.1|NP_001307.2 P55060 XPO2_HUMAN CSE1 chromosome segregation 1-like (yeast) 666 apoptosis|cell proliferation|intracellular protein transport cytoplasm|nucleus importin-alpha export receptor activity breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2) 35 BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198) TCTTTCAAGTGATGTCTTTGC 0.413000 14 67 0 0 1 0 0 ZCCHC12 170261 broad.mit.edu 37 X 117959628 117959628 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chrX:117959628C>G ENST00000310164.2 + 4 928 c.421C>G c.(421-423)Caa>Gaa p.Q141E NM_173798.2 NP_776159.1 Q6PEW1 ZCH12_HUMAN zinc finger, CCHC domain containing 12 141 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleic acid binding|zinc ion binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2) 22 cctacaagctcaaggggagaa 0.478000 57 67 0 0 1 0 0 SWT1 54823 broad.mit.edu 37 1 185143554 185143554 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:185143554C>T ENST00000367500.4 + 5 440 c.275C>T c.(274-276)tCa>tTa p.S92L SWT1_ENST00000367501.3_Missense_Mutation_p.S92L NM_017673.6 NP_060143.4 Q5T5J6 SWT1_HUMAN SWT1 RNA endoribonuclease homolog (S. cerevisiae) 92 breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1) 41 ATCGGTTCTTCATCCCAAAGA 0.313000 3 17 0 0 1 0 0 WDR66 144406 broad.mit.edu 37 12 122441644 122441644 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:122441644G>A ENST00000288912.4 + 22 4278 c.3424G>A c.(3424-3426)Gaa>Aaa p.E1142K NM_144668.5 NP_653269.3 Q8TBY9 WDR66_HUMAN WD repeat domain 66 1142 calcium ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 43 all_neural(191;0.0496)|Medulloblastoma(191;0.0922) OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248) AACCATTTCAGAAGATTCCGG 0.433000 16 58 0 0 1 0 0 PIK3R4 30849 broad.mit.edu 37 3 130464012 130464012 + Missense_Mutation SNP C C G rs143147652 TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:130464012C>G ENST00000356763.3 - 2 608 c.51G>C c.(49-51)gaG>gaC p.E17D NM_014602.2 NP_055417.1 Q99570 PI3R4_HUMAN phosphoinositide-3-kinase, regulatory subunit 4 17 fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway cytosol ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 77 AAAAATAACTCTCTACAGAAA 0.438000 15 40 0 0 1 0 0 LRIF1 55791 broad.mit.edu 37 1 111492647 111492647 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:111492647C>T ENST00000369763.4 - 3 2085 c.1695G>A c.(1693-1695)aaG>aaA p.K565K LRIF1_ENST00000494675.1_Silent_p.K29K|LRIF1_ENST00000485275.2_Silent_p.K29K|RP11-96K19.2_ENST00000440689.1_RNA NM_018372.3 NP_060842.3 Q5T3J3 LRIF1_HUMAN ligand dependent nuclear receptor interacting factor 1 565 regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear matrix protein binding endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2) 28 CAGCATCACTCTTCAGATGTA 0.383000 16 61 0 0 1 0 0 PLSCR1 5359 broad.mit.edu 37 3 146234923 146234923 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:146234923C>T ENST00000342435.4 - 8 1180 c.770G>A c.(769-771)gGc>gAc p.G257D PLSCR1_ENST00000487389.1_Missense_Mutation_p.G250D|PLSCR1_ENST00000448787.2_Missense_Mutation_p.G176D|PLSCR1_ENST00000484560.1_5'UTR|PLSCR1_ENST00000448205.1_5'UTR NM_021105.2 NP_066928.1 O15162 PLS1_HUMAN phospholipid scramblase 1 257 phospholipid scrambling|platelet activation|response to virus integral to membrane|plasma membrane calcium ion binding|phospholipid scramblase activity|SH3 domain binding breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1) 15 GGAAATTTTGCCAACCACACA 0.318000 4 68 0 0 1 0 0 ABCA2 20 broad.mit.edu 37 9 139906347 139906347 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:139906347G>A ENST00000265662.5 - 35 5631 c.5484C>T c.(5482-5484)gtC>gtT p.V1828V ABCA2_ENST00000371605.3_Silent_p.V1827V|ABCA2_ENST00000341511.6_Silent_p.V1828V Q9BZC7 ABCA2_HUMAN ATP-binding cassette, sub-family A (ABC1), member 2 1827 cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center ATP binding|ATPase activity, coupled to transmembrane movement of substances central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1) 41 all_cancers(76;0.16) Myeloproliferative disorder(178;0.0511) STAD - Stomach adenocarcinoma(284;0.123) OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048) TGCAGCCGCTGACAAACTGCA 0.627000 8 25 0 0 1 0 0 NPC1L1 29881 broad.mit.edu 37 7 44576463 44576463 + Missense_Mutation SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:44576463G>T ENST00000289547.4 - 3 1714 c.1659C>A c.(1657-1659)ttC>ttA p.F553L NPC1L1_ENST00000423141.1_Missense_Mutation_p.F553L|NPC1L1_ENST00000546276.1_Missense_Mutation_p.F553L|NPC1L1_ENST00000381160.3_Missense_Mutation_p.F553L NM_013389.2 NP_037521.2 Q9UHC9 NPCL1_HUMAN NPC1-like 1 553 cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane hedgehog receptor activity|protein binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 57 Ezetimibe(DB00973) CAATGGCAAGGAAGGGGAAGA 0.597000 23 62 1.9806e-07 2.05319e-07 1 1 0 PPP2R2B 5521 broad.mit.edu 37 5 145969658 145969658 + Missense_Mutation SNP A A C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:145969658A>C ENST00000394413.3 - 9 1754 c.1184T>G c.(1183-1185)gTg>gGg p.V395G PPP2R2B_ENST00000504198.1_Missense_Mutation_p.V401G|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.V453G|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.V384G|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.V398G|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.V384G|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.V395G|CTB-99A3.1_ENST00000512730.1_RNA|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.V395G|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.V395G|PPP2R2B_ENST00000394414.1_Missense_Mutation_p.V461G Q00005 2ABB_HUMAN protein phosphatase 2, regulatory subunit B, beta 395 apoptosis|signal transduction cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex protein binding|protein phosphatase type 2A regulator activity p.V398G(2)|p.V453G(1)|p.V395G(1)|p.V384G(1) endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3) 32 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CTTGCCCCCCACACACACTTT 0.488000 37 133 0 0 1 0 0 CEP250 11190 broad.mit.edu 37 20 34065849 34065849 + Nonsense_Mutation SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr20:34065849G>T ENST00000397527.1 + 17 2737 c.2017G>T c.(2017-2019)Gag>Tag p.E673* CEP250_ENST00000342580.4_Nonsense_Mutation_p.E673*|RP3-477O4.14_ENST00000416260.1_RNA|RP3-477O4.14_ENST00000444933.1_RNA|RP3-477O4.14_ENST00000453914.1_RNA NM_007186.3 NP_009117.2 Q9BV73 CP250_HUMAN centrosomal protein 250kDa 673 Gln/Glu-rich. centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex protein C-terminus binding|protein kinase binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Lung NSC(9;0.00156)|all_lung(11;0.00243) BRCA - Breast invasive adenocarcinoma(18;0.0106) GAAAGCTGAGGAGGCTGGGGC 0.527000 5 33 0.000602214 0.00060976 1 1 0 GLI2 2736 broad.mit.edu 37 2 121740439 121740439 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:121740439C>G ENST00000452319.1 + 11 1726 c.1666C>G c.(1666-1668)Cgc>Ggc p.R556G GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000361492.4_Missense_Mutation_p.R556G|GLI2_ENST00000314490.11_Missense_Mutation_p.R228G P10070 GLI2_HUMAN GLI family zinc finger 2 556 axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(3;0.0496) Prostate(154;0.0623) GCACCAGAATCGCACCCACTC 0.627000 18 91 0 0 1 0 0 CA10 56934 broad.mit.edu 37 17 50235295 50235295 + Translation_Start_Site SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:50235295C>T ENST00000451037.2 - 0 792 CA10_ENST00000340813.6_De_novo_Start_OutOfFrame|CA10_ENST00000442502.2_De_novo_Start_OutOfFrame|CA10_ENST00000570565.1_Intron|CA10_ENST00000285273.4_De_novo_Start_OutOfFrame NM_020178.4 NP_064563.1 Q9NS85 CAH10_HUMAN carbonic anhydrase X brain development cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1) 41 BRCA - Breast invasive adenocarcinoma(22;4.74e-06) GGGACAGTCACCCCCAAGATC 0.612000 11 22 0 0 1 0 0 TMEM132A 54972 broad.mit.edu 37 11 60699265 60699265 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:60699265C>G ENST00000005286.4 + 6 1277 c.1124C>G c.(1123-1125)cCa>cGa p.P375R TMEM132A_ENST00000453848.2_Missense_Mutation_p.P374R NM_017870.3|NM_178031.2 NP_060340.2|NP_821174.1 Q24JP5 T132A_HUMAN transmembrane protein 132A 374 endoplasmic reticulum membrane|Golgi membrane|integral to membrane breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3) 32 CTGGAGTACCCAGGCCAGGCC 0.577000 36 114 0 0 1 0 0 XPO5 57510 broad.mit.edu 37 6 43495465 43495465 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:43495465C>T ENST00000265351.7 - 26 3037 c.2827G>A c.(2827-2829)Gaa>Aaa p.E943K POLR1C_ENST00000304004.3_Intron NM_020750.2 NP_065801.1 Q9HAV4 XPO5_HUMAN exportin 5 943 gene silencing by RNA cytosol|nucleoplasm protein binding|tRNA binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1) 34 all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243) all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524) GCCTCATCTTCTCCACTGCAG 0.498000 18 50 0 0 1 0 0 CSTF2T 23283 broad.mit.edu 37 10 53459127 53459127 + Missense_Mutation SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:53459127G>T ENST00000331173.4 - 1 228 c.183C>A c.(181-183)ttC>ttA p.F61L PRKG1_ENST00000401604.2_Intron|PRKG1_ENST00000373980.4_Intron|PRKG1_ENST00000373985.1_Intron NM_015235.2 NP_056050.1 Q9H0L4 CSTFT_HUMAN cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa, tau variant 61 RRM. mRNA processing nucleus nucleotide binding|RNA binding NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 30 COAD - Colon adenocarcinoma(2;0.00736)|Colorectal(2;0.00898)|all cancers(4;0.0188)|GBM - Glioblastoma multiforme(4;0.0778)|Epithelial(53;0.122) GGTATTCGCAGAAGCCATAGC 0.547000 51 189 6.23363e-37 6.66991e-37 1 1 0 DNAH10 196385 broad.mit.edu 37 12 124293452 124293452 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:124293452C>T ENST00000409039.3 + 18 2767 c.2742C>T c.(2740-2742)atC>atT p.I914I NM_207437.3 NP_997320.2 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 914 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1) 52 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) CAAATGAGATCGACAAGATGT 0.488000 78 266 0 0 1 0 0 ELOVL6 79071 broad.mit.edu 37 4 110972518 110972518 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr4:110972518C>T ENST00000394607.3 - 5 937 c.774G>A c.(772-774)atG>atA p.M258I ELOVL6_ENST00000302274.3_Missense_Mutation_p.M258I Q9H5J4 ELOV6_HUMAN ELOVL fatty acid elongase 6 258 fatty acid elongation, saturated fatty acid|long-chain fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process fatty acid elongase activity|protein binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1) 8 OV - Ovarian serous cystadenocarcinoma(123;0.00462) TTGTTTTCCTCATTTTGCCGA 0.428000 17 65 0 0 1 0 0 RRP12 23223 broad.mit.edu 37 10 99123623 99123623 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:99123623C>T ENST00000370992.4 - 30 3666 c.3555G>A c.(3553-3555)gtG>gtA p.V1185V RRP12_ENST00000536831.1_Silent_p.V903V|RRP12_ENST00000315563.6_Silent_p.V1085V|RRP12_ENST00000414986.1_Silent_p.V1124V|RRP12_ENST00000479481.1_5'UTR NM_015179.3 NP_055994.2 Q5JTH9 RRP12_HUMAN ribosomal RNA processing 12 homolog (S. cerevisiae) 1185 integral to membrane|nuclear membrane|nucleolus protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 37 Colorectal(252;0.162) Epithelial(162;2.72e-09)|all cancers(201;1.76e-07) TCCTGATGATCACATCTTCCA 0.542000 44 173 0 0 1 0 0 RAPH1 65059 broad.mit.edu 37 2 204354805 204354805 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:204354805C>T ENST00000319170.5 - 4 533 c.234G>A c.(232-234)ctG>ctA p.L78L RAPH1_ENST00000453034.1_Silent_p.L78L|RAPH1_ENST00000374488.2_Silent_p.L78L|RAPH1_ENST00000439222.1_Silent_p.L78L|RAPH1_ENST00000418114.1_Silent_p.L78L|RAPH1_ENST00000423104.1_Silent_p.L78L|RAPH1_ENST00000374489.2_Silent_p.L78L|RAPH1_ENST00000374493.3_Silent_p.L78L|RAPH1_ENST00000457812.1_Silent_p.L78L|RAPH1_ENST00000419464.1_Silent_p.L78L|RAPH1_ENST00000308091.4_Silent_p.L78L NM_213589.1 NP_998754.1 Q70E73 RAPH1_HUMAN Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 78 cell-matrix adhesion|signal transduction cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 CTCCCTGATTCAGAGCTTCTG 0.378000 17 87 0 0 1 0 0 ANXA6 309 broad.mit.edu 37 5 150512094 150512094 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:150512094C>T ENST00000354546.5 - 10 906 c.679G>A c.(679-681)Gaa>Aaa p.E227K ANXA6_ENST00000521512.1_Intron|ANXA6_ENST00000356496.5_Missense_Mutation_p.E227K|ANXA6_ENST00000377751.5_Intron|ANXA6_ENST00000523714.1_Missense_Mutation_p.E195K NM_001155.4 NP_001146.2 P08133 ANXA6_HUMAN annexin A6 227 IE -> MK (in Ref. 2; AAA35656). melanosome calcium ion binding|calcium-dependent phospholipid binding|protein binding endometrium(2)|kidney(1)|lung(9) 12 Medulloblastoma(196;0.0912)|all_hematologic(541;0.208) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ATGCTGGCTTCAATCGGCTTC 0.542000 10 26 0 0 1 0 0 RPTN 126638 broad.mit.edu 37 1 152128074 152128074 + Nonsense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:152128074G>A ENST00000316073.3 - 3 1565 c.1501C>T c.(1501-1503)Cag>Tag p.Q501* NM_001122965.1 NP_001116437.1 Q6XPR3 RPTN_HUMAN repetin 501 Gln-rich. proteinaceous extracellular matrix calcium ion binding breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 59 CCGTCTGGCTGACCATAATGA 0.507000 210 694 0 0 1 0 0 C16orf46 123775 broad.mit.edu 37 16 81095596 81095596 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr16:81095596C>T ENST00000378611.4 - 3 473 c.358G>A c.(358-360)Gag>Aag p.E120K RP11-303E16.8_ENST00000564536.1_RNA|C16orf46_ENST00000444657.3_5'UTR|C16orf46_ENST00000299578.5_Missense_Mutation_p.E120K NM_001100873.1 NP_001094343.1 Q6P387 CP046_HUMAN chromosome 16 open reading frame 46 120 NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1) 18 GGGCCCCCCTCAGTAGGAGGC 0.607000 44 155 0 0 1 0 0 SLC25A39 51629 broad.mit.edu 37 17 42398044 42398044 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:42398044C>T ENST00000225308.8 - 9 897 c.723G>A c.(721-723)ccG>ccA p.P241P SLC25A39_ENST00000586016.1_Silent_p.P117P|SLC25A39_ENST00000377095.5_Silent_p.P249P|SLC25A39_ENST00000590194.1_Silent_p.P241P|SLC25A39_ENST00000537904.2_Silent_p.P226P NM_016016.2 NP_057100.1 Q9BZJ4 S2539_HUMAN solute carrier family 25, member 39 249 heme biosynthetic process|transport integral to membrane|mitochondrial inner membrane endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 7 Prostate(33;0.0233) BRCA - Breast invasive adenocarcinoma(366;0.189) TCTGGTCCTTCGGCCTGAACC 0.597000 51 121 0 0 1 0 0 FBXO22 26263 broad.mit.edu 37 15 76196329 76196329 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr15:76196329G>A ENST00000308275.3 + 1 130 c.25G>A c.(25-27)Gag>Aag p.E9K FBXO22_ENST00000565131.1_3'UTR|FBXO22_ENST00000540507.1_5'UTR|FBXO22_ENST00000453211.2_Missense_Mutation_p.E9K NM_147188.2 NP_671717.1 Q8NEZ5 FBX22_HUMAN F-box protein 22 9 VGCCGECR -> AGACGGP (in Ref. 5; AAF04523). ubiquitin-dependent protein catabolic process ubiquitin-protein ligase activity breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 CTGCTGCGGCGAGTGCCGCGG 0.677000 5 7 0 0 1 0 0 ARHGAP6 395 broad.mit.edu 37 X 11157176 11157176 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chrX:11157176C>G ENST00000337414.4 - 13 3604 c.2732G>C c.(2731-2733)gGa>gCa p.G911A ARHGAP6_ENST00000380736.1_Missense_Mutation_p.G708A|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.G708A|ARHGAP6_ENST00000534860.1_Intron NM_013427.2 NP_038286.2 O43182 RHG06_HUMAN Rho GTPase activating protein 6 911 actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction actin filament|cytosol phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 TGCTTGGCCTCCCTGGTCCGT 0.716000 18 6 0 0 1 0 0 SRCAP 10847 broad.mit.edu 37 16 30750601 30750601 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr16:30750601G>C ENST00000262518.4 + 34 9625 c.9240G>C c.(9238-9240)aaG>aaC p.K3080N SRCAP_ENST00000395059.2_Missense_Mutation_p.K3018N|SRCAP_ENST00000344771.4_Missense_Mutation_p.K2922N NM_006662.2 NP_006653.2 Q6ZRS2 SRCAP_HUMAN Snf2-related CREBBP activator protein 3080 interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|nucleus|protein complex ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5) 136 Colorectal(24;0.198) GAGGACGGAAGAGTGGAGGGT 0.587000 16 48 0 0 1 0 0 TMEM215 401498 broad.mit.edu 37 9 32784684 32784684 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:32784684C>T ENST00000342743.5 + 2 868 c.503C>T c.(502-504)tCg>tTg p.S168L NM_212558.2 NP_997723.2 Q68D42 TM215_HUMAN transmembrane protein 215 168 integral to membrane endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2) 12 TACTGCCCCTCGGGCAGTTCC 0.587000 22 44 0 0 1 0 0 FBXW9 84261 broad.mit.edu 37 19 12807065 12807065 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:12807065G>C ENST00000380339.3 - 1 367 c.331C>G c.(331-333)Cgc>Ggc p.R111G FBXW9_ENST00000544494.1_5'UTR|FBXW9_ENST00000393261.3_Missense_Mutation_p.R111G|FBXW9_ENST00000587955.1_Missense_Mutation_p.R111G Q5XUX1 FBXW9_HUMAN F-box and WD repeat domain containing 9 111 F-box. protein binding cervix(1)|lung(4)|ovary(1)|prostate(1) 7 ACGAGGTCGCGGAGCGCGTGG 0.721000 5 10 0 0 1 0 0 OR8H3 390152 broad.mit.edu 37 11 55890712 55890712 + Silent SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:55890712C>G ENST00000313472.3 + 1 864 c.864C>G c.(862-864)ctC>ctG p.L288L NM_001005201.1 NP_001005201.1 Q8N146 OR8H3_HUMAN olfactory receptor, family 8, subfamily H, member 3 288 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1) 42 Esophageal squamous(21;0.00693) TGAATCCACTCATTTATAGTC 0.363000 17 54 0 0 1 0 0 PTPRS 5802 broad.mit.edu 37 19 5231463 5231463 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:5231463C>T ENST00000372412.4 - 14 2249 c.2016G>A c.(2014-2016)gtG>gtA p.V672V PTPRS_ENST00000588012.1_Silent_p.V658V|PTPRS_ENST00000357368.4_Silent_p.V671V|PTPRS_ENST00000348075.2_Silent_p.V658V|PTPRS_ENST00000588552.1_Intron|PTPRS_ENST00000592099.1_Intron|PTPRS_ENST00000353284.2_Intron|PTPRS_ENST00000587303.1_Silent_p.V671V|PTPRS_ENST00000262963.6_Silent_p.V667V Q13332 PTPRS_HUMAN protein tyrosine phosphatase, receptor type, S 671 Fibronectin type-III 4. cell adhesion integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1) 61 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182) GGATGCCGTTCACCTCCTTGG 0.672000 20 46 0 0 1 0 0 SALL4 57167 broad.mit.edu 37 20 50418832 50418832 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr20:50418832G>A ENST00000217086.4 - 1 227 c.116C>T c.(115-117)gCg>gTg p.A39V SALL4_ENST00000371539.3_Missense_Mutation_p.A39V|SALL4_ENST00000395997.3_Missense_Mutation_p.A39V NM_020436.3 NP_065169.1 Q9UJQ4 SALL4_HUMAN spalt-like transcription factor 4 39 transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 CTcccccgccgcgggcgccgc 0.746000 4 19 0 0 1 0 0 FAM174B 400451 broad.mit.edu 37 15 93277233 93277233 + RNA SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr15:93277233C>T ENST00000556424.1 - 0 95 TCCAGCACCTCTGCAGTGAGG 0.582000 20 51 0 0 1 0 0 IL37 27178 broad.mit.edu 37 2 113676180 113676180 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:113676180C>T ENST00000263326.3 + 5 493 c.451C>T c.(451-453)Cgc>Tgc p.R151C IL37_ENST00000353225.3_Missense_Mutation_p.R111C|IL37_ENST00000349806.3_Missense_Mutation_p.R90C|IL37_ENST00000352179.3_Missense_Mutation_p.R130C|IL37_ENST00000311328.2_Missense_Mutation_p.R125C NM_014439.3 NP_055254.2 Q9NZH6 IL37_HUMAN interleukin 37 151 immune response cytosol|extracellular space|nucleus cytokine activity|interleukin-1 receptor antagonist activity|interleukin-1 receptor binding NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3) 19 GGAATCAGCACGCCGGCCCTT 0.517000 12 47 0 0 1 0 0 MITF 4286 broad.mit.edu 37 3 70005608 70005608 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:70005608G>C ENST00000352241.4 + 8 1103 c.940G>C c.(940-942)Gaa>Caa p.E314Q MITF_ENST00000531774.1_Missense_Mutation_p.E151Q|MITF_ENST00000394351.3_Missense_Mutation_p.E213Q|MITF_ENST00000394355.2_Missense_Mutation_p.E289Q|MITF_ENST00000448226.2_Missense_Mutation_p.E320Q|MITF_ENST00000314557.6_Missense_Mutation_p.E207Q|MITF_ENST00000328528.6_Missense_Mutation_p.E313Q|MITF_ENST00000472437.1_Missense_Mutation_p.E262Q|MITF_ENST00000314589.5_Missense_Mutation_p.E298Q NM_198159.2 NP_937802.1 O75030 MITF_HUMAN microphthalmia-associated transcription factor 320 melanocyte differentiation|multicellular organismal development|protein complex assembly nucleus|protein complex DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2) 30 Lung NSC(201;0.0384)|Prostate(884;0.0526) BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239) TCTTGAAGTTGAACGAAGAAG 0.383000 A melanoma """Waardenburg syndrome type 2, Tietz syndrome""" 9 30 0 0 1 0 0 ACIN1 22985 broad.mit.edu 37 14 23549444 23549444 + Missense_Mutation SNP G G C rs151153498 TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:23549444G>C ENST00000262710.1 - 6 1601 c.1274C>G c.(1273-1275)tCt>tGt p.S425C ACIN1_ENST00000605057.1_Missense_Mutation_p.S367C|ACIN1_ENST00000457657.1_Missense_Mutation_p.S385C|ACIN1_ENST00000555053.1_Missense_Mutation_p.S425C NM_001164814.1|NM_014977.3 NP_001158286.1|NP_055792 Q9UKV3 ACINU_HUMAN apoptotic chromatin condensation inducer 1 425 Glu-rich. apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation cytosol ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 37 all_cancers(95;1.36e-05) GBM - Glioblastoma multiforme(265;0.00816) AGGTGGTGGAGAAGATGCTTC 0.517000 20 65 0 0 1 0 0 POLH 5429 broad.mit.edu 37 6 43578408 43578408 + Missense_Mutation SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:43578408G>T ENST00000372236.4 + 10 1487 c.1192G>T c.(1192-1194)Gat>Tat p.D398Y POLH_ENST00000535400.1_Missense_Mutation_p.D336Y|POLH_ENST00000372226.1_Missense_Mutation_p.D398Y NM_006502.2 NP_006493.1 Q9Y253 POLH_HUMAN polymerase (DNA directed), eta 398 DNA replication|DNA synthesis involved in DNA repair|regulation of DNA repair|response to UV-C cytoplasm|nucleoplasm damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding breast(4)|endometrium(5)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 21 all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004) all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167) GATGAGCCATGATGCATTTAC 0.468000 DNA polymerases (catalytic subunits) Xeroderma Pigmentosum 19 44 2.4624e-09 2.56992e-09 1 1 0 NOTUM 147111 broad.mit.edu 37 17 79918540 79918540 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:79918540C>T ENST00000409678.3 - 1 629 c.246G>A c.(244-246)gcG>gcA p.A82A NM_178493.5 NP_848588.3 Q6P988 NOTUM_HUMAN notum pectinacetylesterase homolog (Drosophila) 82 extracellular region hydrolase activity breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1) 15 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) TGAGCTGCTGCGCGGAGCAGG 0.662000 9 18 0 0 1 0 0 DCST2 127579 broad.mit.edu 37 1 155001832 155001832 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:155001832G>A ENST00000368424.3 - 8 1277 c.1219C>T c.(1219-1221)Ctg>Ttg p.L407L DCST2_ENST00000295536.5_Silent_p.L407L NM_144622.2 NP_653223.2 Q5T1A1 DCST2_HUMAN DC-STAMP domain containing 2 407 integral to membrane breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1) 38 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) AAGGTCTCCAGAATGTAAAAA 0.547000 35 102 0 0 1 0 0 DMXL1 1657 broad.mit.edu 37 5 118500366 118500366 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:118500366G>C ENST00000311085.8 + 20 4947 c.4867G>C c.(4867-4869)Gaa>Caa p.E1623Q DMXL1_ENST00000539542.1_Missense_Mutation_p.E1623Q NM_005509.4 NP_005500.4 Q9Y485 DMXL1_HUMAN Dmx-like 1 1623 breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1) 86 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) CAAATGCATAGAAAAAGTAAG 0.408000 21 83 0 0 1 0 0 LRP4 4038 broad.mit.edu 37 11 46907941 46907941 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:46907941C>T ENST00000378623.1 - 17 2601 c.2359G>A c.(2359-2361)Gtg>Atg p.V787M NM_002334.3 NP_002325.2 O75096 LRP4_HUMAN low density lipoprotein receptor-related protein 4 787 endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway integral to membrane calcium ion binding|receptor activity breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 70 Lung(87;0.159) GTCCAGTACACGTGGTCATCC 0.577000 7 19 0 0 1 0 0 NCAPG2 54892 broad.mit.edu 37 7 158456891 158456891 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:158456891C>T ENST00000409339.3 - 15 1913 c.1800G>A c.(1798-1800)gaG>gaA p.E600E NCAPG2_ENST00000409423.1_Silent_p.E600E|NCAPG2_ENST00000449727.2_Silent_p.E600E|NCAPG2_ENST00000275830.10_Silent_p.E392E|NCAPG2_ENST00000356309.3_Silent_p.E600E|NCAPG2_ENST00000541468.1_Silent_p.E101E NM_001281933.1 NP_001268862.1 Q86XI2 CNDG2_HUMAN non-SMC condensin II complex, subunit G2 600 cell division|chromosome condensation|mitosis nucleus methylated histone residue binding NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 39 Ovarian(565;0.152) all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014) OV - Ovarian serous cystadenocarcinoma(82;0.00174) UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18) CATTCTCCTTCTCCCTTCCGT 0.512000 11 82 0 0 1 0 0 EIF4G1 1981 broad.mit.edu 37 3 184043095 184043095 + Silent SNP C C A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:184043095C>A ENST00000342981.4 + 18 3312 c.2898C>A c.(2896-2898)atC>atA p.I966I EIF4G1_ENST00000319274.6_Silent_p.I965I|EIF4G1_ENST00000411531.1_Silent_p.I926I|EIF4G1_ENST00000435046.2_Silent_p.I769I|EIF4G1_ENST00000441154.1_Silent_p.I802I|EIF4G1_ENST00000392537.2_Silent_p.I878I|EIF4G1_ENST00000414031.1_Silent_p.I925I|EIF4G1_ENST00000424196.1_Silent_p.I972I|EIF4G1_ENST00000427845.1_Silent_p.I879I|EIF4G1_ENST00000352767.3_Silent_p.I972I|EIF4G1_ENST00000346169.2_Silent_p.I965I|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000350481.5_Silent_p.I801I|EIF4G1_ENST00000434061.2_Silent_p.I770I|EIF4G1_ENST00000382330.3_Silent_p.I972I NM_182917.4 NP_886553 Q04637 IF4G1_HUMAN eukaryotic translation initiation factor 4 gamma, 1 965 eIF3/EIF4A-binding. insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation cytosol|eukaryotic translation initiation factor 4F complex protein binding|translation initiation factor activity central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 75 all_cancers(143;1.06e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) TGGAAAAAATCATTAAAGAAA 0.532000 35 113 3.67414e-24 3.92139e-24 1 1 0 MYO5B 4645 broad.mit.edu 37 18 47581731 47581731 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr18:47581731G>A ENST00000285039.7 - 2 344 c.45C>T c.(43-45)atC>atT p.I15I NM_001080467.2 NP_001073936.1 Q9ULV0 MYO5B_HUMAN myosin VB 15 Myosin head-like. protein transport myosin complex actin binding|ATP binding|calmodulin binding|motor activity NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4) 87 READ - Rectum adenocarcinoma(32;0.103) CAGGGTCAGGGATCCAGACCC 0.453000 23 84 0 0 1 0 0 SLC30A10 55532 broad.mit.edu 37 1 220101335 220101335 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:220101335G>A ENST00000366926.3 - 1 609 c.448C>T c.(448-450)Cgc>Tgc p.R150C SLC30A10_ENST00000536446.1_Intron|SLC30A10_ENST00000536992.1_Missense_Mutation_p.R150C NM_018713.2 NP_061183.2 Q6XR72 ZNT10_HUMAN solute carrier family 30, member 10 150 zinc ion transport integral to membrane|plasma membrane cation transmembrane transporter activity NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1) 13 GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209) TGCAGGCGGCGACTGCGTCCC 0.746000 4 5 0 0 1 0 0 HECA 51696 broad.mit.edu 37 6 139487792 139487792 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:139487792C>T ENST00000367658.2 + 2 928 c.643C>T c.(643-645)Cct>Tct p.P215S RP1-225E12.2_ENST00000415194.2_RNA|RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000589192.1_RNA|RP1-225E12.2_ENST00000587577.1_RNA|RP1-225E12.2_ENST00000586266.1_RNA|RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.2_ENST00000590679.1_RNA NM_016217.2 NP_057301.1 Q9UBI9 HDC_HUMAN headcase homolog (Drosophila) 215 respiratory tube development endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1) 15 GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387) AGGGAGGCCTCCTGGTGAGGC 0.597000 14 48 0 0 1 0 0 ACAA1 30 broad.mit.edu 37 3 38168124 38168124 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:38168124C>T ENST00000333167.8 - 8 866 c.694G>A c.(694-696)Gat>Aat p.D232N ACAA1_ENST00000444607.2_3'UTR|ACAA1_ENST00000450296.1_Missense_Mutation_p.D191N|ACAA1_ENST00000480865.1_5'UTR|ACAA1_ENST00000544624.1_Missense_Mutation_p.D80N|ACAA1_ENST00000301810.7_Missense_Mutation_p.D199N NM_001607.3 NP_001598.1 P09110 THIK_HUMAN acetyl-CoA acyltransferase 1 232 fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy peroxisomal matrix acetyl-CoA C-acyltransferase activity|protein binding endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1) 9 KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657) CCCTTGTCATCATGGACCGTG 0.592000 30 93 0 0 1 0 0 ANKHD1 54882 broad.mit.edu 37 5 139928595 139928595 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:139928595C>G ENST00000297183.6 + 35 7908 c.7784C>G c.(7783-7785)tCc>tGc p.S2595C EIF4EBP3_ENST00000310331.2_Missense_Mutation_p.P70A|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.S2595C NM_020690.5 NP_065741.3 ankyrin repeat and KH domain containing 1 breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGTCACAACTCCTCCAACAGC 0.567000 9 41 0 0 1 0 0 PDZD8 118987 broad.mit.edu 37 10 119044215 119044215 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:119044215G>C ENST00000334464.5 - 5 2268 c.2029C>G c.(2029-2031)Caa>Gaa p.Q677E PDZD8_ENST00000482496.1_5'UTR NM_173791.3 NP_776152.1 Q8NEN9 PDZD8_HUMAN PDZ domain containing 8 677 intracellular signal transduction metal ion binding kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3) 38 Colorectal(252;0.19) all cancers(201;0.0121) TCCCATGTTTGACGGTCGTCC 0.433000 14 63 0 0 1 0 0 B3GNT5 84002 broad.mit.edu 37 3 182987776 182987776 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:182987776C>T ENST00000326505.3 + 2 720 c.190C>T c.(190-192)Ctt>Ttt p.L64F MCF2L2_ENST00000447025.2_Intron|B3GNT5_ENST00000465010.1_Missense_Mutation_p.L64F|B3GNT5_ENST00000460419.1_Missense_Mutation_p.L64F|MCF2L2_ENST00000328913.3_Intron|MCF2L2_ENST00000473233.1_Intron NM_032047.4 NP_114436.1 Q9BYG0 B3GN5_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5 64 central nervous system development|glycolipid biosynthetic process|protein glycosylation Golgi membrane|integral to membrane beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 8 all_cancers(143;8.52e-13)|Ovarian(172;0.0355) all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) TACCCTGTCTCTTAAGCACAC 0.403000 24 83 0 0 1 0 0 SPATA20 64847 broad.mit.edu 37 17 48632592 48632592 + Splice_Site SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:48632592G>C ENST00000006658.6 + 16 2277 c.e16-1 SPATA20_ENST00000511937.1_Splice_Site|SPATA20_ENST00000356488.4_Splice_Site|SPATA20_ENST00000393244.3_Splice_Site NM_022827.3 NP_073738.2 Q8TB22 SPT20_HUMAN spermatogenesis associated 20 cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis extracellular region mannose-6-phosphate isomerase activity|protein binding endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 24 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;9.38e-09) ATTCCGGTCAGATCGTGATCT 0.592000 11 39 0 0 1 0 0 CXorf67 340602 broad.mit.edu 37 X 51150261 51150261 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chrX:51150261C>T ENST00000342995.2 + 1 495 c.393C>T c.(391-393)caC>caT p.H131H chromosome X open reading frame 67 breast(1)|endometrium(4)|large_intestine(1)|lung(11)|ovary(3)|prostate(1) 21 CCACTGGCCACGCCGACGAGC 0.701000 6 5 0 0 1 0 0 MED13 9969 broad.mit.edu 37 17 60059866 60059866 + Silent SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:60059866G>C ENST00000397786.2 - 16 3574 c.3498C>G c.(3496-3498)ctC>ctG p.L1166L NM_005121.2 NP_005112.2 Q9UHV7 MED13_HUMAN mediator complex subunit 13 1166 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 AGGTAGCCCTGAGAGCTTCAA 0.348000 21 109 0 0 1 0 0 SERPINI2 5276 broad.mit.edu 37 3 167159970 167159970 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:167159970G>A ENST00000476257.1 - 10 1443 c.1145C>T c.(1144-1146)tCa>tTa p.S382L SERPINI2_ENST00000264677.4_Missense_Mutation_p.S382L|SERPINI2_ENST00000461846.1_Missense_Mutation_p.S382L|SERPINI2_ENST00000471111.1_Missense_Mutation_p.S382L O75830 SPI2_HUMAN serpin peptidase inhibitor, clade I (pancpin), member 2 382 cellular component movement|regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1) 41 AAACAGAATTGATTCTAGGGA 0.313000 7 15 0 0 1 0 0 PRDM2 7799 broad.mit.edu 37 1 14107448 14107448 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:14107448C>T ENST00000235372.7 + 8 4014 c.3158C>T c.(3157-3159)tCt>tTt p.S1053F PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.S852F|PRDM2_ENST00000311066.5_Missense_Mutation_p.S1053F|PRDM2_ENST00000413440.1_Missense_Mutation_p.S852F NM_012231.4 NP_036363.2 Q13029 PRDM2_HUMAN PR domain containing 2, with ZNF domain 1053 Poly-Ser. Golgi apparatus|nucleus DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 55 Ovarian(185;0.249) all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145) ACACTttcttcttcctcctct 0.542000 21 68 0 0 1 0 0 PDE2A 5138 broad.mit.edu 37 11 72294523 72294523 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:72294523G>A ENST00000334456.5 - 20 1932 c.1687C>T c.(1687-1689)Cgc>Tgc p.R563C PDE2A_ENST00000540345.1_Missense_Mutation_p.R554C|PDE2A_ENST00000376450.3_Missense_Mutation_p.R307C|PDE2A_ENST00000444035.2_Missense_Mutation_p.R554C|PDE2A_ENST00000544570.1_Missense_Mutation_p.R556C|PDE2A_ENST00000418754.2_Missense_Mutation_p.R448C NM_002599.4 NP_002590.1 O00408 PDE2A_HUMAN phosphodiesterase 2A, cGMP-stimulated 563 platelet activation|signal transduction cytosol 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 36 BRCA - Breast invasive adenocarcinoma(5;3.55e-05) Sildenafil(DB00203)|Sulindac(DB00605) AGGTGGCTGCGATACTGAGCC 0.537000 31 80 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126238455 126238455 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr4:126238455C>G ENST00000394329.3 + 1 902 c.889C>G c.(889-891)Caa>Gaa p.Q297E NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 297 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 GACCCCCTTCCAAATGGACCC 0.662000 OREG0016317 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 17 63 0 0 1 0 0 DDX10 1662 broad.mit.edu 37 11 108811112 108811112 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:108811112G>A ENST00000322536.3 + 18 2719 c.2590G>A c.(2590-2592)Gaa>Aaa p.E864K DDX10_ENST00000534221.1_3'UTR NM_004398.2 NP_004389.2 Q13206 DDX10_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 864 ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2) 27 all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729) BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133) AGCAGAGGATGAAGAGCTGGT 0.478000 T NUP98 AML* 7 56 0 0 1 0 0 MFSD3 113655 broad.mit.edu 37 8 145736434 145736434 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:145736434C>T ENST00000301327.4 + 5 1386 c.1126C>T c.(1126-1128)Ctg>Ttg p.L376L NM_138431.1 NP_612440.1 Q96ES6 MFSD3_HUMAN major facilitator superfamily domain containing 3 376 Leu-rich. transmembrane transport integral to membrane central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4) 8 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) GCTGGGCACTCTGGCCGGAGG 0.647000 47 151 0 0 1 0 0 USP36 57602 broad.mit.edu 37 17 76831483 76831483 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:76831483G>A ENST00000542802.3 - 4 797 c.354C>T c.(352-354)ttC>ttT p.F118F USP36_ENST00000590546.2_Silent_p.F118F|USP36_ENST00000312010.6_Silent_p.F118F|USP36_ENST00000589424.1_Silent_p.F118F Q9P275 UBP36_HUMAN ubiquitin specific peptidase 36 ubiquitin-dependent protein catabolic process nucleolus cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 34 BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151) CGCCCACGCGGAAGACCCGCT 0.592000 9 41 0 0 1 0 0 ACTB 60 broad.mit.edu 37 7 5567464 5567464 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:5567464G>C ENST00000331789.5 - 6 1234 c.1043C>G c.(1042-1044)tCg>tGg p.S348W ACTB_ENST00000464611.1_5'UTR NM_001101.3 NP_001092.1 P60709 ACTB_HUMAN actin, beta 348 'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2) 8 Ovarian(82;0.0606) UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37) GGTGGACAGCGAGGCCAGGAT 0.587000 34 137 0 0 1 0 0 FILIP1 27145 broad.mit.edu 37 6 76063265 76063265 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:76063265C>G ENST00000393004.2 - 4 840 c.619G>C c.(619-621)Gag>Cag p.E207Q FILIP1_ENST00000370020.1_Missense_Mutation_p.E108Q|FILIP1_ENST00000237172.7_Missense_Mutation_p.E207Q Q7Z7B0 FLIP1_HUMAN filamin A interacting protein 1 207 breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4) 80 CTCTCCCGCTCCTGCTCCAGC 0.527000 42 151 0 0 1 0 0 HIST1H4H 8365 broad.mit.edu 37 6 26285723 26285723 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:26285723G>C ENST00000289352.1 - 1 39 c.5C>G c.(4-6)tCt>tGt p.S2C HIST1H4H_ENST00000377727.1_Missense_Mutation_p.S2C P62805 H4_HUMAN histone cluster 1, H4h 2 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding p.S2C(1) lung(2)|ovary(2)|upper_aerodigestive_tract(3) 7 ACCACGGCCAGACATGACTAA 0.473000 HNSCC(76;0.23) 17 71 0 0 1 0 0 MIR521-1 574494 broad.mit.edu 37 19 54251893 54251893 + RNA SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:54251893C>T ENST00000384902.1 + 0 4 NR_030216.1 AAGAAGATCTCAGGCTGTGAC 0.413000 31 131 0 0 1 0 0 LRFN4 78999 broad.mit.edu 37 11 66627266 66627266 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:66627266C>G ENST00000309602.4 + 2 1751 c.1508C>G c.(1507-1509)tCg>tGg p.S503W LRFN4_ENST00000393952.3_Intron|PC_ENST00000393960.1_Intron|PC_ENST00000393955.2_Intron|PC_ENST00000393958.2_Intron NM_024036.4 NP_076941.2 Q6PJG9 LRFN4_HUMAN leucine rich repeat and fibronectin type III domain containing 4 503 integral to membrane p.S503L(1) breast(1)|lung(1)|prostate(1) 3 CTGCCGGCCTCGCCCCTGTGC 0.701000 4 26 0 0 1 0 0 DCDC2 51473 broad.mit.edu 37 6 24175047 24175047 + Nonsense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:24175047G>A ENST00000378454.3 - 10 1643 c.1342C>T c.(1342-1344)Caa>Taa p.Q448* DCDC2_ENST00000378450.3_Nonsense_Mutation_p.Q201* NM_001195610.1|NM_016356.3 NP_001182539.1|NP_057440.2 Q9UHG0 DCDC2_HUMAN doublecortin domain containing 2 448 cellular defense response|intracellular signal transduction|neuron migration breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 Ovarian(999;0.101) GGTGGTCTTTGAGGGTCTACA 0.353000 12 72 0 0 1 0 0 ZNF526 116115 broad.mit.edu 37 19 42728670 42728670 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:42728670G>A ENST00000301215.3 + 3 340 c.115G>A c.(115-117)Gag>Aag p.E39K NM_133444.1 NP_597701.1 Q8TF50 ZN526_HUMAN zinc finger protein 526 39 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3) 22 Prostate(69;0.0704) AGAAGTGACTGAGATGACACC 0.542000 49 123 0 0 1 0 0 SIPA1L3 23094 broad.mit.edu 37 19 38610244 38610244 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:38610244G>C ENST00000222345.6 + 9 3099 c.2590G>C c.(2590-2592)Gag>Cag p.E864Q NM_015073.1 NP_055888.1 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 3 864 regulation of small GTPase mediated signal transduction intracellular GTPase activator activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3) 59 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) GGCTGGCGCTGAGCAGCACAG 0.557000 33 76 0 0 1 0 0 IP6K1 9807 broad.mit.edu 37 3 49770264 49770264 + Silent SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:49770264C>G ENST00000321599.4 - 4 877 c.576G>C c.(574-576)ctG>ctC p.L192L IP6K1_ENST00000395238.1_Silent_p.L27L|IP6K1_ENST00000468463.1_Silent_p.L192L|IP6K1_ENST00000460540.1_Silent_p.L27L NM_001242829.1|NM_153273.3 NP_001229758.1|NP_695005.1 Q92551 IP6K1_HUMAN inositol hexakisphosphate kinase 1 192 phosphatidylinositol phosphorylation cytoplasm|nucleus ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|skin(2) 15 GCATGCGGCTCAGCTGCTGCT 0.567000 25 53 0 0 1 0 0 ACTR8 93973 broad.mit.edu 37 3 53908249 53908249 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:53908249G>C ENST00000335754.3 - 8 1154 c.1054C>G c.(1054-1056)Cat>Gat p.H352D ACTR8_ENST00000482349.1_Missense_Mutation_p.H241D|ACTR8_ENST00000231909.7_Intron NM_022899.4 NP_075050.3 Q9H981 ARP8_HUMAN ARP8 actin-related protein 8 homolog (yeast) 352 cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent Ino80 complex protein binding autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1) 19 BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111) TGATCTAAATGACAAAAAGTT 0.338000 16 39 0 0 1 0 0 MIS18A 54069 broad.mit.edu 37 21 33651219 33651219 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr21:33651219G>C ENST00000290130.3 - 1 161 c.107C>G c.(106-108)tCc>tGc p.S36C MIS18A-AS1_ENST00000453549.1_RNA NM_018944.2 NP_061817.1 Q9NYP9 MS18A_HUMAN MIS18 kinetochore protein A 36 cell division|CenH3-containing nucleosome assembly at centromere|mitosis chromosome, centromeric region|nucleoplasm breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2) 7 CGAGTCTTCGGAGAGTCTCTT 0.637000 16 57 0 0 1 0 0 MSANTD4 84437 broad.mit.edu 37 11 105880615 105880615 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:105880615C>T ENST00000301919.4 - 3 2100 c.685G>A c.(685-687)Gaa>Aaa p.E229K NM_032424.1 NP_115800.1 Q8NCY6 K1826_HUMAN Myb/SANT-like DNA-binding domain containing 4 with coiled-coils 229 nucleus CGTTCCTTTTCTACCTGCAGC 0.463000 17 85 0 0 1 0 0 GLRX3 10539 broad.mit.edu 37 10 131969878 131969878 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:131969878C>G ENST00000368644.1 + 8 824 c.802C>G c.(802-804)Ctg>Gtg p.L268V GLRX3_ENST00000331244.5_Missense_Mutation_p.L268V NM_001199868.1 NP_001186797.1 O76003 GLRX3_HUMAN glutaredoxin 3 268 Glutaredoxin 2. cell redox homeostasis|negative regulation of cardiac muscle hypertrophy|regulation of the force of heart contraction cell cortex electron carrier activity|iron-sulfur cluster binding|metal ion binding|protein disulfide oxidoreductase activity endometrium(1)|large_intestine(5)|lung(7) 13 all_cancers(35;9.59e-07)|all_epithelial(44;1.48e-06)|Lung NSC(174;0.00566)|all_lung(145;0.00949)|Colorectal(57;0.142)|all_neural(114;0.16)|Breast(234;0.173)|Glioma(114;0.222) OV - Ovarian serous cystadenocarcinoma(35;0.00218) CAAACAAATTCTGGAAATACT 0.343000 19 68 0 0 1 0 0 LONP1 9361 broad.mit.edu 37 19 5711936 5711936 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:5711936G>A ENST00000360614.3 - 4 873 c.716C>T c.(715-717)tCa>tTa p.S239L LONP1_ENST00000593119.1_Missense_Mutation_p.S175L|LONP1_ENST00000540670.2_Missense_Mutation_p.S43L|LONP1_ENST00000585374.1_Missense_Mutation_p.S125L|LONP1_ENST00000590729.1_Missense_Mutation_p.S125L NM_004793.2 NP_004784.2 P36776 LONM_HUMAN lon peptidase 1, mitochondrial 239 Lon. cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia mitochondrial nucleoid ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 GCCCCGCTTTGACTTCCTGCG 0.667000 27 65 0 0 1 0 0 PON1 5444 broad.mit.edu 37 7 94935662 94935662 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:94935662C>G ENST00000222381.3 - 7 946 c.715G>C c.(715-717)Gag>Cag p.E239Q PON1_ENST00000542556.1_Missense_Mutation_p.E239Q NM_000446.5 NP_000437.3 P27169 PON1_HUMAN paraoxonase 1 239 aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus spherical high-density lipoprotein particle aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2) 27 all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239) STAD - Stomach adenocarcinoma(171;0.0031) Atorvastatin(DB01076)|Cefazolin(DB01327) GCCAGCAACTCAGCTATATAG 0.353000 20 64 0 0 1 0 0 NKX2-2 4821 broad.mit.edu 37 20 21492922 21492922 + Nonsense_Mutation SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr20:21492922G>T ENST00000377142.4 - 2 817 c.461C>A c.(460-462)tCg>tAg p.S154* NKX2-2-AS1_ENST00000549659.1_RNA NM_002509.3 NP_002500.1 O95096 NKX22_HUMAN NK2 homeobox 2 154 brain development|positive regulation of sequence-specific DNA binding transcription factor activity nucleus chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 21 CTCGGGCGCCGACAGGTACCG 0.672000 9 33 1.12685e-05 1.14989e-05 1 1 0 SPTLC2 9517 broad.mit.edu 37 14 78063675 78063675 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:78063675C>T ENST00000216484.2 - 2 374 c.181G>A c.(181-183)Gaa>Aaa p.E61K NM_004863.3 NP_004854.1 O15270 SPTC2_HUMAN serine palmitoyltransferase, long chain base subunit 2 61 EAFE -> TLAR (in Ref. 5; AAC50871). integral to membrane|serine C-palmitoyltransferase complex pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5) 19 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0346) L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) TCAAAAGCTTCATTAAACGGT 0.383000 8 46 0 0 1 0 0 TCF20 6942 broad.mit.edu 37 22 42606970 42606970 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr22:42606970C>G ENST00000359486.3 - 1 4478 c.4342G>C c.(4342-4344)Gag>Cag p.E1448Q TCF20_ENST00000335626.4_Missense_Mutation_p.E1448Q NM_005650.1 NP_005641.1 Q9UGU0 TCF20_HUMAN transcription factor 20 (AR1) 1448 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5) 66 GCATGTGTCTCTGTCTTCACT 0.527000 52 158 0 0 1 0 0 MYH6 4624 broad.mit.edu 37 14 23863393 23863393 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:23863393C>G ENST00000405093.3 - 21 2639 c.2569G>C c.(2569-2571)Gag>Cag p.E857Q MYH6_ENST00000356287.3_Missense_Mutation_p.E857Q NM_002471.3 NP_002462.2 P13533 MYH6_HUMAN myosin, heavy chain 6, cardiac muscle, alpha 857 adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) CGCCCGAACTCTTCCTTCATG 0.567000 40 125 0 0 1 0 0 GTPBP2 54676 broad.mit.edu 37 6 43591732 43591732 + Missense_Mutation SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:43591732G>T ENST00000307126.5 - 8 1173 c.1174C>A c.(1174-1176)Ctg>Atg p.L392M GTPBP2_ENST00000476510.1_5'UTR|GTPBP2_ENST00000307114.7_Missense_Mutation_p.L304M NM_019096.3 NP_061969.3 Q9BX10 GTPB2_HUMAN GTP binding protein 2 392 GTP binding|GTPase activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)|urinary_tract(1) 18 all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004) all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167) AGTGGCGGCAGAATATTCAGA 0.512000 31 86 2.61193e-14 2.75821e-14 1 1 0 C12orf40 283461 broad.mit.edu 37 12 40037702 40037702 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:40037702G>C ENST00000324616.5 + 3 339 c.185G>C c.(184-186)tGc>tCc p.C62S C12orf40_ENST00000398716.1_5'UTR|C12orf40_ENST00000405531.3_Missense_Mutation_p.C62S NM_001031748.2 NP_001026918.2 Q86WS4 CL040_HUMAN chromosome 12 open reading frame 40 62 breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2) 38 CAGATATCTTGCAAGAAGAAA 0.294000 7 38 0 0 1 0 0 TNF 7124 broad.mit.edu 37 6 31544355 31544355 + Splice_Site SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:31544355C>T ENST00000449264.2 + 2 406 c.231C>T c.(229-231)gtC>gtT p.V77V NM_000594.3 NP_000585.2 P01375 TNFA_HUMAN tumor necrosis factor 77 Cleavage; by ADAM17. activation of caspase activity|activation of MAPK activity|activation of MAPKKK activity|anti-apoptosis|cellular response to nicotine|chronic inflammatory response to antigenic stimulus|embryonic digestive tract development|induction of apoptosis via death domain receptors|induction of necroptosis by extracellular signals|leukocyte tethering or rolling|necrotic cell death|negative regulation of branching involved in lung morphogenesis|negative regulation of cytokine secretion involved in immune response|negative regulation of fat cell differentiation|negative regulation of interleukin-6 production|negative regulation of lipid catabolic process|negative regulation of lipid storage|negative regulation of viral genome replication|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of chemokine biosynthetic process|positive regulation of chemokine production|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of fever generation|positive regulation of heterotypic cell-cell adhesion|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of membrane protein ectodomain proteolysis|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of NFAT protein import into nucleus|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of podosome assembly|positive regulation of protein complex disassembly|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|receptor biosynthetic process|regulation of insulin secretion|response to glucocorticoid stimulus|response to salt stress|response to virus|sequestering of triglyceride|transformed cell apoptosis|tumor necrosis factor-mediated signaling pathway external side of plasma membrane|extracellular space|integral to plasma membrane|membrane raft|phagocytic cup|recycling endosome cytokine activity|identical protein binding|protease binding|transcription regulatory region DNA binding|tumor necrosis factor receptor binding large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(3) 8 Ovarian(999;0.00556) Adalimumab(DB00051)|Adenosine(DB00640)|Amrinone(DB01427)|Atorvastatin(DB01076)|Chloroquine(DB00608)|Clenbuterol(DB01407)|Etanercept(DB00005)|Glucosamine(DB01296)|Infliximab(DB00065)|Naltrexone(DB00704)|Pranlukast(DB01411)|Procaterol(DB01366)|Saquinavir(DB01232)|Simvastatin(DB00641)|Thalidomide(DB01041) CCCAGGCAGTCAGTAAGTGTC 0.502000 Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of 38 112 0 0 1 0 0 NUTF2 10204 broad.mit.edu 37 16 67899100 67899100 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr16:67899100G>C ENST00000219169.4 + 2 350 c.67G>C c.(67-69)Gat>Cat p.D23H NUTF2_ENST00000569436.2_Missense_Mutation_p.D23H|NUTF2_ENST00000568396.2_Missense_Mutation_p.D23H NM_005796.1 NP_005787.1 P61970 NTF2_HUMAN nuclear transport factor 2 23 NTF2. protein transport cytosol|nuclear pore protein binding|transporter activity kidney(1)|lung(2)|upper_aerodigestive_tract(1) 4 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.00443)|Epithelial(162;0.0199)|all cancers(182;0.129) CCAGTTATTTGATAATGATAG 0.493000 16 49 0 0 1 0 0 SERPING1 710 broad.mit.edu 37 11 57373936 57373936 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:57373936C>T ENST00000403558.1 + 5 1440 c.1074C>T c.(1072-1074)ttC>ttT p.F358F SERPING1_ENST00000378324.2_Silent_p.F263F|SERPING1_ENST00000378323.4_Silent_p.F320F|SERPING1_ENST00000340687.6_Silent_p.F315F|SERPING1_ENST00000278407.4_Silent_p.F315F NM_001032295.1 NP_001027466.1 P05155 IC1_HUMAN serpin peptidase inhibitor, clade G (C1 inhibitor), member 1 315 blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation extracellular space|platelet alpha granule lumen protein binding|serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1) 27 CCTTTCACTTCAAAAACTCAG 0.423000 29 97 0 0 1 0 0 SLK 9748 broad.mit.edu 37 10 105762646 105762646 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:105762646G>C ENST00000369755.3 + 9 2255 c.1710G>C c.(1708-1710)caG>caC p.Q570H SLK_ENST00000335753.4_Missense_Mutation_p.Q570H NM_014720.2 NP_055535.2 Q9H2G2 SLK_HUMAN STE20-like kinase 570 Glu-rich. apoptosis|nucleotide-excision repair cytoplasm|plasma membrane ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2) 8 Colorectal(252;0.178) Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) AGGATACGCAGAGTAATGATG 0.443000 11 48 0 0 1 0 0 SEMA6C 10500 broad.mit.edu 37 1 151108595 151108595 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:151108595G>A ENST00000341697.3 - 13 2842 c.1151C>T c.(1150-1152)tCt>tTt p.S384F Q9H3T2 SEM6C_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C 384 Sema. integral to membrane receptor activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 28 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) GTCTCGGGAAGAGGAGAACAA 0.592000 13 77 0 0 1 0 0 TMEM63B 55362 broad.mit.edu 37 6 44107235 44107235 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:44107235G>A ENST00000259746.9 + 7 622 c.439G>A c.(439-441)Gat>Aat p.D147N TMEM63B_ENST00000323267.6_Missense_Mutation_p.D147N|TMEM63B_ENST00000527188.1_3'UTR Q5T3F8 TM63B_HUMAN transmembrane protein 63B 147 integral to membrane nucleotide binding|protein binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4) 35 all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215) ATGTGGGGGCGATGCCGTGCA 0.582000 21 73 0 0 1 0 0 R3HCC1L 27291 broad.mit.edu 37 10 99994257 99994257 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:99994257C>G ENST00000314594.5 + 8 2361 c.264C>G c.(262-264)ttC>ttG p.F88L R3HCC1L_ENST00000298999.3_Missense_Mutation_p.F672L|R3HCC1L_ENST00000370584.3_Missense_Mutation_p.F672L|R3HCC1L_ENST00000370586.2_Missense_Mutation_p.F78L NM_001256619.1 NP_001243548.1 R3H domain and coiled-coil containing 1-like TAGGAGTATTCTCCAGTCCAA 0.323000 15 44 0 0 1 0 0 FHDC1 85462 broad.mit.edu 37 4 153897464 153897464 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr4:153897464C>T ENST00000511601.1 + 12 3209 c.3021C>T c.(3019-3021)tcC>tcT p.S1007S FHDC1_ENST00000260008.3_Silent_p.S1007S Q9C0D6 FHDC1_HUMAN FH2 domain containing 1 1007 actin cytoskeleton organization actin binding ARFIP1/FHDC1(2) NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 43 all_hematologic(180;0.093) GCGCCCACTCCGAGGGCCCTG 0.622000 23 83 0 0 1 0 0 SGK223 157285 broad.mit.edu 37 8 8175697 8175697 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:8175697C>T ENST00000520004.1 - 6 4452 c.4188G>A c.(4186-4188)ctG>ctA p.L1396L SGK223_ENST00000330777.4_Silent_p.L1396L Q86YV5 SG223_HUMAN 1396 ATP binding|non-membrane spanning protein tyrosine kinase activity GCAGGAGCTTCAGCGACTGTA 0.657000 26 57 0 0 1 0 0 TCHH 7062 broad.mit.edu 37 1 152085023 152085023 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:152085023C>T ENST00000368804.1 - 2 669 c.670G>A c.(670-672)Gag>Aag p.E224K NM_007113.2 NP_009044.2 Q07283 TRHY_HUMAN trichohyalin 224 keratinization cytoskeleton calcium ion binding NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4) 105 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGTTTCTCCTCGCGGCCCTTC 0.572000 68 229 0 0 1 0 0 CDK16 5127 broad.mit.edu 37 X 47082968 47082968 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chrX:47082968G>A ENST00000457458.2 + 2 450 c.30G>A c.(28-30)atG>atA p.M10I CDK16_ENST00000518022.1_Missense_Mutation_p.M4I|CDK16_ENST00000357227.4_Missense_Mutation_p.M4I|CDK16_ENST00000276052.6_Missense_Mutation_p.M78I NM_033018.3 NP_148978.2 Q00536 CDK16_HUMAN cyclin-dependent kinase 16 4 ATP binding|cyclin-dependent protein kinase activity|protein binding breast(1)|endometrium(3)|large_intestine(4)|lung(3) 11 TGGATCGGATGAAGAAGATCA 0.527000 13 13 0 0 1 0 0 C1orf106 55765 broad.mit.edu 37 1 200880791 200880791 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:200880791C>T ENST00000367342.4 + 9 1625 c.1425C>T c.(1423-1425)ccC>ccT p.P475P C1orf106_ENST00000413687.2_Silent_p.P390P NM_018265.3 NP_060735.3 Q3KP66 CA106_HUMAN chromosome 1 open reading frame 106 475 endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2) 21 GCAGCAGCCCCGACATCTCCT 0.692000 76 180 0 0 1 0 0 GUCY1A2 2977 broad.mit.edu 37 11 106888480 106888480 + Splice_Site SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:106888480G>A ENST00000526355.2 - 1 770 c.302C>T c.(301-303)tCg>tTg p.S101L GUCY1A2_ENST00000282249.2_Splice_Site_p.S101L|GUCY1A2_ENST00000347596.2_Splice_Site_p.S101L NM_000855.2 NP_000846.1 P33402 GCYA2_HUMAN guanylate cyclase 1, soluble, alpha 2 intracellular signal transduction|platelet activation cytoplasm GTP binding|guanylate cyclase activity|heme binding breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 74 all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068) BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476) CCCGCTCACCGAGGGCGCCGT 0.756000 6 11 0 0 1 0 0 GALNT6 11226 broad.mit.edu 37 12 51773340 51773340 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:51773340G>C ENST00000543196.2 - 2 431 c.226C>G c.(226-228)Cca>Gca p.P76A GALNT6_ENST00000356317.3_Missense_Mutation_p.P76A Q8NCL4 GALT6_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6) 76 protein O-linked glycosylation Golgi membrane|integral to membrane|perinuclear region of cytoplasm polypeptide N-acetylgalactosaminyltransferase activity|sugar binding endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 27 TGGGCTTCTGGAGCCCTGATT 0.562000 42 91 0 0 1 0 0 ARL4C 10123 broad.mit.edu 37 2 235404739 235404739 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:235404739G>A ENST00000390645.2 - 1 958 c.492C>T c.(490-492)atC>atT p.I164I ARL4C_ENST00000339728.3_Silent_p.I164I NM_005737.3 NP_005728.2 P56559 ARL4C_HUMAN ADP-ribosylation factor-like 4C 164 endocytic recycling|small GTPase mediated signal transduction cytoplasm|filopodium|nucleus|plasma membrane alpha-tubulin binding|GTP binding|GTPase activity endometrium(1)|ovary(1)|skin(1)|urinary_tract(1) 4 Breast(86;0.000596)|Renal(207;0.00339)|all_lung(227;0.00354)|all_hematologic(139;0.0494)|Lung NSC(271;0.0496)|Lung SC(224;0.164)|all_neural(83;0.173) Epithelial(121;2.6e-19)|BRCA - Breast invasive adenocarcinoma(100;0.000296)|Lung(119;0.002)|LUSC - Lung squamous cell carcinoma(224;0.0048) GGCCCTCGCCGATGATGGCGC 0.617000 18 57 0 0 1 0 0 FILIP1 27145 broad.mit.edu 37 6 76023801 76023801 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:76023801C>T ENST00000393004.2 - 5 1968 c.1747G>A c.(1747-1749)Gaa>Aaa p.E583K FILIP1_ENST00000370020.1_Missense_Mutation_p.E484K|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Missense_Mutation_p.E583K Q7Z7B0 FLIP1_HUMAN filamin A interacting protein 1 583 breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4) 80 GATTTTTCTTCTTCACTTTTC 0.338000 23 50 0 0 1 0 0 TSPAN7 7102 broad.mit.edu 37 X 38525537 38525537 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chrX:38525537C>T ENST00000378482.2 + 2 421 c.244C>T c.(244-246)Cgt>Tgt p.R82C TSPAN7_ENST00000488893.1_3'UTR|TSPAN7_ENST00000286824.6_Missense_Mutation_p.R99C|TSPAN7_ENST00000422612.2_Missense_Mutation_p.R108C|TSPAN7_ENST00000545599.1_Missense_Mutation_p.R56C|TM4SF2_ENST00000465127.1_Missense_Mutation_p.R112C NM_004615.3 NP_004606.2 P41732 TSN7_HUMAN tetraspanin 7 82 interspecies interaction between organisms integral to plasma membrane p.R82C(1)|p.R77C(1) haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1) 11 TGCTACATGTCGTGGTAGCCC 0.418000 11 23 0 0 1 0 0 GPR97 222487 broad.mit.edu 37 16 57710248 57710248 + Nonsense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr16:57710248C>T ENST00000333493.4 + 3 504 c.343C>T c.(343-345)Cag>Tag p.Q115* GPR97_ENST00000327655.6_5'UTR|GPR97_ENST00000450388.3_Intron NM_170776.4 NP_740746.4 Q86Y34 GPR97_HUMAN G protein-coupled receptor 97 115 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 30 GGAGCCCTCTCAGGTGAAGAG 0.473000 23 67 0 0 1 0 0 SLC33A1 9197 broad.mit.edu 37 3 155571672 155571672 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:155571672G>A ENST00000392845.3 - 1 495 c.115C>T c.(115-117)Cat>Tat p.H39Y SLC33A1_ENST00000359479.3_Missense_Mutation_p.H39Y O00400 ACATN_HUMAN solute carrier family 33 (acetyl-CoA transporter), member 1 cell death|transmembrane transport endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction acetyl-CoA transporter activity endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1) 22 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) GAGTCCAAATGACTGTCATCC 0.612000 22 59 0 0 1 0 0 C15orf56 644809 broad.mit.edu 37 15 40544648 40544648 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr15:40544648C>T ENST00000319503.3 - 2 345 c.324G>A c.(322-324)ccG>ccA p.P108P PAK6_ENST00000260404.4_Intron|PAK6_ENST00000441369.1_Intron|PAK6_ENST00000560346.1_Intron|C15orf56_ENST00000559727.1_3'UTR|RP11-133K1.2_ENST00000558658.1_Intron|PAK6_ENST00000453867.1_Intron|PAK6_ENST00000455577.2_Intron NM_001039905.1 NP_001034994.1 Q8N910 CO056_HUMAN chromosome 15 open reading frame 56 108 lung(1) 1 all_cancers(109;1.62e-14)|all_epithelial(112;7.09e-12)|Lung NSC(122;3.4e-09)|all_lung(180;6.88e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;2.28e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0503) CGGCGCCCCTCGGGCAGAGGG 0.706000 5 31 0 0 1 0 0 GCNT3 9245 broad.mit.edu 37 15 59910809 59910809 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr15:59910809G>A ENST00000396065.1 + 3 820 c.372G>A c.(370-372)ctG>ctA p.L124L GCNT3_ENST00000560585.1_Silent_p.L124L NM_004751.2 NP_004742.1 O95395 GCNT3_HUMAN glucosaminyl (N-acetyl) transferase 3, mucin type 124 protein O-linked glycosylation Golgi membrane|integral to membrane|membrane fraction beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 AGTTCCCACTGAGCAAAGAAG 0.473000 20 58 0 0 1 0 0 TOE1 114034 broad.mit.edu 37 1 45809319 45809319 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:45809319C>T ENST00000372090.5 + 8 2061 c.1478C>T c.(1477-1479)tCt>tTt p.S493F TOE1_ENST00000539779.1_Missense_Mutation_p.S413F|TOE1_ENST00000495703.1_3'UTR NM_025077.3 NP_079353.3 Q96GM8 TOE1_HUMAN target of EGR1, member 1 (nuclear) 493 nuclear speck|nucleolus nucleic acid binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1) 11 Acute lymphoblastic leukemia(166;0.155) AGCCAGTTCTCTCGTTCCTCC 0.532000 28 90 0 0 1 0 0 KIF26B 55083 broad.mit.edu 37 1 245765916 245765916 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:245765916G>C ENST00000366518.4 + 3 349 c.245G>C c.(244-246)cGa>cCa p.R82P KIF26B_ENST00000407071.2_Missense_Mutation_p.R463P Q2KJY2 KI26B_HUMAN kinesin family member 26B 463 Gly-rich. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127) OV - Ovarian serous cystadenocarcinoma(106;0.022) ACCTTGGCTCGAGATACTTCA 0.488000 10 25 0 0 1 0 0 CCDC88A 55704 broad.mit.edu 37 2 55523455 55523455 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:55523455C>T ENST00000436346.1 - 30 5871 c.5030G>A c.(5029-5031)gGa>gAa p.G1677E CCDC88A_ENST00000422883.2_Missense_Mutation_p.G178E|CCDC88A_ENST00000263630.8_Missense_Mutation_p.G1649E|CCDC88A_ENST00000413716.2_Missense_Mutation_p.G1676E|CCDC88A_ENST00000336838.6_Missense_Mutation_p.G1676E NM_001135597.1|NM_001254943.1 NP_001129069.1|NP_001241872.1 Q3V6T2 GRDN_HUMAN coiled-coil domain containing 88A 1677 activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1) 69 AACTTCACTTCCAGGGGAACC 0.398000 16 54 0 0 1 0 0 SLC35A3 23443 broad.mit.edu 37 1 100464840 100464840 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:100464840C>G ENST00000465289.1 + 3 603 c.211C>G c.(211-213)Cga>Gga p.R71G SLC35A3_ENST00000370156.3_3'UTR|SLC35A3_ENST00000370155.3_Missense_Mutation_p.R71G|SLC35A3_ENST00000370153.1_Missense_Mutation_p.R113G|SLC35A3_ENST00000427993.2_Missense_Mutation_p.R71G NM_001271684.1 NP_001258613.1 Q9Y2D2 S35A3_HUMAN solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3 71 UDP-N-acetylglucosamine metabolic process Golgi membrane|integral to membrane sugar:hydrogen symporter activity|UDP-N-acetylglucosamine transmembrane transporter activity biliary_tract(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1) 11 all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155) Epithelial(280;0.124)|all cancers(265;0.198)|Lung(183;0.199) AGCACTGAATCGAGTACTACA 0.308000 14 25 0 0 1 0 0 TMEM178A 130733 broad.mit.edu 37 2 39893156 39893156 + Silent SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:39893156C>G ENST00000281961.2 + 1 98 c.42C>G c.(40-42)ctC>ctG p.L14L TMEM178A_ENST00000482239.1_Intron NM_152390.2 NP_689603.2 transmembrane protein 178A GCCTCGGCCTCAGCCTGTGCT 0.741000 6 19 0 0 1 0 0 PTPRJ 5795 broad.mit.edu 37 11 48161324 48161324 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:48161324C>T ENST00000418331.2 + 11 2791 c.2439C>T c.(2437-2439)atC>atT p.I813I NM_002843.3 NP_002834.3 Q12913 PTPRJ_HUMAN protein tyrosine phosphatase, receptor type, J 813 contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 52 CTACTGGCATCACAGGTGGGC 0.542000 10 27 0 0 1 0 0 ACE 1636 broad.mit.edu 37 17 61560831 61560831 + Nonsense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:61560831C>T ENST00000290866.4 + 10 1522 c.1498C>T c.(1498-1500)Cag>Tag p.Q500* ACE_ENST00000584529.1_3'UTR|ACE_ENST00000428043.1_Nonsense_Mutation_p.Q500*|ACE_ENST00000538928.1_Silent_p.I451I NM_000789.3 NP_000780.1 P12821 ACE_HUMAN angiotensin I converting enzyme 500 Peptidase M2 1. arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 51 Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519) AACCAAGTATCAGGGGATCTG 0.448000 23 76 0 0 1 0 0 COASY 80347 broad.mit.edu 37 17 40716787 40716787 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:40716787G>C ENST00000393818.2 + 4 1564 c.1108G>C c.(1108-1110)Ggg>Cgg p.G370R COASY_ENST00000590958.1_Missense_Mutation_p.G399R|COASY_ENST00000449624.1_Missense_Mutation_p.G75R|COASY_ENST00000421097.2_Missense_Mutation_p.G370R|COASY_ENST00000420359.1_Missense_Mutation_p.G370R NM_025233.6 NP_079509.5 Q13057 COASY_HUMAN CoA synthase 370 DPCK. coenzyme A biosynthetic process|pantothenate metabolic process mitochondrial outer membrane ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1) 21 all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344) BRCA - Breast invasive adenocarcinoma(366;0.13) CAGTGGCTCTGGGAAGAGCTC 0.587000 56 153 0 0 1 0 0 AGO2 27161 broad.mit.edu 37 8 141568637 141568637 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:141568637C>T ENST00000220592.5 - 7 937 c.825G>A c.(823-825)atG>atA p.M275I AGO2_ENST00000519980.1_Missense_Mutation_p.M275I NM_012154.3 NP_036286.2 argonaute RISC catalytic component 2 ACTTCCTCTTCATCTGCCCAC 0.612000 30 108 0 0 1 0 0 MUC15 143662 broad.mit.edu 37 11 26586972 26586972 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:26586972G>C ENST00000436318.2 - 2 648 c.515C>G c.(514-516)tCt>tGt p.S172C MUC15_ENST00000281268.8_Missense_Mutation_p.S172C|MUC15_ENST00000455601.2_Missense_Mutation_p.S145C|MUC15_ENST00000529533.1_Missense_Mutation_p.S172C|ANO3_ENST00000531568.1_Intron|ANO3_ENST00000525139.1_Intron|ANO3_ENST00000537978.1_Intron|MUC15_ENST00000527569.1_Missense_Mutation_p.S172C|ANO3_ENST00000256737.3_Intron Q8N387 MUC15_HUMAN mucin 15, cell surface associated 145 extracellular region|integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 25 GTTTTCTGAAGACAGAGCAGG 0.428000 35 122 0 0 1 0 0 PMEL 6490 broad.mit.edu 37 12 56349424 56349424 + Nonsense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:56349424G>C ENST00000548747.1 - 9 2248 c.1586C>G c.(1585-1587)tCa>tGa p.S529* PMEL_ENST00000536427.1_Nonsense_Mutation_p.S487*|PMEL_ENST00000550447.1_Nonsense_Mutation_p.S158*|PMEL_ENST00000449260.2_Nonsense_Mutation_p.S529*|PMEL_ENST00000548493.1_Nonsense_Mutation_p.S529*|PMEL_ENST00000360714.4_Nonsense_Mutation_p.S529*|PMEL_ENST00000550464.1_Nonsense_Mutation_p.S443*|PMEL_ENST00000539511.1_Nonsense_Mutation_p.S443*|PMEL_ENST00000552882.1_Nonsense_Mutation_p.S529* P40967 PMEL_HUMAN premelanosome protein 529 melanin biosynthetic process|melanosome organization endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane protein binding NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 CCCTGGCGATGAGATCTCCAT 0.597000 16 86 0 0 1 0 0 PLXNA1 5361 broad.mit.edu 37 3 126722265 126722265 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:126722265C>T ENST00000251772.4 + 3 1470 c.1401C>T c.(1399-1401)ctC>ctT p.L467L PLXNA1_ENST00000393409.2_Silent_p.L490L Q9UIW2 PLXA1_HUMAN plexin A1 490 Sema. axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 67 GBM - Glioblastoma multiforme(114;0.155) TGCGAGACCTCGTCCTCAGCC 0.672000 25 63 0 0 1 0 0 PDE4DIP 9659 broad.mit.edu 37 1 144876029 144876029 + Splice_Site SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:144876029C>G ENST00000369359.4 - 32 5098 c.e32-1 PDE4DIP_ENST00000530740.1_Splice_Site|PDE4DIP_ENST00000369356.4_Splice_Site|PDE4DIP_ENST00000313382.9_Splice_Site|PDE4DIP_ENST00000369354.3_Splice_Site|PDE4DIP_ENST00000524974.1_Splice_Site|RP4-791M13.5_ENST00000531288.1_RNA Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein 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) TTATGATCCTCTGTAAACCAA 0.458000 T PDGFRB MPD 37 288 0 0 1 0 0 STARD8 9754 broad.mit.edu 37 X 67938374 67938374 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chrX:67938374G>A ENST00000252336.6 + 5 1750 c.1378G>A c.(1378-1380)Gag>Aag p.E460K STARD8_ENST00000374599.3_Missense_Mutation_p.E540K|STARD8_ENST00000374597.3_Missense_Mutation_p.E460K NM_014725.4 NP_055540.2 Q92502 STAR8_HUMAN StAR-related lipid transfer (START) domain containing 8 460 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|focal adhesion GTPase activator activity NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2) 50 CTCCATGAATGAGGCTGAGGC 0.592000 14 14 0 0 1 0 0 DZIP3 9666 broad.mit.edu 37 3 108403160 108403160 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:108403160C>T ENST00000361582.3 + 27 3211 c.2981C>T c.(2980-2982)tCt>tTt p.S994F DZIP3_ENST00000463306.1_Missense_Mutation_p.S994F NM_014648.3 NP_055463.1 Q86Y13 DZIP3_HUMAN DAZ interacting zinc finger protein 3 994 protein polyubiquitination cytoplasm polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 45 GGAGTCGTCTCTGCAACTGGC 0.433000 48 222 0 0 1 0 0 SPIDR 23514 broad.mit.edu 37 8 48641546 48641546 + Silent SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:48641546C>G ENST00000297423.4 + 18 2871 c.2487C>G c.(2485-2487)ctC>ctG p.L829L SPIDR_ENST00000518074.1_Silent_p.L769L|SPIDR_ENST00000518060.1_Silent_p.L31L|SPIDR_ENST00000517693.1_Silent_p.L304L|SPIDR_ENST00000541342.1_Silent_p.L759L|SPIDR_ENST00000521214.1_3'UTR NM_001080394.2|NM_001282916.1 NP_001073863.1|NP_001269845.1 scaffolding protein involved in DNA repair CTCCTGTTCTCAAGAGGCACC 0.592000 15 78 0 0 1 0 0 KMT2B 9757 broad.mit.edu 37 19 36221766 36221766 + Nonsense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:36221766C>G ENST00000222270.7 + 26 5435 c.5435C>G c.(5434-5436)tCa>tGa p.S1812* KMT2B_ENST00000607650.1_RNA|KMT2B_ENST00000420124.1_Nonsense_Mutation_p.S1812* NM_014727.1 NP_055542.1 lysine (K)-specific methyltransferase 2B GCCCCTTCCTCAGGTGTGGCT 0.572000 9 12 0 0 1 0 0 GRIPAP1 56850 broad.mit.edu 37 X 48846411 48846411 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chrX:48846411G>A ENST00000376423.4 - 8 568 c.536C>T c.(535-537)tCc>tTc p.S179F GRIPAP1_ENST00000376425.3_Missense_Mutation_p.S232F|GRIPAP1_ENST00000473581.1_5'UTR|GRIPAP1_ENST00000376444.3_Missense_Mutation_p.S187F|GRIPAP1_ENST00000376441.1_Missense_Mutation_p.S232F Q4V328 GRAP1_HUMAN GRIP1 associated protein 1 232 early endosome breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2) 10 CAGTTTCTCGGAGAGCTGGGG 0.368000 6 5 0 0 1 0 0 KCTD11 147040 broad.mit.edu 37 17 7256927 7256927 + Silent SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:7256927C>G ENST00000333751.3 + 1 1720 c.666C>G c.(664-666)ctC>ctG p.L222L RP11-542C16.1_ENST00000572417.1_RNA NM_001002914.2 NP_001002914.1 Q693B1 KCD11_HUMAN potassium channel tetramerization domain containing 11 222 cell cycle|regulation of growth voltage-gated potassium channel complex voltage-gated potassium channel activity kidney(1)|large_intestine(2)|lung(1) 4 Prostate(122;0.157) AAGACCTGCTCAACTCCAGGT 0.602000 19 44 0 0 1 0 0 DENND4C 55667 broad.mit.edu 37 9 19346457 19346457 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:19346457G>C ENST00000380432.2 + 18 2868 c.2835G>C c.(2833-2835)aaG>aaC p.K945N DENND4C_ENST00000434457.2_Missense_Mutation_p.K1230N|DENND4C_ENST00000602925.1_Missense_Mutation_p.K1181N Q5VZ89 DEN4C_HUMAN DENN/MADD domain containing 4C 945 integral to membrane breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 TGAGGAATAAGAGAAGTAGTT 0.378000 12 70 0 0 1 0 0 FMNL2 114793 broad.mit.edu 37 2 153399292 153399292 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:153399292C>G ENST00000288670.9 + 3 608 c.241C>G c.(241-243)Caa>Gaa p.Q81E NM_052905.3 NP_443137.2 Q96PY5 FMNL2_HUMAN formin-like 2 81 GBD/FH3. actin cytoskeleton organization cytoplasm actin binding|Rho GTPase binding central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 23 TACATACATTCAAAAGCTCAA 0.438000 10 36 0 0 1 0 0 SSTR1 6751 broad.mit.edu 37 14 38679239 38679239 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:38679239C>T ENST00000267377.2 + 3 1262 c.645C>T c.(643-645)ccC>ccT p.P215P NM_001049.2 NP_001040.1 P30872 SSR1_HUMAN somatostatin receptor 1 215 digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient integral to plasma membrane somatostatin receptor activity breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00444) Octreotide(DB00104) TGCCAGAGCCCGCTCAACGCT 0.607000 26 81 0 0 1 0 0 ZNF529 57711 broad.mit.edu 37 19 37038408 37038408 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:37038408G>A ENST00000334116.7 - 6 1347 c.737C>T c.(736-738)tCa>tTa p.S246L ZNF529_ENST00000591340.1_Missense_Mutation_p.S351L NM_001145650.1 NP_001139122.1 Q6P280 ZN529_HUMAN zinc finger protein 529 318 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 Esophageal squamous(110;0.198) AATGAGCTGTGAACTAATTCT 0.398000 19 46 0 0 1 0 0 DAB2IP 153090 broad.mit.edu 37 9 124522678 124522678 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:124522678C>G ENST00000408936.3 + 6 1312 c.1130C>G c.(1129-1131)tCt>tGt p.S377C DAB2IP_ENST00000259371.2_Missense_Mutation_p.S349C|DAB2IP_ENST00000309989.1_Missense_Mutation_p.S253C Q5VWQ8 DAB2P_HUMAN DAB2 interacting protein 377 Ras-GAP. activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter cytoplasm|intrinsic to internal side of plasma membrane 14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 27 GAGATGGCATCTGCCCTGGTG 0.622000 12 38 0 0 1 0 0 ATP2B2 491 broad.mit.edu 37 3 10382201 10382201 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:10382201G>A ENST00000397077.1 - 19 3545 c.2970C>T c.(2968-2970)atC>atT p.I990I ATP2B2_ENST00000383800.4_Silent_p.I990I|ATP2B2_ENST00000352432.4_Silent_p.I1035I|ATP2B2_ENST00000343816.4_Silent_p.I1021I|ATP2B2_ENST00000360273.2_Silent_p.I1035I Q01814 AT2B2_HUMAN ATPase, Ca++ transporting, plasma membrane 2 1035 ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation cytosol|integral to membrane|plasma membrane ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2) 74 TGCCCAGCACGATGGTGCAGA 0.627000 41 116 0 0 1 0 0 ZNF773 374928 broad.mit.edu 37 19 58011448 58011448 + Translation_Start_Site SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:58011448G>A ENST00000599847.1 + 0 142 AC003005.4_ENST00000601674.1_Intron|ZNF773_ENST00000282292.4_De_novo_Start_InFrame|ZNF773_ENST00000593916.1_De_novo_Start_InFrame|ZNF773_ENST00000598770.1_De_novo_Start_InFrame Q6PK81 ZN773_HUMAN zinc finger protein 773 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 22 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254) CACAGGCTCCGATGGCGGCGG 0.721000 10 18 0 0 1 0 0 NXF1 10482 broad.mit.edu 37 11 62563952 62563952 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:62563952G>A ENST00000532297.1 - 15 1895 c.1266C>T c.(1264-1266)ttC>ttT p.F422F NXF1_ENST00000294172.2_Silent_p.F422F|NXF1_ENST00000533048.1_5'UTR|NXF1_ENST00000531709.2_3'UTR Q9UBU9 NXF1_HUMAN nuclear RNA export factor 1 422 NTF2. gene expression|interspecies interaction between organisms cytosol|nuclear speck nucleotide binding|protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 TCTGAGGAATGAAAGGAATGC 0.547000 31 135 0 0 1 0 0 CCKAR 886 broad.mit.edu 37 4 26483793 26483793 + Splice_Site SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr4:26483793C>T ENST00000295589.3 - 5 949 c.e5-1 NM_000730.2 NP_000721.1 P32238 CCKAR_HUMAN cholecystokinin A receptor activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient integral to plasma membrane cholecystokinin receptor activity NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1) 29 Breast(46;0.0503) Ceruletide(DB00403) GGTTTCCTTTCTGGGTGGGCA 0.577000 23 83 0 0 1 0 0 ABCA10 10349 broad.mit.edu 37 17 67152011 67152011 + Missense_Mutation SNP C C G rs140554607 TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:67152011C>G ENST00000269081.4 - 30 4420 c.3511G>C c.(3511-3513)Gat>Cat p.D1171H ABCA10_ENST00000416101.2_3'UTR|ABCA10_ENST00000519732.1_5'UTR NM_080282.3 NP_525021.3 Q8WWZ4 ABCAA_HUMAN ATP-binding cassette, sub-family A (ABC1), member 10 1171 transport integral to membrane ATP binding|ATPase activity breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4) 81 Breast(10;6.95e-12) ACATCTTCATCTTCTTCTTCG 0.423000 18 95 0 0 1 0 0 TMEM175 84286 broad.mit.edu 37 4 952220 952220 + Missense_Mutation SNP A A C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr4:952220A>C ENST00000264771.4 + 11 1636 c.1451A>C c.(1450-1452)cAc>cCc p.H484P TMEM175_ENST00000515740.1_Missense_Mutation_p.H368P|TMEM175_ENST00000508204.1_Missense_Mutation_p.H402P NM_032326.2 NP_115702.1 Q9BSA9 TM175_HUMAN transmembrane protein 175 484 integral to membrane p.H484P(1) NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3) 14 OV - Ovarian serous cystadenocarcinoma(23;0.0158) CGGCCCGAACACCCCCCGCCA 0.736000 7 20 0 0 1 0 0 ANKHD1 54882 broad.mit.edu 37 5 139907514 139907514 + Missense_Mutation SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:139907514G>T ENST00000297183.6 + 28 5268 c.5144G>T c.(5143-5145)gGa>gTa p.G1715V ANKHD1_ENST00000360839.2_Missense_Mutation_p.G1715V|ANKHD1_ENST00000544120.1_Missense_Mutation_p.G98V|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.G1715V NM_020690.5 NP_065741.3 ankyrin repeat and KH domain containing 1 breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGAAGAGGAGGATGCAACATC 0.378000 8 29 0.000274275 0.000277878 1 1 0 POU3F4 5456 broad.mit.edu 37 X 82763834 82763834 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chrX:82763834G>A ENST00000373200.2 + 1 566 c.502G>A c.(502-504)Gag>Aag p.E168K RP3-326L13.2_ENST00000607095.1_RNA NM_000307.3 NP_000298 P49335 PO3F4_HUMAN POU class 3 homeobox 4 168 sensory perception of sound nucleus sequence-specific DNA binding transcription factor activity breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 37 GGTGCTCCGAGAGCCCCCGGA 0.637000 10 6 0 0 1 0 0 SPOCK1 6695 broad.mit.edu 37 5 136403437 136403437 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:136403437G>A ENST00000394945.1 - 6 725 c.556C>T c.(556-558)Cct>Tct p.P186S SPOCK1_ENST00000282223.7_Missense_Mutation_p.P186S NM_004598.3 NP_004589.1 Q08629 TICN1_HUMAN sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1 186 cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction proteinaceous extracellular matrix calcium ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1) 18 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GGTGGCTCAGGCTCTGGGAGA 0.547000 37 92 0 0 1 0 0 SLC2A12 154091 broad.mit.edu 37 6 134350213 134350213 + Silent SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:134350213G>C ENST00000275230.5 - 2 905 c.750C>G c.(748-750)ctC>ctG p.L250L NM_145176.2 NP_660159.1 Q8TD20 GTR12_HUMAN solute carrier family 2 (facilitated glucose transporter), member 12 250 endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane D-glucose transmembrane transporter activity NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 17 Breast(56;0.214)|Colorectal(23;0.221) OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123) TGATCACAGTGAGTTCCTCAG 0.443000 18 67 0 0 1 0 0 EZH1 2145 broad.mit.edu 37 17 40864325 40864325 + Silent SNP C C A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:40864325C>A ENST00000428826.2 - 12 1504 c.1383G>T c.(1381-1383)ggG>ggT p.G461G EZH1_ENST00000592743.1_Silent_p.G461G|EZH1_ENST00000415827.2_Silent_p.G452G|EZH1_ENST00000590078.1_Silent_p.G391G|EZH1_ENST00000435174.1_Silent_p.G322G|EZH1_ENST00000585893.1_Silent_p.G421G Q92800 EZH1_HUMAN enhancer of zeste homolog 1 (Drosophila) 461 anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex chromatin binding|DNA binding breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2) 27 Breast(137;0.00104) BRCA - Breast invasive adenocarcinoma(366;0.0784) ACGTCTTGGTCCCCAGAAGCC 0.532000 24 94 1.96895e-08 2.04988e-08 1 1 0 ACLY 47 broad.mit.edu 37 17 40068700 40068700 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:40068700C>T ENST00000352035.2 - 3 385 c.255G>A c.(253-255)ctG>ctA p.L85L ACLY_ENST00000353196.1_Silent_p.L85L|ACLY_ENST00000590151.1_Silent_p.L85L|ACLY_ENST00000537919.1_Silent_p.L85L|ACLY_ENST00000393896.2_Silent_p.L85L NM_001096.2 NP_001087.2 P53396 ACLY_HUMAN ATP citrate lyase 85 ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process citrate lyase complex|cytosol|nucleus ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity NTN1/ACLY(2) breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 28 Breast(137;0.000143) GCCGTGGCTTCAGCCAGGACT 0.547000 25 109 0 0 1 0 0 JMJD1C 221037 broad.mit.edu 37 10 64952854 64952854 + Nonsense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:64952854G>A ENST00000399262.2 - 16 6138 c.5920C>T c.(5920-5922)Cag>Tag p.Q1974* JMJD1C_ENST00000402544.1_Nonsense_Mutation_p.Q1737*|JMJD1C_ENST00000399251.1_3'UTR|JMJD1C_ENST00000542921.1_Nonsense_Mutation_p.Q1792* NM_032776.1 NP_116165.1 Q15652 JHD2C_HUMAN jumonji domain containing 1C 1974 blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3) 77 Prostate(12;0.0119)|all_hematologic(501;0.191) TTTTGCTGCTGAGACTCAGGC 0.393000 19 59 0 0 1 0 0 P4HTM 54681 broad.mit.edu 37 3 49027929 49027929 + Silent SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:49027929C>G ENST00000343546.4 + 1 608 c.240C>G c.(238-240)ctC>ctG p.L80L P4HTM_ENST00000383729.4_Silent_p.L80L|P4HTM_ENST00000609406.1_3'UTR NM_177938.2 NP_808807.2 Q9NXG6 P4HTM_HUMAN prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum) 80 endoplasmic reticulum membrane|integral to membrane calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 21 Vitamin C(DB00126) CGCTGCTGCTCTTCGTGCACT 0.682000 14 33 0 0 1 0 0 TMC3 342125 broad.mit.edu 37 15 81660670 81660670 + Splice_Site SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr15:81660670C>T ENST00000558726.1 - 3 372 c.e3-1 TMC3_ENST00000359440.5_Splice_Site Q7Z5M5 TMC3_HUMAN transmembrane channel-like 3 integral to membrane autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 34 CTTCGCTTGTCTAAGAGAAGA 0.438000 58 195 0 0 1 0 0 PLEC 5339 broad.mit.edu 37 8 145003979 145003979 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:145003979C>G ENST00000322810.4 - 23 3338 c.3169G>C c.(3169-3171)Gag>Cag p.E1057Q PLEC_ENST00000354958.2_Missense_Mutation_p.E898Q|PLEC_ENST00000354589.3_Missense_Mutation_p.E920Q|PLEC_ENST00000398774.2_Missense_Mutation_p.E888Q|PLEC_ENST00000356346.3_Missense_Mutation_p.E906Q|PLEC_ENST00000436759.2_Missense_Mutation_p.E947Q|PLEC_ENST00000357649.2_Missense_Mutation_p.E924Q|PLEC_ENST00000345136.3_Missense_Mutation_p.E920Q|PLEC_ENST00000527096.1_Missense_Mutation_p.E943Q NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 1057 Globular 1. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 CGCTGCTCCTCTGGCTTCAGG 0.706000 9 23 0 0 1 0 0 DPYD 1806 broad.mit.edu 37 1 97915689 97915689 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:97915689C>T ENST00000370192.3 - 14 1931 c.1831G>A c.(1831-1833)Gag>Aag p.E611K NM_000110.3 NP_000101 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase 611 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 83 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) CTGATGAGCTCAATATTCAGA 0.448000 19 81 0 0 1 0 0 HCN4 10021 broad.mit.edu 37 15 73624577 73624577 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr15:73624577G>A ENST00000261917.3 - 3 2259 c.1266C>T c.(1264-1266)atC>atT p.I422I NM_005477.2 NP_005468.1 Q9Y3Q4 HCN4_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 4 422 blood circulation|muscle contraction integral to membrane cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 55 COAD - Colon adenocarcinoma(1;0.142) GCATCATGCCGATGAGGTTCA 0.592000 16 74 0 0 1 0 0 SYNE2 23224 broad.mit.edu 37 14 64529564 64529564 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:64529564C>T ENST00000358025.3 + 50 10393 c.10163C>T c.(10162-10164)tCg>tTg p.S3388L SYNE2_ENST00000344113.4_Missense_Mutation_p.S3388L|SYNE2_ENST00000554584.1_Missense_Mutation_p.S3421L|SYNE2_ENST00000555002.1_Missense_Mutation_p.S22L|SYNE2_ENST00000357395.3_5'UTR NM_182914.2 NP_878918.2 Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 3388 centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) TCCATGTCCTCGTTGCCACTG 0.398000 13 33 0 0 1 0 0 LRRC45 201255 broad.mit.edu 37 17 79988621 79988621 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:79988621G>A ENST00000306688.3 + 17 2295 c.1953G>A c.(1951-1953)caG>caA p.Q651Q NM_144999.2 NP_659436.1 Q96CN5 LRC45_HUMAN leucine rich repeat containing 45 651 centrosome lung(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 5 all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191) GCTTCCTGCAGAACGCCGTCC 0.697000 12 15 0 0 1 0 0 SRPR 6734 broad.mit.edu 37 11 126137185 126137185 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:126137185C>G ENST00000332118.6 - 4 565 c.411G>C c.(409-411)aaG>aaC p.K137N SRPR_ENST00000532259.1_Missense_Mutation_p.K109N NM_003139.3 NP_003130.2 P08240 SRPR_HUMAN signal recognition particle receptor (docking protein) 137 SRP-dependent cotranslational protein targeting to membrane integral to membrane|signal recognition particle receptor complex GTP binding|GTPase activity|receptor activity|signal recognition particle binding endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1) 21 all_hematologic(175;0.145) BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736) CTTCAAATTTCTTCATGGTAG 0.418000 47 125 0 0 1 0 0 ERP27 121506 broad.mit.edu 37 12 15068615 15068615 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:15068615G>A ENST00000266397.2 - 6 1155 c.582C>T c.(580-582)ctC>ctT p.L194L ERP27_ENST00000544881.1_5'UTR|ERP27_ENST00000540097.1_Silent_p.L93L NM_152321.2 NP_689534.1 Q96DN0 ERP27_HUMAN endoplasmic reticulum protein 27 194 endoplasmic reticulum lumen breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(3)|prostate(2)|skin(1) 19 CCAGAATAAAGAGAATCTGCA 0.403000 11 41 0 0 1 0 0 LMO7 4008 broad.mit.edu 37 13 76408454 76408454 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr13:76408454G>A ENST00000357063.3 + 18 4573 c.3313G>A c.(3313-3315)Gag>Aag p.E1105K LMO7_ENST00000341547.4_Missense_Mutation_p.E771K|LMO7_ENST00000526202.1_Missense_Mutation_p.E670K|LMO7_ENST00000465261.2_Missense_Mutation_p.E820K|LMO7_ENST00000321797.8_Missense_Mutation_p.E820K|LMO7_ENST00000377534.3_Missense_Mutation_p.E1105K Q8WWI1 LMO7_HUMAN LIM domain 7 1105 PDZ. cytoplasm|nucleus|ubiquitin ligase complex ubiquitin-protein ligase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 Breast(118;0.0992) GBM - Glioblastoma multiforme(99;0.0109) AAAAGAGTGGGAGGAAGCCAT 0.418000 29 71 0 0 1 0 0 ESPNP 284729 broad.mit.edu 37 1 17046578 17046578 + RNA SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:17046578G>A ENST00000492551.1 - 0 74 NR_026567.1 CATGATGCAAGAGCCAGTTCA 0.607000 26 229 0 0 1 0 0 DOCK10 55619 broad.mit.edu 37 2 225666692 225666692 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:225666692C>T ENST00000409592.3 - 40 4429 c.4316G>A c.(4315-4317)cGa>cAa p.R1439Q DOCK10_ENST00000258390.7_Missense_Mutation_p.R1445Q Q96BY6 DOC10_HUMAN dedicator of cytokinesis 10 1445 GTP binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 87 Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14) Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178) ATTTTTGCCTCGAATTATAGG 0.368000 17 62 0 0 1 0 0 TJP2 9414 broad.mit.edu 37 9 71851902 71851902 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:71851902G>C ENST00000377245.4 + 14 2237 c.2029G>C c.(2029-2031)Gac>Cac p.D677H TJP2_ENST00000453658.2_Missense_Mutation_p.D654H|TJP2_ENST00000535702.1_Missense_Mutation_p.D681H|TJP2_ENST00000265384.7_Missense_Mutation_p.D677H|TJP2_ENST00000348208.4_Missense_Mutation_p.D677H|TJP2_ENST00000539225.1_Missense_Mutation_p.D708H NM_004817.3 NP_004808.2 Q9UDY2 ZO2_HUMAN tight junction protein 2 677 cellular component disassembly involved in apoptosis adherens junction|cytoplasm|nucleus|tight junction guanylate kinase activity|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1) 35 TGCCCAGAGAGACAACGCTGG 0.498000 44 175 0 0 1 0 0 GK2 2712 broad.mit.edu 37 4 80328225 80328225 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr4:80328225C>G ENST00000358842.3 - 1 1147 c.1130G>C c.(1129-1131)aGa>aCa p.R377T NM_033214.2 NP_149991.2 Q14410 GLPK2_HUMAN glycerol kinase 2 377 glycerol-3-phosphate metabolic process mitochondrial outer membrane ATP binding|glycerol kinase activity autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 39 GAGTATCCCTCTTGCACTGGG 0.428000 27 107 0 0 1 0 0 DLGAP3 58512 broad.mit.edu 37 1 35370141 35370141 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:35370141C>T ENST00000373347.1 - 3 1112 c.844G>A c.(844-846)Gag>Aag p.E282K DLGAP3_ENST00000235180.4_Missense_Mutation_p.E282K O95886 DLGP3_HUMAN discs, large (Drosophila) homolog-associated protein 3 282 cell-cell signaling cell junction|postsynaptic density|postsynaptic membrane central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1) 46 Myeloproliferative disorder(586;0.0393) CCACCAGGCTCCCCAGGGGGC 0.677000 33 146 0 0 1 0 0 TRIP12 9320 broad.mit.edu 37 2 230723619 230723619 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:230723619G>A ENST00000283943.5 - 3 948 c.770C>T c.(769-771)tCt>tTt p.S257F TRIP12_ENST00000389045.3_Intron|TRIP12_ENST00000543084.1_Missense_Mutation_p.S299F|TRIP12_ENST00000389044.4_Missense_Mutation_p.S299F|TRIP12_ENST00000409677.1_Missense_Mutation_p.S299F NM_001284214.1|NM_004238.1 NP_001271143.1|NP_004229.1 Q14669 TRIPC_HUMAN thyroid hormone receptor interactor 12 257 protein ubiquitination involved in ubiquitin-dependent protein catabolic process proteasome complex thyroid hormone receptor binding|ubiquitin-protein ligase activity breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) AAATTTTGAAGAGCCACCAGT 0.473000 21 67 0 0 1 0 0 DNAH11 8701 broad.mit.edu 37 7 21640356 21640356 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:21640356G>A ENST00000328843.6 + 16 3094 c.3063G>A c.(3061-3063)gtG>gtA p.V1021V DNAH11_ENST00000409508.3_Silent_p.V1021V Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 1021 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 ACAGAGTGGTGAATGTCATCA 0.428000 Kartagener syndrome 47 145 0 0 1 0 0 DSG1 1828 broad.mit.edu 37 18 28923426 28923426 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr18:28923426G>C ENST00000257192.4 + 12 1913 c.1701G>C c.(1699-1701)ttG>ttC p.L567F RP11-534N16.1_ENST00000578119.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA NM_001942.2 NP_001933.2 Q02413 DSG1_HUMAN desmoglein 1 567 calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 76 OV - Ovarian serous cystadenocarcinoma(10;0.00559) TCCCATTTTTGATGATCTGTT 0.423000 32 122 0 0 1 0 0 STAT1 6772 broad.mit.edu 37 2 191854376 191854376 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:191854376C>T ENST00000361099.3 - 12 1449 c.1062G>A c.(1060-1062)ctG>ctA p.L354L STAT1_ENST00000392323.2_Silent_p.L356L|STAT1_ENST00000392322.3_Silent_p.L354L|STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000409465.1_Silent_p.L354L NM_007315.3 NP_009330.1 P42224 STAT1_HUMAN signal transducer and activator of transcription 1, 91kDa 354 activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein cytosol|nucleolus|nucleoplasm calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141) Fludarabine(DB01073) AATTATAATTCAGCTCTTGCA 0.249000 4 5 0 0 1 0 0 OR56A3 390083 broad.mit.edu 37 11 5968681 5968681 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:5968681C>T ENST00000329564.6 + 1 112 c.105C>T c.(103-105)ctC>ctT p.L35L NM_001003443.2 NP_001003443.2 Q8NH54 O56A3_HUMAN olfactory receptor, family 56, subfamily A, member 3 35 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1) 41 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114) Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CCCTGCCCCTCAGCCTCCTTT 0.582000 41 96 0 0 1 0 0 IL1B 3553 broad.mit.edu 37 2 113590374 113590374 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:113590374C>T ENST00000263341.2 - 5 541 c.331G>A c.(331-333)Gag>Aag p.E111K IL1B_ENST00000491056.1_5'UTR NM_000576.2 NP_000567.1 P01584 IL1B_HUMAN interleukin 1, beta 111 activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|negative regulation of MAP kinase activity|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation of T cell proliferation|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation cytosol|extracellular space cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding p.E111K(1) breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8) 12 Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366) ACATAAGCCTCGTTATCCCAT 0.488000 29 101 0 0 1 0 0 DDX54 79039 broad.mit.edu 37 12 113599704 113599704 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:113599704C>T ENST00000314045.7 - 18 2321 c.2294G>A c.(2293-2295)cGa>cAa p.R765Q DDX54_ENST00000306014.5_Missense_Mutation_p.R765Q NM_001111322.1 NP_001104792.1 Q8TDD1 DDX54_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 54 765 estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent nucleolus ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 31 ATACAGGTCTCGCTTGTAGGA 0.607000 41 183 0 0 1 0 0 MAP3K13 9175 broad.mit.edu 37 3 185146691 185146691 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:185146691G>C ENST00000265026.3 + 2 656 c.322G>C c.(322-324)Gag>Cag p.E108Q MAP3K13_ENST00000424227.1_Missense_Mutation_p.E108Q|MAP3K13_ENST00000446828.1_Intron|MAP3K13_ENST00000535426.1_Intron|MAP3K13_ENST00000443863.1_Intron NM_004721.4 NP_004712.1 O43283 M3K13_HUMAN mitogen-activated protein kinase kinase kinase 13 108 activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation cytoplasm|membrane|membrane fraction ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 54 all_cancers(143;7.21e-11)|Ovarian(172;0.0339) OV - Ovarian serous cystadenocarcinoma(80;1.93e-20) GGTGGACGGAGAGAGCACAAG 0.517000 25 45 0 0 1 0 0 DDB2 1643 broad.mit.edu 37 11 47259519 47259519 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:47259519G>A ENST00000256996.4 + 8 1350 c.1155G>A c.(1153-1155)caG>caA p.Q385Q DDB2_ENST00000378600.3_Silent_p.Q196Q|DDB2_ENST00000378603.3_Silent_p.Q321Q|DDB2_ENST00000378601.3_3'UTR NM_000107.2 NP_000098.1 Q92466 DDB2_HUMAN damage-specific DNA binding protein 2, 48kDa 385 nucleotide-excision repair, DNA damage removal|protein autoubiquitination|protein polyubiquitination|response to UV nucleoplasm|protein complex damaged DNA binding|protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(1) 17 TGATGTGTCAGCTCTATGACC 0.463000 """Mis, N""" """skin basal cell, skin squamous cell, melanoma""" Direct reversal of damage;Nucleotide excision repair (NER) Xeroderma Pigmentosum 18 70 0 0 1 0 0 ARNTL2 56938 broad.mit.edu 37 12 27543128 27543128 + Missense_Mutation SNP C C A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:27543128C>A ENST00000544915.1 + 8 992 c.773C>A c.(772-774)tCt>tAt p.S258Y ARNTL2_ENST00000546179.1_Missense_Mutation_p.S255Y|ARNTL2_ENST00000311001.5_Missense_Mutation_p.S278Y|ARNTL2_ENST00000261178.5_Missense_Mutation_p.S244Y|ARNTL2_ENST00000395901.2_Missense_Mutation_p.S255Y|ARNTL2_ENST00000542388.1_Missense_Mutation_p.S207Y|ARNTL2_ENST00000266503.5_Missense_Mutation_p.S292Y|RP11-165P7.1_ENST00000500498.2_RNA NM_020183.4 NP_064568.3 Q8WYA1 BMAL2_HUMAN aryl hydrocarbon receptor nuclear translocator-like 2 292 circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1) 21 Colorectal(261;0.0847)|Lung SC(9;0.184) TGTAAAATCTCTGTCAAAGAA 0.393000 19 64 3.99206e-14 4.21301e-14 1 1 0 PDAP1 11333 broad.mit.edu 37 7 99002548 99002548 + Silent SNP C C T rs139029496 TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:99002548C>T ENST00000350498.3 - 2 322 c.42G>A c.(40-42)gcG>gcA p.A14A NM_014891.6 NP_055706.1 Q13442 HAP28_HUMAN PDGFA associated protein 1 14 cell proliferation|signal transduction breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)|prostate(1)|skin(1) 9 all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) STAD - Stomach adenocarcinoma(171;0.215) Becaplermin(DB00102) TATACTGCCTCGCCCGGCCTT 0.632000 15 62 0 0 1 0 0 SERPINB5 5268 broad.mit.edu 37 18 61170752 61170752 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr18:61170752G>C ENST00000382771.4 + 7 1217 c.925G>C c.(925-927)Gag>Cag p.E309Q NM_002639.4 NP_002630.2 P36952 SPB5_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 5 309 cellular component movement|regulation of proteolysis cytoplasm|extracellular space protein binding|serine-type endopeptidase inhibitor activity kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1) 12 TGGAATGTCAGAGACCAAGGG 0.438000 29 53 0 0 1 0 0 GPR98 84059 broad.mit.edu 37 5 89923556 89923556 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:89923556G>C ENST00000405460.2 + 7 1297 c.1201G>C c.(1201-1203)Gaa>Caa p.E401Q NM_032119.3 NP_115495.3 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 401 cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6) 269 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TGTTTTGTTTGAAAGGACAGT 0.299000 8 39 0 0 1 0 0 CNTNAP4 85445 broad.mit.edu 37 16 76587302 76587302 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr16:76587302G>A ENST00000307431.8 + 23 3947 c.3562G>A c.(3562-3564)Gac>Aac p.D1188N CNTNAP4_ENST00000478060.1_Missense_Mutation_p.D1116N|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.D1140N|CNTNAP4_ENST00000476707.1_Missense_Mutation_p.D1192N|CNTNAP4_ENST00000469589.1_3'UTR NM_033401.3 NP_207837.2 Q9C0A0 CNTP4_HUMAN contactin associated protein-like 4 1189 Laminin G-like 4. cell adhesion|signal transduction integral to membrane receptor binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 64 CAGCCACCCAGACCCTGTCAC 0.607000 7 23 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179399910 179399910 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:179399910G>A ENST00000589042.1 - 358 101656 c.101432C>T c.(101431-101433)tCa>tTa p.S33811L TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S31243L|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S32170L|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S24746L|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S24938L|TTN-AS1_ENST00000588257.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S24871L|TTN-AS1_ENST00000586831.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 32170 Ig-like 149. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTCCTTGGTTGAAGAGTGAGA 0.408000 18 59 0 0 1 0 0 OGFR 11054 broad.mit.edu 37 20 61439537 61439537 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr20:61439537G>A ENST00000370461.1 + 1 2300 c.23G>A c.(22-24)gGa>gAa p.G8E OGFR_ENST00000290291.6_Intron Q9NZT2 OGFR_HUMAN opioid growth factor receptor 0 regulation of cell growth cytoplasm|membrane|nucleus opioid receptor activity endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3) 17 Breast(26;3.65e-08) GAAAGACACGGAGGGCCCCAG 0.617000 OREG0026118 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 31 0 0 1 0 0 DNMT1 1786 broad.mit.edu 37 19 10246920 10246920 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:10246920G>A ENST00000340748.4 - 37 4720 c.4485C>T c.(4483-4485)ctC>ctT p.L1495L DNMT1_ENST00000359526.4_Silent_p.L1511L|DNMT1_ENST00000540357.1_Silent_p.L1498L P26358 DNMT1_HUMAN DNA (cytosine-5-)-methyltransferase 1 1495 Catalytic.|Interaction with the PRC2/EED-EZH2 complex (By similarity). chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06) Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035) ACCAGGGGATGAGGGTGTTGA 0.627000 9 34 0 0 1 0 0 ANAPC2 29882 broad.mit.edu 37 9 140075251 140075251 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:140075251G>A ENST00000323927.2 - 8 1603 c.1599C>T c.(1597-1599)ttC>ttT p.F533F NM_013366.3 NP_037498.1 Q9UJX6 ANC2_HUMAN anaphase promoting complex subunit 2 533 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity anaphase-promoting complex|cytosol|nucleoplasm ubiquitin protein ligase binding|ubiquitin-protein ligase activity breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1) 15 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858) GCTCGGGGCTGAAGCTGAACT 0.662000 25 67 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105410848 105410848 + Nonsense_Mutation SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:105410848G>T ENST00000333244.5 - 7 11059 c.10940C>A c.(10939-10941)tCa>tAa p.S3647* AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 3647 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) TACCCTGAATGACGGCATCTT 0.587000 85 307 1.07134e-49 1.14776e-49 1 1 0 SPTA1 6708 broad.mit.edu 37 1 158582706 158582706 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:158582706G>C ENST00000368147.4 - 51 7215 c.7035C>G c.(7033-7035)gaC>gaG p.D2345E NM_003126.2 NP_003117.2 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 (elliptocytosis 2) EF-hand 2. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6) 307 all_hematologic(112;0.0378) CTGACTCCTTGTCAATCAGGA 0.478000 10 44 0 0 1 0 0 SPTBN1 6711 broad.mit.edu 37 2 54856469 54856469 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:54856469C>T ENST00000333896.5 + 13 2544 c.2159C>T c.(2158-2160)tCg>tTg p.S720L SPTBN1_ENST00000356805.4_Missense_Mutation_p.S733L NM_178313.2 NP_842565.2 Q01082 SPTB2_HUMAN spectrin, beta, non-erythrocytic 1 733 actin filament capping|axon guidance cytosol|nucleolus|plasma membrane|sarcomere|spectrin actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 82 Lung(47;0.24) GAGCAGCTCTCGGCCATTCGG 0.572000 31 96 0 0 1 0 0 DMXL2 23312 broad.mit.edu 37 15 51783938 51783938 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr15:51783938G>C ENST00000251076.5 - 20 5077 c.4790C>G c.(4789-4791)tCt>tGt p.S1597C DMXL2_ENST00000543779.2_Missense_Mutation_p.S1597C|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Missense_Mutation_p.S961C NM_001174116.1|NM_015263.3 NP_001167587.1|NP_056078.2 Q8TDJ6 DMXL2_HUMAN Dmx-like 2 1597 cell junction|synaptic vesicle membrane Rab GTPase binding breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 101 all cancers(107;0.00494) ATGGCATGTAGAGACACCTAA 0.363000 30 77 0 0 1 0 0 SLC16A3 9123 broad.mit.edu 37 17 80196577 80196577 + Splice_Site SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:80196577G>A ENST00000581287.1 + 4 3445 c.e4-1 SLC16A3_ENST00000392339.1_Splice_Site|SLC16A3_ENST00000392341.1_Splice_Site|SLC16A3_ENST00000582743.1_Splice_Site NM_001206951.1|NM_001206952.1 NP_001193880.1|NP_001193881.1 O15427 MOT4_HUMAN solute carrier family 16 (monocarboxylate transporter), member 3 blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process actin cytoskeleton|integral to plasma membrane|membrane fraction|nuclear membrane secondary active monocarboxylate transmembrane transporter activity|symporter activity endometrium(2)|kidney(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 9 Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227) OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149) Pyruvic acid(DB00119) TCTTCCCGCAGGCAAACTCCT 0.642000 10 19 0 0 1 0 0 ADCY4 196883 broad.mit.edu 37 14 24800506 24800506 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:24800506C>G ENST00000310677.4 - 6 839 c.726G>C c.(724-726)gaG>gaC p.E242D ADCY4_ENST00000418030.2_Missense_Mutation_p.E242D|ADCY4_ENST00000396747.3_5'UTR|ADCY4_ENST00000554068.2_Missense_Mutation_p.E242D NM_001198568.1|NM_001198592.1|NM_139247.3 NP_001185497.1|NP_001185521.1|NP_640340.2 Q8NFM4 ADCY4_HUMAN adenylate cyclase 4 242 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding|protein binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(265;0.0192) GTGCCATGATCTCTGCCTTCA 0.552000 30 92 0 0 1 0 0 SH3BP5L 80851 broad.mit.edu 37 1 249106497 249106497 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:249106497G>A ENST00000366472.5 - 7 2013 c.784C>T c.(784-786)Cgt>Tgt p.R262C SH3BP5L_ENST00000475978.1_5'UTR|SH3BP5L_ENST00000411742.2_Missense_Mutation_p.R230C NM_030645.1 NP_085148.1 Q7L8J4 3BP5L_HUMAN SH3-binding domain protein 5-like 262 endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 23 all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199) all_cancers(173;0.19) OV - Ovarian serous cystadenocarcinoma(106;0.00805) TCCAGGTTACGAAGGGCCACG 0.682000 15 55 0 0 1 0 0 MAP2K4 6416 broad.mit.edu 37 17 12032537 12032537 + Missense_Mutation SNP C C A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:12032537C>A ENST00000415385.3 + 10 1059 c.1006C>A c.(1006-1008)Cct>Act p.P336T MAP2K4_ENST00000353533.5_Missense_Mutation_p.P325T NM_001281435.1 NP_001268364.1 P45985 MP2K4_HUMAN mitogen-activated protein kinase kinase 4 325 Protein kinase. cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.0?(10)|p.?(1) NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163) Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681) GAAAGGAGATCCTCCGCAGCT 0.433000 """D, Mis, N""" """pancreatic, breast, colorectal""" 14 34 4.7546e-09 4.95612e-09 1 1 0 C19orf18 147685 broad.mit.edu 37 19 58477903 58477903 + Missense_Mutation SNP C C A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:58477903C>A ENST00000314391.3 - 4 467 c.366G>T c.(364-366)atG>atT p.M122I NM_152474.4 NP_689687.1 Q8NEA5 CS018_HUMAN chromosome 19 open reading frame 18 122 integral to membrane large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(1) 8 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017) CTTACTATATCATATAGGAGA 0.348000 7 22 0.0293803 0.029537 1 1 0 INTS9 55756 broad.mit.edu 37 8 28671062 28671062 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:28671062C>G ENST00000416984.2 - 6 852 c.493G>C c.(493-495)Gag>Cag p.E165Q INTS9_ENST00000521022.1_Missense_Mutation_p.E186Q|INTS9_ENST00000521777.1_Missense_Mutation_p.E162Q|INTS9_ENST00000397363.4_Missense_Mutation_p.E80Q NM_001145159.2 NP_001138631.1 Q9NV88 INT9_HUMAN integrator complex subunit 9 186 snRNA processing integrator complex protein binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2) 19 Ovarian(32;0.0439) KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152) GAGTTCACCTCTTGCATTGTA 0.413000 34 101 0 0 1 0 0 DOCK4 9732 broad.mit.edu 37 7 111541796 111541796 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:111541796C>T ENST00000428084.1 - 14 1526 c.1254G>A c.(1252-1254)aaG>aaA p.K418K DOCK4_ENST00000437633.1_Silent_p.K418K|DOCK4_ENST00000476846.1_5'UTR Q8N1I0 DOCK4_HUMAN dedicator of cytokinesis 4 418 DHR-1. cell chemotaxis cytosol|endomembrane system|membrane|stereocilium GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4) 72 Acute lymphoblastic leukemia(1;0.0441) TGGCCACGCTCTTCCCTCCTT 0.358000 7 24 0 0 1 0 0 TESK2 10420 broad.mit.edu 37 1 45811226 45811226 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:45811226G>A ENST00000372086.3 - 11 1402 c.1002C>T c.(1000-1002)ctC>ctT p.L334L TESK2_ENST00000341771.6_Silent_p.L305L|TESK2_ENST00000538496.1_Silent_p.L251L|TESK2_ENST00000372084.1_Silent_p.L305L|TESK2_ENST00000486676.1_5'UTR NM_007170.2 NP_009101.2 Q96S53 TESK2_HUMAN testis-specific kinase 2 334 actin cytoskeleton organization|focal adhesion assembly|spermatogenesis nucleus ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 32 Acute lymphoblastic leukemia(166;0.155) CTTTCTCCAAGAGTCCTGAAG 0.463000 12 50 0 0 1 0 0 IRF2BPL 64207 broad.mit.edu 37 14 77493965 77493965 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:77493965C>T ENST00000238647.3 - 1 1069 c.171G>A c.(169-171)ctG>ctA p.L57L NM_024496.3 NP_078772.1 Q9H1B7 I2BPL_HUMAN interferon regulatory factor 2 binding protein-like 57 nucleus endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2) 11 GCGCCCGCTTCAGCTGGCGCG 0.692000 9 18 0 0 1 0 0 MED1 5469 broad.mit.edu 37 17 37564794 37564794 + Missense_Mutation SNP G G A rs144178898 TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:37564794G>A ENST00000300651.6 - 17 3903 c.3680C>T c.(3679-3681)tCa>tTa p.S1227L MED1_ENST00000394287.3_Intron NM_004774.3 NP_004765.2 Q15648 MED1_HUMAN mediator complex subunit 1 1227 Ser-rich. androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter mediator complex DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1) 59 Ovarian(249;1.78e-06)|Lung SC(565;0.0262) Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146) UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649) ACCAGAACCTGAACTGATAGG 0.507000 HNSCC(31;0.082) 20 68 0 0 1 0 0 WDR6 11180 broad.mit.edu 37 3 49050213 49050213 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:49050213C>T ENST00000395474.3 + 2 1616 c.1336C>T c.(1336-1338)Cgt>Tgt p.R446C WDR6_ENST00000489684.1_3'UTR|WDR6_ENST00000415265.2_Intron|WDR6_ENST00000448293.1_Missense_Mutation_p.R365C|WDR6_ENST00000608424.1_Missense_Mutation_p.R416C NM_018031.3 NP_060501.3 Q9NNW5 WDR6_HUMAN WD repeat domain 6 416 cell cycle arrest|negative regulation of cell proliferation cytoplasm breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155) TGGGGAAGGTCGTGTCAAGGT 0.572000 10 49 0 0 1 0 0 CYP4Z2P 163720 broad.mit.edu 37 1 47366083 47366083 + RNA SNP T T G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:47366083T>G ENST00000505841.1 - 0 26 NR_002788.2 GAGCCATGAGTTCCTGAAGCC 0.532000 6 25 0 0 1 0 0 SACS 26278 broad.mit.edu 37 13 23913064 23913064 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr13:23913064G>C ENST00000382298.3 - 10 5539 c.4951C>G c.(4951-4953)Caa>Gaa p.Q1651E SACS_ENST00000382292.3_Missense_Mutation_p.Q1651E|SACS_ENST00000402364.1_Missense_Mutation_p.Q901E NM_014363.4 NP_055178.3 Q9NZJ4 SACS_HUMAN spastic ataxia of Charlevoix-Saguenay (sacsin) 1651 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11) 189 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) GCTTCCTGTTGAGTTCTAAAG 0.388000 13 50 0 0 1 0 0 PRDX2 7001 broad.mit.edu 37 19 12911682 12911682 + Nonsense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:12911682G>C ENST00000435703.1 - 3 454 c.305C>G c.(304-306)tCa>tGa p.S102* PRDX2_ENST00000301522.2_Intron|PRDX2_ENST00000334482.5_Intron|CTD-2659N19.10_ENST00000585496.1_RNA P32119 PRDX2_HUMAN peroxiredoxin 2 0 Thioredoxin. anti-apoptosis|cell redox homeostasis|hydrogen peroxide catabolic process|removal of superoxide radicals thioredoxin peroxidase activity endometrium(1)|large_intestine(1)|lung(1)|prostate(1) 4 gctaggacctgagggtgtgag 0.557000 3 10 0 0 1 0 0 ZNF385D 79750 broad.mit.edu 37 3 21462822 21462822 + Nonsense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:21462822G>A ENST00000281523.2 - 8 1590 c.1072C>T c.(1072-1074)Cga>Tga p.R358* NM_024697.2 NP_078973.1 Q9H6B1 Z385D_HUMAN zinc finger protein 385D 358 nucleus nucleic acid binding|zinc ion binding p.R358*(1) NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4) 46 GGAGCAGTTCGAAGACTGAAG 0.582000 16 30 0 0 1 0 0 ZNF12 7559 broad.mit.edu 37 7 6731839 6731839 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:6731839C>G ENST00000405858.1 - 5 1275 c.734G>C c.(733-735)gGa>gCa p.G245A AC073343.13_ENST00000366167.2_RNA|ZNF12_ENST00000404360.1_Missense_Mutation_p.G171A|ZNF12_ENST00000342651.5_Missense_Mutation_p.G207A NM_006956.2|NM_016265.3 NP_008887.2|NP_057349.2 P17014 ZNF12_HUMAN zinc finger protein 12 245 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3) 16 Ovarian(82;0.0776) UCEC - Uterine corpus endometrioid carcinoma (126;0.0231) TATTTCAGATCCATTCCACTT 0.393000 11 32 0 0 1 0 0 VWA8 23078 broad.mit.edu 37 13 42335283 42335283 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr13:42335283C>G ENST00000379310.3 - 21 2475 c.2407G>C c.(2407-2409)Gaa>Caa p.E803Q VWA8_ENST00000281496.6_Missense_Mutation_p.E803Q NM_015058.1 NP_055873.1 von Willebrand factor A domain containing 8 TGAATATATTCTCGGGGTCTG 0.348000 17 84 0 0 1 0 0 MAT2A 4144 broad.mit.edu 37 2 85770125 85770125 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:85770125G>C ENST00000306434.3 + 8 1176 c.1053G>C c.(1051-1053)aaG>aaC p.K351N MAT2A_ENST00000409017.1_Missense_Mutation_p.K288N NM_005911.5 NP_005902.1 P31153 METK2_HUMAN methionine adenosyltransferase II, alpha 351 methylation|xenobiotic metabolic process cytosol ATP binding|metal ion binding|methionine adenosyltransferase activity breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 9 L-Methionine(DB00134)|S-Adenosylmethionine(DB00118) TTGTGAAGAAGAATTTCGATC 0.413000 16 60 0 0 1 0 0 SLC6A1 6529 broad.mit.edu 37 3 11058933 11058933 + Missense_Mutation SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:11058933G>T ENST00000287766.4 + 3 457 c.36G>T c.(34-36)caG>caT p.Q12H SLC6A1-AS1_ENST00000414969.2_RNA|SLC6A1_ENST00000462473.1_3'UTR|SLC6A1_ENST00000536032.1_5'UTR NM_003042.3 NP_003033.3 P30531 SC6A1_HUMAN solute carrier family 6 (neurotransmitter transporter), member 1 12 neurotransmitter secretion integral to plasma membrane gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1) 26 Ovarian(110;0.0392) OV - Ovarian serous cystadenocarcinoma(96;0.00099) Cocaine(DB00907)|Tiagabine(DB00906) CCGACGGGCAGATCTCCACCG 0.642000 23 68 5.35356e-11 5.60456e-11 1 1 0 IFT172 26160 broad.mit.edu 37 2 27700949 27700949 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:27700949C>T ENST00000260570.3 - 11 1183 c.1080G>A c.(1078-1080)gtG>gtA p.V360V IFT172_ENST00000359466.6_Silent_p.V360V|IFT172_ENST00000416524.2_Silent_p.V339V NM_015662.1 NP_056477.1 Q9UG01 IF172_HUMAN intraflagellar transport 172 homolog (Chlamydomonas) 360 cilium assembly cilium binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 43 Acute lymphoblastic leukemia(172;0.155) CTAGGATTTTCACCTCTTCCA 0.493000 55 147 0 0 1 0 0 TP53TG5 27296 broad.mit.edu 37 20 44003758 44003758 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr20:44003758G>A ENST00000372726.3 - 4 845 c.689C>T c.(688-690)tCc>tTc p.S230F TP53TG5_ENST00000537995.1_Missense_Mutation_p.S214F|SYS1-DBNDD2_ENST00000475242.1_Intron|SYS1_ENST00000426004.1_3'UTR|SYS1-DBNDD2_ENST00000452133.1_Intron NM_014477.2 NP_055292.1 Q9Y2B4 T53G5_HUMAN TP53 target 5 230 intracellular signal transduction|negative regulation of cell growth cytoplasm|nucleus central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|upper_aerodigestive_tract(1) 12 ACGCAGGGTGGAGGATCTGCA 0.597000 28 79 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 4851876 4851876 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:4851876C>T ENST00000602557.1 - 1 618 c.63G>A c.(61-63)gcG>gcA p.A21A CSMD1_ENST00000537824.1_Silent_p.A21A|CSMD1_ENST00000400186.3_Silent_p.A21A|CSMD1_ENST00000539096.1_Silent_p.A21A|CSMD1_ENST00000602723.1_Silent_p.A21A|CSMD1_ENST00000520002.1_Silent_p.A21A|CSMD1_ENST00000542608.1_Silent_p.A21A Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 21 integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) TGAGGAGCCTCGCGCACAGCA 0.647000 7 46 0 0 1 0 0 KIF19 124602 broad.mit.edu 37 17 72339221 72339221 + Missense_Mutation SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:72339221G>T ENST00000389916.4 + 5 516 c.378G>T c.(376-378)caG>caT p.Q126H NM_153209.3 NP_694941.2 Q2TAC6 KIF19_HUMAN kinesin family member 19 126 Kinesin-motor. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 41 TCTATGTTCAGACCCTCAACG 0.602000 11 23 3.07112e-06 3.15668e-06 1 1 0 TXNRD1 7296 broad.mit.edu 37 12 104719163 104719163 + Nonsense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:104719163C>T ENST00000526691.1 + 9 1426 c.970C>T c.(970-972)Cag>Tag p.Q324* TXNRD1_ENST00000542918.1_Nonsense_Mutation_p.Q322*|TXNRD1_ENST00000540716.1_Nonsense_Mutation_p.Q234*|TXNRD1_ENST00000427956.1_Nonsense_Mutation_p.Q387*|TXNRD1_ENST00000526390.1_Nonsense_Mutation_p.Q316*|TXNRD1_ENST00000378070.4_Nonsense_Mutation_p.Q371*|TXNRD1_ENST00000429002.2_Nonsense_Mutation_p.Q422*|TXNRD1_ENST00000388854.3_Nonsense_Mutation_p.Q324*|TXNRD1_ENST00000397736.2_Nonsense_Mutation_p.Q316*|TXNRD1_ENST00000525566.1_Nonsense_Mutation_p.Q422*|TXNRD1_ENST00000526950.1_Nonsense_Mutation_p.Q341*|TXNRD1_ENST00000529546.1_Nonsense_Mutation_p.Q234*|TXNRD1_ENST00000524698.1_Nonsense_Mutation_p.Q272*|TXNRD1_ENST00000354940.6_Nonsense_Mutation_p.Q272*|TXNRD1_ENST00000503506.2_Nonsense_Mutation_p.Q272* NM_001261445.1|NM_003330.3 NP_001248374.1|NP_003321.3 Q16881 TRXR1_HUMAN thioredoxin reductase 1 422 cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport cytosol|nucleolus electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1) 16 AGTAGTAGCTCAGTCCACCAA 0.383000 4 16 0 0 1 0 0 ABCG5 64240 broad.mit.edu 37 2 44050022 44050022 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:44050022C>G ENST00000543989.1 - 6 1897 c.192G>C c.(190-192)caG>caC p.Q64H ABCG5_ENST00000260645.1_Missense_Mutation_p.Q459H|ABCG5_ENST00000405322.1_Missense_Mutation_p.Q288H Q9H222 ABCG5_HUMAN ATP-binding cassette, sub-family G (WHITE), member 5 459 ABC transporter. cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 33 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) TCTGCCACTTCTGGTAGAGGC 0.572000 17 35 0 0 1 0 0 CLDN6 9074 broad.mit.edu 37 16 3065463 3065463 + Nonsense_Mutation SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr16:3065463G>T ENST00000396925.1 - 3 988 c.560C>A c.(559-561)tCg>tAg p.S187* CLDN6_ENST00000328796.4_Nonsense_Mutation_p.S187*|CLDN6_ENST00000572154.1_Intron P56747 CLD6_HUMAN claudin 6 187 calcium-independent cell-cell adhesion integral to membrane|tight junction identical protein binding|structural molecule activity kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 10 GGACCCCCCCGAGGGGCAAGT 0.652000 16 53 1.37285e-15 1.45155e-15 1 1 0 KMT2C 58508 broad.mit.edu 37 7 151904469 151904469 + Nonsense_Mutation SNP C C A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:151904469C>A ENST00000355193.2 - 24 3975 c.3757G>T c.(3757-3759)Gag>Tag p.E1253* KMT2C_ENST00000262189.6_Nonsense_Mutation_p.E1253* lysine (K)-specific methyltransferase 2C GCTTCCCGCTCAGGACTAGAT 0.388000 10 45 6.40141e-05 6.5088e-05 1 1 0 BTG2 7832 broad.mit.edu 37 1 203274737 203274737 + Translation_Start_Site SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:203274737G>A ENST00000290551.4 + 1 74 c.3G>A c.(1-3)atG>atA p.M1I NM_006763.2 NP_006754.1 P78543 BTG2_HUMAN BTG family, member 2 1 DNA repair|neuron projection development|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding p.M1I(1) haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1) 9 BRCA - Breast invasive adenocarcinoma(75;0.203) CGCGCGACATGAGCCACGGGA 0.697000 3 10 0 0 1 0 0 EEF1A2 1917 broad.mit.edu 37 20 62127331 62127331 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr20:62127331C>G ENST00000217182.3 - 3 367 c.202G>C c.(202-204)Gag>Cag p.E68Q EEF1A2_ENST00000298049.7_Missense_Mutation_p.E68Q NM_001958.3 NP_001949.1 Q05639 EF1A2_HUMAN eukaryotic translation elongation factor 1 alpha 2 68 nucleus GTP binding|GTPase activity|protein binding|translation elongation factor activity breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1) 20 all_cancers(38;9.45e-12) BRCA - Breast invasive adenocarcinoma(10;1.22e-05) ATGCCGCGCTCACGCTCCGCC 0.612000 OREG0026129 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 36 118 0 0 1 0 0 GRIN2B 2904 broad.mit.edu 37 12 13769390 13769390 + Splice_Site SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:13769390C>T ENST00000609686.1 - 5 1536 c.1327G>A c.(1327-1329)Gag>Aag p.E443K NM_000834.3 NP_000825.2 Q13224 NMDE2_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2B response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding p.E443K(1) NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1) 143 Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) ATGCCATACTCAGTGACTATG 0.527000 16 50 0 0 1 0 0 SRSF9 8683 broad.mit.edu 37 12 120907289 120907289 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:120907289C>T ENST00000229390.3 - 1 307 c.124G>A c.(124-126)Gag>Aag p.E42K NM_003769.2 NP_003760.1 Q13242 SRSF9_HUMAN serine/arginine-rich splicing factor 9 42 RRM 1. mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription nucleoplasm nucleotide binding|RNA binding cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1) 9 AGCTCGATCTCGCGGATGCGG 0.692000 18 57 0 0 1 0 0 SIDT1 54847 broad.mit.edu 37 3 113300209 113300209 + Splice_Site SNP G G A rs35187239 TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:113300209G>A ENST00000264852.4 + 6 1391 c.665G>A c.(664-666)tGc>tAc p.C222Y SIDT1_ENST00000393830.3_Splice_Site_p.C222Y NM_017699.2 NP_060169.2 Q9NXL6 SIDT1_HUMAN SID1 transmembrane family, member 1 222 integral to membrane breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 50 ATGCTGCAGTGCCCGGTGTAT 0.463000 15 39 0 0 1 0 0 GLUD1 2746 broad.mit.edu 37 10 88822464 88822464 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:88822464C>T ENST00000277865.4 - 6 966 c.870G>A c.(868-870)atG>atA p.M290I GLUD1_ENST00000537649.1_Missense_Mutation_p.M123I|GLUD1_ENST00000544149.1_Missense_Mutation_p.M157I NM_005271.3 NP_005262.1 P00367 DHE3_HUMAN glutamate dehydrogenase 1 290 glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion mitochondrial matrix ADP binding|ATP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|identical protein binding|leucine binding|NAD+ binding endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1) 22 L-Glutamic Acid(DB00142)|NADH(DB00157) CTAAAATGCTCATGTAAGAAG 0.388000 13 27 0 0 1 0 0 MAML2 84441 broad.mit.edu 37 11 95826490 95826490 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:95826490C>G ENST00000524717.1 - 2 1989 c.705G>C c.(703-705)atG>atC p.M235I NM_032427.1 NP_115803.1 Q8IZL2 MAML2_HUMAN mastermind-like 2 (Drosophila) 235 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity CRTC3/MAML2(26)|CRTC1/MAML2(516) breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 43 Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837) GTGCTTGGCTCATAGGCAAGG 0.468000 T """MECT1, CRTC3""" salivary gland mucoepidermoid 15 56 0 0 1 0 0 CHN1 1123 broad.mit.edu 37 2 175673765 175673765 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:175673765C>T ENST00000409900.3 - 11 1283 c.970G>A c.(970-972)Gag>Aag p.E324K CHN1_ENST00000488080.1_5'UTR|CHN1_ENST00000409156.3_Missense_Mutation_p.E298K|CHN1_ENST00000409597.1_Missense_Mutation_p.E140K|CHN1_ENST00000295497.7_Missense_Mutation_p.E199K NM_001822.5 NP_001813.1 P15882 CHIN_HUMAN chimerin 1 324 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(117;0.226) TCTGCCTTCTCACCATCTTTT 0.318000 T TAF15 extraskeletal myxoid chondrosarcoma 9 32 0 0 1 0 0 MATR3 9782 broad.mit.edu 37 5 138643397 138643397 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:138643397C>T ENST00000394800.2 + 6 842 c.293C>T c.(292-294)tCt>tTt p.S98F MATR3_ENST00000503811.1_Intron|MATR3_ENST00000361059.2_Missense_Mutation_p.S98F|MATR3_ENST00000502499.1_Intron|MATR3_ENST00000510056.1_Missense_Mutation_p.S98F|MATR3_ENST00000502929.1_Missense_Mutation_p.S98F|MATR3_ENST00000394805.3_Missense_Mutation_p.S98F|MATR3_ENST00000504203.1_Intron|MATR3_ENST00000509990.1_Missense_Mutation_p.S98F P43243 MATR3_HUMAN matrin 3 98 nuclear inner membrane|nuclear matrix nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 29 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325) CTCCCTTTATCTTCTCAACAC 0.443000 24 77 0 0 1 0 0 OR7E24 26648 broad.mit.edu 37 19 9362193 9362193 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:9362193C>T ENST00000456448.1 + 1 588 c.474C>T c.(472-474)ctC>ctT p.L158L NM_001079935.1 NP_001073404.1 Q6IFN5 O7E24_HUMAN olfactory receptor, family 7, subfamily E, member 24 158 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2) 16 ACCCACGCCTCTGTGGCTTCT 0.458000 10 44 0 0 1 0 0 CCR10 2826 broad.mit.edu 37 17 40831892 40831892 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:40831892G>A ENST00000591765.1 - 2 1487 c.102C>T c.(100-102)ttC>ttT p.F34F CCR10_ENST00000332438.4_Silent_p.F256F P46092 CCR10_HUMAN chemokine (C-C motif) receptor 10 256 integral to plasma membrane lung(1)|ovary(1)|skin(1) 3 Breast(137;0.000153) BRCA - Breast invasive adenocarcinoma(366;0.14) GCAGCACCACGAAGGCCGCCA 0.711000 5 18 0 0 1 0 0 TIFAB 497189 broad.mit.edu 37 5 134785491 134785491 + Nonsense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:134785491G>A ENST00000537858.1 - 2 339 c.139C>T c.(139-141)Cag>Tag p.Q47* NM_001099221.1 NP_001092691.1 Q6ZNK6 TIFAB_HUMAN TRAF-interacting protein with forkhead-associated domain, family member B 47 FHA. breast(1)|endometrium(1)|liver(1)|lung(5) 8 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) AGCTGCAGCTGGAGGTGGGCG 0.672000 27 75 0 0 1 0 0 ACAN 176 broad.mit.edu 37 15 89417256 89417256 + Splice_Site SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr15:89417256G>T ENST00000439576.2 + 17 7890 c.e17+1 ACAN_ENST00000561243.1_Splice_Site|ACAN_ENST00000559004.1_Splice_Site|ACAN_ENST00000352105.7_Intron NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) TGCACAGACCGTGAGCATCAC 0.657000 15 36 3.27435e-08 3.40685e-08 1 1 0 HMGCLL1 54511 broad.mit.edu 37 6 55406893 55406893 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:55406893C>G ENST00000398661.2 - 3 375 c.244G>C c.(244-246)Gaa>Caa p.E82Q HMGCLL1_ENST00000508459.1_Missense_Mutation_p.E52Q|HMGCLL1_ENST00000370850.2_Missense_Mutation_p.E52Q|HMGCLL1_ENST00000274901.4_Missense_Mutation_p.E52Q|HMGCLL1_ENST00000428842.1_Missense_Mutation_p.E52Q|HMGCLL1_ENST00000308161.4_Missense_Mutation_p.E52Q NM_019036.2 NP_061909.2 Q8TB92 HMGC2_HUMAN 3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1 82 hydroxymethylglutaryl-CoA lyase activity|metal ion binding breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 31 Lung NSC(77;0.0875) LUSC - Lung squamous cell carcinoma(124;0.23) GGCCCAACTTCTACTATTTTA 0.318000 4 25 0 0 1 0 0 CKMT2 1160 broad.mit.edu 37 5 80553673 80553673 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:80553673G>C ENST00000424301.2 + 8 1115 c.877G>C c.(877-879)Gaa>Caa p.E293Q CKMT2-AS1_ENST00000505295.1_RNA|CKMT2_ENST00000254035.4_Missense_Mutation_p.E293Q|CKMT2-AS1_ENST00000511495.1_RNA|CKMT2-AS1_ENST00000502041.2_RNA|CKMT2-AS1_ENST00000501927.2_RNA|CKMT2-AS1_ENST00000503483.2_RNA|CKMT2_ENST00000437669.1_Missense_Mutation_p.E293Q|CKMT2-AS1_ENST00000500148.2_RNA|CKMT2-AS1_ENST00000512287.1_RNA NM_001825.2 NP_001816.2 P17540 KCRS_HUMAN creatine kinase, mitochondrial 2 (sarcomeric) 293 Phosphagen kinase C-terminal. creatine metabolic process|muscle contraction mitochondrial inner membrane ATP binding|creatine kinase activity breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1) 17 Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336) OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34) Creatine(DB00148) TGGACTAAAAGAAGTAAGATG 0.358000 8 33 0 0 1 0 0 SH2B1 25970 broad.mit.edu 37 16 28883708 28883708 + Nonsense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr16:28883708C>T ENST00000337120.5 + 6 5002 c.1711C>T c.(1711-1713)Cag>Tag p.Q571* SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000395532.4_Nonsense_Mutation_p.Q571*|SH2B1_ENST00000538342.1_Nonsense_Mutation_p.Q235*|SH2B1_ENST00000322610.8_Nonsense_Mutation_p.Q571*|SH2B1_ENST00000359285.5_Nonsense_Mutation_p.Q571*|SH2B1_ENST00000545570.1_Nonsense_Mutation_p.Q261* NM_001145812.1|NM_015503.2 NP_001139284.1|NP_056318.2 Q9NRF2 SH2B1_HUMAN SH2B adaptor protein 1 571 SH2. blood coagulation|intracellular signal transduction cytosol|membrane|nucleus signal transducer activity endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 25 CTTCAACTTCCAGGGCAAGGC 0.617000 20 60 0 0 1 0 0 GPR179 440435 broad.mit.edu 37 17 36486038 36486038 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:36486038C>T ENST00000342292.4 - 11 3434 c.3414G>A c.(3412-3414)gtG>gtA p.V1138V NM_001004334.2 NP_001004334.2 Q6PRD1 GP179_HUMAN G protein-coupled receptor 179 1138 integral to membrane|plasma membrane G-protein coupled receptor activity breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) CCTGCTTACTCACCGCCTTGG 0.632000 37 126 0 0 1 0 0 RNF13 11342 broad.mit.edu 37 3 149678634 149678634 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:149678634G>A ENST00000344229.3 + 11 1591 c.889G>A c.(889-891)Gac>Aac p.D297N RNF13_ENST00000392894.3_Missense_Mutation_p.D297N|RNF13_ENST00000361785.6_Missense_Mutation_p.D178N NM_007282.4 NP_009213.1 O43567 RNF13_HUMAN ring finger protein 13 297 protein autoubiquitination endoplasmic reticulum membrane|Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane|nuclear inner membrane ubiquitin-protein ligase activity|zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(2) 11 all_neural(597;0.0138)|Myeloproliferative disorder(1037;0.0255) LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066) CTCTGACACAGACAGTAGTCA 0.448000 20 61 0 0 1 0 0 WDR96 80217 broad.mit.edu 37 10 105948061 105948061 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:105948061C>T ENST00000357060.3 - 13 1769 c.1654G>A c.(1654-1656)Gag>Aag p.E552K WDR96_ENST00000278064.2_Missense_Mutation_p.E483K|WDR96_ENST00000428666.1_Missense_Mutation_p.E553K NM_025145.5 NP_079421.5 Q8NDM7 WDR96_HUMAN WD repeat domain 96 552 NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 72 GTGAACATCTCCAACCTGCTT 0.438000 18 48 0 0 1 0 0 MGAT1 4245 broad.mit.edu 37 5 180219580 180219580 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:180219580G>A ENST00000446023.2 - 3 1142 c.392C>T c.(391-393)tCg>tTg p.S131L MGAT1_ENST00000333055.3_Missense_Mutation_p.S131L|MGAT1_ENST00000427865.2_Missense_Mutation_p.S131L|MGAT1_ENST00000307826.4_Missense_Mutation_p.S131L|MGAT1_ENST00000393340.3_Missense_Mutation_p.S131L NM_001114617.1|NM_001114618.1 NP_001108089.1|NP_001108090.1 P26572 MGAT1_HUMAN mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase 131 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1) 13 all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GAGCTCAGCCGAGGGCCGATA 0.672000 19 65 0 0 1 0 0 RGS9 8787 broad.mit.edu 37 17 63156421 63156421 + Silent SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:63156421C>G ENST00000449996.3 + 4 348 c.276C>G c.(274-276)ctC>ctG p.L92L RGS9_ENST00000577186.1_3'UTR|RGS9_ENST00000262406.9_Silent_p.L92L|RGS9_ENST00000443584.3_Silent_p.L92L NM_001081955.2 NP_001075424.1 O75916 RGS9_HUMAN regulator of G-protein signaling 9 92 DEP. intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3) 41 CCAAGAATCTCATTCTCAAGC 0.478000 24 84 0 0 1 0 0 GPR84 53831 broad.mit.edu 37 12 54756722 54756722 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:54756722C>T ENST00000551809.1 - 1 1549 c.914G>A c.(913-915)aGa>aAa p.R305K RP11-753H16.3_ENST00000550474.1_RNA|GPR84_ENST00000267015.3_Missense_Mutation_p.R305K|RP11-753H16.5_ENST00000552785.1_RNA Q9NQS5 GPR84_HUMAN G protein-coupled receptor 84 305 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1) 18 CGGAGCTCTTCTGGCTCCTTT 0.507000 50 147 0 0 1 0 0 WFIKKN2 124857 broad.mit.edu 37 17 48917594 48917594 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:48917594G>C ENST00000311378.4 + 2 1473 c.945G>C c.(943-945)gaG>gaC p.E315D WFIKKN2_ENST00000426127.1_Missense_Mutation_p.E222D|RP11-506D12.5_ENST00000572491.2_RNA NM_175575.5 NP_783165.1 Q8TEU8 WFKN2_HUMAN WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2 315 extracellular region metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1) 29 BRCA - Breast invasive adenocarcinoma(22;1.09e-08) CCACCTCAGAGAGCAGCCCCA 0.662000 22 72 0 0 1 0 0 ZNF750 79755 broad.mit.edu 37 17 80790213 80790213 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:80790213G>C ENST00000269394.3 - 2 951 c.118C>G c.(118-120)Ctt>Gtt p.L40V TBCD_ENST00000539345.2_Intron|ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000355528.4_Intron|TBCD_ENST00000397466.2_Intron NM_024702.2 NP_078978.2 Q32MQ0 ZN750_HUMAN zinc finger protein 750 40 intracellular zinc ion binding NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 31 Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0514)|all_epithelial(8;0.0748) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149) TGATTAAAAAGATGTGACTTC 0.418000 71 62 0 0 1 0 0 DNAJC11 55735 broad.mit.edu 37 1 6727843 6727843 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:6727843C>T ENST00000377577.5 - 4 427 c.304G>A c.(304-306)Gaa>Aaa p.E102K DNAJC11_ENST00000377573.5_Missense_Mutation_p.E12K|DNAJC11_ENST00000349363.6_Missense_Mutation_p.E64K|DNAJC11_ENST00000294401.7_Missense_Mutation_p.E102K|DNAJC11_ENST00000542246.1_Missense_Mutation_p.E64K NM_018198.3 NP_060668.2 Q9NVH1 DJC11_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 11 102 protein folding heat shock protein binding|unfolded protein binding NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1) 32 Ovarian(185;0.0265)|all_lung(157;0.154) all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156) Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649) TCTCGAATTTCAGCAGGGGTT 0.522000 17 45 0 0 1 0 0 IQCB1 9657 broad.mit.edu 37 3 121547781 121547781 + Missense_Mutation SNP C C A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:121547781C>A ENST00000310864.6 - 3 241 c.27G>T c.(25-27)agG>agT p.R9S IQCB1_ENST00000349820.6_Missense_Mutation_p.R9S NM_001023570.2 NP_001018864.2 Q15051 IQCB1_HUMAN IQ motif containing B1 9 cilium assembly|maintenance of organ identity|photoreceptor cell maintenance centrosome|photoreceptor connecting cilium calmodulin binding NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1) 30 GBM - Glioblastoma multiforme(114;0.0983) TAGATAAGATCCTTGGGTCTG 0.348000 6 40 0.00116845 0.00118168 1 1 0 TMEM95 339168 broad.mit.edu 37 17 7258907 7258907 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:7258907G>A ENST00000389982.4 + 2 254 c.172G>A c.(172-174)Gag>Aag p.E58K TMEM95_ENST00000330767.4_Missense_Mutation_p.E58K|TMEM95_ENST00000576060.1_Missense_Mutation_p.E58K Q3KNT9 TMM95_HUMAN transmembrane protein 95 58 integral to membrane large_intestine(1)|lung(2) 3 Prostate(122;0.173) CTCCACAGATGAGGTGTCCAT 0.547000 4 6 0 0 1 0 0 CC2D2B 387707 broad.mit.edu 37 10 97769626 97769626 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:97769626G>C ENST00000371198.2 + 12 1379 c.339G>C c.(337-339)aaG>aaC p.K113N ENTPD1-AS1_ENST00000416301.1_RNA|CC2D2B_ENST00000344386.3_Missense_Mutation_p.K22N|ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1-AS1_ENST00000452728.1_RNA|CC2D2B_ENST00000410012.2_Missense_Mutation_p.K22N|RP11-690P14.4_ENST00000475252.2_3'UTR|ENTPD1-AS1_ENST00000454638.1_RNA Q6DHV5 C2D2B_HUMAN coiled-coil and C2 domain containing 2B 22 large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1) 10 Colorectal(252;0.158) Epithelial(162;7.08e-08)|all cancers(201;2.71e-06) ATATAAGAAAGAATTGGCTTG 0.338000 11 36 0 0 1 0 0 SEMA5A 9037 broad.mit.edu 37 5 9136626 9136626 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:9136626G>C ENST00000382496.5 - 13 2254 c.1589C>G c.(1588-1590)tCt>tGt p.S530C NM_003966.2 NP_003957.2 Q13591 SEM5A_HUMAN sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A 530 cell adhesion|cell-cell signaling integral to membrane|plasma membrane biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 81 CGGACACGCAGAGATGCTCTG 0.577000 11 46 0 0 1 0 0 GPATCH2L 55668 broad.mit.edu 37 14 76638345 76638345 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:76638345C>G ENST00000261530.7 + 4 953 c.887C>G c.(886-888)tCt>tGt p.S296C GPATCH2L_ENST00000557263.1_Missense_Mutation_p.S296C|GPATCH2L_ENST00000556663.1_Missense_Mutation_p.S296C|GPATCH2L_ENST00000312858.5_Missense_Mutation_p.S296C NM_017926.2 NP_060396.2 G patch domain containing 2-like CTTTTACCTTCTCGGCCAGCT 0.443000 22 57 0 0 1 0 0 TRRAP 8295 broad.mit.edu 37 7 98533223 98533223 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:98533223G>A ENST00000359863.4 + 28 4245 c.4036G>A c.(4036-4038)Gaa>Aaa p.E1346K TRRAP_ENST00000355540.3_Missense_Mutation_p.E1346K|TRRAP_ENST00000446306.3_Missense_Mutation_p.E1345K NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 1346 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) GTGTGAGGCTGAAGATTCAGC 0.388000 7 30 0 0 1 0 0 DNAH11 8701 broad.mit.edu 37 7 21856220 21856220 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:21856220G>A ENST00000328843.6 + 65 10520 c.10489G>A c.(10489-10491)Gag>Aag p.E3497K DNAH11_ENST00000409508.3_Missense_Mutation_p.E3490K Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 3497 AAA 5 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 AACACACTGTGAGCGCTGGCC 0.488000 Kartagener syndrome 9 27 0 0 1 0 0 KBTBD2 25948 broad.mit.edu 37 7 32914744 32914744 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:32914744C>T ENST00000304056.4 - 3 895 c.196G>A c.(196-198)Gaa>Aaa p.E66K AVL9_ENST00000404479.1_Intron|KBTBD2_ENST00000485611.1_5'UTR NM_015483.2 NP_056298.2 Q8IY47 KBTB2_HUMAN kelch repeat and BTB (POZ) domain containing 2 66 BTB. endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1) 17 GBM - Glioblastoma multiforme(11;0.0499) TGTTTGCTTTCACTTAGTCCA 0.393000 35 142 0 0 1 0 0 MPO 4353 broad.mit.edu 37 17 56358002 56358002 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:56358002G>C ENST00000340482.3 - 1 294 c.118C>G c.(118-120)Ctg>Gtg p.L40V MPO_ENST00000225275.3_Missense_Mutation_p.L40V P05164 PERM_HUMAN myeloperoxidase 40 anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling extracellular space|lysosome|nucleus|stored secretory granule chromatin binding|heme binding|heparin binding|peroxidase activity p.L40V(1) breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 46 Cefdinir(DB00535) GGCGTGGCCAGAATGGCCAGG 0.582000 23 80 0 0 1 0 0 RAD54L 8438 broad.mit.edu 37 1 46715746 46715746 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:46715746G>C ENST00000371975.4 + 3 839 c.165G>C c.(163-165)ttG>ttC p.L55F RAD54L_ENST00000442598.1_Missense_Mutation_p.L55F NM_003579.3 NP_003570.2 Q92698 RAD54_HUMAN RAD54-like (S. cerevisiae) 55 meiosis nucleus ATP binding|DNA binding|helicase activity breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 25 Acute lymphoblastic leukemia(166;0.155) Breast(1374;0.0634) KIRC - Kidney renal clear cell carcinoma(1967;0.000896) GGAAACCTTTGAGTCAGCTAA 0.498000 Direct reversal of damage;Homologous recombination 32 97 0 0 1 0 0 SBDS 51119 broad.mit.edu 37 7 66453431 66453431 + Missense_Mutation SNP T T C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:66453431T>C ENST00000246868.2 - 5 863 c.680A>G c.(679-681)gAa>gGa p.E227G NM_016038.2 NP_057122.2 Q9Y3A5 SBDS_HUMAN Shwachman-Bodian-Diamond syndrome 227 bone marrow development|bone mineralization|leukocyte chemotaxis|mature ribosome assembly|mitotic spindle stabilization|positive regulation of translation|ribosomal large subunit biogenesis|rRNA processing cytoplasm|nucleolus|nucleoplasm|spindle pole microtubule binding|ribosome binding|rRNA binding cervix(1)|endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 7 GCCTTTAGTTTCCTTTTTTAT 0.388000 Gene Conversion """AML, MDS""" Shwachman-Diamond syndrome 16 48 0 0 1 0 0 TPBG 7162 broad.mit.edu 37 6 83075366 83075366 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:83075366C>G ENST00000369750.3 + 2 1305 c.688C>G c.(688-690)Ctg>Gtg p.L230V TPBG_ENST00000535040.1_Missense_Mutation_p.L230V|TPBG_ENST00000543496.1_Missense_Mutation_p.L230V Q13641 TPBG_HUMAN trophoblast glycoprotein 230 cell adhesion integral to plasma membrane central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1) 15 all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897) BRCA - Breast invasive adenocarcinoma(397;0.107) GCGGGATGTGCTGGCCCAACT 0.627000 42 128 0 0 1 0 0 HEPH 9843 broad.mit.edu 37 X 65390566 65390566 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chrX:65390566C>G ENST00000519389.1 + 2 495 c.316C>G c.(316-318)Ctg>Gtg p.L106V HEPH_ENST00000419594.1_Missense_Mutation_p.L55V|HEPH_ENST00000441993.2_Missense_Mutation_p.L55V|HEPH_ENST00000336279.5_Intron|HEPH_ENST00000343002.2_Missense_Mutation_p.L52V|HEPH_ENST00000374727.3_Missense_Mutation_p.L55V Q9BQS7 HEPH_HUMAN hephaestin 52 Plastocyanin-like 1. cellular iron ion homeostasis|copper ion transport|transmembrane transport integral to membrane|plasma membrane copper ion binding|oxidoreductase activity endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 89 GAACCAGCCTCTGGACAGTGA 0.507000 9 11 0 0 1 0 0 TRIT1 54802 broad.mit.edu 37 1 40313303 40313303 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:40313303G>A ENST00000316891.5 - 7 859 c.845C>T c.(844-846)tCa>tTa p.S282L TRIT1_ENST00000541099.1_Intron|TRIT1_ENST00000441669.2_Missense_Mutation_p.S200L|TRIT1_ENST00000372818.1_Missense_Mutation_p.S282L|TRIT1_ENST00000545233.1_Missense_Mutation_p.S36L|TRIT1_ENST00000491865.1_Intron|TRIT1_ENST00000537440.1_Intron|TRIT1_ENST00000537223.1_Intron NM_017646.4 NP_060116.2 Q9H3H1 MOD5_HUMAN tRNA isopentenyltransferase 1 282 Interaction with substrate tRNA (By similarity). tRNA processing mitochondrion ATP binding|metal ion binding|tRNA dimethylallyltransferase activity breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1) 15 all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) GAAGCCAATTGATTGGAAGAT 0.458000 43 111 0 0 1 0 0 ZCCHC8 55596 broad.mit.edu 37 12 122983381 122983381 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:122983381G>C ENST00000336229.4 - 2 365 c.235C>G c.(235-237)Cga>Gga p.R79G ZCCHC8_ENST00000543897.1_5'UTR|ZCCHC8_ENST00000536306.1_5'UTR NM_017612.3 NP_060082.2 Q6NZY4 ZCHC8_HUMAN zinc finger, CCHC domain containing 8 79 catalytic step 2 spliceosome nucleic acid binding|protein binding|zinc ion binding endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 23 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202) TACCTCGGTCGAGTCAGAATG 0.294000 5 14 0 0 1 0 0 EZH2 2146 broad.mit.edu 37 7 148514356 148514356 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:148514356G>A ENST00000320356.2 - 11 1489 c.1368C>T c.(1366-1368)ttC>ttT p.F456F EZH2_ENST00000350995.2_Silent_p.F412F|EZH2_ENST00000460911.1_Silent_p.F451F|EZH2_ENST00000478654.1_Silent_p.F442F|EZH2_ENST00000483967.1_Silent_p.F442F|EZH2_ENST00000476773.1_Silent_p.F442F|EZH2_ENST00000541220.1_Silent_p.F442F NM_001203247.1|NM_001203248.1|NM_004456.4 NP_001190176.1|NP_001190177.1|NP_004447.2 Q15910 EZH2_HUMAN enhancer of zeste homolog 2 (Drosophila) 451 negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex DNA binding|histone-lysine N-methyltransferase activity|protein binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3) 359 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00239) CAATGGCACAGAAATTGTCAT 0.378000 Mis DLBCL 7 23 0 0 1 0 0 C10orf12 26148 broad.mit.edu 37 10 98744637 98744637 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:98744637G>C ENST00000286067.2 + 1 3597 c.3490G>C c.(3490-3492)Gaa>Caa p.E1164Q NM_015652.2 NP_056467.2 Q8N655 CJ012_HUMAN chromosome 10 open reading frame 12 1164 NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4) 45 Colorectal(252;0.172) Epithelial(162;6.35e-09)|all cancers(201;3.21e-07) CTCCAGGAAAGAAAAAGAGAA 0.493000 23 58 0 0 1 0 0 UHMK1 127933 broad.mit.edu 37 1 162482610 162482610 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:162482610G>A ENST00000489294.1 + 6 1179 c.1021G>A c.(1021-1023)Gaa>Aaa p.E341K UHMK1_ENST00000282169.8_3'UTR|UHMK1_ENST00000545294.1_Missense_Mutation_p.E267K|UHMK1_ENST00000538489.1_Missense_Mutation_p.E341K NM_175866.4 NP_787062.1 Q8TAS1 UHMK1_HUMAN U2AF homology motif (UHM) kinase 1 341 RRM. cell cycle arrest|neuron projection development|peptidyl-serine phosphorylation|positive regulation of translational initiation|protein autophosphorylation|regulation of protein export from nucleus axon|dendrite cytoplasm|neuronal RNA granule|nucleus protein binding|protein serine/threonine kinase activity|ribonucleoprotein binding|RNA binding endometrium(1)|large_intestine(2)|lung(6)|prostate(2) 11 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.126) AGAGGAATATGAAGGTTAGTG 0.328000 35 81 0 0 1 0 0 RANBP2 5903 broad.mit.edu 37 2 109381763 109381763 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:109381763G>A ENST00000283195.6 + 20 4894 c.4768G>A c.(4768-4770)Gag>Aag p.E1590K NM_006267.4 NP_006258.3 P49792 RBP2_HUMAN RAN binding protein 2 1590 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(34) NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 129 TGGTACTTCAGAGACAAGCAA 0.453000 43 125 0 0 1 0 0 UGT1A5 54579 broad.mit.edu 37 2 234621763 234621763 + Silent SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:234621763C>G ENST00000373414.3 + 1 126 c.126C>G c.(124-126)ctC>ctG p.L42L UGT1A6_ENST00000305139.6_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000608381.1_Silent_p.L42L|UGT1A1_ENST00000609637.1_Intron|UGT1A6_ENST00000373424.1_Intron cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1) 22 Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128) Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645) GCCACTGGCTCAGCATGCGGG 0.602000 17 72 0 0 1 0 0 CDH6 1004 broad.mit.edu 37 5 31316392 31316392 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:31316392G>A ENST00000265071.2 + 9 1733 c.1468G>A c.(1468-1470)Gag>Aag p.E490K CDH6_ENST00000514738.1_Missense_Mutation_p.E435K NM_004932.3 NP_004923.1 P55285 CADH6_HUMAN cadherin 6, type 2, K-cadherin (fetal kidney) 490 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion cytoplasm|integral to membrane|nucleus|plasma membrane calcium ion binding NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1) 77 AGAATTTGCTGAGTTCTATGA 0.333000 6 27 0 0 1 0 0 DSC1 1823 broad.mit.edu 37 18 28720060 28720060 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr18:28720060C>G ENST00000257197.3 - 10 1726 c.1465G>C c.(1465-1467)Gaa>Caa p.E489Q RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Missense_Mutation_p.E489Q NM_004948.3 NP_004939.1 Q08554 DSC1_HUMAN desmocollin 1 489 Cadherin 4. homophilic cell adhesion desmosome|gap junction|integral to membrane|membrane fraction calcium ion binding p.E489*(2) breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 53 OV - Ovarian serous cystadenocarcinoma(10;0.00778) CCAAGGAGTTCTTGGCCAGCT 0.428000 22 74 0 0 1 0 0 PCMTD1 115294 broad.mit.edu 37 8 52733177 52733177 + Nonsense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:52733177G>A ENST00000360540.5 - 7 1214 c.808C>T c.(808-810)Caa>Taa p.Q270* PCMTD1_ENST00000544451.1_Nonsense_Mutation_p.Q194*|PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000522514.1_Nonsense_Mutation_p.Q270* NM_052937.2 NP_443169.2 Q96MG8 PCMD1_HUMAN protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 270 cytoplasm protein-L-isoaspartate (D-aspartate) O-methyltransferase activity NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1) 37 Lung NSC(129;0.0795)|all_lung(136;0.144) GGAGCCCTTTGAGGAATCCCC 0.428000 9 143 0 0 1 0 0 FBXL13 222235 broad.mit.edu 37 7 102462632 102462632 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:102462632C>G ENST00000393772.2 - 18 2215 c.1789G>C c.(1789-1791)Gag>Cag p.E597Q FBXL13_ENST00000379305.3_Missense_Mutation_p.E597Q|FBXL13_ENST00000313221.4_Missense_Mutation_p.E625Q|FBXL13_ENST00000456695.1_Missense_Mutation_p.E343Q|FBXL13_ENST00000436908.1_Missense_Mutation_p.E625Q|FBXL13_ENST00000379308.3_Missense_Mutation_p.E580Q|FBXL13_ENST00000455112.2_Missense_Mutation_p.E580Q|FBXL13_ENST00000379306.3_Missense_Mutation_p.E343Q Q8NEE6 FXL13_HUMAN F-box and leucine-rich repeat protein 13 625 NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1) 27 GATAACATCTCCATTGCTGAG 0.428000 19 56 0 0 1 0 0 CXCL13 10563 broad.mit.edu 37 4 78528941 78528941 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr4:78528941G>A ENST00000286758.4 + 3 227 c.149G>A c.(148-150)cGa>cAa p.R50Q NM_006419.2 NP_006410.1 O43927 CXL13_HUMAN chemokine (C-X-C motif) ligand 13 50 activation of Rap GTPase activity|B cell chemotaxis|cell-cell signaling|chronic inflammatory response|defense response to bacterium|elevation of cytosolic calcium ion concentration|endothelial cell chemotaxis to fibroblast growth factor|germinal center formation|lymphocyte chemotaxis across high endothelial venule|negative regulation of apoptosis|positive regulation of cell-cell adhesion mediated by integrin|positive regulation of integrin activation|positive regulation of T cell chemotaxis|regulation of angiogenesis|regulation of humoral immune response extracellular space|soluble fraction CCR10 chemokine receptor binding|chemokine activity|CXCR3 chemokine receptor binding|CXCR5 chemokine receptor binding|fibroblast growth factor 2 binding|heparin binding|protein heterodimerization activity|receptor agonist activity large_intestine(1)|ovary(1)|skin(1)|urinary_tract(1) 4 TTCATTGATCGAATTCAAATC 0.393000 21 66 0 0 1 0 0 TLL2 7093 broad.mit.edu 37 10 98145844 98145844 + Nonsense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:98145844G>A ENST00000357947.3 - 15 2206 c.1981C>T c.(1981-1983)Cag>Tag p.Q661* NM_012465.3 NP_036597.1 Q9Y6L7 TLL2_HUMAN tolloid-like 2 661 CUB 3. cell differentiation|multicellular organismal development|proteolysis extracellular region calcium ion binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3) 58 Colorectal(252;0.0846) Epithelial(162;1.51e-07)|all cancers(201;7.59e-06) ACTTCAAACTGAAGGGAGATC 0.522000 23 73 0 0 1 0 0 FAM109A 144717 broad.mit.edu 37 12 111801049 111801049 + Nonsense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:111801049G>C ENST00000450786.2 - 2 286 c.125C>G c.(124-126)tCa>tGa p.S42* FAM109A_ENST00000548163.1_Missense_Mutation_p.I61M|FAM109A_ENST00000361483.3_Missense_Mutation_p.I74M|FAM109A_ENST00000547838.2_Missense_Mutation_p.I61M|FAM109A_ENST00000392658.5_Missense_Mutation_p.I61M Q8N4B1 SESQ1_HUMAN family with sequence similarity 109, member A 0 PH. endosome organization|receptor recycling|retrograde transport, endosome to Golgi clathrin-coated vesicle|early endosome|recycling endosome|trans-Golgi network protein homodimerization activity breast(1)|endometrium(1)|lung(1)|ovary(1) 4 CCTCCAGGATGATGACGCCCA 0.701000 13 49 0 0 1 0 0 EPHB6 2051 broad.mit.edu 37 7 142566063 142566063 + Silent SNP T T C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:142566063T>C ENST00000392957.2 + 14 2770 c.1983T>C c.(1981-1983)ctT>ctC p.L661L EPHB6_ENST00000411471.2_Silent_p.L384L|EPHB6_ENST00000442129.1_Silent_p.L661L NM_004445.3 NP_004436.3 O15197 EPHB6_HUMAN EPH receptor B6 661 extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1) 87 Melanoma(164;0.059) TCCGAGAACTTGCCCGGGAAG 0.567000 20 79 0 0 1 0 0 CCR10 2826 broad.mit.edu 37 17 40831733 40831733 + Silent SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:40831733G>C ENST00000591765.1 - 2 1646 c.261C>G c.(259-261)ctC>ctG p.L87L CCR10_ENST00000332438.4_Silent_p.L309L P46092 CCR10_HUMAN chemokine (C-C motif) receptor 10 309 integral to plasma membrane lung(1)|ovary(1)|skin(1) 3 Breast(137;0.000153) BRCA - Breast invasive adenocarcinoma(366;0.14) GGAAGGCGTAGAGAACGGGAT 0.721000 5 40 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76422558 76422558 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:76422558C>G ENST00000389840.5 - 79 13088 c.12964G>C c.(12964-12966)Gac>Cac p.D4322H DNAH17_ENST00000585328.1_Missense_Mutation_p.D4294H|DNAH17_ENST00000586052.1_5'UTR|AC061992.1_ENST00000600087.1_Silent_p.V50V dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) AGCAGCAGGTCTGCGTACCAG 0.627000 14 31 0 0 1 0 0 ZFP36L1 677 broad.mit.edu 37 14 69262700 69262700 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:69262700G>A ENST00000408913.2 - 1 490 c.312C>T c.(310-312)ctC>ctT p.L104L Q07352 TISB_HUMAN ZFP36 ring finger protein-like 1 0 regulation of mRNA stability cytosol|nucleus DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1) 21 all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401) AGGCCGAGGCGAGGCGTGCGT 0.761000 4 24 0 0 1 0 0 TTLL2 83887 broad.mit.edu 37 6 167754887 167754887 + Nonsense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:167754887C>G ENST00000239587.5 + 3 1587 c.1499C>G c.(1498-1500)tCa>tGa p.S500* NM_031949.4 NP_114155.4 Q9BWV7 TTLL2_HUMAN tubulin tyrosine ligase-like family, member 2 500 protein modification process ATP binding|tubulin-tyrosine ligase activity central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(66;7.8e-06)|Ovarian(120;0.024) OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492) TTTCATCTGTCAACAAGGGAG 0.567000 18 91 0 0 1 0 0 RORA 6095 broad.mit.edu 37 15 60789729 60789729 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr15:60789729C>T ENST00000335670.6 - 11 1597 c.1497G>A c.(1495-1497)gtG>gtA p.V499V RORA_ENST00000309157.4_Silent_p.V524V|RP11-219B17.1_ENST00000558235.1_RNA|RORA_ENST00000261523.5_Silent_p.V532V|RORA_ENST00000449337.2_Silent_p.V444V|RP11-219B17.1_ENST00000501579.2_RNA|RP11-219B17.1_ENST00000558140.1_RNA|RP11-219B17.1_ENST00000559824.1_RNA NM_134261.2 NP_599023.1 P35398 RORA_HUMAN RAR-related orphan receptor A 532 Ligand-binding. I -> M (in Ref. 2; AAA02963). positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 21 AATGAAGTCGCACAATGTCTG 0.378000 10 44 0 0 1 0 0 NDUFB9 4715 broad.mit.edu 37 8 125555327 125555327 + Splice_Site SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:125555327G>C ENST00000522532.1 + 2 148 c.e2-1 NDUFB9_ENST00000518008.1_Splice_Site|NDUFB9_ENST00000517367.1_Intron|NDUFB9_ENST00000276689.3_Splice_Site Q9Y6M9 NDUB9_HUMAN NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa mitochondrial electron transport, NADH to ubiquinone|sensory perception of sound|transport mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1) 8 Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) NADH(DB00157) TTTGGTTTAAGAGACAAATAC 0.453000 14 63 0 0 1 0 0 TNFRSF21 27242 broad.mit.edu 37 6 47254118 47254118 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:47254118C>G ENST00000296861.2 - 2 703 c.310G>C c.(310-312)Gag>Cag p.E104Q NM_014452.3 NP_055267.1 O75509 TNR21_HUMAN tumor necrosis factor receptor superfamily, member 21 104 cellular lipid metabolic process cytoplasm|integral to membrane protein binding|receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2) 21 Lung(136;0.189) TGGCATTTCTCTATGCCATTC 0.522000 46 124 0 0 1 0 0 CELSR2 1952 broad.mit.edu 37 1 109794764 109794764 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:109794764C>T ENST00000271332.3 + 1 2124 c.2063C>T c.(2062-2064)tCc>tTc p.S688F NM_001408.2 NP_001399.1 Q9HCU4 CELR2_HUMAN cadherin, EGF LAG seven-pass G-type receptor 2 688 Cadherin 5. dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2) 82 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) GTTACCGCCTCCGATGGCACT 0.557000 40 65 0 0 1 0 0 PEG3 5178 broad.mit.edu 37 19 57333096 57333096 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:57333096G>A ENST00000326441.9 - 7 955 c.592C>T c.(592-594)Cct>Tct p.P198S ZIM2_ENST00000599935.1_Missense_Mutation_p.P73S|ZIM2_ENST00000391708.3_Missense_Mutation_p.P73S|ZIM2_ENST00000593711.1_Missense_Mutation_p.P73S|PEG3_ENST00000423103.2_Missense_Mutation_p.P198S|ZIM2_ENST00000221722.5_Missense_Mutation_p.P73S|ZIM2_ENST00000601070.1_Missense_Mutation_p.P73S|PEG3_ENST00000593695.1_Missense_Mutation_p.P72S|PEG3_ENST00000598410.1_Missense_Mutation_p.P73S NM_006210.2 NP_006201.1 Q9GZU2 PEG3_HUMAN paternally expressed 3 198 apoptosis|viral reproduction cytoplasm|nucleus nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6) 170 Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0269) GCCACCACAGGAAGGGAAAGA 0.537000 38 126 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152283449 152283449 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:152283449C>T ENST00000368799.1 - 3 3948 c.3913G>A c.(3913-3915)Ggc>Agc p.G1305S FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1305 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) tgtctggagccatctcttgac 0.547000 Ichthyosis 82 258 0 0 1 0 0 KIAA1598 57698 broad.mit.edu 37 10 118704476 118704476 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:118704476C>T ENST00000355371.4 - 8 1167 c.670G>A c.(670-672)Gag>Aag p.E224K KIAA1598_ENST00000260777.10_Missense_Mutation_p.E224K|KIAA1598_ENST00000497044.1_5'UTR|KIAA1598_ENST00000392903.2_Missense_Mutation_p.E224K|KIAA1598_ENST00000392901.4_Missense_Mutation_p.E164K NM_001127211.2|NM_001258298.1|NM_001258299.1 NP_001120683.1|NP_001245227.1|NP_001245228.1 A0MZ66 SHOT1_HUMAN KIAA1598 224 axon guidance axon endometrium(1)|kidney(1)|large_intestine(5)|lung(3) 10 all cancers(201;0.00494) AGGTCCTTCTCCAGCTCCAGG 0.393000 51 199 0 0 1 0 0 IRX4 50805 broad.mit.edu 37 5 1879900 1879900 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:1879900C>T ENST00000505790.1 - 5 910 c.454G>A c.(454-456)Gag>Aag p.E152K IRX4_ENST00000231357.2_Missense_Mutation_p.E152K|IRX4_ENST00000505938.1_5'UTR|IRX4_ENST00000513692.1_Missense_Mutation_p.E152K NM_001278634.1 NP_001265563.1 P78413 IRX4_HUMAN iroquois homeobox 4 152 heart development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|lung(7)|ovary(1)|prostate(1) 10 GBM - Glioblastoma multiforme(108;0.242) CTGGTGGTCTCGCGCGTGGCG 0.642000 40 93 0 0 1 0 0 OR11H12 440153 broad.mit.edu 37 14 19378098 19378098 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:19378098C>T ENST00000550708.1 + 1 577 c.505C>T c.(505-507)Ctg>Ttg p.L169L NM_001013354.1|NM_001197287.1 NP_001013372.1|NP_001184216.1 B2RN74 O11HC_HUMAN olfactory receptor, family 11, subfamily H, member 12 169 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TTGTGGATTTCTGTGGTTCCT 0.483000 11 274 0 0 1 0 0 PCIF1 63935 broad.mit.edu 37 20 44574946 44574946 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr20:44574946C>T ENST00000372409.3 + 14 1900 c.1536C>T c.(1534-1536)ttC>ttT p.F512F PCIF1_ENST00000479348.1_3'UTR NM_022104.3 NP_071387.1 Q9H4Z3 PCIF1_HUMAN PDX1 C-terminal inhibiting factor 1 512 nucleus central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 20 TCGAGTGCTTCGCCTCACCCC 0.642000 55 163 0 0 1 0 0 CCR10 2826 broad.mit.edu 37 17 40831709 40831709 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:40831709G>A ENST00000591765.1 - 2 1670 c.285C>T c.(283-285)ttC>ttT p.F95F CCR10_ENST00000332438.4_Silent_p.F317F P46092 CCR10_HUMAN chemokine (C-C motif) receptor 10 317 integral to plasma membrane lung(1)|ovary(1)|skin(1) 3 Breast(137;0.000153) BRCA - Breast invasive adenocarcinoma(366;0.14) GGTCCTGGCGGAAGCGCAGGC 0.706000 11 41 0 0 1 0 0 C6orf136 221545 broad.mit.edu 37 6 30619214 30619214 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:30619214C>T ENST00000293604.6 + 4 1471 c.1278C>T c.(1276-1278)ttC>ttT p.F426F C6orf136_ENST00000376473.5_Silent_p.F245F|C6orf136_ENST00000528347.2_Silent_p.F102F|C6orf136_ENST00000376471.4_Silent_p.F111F NM_001161376.1 NP_001154848.1 Q5SQH8 CF136_HUMAN chromosome 6 open reading frame 136 245 endometrium(1)|large_intestine(2)|lung(6)|ovary(1) 10 TTTTGCGGTTCTACAAGCGTG 0.498000 103 366 0 0 1 0 0 NCOA1 8648 broad.mit.edu 37 2 24929894 24929894 + Missense_Mutation SNP G G A rs144856306 TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:24929894G>A ENST00000405141.1 + 14 2266 c.1555G>A c.(1555-1557)Gtt>Att p.V519I NCOA1_ENST00000288599.5_Missense_Mutation_p.V519I|NCOA1_ENST00000406961.1_Missense_Mutation_p.V519I|NCOA1_ENST00000348332.3_Missense_Mutation_p.V519I|NCOA1_ENST00000407230.1_Missense_Mutation_p.V368I|NCOA1_ENST00000395856.3_Missense_Mutation_p.V519I|NCOA1_ENST00000538539.1_Missense_Mutation_p.V519I Q15788 NCOA1_HUMAN nuclear receptor coactivator 1 519 Interaction with STAT3.|Ser-rich. PAX3/NCOA1(8) breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 53 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AAGCTCTCCCGTTGGCATGAC 0.423000 T PAX3 alveolar rhadomyosarcoma 22 68 0 0 1 0 0 GABRA3 2556 broad.mit.edu 37 X 151358368 151358368 + Missense_Mutation SNP C C A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chrX:151358368C>A ENST00000370314.4 - 9 1215 c.977G>T c.(976-978)aGa>aTa p.R326I GABRA3_ENST00000497894.1_5'UTR|GABRA3_ENST00000535043.1_Missense_Mutation_p.R326I NM_000808.3 NP_000799.1 P34903 GBRA3_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 3 326 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6) 37 Acute lymphoblastic leukemia(192;6.56e-05) Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TAAGGAATTTCTGGCACTGAT 0.458000 20 29 1.66031e-10 1.73708e-10 1 1 0 SLC12A5 57468 broad.mit.edu 37 20 44678355 44678355 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr20:44678355G>A ENST00000243964.3 + 17 2205 c.2107G>A c.(2107-2109)Ggc>Agc p.G703S SLC12A5_ENST00000454036.2_Missense_Mutation_p.G726S NM_020708.4 NP_065759.1 Q9H2X9 S12A5_HUMAN solute carrier family 12 (potassium/chloride transporter), member 5 726 potassium ion transport|sodium ion transport integral to membrane potassium:chloride symporter activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 80 Myeloproliferative disorder(115;0.0122) Bumetanide(DB00887)|Potassium Chloride(DB00761) GGCGGGGAAGGGCCTGACCAT 0.622000 3 8 0 0 1 0 0 PCDHA11 56138 broad.mit.edu 37 5 140248873 140248873 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:140248873G>A ENST00000398640.2 + 1 185 c.185G>A c.(184-186)cGc>cAc p.R62H PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron NM_018902.3 NP_061725.1 breast(1)|lung(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTGGTGCAGCGCCTGTTCCGG 0.617000 65 257 0 0 1 0 0 ANKRD20A11P 391267 broad.mit.edu 37 21 15323448 15323448 + RNA SNP T T C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr21:15323448T>C ENST00000344693.5 - 0 862 NR_027270.1 GGATCTTCCATTTCAGTGCTA 0.308000 4 56 0 0 1 0 0 MRPS7 51081 broad.mit.edu 37 17 73258675 73258675 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:73258675G>A ENST00000579761.1 + 2 408 c.181G>A c.(181-183)Gag>Aag p.E61K MRPS7_ENST00000245539.6_Missense_Mutation_p.E61K|MRPS7_ENST00000579002.1_Missense_Mutation_p.E90K Q9Y2R9 RT07_HUMAN mitochondrial ribosomal protein S7 61 translation cytosolic small ribosomal subunit|mitochondrion protein binding|RNA binding|structural constituent of ribosome breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2) 6 all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07) all cancers(21;3.02e-07)|Epithelial(20;2.92e-06) GCTAACTGAGGAGGAGAAATA 0.473000 45 188 0 0 1 0 0 GCH1 2643 broad.mit.edu 37 14 55310749 55310749 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:55310749G>A ENST00000491895.2 - 6 927 c.739C>T c.(739-741)Ctc>Ttc p.L247F GCH1_ENST00000395514.1_Missense_Mutation_p.L247F|GCH1_ENST00000254299.4_5'UTR|GCH1_ENST00000536224.2_Intron|GCH1_ENST00000543643.2_Intron NM_000161.2 NP_000152.1 P30793 GCH1_HUMAN GTP cyclohydrolase 1 247 dopamine biosynthetic process|GTP catabolic process|neuromuscular process controlling posture|nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|protein homooligomerization|response to interferon-gamma|response to lipopolysaccharide|response to pain|response to tumor necrosis factor|tetrahydrobiopterin biosynthetic process|tetrahydrofolate biosynthetic process cytoplasmic vesicle|cytosol|nuclear membrane|protein complex GTP binding|GTP cyclohydrolase I activity|protein homodimerization activity|zinc ion binding endometrium(2)|lung(7)|skin(2) 11 CTCCTAATGAGAGTCAGGAAC 0.483000 34 87 0 0 1 0 0 YME1L1 10730 broad.mit.edu 37 10 27403470 27403470 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:27403470C>G ENST00000326799.3 - 19 2306 c.2158G>C c.(2158-2160)Gaa>Caa p.E720Q YME1L1_ENST00000376016.3_Missense_Mutation_p.E663Q|YME1L1_ENST00000375972.3_Missense_Mutation_p.E630Q NM_139312.2 NP_647473.1 Q96TA2 YMEL1_HUMAN YME1-like 1 ATPase 720 protein catabolic process|proteolysis membrane|mitochondrion ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 23 ATTCTTATTTCTTGTTCGATG 0.328000 10 39 0 0 1 0 0 NAGA 4668 broad.mit.edu 37 22 42463781 42463781 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr22:42463781G>A ENST00000396398.3 - 3 844 c.312C>T c.(310-312)ttC>ttT p.F104F NAGA_ENST00000402937.1_Silent_p.F104F|NAGA_ENST00000403363.1_Silent_p.F104F NM_000262.2 NP_000253.1 P17050 NAGAB_HUMAN N-acetylgalactosaminidase, alpha- 104 glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process lysosome alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1) 11 AGTCAGCCAGGAAAGGAATGC 0.587000 30 95 0 0 1 0 0 VWCE 220001 broad.mit.edu 37 11 61058812 61058812 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:61058812G>A ENST00000335613.5 - 3 605 c.219C>T c.(217-219)ttC>ttT p.F73F NM_152718.2 NP_689931.2 Q96DN2 VWCE_HUMAN von Willebrand factor C and EGF domains 73 EGF-like 1. extracellular region calcium ion binding biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 37 TCCCACAGCCGAAGGAGCAGA 0.642000 3 26 0 0 1 0 0 GCM2 9247 broad.mit.edu 37 6 10874680 10874680 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:10874680G>A ENST00000379491.4 - 5 1216 c.1069C>T c.(1069-1071)Cgc>Tgc p.R357C RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron NM_004752.3 NP_004743.1 O75603 GCM2_HUMAN glial cells missing homolog 2 (Drosophila) 357 cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|sequence-specific DNA binding NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2) 30 Breast(50;0.0838)|Ovarian(93;0.107) all_hematologic(90;0.135) TAATAAGGGCGAGTGGCCATG 0.532000 89 78 0 0 1 0 0 PRKRIR 5612 broad.mit.edu 37 11 76063502 76063502 + Nonsense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:76063502G>C ENST00000260045.3 - 5 797 c.692C>G c.(691-693)tCa>tGa p.S231* NM_004705.2 NP_004696.2 O43422 P52K_HUMAN protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) 231 negative regulation of cell proliferation|response to stress|signal transduction DNA binding|metal ion binding|protein dimerization activity cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 25 CTGTGTTTTTGAACAAAACAA 0.438000 11 32 0 0 1 0 0 WRN 7486 broad.mit.edu 37 8 30969307 30969307 + Silent SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:30969307C>G ENST00000298139.5 + 19 2514 c.2265C>G c.(2263-2265)gtC>gtG p.V755V NM_000553.4 NP_000544.2 Q14191 WRN_HUMAN Werner syndrome, RecQ helicase-like 755 Helicase C-terminal. base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance centrosome|nucleolus|nucleoplasm 3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3) 60 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) CATTTCTTGTCAAAACAAGGT 0.328000 """Mis, N, F, S""" """osteosarcoma, meningioma, others""" Genes defective in diseases associated with sensitivity to DNA damaging agents Werner syndrome 13 31 0 0 1 0 0 CCDC89 220388 broad.mit.edu 37 11 85396921 85396921 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:85396921C>G ENST00000316398.3 - 1 399 c.253G>C c.(253-255)Gat>Cat p.D85H NM_152723.1 NP_689936.1 Q8N998 CCD89_HUMAN coiled-coil domain containing 89 85 cytoplasm|nucleus NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1) 15 Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572) AGGGCCTCATCTGACCTCCGC 0.592000 22 59 0 0 1 0 0 SLC17A5 26503 broad.mit.edu 37 6 74363522 74363522 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:74363522C>T ENST00000355773.5 - 1 356 c.88G>A c.(88-90)Gaa>Aaa p.E30K SLC17A5_ENST00000393019.3_Missense_Mutation_p.E30K NM_012434.4 NP_036566.1 Q9NRA2 S17A5_HUMAN solute carrier family 17 (acidic sugar transporter), member 5 30 anion transport integral to plasma membrane|lysosomal membrane|membrane fraction sialic acid:hydrogen symporter activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 TTACCGGCTTCGGCCCGTGGG 0.726000 4 9 0 0 1 0 0 ACPP 55 broad.mit.edu 37 3 132051183 132051183 + Missense_Mutation SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:132051183G>T ENST00000336375.5 + 4 541 c.451G>T c.(451-453)Gat>Tat p.D151Y ACPP_ENST00000475741.1_Missense_Mutation_p.D151Y|ACPP_ENST00000351273.7_Missense_Mutation_p.D151Y|ACPP_ENST00000489084.1_3'UTR NM_001099.4 NP_001090.2 P15309 PPAP_HUMAN acid phosphatase, prostate 151 extracellular region|lysosomal membrane 5'-nucleotidase activity|acid phosphatase activity NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 27 TCTTTCTGAAGATCAGGTCAG 0.517000 12 44 6.40141e-05 6.5088e-05 1 1 0 DOK7 285489 broad.mit.edu 37 4 3494825 3494825 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr4:3494825C>T ENST00000340083.5 + 7 1177 c.1112C>T c.(1111-1113)tCa>tTa p.S371L DOK7_ENST00000389653.2_Missense_Mutation_p.S371L|DOK7_ENST00000512714.1_3'UTR|DOK7_ENST00000507039.1_3'UTR NM_173660.4 NP_775931.3 Q18PE1 DOK7_HUMAN docking protein 7 371 positive regulation of protein tyrosine kinase activity cell junction|synapse insulin receptor binding|protein kinase binding kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1) 5 UCEC - Uterine corpus endometrioid carcinoma (64;0.163) GAACTGGGCTCACTGCTCAGC 0.701000 6 19 0 0 1 0 0 MLEC 9761 broad.mit.edu 37 12 121132759 121132759 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:121132759G>A ENST00000228506.3 + 3 975 c.547G>A c.(547-549)Gag>Aag p.E183K MLEC_ENST00000412616.2_Intron NM_014730.2 NP_055545.1 Q14165 MLEC_HUMAN malectin 183 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane carbohydrate binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1) 16 TGTCCAGGGGGAGGTGTCCAC 0.478000 47 121 0 0 1 0 0 ASIC1 41 broad.mit.edu 37 12 50453669 50453669 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:50453669G>A ENST00000228468.4 + 3 875 c.490G>A c.(490-492)Gac>Aac p.D164N ASIC1_ENST00000447966.2_Missense_Mutation_p.D164N NM_020039.3 NP_064423.2 P78348 ACCN2_HUMAN acid-sensing (proton-gated) ion channel 1 164 calcium ion transport|response to pH|signal transduction integral to plasma membrane ligand-gated sodium channel activity|protein binding Amiloride(DB00594) AGCTGGGCACGACATTCGAGA 0.567000 10 40 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62293417 62293417 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:62293417C>G ENST00000378024.4 - 5 8746 c.8472G>C c.(8470-8472)aaG>aaC p.K2824N AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 2824 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) TCTCTGGCATCTTAAACTTTG 0.428000 37 128 0 0 1 0 0 TSNARE1 203062 broad.mit.edu 37 8 143396400 143396400 + Silent SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:143396400G>C ENST00000519651.1 - 6 481 c.378C>G c.(376-378)ctC>ctG p.L126L TSNARE1_ENST00000520166.1_Silent_p.L345L|TSNARE1_ENST00000307180.3_Silent_p.L346L|TSNARE1_ENST00000518928.1_5'UTR|TSNARE1_ENST00000524325.1_Silent_p.L345L Q96NA8 TSNA1_HUMAN t-SNARE domain containing 1 346 vesicle-mediated transport integral to membrane breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1) 20 all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155) TGGCATCTGAGAGCTGGGTTT 0.652000 21 103 0 0 1 0 0 NFS1 9054 broad.mit.edu 37 20 34262520 34262520 + Nonsense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr20:34262520G>C ENST00000374092.4 - 9 1038 c.968C>G c.(967-969)tCa>tGa p.S323* NFS1_ENST00000541387.1_Nonsense_Mutation_p.S272*|NFS1_ENST00000374085.1_Nonsense_Mutation_p.S263*|NFS1_ENST00000397425.1_Nonsense_Mutation_p.S263*|NFS1_ENST00000540053.1_Nonsense_Mutation_p.S121* NM_021100.4 NP_066923.3 Q9Y697 NFS1_HUMAN NFS1 cysteine desulfurase 323 cysteine metabolic process|iron incorporation into metallo-sulfur cluster|Mo-molybdopterin cofactor biosynthetic process|protein complex assembly|water-soluble vitamin metabolic process cytosol|mitochondrial matrix|nucleus cysteine desulfurase activity|protein homodimerization activity|pyridoxal phosphate binding central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 18 Lung NSC(9;0.00608)|all_lung(11;0.00918) BRCA - Breast invasive adenocarcinoma(18;0.0886) L-Alanine(DB00160)|L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114) TGACAACTTTGAGATTCGCTT 0.463000 13 60 0 0 1 0 0 RDH12 145226 broad.mit.edu 37 14 68196080 68196080 + Silent SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:68196080G>C ENST00000551171.1 + 8 1155 c.831G>C c.(829-831)ctG>ctC p.L277L RDH12_ENST00000267502.3_Silent_p.L277L|RDH12_ENST00000539142.1_Silent_p.L277L NM_152443.2 NP_689656.2 Q96NR8 RDH12_HUMAN retinol dehydrogenase 12 (all-trans/9-cis/11-cis) 277 photoreceptor cell maintenance|response to stimulus|retinol metabolic process intracellular binding|retinol dehydrogenase activity large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(4) 12 all cancers(60;0.000704)|OV - Ovarian serous cystadenocarcinoma(108;0.00161)|BRCA - Breast invasive adenocarcinoma(234;0.00953) Vitamin A(DB00162) TGGAGCCCCTGAGTGGCAAGT 0.637000 25 81 0 0 1 0 0 ZNF767 79970 broad.mit.edu 37 7 149318530 149318530 + RNA SNP A A C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:149318530A>C ENST00000463567.1 - 0 306 NR_027788.1 zinc finger family member 767 central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1) 5 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00434) GTCTTCTCGCAATCAGCCAGC 0.612000 46 115 0 0 1 0 0 RBMXL2 27288 broad.mit.edu 37 11 7110619 7110619 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:7110619G>A ENST00000306904.5 + 1 455 c.268G>A c.(268-270)Gag>Aag p.E90K NM_014469.4 NP_055284.3 O75526 HNRGT_HUMAN RNA binding motif protein, X-linked-like 2 90 nucleus|ribonucleoprotein complex nucleotide binding|RNA binding NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 15 Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) ACCGGCGTTCGAGAGCAGCCG 0.736000 6 22 0 0 1 0 0 CEP250 11190 broad.mit.edu 37 20 34065861 34065861 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr20:34065861G>C ENST00000397527.1 + 17 2749 c.2029G>C c.(2029-2031)Gag>Cag p.E677Q CEP250_ENST00000342580.4_Missense_Mutation_p.E677Q|RP3-477O4.14_ENST00000416260.1_RNA|RP3-477O4.14_ENST00000444933.1_RNA|RP3-477O4.14_ENST00000453914.1_RNA NM_007186.3 NP_009117.2 Q9BV73 CP250_HUMAN centrosomal protein 250kDa 677 Gln/Glu-rich. centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex protein C-terminus binding|protein kinase binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Lung NSC(9;0.00156)|all_lung(11;0.00243) BRCA - Breast invasive adenocarcinoma(18;0.0106) GGCTGGGGCTGAGCTGCAGGC 0.532000 5 40 0 0 1 0 0 HYDIN 54768 broad.mit.edu 37 16 70975573 70975573 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr16:70975573C>T ENST00000393567.2 - 43 6969 c.6819G>A c.(6817-6819)atG>atA p.M2273I NM_001270974.1 NP_001257903.1 Q4G0P3 HYDIN_HUMAN HYDIN, axonemal central pair apparatus protein 2273 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 43 Ovarian(137;0.0654) CCTGGGCCTTCATGGCTGCGT 0.527000 30 119 0 0 1 0 0 CYP3A43 64816 broad.mit.edu 37 7 99453289 99453289 + Nonsense_Mutation SNP T T A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:99453289T>A ENST00000354829.2 + 8 849 c.746T>A c.(745-747)tTa>tAa p.L249* CYP3A43_ENST00000415413.1_Intron|CYP3A43_ENST00000312017.5_Nonsense_Mutation_p.L249*|CYP3A43_ENST00000444905.1_Intron|CYP3A43_ENST00000222382.5_Nonsense_Mutation_p.L249*|CYP3A43_ENST00000477658.1_3'UTR|CYP3A43_ENST00000342499.4_Intron|CYP3A43_ENST00000417625.1_Nonsense_Mutation_p.L139* NM_022820.3|NM_057095.1 NP_073731.1|NP_476436.1 Q9HB55 CP343_HUMAN cytochrome P450, family 3, subfamily A, polypeptide 43 249 Missing (in allele CYP3A43*2). xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1) 19 Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323) Cetirizine(DB00341)|Doxycycline(DB00254) ACCCATTTTTTAAAAAATTCC 0.313000 7 17 0 0 1 0 0 CLCA1 1179 broad.mit.edu 37 1 86952367 86952367 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:86952367C>T ENST00000234701.3 + 8 1464 c.1113C>T c.(1111-1113)ctC>ctT p.L371L CLCA1_ENST00000394711.1_Silent_p.L371L A8K7I4 CLCA1_HUMAN chloride channel accessory 1 371 VWFA. calcium ion transport extracellular space|integral to plasma membrane chloride channel activity NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 Lung NSC(277;0.239) all cancers(265;0.0249)|Epithelial(280;0.0476) GGGACACACTCGCCAAAAGAT 0.488000 31 82 0 0 1 0 0 GCNT3 9245 broad.mit.edu 37 15 59911184 59911184 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr15:59911184G>A ENST00000396065.1 + 3 1195 c.747G>A c.(745-747)agG>agA p.R249R GCNT3_ENST00000560585.1_Silent_p.R249R NM_004751.2 NP_004742.1 O95395 GCNT3_HUMAN glucosaminyl (N-acetyl) transferase 3, mucin type 249 protein O-linked glycosylation Golgi membrane|integral to membrane|membrane fraction beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 TGAATGGGAGGAATAGCATGG 0.458000 58 139 0 0 1 0 0 FBF1 85302 broad.mit.edu 37 17 73919562 73919562 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:73919562C>G ENST00000586717.1 - 13 1360 c.1087G>C c.(1087-1089)Gag>Cag p.E363Q FBF1_ENST00000319129.5_Missense_Mutation_p.E362Q|FBF1_ENST00000389570.4_Missense_Mutation_p.E363Q A6NLR5 A6NLR5_HUMAN Fas (TNFRSF6) binding factor 1 362 large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1) 4 CGATGGGCCTCTCTGGTGGGT 0.652000 4 14 0 0 1 0 0 OR4K2 390431 broad.mit.edu 37 14 20344666 20344666 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:20344666G>C ENST00000298642.2 + 1 276 c.240G>C c.(238-240)aaG>aaC p.K80N NM_001005501.1 NP_001005501.1 Q8NGD2 OR4K2_HUMAN olfactory receptor, family 4, subfamily K, member 2 80 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.K80N(1) NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) CCACCCCAAAGATGATTACAG 0.413000 37 417 0 0 1 0 0 C3 718 broad.mit.edu 37 19 6692953 6692953 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:6692953C>T ENST00000245907.6 - 26 3464 c.3372G>A c.(3370-3372)gtG>gtA p.V1124V NM_000064.2 NP_000055.2 P01024 CO3_HUMAN complement component 3 1124 complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3) 72 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) CTTGGTGTATCACGGGCGCAT 0.562000 48 185 0 0 1 0 0 GIPC3 126326 broad.mit.edu 37 19 3590172 3590172 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:3590172G>C ENST00000322315.5 + 6 968 c.923G>C c.(922-924)aGa>aCa p.R308T NM_133261.2 NP_573568.1 Q8TF64 GIPC3_HUMAN GIPC PDZ domain containing family, member 3 308 breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 10 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18) GGCGAGGCCAGAGAGGCCTGT 0.687000 4 10 0 0 1 0 0 N6AMT2 221143 broad.mit.edu 37 13 21331662 21331662 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr13:21331662C>G ENST00000382758.1 - 2 123 c.76G>C c.(76-78)Gag>Cag p.E26Q N6AMT2_ENST00000460374.1_5'UTR|N6AMT2_ENST00000382754.4_Missense_Mutation_p.E26Q Q8WVE0 N6MT2_HUMAN N-6 adenine-specific DNA methyltransferase 2 (putative) 26 methyltransferase activity|nucleic acid binding endometrium(1)|large_intestine(3)|lung(3) 7 all_cancers(29;5.91e-19)|all_epithelial(30;1.42e-15)|all_lung(29;5.9e-14)|Lung SC(185;0.0367) all cancers(112;0.000234)|Epithelial(112;0.000471)|OV - Ovarian serous cystadenocarcinoma(117;0.0111)|Lung(94;0.0161)|LUSC - Lung squamous cell carcinoma(192;0.0431) TGCTTTTGCTCAGCATAAAAT 0.408000 21 59 0 0 1 0 0 GLYAT 10249 broad.mit.edu 37 11 58477493 58477493 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:58477493C>T ENST00000344743.3 - 6 778 c.637G>A c.(637-639)Gag>Aag p.E213K GLYAT_ENST00000529732.1_Missense_Mutation_p.E213K NM_201648.2 NP_964011.2 Q6IB77 GLYAT_HUMAN glycine-N-acyltransferase 213 acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process mitochondrial matrix glycine N-acyltransferase activity|glycine N-benzoyltransferase activity NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1) 16 Breast(21;0.0044)|all_epithelial(135;0.0157) Glycine(DB00145) GGGGTCCCCTCAGGCCCCAGG 0.537000 19 82 0 0 1 0 0 COL11A2 1302 broad.mit.edu 37 6 33135226 33135226 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:33135226G>A ENST00000341947.2 - 56 4326 c.4099C>T c.(4099-4101)Ctg>Ttg p.L1367L COL11A2_ENST00000374708.4_Silent_p.L1281L|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000357486.1_Silent_p.L1346L|COL11A2_ENST00000374712.1_Silent_p.L1286L|COL11A2_ENST00000374714.1_Silent_p.L1341L|COL11A2_ENST00000374713.1_Silent_p.L1320L|COL11A2_ENST00000361917.1_Silent_p.L1260L|COL11A2_ENST00000395197.1_Silent_p.L1307L NM_080680.2 NP_542411.2 P13942 COBA2_HUMAN collagen, type XI, alpha 2 1367 Triple-helical region. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 AGCCCCCTCAGACCATCAGGG 0.662000 20 53 0 0 1 0 0 EVI5 7813 broad.mit.edu 37 1 92979392 92979392 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:92979392C>T ENST00000370331.1 - 18 2263 c.2254G>A c.(2254-2256)Gaa>Aaa p.E752K EVI5_ENST00000540033.1_Missense_Mutation_p.E752K|EVI5_ENST00000543509.1_Missense_Mutation_p.E763K NM_005665.4 NP_005656.4 O60447 EVI5_HUMAN ecotropic viral integration site 5 752 Interaction with AURKB and INCENP.|Targeting to the centrosomes. cell cycle|cell division|cell proliferation|multicellular organismal development microtubule organizing center|nucleus|spindle protein binding|Rab GTPase activator activity breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1) 38 all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203) Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211) ACACCAGTTTCCTGTAAGGAA 0.428000 17 81 0 0 1 0 0 RLTPR 146206 broad.mit.edu 37 16 67683002 67683002 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr16:67683002C>G ENST00000334583.6 + 18 1943 c.1615C>G c.(1615-1617)Ctg>Gtg p.L539V RLTPR_ENST00000545661.1_Missense_Mutation_p.L503V NM_001013838.1 NP_001013860.1 Q6F5E8 LR16C_HUMAN RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing 539 breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2) 18 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232) CATGGTGACTCTGGTGCTGGC 0.617000 14 25 0 0 1 0 0 COLEC12 81035 broad.mit.edu 37 18 346722 346722 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr18:346722G>A ENST00000400256.3 - 5 1107 c.900C>T c.(898-900)atC>atT p.I300I NM_130386.2 NP_569057 Q5KU26 COL12_HUMAN collectin sub-family member 12 300 carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization collagen|integral to membrane galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 46 all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426) AGATAGTGGTGATGTTCTCCA 0.502000 19 65 0 0 1 0 0 WNK4 65266 broad.mit.edu 37 17 40947953 40947953 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:40947953G>A ENST00000246914.5 + 16 3354 c.3333G>A c.(3331-3333)atG>atA p.M1111I NM_032387.4 NP_115763.2 Q96J92 WNK4_HUMAN WNK lysine deficient protein kinase 4 1111 intracellular protein kinase cascade tight junction ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1) 35 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.0749) CAGTGTGGATGAACTACTCCT 0.587000 24 61 0 0 1 0 0 DOPEY2 9980 broad.mit.edu 37 21 37617591 37617591 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr21:37617591G>C ENST00000399151.3 + 19 3398 c.3313G>C c.(3313-3315)Gac>Cac p.D1105H NM_005128.2 NP_005119.2 Q9Y3R5 DOP2_HUMAN dopey family member 2 1105 endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport Golgi membrane autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 CGGCGCCCCGGACAGCAGCGA 0.647000 21 104 0 0 1 0 0 PREX2 80243 broad.mit.edu 37 8 69039652 69039652 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:69039652C>T ENST00000288368.4 + 31 4041 c.3764C>T c.(3763-3765)tCa>tTa p.S1255L NM_024870.2|NM_025170.4 NP_079146.2|NP_079446.3 Q70Z35 PREX2_HUMAN phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 1255 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2) 178 CTTGAATATTCAGGTAACATT 0.353000 15 55 0 0 1 0 0 EPO 2056 broad.mit.edu 37 7 100320678 100320678 + Silent SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:100320678C>G ENST00000252723.2 + 5 685 c.504C>G c.(502-504)ctC>ctG p.L168L NM_000799.2 NP_000790.2 P01588 EPO_HUMAN erythropoietin 168 blood circulation|cellular hyperosmotic response|erythrocyte maturation|negative regulation of apoptosis|negative regulation of ion transmembrane transporter activity|negative regulation of sodium ion transport|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat5 protein|signal transduction extracellular space erythropoietin receptor binding|eukaryotic cell surface binding|hormone activity central_nervous_system(2)|endometrium(2)|lung(7)|prostate(1) 12 Lung NSC(181;0.041)|all_lung(186;0.0581) Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016) TCCGCAAACTCTTCCGAGTCT 0.567000 57 169 0 0 1 0 0 MBTD1 54799 broad.mit.edu 37 17 49270356 49270356 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:49270356G>A ENST00000586178.1 - 15 1820 c.1477C>T c.(1477-1479)Cgt>Tgt p.R493C MBTD1_ENST00000376381.2_3'UTR|MBTD1_ENST00000415868.1_Missense_Mutation_p.R493C NM_017643.2 NP_060113.2 Q05BQ5 MBTD1_HUMAN mbt domain containing 1 493 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)|urinary_tract(1) 12 BRCA - Breast invasive adenocarcinoma(22;1.54e-08) ATTCCTACACGAAATCCGTGA 0.363000 33 86 0 0 1 0 0 IL31RA 133396 broad.mit.edu 37 5 55206499 55206499 + Splice_Site SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:55206499C>T ENST00000396834.1 + 14 2080 c.1584C>T c.(1582-1584)ttC>ttT p.F528F IL31RA_ENST00000447346.2_Splice_Site_p.F547F|IL31RA_ENST00000490985.1_Splice_Site_p.F405F|IL31RA_ENST00000354961.4_Splice_Site_p.F528F|IL31RA_ENST00000359040.5_Splice_Site_p.F547F NM_001242638.1 NP_001229567.1 Q8NI17 IL31R_HUMAN interleukin 31 receptor A 515 anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway integral to membrane|plasma membrane cytokine receptor activity|protein kinase binding|transcription coactivator activity endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1) 21 Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223) CATTGTCATTCAGTGAGTATT 0.463000 34 106 0 0 1 0 0 MAGI3 260425 broad.mit.edu 37 1 114226163 114226163 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:114226163G>A ENST00000307546.9 + 21 4048 c.3973G>A c.(3973-3975)Gag>Aag p.E1325K MAGI3_ENST00000369615.1_3'UTR NM_001142782.1 NP_001136254.1 Q5TCQ9 MAGI3_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 3 1350 apoptosis|interspecies interaction between organisms|intracellular signal transduction nucleus|tight junction ATP binding|guanylate kinase activity|protein binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 Lung SC(450;0.184) all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CAGTAATGCTGAGCAGATCCC 0.423000 18 52 0 0 1 0 0 AP2B1 163 broad.mit.edu 37 17 33977735 33977735 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:33977735C>T ENST00000262325.7 + 13 2276 c.1723C>T c.(1723-1725)Cat>Tat p.H575Y AP2B1_ENST00000592545.1_Missense_Mutation_p.H537Y|AP2B1_ENST00000538556.1_Missense_Mutation_p.H518Y|AP2B1_ENST00000589344.1_Missense_Mutation_p.H575Y|AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000537622.2_Missense_Mutation_p.H575Y|AP2B1_ENST00000312678.8_Missense_Mutation_p.H575Y NM_001282.2 NP_001273.1 P63010 AP2B1_HUMAN adaptor-related protein complex 2, beta 1 subunit 575 axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane clathrin binding|protein transporter activity NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 28 Ovarian(249;0.17) UCEC - Uterine corpus endometrioid carcinoma (308;0.0227) CTCTGTGTATCATAAGCCTCC 0.463000 46 106 0 0 1 0 0 CCDC88A 55704 broad.mit.edu 37 2 55535955 55535955 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:55535955C>G ENST00000436346.1 - 25 5218 c.4377G>C c.(4375-4377)aaG>aaC p.K1459N CCDC88A_ENST00000422883.2_Missense_Mutation_p.K82N|CCDC88A_ENST00000263630.8_Missense_Mutation_p.K1459N|CCDC88A_ENST00000413716.2_Missense_Mutation_p.K1458N|CCDC88A_ENST00000336838.6_Missense_Mutation_p.K1458N|AC012358.8_ENST00000366287.4_RNA NM_001135597.1|NM_001254943.1 NP_001129069.1|NP_001241872.1 Q3V6T2 GRDN_HUMAN coiled-coil domain containing 88A 1459 activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1) 69 TGCTGCTTTTCTTGGTCCCCA 0.393000 14 30 0 0 1 0 0 MYCBP2 23077 broad.mit.edu 37 13 77736073 77736073 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr13:77736073C>G ENST00000407578.2 - 44 6831 c.6565G>C c.(6565-6567)Gac>Cac p.D2189H MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.D2151H|MYCBP2_ENST00000544440.2_Missense_Mutation_p.D2151H NM_015057.4 NP_055872.4 O75592 MYCB2_HUMAN MYC binding protein 2, E3 ubiquitin protein ligase 2151 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 118 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) ATTTCAAGGTCTTCTTCTAAT 0.294000 11 60 0 0 1 0 0 ADRB2 154 broad.mit.edu 37 5 148206577 148206577 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:148206577C>T ENST00000305988.4 + 1 422 c.183C>T c.(181-183)ttC>ttT p.F61F NM_000024.5 NP_000015 P07550 ADRB2_HUMAN adrenoceptor beta 2, surface 61 activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis endosome|integral to plasma membrane|lysosome|receptor complex beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3) 14 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373) TTGCCAAGTTCGAGCGTCTGC 0.582000 24 75 0 0 1 0 0 GLMN 11146 broad.mit.edu 37 1 92752071 92752071 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:92752071G>A ENST00000370360.3 - 7 792 c.711C>T c.(709-711)ttC>ttT p.F237F GLMN_ENST00000534881.1_Silent_p.F237F NM_053274.2 NP_444504.1 Q92990 GLMN_HUMAN glomulin, FKBP associated protein 237 muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis intracellular hepatocyte growth factor receptor binding endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1) 17 all_lung(203;0.00827)|Lung NSC(277;0.0295) all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989) CAAAATACCTGAAAGGATCAT 0.333000 Multiple Glomus Tumors (of the Skin), Familial 16 38 0 0 1 0 0 COL19A1 1310 broad.mit.edu 37 6 70639408 70639408 + Missense_Mutation SNP G G C rs151153446 byFrequency TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:70639408G>C ENST00000322773.4 + 6 584 c.482G>C c.(481-483)cGa>cCa p.R161P NM_001858.4 NP_001849.2 Q14993 COJA1_HUMAN collagen, type XIX, alpha 1 161 TSP N-terminal. cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development collagen extracellular matrix structural constituent|protein binding, bridging breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2) 109 TTTAGAAATCGAGAACTCCGT 0.378000 19 65 0 0 1 0 0 DENND1C 79958 broad.mit.edu 37 19 6467705 6467705 + Nonsense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:6467705G>C ENST00000381480.2 - 23 2328 c.2216C>G c.(2215-2217)tCa>tGa p.S739* DENND1C_ENST00000543576.1_Nonsense_Mutation_p.S695* NM_024898.2 NP_079174.2 Q8IV53 DEN1C_HUMAN DENN/MADD domain containing 1C 739 clathrin-coated vesicle|cytosol guanyl-nucleotide exchange factor activity endometrium(3)|kidney(3)|large_intestine(1)|lung(3) 10 ACTGGGGTCTGAGGAAGGATC 0.632000 8 29 0 0 1 0 0 ASPSCR1 79058 broad.mit.edu 37 17 79941448 79941448 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:79941448C>T ENST00000306729.7 + 3 274 c.177C>T c.(175-177)ctC>ctT p.L59L ASPSCR1_ENST00000581647.1_Silent_p.L59L|ASPSCR1_ENST00000306739.4_Silent_p.L59L|ASPSCR1_ENST00000580534.1_5'UTR NM_001251888.1 NP_001238817.1 Q9BZE9 ASPC1_HUMAN alveolar soft part sarcoma chromosome region, candidate 1 59 protein binding ASPSCR1/TFE3(167) breast(2)|large_intestine(2) 4 all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246) BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191) GGAGCGTGCTCGACCTTTCTC 0.627000 T TFE3 alveolar soft part sarcoma 9 21 0 0 1 0 0 RYR3 6263 broad.mit.edu 37 15 34061318 34061318 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr15:34061318G>A ENST00000389232.4 + 62 8831 c.8761G>A c.(8761-8763)Gat>Aat p.D2921N RYR3_ENST00000415757.3_Missense_Mutation_p.D2921N NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 2921 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) TCCAGGTAGTGATTCTACTAC 0.438000 24 67 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55537354 55537354 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:55537354G>C ENST00000220676.1 + 4 1060 c.912G>C c.(910-912)aaG>aaC p.K304N NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 304 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) CCTTAGAAAAGAATGATTCTC 0.318000 4 35 0 0 1 0 0 CILP 8483 broad.mit.edu 37 15 65497670 65497670 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr15:65497670C>T ENST00000261883.4 - 5 725 c.559G>A c.(559-561)Gag>Aag p.E187K NM_003613.3 NP_003604 O75339 CILP1_HUMAN cartilage intermediate layer protein, nucleotide pyrophosphohydrolase 187 TSP type-1. negative regulation of insulin-like growth factor receptor signaling pathway extracellular matrix part|extracellular space|proteinaceous extracellular matrix breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1) 55 TCGCTGGCCTCACTGCACAGC 0.617000 33 97 0 0 1 0 0 LRIG1 26018 broad.mit.edu 37 3 66433416 66433416 + Silent SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:66433416G>C ENST00000383703.3 - 16 3015 c.2412C>G c.(2410-2412)gtC>gtG p.V804V LRIG1_ENST00000496559.2_5'UTR|SLC25A26_ENST00000536651.1_Intron|LRIG1_ENST00000273261.3_Silent_p.V827V Q96JA1 LRIG1_HUMAN leucine-rich repeats and immunoglobulin-like domains 1 827 integral to membrane NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1) 42 Lung NSC(201;0.0101) BRCA - Breast invasive adenocarcinoma(55;0.00047) CTGTGTTGGTGACACTGTACT 0.557000 13 51 0 0 1 0 0 CDKAL1 54901 broad.mit.edu 37 6 21201376 21201376 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:21201376G>C ENST00000274695.4 + 15 1586 c.1419G>C c.(1417-1419)aaG>aaC p.K473N CDKAL1_ENST00000476517.1_3'UTR|CDKAL1_ENST00000378624.4_Missense_Mutation_p.K382N|CDKAL1_ENST00000378610.1_Missense_Mutation_p.K473N NM_017774.3 NP_060244.2 Q5VV42 CDKAL_HUMAN CDK5 regulatory subunit associated protein 1-like 1 473 TRAM. RNA modification integral to membrane 4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1) 29 all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227) OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248) TCATGGGGAAGATGGTTGAAG 0.393000 31 109 0 0 1 0 0 KLK5 25818 broad.mit.edu 37 19 51452357 51452357 + Missense_Mutation SNP C C T rs117067639 byFrequency TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:51452357C>T ENST00000336334.3 - 4 702 c.350G>A c.(349-351)cGt>cAt p.R117H KLK5_ENST00000593428.1_Missense_Mutation_p.R117H|KLK5_ENST00000391809.2_Missense_Mutation_p.R117H NM_012427.4 NP_036559 Q9Y337 KLK5_HUMAN kallikrein-related peptidase 5 117 Peptidase S1. epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis extracellular space protein binding|serine-type endopeptidase activity NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1) 15 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888) GTGGCCGAGACGGACTCTGAA 0.592000 29 102 0 0 1 0 0 ACTA1 58 broad.mit.edu 37 1 229567842 229567842 + Missense_Mutation SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:229567842G>T ENST00000366684.3 - 5 809 c.707C>A c.(706-708)tCc>tAc p.S236Y ACTA1_ENST00000366683.2_Missense_Mutation_p.S148Y NM_001100.3 NP_001091.1 P68133 ACTS_HUMAN actin, alpha 1, skeletal muscle 236 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) TTCCAGGGAGGAGGAGGAGGC 0.642000 14 42 1.3612e-06 1.40509e-06 1 1 0 SIX2 10736 broad.mit.edu 37 2 45236023 45236023 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:45236023G>C ENST00000303077.6 - 1 546 c.227C>G c.(226-228)tCg>tGg p.S76W NM_016932.4 NP_058628.3 Q9NPC8 SIX2_HUMAN SIX homeobox 2 76 nucleus sequence-specific DNA binding transcription factor activity endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 22 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) GTTGTGCGGCGAGAACTGGTG 0.627000 30 112 0 0 1 0 0 KHDRBS1 10657 broad.mit.edu 37 1 32508200 32508200 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:32508200G>C ENST00000327300.7 + 9 1474 c.1307G>C c.(1306-1308)aGa>aCa p.R436T KHDRBS1_ENST00000492989.1_Missense_Mutation_p.R397T|KHDRBS1_ENST00000307714.8_3'UTR NM_006559.1 NP_006550.1 Q07666 KHDR1_HUMAN KH domain containing, RNA binding, signal transduction associated 1 436 cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|G2/M transition of mitotic cell cycle|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent membrane|nucleus DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1) 14 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) GGAGCATACAGAGAGCACCCA 0.468000 15 33 0 0 1 0 0 PWWP2B 170394 broad.mit.edu 37 10 134219649 134219649 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:134219649G>A ENST00000305233.5 + 2 1704 c.1645G>A c.(1645-1647)Gaa>Aaa p.E549K PWWP2B_ENST00000368609.4_Intron NM_138499.3 NP_612508.3 Q6NUJ5 PWP2B_HUMAN PWWP domain containing 2B 549 PWWP. central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1) 9 all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224) OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186) CCCTTTCTCTGAATTTTTCAA 0.488000 32 84 0 0 1 0 0 AGL 178 broad.mit.edu 37 1 100357997 100357997 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:100357997G>C ENST00000294724.4 + 24 3571 c.3093G>C c.(3091-3093)caG>caC p.Q1031H AGL_ENST00000361302.3_Missense_Mutation_p.Q1015H|AGL_ENST00000370161.2_Missense_Mutation_p.Q1015H|AGL_ENST00000361915.3_Missense_Mutation_p.Q1031H|AGL_ENST00000370165.3_Missense_Mutation_p.Q1031H|AGL_ENST00000361522.4_Missense_Mutation_p.Q1014H|AGL_ENST00000370163.3_Missense_Mutation_p.Q1031H NM_000028.2 NP_000019.2 P35573 GDE_HUMAN amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase 1031 glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol|isoamylase complex|nucleus 4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1) 69 all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131) Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237) GCTTTGTTCAGAATGGTTCAA 0.348000 9 47 0 0 1 0 0 CYB5D1 124637 broad.mit.edu 37 17 7762898 7762898 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:7762898C>G ENST00000332439.4 + 4 807 c.655C>G c.(655-657)Ctg>Gtg p.L219V CYB5D1_ENST00000571846.1_3'UTR|LSMD1_ENST00000570555.1_Intron|CYB5D1_ENST00000570446.1_Missense_Mutation_p.L91V|LSMD1_ENST00000576861.1_Intron NM_144607.4 NP_653208.2 Q6P9G0 CB5D1_HUMAN cytochrome b5 domain containing 1 219 heme binding breast(1)|endometrium(1)|large_intestine(2)|skin(2) 6 all_cancers(10;0.11)|Prostate(122;0.219) TGCAATACTTCTGTACTTCAA 0.448000 30 80 0 0 1 0 0 RAB9B 51209 broad.mit.edu 37 X 103080330 103080330 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chrX:103080330C>T ENST00000243298.2 - 3 669 c.385G>A c.(385-387)Gag>Aag p.E129K NM_016370.2 NP_057454.1 Q9NP90 RAB9B_HUMAN RAB9B, member RAS oncogene family 129 Golgi to endosome transport|protein transport|small GTPase mediated signal transduction plasma membrane GTP binding|protein binding endometrium(1)|kidney(1)|large_intestine(1)|lung(11) 14 TGCCTATCCTCTTTGTCTACC 0.433000 94 87 0 0 1 0 0 LAPTM5 7805 broad.mit.edu 37 1 31210457 31210457 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:31210457G>C ENST00000294507.3 - 6 674 c.600C>G c.(598-600)atC>atG p.I200M NM_006762.2 NP_006753.1 Q13571 LAPM5_HUMAN lysosomal protein transmembrane 5 200 transport integral to plasma membrane|lysosomal membrane large_intestine(2)|lung(7)|skin(1) 10 Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192) STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649) TCACCTTGAAGATAAGGACAG 0.542000 26 57 0 0 1 0 0 C11orf82 220042 broad.mit.edu 37 11 82644076 82644076 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:82644076G>A ENST00000533655.1 + 6 1908 c.1696G>A c.(1696-1698)Gag>Aag p.E566K C11orf82_ENST00000329143.3_Missense_Mutation_p.E265K|C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000430323.2_Missense_Mutation_p.E566K NM_145018.3 NP_659455.3 Q8IXT1 NOXIN_HUMAN chromosome 11 open reading frame 82 566 apoptosis|cell cycle arrest cytoplasm|nucleus haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 33 ACCACACAGGGAGAGTGACCA 0.338000 13 19 0 0 1 0 0 MDFIC 29969 broad.mit.edu 37 7 114655760 114655760 + Missense_Mutation SNP T T C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:114655760T>C ENST00000393486.1 + 5 1102 c.512T>C c.(511-513)aTc>aCc p.I171T MDFIC_ENST00000257724.3_Missense_Mutation_p.I280T NM_001166345.1|NM_199072.4 NP_001159817.1|NP_951038.1 Q9P1T7 MDFIC_HUMAN MyoD family inhibitor domain containing 171 Cys-rich. activation of JUN kinase activity|interspecies interaction between organisms|negative regulation of protein import into nucleus|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|regulation of Wnt receptor signaling pathway|transcription, DNA-dependent cytoplasm|nucleolus|nucleus cyclin binding|Tat protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1) 8 GTCCACTGTATCCTGGCTTGC 0.443000 92 317 0 0 1 0 0 KCNE2 9992 broad.mit.edu 37 21 35743045 35743045 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr21:35743045G>C ENST00000290310.3 + 2 408 c.268G>C c.(268-270)Gag>Cag p.E90Q NM_172201.1 NP_751951.1 Q9Y6J6 KCNE2_HUMAN potassium voltage-gated channel, Isk-related family, member 2 blood circulation|muscle contraction|regulation of heart contraction lysosome|voltage-gated potassium channel complex voltage-gated potassium channel activity endometrium(1)|large_intestine(1) 2 GTACATTGTAGAGGACTGGCA 0.483000 14 39 0 0 1 0 0 MTM1 4534 broad.mit.edu 37 X 149807437 149807437 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chrX:149807437G>A ENST00000370396.2 + 7 520 c.466G>A c.(466-468)Gaa>Aaa p.E156K MTM1_ENST00000542741.1_Missense_Mutation_p.E61K|MTM1_ENST00000543350.1_Missense_Mutation_p.E41K|MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000413012.2_Missense_Mutation_p.E119K NM_000252.2 NP_000243.1 Q13496 MTM1_HUMAN myotubularin 1 156 endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization filopodium|late endosome|plasma membrane|ruffle intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Acute lymphoblastic leukemia(192;6.56e-05) ATTTTTAAATGAAGAAAAGTT 0.348000 23 27 0 0 1 0 0 PBRM1 55193 broad.mit.edu 37 3 52621527 52621527 + Splice_Site SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:52621527C>G ENST00000356770.4 - 18 2872 c.e18-1 PBRM1_ENST00000394830.3_Intron|PBRM1_ENST00000296302.7_Splice_Site|PBRM1_ENST00000337303.4_Splice_Site|PBRM1_ENST00000409767.1_Splice_Site|PBRM1_ENST00000409057.1_Splice_Site|PBRM1_ENST00000409114.3_Splice_Site|PBRM1_ENST00000410007.1_Intron Q86U86 PB1_HUMAN polybromo 1 chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear chromosome chromatin binding|DNA binding|protein binding p.?(3) breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1) 335 BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) CATTTTTCACCTCAAAAATGG 0.363000 """Mis, N, F, S, D, O""" """clear cell renal carcinoma, breast""" 13 57 0 0 1 0 0 SLC14A1 6563 broad.mit.edu 37 18 43319255 43319255 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr18:43319255C>T ENST00000321925.4 + 7 1023 c.791C>T c.(790-792)tCa>tTa p.S264L SLC14A1_ENST00000402943.2_Missense_Mutation_p.S159L|SLC14A1_ENST00000589700.1_Intron|SLC14A1_ENST00000415427.3_Missense_Mutation_p.S320L|RP11-116O18.3_ENST00000586213.1_RNA|SLC14A1_ENST00000502059.2_Missense_Mutation_p.S156L|RP11-116O18.3_ENST00000589510.1_RNA|SLC14A1_ENST00000436407.3_Missense_Mutation_p.S320L|SLC14A1_ENST00000535474.1_Missense_Mutation_p.S132L|SLC14A1_ENST00000586142.1_Missense_Mutation_p.S264L NM_001128588.3|NM_001146036.2|NM_015865.6 NP_001122060.3|NP_001139508.2|NP_056949.4 Q13336 UT1_HUMAN solute carrier family 14 (urea transporter), member 1 264 integral to plasma membrane urea transmembrane transporter activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 21 GCCATAGGATCATTGCTGGGC 0.537000 27 81 0 0 1 0 0 TPT1 7178 broad.mit.edu 37 13 45914250 45914250 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr13:45914250C>G ENST00000379056.1 - 2 240 c.70G>C c.(70-72)Gag>Cag p.E24Q TPT1_ENST00000379060.4_Missense_Mutation_p.E46Q|RP11-290D2.6_ENST00000610057.1_RNA|TPT1_ENST00000530705.1_Missense_Mutation_p.E58Q|TPT1_ENST00000309246.5_Missense_Mutation_p.E58Q|TPT1_ENST00000529421.1_5'UTR|TPT1_ENST00000379055.1_Missense_Mutation_p.E24Q P13693 TCTP_HUMAN tumor protein, translationally-controlled 1 58 anti-apoptosis|response to virus extracellular space|multivesicular body calcium ion binding|protein binding lung(1) 1 Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000232) CCTTCGCCCTCGGGGCCTTCA 0.448000 22 81 0 0 1 0 0 GNRHR 2798 broad.mit.edu 37 4 68619556 68619556 + Silent SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr4:68619556G>T ENST00000226413.4 - 1 522 c.498C>A c.(496-498)ctC>ctA p.L166L GNRHR_ENST00000420975.2_Silent_p.L166L|UBA6-AS1_ENST00000500538.2_RNA|UBA6-AS1_ENST00000502758.1_RNA NM_000406.2 NP_000397.1 P30968 GNRHR_HUMAN gonadotropin-releasing hormone receptor 166 multicellular organismal development integral to plasma membrane gonadotropin-releasing hormone receptor activity endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1) 13 Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666) AGACACTACTGAGGATCCAGG 0.463000 9 29 1.12685e-05 1.14989e-05 1 1 0 ZBED4 9889 broad.mit.edu 37 22 50277808 50277808 + Silent SNP G G A rs141158718 TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr22:50277808G>A ENST00000216268.5 + 2 975 c.498G>A c.(496-498)ccG>ccA p.P166P NM_014838.2 NP_055653.2 O75132 ZBED4_HUMAN zinc finger, BED-type containing 4 cytoplasm|nucleus DNA binding|metal ion binding|protein dimerization activity breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1) 44 all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164) UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247) GCGCACACCCGACCGTGCTCA 0.557000 21 72 0 0 1 0 0 ESD 2098 broad.mit.edu 37 13 47356852 47356852 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr13:47356852C>T ENST00000378720.3 - 6 513 c.331G>A c.(331-333)Gaa>Aaa p.E111K ESD_ENST00000378697.1_Missense_Mutation_p.E82K|ESD_ENST00000495654.1_5'UTR NM_001984.1 NP_001975.1 P10768 ESTD_HUMAN esterase D 111 cytoplasmic membrane-bounded vesicle carboxylesterase activity|S-formylglutathione hydrolase activity endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1) 9 all_lung(13;3.54e-08)|Lung NSC(96;9.1e-06)|Breast(56;0.000148)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556) GBM - Glioblastoma multiforme(144;2.66e-05) Glutathione(DB00143) CAAGGATCTTCAGTGGCATCA 0.378000 18 75 0 0 1 0 0 PFDN2 5202 broad.mit.edu 37 1 161071873 161071873 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:161071873C>G ENST00000368010.3 - 3 337 c.253G>C c.(253-255)Gag>Cag p.E85Q PFDN2_ENST00000468311.1_Intron NM_012394.3 NP_036526.2 Q9UHV9 PFD2_HUMAN prefoldin subunit 2 85 'de novo' posttranslational protein folding prefoldin complex unfolded protein binding lung(1)|skin(1) 2 all_cancers(52;1.84e-19)|Breast(13;0.00188)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) GGCAGCACCTCTTTGACAGTT 0.517000 19 49 0 0 1 0 0 TANC1 85461 broad.mit.edu 37 2 160050867 160050867 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:160050867G>A ENST00000263635.6 + 17 3079 c.2842G>A c.(2842-2844)Gag>Aag p.E948K TANC1_ENST00000454300.1_Missense_Mutation_p.E842K NM_001145909.1|NM_033394.2 NP_001139381.1|NP_203752.2 Q9C0D5 TANC1_HUMAN tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 948 cell junction|postsynaptic density|postsynaptic membrane binding breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 77 CCTTGGCCACGAGGAAGTTGT 0.557000 23 75 0 0 1 0 0 RLTPR 146206 broad.mit.edu 37 16 67681650 67681650 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr16:67681650G>C ENST00000334583.6 + 12 1267 c.939G>C c.(937-939)caG>caC p.Q313H RLTPR_ENST00000545661.1_Missense_Mutation_p.Q313H NM_001013838.1 NP_001013860.1 Q6F5E8 LR16C_HUMAN RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing 313 breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2) 18 Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232) GCCTGGCCCAGACAGGGTTGA 0.657000 4 12 0 0 1 0 0 ACTR6 64431 broad.mit.edu 37 12 100612202 100612202 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:100612202G>A ENST00000188312.2 + 9 1525 c.760G>A c.(760-762)Gag>Aag p.E254K ACTR6_ENST00000546902.1_Missense_Mutation_p.E172K|ACTR6_ENST00000552376.1_Missense_Mutation_p.E254K|ACTR6_ENST00000551617.1_Missense_Mutation_p.E172K NM_022496.4 NP_071941.1 Q9GZN1 ARP6_HUMAN ARP6 actin-related protein 6 homolog (yeast) 254 cytoplasm|cytoskeleton autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(1) 14 GCCAAGGGAAGAGATGGTGTT 0.313000 7 55 0 0 1 0 0 FARP1 10160 broad.mit.edu 37 13 99037049 99037049 + Nonsense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr13:99037049C>T ENST00000376586.2 + 7 898 c.562C>T c.(562-564)Cag>Tag p.Q188* FARP1_ENST00000319562.6_Nonsense_Mutation_p.Q188*|FARP1_ENST00000595437.1_Nonsense_Mutation_p.Q188* Q9Y4F1 FARP1_HUMAN FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) 188 FERM. regulation of Rho protein signal transduction cytoplasm|cytoskeleton|extrinsic to membrane cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1) 49 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.233) ATACATACCTCAGCAAGACGC 0.418000 8 37 0 0 1 0 0 PTPN9 5780 broad.mit.edu 37 15 75798209 75798209 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr15:75798209C>T ENST00000306726.2 - 7 1287 c.775G>A c.(775-777)Gat>Aat p.D259N NM_002833.2 NP_002824.1 P43378 PTN9_HUMAN protein tyrosine phosphatase, non-receptor type 9 259 cytoplasmic part non-membrane spanning protein tyrosine phosphatase activity|protein binding central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 TCGAAGGGATCTGGGTGGCCG 0.532000 18 54 0 0 1 0 0 USP7 7874 broad.mit.edu 37 16 8997182 8997182 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr16:8997182G>C ENST00000344836.4 - 16 1980 c.1782C>G c.(1780-1782)ttC>ttG p.F594L USP7_ENST00000535863.1_Missense_Mutation_p.F495L|USP7_ENST00000381886.4_Missense_Mutation_p.F578L NM_003470.2 NP_003461.2 Q93009 UBP7_HUMAN ubiquitin specific peptidase 7 (herpes virus-associated) 594 interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process cytoplasm|PML body cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1) 48 TCAATACTTTGAACACAGTGT 0.473000 14 57 0 0 1 0 0 NYAP1 222950 broad.mit.edu 37 7 100086600 100086600 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:100086600G>A ENST00000423930.1 + 4 1415 c.1256G>A c.(1255-1257)cGg>cAg p.R419Q NYAP1_ENST00000300179.2_Missense_Mutation_p.R419Q|NYAP1_ENST00000454988.1_Missense_Mutation_p.R362Q Q6ZVC0 CG051_HUMAN neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 419 Pro-rich. GGCCAGCCCCGGGGGGAGCGG 0.766000 6 31 0 0 1 0 0 C10orf76 79591 broad.mit.edu 37 10 103607320 103607320 + Nonsense_Mutation SNP C C A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:103607320C>A ENST00000370033.4 - 26 2154 c.2035G>T c.(2035-2037)Gaa>Taa p.E679* C10orf76_ENST00000495001.1_5'UTR NM_024541.2 NP_078817.2 Q5T2E6 CJ076_HUMAN chromosome 10 open reading frame 76 679 integral to membrane autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2) 24 Colorectal(252;0.123) Epithelial(162;2.41e-08)|all cancers(201;6.41e-07) AGCAGGACTTCTTGGCTGAGT 0.592000 25 83 1.06801e-11 1.12016e-11 1 1 0 PDE9A 5152 broad.mit.edu 37 21 44192610 44192610 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr21:44192610G>C ENST00000291539.6 + 19 1808 c.1748G>C c.(1747-1749)aGa>aCa p.R583T PDE9A_ENST00000398234.3_Missense_Mutation_p.R482T|PDE9A_ENST00000335440.6_Missense_Mutation_p.R481T|PDE9A_ENST00000380328.2_Missense_Mutation_p.R530T|PDE9A_ENST00000398227.3_Missense_Mutation_p.R423T|PDE9A_ENST00000398236.3_Missense_Mutation_p.R497T|PDE9A_ENST00000398224.3_Missense_Mutation_p.R456T|PDE9A_ENST00000349112.3_Missense_Mutation_p.R455T|PDE9A_ENST00000335512.4_Missense_Mutation_p.R523T|PDE9A_ENST00000398229.3_Missense_Mutation_p.R449T|PDE9A_ENST00000398225.3_Missense_Mutation_p.R542T|PDE9A_ENST00000539837.1_Missense_Mutation_p.R455T|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000398232.3_Missense_Mutation_p.R516T|PDE9A_ENST00000328862.6_Missense_Mutation_p.R557T NM_002606.2 NP_002597.1 O76083 PDE9A_HUMAN phosphodiesterase 9A 583 platelet activation|signal transduction cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 27 GAGAGAAGCAGAGATGTGAAA 0.498000 6 15 0 0 1 0 0 PRDX2 7001 broad.mit.edu 37 19 12911749 12911749 + Nonsense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:12911749G>A ENST00000301522.2 - 3 366 c.238C>T c.(238-240)Cag>Tag p.Q80* PRDX2_ENST00000334482.5_Nonsense_Mutation_p.Q80*|CTD-2659N19.10_ENST00000585496.1_RNA|PRDX2_ENST00000435703.1_Nonsense_Mutation_p.Q80* NM_005809.4 NP_005800.3 P32119 PRDX2_HUMAN peroxiredoxin 2 80 Thioredoxin. anti-apoptosis|cell redox homeostasis|hydrogen peroxide catabolic process|removal of superoxide radicals thioredoxin peroxidase activity endometrium(1)|large_intestine(1)|lung(1)|prostate(1) 4 TGGGTGAACTGAGAGTCCACC 0.587000 5 24 0 0 1 0 0 RPH3A 22895 broad.mit.edu 37 12 113304639 113304639 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:113304639G>A ENST00000389385.4 + 7 935 c.438G>A c.(436-438)caG>caA p.Q146Q RPH3A_ENST00000548866.1_Silent_p.Q97Q|RPH3A_ENST00000447659.2_Silent_p.Q97Q|RPH3A_ENST00000415485.3_Silent_p.Q146Q|RPH3A_ENST00000420983.2_Silent_p.Q146Q|RPH3A_ENST00000551052.1_Silent_p.Q142Q|RPH3A_ENST00000543106.2_Silent_p.Q146Q NM_001143854.1|NM_014954.3 NP_001137326.1|NP_055769.2 Q9Y2J0 RP3A_HUMAN rabphilin 3A homolog (mouse) 146 RabBD. intracellular protein transport cell junction|synaptic vesicle Rab GTPase binding|transporter activity|zinc ion binding breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1) 47 BRCA - Breast invasive adenocarcinoma(302;0.00453) GCATTGAGCAGAGGGAGGTGA 0.537000 9 17 0 0 1 0 0 OR1M1 125963 broad.mit.edu 37 19 9204520 9204520 + Silent SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:9204520C>G ENST00000429566.3 + 1 666 c.600C>G c.(598-600)ctC>ctG p.L200L NM_001004456.1 NP_001004456.1 Q8NGA1 OR1M1_HUMAN olfactory receptor, family 1, subfamily M, member 1 200 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 TCTTCATCCTCATTGTGGCAG 0.567000 31 138 0 0 1 0 0 NDUFA7 4701 broad.mit.edu 37 19 8381530 8381530 + Splice_Site SNP C C A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:8381530C>A ENST00000301457.2 - 3 139 c.e3-1 NDUFA7_ENST00000598884.1_Splice_Site NM_005001.3 NP_004992.2 O95182 NDUA7_HUMAN NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7, 14.5kDa mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity NS(1)|central_nervous_system(1)|lung(2)|ovary(1) 5 NADH(DB00157) AGGCTGAGTTCTGAGGGGAAA 0.562000 24 92 7.33532e-06 7.51693e-06 1 1 0 MKI67 4288 broad.mit.edu 37 10 129904353 129904353 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:129904353G>A ENST00000368654.3 - 13 6126 c.5751C>T c.(5749-5751)atC>atT p.I1917I MKI67_ENST00000368653.3_Silent_p.I1557I NM_002417.4 NP_002408.3 P46013 KI67_HUMAN marker of proliferation Ki-67 1917 16 X 122 AA approximate repeats. cell proliferation nucleolus ATP binding|protein C-terminus binding NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4) 159 all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203) CAAATGTGTTGATGTCTTTCT 0.478000 64 200 0 0 1 0 0 GCN1L1 10985 broad.mit.edu 37 12 120575013 120575013 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:120575013C>T ENST00000300648.6 - 50 6786 c.6774G>A c.(6772-6774)aaG>aaA p.K2258K NM_006836.1 NP_006827 Q92616 GCN1L_HUMAN GCN1 general control of amino-acid synthesis 1-like 1 (yeast) 2258 regulation of translation ribosome protein binding|translation factor activity, nucleic acid binding NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 94 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GGCTTACCTTCTTCGGGAGGC 0.607000 32 104 0 0 1 0 0 CDH24 64403 broad.mit.edu 37 14 23524350 23524350 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:23524350G>A ENST00000397359.3 - 3 673 c.414C>T c.(412-414)atC>atT p.I138I CDH24_ENST00000267383.5_Silent_p.I138I|CDH24_ENST00000554034.1_Silent_p.I138I|CDH24_ENST00000487137.2_Silent_p.I138I NM_022478.3 NP_071923.2 Q86UP0 CAD24_HUMAN cadherin 24, type 2 138 Cadherin 1. adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion cell-cell junction|integral to membrane alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 26 all_cancers(95;3.3e-05) GBM - Glioblastoma multiforme(265;0.00654) CTTGCACTTTGATGATGAACT 0.587000 OREG0022594 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 39 136 0 0 1 0 0 ZIM3 114026 broad.mit.edu 37 19 57646567 57646567 + Nonsense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:57646567G>A ENST00000269834.1 - 5 1523 c.1138C>T c.(1138-1140)Caa>Taa p.Q380* NM_052882.1 NP_443114.1 Q96PE6 ZIM3_HUMAN zinc finger, imprinted 3 380 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1) 52 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TTTTTATGTTGAATGAGGTTT 0.373000 27 97 0 0 1 0 0 GLMN 11146 broad.mit.edu 37 1 92752143 92752143 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:92752143G>A ENST00000370360.3 - 7 720 c.639C>T c.(637-639)ttC>ttT p.F213F GLMN_ENST00000534881.1_Silent_p.F213F NM_053274.2 NP_444504.1 Q92990 GLMN_HUMAN glomulin, FKBP associated protein 213 muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis intracellular hepatocyte growth factor receptor binding endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1) 17 all_lung(203;0.00827)|Lung NSC(277;0.0295) all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989) TCAAGCTTTTGAAACAACTAA 0.318000 Multiple Glomus Tumors (of the Skin), Familial 14 40 0 0 1 0 0 LNX1 84708 broad.mit.edu 37 4 54424120 54424120 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr4:54424120G>A ENST00000306888.2 - 1 264 c.13C>T c.(13-15)Ctg>Ttg p.L5L LNX1_ENST00000263925.7_Intron|FIP1L1_ENST00000507166.1_Intron NM_032622.2 NP_116011.2 Q8TBB1 LNX1_HUMAN ligand of numb-protein X 1, E3 ubiquitin protein ligase 101 cytoplasm zinc ion binding autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4) 32 all_neural(26;0.153) GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134) ACCAGCAACAGAAGCGCCTTC 0.537000 13 45 0 0 1 0 0 TRPM1 4308 broad.mit.edu 37 15 31360134 31360134 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr15:31360134G>A ENST00000542188.1 - 4 805 c.492C>T c.(490-492)atC>atT p.I164I TRPM1_ENST00000256552.6_Silent_p.I147I|TRPM1_ENST00000397795.2_Silent_p.I125I NM_001252020.1 NP_001238949.1 Q7Z4N2 TRPM1_HUMAN transient receptor potential cation channel, subfamily M, member 1 125 cellular response to light stimulus|visual perception integral to plasma membrane calcium channel activity|receptor activity NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3) 99 all_lung(180;1.92e-11) all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199) TAGCAGCCTTGATCAGGCCTT 0.547000 38 131 0 0 1 0 0 SPIDR 23514 broad.mit.edu 37 8 48309060 48309060 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:48309060G>C ENST00000297423.4 + 6 1034 c.650G>C c.(649-651)aGa>aCa p.R217T SPIDR_ENST00000518074.1_Missense_Mutation_p.R157T|SPIDR_ENST00000541342.1_Missense_Mutation_p.R147T|SPIDR_ENST00000521214.1_3'UTR NM_001080394.2|NM_001282916.1 NP_001073863.1|NP_001269845.1 scaffolding protein involved in DNA repair TCGGATGCAAGACAGATTATG 0.408000 33 87 0 0 1 0 0 ATP13A2 23400 broad.mit.edu 37 1 17328531 17328531 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:17328531C>T ENST00000452699.1 - 8 877 c.688G>A c.(688-690)Gag>Aag p.E230K RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000326735.8_Missense_Mutation_p.E235K|ATP13A2_ENST00000341676.5_Missense_Mutation_p.E230K NM_001141973.1|NM_022089.2 NP_001135445.1|NP_071372.1 Q9NQ11 AT132_HUMAN ATPase type 13A2 235 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182) AGCCCTACCTCGTCCACCAGC 0.627000 11 24 0 0 1 0 0 CCNT1 904 broad.mit.edu 37 12 49087241 49087241 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:49087241C>G ENST00000261900.3 - 9 1978 c.1756G>C c.(1756-1758)Gat>Cat p.D586H NM_001240.3 NP_001231.2 O60563 CCNT1_HUMAN cyclin T1 586 Ser-rich. cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction nucleoplasm DNA binding|protein kinase binding breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2) 27 GCTGGATGATCAAACACAGCC 0.453000 21 61 0 0 1 0 0 GNB5 10681 broad.mit.edu 37 15 52416714 52416714 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr15:52416714C>T ENST00000261837.7 - 12 1197 c.1132G>A c.(1132-1134)Gat>Aat p.D378N GNB5_ENST00000396335.4_Missense_Mutation_p.D266N|GNB5_ENST00000559348.1_5'UTR|GNB5_ENST00000358784.7_Missense_Mutation_p.D336N NM_016194.3 NP_057278.2 O14775 GBB5_HUMAN guanine nucleotide binding protein (G protein), beta 5 378 heterotrimeric G-protein complex GTPase activity|signal transducer activity large_intestine(1)|lung(1) 2 all cancers(107;0.0163) GCAGTCCCATCGGGGGAAACT 0.498000 18 65 0 0 1 0 0 TTC14 151613 broad.mit.edu 37 3 180322650 180322650 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:180322650G>A ENST00000412756.2 + 6 781 c.712G>A c.(712-714)Gag>Aag p.E238K TTC14_ENST00000296015.4_Missense_Mutation_p.E238K|TTC14_ENST00000382584.4_Missense_Mutation_p.E238K NM_001042601.2 NP_001036066.1 Q96N46 TTC14_HUMAN tetratricopeptide repeat domain 14 238 RNA binding endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1) 45 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) GAGAAGTGTTGAGCTAAATAG 0.303000 4 26 0 0 1 0 0 HEATR5A 25938 broad.mit.edu 37 14 31849763 31849763 + Missense_Mutation SNP C C A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:31849763C>A ENST00000543095.2 - 11 1802 c.1618G>T c.(1618-1620)Gat>Tat p.D540Y HEATR5A_ENST00000439348.1_Missense_Mutation_p.D534Y|HEATR5A_ENST00000389961.3_Missense_Mutation_p.D534Y|HEATR5A_ENST00000404677.3_Missense_Mutation_p.D540Y|HEATR5A_ENST00000439727.1_Missense_Mutation_p.D247Y NM_015473.3 NP_056288.2 Q86XA9 HTR5A_HUMAN HEAT repeat containing 5A 534 binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1) 26 Hepatocellular(127;0.0877)|Breast(36;0.137) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.0059) CACAGCAAATCCTCTGCTAAT 0.358000 6 17 2.0095e-06 2.07176e-06 1 1 0 GTF3C4 9329 broad.mit.edu 37 9 135553634 135553634 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:135553634G>C ENST00000372146.4 + 2 1192 c.628G>C c.(628-630)Gag>Cag p.E210Q GTF3C4_ENST00000483873.2_Intron NM_012204.2 NP_036336.2 Q9UKN8 TF3C4_HUMAN general transcription factor IIIC, polypeptide 4, 90kDa 210 transcription initiation from RNA polymerase III promoter transcription factor TFIIIC complex DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1) 20 OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05) TGACCTGACTGAGATCTATGG 0.507000 19 66 0 0 1 0 0 RBBP4 5928 broad.mit.edu 37 1 33138099 33138099 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:33138099G>A ENST00000373493.5 + 9 1174 c.1015G>A c.(1015-1017)Gat>Aat p.D339N RBBP4_ENST00000373485.1_Missense_Mutation_p.D339N|RBBP4_ENST00000458695.2_Missense_Mutation_p.D304N|RBBP4_ENST00000414241.3_Missense_Mutation_p.D338N|RBBP4_ENST00000544435.1_Missense_Mutation_p.D87N NM_001135255.1|NM_005610.2 NP_001128727.1|NP_005601.1 Q09028 RBBP4_HUMAN retinoblastoma binding protein 4 339 cell cycle|CenH3-containing nucleosome assembly at centromere|DNA replication|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent CAF-1 complex|ESC/E(Z) complex|NuRD complex|NURF complex|Sin3 complex histone binding|histone deacetylase binding breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1) 15 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837) CAGTGGTACTGATCGCAGACT 0.358000 16 22 0 0 1 0 0 PRKAG1 5571 broad.mit.edu 37 12 49406883 49406883 + Nonsense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:49406883G>C ENST00000548065.1 - 2 476 c.20C>G c.(19-21)tCa>tGa p.S7* RP11-386G11.5_ENST00000547866.1_RNA|RP11-386G11.5_ENST00000552284.1_RNA|PRKAG1_ENST00000547306.1_5'UTR|RP11-386G11.5_ENST00000552933.1_RNA|PRKAG1_ENST00000552212.1_5'UTR|PRKAG1_ENST00000395170.3_5'UTR|PRKAG1_ENST00000316299.5_Nonsense_Mutation_p.S7*|RP11-386G11.5_ENST00000547395.1_RNA P54619 AAKG1_HUMAN protein kinase, AMP-activated, gamma 1 non-catalytic subunit 7 cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|positive regulation of protein kinase activity|regulation of fatty acid oxidation|regulation of glycolysis|spermatogenesis cytosol cAMP-dependent protein kinase activity|cAMP-dependent protein kinase regulator activity|protein kinase binding cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 9 GGAGCTATCTGAAGAAATGAC 0.423000 10 48 0 0 1 0 0 CPS1 1373 broad.mit.edu 37 2 211513244 211513244 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:211513244G>C ENST00000233072.5 + 27 3580 c.3384G>C c.(3382-3384)ttG>ttC p.L1128F CPS1_ENST00000430249.2_Missense_Mutation_p.L1134F|CPS1_ENST00000451903.2_Missense_Mutation_p.L677F NM_001875.4 NP_001866.2 P31327 CPSM_HUMAN carbamoyl-phosphate synthase 1, mitochondrial 1128 ATP-grasp 2. carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 142 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) CCTGCTTGTTGAGGCCTTCCT 0.333000 21 79 0 0 1 0 0 SETD8 387893 broad.mit.edu 37 12 123889520 123889520 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:123889520C>T ENST00000402868.3 + 7 1173 c.747C>T c.(745-747)ctC>ctT p.L249L SETD8_ENST00000330479.4_Silent_p.L249L Q9NQR1 SETD8_HUMAN SET domain containing (lysine methyltransferase) 8 290 cell division|mitosis|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent chromosome|nucleus histone-lysine N-methyltransferase activity|p53 binding|transcription corepressor activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|urinary_tract(1) 13 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.00101)|Epithelial(86;0.00425) ACGGGGACCTCATCGAGATCA 0.537000 17 65 0 0 1 0 0 ADAM29 11086 broad.mit.edu 37 4 175898316 175898316 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr4:175898316C>T ENST00000359240.3 + 5 2310 c.1640C>T c.(1639-1641)tCa>tTa p.S547L ADAM29_ENST00000514159.1_Missense_Mutation_p.S547L|ADAM29_ENST00000404450.4_Missense_Mutation_p.S547L|ADAM29_ENST00000445694.1_Missense_Mutation_p.S547L NM_001278125.1|NM_014269.4 NP_001265054.1|NP_055084.3 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 547 Cys-rich. proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2) 93 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) TGTAATATCTCAGATGTCCAG 0.388000 32 109 0 0 1 0 0 FYB 2533 broad.mit.edu 37 5 39202544 39202544 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:39202544C>G ENST00000351578.6 - 2 709 c.519G>C c.(517-519)ttG>ttC p.L173F FYB_ENST00000512982.1_Missense_Mutation_p.L173F|FYB_ENST00000540520.1_Missense_Mutation_p.L183F|FYB_ENST00000515010.1_Missense_Mutation_p.L173F|FYB_ENST00000505428.1_Missense_Mutation_p.L173F NM_199335.3 NP_955367.1 O15117 FYB_HUMAN FYN binding protein 173 cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway cytosol|nucleus protein binding endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1) 45 all_lung(31;0.000343) Epithelial(62;0.235) TAACCCCAGTCAATTTGGGAA 0.498000 28 101 0 0 1 0 0 MICAL2 9645 broad.mit.edu 37 11 12245000 12245000 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:12245000C>T ENST00000256194.4 + 12 1780 c.1492C>T c.(1492-1494)Ctc>Ttc p.L498F MICAL2_ENST00000537344.1_Missense_Mutation_p.L498F|MICAL2_ENST00000527546.1_Missense_Mutation_p.L498F|MICAL2_ENST00000342902.5_Missense_Mutation_p.L498F|MICAL2_ENST00000379612.3_Missense_Mutation_p.L498F NM_001282663.1|NM_014632.2 NP_001269592.1|NP_055447.1 O94851 MICA2_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 2 498 cytoplasm|cytoskeleton monooxygenase activity|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 47 Epithelial(150;0.00552) GCACTACCCTCTCGAGAGACT 0.562000 28 121 0 0 1 0 0 CEP192 55125 broad.mit.edu 37 18 13059091 13059091 + Nonsense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr18:13059091C>G ENST00000506447.1 + 21 4348 c.4268C>G c.(4267-4269)tCa>tGa p.S1423* CEP192_ENST00000325971.8_Nonsense_Mutation_p.S827*|CEP192_ENST00000430049.2_Nonsense_Mutation_p.S948* NM_032142.3 NP_115518.3 B7ZMF0 B7ZMF0_HUMAN centrosomal protein 192kDa 1018 NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 GTGGATCTTTCAACATATCGT 0.358000 21 58 0 0 1 0 0 TCP11L2 255394 broad.mit.edu 37 12 106729964 106729964 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:106729964C>G ENST00000299045.3 + 8 1289 c.1115C>G c.(1114-1116)gCt>gGt p.A372G NM_152772.1 NP_689985.1 Q8N4U5 T11L2_HUMAN t-complex 11, testis-specific-like 2 372 endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2) 15 AGGATTTCAGCTGTTCTACTT 0.433000 14 46 0 0 1 0 0 B3GNT5 84002 broad.mit.edu 37 3 182987774 182987774 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:182987774C>T ENST00000326505.3 + 2 718 c.188C>T c.(187-189)tCt>tTt p.S63F MCF2L2_ENST00000447025.2_Intron|B3GNT5_ENST00000465010.1_Missense_Mutation_p.S63F|B3GNT5_ENST00000460419.1_Missense_Mutation_p.S63F|MCF2L2_ENST00000328913.3_Intron|MCF2L2_ENST00000473233.1_Intron NM_032047.4 NP_114436.1 Q9BYG0 B3GN5_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5 63 central nervous system development|glycolipid biosynthetic process|protein glycosylation Golgi membrane|integral to membrane beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity p.S63C(1) endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1) 8 all_cancers(143;8.52e-13)|Ovarian(172;0.0355) all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21) GATACCCTGTCTCTTAAGCAC 0.393000 24 83 0 0 1 0 0 ZNF283 284349 broad.mit.edu 37 19 44351774 44351774 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:44351774C>T ENST00000324461.7 + 7 1318 c.1021C>T c.(1021-1023)Cat>Tat p.H341Y ZNF283_ENST00000588797.1_Missense_Mutation_p.H202Y NM_181845.1 NP_862828.1 Q8N7M2 ZN283_HUMAN zinc finger protein 283 341 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(3)|lung(4) 8 Prostate(69;0.0352) TGAGATAATTCATACAGGTGA 0.393000 19 49 0 0 1 0 0 MBTPS1 8720 broad.mit.edu 37 16 84129320 84129320 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr16:84129320G>C ENST00000343411.3 - 4 1007 c.512C>G c.(511-513)tCt>tGt p.S171C NM_003791.2 NP_003782.1 Q14703 MBTP1_HUMAN membrane-bound transcription factor peptidase, site 1 171 cholesterol metabolic process|proteolysis endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane serine-type endopeptidase activity NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 CCAGAAGCCAGAGCCCAGGGA 0.617000 32 128 0 0 1 0 0 GLT6D1 360203 broad.mit.edu 37 9 138516451 138516451 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:138516451C>T ENST00000371763.1 - 5 576 c.323G>A c.(322-324)cGa>cAa p.R108Q NM_182974.2 NP_892019.2 Q7Z4J2 GL6D1_HUMAN glycosyltransferase 6 domain containing 1 108 carbohydrate metabolic process integral to membrane transferase activity, transferring hexosyl groups endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 15 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05) GAAGATCACTCGGTAGCCTGT 0.493000 21 63 0 0 1 0 0 MAGEL2 54551 broad.mit.edu 37 15 23889330 23889330 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr15:23889330C>T ENST00000532292.1 - 1 1845 c.1751G>A c.(1750-1752)cGa>cAa p.R584Q NM_019066.4 NP_061939.3 MAGE-like 2 breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1) 7 all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14) all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177) CAGGAATGCTCGAGGGCCCCA 0.512000 23 51 0 0 1 0 0 ITGB6 3694 broad.mit.edu 37 2 161052112 161052112 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:161052112G>A ENST00000283249.2 - 4 598 c.361C>T c.(361-363)Ctg>Ttg p.L121L ITGB6_ENST00000485635.1_5'UTR|ITGB6_ENST00000428609.2_Silent_p.L79L|ITGB6_ENST00000409872.1_Silent_p.L121L|ITGB6_ENST00000409967.2_Silent_p.L121L NM_001282353.1|NM_001282354.1|NM_001282388.1 NP_001269282.1|NP_001269283.1|NP_001269317.1 P18564 ITB6_HUMAN integrin, beta 6 121 cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development integrin complex receptor activity breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 23 TGCACCTGCAGAGTCTGCGCA 0.522000 16 63 0 0 1 0 0 TRANK1 9881 broad.mit.edu 37 3 36897001 36897001 + Missense_Mutation SNP C C A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:36897001C>A ENST00000301807.6 - 12 4327 c.2430G>T c.(2428-2430)caG>caT p.Q810H TRANK1_ENST00000429976.2_Missense_Mutation_p.Q1360H|TRANK1_ENST00000428977.2_Missense_Mutation_p.Q810H O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 1360 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 AATAACCTTTCTGGGACCTGA 0.473000 51 131 1.39193e-11 1.45899e-11 1 1 0 C16orf90 646174 broad.mit.edu 37 16 3543964 3543964 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr16:3543964C>G ENST00000437192.3 - 3 426 c.424G>C c.(424-426)Gac>Cac p.D142H LA16c-306E5.3_ENST00000574423.2_RNA NM_001080524.1 NP_001073993.1 A8MZG2 CP090_HUMAN chromosome 16 open reading frame 90 132 large_intestine(1) 1 GCACCCTTGTCTGGGTCCATG 0.632000 11 17 0 0 1 0 0 GPR37L1 9283 broad.mit.edu 37 1 202092471 202092471 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:202092471C>G ENST00000367282.5 + 1 486 c.380C>G c.(379-381)tCc>tGc p.S127C NM_004767.3 NP_004758.3 O60883 ETBR2_HUMAN G protein-coupled receptor 37 like 1 integral to membrane|plasma membrane G-protein coupled receptor activity|protein binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2) 18 ACCGAGAGCTCCTACAGTGCC 0.597000 22 67 0 0 1 0 0 COL4A4 1286 broad.mit.edu 37 2 227898175 227898175 + Silent SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:227898175C>G ENST00000396625.3 - 38 3735 c.3528G>C c.(3526-3528)ctG>ctC p.L1176L COL4A4_ENST00000329662.7_Silent_p.L1176L NM_000092.4 NP_000083.3 P53420 CO4A4_HUMAN collagen, type IV, alpha 4 1176 Triple-helical region. axon guidance|glomerular basement membrane development basal lamina|collagen type IV extracellular matrix structural constituent|protein binding breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 98 Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242) Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181) GCAAGCCGTTCAGGCCAGGTG 0.522000 OREG0015250 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 48 0 0 1 0 0 MMP12 4321 broad.mit.edu 37 11 102742592 102742592 + RNA SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:102742592C>G ENST00000532855.1 - 0 537 P39900 MMP12_HUMAN matrix metallopeptidase 12 (macrophage elastase) positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 26 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.014) Acetohydroxamic Acid(DB00551) TGCTGAATTTCAAGGGGGTAA 0.418000 9 19 0 0 1 0 0 MYT1 4661 broad.mit.edu 37 20 62859375 62859375 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr20:62859375C>T ENST00000360149.4 + 16 1981 c.1763C>T c.(1762-1764)tCg>tTg p.S588L MYT1_ENST00000536311.1_Intron|MYT1_ENST00000328439.1_Intron Q01538 MYT1_HUMAN myelin transcription factor 1 0 cell differentiation|nervous system development nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 55 all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09) TTGAGATTTTCGTGTGTTTTA 0.438000 6 20 0 0 1 0 0 LALBA 3906 broad.mit.edu 37 12 48962944 48962944 + Silent SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:48962944G>C ENST00000549817.1 - 2 258 c.213C>G c.(211-213)ctC>ctG p.L71L LALBA_ENST00000301046.2_Silent_p.L71L P00709 LALBA_HUMAN lactalbumin, alpha- 71 cell-cell signaling|defense response to bacterium|induction of apoptosis|lactose biosynthetic process|signal transduction extracellular space calcium ion binding|lactose synthase activity large_intestine(1)|stomach(2) 3 TGATCTGGAAGAGTCCATATT 0.453000 18 65 0 0 1 0 0 TMPRSS2 7113 broad.mit.edu 37 21 42845282 42845282 + Nonsense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr21:42845282C>T ENST00000398585.3 - 9 1040 c.980G>A c.(979-981)tGg>tAg p.W327* TMPRSS2_ENST00000458356.1_Nonsense_Mutation_p.W290*|TMPRSS2_ENST00000332149.5_Nonsense_Mutation_p.W290* NM_001135099.1 NP_001128571.1 O15393 TMPS2_HUMAN transmembrane protease, serine 2 290 Peptidase S1. proteolysis cytoplasm|extracellular region|integral to plasma membrane scavenger receptor activity|serine-type endopeptidase activity TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13) central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 4 Prostate(19;4.48e-07)|all_epithelial(19;0.031) TGTCACGATCCACTCGGGGGT 0.706000 T """ERG, ETV1, ETV4, ETV5""" prostate 10 24 0 0 1 0 0 ABCC1 4363 broad.mit.edu 37 16 16184358 16184358 + Nonsense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr16:16184358C>T ENST00000399408.2 + 19 2732 c.2557C>T c.(2557-2559)Cag>Tag p.Q853* ABCC1_ENST00000346370.5_Nonsense_Mutation_p.Q797*|ABCC1_ENST00000351154.5_Nonsense_Mutation_p.Q794*|ABCC1_ENST00000345148.5_Nonsense_Mutation_p.Q853*|ABCC1_ENST00000349029.5_Nonsense_Mutation_p.Q738*|ABCC1_ENST00000399410.3_Nonsense_Mutation_p.Q853* P33527 MRP1_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 1 853 ABC transporter 1. hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3) 56 Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138) GGGCTCCTACCAGGAGCTGCT 0.607000 8 37 0 0 1 0 0 CASP8 841 broad.mit.edu 37 2 202139648 202139648 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:202139648C>G ENST00000358485.4 + 6 1005 c.809C>G c.(808-810)tCt>tGt p.S270C CASP8_ENST00000264274.9_Intron|CASP8_ENST00000392259.2_Intron|CASP8_ENST00000392266.3_Intron|CASP8_ENST00000392258.3_Intron|CASP8_ENST00000264275.5_Missense_Mutation_p.S228C|CASP8_ENST00000432109.2_Missense_Mutation_p.S211C|CASP8_ENST00000323492.7_Missense_Mutation_p.S196C NM_001080125.1 NP_001073594.1 Q14790 CASP8_HUMAN caspase 8, apoptosis-related cysteine peptidase 211 activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor centrosome|cytosol|mitochondrial outer membrane cysteine-type endopeptidase activity|protein binding breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3) 52 ATCTCGGACTCTCCAAGAGAA 0.388000 HNSCC(4;0.00038) 11 27 0 0 1 0 0 BIRC6 57448 broad.mit.edu 37 2 32678953 32678953 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:32678953C>G ENST00000421745.2 + 23 4830 c.4696C>G c.(4696-4698)Ctg>Gtg p.L1566V NM_016252.3 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 1566 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) AGTTGAACCTCTGCACTTTAC 0.383000 24 59 0 0 1 0 0 ZNF491 126069 broad.mit.edu 37 19 11917627 11917627 + Nonsense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:11917627C>T ENST00000323169.5 + 3 1190 c.859C>T c.(859-861)Caa>Taa p.Q287* ZNF491_ENST00000492230.1_Intron NM_152356.3 NP_689569.2 Q8N8L2 ZN491_HUMAN zinc finger protein 491 287 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1) 26 CAGTTCATTTCAAAGGCATGA 0.423000 8 44 0 0 1 0 0 CCDC140 151278 broad.mit.edu 37 2 223169063 223169063 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:223169063G>A ENST00000295226.1 + 2 826 c.442G>A c.(442-444)Gag>Aag p.E148K NM_153038.1 NP_694583.1 Q96MF4 CC140_HUMAN coiled-coil domain containing 140 148 endometrium(4)|large_intestine(1)|prostate(1) 6 Renal(207;0.0376) Epithelial(121;4.03e-10)|all cancers(144;1.8e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) aaagaagaaagagagaaagag 0.478000 5 26 0 0 1 0 0 SLC23A3 151295 broad.mit.edu 37 2 220032963 220032963 + Nonsense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:220032963G>C ENST00000455516.2 - 6 823 c.776C>G c.(775-777)tCa>tGa p.S259* SLC23A3_ENST00000396775.3_Missense_Mutation_p.F132L|SLC23A3_ENST00000295738.7_Missense_Mutation_p.Q241E|SLC23A3_ENST00000409878.3_Nonsense_Mutation_p.S251* NM_001144890.1 NP_001138362.1 Q6PIS1 S23A3_HUMAN solute carrier family 23, member 3 251 transmembrane transport integral to membrane protein binding|transporter activity endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1) 11 Renal(207;0.0474) Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) TGATGACGTTGAAGCTCGCCT 0.577000 11 32 0 0 1 0 0 BBX 56987 broad.mit.edu 37 3 107524303 107524303 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:107524303G>A ENST00000416476.2 + 17 2036 c.1816G>A c.(1816-1818)Gaa>Aaa p.E606K BBX_ENST00000325805.8_Silent_p.*942*|BBX_ENST00000402543.1_Silent_p.*892*|BBX_ENST00000406780.1_Silent_p.*912*|BBX_ENST00000415149.2_Silent_p.*912* Q8WY36 BBX_HUMAN bobby sox homolog (Drosophila) 0 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2) 49 OV - Ovarian serous cystadenocarcinoma(3;0.112) GCTGACCAGTGAAGCGCCCTT 0.468000 21 88 0 0 1 0 0 NFS1 9054 broad.mit.edu 37 20 34261595 34261595 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr20:34261595G>C ENST00000374092.4 - 11 1218 c.1148C>G c.(1147-1149)tCt>tGt p.S383C NFS1_ENST00000541387.1_Missense_Mutation_p.S332C|RP1-309K20.6_ENST00000541176.2_Missense_Mutation_p.L43V|NFS1_ENST00000498084.1_5'UTR|NFS1_ENST00000374085.1_Missense_Mutation_p.S323C|NFS1_ENST00000397425.1_Missense_Mutation_p.S323C|NFS1_ENST00000540053.1_Missense_Mutation_p.S181C NM_021100.4 NP_066923.3 Q9Y697 NFS1_HUMAN NFS1 cysteine desulfurase 383 cysteine metabolic process|iron incorporation into metallo-sulfur cluster|Mo-molybdopterin cofactor biosynthetic process|protein complex assembly|water-soluble vitamin metabolic process cytosol|mitochondrial matrix|nucleus cysteine desulfurase activity|protein homodimerization activity|pyridoxal phosphate binding central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 18 Lung NSC(9;0.00608)|all_lung(11;0.00918) BRCA - Breast invasive adenocarcinoma(18;0.0886) L-Alanine(DB00160)|L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114) CAGGGATGCAGAGGTGCAGGC 0.493000 17 57 0 0 1 0 0 PGC 5225 broad.mit.edu 37 6 41707611 41707611 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:41707611G>C ENST00000373025.3 - 7 903 c.841C>G c.(841-843)Ctg>Gtg p.L281V NM_002630.3 NP_002621.1 P20142 PEPC_HUMAN progastricsin (pepsinogen C) 281 digestion|proteolysis extracellular space aspartic-type endopeptidase activity endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|skin(1) 16 Ovarian(28;0.0355)|Colorectal(47;0.121) Epithelial(12;0.000132)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507) ACAGTGAGCAGAGAGGTGCCT 0.612000 35 87 0 0 1 0 0 APLNR 187 broad.mit.edu 37 11 57004286 57004286 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:57004286C>T ENST00000606794.1 - 1 389 c.193G>A c.(193-195)Gat>Aat p.D65N NM_005161.4 NP_005152.1 P35414 APJ_HUMAN apelin receptor 65 integral to plasma membrane G-protein coupled receptor activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 32 ATGAAGATATCAGCTGAGCGC 0.612000 20 59 0 0 1 0 0 DIAPH3 81624 broad.mit.edu 37 13 60584692 60584692 + Missense_Mutation SNP C C A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr13:60584692C>A ENST00000400324.4 - 8 1103 c.883G>T c.(883-885)Gta>Tta p.V295L DIAPH3_ENST00000400320.1_Missense_Mutation_p.V249L|DIAPH3_ENST00000377908.2_Missense_Mutation_p.V284L|DIAPH3_ENST00000267215.4_Missense_Mutation_p.V295L|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400330.1_Missense_Mutation_p.V295L|DIAPH3_ENST00000400319.1_Missense_Mutation_p.V225L NM_001042517.1|NM_001258366.1 NP_001035982.1|NP_001245295.1 Q9NSV4 DIAP3_HUMAN diaphanous-related formin 3 295 GBD/FH3. actin cytoskeleton organization actin binding|Rho GTPase binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 46 Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132) GBM - Glioblastoma multiforme(99;2.77e-05) ACAATGCATACCGCAGAGAGA 0.368000 4 16 0.150653 0.151009 1 1 0 TBX10 347853 broad.mit.edu 37 11 67402490 67402490 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:67402490C>T ENST00000335385.3 - 2 339 c.252G>A c.(250-252)gaG>gaA p.E84E NM_005995.4 NP_005986.2 O75333 TBX10_HUMAN T-box 10 84 anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|lung(4)|ovary(1) 7 TGACGATCATCTCAGTGCCCA 0.647000 26 45 0 0 1 0 0 ELP4 26610 broad.mit.edu 37 11 31648699 31648699 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:31648699G>A ENST00000395934.2 + 6 703 c.696G>A c.(694-696)caG>caA p.Q232Q ELP4_ENST00000379163.5_Silent_p.Q233Q|ELP4_ENST00000350638.5_Silent_p.Q232Q Q96EB1 ELP4_HUMAN elongator acetyltransferase complex subunit 4 232 histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex phosphorylase kinase regulator activity|protein binding breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3) 20 Lung SC(675;0.225) AGTTTATCCAGAACATCATTT 0.318000 14 44 0 0 1 0 0 WDR60 55112 broad.mit.edu 37 7 158723187 158723187 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:158723187C>T ENST00000407559.3 + 21 2685 c.2527C>T c.(2527-2529)Ctg>Ttg p.L843L NM_018051.4 NP_060521.4 Q8WVS4 WDR60_HUMAN WD repeat domain 60 843 NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2) 35 Ovarian(565;0.152) all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603) OV - Ovarian serous cystadenocarcinoma(82;0.00174) UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18) ACATAGTGCTCTGATCCAGTT 0.408000 4 16 0 0 1 0 0 SMG5 23381 broad.mit.edu 37 1 156247731 156247731 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:156247731G>A ENST00000361813.5 - 3 426 c.282C>T c.(280-282)atC>atT p.I94I SMG5_ENST00000368267.5_Silent_p.I94I NM_015327.2 NP_056142.2 Q9UPR3 SMG5_HUMAN SMG5 nonsense mediated mRNA decay factor 94 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation cytoplasm|nucleus protein phosphatase 2A binding NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 48 Hepatocellular(266;0.158) TGTTAGTCTTGATAAGCTGGA 0.478000 65 223 0 0 1 0 0 MAP7 9053 broad.mit.edu 37 6 136683622 136683622 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:136683622C>G ENST00000354570.3 - 11 1902 c.1492G>C c.(1492-1494)Gaa>Caa p.E498Q MAP7_ENST00000454590.1_Missense_Mutation_p.E520Q|MAP7_ENST00000438100.2_Missense_Mutation_p.E483Q|MAP7_ENST00000432797.2_Missense_Mutation_p.E352Q|MAP7_ENST00000544465.1_Missense_Mutation_p.E483Q NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4 NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1 Q14244 MAP7_HUMAN microtubule-associated protein 7 498 establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm receptor binding|structural molecule activity endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 33 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643) CTCTCCCTTTCTTCCTTTTCT 0.527000 47 150 0 0 1 0 0 GPR179 440435 broad.mit.edu 37 17 36484647 36484647 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:36484647C>G ENST00000342292.4 - 11 4825 c.4805G>C c.(4804-4806)aGa>aCa p.R1602T NM_001004334.2 NP_001004334.2 Q6PRD1 GP179_HUMAN G protein-coupled receptor 179 1602 integral to membrane|plasma membrane G-protein coupled receptor activity breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) CCATTCCTCTCTTGTTCTTTC 0.498000 54 191 0 0 1 0 0 MFSD12 126321 broad.mit.edu 37 19 3550998 3550998 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:3550998C>G ENST00000355415.2 - 2 662 c.493G>C c.(493-495)Gag>Cag p.E165Q AC005786.7_ENST00000589360.1_RNA|MFSD12_ENST00000591878.1_5'UTR|MFSD12_ENST00000398558.4_Missense_Mutation_p.E165Q|MFSD12_ENST00000389395.3_Missense_Mutation_p.E165Q NM_174983.3 NP_778148.2 Q6NUT3 CS028_HUMAN major facilitator superfamily domain containing 12 165 transmembrane transport integral to membrane cervix(1)|endometrium(2)|lung(4)|urinary_tract(2) 9 GCCGTGAGCTCCACCTTCTCA 0.642000 17 28 0 0 1 0 0 CHAT 1103 broad.mit.edu 37 10 50857645 50857645 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:50857645C>G ENST00000395562.2 + 11 1697 c.1228C>G c.(1228-1230)Caa>Gaa p.Q410E CHAT_ENST00000395559.2_Missense_Mutation_p.Q374E|CHAT_ENST00000337653.2_Missense_Mutation_p.Q492E|CHAT_ENST00000351556.3_Missense_Mutation_p.Q374E|CHAT_ENST00000339797.1_Missense_Mutation_p.Q374E|CHAT_ENST00000455728.2_Missense_Mutation_p.Q374E NM_001142933.1|NM_001142934.1 NP_001136405|NP_001136406.1 P28329 CLAT_HUMAN choline O-acetyltransferase 492 neurotransmitter biosynthetic process|neurotransmitter secretion cytosol|nucleus choline O-acetyltransferase activity central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1) 56 all_neural(218;0.107) GBM - Glioblastoma multiforme(2;0.000585) Choline(DB00122) CCCGGAAATTCAAGGCCACTT 0.617000 22 98 0 0 1 0 0 CDC40 51362 broad.mit.edu 37 6 110531931 110531931 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:110531931G>A ENST00000368932.1 + 7 753 c.652G>A c.(652-654)Gaa>Aaa p.E218K CDC40_ENST00000368930.1_Missense_Mutation_p.E218K|CDC40_ENST00000307731.1_Missense_Mutation_p.E218K O60508 PRP17_HUMAN cell division cycle 40 218 mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription catalytic step 2 spliceosome|nucleoplasm breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1) 18 all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488) Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034) AGAATTGGATGAAATCACAGC 0.318000 8 10 0 0 1 0 0 DHRS4 10901 broad.mit.edu 37 14 24424331 24424331 + Silent SNP G G A rs142533242 TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:24424331G>A ENST00000313250.5 + 2 419 c.216G>A c.(214-216)gcG>gcA p.A72A DHRS4_ENST00000558263.1_Silent_p.A72A|DHRS4_ENST00000559632.1_Silent_p.A72A|DHRS4_ENST00000382761.3_Silent_p.A54A|DHRS4_ENST00000308178.8_Silent_p.A54A|DHRS4_ENST00000397074.3_Silent_p.A72A|DHRS4_ENST00000397075.3_Silent_p.A72A|DHRS4_ENST00000397073.2_Silent_p.A54A|DHRS4_ENST00000421831.1_Silent_p.A54A|DHRS4_ENST00000558581.1_Silent_p.A72A|DHRS4_ENST00000543741.2_Silent_p.A72A NM_021004.2 NP_066284.2 Q9BTZ2 DHRS4_HUMAN dehydrogenase/reductase (SDR family) member 4 72 mitochondrion|nuclear membrane|peroxisome binding|carbonyl reductase (NADPH) activity central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 14 GBM - Glioblastoma multiforme(265;0.00962) Vitamin A(DB00162) TGGACCAGGCGGTGGCCACGC 0.692000 36 112 0 0 1 0 0 BACH1 571 broad.mit.edu 37 21 30723959 30723959 + RNA SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr21:30723959C>T ENST00000504298.1 + 0 5 NR_027655.1 TTTCAGGGTTCTGTGGAAAAT 0.428000 10 49 0 0 1 0 0 CDC34 997 broad.mit.edu 37 19 541369 541369 + Silent SNP G G A rs143039634 TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:541369G>A ENST00000215574.4 + 5 746 c.528G>A c.(526-528)gcG>gcA p.A176A NM_004359.1 NP_004350.1 P49427 UB2R1_HUMAN cell division cycle 34 176 DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|negative regulation of cAMP-mediated signaling|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination cytoplasm|nucleus ATP binding|protein binding|ubiquitin-protein ligase activity large_intestine(1)|lung(1) 2 all_cancers(10;1.94e-35)|all_epithelial(18;5.94e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) AGGTGGACGCGGAGCGTGACG 0.716000 5 18 0 0 1 0 0 TBC1D31 93594 broad.mit.edu 37 8 124146406 124146406 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:124146406G>C ENST00000287380.1 + 17 2549 c.2459G>C c.(2458-2460)aGa>aCa p.R820T TBC1D31_ENST00000518805.1_Missense_Mutation_p.R374T|TBC1D31_ENST00000309336.3_Missense_Mutation_p.R820T|TBC1D31_ENST00000522420.1_Missense_Mutation_p.R715T|TBC1D31_ENST00000378080.2_3'UTR|TBC1D31_ENST00000327098.5_Intron|TBC1D31_ENST00000521676.1_Missense_Mutation_p.R697T NM_145647.3 NP_663622.2 TBC1 domain family, member 31 CTAGAAATGAGACAGCTGGAA 0.378000 27 69 0 0 1 0 0 UBQLN3 50613 broad.mit.edu 37 11 5530516 5530516 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:5530516G>A ENST00000311659.4 - 2 420 c.273C>T c.(271-273)atC>atT p.I91I HBG2_ENST00000380259.2_Intron NM_017481.2 NP_059509.1 Q9H347 UBQL3_HUMAN ubiquilin 3 91 Ubiquitin-like. NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2) 39 Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212) Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GCTGCCTCTTGATGACCAGGT 0.567000 21 75 0 0 1 0 0 INCA1 388324 broad.mit.edu 37 17 4891776 4891776 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:4891776G>A ENST00000396829.2 - 9 1201 c.635C>T c.(634-636)tCg>tTg p.S212L INCA1_ENST00000574617.1_Missense_Mutation_p.S212L|INCA1_ENST00000575780.1_Missense_Mutation_p.S197L|INCA1_ENST00000576820.1_Missense_Mutation_p.S212L|INCA1_ENST00000355025.3_Missense_Mutation_p.S197L NM_001167986.1 NP_001161458.1 Q0VD86 INCA1_HUMAN inhibitor of CDK, cyclin A1 interacting protein 1 212 nucleus upper_aerodigestive_tract(1) 1 AGTGCTGAACGAGGCCAGAGA 0.567000 26 74 0 0 1 0 0 FAM208B 54906 broad.mit.edu 37 10 5772507 5772507 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:5772507C>G ENST00000328090.5 + 11 1170 c.545C>G c.(544-546)tCt>tGt p.S182C RP11-336A10.2_ENST00000411512.2_RNA NM_017782.4 NP_060252 Q5VWN6 CJ018_HUMAN family with sequence similarity 208, member B 182 CCTATTTTATCTACCCTTAAT 0.333000 15 43 0 0 1 0 0 TMX4 56255 broad.mit.edu 37 20 7964486 7964486 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr20:7964486C>G ENST00000246024.2 - 7 849 c.634G>C c.(634-636)Gaa>Caa p.E212Q NM_021156.2 NP_066979.2 Q9H1E5 TMX4_HUMAN thioredoxin-related transmembrane protein 4 212 cell redox homeostasis|electron transport chain|transport integral to membrane endometrium(3)|large_intestine(2)|lung(11)|skin(1) 17 TAGAAACATTCTGATATTACC 0.388000 12 43 0 0 1 0 0 SHMT1 6470 broad.mit.edu 37 17 18232688 18232688 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:18232688G>C ENST00000316694.3 - 11 1320 c.1186C>G c.(1186-1188)Ctg>Gtg p.L396V SHMT1_ENST00000354098.3_Missense_Mutation_p.L357V|SHMT1_ENST00000352886.6_Missense_Mutation_p.L316V|SHMT1_ENST00000539052.1_Missense_Mutation_p.L258V NM_004169.3 NP_004160.3 P34896 GLYC_HUMAN serine hydroxymethyltransferase 1 (soluble) 396 carnitine biosynthetic process|folic acid metabolic process|L-serine catabolic process|one-carbon metabolic process|purine base biosynthetic process cytosol|nucleus glycine hydroxymethyltransferase activity|protein homodimerization activity|pyridoxal phosphate binding p.L396V(1) breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1) 13 Glycine(DB00145)|Mimosine(DB01055)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116) CTGGGCCGCAGAGCGCTTCTG 0.512000 11 37 0 0 1 0 0 CPA2 1358 broad.mit.edu 37 7 129916530 129916530 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:129916530C>T ENST00000222481.4 + 7 703 c.648C>T c.(646-648)ttC>ttT p.F216F NM_001869.2 NP_001860.2 P48052 CBPA2_HUMAN carboxypeptidase A2 (pancreatic) 216 proteolysis|vacuolar protein catabolic process extracellular region|vacuole metallocarboxypeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 Melanoma(18;0.0435) TGGATATCTTCCTCCTGCCAG 0.453000 24 89 0 0 1 0 0 TRGC2 6967 broad.mit.edu 37 7 38289057 38289057 + RNA SNP C C A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:38289057C>A ENST00000436911.2 - 0 116 TTAATAATATCTGGGAAAAAT 0.403000 45 151 4.16155e-14 4.38642e-14 1 1 0 GAS2L1 10634 broad.mit.edu 37 22 29707904 29707904 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr22:29707904C>T ENST00000471961.1 + 5 2511 c.1463C>T c.(1462-1464)tCt>tTt p.S488F GAS2L1_ENST00000406549.3_Intron|GAS2L1_ENST00000403764.1_Missense_Mutation_p.S488F|GAS2L1_ENST00000407647.2_Missense_Mutation_p.S488F|GAS2L1_ENST00000407854.1_Missense_Mutation_p.S488F|GAS2L1_ENST00000360113.2_3'UTR|GAS2L1_ENST00000341313.6_3'UTR Q99501 GA2L1_HUMAN growth arrest-specific 2 like 1 620 cell cycle arrest cytoplasm|cytoskeleton endometrium(2)|lung(2)|prostate(1) 5 TTTCCCGGGTCTCCAGCCCCA 0.716000 19 50 0 0 1 0 0 SLC32A1 140679 broad.mit.edu 37 20 37357157 37357157 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr20:37357157C>G ENST00000217420.1 + 2 1716 c.1453C>G c.(1453-1455)Ctg>Gtg p.L485V NM_080552.2 NP_542119.1 Q9H598 VIAAT_HUMAN solute carrier family 32 (GABA vesicular transporter), member 1 485 neurotransmitter secretion clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane vesicular hydrogen:amino acid antiporter activity breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1) 38 Myeloproliferative disorder(115;0.00878) Glycine(DB00145) CTGGCGCAAGCTGCTGTGGCA 0.652000 16 42 0 0 1 0 0 MARK4 57787 broad.mit.edu 37 19 45781258 45781258 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:45781258G>A ENST00000300843.4 + 9 1161 c.864G>A c.(862-864)cgG>cgA p.R288R MARK4_ENST00000262891.4_Silent_p.R288R NM_031417.3 NP_113605.2 Q96L34 MARK4_HUMAN MAP/microtubule affinity-regulating kinase 4 288 Protein kinase. microtubule bundle formation|nervous system development|positive regulation of programmed cell death centrosome|neuron projection ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 31 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0102) GCATCCTGCGGAGATTTTTGG 0.572000 45 102 0 0 1 0 0 GHRHR 2692 broad.mit.edu 37 7 31013635 31013635 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:31013635C>T ENST00000409904.3 + 4 699 c.441C>T c.(439-441)ttC>ttT p.F147F GHRHR_ENST00000409316.1_Intron|GHRHR_ENST00000326139.2_Silent_p.F211F|GHRHR_ENST00000461424.1_3'UTR Q02643 GHRHR_HUMAN growth hormone releasing hormone receptor 211 activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 Sermorelin(DB00010) CCTCCCATTTCGCCACCATGA 0.627000 40 85 0 0 1 0 0 PTGFRN 5738 broad.mit.edu 37 1 117509931 117509931 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:117509931G>C ENST00000393203.2 + 6 2185 c.2038G>C c.(2038-2040)Gag>Cag p.E680Q PTGFRN_ENST00000496699.1_3'UTR NM_020440.2 NP_065173.2 Q9P2B2 FPRP_HUMAN prostaglandin F2 receptor inhibitor 680 endoplasmic reticulum membrane|Golgi apparatus|integral to membrane protein binding NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1) 46 Lung SC(450;0.225) all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446) Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248) CAATCCTATTGAGATAGACTT 0.522000 21 69 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7733673 7733673 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:7733673C>T ENST00000572933.1 + 78 13369 c.11909C>T c.(11908-11910)tCc>tTc p.S3970F DNAH2_ENST00000389173.2_Missense_Mutation_p.S3970F Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 3970 AAA 6 (By similarity). ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) CCACAGTTTTCCCGCTGCTCC 0.463000 21 97 0 0 1 0 0 BUD31 8896 broad.mit.edu 37 7 99013816 99013816 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:99013816C>G ENST00000403633.2 + 4 679 c.150C>G c.(148-150)ttC>ttG p.F50L BUD31_ENST00000456893.1_Intron|BUD31_ENST00000222969.5_Missense_Mutation_p.F50L|BUD31_ENST00000431419.1_Missense_Mutation_p.F21L P41223 BUD31_HUMAN BUD31 homolog (S. cerevisiae) 50 regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1) 4 all_cancers(62;1.76e-08)|all_epithelial(64;1.63e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) STAD - Stomach adenocarcinoma(171;0.215) GGCCCATCTTCAGGATCCACC 0.493000 30 79 0 0 1 0 0 LARP4B 23185 broad.mit.edu 37 10 860896 860896 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:860896G>A ENST00000316157.3 - 15 1850 c.1810C>T c.(1810-1812)Cat>Tat p.H604Y LARP4B_ENST00000469487.1_5'UTR NM_015155.1 NP_055970.1 Q92615 LAR4B_HUMAN La ribonucleoprotein domain family, member 4B 604 nucleotide binding|RNA binding p.H604Y(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2) 38 TCGGGTAAATGAGCTGGGGAG 0.532000 20 66 0 0 1 0 0 STEAP1 26872 broad.mit.edu 37 7 89790200 89790200 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:89790200G>C ENST00000297205.2 + 3 366 c.166G>C c.(166-168)Gac>Cac p.D56H STEAP2-AS1_ENST00000478318.2_RNA NM_012449.2 NP_036581.1 Q9UHE8 STEA1_HUMAN six transmembrane epithelial antigen of the prostate 1 56 electron transport chain|ion transport|iron ion homeostasis cell-cell junction|endosome membrane|integral to plasma membrane channel activity|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity kidney(2)|large_intestine(3)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 14 all_hematologic(106;0.112) TGATGAATTTGACTGCCCTTC 0.423000 40 155 0 0 1 0 0 SI 6476 broad.mit.edu 37 3 164712184 164712184 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:164712184G>A ENST00000264382.3 - 41 4764 c.4702C>T c.(4702-4704)Ccc>Tcc p.P1568S NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 1568 Sucrase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) CAGGAAGCGGGATCTTGTCTC 0.299000 HNSCC(35;0.089) 21 54 0 0 1 0 0 SRSF6 6431 broad.mit.edu 37 20 42088812 42088812 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr20:42088812G>C ENST00000244020.3 + 4 627 c.521G>C c.(520-522)aGa>aCa p.R174T NM_006275.5 NP_006266.2 Q13247 SRSF6_HUMAN serine/arginine-rich splicing factor 6 174 RRM 2. mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription nucleoplasm nucleotide binding|protein binding|RNA binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2) 5 ATAAATGGCAGAAATATTAGG 0.453000 13 44 0 0 1 0 0 ODF2 4957 broad.mit.edu 37 9 131258398 131258398 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:131258398C>G ENST00000434106.3 + 18 2353 c.1990C>G c.(1990-1992)Ctg>Gtg p.L664V ODF2_ENST00000351030.3_Missense_Mutation_p.L659V|ODF2_ENST00000393527.3_Missense_Mutation_p.L640V|ODF2_ENST00000604420.1_Missense_Mutation_p.L664V|ODF2_ENST00000444119.2_Missense_Mutation_p.L640V|ODF2_ENST00000372807.5_Missense_Mutation_p.L659V NM_153433.1 NP_702911.1 Q5BJF6 ODFP2_HUMAN outer dense fiber of sperm tails 2 cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis centriole|cilium|cytosol|microtubule|spindle pole protein binding|structural molecule activity autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 37 ACAGCTGAGTCTGAAGGTGGA 0.483000 23 82 0 0 1 0 0 CCDC40 55036 broad.mit.edu 37 17 78061848 78061848 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:78061848G>A ENST00000397545.4 + 16 2685 c.2658G>A c.(2656-2658)ctG>ctA p.L886L CCDC40_ENST00000374877.3_Silent_p.L886L NM_017950.3 NP_060420.2 Q4G0X9 CCD40_HUMAN coiled-coil domain containing 40 886 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium|cytoplasm NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 38 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149) AGGACAAGCTGAACCAGCTCA 0.617000 18 57 0 0 1 0 0 TJP2 9414 broad.mit.edu 37 9 71852031 71852031 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:71852031G>C ENST00000377245.4 + 14 2366 c.2158G>C c.(2158-2160)Gag>Cag p.E720Q TJP2_ENST00000453658.2_Missense_Mutation_p.E697Q|TJP2_ENST00000535702.1_Missense_Mutation_p.E724Q|TJP2_ENST00000265384.7_Missense_Mutation_p.E720Q|TJP2_ENST00000348208.4_Missense_Mutation_p.E720Q|TJP2_ENST00000539225.1_Missense_Mutation_p.E751Q NM_004817.3 NP_004808.2 Q9UDY2 ZO2_HUMAN tight junction protein 2 720 Guanylate kinase-like. cellular component disassembly involved in apoptosis adherens junction|cytoplasm|nucleus|tight junction guanylate kinase activity|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1) 35 CCCAGCTTATGAGAGGGTTTT 0.517000 24 112 0 0 1 0 0 CYP4F22 126410 broad.mit.edu 37 19 15662126 15662126 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:15662126C>T ENST00000269703.3 + 14 1639 c.1440C>T c.(1438-1440)ttC>ttT p.F480F CYP4F22_ENST00000601005.2_Silent_p.F480F NM_173483.3 NP_775754.2 Q6NT55 CP4FN_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 22 endoplasmic reticulum membrane|microsome electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1) 37 GACAGAGCTTCGCCATGGCCG 0.617000 8 21 0 0 1 0 0 SLC2A9 56606 broad.mit.edu 37 4 10027568 10027568 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr4:10027568C>T ENST00000506583.1 - 3 240 c.23G>A c.(22-24)cGa>cAa p.R8Q SLC2A9_ENST00000309065.3_Missense_Mutation_p.R8Q Q9NRM0 GTR9_HUMAN solute carrier family 2 (facilitated glucose transporter), member 9 0 glucose transport|urate metabolic process integral to membrane|plasma membrane sugar:hydrogen symporter activity NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1) 35 ATCTTCTCCTCGGTCCTTTTT 0.388000 5 57 0 0 1 0 0 NLRP5 126206 broad.mit.edu 37 19 56539034 56539034 + Missense_Mutation SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:56539034G>T ENST00000390649.3 + 7 1435 c.1435G>T c.(1435-1437)Gtg>Ttg p.V479L NM_153447.4 NP_703148.4 P59047 NALP5_HUMAN NLR family, pyrin domain containing 5 479 NACHT. mitochondrion|nucleolus ATP binding breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2) 25 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) TCTCATCTGCGTGGCCCTGCA 0.617000 16 53 1.99824e-07 2.07021e-07 1 1 0 SPAG17 200162 broad.mit.edu 37 1 118535110 118535110 + Silent SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:118535110C>G ENST00000336338.5 - 36 5405 c.5340G>C c.(5338-5340)ctG>ctC p.L1780L NM_206996.2 NP_996879.1 Q6Q759 SPG17_HUMAN sperm associated antigen 17 1780 cilium|flagellar axoneme|microtubule NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 123 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) CCTGCAGCCTCAGTTTCACCT 0.463000 24 69 0 0 1 0 0 VPS13D 55187 broad.mit.edu 37 1 12343399 12343399 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:12343399G>A ENST00000358136.3 + 21 5370 c.5240G>A c.(5239-5241)cGg>cAg p.R1747Q VPS13D_ENST00000356315.4_Missense_Mutation_p.R1747Q NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 1747 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) TCTGCGTCCCGGAAAAAGCAA 0.478000 14 44 0 0 1 0 0 MCRS1 10445 broad.mit.edu 37 12 49952459 49952459 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:49952459G>C ENST00000550165.1 - 16 1622 c.1356C>G c.(1354-1356)atC>atG p.I452M MCRS1_ENST00000546244.1_Missense_Mutation_p.I261M|MCRS1_ENST00000547182.1_5'UTR|MCRS1_ENST00000343810.4_Missense_Mutation_p.I452M|MCRS1_ENST00000357123.4_Missense_Mutation_p.I465M Q96EZ8 MCRS1_HUMAN microspherule protein 1 452 DNA recombination|DNA repair|protein modification process|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|Ino80 complex|MLL1 complex|nucleolus protein binding breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11) 23 CCTCAGCCCTGATGAGGGCAA 0.607000 18 71 0 0 1 0 0 ASXL3 80816 broad.mit.edu 37 18 31319557 31319557 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr18:31319557C>T ENST00000269197.5 + 11 2189 c.2189C>T c.(2188-2190)tCa>tTa p.S730L NM_030632.1 NP_085135.1 Q9C0F0 ASXL3_HUMAN additional sex combs like 3 (Drosophila) 730 Ser-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 43 GAAACTTCTTCAGTGTCTTCC 0.398000 55 207 0 0 1 0 0 SEMA4A 64218 broad.mit.edu 37 1 156146338 156146338 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:156146338G>A ENST00000368285.3 + 15 2103 c.1836G>A c.(1834-1836)ctG>ctA p.L612L SEMA4A_ENST00000368284.1_Silent_p.L480L|SEMA4A_ENST00000355014.2_Silent_p.L612L|SEMA4A_ENST00000368286.2_Silent_p.L480L|SEMA4A_ENST00000368282.1_Silent_p.L612L NM_001193300.1|NM_022367.3 NP_001180229.1|NP_071762.2 Q9H3S1 SEM4A_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A 612 Ig-like C2-type. axon guidance integral to membrane|plasma membrane receptor activity breast(1)|ovary(2)|skin(2) 5 Hepatocellular(266;0.158) CCCTCTTGCTGATAGTGCAGG 0.557000 30 76 0 0 1 0 0 RP1 6101 broad.mit.edu 37 8 55538471 55538471 + Nonsense_Mutation SNP C C T rs104894082 TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:55538471C>T ENST00000220676.1 + 4 2177 c.2029C>T c.(2029-2031)Cga>Tga p.R677* NM_006269.1 NP_006260.1 P56715 RP1_HUMAN retinitis pigmentosa 1 (autosomal dominant) 677 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2) 169 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) GAAAAAATCTCGACAGCAAGC 0.323000 9 25 0 0 1 0 0 MAT2A 4144 broad.mit.edu 37 2 85769496 85769496 + Splice_Site SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:85769496G>T ENST00000306434.3 + 6 891 c.768G>T c.(766-768)caG>caT p.Q256H MAT2A_ENST00000409017.1_Splice_Site_p.Q193H NM_005911.5 NP_005902.1 P31153 METK2_HUMAN methionine adenosyltransferase II, alpha 256 methylation|xenobiotic metabolic process cytosol ATP binding|metal ion binding|methionine adenosyltransferase activity breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 9 L-Methionine(DB00134)|S-Adenosylmethionine(DB00118) GTGGGCCTCAGGTAATGTCAT 0.383000 5 29 0.014758 0.0148631 1 1 0 SLC22A18 5002 broad.mit.edu 37 11 2929501 2929501 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:2929501C>T ENST00000380574.1 + 3 614 c.183C>T c.(181-183)ttC>ttT p.F61F SLC22A18_ENST00000312221.5_Silent_p.F61F|SLC22A18_ENST00000347936.2_Silent_p.F61F|SLC22A18_ENST00000449793.2_Silent_p.F61F Q96BI1 S22AI_HUMAN solute carrier family 22, member 18 61 excretion|organic cation transport apical plasma membrane|cytoplasmic part|integral to membrane|nuclear envelope drug:hydrogen antiporter activity|symporter activity|ubiquitin protein ligase binding central_nervous_system(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 8 all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198) BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.192) CCATTGCCTTCGGCTACCTGC 0.617000 25 48 0 0 1 0 0 MED12L 116931 broad.mit.edu 37 3 150840663 150840663 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:150840663G>C ENST00000474524.1 + 3 336 c.298G>C c.(298-300)Gat>Cat p.D100H MED12L_ENST00000273432.4_Missense_Mutation_p.D100H|MED12L_ENST00000309237.4_Missense_Mutation_p.D100H|MED12L_ENST00000422248.2_Missense_Mutation_p.D100H NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 100 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TAATGCTAAAGATAATTATTG 0.388000 4 19 0 0 1 0 0 KCNH7 90134 broad.mit.edu 37 2 163360985 163360985 + Nonsense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:163360985G>A ENST00000332142.5 - 6 1195 c.1096C>T c.(1096-1098)Cga>Tga p.R366* KCNH7_ENST00000328032.4_Nonsense_Mutation_p.R359*|KCNH7_ENST00000477019.1_5'UTR NM_033272.3 NP_150375.2 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 7 366 regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 108 Ibutilide(DB00308) TTGTGTGTTCGATCTTTAACC 0.373000 17 63 0 0 1 0 0 SLC7A4 6545 broad.mit.edu 37 22 21384215 21384215 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr22:21384215C>T ENST00000382932.2 - 3 1475 c.1408G>A c.(1408-1410)Gat>Aat p.D470N SLC7A4_ENST00000403586.1_Missense_Mutation_p.D470N NM_004173.2 NP_004164.2 O43246 CTR4_HUMAN solute carrier family 7, member 4 470 cellular amino acid metabolic process integral to membrane basic amino acid transmembrane transporter activity breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2) 18 all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129) CTGTACCCATCCAAGAAGCCC 0.612000 16 48 0 0 1 0 0 PCDHA8 56140 broad.mit.edu 37 5 140220969 140220969 + Silent SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:140220969C>G ENST00000531613.1 + 1 63 c.63C>G c.(61-63)ctC>ctG p.L21L PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA8_ENST00000378123.3_Silent_p.L21L|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron NM_018911.2 NP_061734.1 NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTCTGCTCCTCGCAGCCTGGA 0.567000 50 117 0 0 1 0 0 LGI2 55203 broad.mit.edu 37 4 25005550 25005550 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr4:25005550G>A ENST00000382114.4 - 8 1346 c.1161C>T c.(1159-1161)ctC>ctT p.L387L NM_018176.3 NP_060646.2 Q8N0V4 LGI2_HUMAN leucine-rich repeat LGI family, member 2 387 extracellular region breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2) 33 Breast(46;0.173) TGGACAGGATGAGATGCGATT 0.493000 42 123 0 0 1 0 0 CRABP1 1381 broad.mit.edu 37 15 78635840 78635840 + Splice_Site SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr15:78635840G>A ENST00000299529.6 + 3 354 c.e3-1 NM_004378.2 NP_004369.1 P29762 RABP1_HUMAN cellular retinoic acid binding protein 1 multicellular organismal development|signal transduction cytoplasm retinal binding|retinol binding|transporter activity breast(1)|lung(4)|skin(1) 6 Alitretinoin(DB00523)|Etretinate(DB00926) CCCGCCTGCAGAGTTTAGCCA 0.493000 8 46 0 0 1 0 0 PPM1A 5494 broad.mit.edu 37 14 60750112 60750112 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:60750112G>A ENST00000395076.4 + 2 1121 c.691G>A c.(691-693)Gat>Aat p.D231N PPM1A_ENST00000529574.1_Missense_Mutation_p.D231N|PPM1A_ENST00000325642.3_Missense_Mutation_p.D304N|PPM1A_ENST00000325658.3_Missense_Mutation_p.D231N NM_021003.4 NP_066283.1 P35813 PPM1A_HUMAN protein phosphatase, Mg2+/Mn2+ dependent, 1A 231 cell cycle arrest|insulin receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein dephosphorylation|Wnt receptor signaling pathway cytosol|nucleus|protein serine/threonine phosphatase complex magnesium ion binding|manganese ion binding|protein serine/threonine phosphatase activity|signal transducer activity cervix(1)|endometrium(1)|large_intestine(8)|lung(2)|skin(1)|upper_aerodigestive_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(108;0.046) TGAAGAAGATGATCAGTTCAT 0.413000 43 96 0 0 1 0 0 HIVEP1 3096 broad.mit.edu 37 6 12124515 12124515 + Nonsense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:12124515C>G ENST00000379388.2 + 4 4819 c.4487C>G c.(4486-4488)tCa>tGa p.S1496* NM_002114.2 NP_002105.2 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer binding protein 1 1496 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 90 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) GCAGAAACATCAAACTCCAGC 0.448000 21 71 0 0 1 0 0 GABRA4 2557 broad.mit.edu 37 4 46979555 46979555 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr4:46979555C>T ENST00000264318.3 - 4 1348 c.366G>A c.(364-366)atG>atA p.M122I NM_000809.3|NM_001204266.1|NM_001204267.1 NP_000800.2|NP_001191195.1|NP_001191196.1 P48169 GBRA4_HUMAN gamma-aminobutyric acid (GABA) A receptor, alpha 4 122 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) TCGTTACCATCATATTGTTCA 0.363000 16 43 0 0 1 0 0 NRD1 4898 broad.mit.edu 37 1 52258060 52258060 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:52258060C>G ENST00000354831.7 - 27 3205 c.3016G>C c.(3016-3018)Gag>Cag p.E1006Q NRD1_ENST00000539524.1_Missense_Mutation_p.E874Q|NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000352171.7_Missense_Mutation_p.E938Q NM_002525.2 NP_002516.2 O43847 NRDC_HUMAN nardilysin (N-arginine dibasic convertase) 937 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 ACAAGCAGCTCCATAAGCGTA 0.488000 12 63 0 0 1 0 0 RBM42 79171 broad.mit.edu 37 19 36120478 36120478 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:36120478C>T ENST00000262633.4 + 2 290 c.185C>T c.(184-186)gCg>gTg p.A62V RBM42_ENST00000586618.1_Missense_Mutation_p.A62V|RBM42_ENST00000589559.1_Missense_Mutation_p.A62V|RBM42_ENST00000360475.4_Missense_Mutation_p.A62V|RBM42_ENST00000592202.1_Missense_Mutation_p.A62V|RBM42_ENST00000588161.1_Missense_Mutation_p.A62V|RBM42_ENST00000589871.1_Missense_Mutation_p.A62V NM_024321.3 NP_077297.2 Q9BTD8 RBM42_HUMAN RNA binding motif protein 42 62 cytoplasm|nucleus nucleotide binding|RNA binding breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1) 21 all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) GCTGTGCCTGCGGTGCCCACT 0.587000 39 125 0 0 1 0 0 CACNA2D1 781 broad.mit.edu 37 7 81600022 81600022 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:81600022C>G ENST00000356860.3 - 27 2511 c.2173G>C c.(2173-2175)Gat>Cat p.D725H CACNA2D1_ENST00000535308.1_5'UTR|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.D737H NM_000722.2 NP_000713.2 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 1 737 voltage-gated calcium channel complex metal ion binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) ATCCCACCATCAGTCACAACA 0.353000 12 73 0 0 1 0 0 HOXB8 3218 broad.mit.edu 37 17 46691686 46691686 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:46691686C>G ENST00000239144.4 - 1 615 c.381G>C c.(379-381)caG>caC p.Q127H HOXB7_ENST00000567101.2_Intron|HOXB8_ENST00000576562.1_Missense_Mutation_p.Q127H NM_024016.3 NP_076921.1 P17481 HXB8_HUMAN homeobox B8 127 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|lung(8)|urinary_tract(2) 11 GCGACGGGCTCTGCTCGGAGC 0.706000 7 27 0 0 1 0 0 TMEM252 169693 broad.mit.edu 37 9 71155605 71155605 + Silent SNP C C T rs147451213 TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:71155605C>T ENST00000377311.3 - 1 178 c.126G>A c.(124-126)gcG>gcA p.A42A NM_153237.1 NP_694969.1 transmembrane protein 252 GCAAATAGGCCGCAATCAGGC 0.532000 4 46 0 0 1 0 0 DNAH2 146754 broad.mit.edu 37 17 7700820 7700820 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:7700820C>T ENST00000572933.1 + 52 9512 c.8052C>T c.(8050-8052)ctC>ctT p.L2684L DNAH2_ENST00000389173.2_Silent_p.L2684L Q9P225 DYH2_HUMAN dynein, axonemal, heavy chain 2 2684 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1) 189 all_cancers(10;4.66e-07)|Prostate(122;0.081) TTCATCATCTCTGTCCCAGCA 0.532000 47 183 0 0 1 0 0 CCDC138 165055 broad.mit.edu 37 2 109411132 109411132 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:109411132C>G ENST00000295124.4 + 5 591 c.531C>G c.(529-531)atC>atG p.I177M CCDC138_ENST00000412964.2_Missense_Mutation_p.I177M NM_144978.1 NP_659415.1 Q96M89 CC138_HUMAN coiled-coil domain containing 138 177 endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 14 CACATCAGATCAGTCAGATAT 0.373000 12 47 0 0 1 0 0 SLC25A41 284427 broad.mit.edu 37 19 6426469 6426469 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:6426469C>T ENST00000321510.6 - 7 1112 c.1044G>A c.(1042-1044)ctG>ctA p.L348L NM_173637.3 NP_775908.2 Q8N5S1 S2541_HUMAN solute carrier family 25, member 41 348 transmembrane transport integral to membrane|mitochondrial inner membrane binding large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1) 6 GTAAGACCTTCAGTAGCGTGG 0.602000 25 78 0 0 1 0 0 RRN3 54700 broad.mit.edu 37 16 15157071 15157071 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr16:15157071G>C ENST00000198767.6 - 17 1859 c.1776C>G c.(1774-1776)ttC>ttG p.F592L PDXDC1_ENST00000535621.2_Intron|RRN3_ENST00000429751.2_Missense_Mutation_p.F562L|RRN3_ENST00000327307.7_Missense_Mutation_p.F559L|RRN3_ENST00000563559.1_Missense_Mutation_p.F592L|RRN3_ENST00000540462.1_Missense_Mutation_p.F410L NM_018427.3 NP_060897.3 Q9NYV6 RRN3_HUMAN RRN3 RNA polymerase I transcription factor homolog (S. cerevisiae) 592 Interaction with EIF3L.|Interaction with TWISTNB. regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase I promoter nucleolus|nucleoplasm NS(2)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(2) 20 TGGGTTTCTTGAACTCCTGTA 0.418000 33 115 0 0 1 0 0 MAGI1 9223 broad.mit.edu 37 3 65464309 65464309 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:65464309C>T ENST00000330909.8 - 4 714 c.715G>A c.(715-717)Gag>Aag p.E239K MAGI1_ENST00000402939.2_Missense_Mutation_p.E239K|MAGI1_ENST00000483466.1_Missense_Mutation_p.E239K|MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000497477.2_Missense_Mutation_p.E239K NM_015520.1 NP_056335.1 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 1 239 Guanylate kinase-like. cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5) 51 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) TCCTCCTCCTCATTCTCCGCG 0.517000 26 109 0 0 1 0 0 NCSTN 23385 broad.mit.edu 37 1 160323984 160323984 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:160323984C>T ENST00000368063.1 + 12 1476 c.1196C>T c.(1195-1197)tCc>tTc p.S399F NCSTN_ENST00000535857.1_Missense_Mutation_p.S281F|NCSTN_ENST00000294785.5_Missense_Mutation_p.S419F|NCSTN_ENST00000459963.1_3'UTR|NCSTN_ENST00000392212.4_Missense_Mutation_p.S399F|NCSTN_ENST00000368065.4_Missense_Mutation_p.S161F Q92542 NICA_HUMAN nicastrin 419 amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome protein binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2) 34 all_cancers(52;8.15e-18)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.111) CCAAATCAGTCCCAGCCTCTC 0.552000 26 95 0 0 1 0 0 RNF168 165918 broad.mit.edu 37 3 196199034 196199034 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:196199034C>T ENST00000318037.3 - 6 1966 c.1372G>A c.(1372-1374)Gat>Aat p.D458N NM_152617.3 NP_689830.2 Q8IYW5 RN168_HUMAN ring finger protein 168, E3 ubiquitin protein ligase 458 double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation nucleus|ubiquitin ligase complex chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1) 20 all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00348) TGCTCTTTATCCACCTCCTTC 0.438000 47 118 0 0 1 0 0 EPB41L3 23136 broad.mit.edu 37 18 5397426 5397426 + Splice_Site SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr18:5397426C>G ENST00000341928.2 - 18 2813 c.e18-1 EPB41L3_ENST00000542652.2_Splice_Site|EPB41L3_ENST00000427684.2_Splice_Site|EPB41L3_ENST00000544123.1_Splice_Site|EPB41L3_ENST00000400111.3_Splice_Site|EPB41L3_ENST00000342933.3_Splice_Site|EPB41L3_ENST00000540638.2_Splice_Site|EPB41L3_ENST00000542146.1_Splice_Site NM_012307.2 NP_036439.2 Q9Y2J2 E41L3_HUMAN erythrocyte membrane protein band 4.1-like 3 cortical actin cytoskeleton organization cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane actin binding|structural molecule activity breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 TTTCCATTTTCTGCATGGGAA 0.517000 24 87 0 0 1 0 0 CHD2 1106 broad.mit.edu 37 15 93527668 93527668 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr15:93527668G>C ENST00000394196.4 + 25 4243 c.3175G>C c.(3175-3177)Gag>Cag p.E1059Q CHD2_ENST00000557381.1_Missense_Mutation_p.E1059Q NM_001271.3 NP_001262.3 O14647 CHD2_HUMAN chromodomain helicase DNA binding protein 2 1059 Glu-rich. regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 47 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) AGAGGAGGAAGAGCGGCAGAA 0.408000 4 26 0 0 1 0 0 ALS2CR11 151254 broad.mit.edu 37 2 202430471 202430471 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:202430471G>C ENST00000439140.1 - 9 1002 c.958C>G c.(958-960)Cag>Gag p.Q320E ALS2CR11_ENST00000286195.3_Missense_Mutation_p.Q320E|ALS2CR11_ENST00000439802.1_Missense_Mutation_p.Q320E|ALS2CR11_ENST00000450242.1_Missense_Mutation_p.Q320E NM_001168221.1 NP_001161693.1 Q53TS8 AL2SA_HUMAN amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11 320 NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3) 33 GGTTGTTGCTGAAGTTTTTCA 0.358000 4 12 0 0 1 0 0 IER3IP1 51124 broad.mit.edu 37 18 44682582 44682582 + Nonsense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr18:44682582G>C ENST00000256433.3 - 3 311 c.215C>G c.(214-216)tCa>tGa p.S72* IER3IP1_ENST00000588705.1_Nonsense_Mutation_p.S72* NM_016097.4 NP_057181.1 Q9Y5U9 IR3IP_HUMAN immediate early response 3 interacting protein 1 72 endoplasmic reticulum membrane|Golgi apparatus|integral to membrane large_intestine(1) 1 AATTGCAATTGAGTTTACTAT 0.303000 7 30 0 0 1 0 0 CIC 23152 broad.mit.edu 37 19 42797160 42797160 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:42797160G>A ENST00000572681.2 + 16 6311 c.6243G>A c.(6241-6243)ccG>ccA p.P2081P CIC_ENST00000160740.3_Silent_p.P1172P|CIC_ENST00000575354.2_Silent_p.P1174P Q96RK0 CIC_HUMAN capicua transcriptional repressor 1174 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 82 Prostate(69;0.00682) GGCCCAGCCCGAAGGCCCCCC 0.652000 """Mis, F, S""" oligodendroglioma 14 59 0 0 1 0 0 DCP1B 196513 broad.mit.edu 37 12 2113469 2113469 + Missense_Mutation SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:2113469G>T ENST00000280665.6 - 1 208 c.129C>A c.(127-129)ttC>ttA p.F43L DCP1B_ENST00000397173.4_5'UTR|DCP1B_ENST00000541700.1_5'UTR NM_152640.3 NP_689853.3 Q8IZD4 DCP1B_HUMAN decapping mRNA 1B 43 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytosol|nucleus hydrolase activity|protein binding NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1) 24 OV - Ovarian serous cystadenocarcinoma(31;0.00193) CCCGATGGCCGAAGGTGTACA 0.682000 11 43 4.68919e-08 4.87595e-08 1 1 0 CR2 1380 broad.mit.edu 37 1 207651346 207651346 + Nonsense_Mutation SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:207651346G>T ENST00000367057.3 + 16 3208 c.3019G>T c.(3019-3021)Gaa>Taa p.E1007* CR2_ENST00000367059.3_Nonsense_Mutation_p.E886*|CR2_ENST00000458541.2_Nonsense_Mutation_p.E921*|CR2_ENST00000367058.3_Nonsense_Mutation_p.E948* NM_001006658.2 NP_001006659.1 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) receptor 2 948 complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1) 69 GTATATGCTGGAAGGCAGTCC 0.522000 11 39 9.70103e-10 1.01433e-09 1 1 0 MAF 4094 broad.mit.edu 37 16 79633490 79633490 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr16:79633490C>T ENST00000393350.1 - 1 1121 c.310G>A c.(310-312)Gag>Aag p.E104K MAF_ENST00000326043.4_Missense_Mutation_p.E104K|MAF_ENST00000569649.1_Missense_Mutation_p.E104K NM_001031804.2 NP_001026974.1 O75444 MAF_HUMAN v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog 104 transcription from RNA polymerase II promoter chromatin|nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5) 10 all_epithelial(2;0.139)|Lung NSC(2;0.186)|Melanoma(2;0.211) UCEC - Uterine corpus endometrioid carcinoma (2;0.0178) CCCAGCGCCTCGGGGTTCAGC 0.706000 T IGH@ MM 4 20 0 0 1 0 0 RNF10 9921 broad.mit.edu 37 12 121002980 121002980 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:121002980G>C ENST00000325954.4 + 11 2232 c.1771G>C c.(1771-1773)Gag>Cag p.E591Q RNF10_ENST00000413266.2_Missense_Mutation_p.E596Q NM_014868.4 NP_055683.3 Q8N5U6 RNF10_HUMAN ring finger protein 10 591 negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus protein binding|transcription regulatory region DNA binding|zinc ion binding breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1) 27 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GGAAACCCTAGAGATGTTCTC 0.498000 31 84 0 0 1 0 0 LYAR 55646 broad.mit.edu 37 4 4276349 4276349 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr4:4276349C>T ENST00000343470.4 - 7 817 c.577G>A c.(577-579)Gaa>Aaa p.E193K LYAR_ENST00000452476.1_Missense_Mutation_p.E193K NM_017816.2 NP_060286 Q9NX58 LYAR_HUMAN Ly1 antibody reactive 193 Lys-rich. nucleolus metal ion binding|protein binding endometrium(2)|large_intestine(6)|liver(2)|lung(5)|ovary(1)|prostate(1) 17 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) tgccgttcttcctttctttct 0.428000 25 88 0 0 1 0 0 NHEJ1 79840 broad.mit.edu 37 2 220022967 220022967 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:220022967C>T ENST00000356853.5 - 2 251 c.118G>A c.(118-120)Gat>Aat p.D40N NHEJ1_ENST00000409720.1_Missense_Mutation_p.D40N NM_024782.2 NP_079058.1 Q9H9Q4 NHEJ1_HUMAN nonhomologous end-joining factor 1 40 B cell differentiation|central nervous system development|DNA recombination|double-strand break repair via nonhomologous end joining|positive regulation of ligase activity|response to ionizing radiation|T cell differentiation nonhomologous end joining complex|nucleus DNA binding|identical protein binding kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2) 12 Renal(207;0.0915) Epithelial(149;2.15e-06)|all cancers(144;0.000339)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0112) TGTTGAAGATCTGAAACCAAC 0.527000 Non-homologous end-joining 31 121 0 0 1 0 0 ZNF619 285267 broad.mit.edu 37 3 40529228 40529228 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:40529228C>T ENST00000447116.2 + 6 1654 c.1347C>T c.(1345-1347)ttC>ttT p.F449F ZNF619_ENST00000314686.5_Silent_p.F393F|ZNF619_ENST00000429348.2_Silent_p.F409F|ZNF619_ENST00000432264.2_Silent_p.F409F|ZNF619_ENST00000520737.1_3'UTR|ZNF619_ENST00000521353.1_Silent_p.F449F|ZNF619_ENST00000522736.1_Silent_p.F400F|ZNF619_ENST00000456778.1_Silent_p.F365F NM_001145082.2 NP_001138554.1 E9PCD9 E9PCD9_HUMAN zinc finger protein 619 449 regulation of transcription, DNA-dependent intracellular nucleic acid binding|zinc ion binding breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 21 KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661) GGAAAACTTTCAGCTGTAGCT 0.468000 21 79 0 0 1 0 0 PNPLA3 80339 broad.mit.edu 37 22 44342253 44342253 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr22:44342253G>A ENST00000216180.3 + 9 1610 c.1437G>A c.(1435-1437)aaG>aaA p.K479K PNPLA3_ENST00000423180.2_Silent_p.K475K NM_025225.2 NP_079501.2 Q9NST1 PLPL3_HUMAN patatin-like phospholipase domain containing 3 479 triglyceride biosynthetic process|triglyceride catabolic process integral to membrane diolein transacylation activity|mono-olein transacylation activity|phospholipase A2 activity|triglyceride lipase activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|prostate(1)|skin(1)|stomach(2) 19 Ovarian(80;0.024)|all_neural(38;0.0416) CACTAGAGAAGAGTCTGTGAG 0.512000 OREG0026623 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 29 96 0 0 1 0 0 PDZD2 23037 broad.mit.edu 37 5 32093126 32093126 + Nonsense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:32093126C>G ENST00000438447.1 + 21 8229 c.7841C>G c.(7840-7842)tCa>tGa p.S2614* PDZD2_ENST00000282493.3_Nonsense_Mutation_p.S2614* O15018 PDZD2_HUMAN PDZ domain containing 2 2614 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 AAAGCACAATCAGAGGTGAGT 0.537000 OREG0016544 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 80 0 0 1 0 0 MOV10 4343 broad.mit.edu 37 1 113242322 113242322 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:113242322G>A ENST00000369644.1 + 19 3460 c.2431G>A c.(2431-2433)Gaa>Aaa p.E811K MOV10_ENST00000413052.2_Missense_Mutation_p.E867K|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000357443.2_Missense_Mutation_p.E867K|MOV10_ENST00000369645.1_Missense_Mutation_p.E867K Q9HCE1 MOV10_HUMAN Mov10, Moloney leukemia virus 10, homolog (mouse) 867 mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body ATP binding|helicase activity|protein binding|RNA binding breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3) 38 Lung SC(450;0.246) all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114) OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24) TTCAGTAGAAGAATTCCAAGG 0.562000 36 142 0 0 1 0 0 FSTL4 23105 broad.mit.edu 37 5 132652162 132652162 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:132652162C>G ENST00000265342.7 - 5 841 c.592G>C c.(592-594)Gaa>Caa p.E198Q NM_015082.1 NP_055897.1 Q6MZW2 FSTL4_HUMAN follistatin-like 4 198 EF-hand. extracellular region calcium ion binding autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1) 23 all_cancers(142;0.244) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TGAGCCAGTTCGGAGCTGCTG 0.557000 17 73 0 0 1 0 0 OGFOD1 55239 broad.mit.edu 37 16 56485527 56485527 + Translation_Start_Site SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr16:56485527G>T ENST00000566157.1 + 1 126 c.3G>T c.(1-3)atG>atT p.M1I OGFOD1_ENST00000568397.1_Start_Codon_SNP_p.M1I NM_018233.3 NP_060703.3 Q8N543 OGFD1_HUMAN 2-oxoglutarate and iron-dependent oxygenase domain containing 1 1 iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1) 8 Vitamin C(DB00126) GGGAAGAGATGAATGGGAAGC 0.587000 42 177 5.20006e-24 5.54651e-24 1 1 0 SMTNL1 219537 broad.mit.edu 37 11 57310770 57310770 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:57310770G>A ENST00000457912.1 + 2 709 c.709G>A c.(709-711)Gat>Aat p.D237N SMTNL1_ENST00000399154.2_Missense_Mutation_p.D193N|SMTNL1_ENST00000527972.1_Missense_Mutation_p.D219N E9PPJ3 E9PPJ3_HUMAN smoothelin-like 1 219 endometrium(2)|large_intestine(1)|lung(4)|ovary(1) 8 CAAGGAGCCCGATGGGAAAGA 0.557000 23 45 0 0 1 0 0 CAMK2B 816 broad.mit.edu 37 7 44364973 44364973 + Silent SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:44364973G>C ENST00000395749.2 - 1 124 c.48C>G c.(46-48)ctC>ctG p.L16L CAMK2B_ENST00000346990.4_Silent_p.L16L|CAMK2B_ENST00000353625.4_Silent_p.L16L|CAMK2B_ENST00000395747.2_Silent_p.L16L|CAMK2B_ENST00000258682.6_Silent_p.L16L|CAMK2B_ENST00000350811.3_Silent_p.L16L|CAMK2B_ENST00000457475.1_Silent_p.L16L|CAMK2B_ENST00000358707.3_Silent_p.L16L|CAMK2B_ENST00000347193.4_Silent_p.L16L|CAMK2B_ENST00000502837.2_5'UTR|CAMK2B_ENST00000440254.2_Silent_p.L16L NM_001220.4 NP_001211.3 Q13554 KCC2B_HUMAN calcium/calmodulin-dependent protein kinase II beta 16 Protein kinase. interferon-gamma-mediated signaling pathway|synaptic transmission cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1) 18 TATCCTCGTAGAGCTGGTACT 0.756000 6 10 0 0 1 0 0 OSBP2 23762 broad.mit.edu 37 22 31302219 31302219 + Nonstop_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr22:31302219G>C ENST00000382310.3 + 12 2660 c.2624G>C c.(2623-2625)tGa>tCa p.*875S OSBP2_ENST00000407373.1_Missense_Mutation_p.E709Q|OSBP2_ENST00000403222.3_Missense_Mutation_p.E716Q|OSBP2_ENST00000535268.1_Missense_Mutation_p.E426Q|OSBP2_ENST00000437268.2_Missense_Mutation_p.E625Q|OSBP2_ENST00000401475.1_Missense_Mutation_p.E515Q|OSBP2_ENST00000446658.2_Missense_Mutation_p.E881Q|OSBP2_ENST00000332585.6_Missense_Mutation_p.E882Q Q969R2 OSBP2_HUMAN oxysterol binding protein 2 0 lipid transport membrane lipid binding breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1) 19 ACTGTGGTTTGAGAAGAGGCT 0.627000 34 81 0 0 1 0 0 KLK5 25818 broad.mit.edu 37 19 51452191 51452191 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:51452191G>A ENST00000336334.3 - 4 868 c.516C>T c.(514-516)atC>atT p.I172I KLK5_ENST00000593428.1_Silent_p.I172I|KLK5_ENST00000391809.2_Silent_p.I172I NM_012427.4 NP_036559 Q9Y337 KLK5_HUMAN kallikrein-related peptidase 5 172 Peptidase S1. epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis extracellular space protein binding|serine-type endopeptidase activity NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1) 15 all_neural(266;0.026) OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888) AGGAGACGTTGATGGGTCTGA 0.537000 22 85 0 0 1 0 0 PRKG2 5593 broad.mit.edu 37 4 82056420 82056420 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr4:82056420G>C ENST00000395578.1 - 14 1781 c.1665C>G c.(1663-1665)ttC>ttG p.F555L PRKG2_ENST00000418486.2_Missense_Mutation_p.F526L|PRKG2_ENST00000545647.1_Missense_Mutation_p.F135L|PRKG2_ENST00000509169.1_5'UTR|PRKG2_ENST00000264399.1_Missense_Mutation_p.F555L Q13237 KGP2_HUMAN protein kinase, cGMP-dependent, type II 555 Protein kinase. platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2) 37 AAGCAACGCAGAATTTGGAGG 0.408000 21 49 0 0 1 0 0 MGAT4C 25834 broad.mit.edu 37 12 86373294 86373294 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:86373294C>G ENST00000604798.1 - 8 2414 c.1210G>C c.(1210-1212)Gat>Cat p.D404H MGAT4C_ENST00000332156.1_Missense_Mutation_p.D404H|MGAT4C_ENST00000393205.2_Missense_Mutation_p.D433H|MGAT4C_ENST00000548651.1_Missense_Mutation_p.D404H|MGAT4C_ENST00000552808.2_Missense_Mutation_p.D404H|MGAT4C_ENST00000549405.2_Missense_Mutation_p.D404H Q9UBM8 MGT4C_HUMAN mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) 404 post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 41 TGCAAAATATCATTTTGCCGA 0.328000 14 28 0 0 1 0 0 MAT2A 4144 broad.mit.edu 37 2 85768794 85768794 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:85768794G>C ENST00000306434.3 + 4 454 c.331G>C c.(331-333)Gag>Cag p.E111Q MAT2A_ENST00000490878.1_3'UTR|MAT2A_ENST00000409017.1_Missense_Mutation_p.E48Q NM_005911.5 NP_005902.1 P31153 METK2_HUMAN methionine adenosyltransferase II, alpha 111 methylation|xenobiotic metabolic process cytosol ATP binding|metal ion binding|methionine adenosyltransferase activity breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 9 L-Methionine(DB00134)|S-Adenosylmethionine(DB00118) GGTAGCCTTGGAGCAACAGTC 0.408000 12 40 0 0 1 0 0 B3GAT1 27087 broad.mit.edu 37 11 134252640 134252640 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:134252640G>A ENST00000524765.1 - 4 5426 c.882C>T c.(880-882)ctC>ctT p.L294L B3GAT1_ENST00000312527.4_Silent_p.L294L|B3GAT1_ENST00000392580.1_Silent_p.L294L|B3GAT1_ENST00000537389.1_Silent_p.L307L Q9P2W7 B3GA1_HUMAN beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P) 294 carbohydrate metabolic process Golgi membrane|integral to membrane galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 19 all_hematologic(175;0.127) all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559) Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864) CCAGGTCGTTGAGGGTGACAA 0.572000 15 64 0 0 1 0 0 KIAA1199 57214 broad.mit.edu 37 15 81199101 81199101 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr15:81199101G>A ENST00000394685.3 + 13 1928 c.1509G>A c.(1507-1509)gaG>gaA p.E503E RP11-351M8.2_ENST00000560873.1_RNA|KIAA1199_ENST00000220244.3_Silent_p.E503E|RP11-351M8.1_ENST00000560560.1_Intron|KIAA1199_ENST00000356249.5_Silent_p.E503E Q8WUJ3 K1199_HUMAN KIAA1199 503 breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 TGATGGGGGAGATGGAGGACA 0.527000 19 62 0 0 1 0 0 CHD7 55636 broad.mit.edu 37 8 61773577 61773577 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:61773577G>C ENST00000423902.2 + 35 8202 c.7723G>C c.(7723-7725)Gaa>Caa p.E2575Q CHD7_ENST00000524602.1_Intron NM_017780.3 NP_060250.2 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 2575 central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3) 123 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) TATCAATCTTGAAGATGGGAC 0.458000 16 47 0 0 1 0 0 NGLY1 55768 broad.mit.edu 37 3 25773930 25773930 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:25773930C>T ENST00000428257.1 - 9 1358 c.1251G>A c.(1249-1251)caG>caA p.Q417Q NGLY1_ENST00000417874.2_Silent_p.Q393Q|NGLY1_ENST00000467224.1_Intron|NGLY1_ENST00000396649.3_Silent_p.Q435Q|NGLY1_ENST00000422724.2_3'UTR|NGLY1_ENST00000280700.5_Silent_p.Q435Q NM_001145293.1 NP_001138765.1 Q96IV0 NGLY1_HUMAN N-glycanase 1 435 glycoprotein catabolic process cytoplasm metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1) 18 CAATTATCCTCTGGAGAAGTT 0.398000 20 48 0 0 1 0 0 SNCB 6620 broad.mit.edu 37 5 176047844 176047844 + Splice_Site SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:176047844C>T ENST00000310112.3 - 7 623 c.373G>A c.(373-375)Gag>Aag p.E125K SNCB_ENST00000510387.1_Splice_Site_p.E125K|SNCB_ENST00000506696.1_Splice_Site_p.E125K|SNCB_ENST00000393693.2_Splice_Site_p.E125K NM_001001502.1 NP_001001502.1 Q16143 SYUB_HUMAN synuclein, beta 125 calcium ion binding|phospholipase inhibitor activity breast(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1) 10 all_cancers(89;0.00222)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142) Medulloblastoma(196;0.00498)|all_neural(177;0.0212) Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) TGATATTCCTCCTGCATCACC 0.622000 14 54 0 0 1 0 0 MAST3 23031 broad.mit.edu 37 19 18239752 18239752 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:18239752G>C ENST00000262811.6 + 12 1127 c.1127G>C c.(1126-1128)gGa>gCa p.G376A MAST3_ENST00000608648.1_3'UTR NM_015016.1 NP_055831.1 O60307 MAST3_HUMAN microtubule associated serine/threonine kinase 3 Protein kinase. ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1) 31 ATTAGCAACGGAGCCTATGGG 0.597000 18 79 0 0 1 0 0 SCN3A 6328 broad.mit.edu 37 2 166020150 166020150 + Silent SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:166020150C>G ENST00000283254.7 - 7 1139 c.672G>C c.(670-672)ctG>ctC p.L224L SCN3A_ENST00000360093.3_Intron|SCN3A_ENST00000409101.3_Intron NM_001081676.1|NM_006922.3 NP_001075145.1|NP_008853.3 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 224 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) AAATTGTTTTCAGTGCTCGGA 0.403000 12 22 0 0 1 0 0 HIPK4 147746 broad.mit.edu 37 19 40889768 40889768 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:40889768G>A ENST00000291823.2 - 2 1028 c.744C>T c.(742-744)ttC>ttT p.F248F NM_144685.3 NP_653286.2 Q8NE63 HIPK4_HUMAN homeodomain interacting protein kinase 4 248 Protein kinase. cytoplasm ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 20 Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292) TGCGCTTGAAGAAGTGGTGGG 0.627000 11 97 0 0 1 0 0 RTN3 10313 broad.mit.edu 37 11 63520033 63520033 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:63520033G>A ENST00000377819.5 + 5 2947 c.2793G>A c.(2791-2793)atG>atA p.M931I RTN3_ENST00000537981.1_Missense_Mutation_p.M135I|RTN3_ENST00000356000.3_Missense_Mutation_p.M154I|RTN3_ENST00000339997.4_Missense_Mutation_p.M912I|RTN3_ENST00000540798.1_Missense_Mutation_p.M819I|RTN3_ENST00000341307.2_Missense_Mutation_p.M135I|RTN3_ENST00000354497.4_Intron NM_001265589.1 NP_001252518.1 O95197 RTN3_HUMAN reticulon 3 931 Reticulon. apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1) 20 ATAATTACATGAATGCTGCCA 0.423000 39 117 0 0 1 0 0 CD300LD 100131439 broad.mit.edu 37 17 72584728 72584728 + Missense_Mutation SNP C C A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:72584728C>A ENST00000375352.1 - 2 381 c.301G>T c.(301-303)Gat>Tat p.D101Y C17orf77_ENST00000392620.1_Intron NM_001115152.1 NP_001108624.1 Q6UXZ3 CLM4_HUMAN CD300 molecule-like family member d 101 Ig-like V-type. integral to membrane|plasma membrane receptor activity large_intestine(1)|lung(2)|prostate(1)|stomach(1) 5 CTGTCAGCATCATCTCTTTTG 0.443000 14 155 9.31168e-06 9.53646e-06 1 1 0 FNDC3A 22862 broad.mit.edu 37 13 49710506 49710506 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr13:49710506G>C ENST00000492622.2 + 6 834 c.529G>C c.(529-531)Gaa>Caa p.E177Q FNDC3A_ENST00000398316.3_Missense_Mutation_p.E121Q|FNDC3A_ENST00000541916.1_Missense_Mutation_p.E177Q NM_001079673.1 NP_001073141.1 Q9Y2H6 FND3A_HUMAN fibronectin type III domain containing 3A 177 Golgi membrane|integral to membrane endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1) 41 all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19) KIRC - Kidney renal clear cell carcinoma(9;0.206) GBM - Glioblastoma multiforme(99;2.94e-09) CTTTAGAGATGAACGATCTAG 0.378000 12 40 0 0 1 0 0 F5 2153 broad.mit.edu 37 1 169528466 169528466 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:169528466C>G ENST00000367796.3 - 5 856 c.655G>C c.(655-657)Gat>Cat p.D219H F5_ENST00000546081.1_Missense_Mutation_p.D82H|F5_ENST00000367797.3_Missense_Mutation_p.D219H P12259 FA5_HUMAN coagulation factor V (proaccelerin, labile factor) 219 F5/8 type A 1.|Plastocyanin-like 2. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1) 128 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) TTGCTTTCATCAAACACAGCA 0.453000 20 74 0 0 1 0 0 DISP1 84976 broad.mit.edu 37 1 223163986 223163986 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:223163986G>A ENST00000284476.6 + 4 723 c.559G>A c.(559-561)Gac>Aac p.D187N DISP1_ENST00000495684.1_3'UTR NM_032890.3 NP_116279.2 Q96F81 DISP1_HUMAN dispatched homolog 1 (Drosophila) 187 diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway basolateral plasma membrane|integral to membrane hedgehog receptor activity|peptide transporter activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5) 69 GBM - Glioblastoma multiforme(131;0.102) CCTGATAGCCGACTGGCCGGT 0.498000 40 110 0 0 1 0 0 CATSPER3 347732 broad.mit.edu 37 5 134346119 134346119 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:134346119G>C ENST00000282611.6 + 7 1079 c.993G>C c.(991-993)ttG>ttC p.L331F NM_178019.2 NP_821138.1 Q86XQ3 CTSR3_HUMAN cation channel, sperm associated 3 331 cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane calcium channel activity|voltage-gated ion channel activity NS(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)|urinary_tract(1) 18 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) AGAAGACCTTGAGCCACACTG 0.463000 39 69 0 0 1 0 0 TCAIM 285343 broad.mit.edu 37 3 44442825 44442825 + Splice_Site SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:44442825G>C ENST00000342649.4 + 10 1676 c.1249G>C c.(1249-1251)Gag>Cag p.E417Q TCAIM_ENST00000417237.1_Splice_Site_p.E417Q NM_001282913.1|NM_173826.3 NP_001269842.1|NP_776187.2 T cell activation inhibitor, mitochondrial AAGAAAGGAAGAGTAAGTACT 0.398000 19 55 0 0 1 0 0 NDST1 3340 broad.mit.edu 37 5 149932879 149932879 + Silent SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:149932879C>G ENST00000261797.6 + 15 3136 c.2634C>G c.(2632-2634)ctC>ctG p.L878L NDST1_ENST00000521752.1_3'UTR|NDST1_ENST00000523767.1_Silent_p.L821L NM_001543.4 NP_001534.1 P52848 NDST1_HUMAN N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 878 Heparan sulfate N-sulfotransferase 1. heparan sulfate proteoglycan biosynthetic process|inflammatory response Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1) 34 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GAGAGGACCTCCAGAACACCA 0.567000 66 375 0 0 1 0 0 MME 4311 broad.mit.edu 37 3 154862187 154862187 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:154862187C>G ENST00000460393.1 + 14 1477 c.1357C>G c.(1357-1359)Cag>Gag p.Q453E MME_ENST00000462745.1_Missense_Mutation_p.Q453E|MME_ENST00000492661.1_Missense_Mutation_p.Q453E|MME_ENST00000493237.1_Missense_Mutation_p.Q453E|MME_ENST00000360490.2_Missense_Mutation_p.Q453E NM_000902.3|NM_007287.2 NP_000893.2|NP_009218.2 P08473 NEP_HUMAN membrane metallo-endopeptidase 453 cell-cell signaling|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity|protein binding central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 64 all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122) LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135) Candoxatril(DB00616) AGTTTTTATTCAGACTTTAGA 0.363000 8 32 0 0 1 0 0 CDK19 23097 broad.mit.edu 37 6 111136325 111136325 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:111136325G>A ENST00000368911.3 - 1 194 c.15C>T c.(13-15)ttC>ttT p.F5F CDK19_ENST00000497709.1_Intron|CDK19_ENST00000323817.3_Intron NM_015076.3 NP_055891.1 Q9BWU1 CDK19_HUMAN cyclin-dependent kinase 19 5 ATP binding|cyclin-dependent protein kinase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1) 22 GCTTCGCCTTGAAATCATAAT 0.652000 20 49 0 0 1 0 0 SORCS1 114815 broad.mit.edu 37 10 108378015 108378015 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:108378015C>T ENST00000263054.6 - 21 2819 c.2812G>A c.(2812-2814)Gag>Aag p.E938K SORCS1_ENST00000478809.2_5'UTR|SORCS1_ENST00000344440.6_Missense_Mutation_p.E938K|SORCS1_ENST00000369698.1_Missense_Mutation_p.E473K NM_001206570.1|NM_052918.4 NP_001193499.1|NP_443150.3 Q8WY21 SORC1_HUMAN sortilin-related VPS10 domain containing receptor 1 938 integral to membrane neuropeptide receptor activity|protein binding breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 127 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) ATGCTTCCCTCCAAGGTGATC 0.463000 15 51 0 0 1 0 0 CPED1 79974 broad.mit.edu 37 7 120764493 120764493 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:120764493G>A ENST00000310396.5 + 8 1494 c.1027G>A c.(1027-1029)Gaa>Aaa p.E343K CPED1_ENST00000450913.2_Missense_Mutation_p.E343K|CPED1_ENST00000423795.1_Missense_Mutation_p.E123K NM_024913.4 NP_079189.4 cadherin-like and PC-esterase domain containing 1 AGTATTCAGTGAAACATCTAC 0.343000 7 35 0 0 1 0 0 MAP3K6 9064 broad.mit.edu 37 1 27683551 27683551 + Missense_Mutation SNP C C A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:27683551C>A ENST00000374040.3 - 23 3549 c.3289G>T c.(3289-3291)Gac>Tac p.D1097Y MAP3K6_ENST00000357582.2_Missense_Mutation_p.D1105Y|MAP3K6_ENST00000493901.1_Missense_Mutation_p.D1105Y O95382 M3K6_HUMAN mitogen-activated protein kinase kinase kinase 6 1105 activation of JUN kinase activity ATP binding|magnesium ion binding|MAP kinase kinase kinase activity breast(4)|central_nervous_system(2)|lung(3)|ovary(1) 10 all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419) AGCAGTGAGTCCAGAACGAAC 0.652000 15 49 1.67942e-08 1.74952e-08 1 1 0 UTP20 27340 broad.mit.edu 37 12 101684562 101684562 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:101684562C>G ENST00000261637.4 + 8 961 c.787C>G c.(787-789)Caa>Gaa p.Q263E NM_014503.2 NP_055318.2 O75691 UTP20_HUMAN UTP20, small subunit (SSU) processome component, homolog (yeast) 263 endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation 90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome protein binding NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 AACAGAAACTCAACTACCATG 0.343000 17 58 0 0 1 0 0 ZNF184 7738 broad.mit.edu 37 6 27420524 27420524 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:27420524G>C ENST00000211936.6 - 6 1098 c.814C>G c.(814-816)Cat>Gat p.H272D ZNF184_ENST00000377419.1_Missense_Mutation_p.H272D NM_007149.2 NP_009080.2 Q99676 ZN184_HUMAN zinc finger protein 184 272 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 48 TCTCCAGTATGAATTCTTTGA 0.378000 17 85 0 0 1 0 0 KIAA0020 9933 broad.mit.edu 37 9 2837350 2837350 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:2837350C>T ENST00000397885.2 - 3 340 c.134G>A c.(133-135)gGa>gAa p.G45E NM_014878.4 NP_055693.4 Q15397 K0020_HUMAN KIAA0020 45 endoplasmic reticulum|nucleolus RNA binding NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1) 21 GBM - Glioblastoma multiforme(50;0.0319) GACTTTAGGTCCACCTTCTTT 0.373000 17 79 0 0 1 0 0 ATG4B 23192 broad.mit.edu 37 2 242594013 242594013 + Silent SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:242594013C>G ENST00000405546.3 + 5 838 c.336C>G c.(334-336)ctC>ctG p.L112L ATG4B_ENST00000474739.2_Silent_p.L98L|ATG4B_ENST00000402096.1_Silent_p.L38L|ATG4B_ENST00000396411.3_Silent_p.L38L|ATG4B_ENST00000404914.3_Silent_p.L112L Q9Y4P1 ATG4B_HUMAN autophagy related 4B, cysteine peptidase 112 autophagic vacuole assembly|protein transport|proteolysis cytoplasm cysteine-type peptidase activity|protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;2.44e-33)|all cancers(36;5.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.75e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0848) TCAGCGTCCTCAACGCATTCA 0.502000 5 10 0 0 1 0 0 HECTD1 25831 broad.mit.edu 37 14 31602844 31602844 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:31602844C>G ENST00000399332.1 - 23 4104 c.3616G>C c.(3616-3618)Gag>Cag p.E1206Q HECTD1_ENST00000553700.1_Missense_Mutation_p.E1206Q NM_015382.2 NP_056197.2 Q9ULT8 HECD1_HUMAN HECT domain containing E3 ubiquitin protein ligase 1 1206 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular metal ion binding|protein binding|ubiquitin-protein ligase activity breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 70 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00617) CCTTGTTTCTCATCCTTTGGT 0.363000 7 24 0 0 1 0 0 OR52A4P 390053 broad.mit.edu 37 11 5142389 5142389 + RNA SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:5142389G>A ENST00000498233.1 - 0 1009 breast(1)|endometrium(2)|kidney(1)|lung(12)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1) 22 Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675) Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2) GCTGTCGAGTGAATACTATAG 0.458000 12 39 0 0 1 0 0 ADAM18 8749 broad.mit.edu 37 8 39495221 39495221 + Splice_Site SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:39495221G>C ENST00000265707.5 + 9 871 c.826G>C c.(826-828)Gtt>Ctt p.V276L ADAM18_ENST00000379866.1_Splice_Site_p.V252L|ADAM18_ENST00000541111.1_5'UTR NM_014237.2 NP_055052.1 Q9Y3Q7 ADA18_HUMAN ADAM metallopeptidase domain 18 276 Peptidase M12B. cell differentiation|multicellular organismal development|proteolysis|spermatogenesis integral to membrane|membrane fraction metalloendopeptidase activity|zinc ion binding NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3) 71 all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112) LUSC - Lung squamous cell carcinoma(45;0.000199) ATACTTACTTGTGTAAGCACA 0.353000 10 18 0 0 1 0 0 MARCH7 64844 broad.mit.edu 37 2 160599728 160599728 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:160599728G>A ENST00000259050.4 + 3 432 c.310G>A c.(310-312)Ggg>Agg p.G104R MARCH7_ENST00000473749.1_3'UTR|MARCH7_ENST00000409175.1_Missense_Mutation_p.G104R|MARCH7_ENST00000409591.1_Missense_Mutation_p.G66R|MARCH7_ENST00000539065.1_Missense_Mutation_p.G104R NM_001282805.1|NM_001282807.1|NM_022826.2 NP_001269734.1|NP_001269736.1|NP_073737.1 Q9H992 MARH7_HUMAN membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase Ser-rich. ligase activity|zinc ion binding breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2) 18 TACCTCAGCTGGGAGAAATGT 0.403000 25 48 0 0 1 0 0 PILRB 29990 broad.mit.edu 37 7 99957061 99957061 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:99957061C>T ENST00000448382.1 + 8 1830 c.713C>T c.(712-714)tCt>tTt p.S238F PILRB_ENST00000452089.1_Silent_p.L186L|PILRB_ENST00000610247.1_Silent_p.L186L|PILRB_ENST00000609309.1_Silent_p.L186L|STAG3L5P-PVRIG2P-PILRB_ENST00000310771.4_RNA|PILRB_ENST00000444073.1_Silent_p.L186L Q9UKJ0 PILRB_HUMAN paired immunoglobin-like type 2 receptor beta 0 activation of transmembrane receptor protein tyrosine kinase activity integral to plasma membrane protein binding|receptor activity endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1) 13 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GCACCTAAGTCTGGACACTGC 0.562000 22 76 0 0 1 0 0 FTSJ3 117246 broad.mit.edu 37 17 61901514 61901514 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:61901514C>G ENST00000427159.2 - 12 1729 c.1084G>C c.(1084-1086)Gag>Cag p.E362Q NM_017647.3 NP_060117.3 Q8IY81 RRMJ3_HUMAN FtsJ homolog 3 (E. coli) 362 RNA methylation|rRNA processing nucleolus methyltransferase activity|nucleic acid binding breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1) 27 tcctcctcctcttcctcctcc 0.542000 51 177 0 0 1 0 0 ARSA 410 broad.mit.edu 37 22 51063878 51063878 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr22:51063878C>T ENST00000547307.1 - 8 1624 c.1219G>A c.(1219-1221)Gat>Aat p.D407N ARSA_ENST00000216124.5_Missense_Mutation_p.D409N|ARSA_ENST00000547805.1_Missense_Mutation_p.D407N|ARSA_ENST00000395621.3_Missense_Mutation_p.D409N|ARSA_ENST00000453344.2_Missense_Mutation_p.D323N|ARSA_ENST00000356098.5_Missense_Mutation_p.D409N|ARSA_ENST00000395619.3_Missense_Mutation_p.D409N P15289 ARSA_HUMAN arylsulfatase A 407 Missing (in MLD; late-infantile-onset). lysosome arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1) 9 all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|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) Micafungin(DB01141) GCAGTGGTATCACTGTGGGCA 0.642000 85 71 0 0 1 0 0 SMC4 10051 broad.mit.edu 37 3 160119741 160119741 + Missense_Mutation SNP G G A rs141249752 byFrequency TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:160119741G>A ENST00000357388.3 + 3 629 c.178G>A c.(178-180)Gag>Aag p.E60K SMC4_ENST00000462787.1_Missense_Mutation_p.E60K|SMC4_ENST00000344722.5_Missense_Mutation_p.E60K|SMC4_ENST00000360111.2_Missense_Mutation_p.E60K|SMC4_ENST00000469762.1_Intron|RP11-432B6.3_ENST00000483754.1_Intron NM_001002800.1 NP_001002800.1 Q9NTJ3 SMC4_HUMAN structural maintenance of chromosomes 4 60 cell division|mitotic chromosome condensation condensin complex|cytoplasm|nucleus ATP binding|protein heterodimerization activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523) AAGTTTAGAAGAGATTTTGAA 0.448000 33 111 0 0 1 0 0 ZFP36 7538 broad.mit.edu 37 19 39899334 39899334 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:39899334G>A ENST00000597629.1 + 2 1068 c.994G>A c.(994-996)Gag>Aag p.E332K ZFP36_ENST00000248673.3_Missense_Mutation_p.E326K P26651 TTP_HUMAN ZFP36 ring finger protein 326 positive regulation of nuclear-transcribed mRNA poly(A) tail shortening cytosol|nucleus AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding large_intestine(1)|lung(5)|pancreas(1) 7 all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) CTCTGTTTCTGAGTGACAAAG 0.617000 16 70 0 0 1 0 0 TCEB3B 51224 broad.mit.edu 37 18 44561352 44561352 + Missense_Mutation SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr18:44561352G>T ENST00000332567.4 - 1 636 c.284C>A c.(283-285)tCc>tAc p.S95Y KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron NM_016427.2 NP_057511.2 Q8IYF1 ELOA2_HUMAN transcription elongation factor B polypeptide 3B (elongin A2) 95 regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter integral to membrane|nucleus DNA binding breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 GCGCTGTCGGGAAGCGCTCTC 0.657000 22 67 1.40151e-16 1.48369e-16 1 1 0 SGK223 157285 broad.mit.edu 37 8 8176545 8176545 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:8176545C>T ENST00000520004.1 - 6 3604 c.3340G>A c.(3340-3342)Gag>Aag p.E1114K SGK223_ENST00000330777.4_Missense_Mutation_p.E1114K Q86YV5 SG223_HUMAN 1114 Protein kinase. ATP binding|non-membrane spanning protein tyrosine kinase activity TCGTACGCCTCGGGCTCCGCC 0.672000 78 203 0 0 1 0 0 SCAF1 58506 broad.mit.edu 37 19 50155667 50155667 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:50155667C>G ENST00000360565.3 + 7 2145 c.2021C>G c.(2020-2022)tCg>tGg p.S674W NM_021228.2 NP_067051.2 Q9H7N4 SFR19_HUMAN SR-related CTD-associated factor 1 674 Ser-rich. mRNA processing|RNA splicing nucleus RNA binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 20 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204) GGCTCCACCTCGTGTGGTGAC 0.706000 11 23 0 0 1 0 0 FMR1NB 158521 broad.mit.edu 37 X 147088242 147088242 + Nonsense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chrX:147088242C>T ENST00000370467.3 + 3 492 c.418C>T c.(418-420)Cag>Tag p.Q140* NM_152578.2 NP_689791.1 Q8N0W7 FMR1N_HUMAN fragile X mental retardation 1 neighbor 140 P-type. integral to membrane breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1) 25 Acute lymphoblastic leukemia(192;6.56e-05) GAGGGAAAATCAGGTGGCAAA 0.378000 29 30 0 0 1 0 0 ZMYM5 9205 broad.mit.edu 37 13 20413042 20413042 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr13:20413042G>A ENST00000337963.4 - 5 934 c.670C>T c.(670-672)Cgt>Tgt p.R224C ZMYM5_ENST00000382907.4_Intron|ZMYM5_ENST00000382905.4_Missense_Mutation_p.R224C NM_001142684.1 NP_001136156.1 Q9UJ78 ZMYM5_HUMAN zinc finger, MYM-type 5 224 nucleus zinc ion binding kidney(1)|large_intestine(5)|lung(9) 15 all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431) TTCTGCTTACGAAGTAAGGCC 0.423000 48 123 0 0 1 0 0 PPOX 5498 broad.mit.edu 37 1 161137269 161137269 + Missense_Mutation SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:161137269G>T ENST00000367999.4 + 4 597 c.331G>T c.(331-333)Ggc>Tgc p.G111C PPOX_ENST00000535223.1_Intron|PPOX_ENST00000495483.1_3'UTR|PPOX_ENST00000544598.1_Intron|PPOX_ENST00000352210.5_Missense_Mutation_p.G111C|PPOX_ENST00000432542.2_Intron NM_001122764.1 NP_001116236.1 P50336 PPOX_HUMAN protoporphyrinogen oxidase 111 heme biosynthetic process intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3) 15 all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00275) CCTACCCACTGGCCTCAGGTA 0.507000 8 44 0.000157383 0.000159737 1 1 0 TNXB 7148 broad.mit.edu 37 6 32010104 32010104 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:32010104G>A ENST00000375244.3 - 41 12447 c.12246C>T c.(12244-12246)ttC>ttT p.F4082F TNXB_ENST00000375247.2_Silent_p.F4080F|TNXB_ENST00000451343.1_Silent_p.F511F P22105 TENX_HUMAN tenascin XB 4127 Fibrinogen C-terminal. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 AGTCCCTCCAGAAGTCTGTCT 0.612000 9 45 0 0 1 0 0 MMRN2 79812 broad.mit.edu 37 10 88704122 88704122 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:88704122G>A ENST00000372027.5 - 5 873 c.552C>T c.(550-552)ctC>ctT p.L184L MMRN2_ENST00000488950.1_Intron NM_024756.2 NP_079032.2 Q9H8L6 MMRN2_HUMAN multimerin 2 extracellular space breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1) 19 CATCATTCTGGAGATCTCCCA 0.532000 52 136 0 0 1 0 0 RUNDC1 146923 broad.mit.edu 37 17 41143537 41143537 + Missense_Mutation SNP A A G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:41143537A>G ENST00000361677.1 + 5 1658 c.1646A>G c.(1645-1647)cAg>cGg p.Q549R NM_173079.2 NP_775102 Q96C34 RUND1_HUMAN RUN domain containing 1 549 RUN. breast(1)|large_intestine(2)|lung(4)|prostate(1) 8 Breast(137;0.00499) BRCA - Breast invasive adenocarcinoma(366;0.161) CTGAATGAGCAGCGTCTGGTG 0.547000 17 57 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9059942 9059942 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:9059942G>A ENST00000397910.4 - 3 27707 c.27504C>T c.(27502-27504)caC>caT p.H9168H NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 9170 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GCGAAGAAGAGTGGATGCTGT 0.517000 10 54 0 0 1 0 0 TUBA3C 7278 broad.mit.edu 37 13 19748188 19748188 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr13:19748188G>A ENST00000400113.3 - 5 1272 c.1168C>T c.(1168-1170)Cgc>Tgc p.R390C NM_006001.2 NP_005992.1 Q13748 TBA3C_HUMAN tubulin, alpha 3c 390 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1) 72 all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162) all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108) TGGTCCAGGCGAGCCCAGGCC 0.647000 44 175 0 0 1 0 0 LINC00173 100287569 broad.mit.edu 37 12 116972770 116972770 + RNA SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:116972770G>A ENST00000480237.1 + 0 1041 NR_027345.1 acaggtcccagaatcggggtg 0.562000 11 29 0 0 1 0 0 CABP1 9478 broad.mit.edu 37 12 121098025 121098025 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:121098025G>C ENST00000453000.1 + 3 1032 c.520G>C c.(520-522)Gac>Cac p.D174H CABP1_ENST00000351200.2_Missense_Mutation_p.D35H|CABP1_ENST00000316803.3_Missense_Mutation_p.D238H|CABP1_ENST00000288616.3_Missense_Mutation_p.D95H Q9NZU7 CABP1_HUMAN calcium binding protein 1 238 cell cortex|cell junction|Golgi apparatus|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane calcium ion binding|calcium-dependent protein binding|enzyme inhibitor activity|protein binding central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6) 9 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) CAGAGAATTCGACAAGGACAA 0.582000 27 76 0 0 1 0 0 CASP9 842 broad.mit.edu 37 1 15844829 15844829 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:15844829C>T ENST00000546424.1 - 2 438 c.194G>A c.(193-195)cGa>cAa p.R65Q CASP9_ENST00000375890.4_5'UTR|CASP9_ENST00000333868.5_Missense_Mutation_p.R65Q|CASP9_ENST00000469637.1_5'UTR|CASP9_ENST00000348549.5_Missense_Mutation_p.R65Q P55211 CASP9_HUMAN caspase 9, apoptosis-related cysteine peptidase 65 CARD. activation of caspase activity by cytochrome c|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling cytosol cysteine-type endopeptidase activity|enzyme activator activity|protein binding p.R65P(1)|p.R65L(1) central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|stomach(1) 18 Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655) CTGACTCCCTCGAGTCTCCAG 0.527000 25 80 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132502203 132502203 + Silent SNP G G A rs141645142 TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:132502203G>A ENST00000333577.4 + 21 4264 c.4155G>A c.(4153-4155)gcG>gcA p.A1385A EP400_ENST00000330386.6_Silent_p.A1349A|EP400_ENST00000389561.2_Silent_p.A1349A|EP400_ENST00000389562.2_Silent_p.A1348A|EP400_ENST00000332482.4_Silent_p.A1312A Q96L91 EP400_HUMAN E1A binding protein p400 1385 histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear speck ATP binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 161 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.198) OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06) CCTACGTGGCGGGGCCACTGG 0.582000 22 77 0 0 1 0 0 POGZ 23126 broad.mit.edu 37 1 151378586 151378586 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:151378586C>T ENST00000271715.2 - 19 3239 c.2925G>A c.(2923-2925)gtG>gtA p.V975V POGZ_ENST00000392723.1_Silent_p.V922V|POGZ_ENST00000361398.3_Silent_p.V922V|POGZ_ENST00000491586.1_Silent_p.V931V|POGZ_ENST00000531094.1_Silent_p.V913V|POGZ_ENST00000409503.1_Silent_p.V966V|POGZ_ENST00000540984.1_Silent_p.V337V|POGZ_ENST00000368863.2_Silent_p.V880V NM_001194937.1|NM_015100.3 NP_001181866.1|NP_055915.2 Q7Z3K3 POGZ_HUMAN pogo transposable element with ZNF domain 975 cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent cytoplasm|nuclear chromatin DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 47 Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181) GAAGCTTCTTCACAGACAGCT 0.517000 35 112 0 0 1 0 0 ANAPC4 29945 broad.mit.edu 37 4 25419344 25419344 + Nonsense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr4:25419344C>T ENST00000315368.3 + 28 2324 c.2182C>T c.(2182-2184)Cga>Tga p.R728* ANAPC4_ENST00000510092.1_Nonsense_Mutation_p.R729* NM_013367.2 NP_037499.2 Q9UJX5 APC4_HUMAN anaphase promoting complex subunit 4 728 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm protein phosphatase binding|ubiquitin-protein ligase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2) 27 Breast(46;0.0503) GAATGGTTTTCGAAAAGTGTC 0.398000 30 89 0 0 1 0 0 CLN6 54982 broad.mit.edu 37 15 68503654 68503654 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr15:68503654G>A ENST00000564752.1 - 5 639 c.515C>T c.(514-516)tCg>tTg p.S172L CLN6_ENST00000249806.5_Silent_p.I163I|CLN6_ENST00000565471.1_Intron|CLN6_ENST00000566347.1_Silent_p.I100I|RP11-315D16.2_ENST00000562767.1_Intron|CLN6_ENST00000418702.2_Intron|CLN6_ENST00000538696.1_Silent_p.I195I Q9NWW5 CLN6_HUMAN ceroid-lipofuscinosis, neuronal 6, late infantile, variant 0 cell death|cholesterol metabolic process|ganglioside metabolic process|glycosaminoglycan metabolic process|lysosomal lumen acidification|positive regulation of proteolysis|protein catabolic process endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane protein homodimerization activity large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 7 CAAAGGAGTCGATCTGAGGGA 0.602000 28 99 0 0 1 0 0 DENND2D 79961 broad.mit.edu 37 1 111734819 111734819 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:111734819G>A ENST00000357640.4 - 8 1144 c.915C>T c.(913-915)ttC>ttT p.F305F DENND2D_ENST00000369752.5_Silent_p.F302F NM_024901.3 NP_079177.2 Q9H6A0 DEN2D_HUMAN DENN/MADD domain containing 2D 305 DENN. breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1) 25 all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499) Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14) CTCCAACCATGAAGGGGGTGG 0.572000 17 52 0 0 1 0 0 LAMA2 3908 broad.mit.edu 37 6 129636636 129636636 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:129636636G>A ENST00000421865.2 + 25 3620 c.3571G>A c.(3571-3573)Gag>Aag p.E1191K NM_000426.3|NM_001079823.1 NP_000417|NP_001073291.1 P24043 LAMA2_HUMAN laminin, alpha 2 1191 Laminin IV type A 2. cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2) 194 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) TCTGAAGGCTGAGCAGACCAT 0.463000 22 71 0 0 1 0 0 CPNE9 151835 broad.mit.edu 37 3 9754751 9754751 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:9754751G>A ENST00000383832.3 + 10 828 c.638G>A c.(637-639)gGa>gAa p.G213E CPNE9_ENST00000383831.3_Missense_Mutation_p.G213E NM_153635.2 NP_705899.2 Q8IYJ1 CPNE9_HUMAN copine family member IX 213 C2 2. breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 16 Medulloblastoma(99;0.227) CTGTGCAATGGAGACTATGAC 0.527000 11 33 0 0 1 0 0 UTY 7404 broad.mit.edu 37 Y 15478205 15478205 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chrY:15478205G>A ENST00000331397.4 - 10 1815 c.808C>T c.(808-810)Ctc>Ttc p.L270F UTY_ENST00000540140.1_Missense_Mutation_p.L270F|UTY_ENST00000329134.5_Missense_Mutation_p.L270F|UTY_ENST00000537580.1_Missense_Mutation_p.L270F|UTY_ENST00000545955.1_Missense_Mutation_p.L270F|UTY_ENST00000362096.4_Missense_Mutation_p.L270F|UTY_ENST00000382896.4_Missense_Mutation_p.L270F|UTY_ENST00000538878.1_Missense_Mutation_p.L270F NM_001258267.1|NM_007125.4 NP_001245196.1|NP_009056.3 O14607 UTY_HUMAN ubiquitously transcribed tetratricopeptide repeat containing, Y-linked 270 chromatin modification nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen kidney(1)|lung(6) 7 GACTTTTGGAGATACTGAATA 0.368000 12 22 0 0 1 0 0 ADAMTS18 170692 broad.mit.edu 37 16 77353980 77353980 + Silent SNP C C T rs149346461 byFrequency TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr16:77353980C>T ENST00000282849.5 - 16 2716 c.2298G>A c.(2296-2298)ccG>ccA p.P766P NM_199355.2 NP_955387.1 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 18 766 Spacer. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 118 TGAGGACCACCGGATAATATT 0.473000 6 67 0 0 1 0 0 MGAM 8972 broad.mit.edu 37 7 141721466 141721466 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:141721466G>C ENST00000475668.2 + 6 693 c.639G>C c.(637-639)ttG>ttC p.L213F MGAM_ENST00000549489.2_Missense_Mutation_p.L213F O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 213 Maltase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) CTGCTTCTTTGACCTACCAAG 0.428000 16 64 0 0 1 0 0 FER1L6 654463 broad.mit.edu 37 8 124968267 124968267 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:124968267G>C ENST00000522917.1 + 2 235 c.29G>C c.(28-30)aGa>aCa p.R10T FER1L6_ENST00000399018.1_Missense_Mutation_p.R10T NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 10 integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) AAGAAGAAGAGAAATAAGGCA 0.463000 9 23 0 0 1 0 0 ARFGAP3 26286 broad.mit.edu 37 22 43204836 43204836 + Missense_Mutation SNP C C A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr22:43204836C>A ENST00000263245.5 - 13 1476 c.1257G>T c.(1255-1257)aaG>aaT p.K419N ARFGAP3_ENST00000437119.2_Missense_Mutation_p.K375N|ARFGAP3_ENST00000429508.2_Missense_Mutation_p.K347N NM_001142293.1|NM_014570.4 NP_001135765.1|NP_055385.3 Q9NP61 ARFG3_HUMAN ADP-ribosylation factor GTPase activating protein 3 419 intracellular protein transport|protein secretion|regulation of ARF GTPase activity|vesicle-mediated transport cytosol|Golgi membrane ARF GTPase activator activity|protein transporter activity|zinc ion binding breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1) 11 TGCCAAACTTCTTCTGGGCCT 0.423000 41 109 4.16155e-14 4.38642e-14 1 1 0 HSPD1 3329 broad.mit.edu 37 2 198353941 198353941 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:198353941G>A ENST00000388968.3 - 9 1267 c.1000C>T c.(1000-1002)Ctt>Ttt p.L334F HSPD1_ENST00000345042.2_Missense_Mutation_p.L334F NM_002156.4 NP_002147.2 P10809 CH60_HUMAN heat shock 60kDa protein 1 (chaperonin) 334 'de novo' protein folding|activation of caspase activity|B cell cytokine production|B cell proliferation|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|MyD88-dependent toll-like receptor signaling pathway|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|protein maturation|protein refolding|protein stabilization|response to unfolded protein|T cell activation cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule ATP binding|ATPase activity|cell surface binding|chaperone binding|DNA replication origin binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1) 17 Epithelial(96;0.225) ACGTCTTCAAGATTCAGGGTC 0.398000 19 42 0 0 1 0 0 SSPO 23145 broad.mit.edu 37 7 149503891 149503891 + RNA SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:149503891C>G ENST00000378016.2 + 0 8719 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) TCCTTGCCCTCGGCTATGCCT 0.612000 4 12 0 0 1 0 0 AGAP6 414189 broad.mit.edu 37 10 51769497 51769497 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:51769497G>A ENST00000374056.4 + 7 1941 c.1543G>A c.(1543-1545)Gac>Aac p.D515N AGAP6_ENST00000412531.3_Missense_Mutation_p.D538N C9IYN2 C9IYN2_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 6 538 regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2) 29 TATTGTCAATGACCTAGCCAA 0.537000 63 192 0 0 1 0 0 NKIRAS2 28511 broad.mit.edu 37 17 40175730 40175730 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:40175730C>G ENST00000307641.5 + 4 1016 c.395C>G c.(394-396)cCa>cGa p.P132R NKIRAS2_ENST00000393884.2_Missense_Mutation_p.P130R|NKIRAS2_ENST00000462043.2_3'UTR|NKIRAS2_ENST00000393885.4_Missense_Mutation_p.P132R|NKIRAS2_ENST00000316082.4_Missense_Mutation_p.P170R|NKIRAS2_ENST00000393880.1_Missense_Mutation_p.P132R|NKIRAS2_ENST00000479407.1_3'UTR|NKIRAS2_ENST00000449471.4_Missense_Mutation_p.P76R|NKIRAS2_ENST00000393881.3_Missense_Mutation_p.P132R NM_001001349.2 NP_001001349.1 Q9NYR9 KBRS2_HUMAN NFKB inhibitor interacting Ras-like 2 132 Small GTPase-like. I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction cytoplasm GTP binding|GTPase activity large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1) 9 all_cancers(22;1.1e-05)|Breast(137;0.000143)|all_epithelial(22;0.000319) CGTGTAGACCCAGATGTGGCT 0.587000 14 87 0 0 1 0 0 ARPC4 10093 broad.mit.edu 37 3 9843424 9843424 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:9843424G>A ENST00000397261.3 + 4 878 c.314G>A c.(313-315)cGa>cAa p.R105Q ARPC4_ENST00000287613.7_Missense_Mutation_p.R15Q|ARPC4-TTLL3_ENST00000397256.1_Missense_Mutation_p.R105Q|ARPC4_ENST00000498623.2_Missense_Mutation_p.R15Q|ARPC4_ENST00000433034.1_Missense_Mutation_p.R124Q NM_005718.4 NP_005709.1 actin related protein 2/3 complex, subunit 4, 20kDa breast(1)|lung(1) 2 Medulloblastoma(99;0.227) TTTATCCTTCGAAGGAAGCCT 0.498000 3 20 0 0 1 0 0 PHF3 23469 broad.mit.edu 37 6 64389977 64389977 + Silent SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:64389977G>C ENST00000262043.3 + 3 661 c.321G>C c.(319-321)ctG>ctC p.L107L PHF3_ENST00000393387.1_Silent_p.L107L|PHF3_ENST00000509330.1_Silent_p.L107L Q92576 PHF3_HUMAN PHD finger protein 3 107 multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6) 75 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) AAGAAGAACTGATTTTACCTA 0.353000 16 77 0 0 1 0 0 DMGDH 29958 broad.mit.edu 37 5 78322343 78322343 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:78322343G>A ENST00000255189.3 - 13 2122 c.2094C>T c.(2092-2094)atC>atT p.I698I DMGDH_ENST00000540686.1_Silent_p.I318I|DMGDH_ENST00000380311.4_Silent_p.I497I NM_013391.2 NP_037523.2 Q9UI17 M2GD_HUMAN dimethylglycine dehydrogenase 698 choline metabolic process|glycine catabolic process mitochondrial matrix aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1) 34 all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192) OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35) CTGCATTCATGATAGCGTCAT 0.512000 22 74 0 0 1 0 0 RALGDS 5900 broad.mit.edu 37 9 136004577 136004577 + Silent SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:136004577G>C ENST00000393157.3 - 1 211 c.129C>G c.(127-129)ctC>ctG p.L43L RALGDS_ENST00000542690.1_Intron|RALGDS_ENST00000393160.3_Intron|RALGDS_ENST00000372062.3_Intron NM_001271775.1 NP_001258704.1 Q12967 GNDS_HUMAN ral guanine nucleotide dissociation stimulator 282 nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol Ral guanyl-nucleotide exchange factor activity endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2) 10 OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05) TCGGGCTTTGGAGAGCGGCAC 0.687000 T CIITA """PMBL, Hodgkin Lymphona, """ 4 19 0 0 1 0 0 MTMR10 54893 broad.mit.edu 37 15 31239356 31239356 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr15:31239356G>A ENST00000435680.1 - 14 1622 c.1525C>T c.(1525-1527)Cac>Tac p.H509Y MTMR10_ENST00000563714.1_Missense_Mutation_p.H427Y|MTMR10_ENST00000314404.8_Missense_Mutation_p.H261Y|MTMR10_ENST00000425768.1_3'UTR NM_017762.2 NP_060232.2 Q9NXD2 MTMRA_HUMAN myotubularin related protein 10 509 Myotubularin phosphatase. phosphatase activity autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1) 9 all_lung(180;2.81e-11) all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174) ACTCGCTGGTGAGGGGAGTTG 0.473000 31 109 0 0 1 0 0 BIRC6 57448 broad.mit.edu 37 2 32620589 32620589 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:32620589C>G ENST00000421745.2 + 6 1096 c.962C>G c.(961-963)tCt>tGt p.S321C NM_016252.3 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat containing 6 321 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5) 172 Acute lymphoblastic leukemia(172;0.155) CCTGCCTCATCTGGAGATGAT 0.323000 35 83 0 0 1 0 0 HECTD1 25831 broad.mit.edu 37 14 31602831 31602831 + Missense_Mutation SNP C C A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:31602831C>A ENST00000399332.1 - 23 4117 c.3629G>T c.(3628-3630)tGg>tTg p.W1210L HECTD1_ENST00000553700.1_Missense_Mutation_p.W1210L NM_015382.2 NP_056197.2 Q9ULT8 HECD1_HUMAN HECT domain containing E3 ubiquitin protein ligase 1 1210 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular metal ion binding|protein binding|ubiquitin-protein ligase activity breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 70 Hepatocellular(127;0.0877)|Breast(36;0.176) LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00617) CACATGTCTCCACCCTTGTTT 0.363000 8 38 0.00307968 0.00311084 1 1 0 CADPS 8618 broad.mit.edu 37 3 62501761 62501761 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:62501761G>A ENST00000383710.4 - 16 2903 c.2554C>T c.(2554-2556)Cgg>Tgg p.R852W CADPS_ENST00000357948.3_Missense_Mutation_p.R835W|CADPS_ENST00000283269.9_Missense_Mutation_p.R852W NM_003716.3 NP_003707.2 Q9ULU8 CAPS1_HUMAN Ca++-dependent secretion activator 852 Interaction with DRD2. exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|cytosol|synapse lipid binding|metal ion binding breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2) 92 Lung SC(41;0.0452) BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334) TCTGAGAGCCGAGAATAGTTG 0.433000 22 61 0 0 1 0 0 NYNRIN 57523 broad.mit.edu 37 14 24880396 24880396 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:24880396G>A ENST00000382554.3 + 5 2847 c.2529G>A c.(2527-2529)aaG>aaA p.K843K NM_025081.2 NP_079357.2 Q9P2P1 NYNRI_HUMAN NYN domain and retroviral integrase containing 843 DNA integration integral to membrane DNA binding breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 56 AGCTGAAGAAGAACCGGAGGG 0.592000 OREG0022626 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 40 144 0 0 1 0 0 ATOH7 220202 broad.mit.edu 37 10 69991290 69991290 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:69991290C>T ENST00000373673.3 - 1 581 c.145G>A c.(145-147)Gag>Aag p.E49K NM_145178.3 NP_660161.1 Q8N100 ATOH7_HUMAN atonal homolog 7 (Drosophila) 49 cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding CGGCGGCGCTCGCGCGCGTTG 0.736000 7 22 0 0 1 0 0 GRAMD1A 57655 broad.mit.edu 37 19 35517044 35517044 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:35517044G>A ENST00000599564.1 + 20 2494 c.2423G>A c.(2422-2424)tGa>tAa p.*808* GRAMD1A_ENST00000317991.5_Silent_p.*725*|GRAMD1A_ENST00000411896.2_Silent_p.*714*|GRAMD1A_ENST00000504615.2_Silent_p.*487* Q96CP6 GRM1A_HUMAN GRAM domain containing 1A 0 integral to membrane NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1) 19 all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) AGCTTTTCCTGAGGACCCCGG 0.637000 19 62 0 0 1 0 0 ETV6 2120 broad.mit.edu 37 12 12022357 12022357 + Splice_Site SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:12022357G>T ENST00000396373.4 + 5 737 c.e5-1 NM_001987.4 NP_001978.1 P41212 ETV6_HUMAN ets variant 6 cytoplasm|nucleolus protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238) breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36) CTGCTCCACAGATAACTGTGT 0.552000 T """NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5""" """congenital fibrosarcoma, multiple leukemia and lymphoma, secretory breast, MDS, ALL""" 38 130 4.14481e-20 4.40711e-20 1 1 0 SLC6A7 6534 broad.mit.edu 37 5 149576666 149576666 + Silent SNP C C A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:149576666C>A ENST00000230671.2 + 4 782 c.411C>A c.(409-411)atC>atA p.I137I SLC6A7_ENST00000524041.1_Silent_p.I137I NM_014228.3 NP_055043.2 Q99884 SC6A7_HUMAN solute carrier family 6 (neurotransmitter transporter), member 7 137 integral to plasma membrane|membrane fraction neurotransmitter:sodium symporter activity|proline:sodium symporter activity NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1) 16 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) L-Proline(DB00172) ACATGATCATCGCCTACGTGC 0.622000 22 65 1.2644e-06 1.30596e-06 1 1 0 CHRFAM7A 89832 broad.mit.edu 37 15 30659650 30659650 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr15:30659650C>T ENST00000397827.3 - 8 1192 c.418G>A c.(418-420)Gac>Aac p.D140N CHRFAM7A_ENST00000299847.2_Missense_Mutation_p.D231N|CHRFAM7A_ENST00000401522.3_Missense_Mutation_p.D140N NM_148911.1 NP_683709.1 Q494W8 CRFM7_HUMAN CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion 231 integral to membrane|postsynaptic membrane extracellular ligand-gated ion channel activity large_intestine(3)|lung(1)|skin(2) 6 all_lung(180;3.42e-11)|Breast(32;0.000153) all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153) CCGTCGGGGTCGTGGTGGTGG 0.597000 12 68 0 0 1 0 0 NAA15 80155 broad.mit.edu 37 4 140297588 140297588 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr4:140297588G>A ENST00000296543.5 + 16 2340 c.2017G>A c.(2017-2019)Gag>Aag p.E673K NAA15_ENST00000398947.1_Missense_Mutation_p.E673K NM_057175.3 NP_476516.1 Q9BXJ9 NAA15_HUMAN N(alpha)-acetyltransferase 15, NatA auxiliary subunit 673 angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|transcription factor complex protein binding NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 GAACAAGATAGAGACTCATCT 0.338000 18 44 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237872347 237872347 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:237872347G>A ENST00000366574.2 + 69 10408 c.10091G>A c.(10090-10092)aGa>aAa p.R3364K RYR2_ENST00000360064.6_Missense_Mutation_p.R3362K|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Missense_Mutation_p.R3348K NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 3364 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) ACACTGGCCAGAGATCTCTAT 0.463000 10 22 0 0 1 0 0 UGP2 7360 broad.mit.edu 37 2 64112904 64112904 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:64112904G>C ENST00000337130.5 + 6 1233 c.757G>C c.(757-759)Gat>Cat p.D253H UGP2_ENST00000487469.1_3'UTR|UGP2_ENST00000467648.2_Missense_Mutation_p.D242H|UGP2_ENST00000445915.2_Missense_Mutation_p.D262H|UGP2_ENST00000394417.2_Missense_Mutation_p.D242H NM_006759.3 NP_006750.3 Q16851 UGPA_HUMAN UDP-glucose pyrophosphorylase 2 253 glycogen biosynthetic process|phosphorylation|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process cytosol metal ion binding|protein binding|UTP:glucose-1-phosphate uridylyltransferase activity endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1) 18 GTCTAACATAGATAATCTGGG 0.388000 19 65 0 0 1 0 0 CPA1 1357 broad.mit.edu 37 7 130027841 130027841 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:130027841C>T ENST00000011292.3 + 10 1399 c.1249C>T c.(1249-1251)Cac>Tac p.H417Y CPA1_ENST00000484324.1_Missense_Mutation_p.H329Y NM_001868.2 NP_001859.1 P15085 CBPA1_HUMAN carboxypeptidase A1 (pancreatic) 417 proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1) 21 Melanoma(18;0.0435) CACCCTGAATCACCCCTACTG 0.567000 66 233 0 0 1 0 0 DCHS1 8642 broad.mit.edu 37 11 6661080 6661080 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:6661080C>T ENST00000299441.3 - 2 2176 c.1765G>A c.(1765-1767)Gag>Aag p.E589K NM_003737.2 NP_003728.1 Q96JQ0 PCD16_HUMAN dachsous cadherin-related 1 589 Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TGGGTGCCCTCAGGCAGTGAG 0.567000 11 65 0 0 1 0 0 NFRKB 4798 broad.mit.edu 37 11 129744722 129744722 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:129744722G>A ENST00000446488.3 - 18 2047 c.1944C>T c.(1942-1944)atC>atT p.I648I NFRKB_ENST00000524794.1_Silent_p.I673I|NFRKB_ENST00000304521.5_Silent_p.I648I|NFRKB_ENST00000524746.1_Silent_p.I648I NM_001143835.1 NP_001137307.1 Q6P4R8 NFRKB_HUMAN nuclear factor related to kappaB binding protein 648 DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Ino80 complex DNA binding|protease binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1) 32 all_hematologic(175;0.0537) Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186) OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184) GATGCAGGTAGATCCACAGCT 0.488000 45 147 0 0 1 0 0 TMEM140 55281 broad.mit.edu 37 7 134849404 134849404 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:134849404G>A ENST00000275767.3 + 2 434 c.211G>A c.(211-213)Gaa>Aaa p.E71K C7orf49_ENST00000459937.1_Intron NM_018295.3 NP_060765.4 Q9NV12 TM140_HUMAN transmembrane protein 140 integral to membrane kidney(1)|large_intestine(2)|lung(2) 5 CCCTGAGCTGGAAGCCCTGGG 0.622000 48 115 0 0 1 0 0 XPO6 23214 broad.mit.edu 37 16 28167708 28167708 + Missense_Mutation SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr16:28167708G>T ENST00000304658.5 - 7 1284 c.784C>A c.(784-786)Ctg>Atg p.L262M XPO6_ENST00000565698.1_Missense_Mutation_p.L248M NM_015171.3 NP_055986.1 Q96QU8 XPO6_HUMAN exportin 6 262 protein export from nucleus protein binding|protein transporter activity breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 25 CTGGCAGACAGAGGAATCCAA 0.517000 22 92 2.37509e-13 2.50033e-13 1 1 0 TNXB 7148 broad.mit.edu 37 6 32021477 32021477 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:32021477C>T ENST00000375244.3 - 25 8680 c.8479G>A c.(8479-8481)Gaa>Aaa p.E2827K TNXB_ENST00000375247.2_Missense_Mutation_p.E2825K P22105 TENX_HUMAN tenascin XB 2880 Fibronectin type-III 20. actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction extracellular space|intracellular|proteinaceous extracellular matrix heparin binding|integrin binding endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1) 8 GTCTCTGCTTCATCCTCTGGA 0.587000 16 62 0 0 1 0 0 KIRREL 55243 broad.mit.edu 37 1 158061274 158061274 + Nonsense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:158061274C>T ENST00000368172.1 + 7 853 c.841C>T c.(841-843)Cag>Tag p.Q281* KIRREL_ENST00000359209.6_Nonsense_Mutation_p.Q467*|KIRREL_ENST00000392272.2_Nonsense_Mutation_p.Q364*|KIRREL_ENST00000360089.4_Nonsense_Mutation_p.Q303*|KIRREL_ENST00000368173.3_Nonsense_Mutation_p.Q483*|KIRREL_ENST00000416935.2_Nonsense_Mutation_p.Q367* Q96J84 KIRR1_HUMAN kin of IRRE like (Drosophila) 467 Ig-like C2-type 3. integral to membrane NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1) 38 all_hematologic(112;0.0378) GGCCGACTTTCAGACTCACTA 0.592000 39 113 0 0 1 0 0 C2orf49 79074 broad.mit.edu 37 2 105954067 105954067 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:105954067G>A ENST00000258457.2 + 1 252 c.23G>A c.(22-24)cGc>cAc p.R8H C2orf49_ENST00000410049.1_Missense_Mutation_p.R8H|C2orf49_ENST00000437250.2_Missense_Mutation_p.R46H Q9BVC5 ASHWN_HUMAN chromosome 2 open reading frame 49 8 tRNA-splicing ligase complex endometrium(1)|kidney(1)|large_intestine(3)|lung(1) 6 GTGGGCGGTCGCAGCTGCACG 0.672000 11 28 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237619914 237619914 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:237619914C>T ENST00000366574.2 + 16 1808 c.1491C>T c.(1489-1491)ctC>ctT p.L497L RYR2_ENST00000360064.6_Silent_p.L495L|RYR2_ENST00000542537.1_Silent_p.L481L NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 497 cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) TGATCAACCTCGTGCTTGAGT 0.413000 12 57 0 0 1 0 0 ITGAM 3684 broad.mit.edu 37 16 31283172 31283172 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr16:31283172C>G ENST00000544665.3 + 7 634 c.563C>G c.(562-564)tCt>tGt p.S188C ITGAM_ENST00000287497.8_Missense_Mutation_p.S188C NM_000632.3|NM_001145808.1 NP_000623.2|NP_001139280.1 P11215 ITAM_HUMAN integrin, alpha M (complement component 3 receptor 3 subunit) 188 VWFA. blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration integrin complex glycoprotein binding|receptor activity endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1) 56 CCGCAGTTCTCTTTGATGCAG 0.517000 16 46 0 0 1 0 0 PRSS50 29122 broad.mit.edu 37 3 46753882 46753882 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:46753882C>T ENST00000460241.1 - 11 2682 c.1012G>A c.(1012-1014)Gag>Aag p.E338K PRSS50_ENST00000315170.7_Missense_Mutation_p.E338K Q9UI38 TSP50_HUMAN protease, serine, 50 338 Peptidase S1. proteolysis endoplasmic reticulum serine-type endopeptidase activity|threonine-type endopeptidase activity endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 11 GGTGGGGCCTCGCTCTTCTGG 0.637000 15 48 0 0 1 0 0 EGF 1950 broad.mit.edu 37 4 110932606 110932606 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr4:110932606C>G ENST00000265171.5 + 24 4064 c.3619C>G c.(3619-3621)Cag>Gag p.Q1207E EGF_ENST00000509793.1_Missense_Mutation_p.Q1165E|EGF_ENST00000503392.1_Missense_Mutation_p.Q1166E NM_001178130.1|NM_001963.4 NP_001171601.1|NP_001954.2 P01133 EGF_HUMAN epidermal growth factor 1207 angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface integral to membrane|plasma membrane|platelet alpha granule lumen calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Hepatocellular(203;0.0893) OV - Ovarian serous cystadenocarcinoma(123;9.87e-06) Sulindac(DB00605) GGAGCTGACTCAGTGAAAACT 0.443000 22 97 0 0 1 0 0 PTEN 5728 broad.mit.edu 37 10 89725197 89725197 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:89725197G>A ENST00000371953.3 + 9 2537 c.1180G>A c.(1180-1182)Gaa>Aaa p.E394K NM_000314.4 NP_000305.3 P60484 PTEN_HUMAN phosphatase and tensin homolog 394 activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.0?(37)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1) NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17) 2771 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) ACCTTTTGATGAAGATCAGCA 0.328000 31 """D, Mis, N, F, S""" """glioma, prostate, endometrial""" """harmartoma, glioma, prostate, endometrial""" Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) 10 19 0 0 1 0 0 DDB2 1643 broad.mit.edu 37 11 47259526 47259526 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:47259526G>A ENST00000256996.4 + 8 1357 c.1162G>A c.(1162-1164)Gac>Aac p.D388N DDB2_ENST00000378600.3_Missense_Mutation_p.D199N|DDB2_ENST00000378603.3_Missense_Mutation_p.D324N|DDB2_ENST00000378601.3_3'UTR NM_000107.2 NP_000098.1 Q92466 DDB2_HUMAN damage-specific DNA binding protein 2, 48kDa 388 nucleotide-excision repair, DNA damage removal|protein autoubiquitination|protein polyubiquitination|response to UV nucleoplasm|protein complex damaged DNA binding|protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(1) 17 TCAGCTCTATGACCCAGAATC 0.463000 """Mis, N""" """skin basal cell, skin squamous cell, melanoma""" Direct reversal of damage;Nucleotide excision repair (NER) Xeroderma Pigmentosum 17 63 0 0 1 0 0 KMT2D 8085 broad.mit.edu 37 12 49427438 49427438 + Nonsense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:49427438G>A ENST00000301067.7 - 39 11049 c.11050C>T c.(11050-11052)Caa>Taa p.Q3684* NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D CCAGAATGTTGCTGTTGCTGC 0.597000 33 112 0 0 1 0 0 ANKHD1 54882 broad.mit.edu 37 5 139907508 139907508 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:139907508G>A ENST00000297183.6 + 28 5262 c.5138G>A c.(5137-5139)aGa>aAa p.R1713K ANKHD1_ENST00000360839.2_Missense_Mutation_p.R1713K|ANKHD1_ENST00000544120.1_Missense_Mutation_p.R96K|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.R1713K NM_020690.5 NP_065741.3 ankyrin repeat and KH domain containing 1 breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATAATGGGAAGAGGAGGATGC 0.378000 7 29 0 0 1 0 0 HKDC1 80201 broad.mit.edu 37 10 71008329 71008329 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:71008329G>A ENST00000354624.5 + 10 1548 c.1415G>A c.(1414-1416)aGg>aAg p.R472K HKDC1_ENST00000395086.2_Missense_Mutation_p.R472K|HKDC1_ENST00000488706.1_3'UTR NM_025130.3 NP_079406 Q2TB90 HKDC1_HUMAN hexokinase domain containing 1 472 glycolysis mitochondrion|nucleus ATP binding|hexokinase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 CAGATCGACAGGGTGCTGGCT 0.652000 23 52 0 0 1 0 0 DYSF 8291 broad.mit.edu 37 2 71883391 71883391 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:71883391G>C ENST00000258104.3 + 42 4886 c.4609G>C c.(4609-4611)Gaa>Caa p.E1537Q DYSF_ENST00000409762.1_Missense_Mutation_p.E1554Q|DYSF_ENST00000409366.1_Missense_Mutation_p.E1559Q|DYSF_ENST00000409744.1_Missense_Mutation_p.E1545Q|DYSF_ENST00000409582.3_Missense_Mutation_p.E1575Q|DYSF_ENST00000410020.3_Missense_Mutation_p.E1576Q|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000410041.1_Missense_Mutation_p.E1555Q|DYSF_ENST00000409651.1_Missense_Mutation_p.E1569Q|DYSF_ENST00000394120.2_Missense_Mutation_p.E1538Q|DYSF_ENST00000429174.2_Missense_Mutation_p.E1558Q|DYSF_ENST00000413539.2_Missense_Mutation_p.E1568Q NM_001130976.1|NM_003494.3 NP_001124448.1|NP_003485.1 O75923 DYSF_HUMAN dysferlin 1537 cytoplasmic vesicle membrane|integral to membrane|sarcolemma calcium-dependent phospholipid binding autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2) 111 GGAGGAGACAGAAGATCCATC 0.507000 77 263 0 0 1 0 0 MYT1L 23040 broad.mit.edu 37 2 1795702 1795702 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:1795702C>G ENST00000399161.2 - 25 4245 c.3498G>C c.(3496-3498)caG>caC p.Q1166H MYT1L_ENST00000407844.1_Missense_Mutation_p.Q164H|MYT1L_ENST00000428368.2_Missense_Mutation_p.Q1164H NM_015025.2 NP_055840.2 Q9UL68 MYT1L_HUMAN myelin transcription factor 1-like 1166 cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 97 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.037)|all_epithelial(98;0.241) OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244) TTTCTGGACTCTGATAACGAT 0.363000 11 30 0 0 1 0 0 OR6C74 254783 broad.mit.edu 37 12 55641610 55641610 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:55641610C>G ENST00000343870.4 + 1 629 c.539C>G c.(538-540)tCt>tGt p.S180C NM_001005490.1 NP_001005490.1 A6NCV1 O6C74_HUMAN olfactory receptor, family 6, subfamily C, member 74 180 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1) 12 TGTGATGTTTCTCCTATACTG 0.433000 20 79 0 0 1 0 0 PRKAR2A 5576 broad.mit.edu 37 3 48884887 48884887 + Nonsense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:48884887G>C ENST00000265563.8 - 1 392 c.143C>G c.(142-144)tCa>tGa p.S48* PRKAR2A_ENST00000454963.1_Nonsense_Mutation_p.S48*|PRKAR2A_ENST00000296446.8_Nonsense_Mutation_p.S48* NM_004157.2 NP_004148.1 P13861 KAP2_HUMAN protein kinase, cAMP-dependent, regulatory, type II, alpha 48 Dimerization and phosphorylation. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport centrosome|cytosol|membrane fraction cAMP binding|cAMP-dependent protein kinase regulator activity SLC26A6/PRKAR2A(2) breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1) 6 BRCA - Breast invasive adenocarcinoma(193;0.000176)|Kidney(197;0.00246)|KIRC - Kidney renal clear cell carcinoma(197;0.00261) GGGCAGGACTGAGGCTGGGGC 0.726000 6 11 0 0 1 0 0 ZDBF2 57683 broad.mit.edu 37 2 207169625 207169625 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:207169625C>G ENST00000374423.3 + 5 759 c.373C>G c.(373-375)Cag>Gag p.Q125E NM_020923.1 NP_065974.1 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 125 nucleic acid binding|zinc ion binding endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 95 TCATAAATCTCAGGAAGGCAC 0.468000 9 27 0 0 1 0 0 PITRM1 10531 broad.mit.edu 37 10 3206032 3206032 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:3206032G>A ENST00000380989.2 - 7 714 c.676C>T c.(676-678)Ctt>Ttt p.L226F PITRM1_ENST00000224949.4_Missense_Mutation_p.L226F|PITRM1_ENST00000451104.2_Missense_Mutation_p.L194F|PITRM1-AS1_ENST00000598280.1_RNA|PITRM1-AS1_ENST00000601046.1_RNA NM_001242307.1|NM_014889.3 NP_001229236.1|NP_055704.2 E7ES23 E7ES23_HUMAN pitrilysin metallopeptidase 1 194 proteolysis metalloendopeptidase activity|zinc ion binding breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3) 33 TGGTCAGGAAGAAGTCTGTTC 0.438000 25 70 0 0 1 0 0 LTF 4057 broad.mit.edu 37 3 46492002 46492002 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:46492002G>A ENST00000231751.4 - 7 1160 c.865C>T c.(865-867)Ctt>Ttt p.L289F LTF_ENST00000426532.2_Missense_Mutation_p.L245F|LTF_ENST00000417439.1_Missense_Mutation_p.L289F NM_002343.3 NP_002334.2 P02788 TRFL_HUMAN lactotransferrin 289 Transferrin-like 1. cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport extracellular region|stored secretory granule ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 40 all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089) Pefloxacin(DB00487) TGGCGGAGAAGATTCCAGATG 0.562000 9 27 0 0 1 0 0 PMS2P3 5387 broad.mit.edu 37 7 75156971 75156971 + RNA SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:75156971C>T ENST00000418756.1 - 0 482 NR_028059.1 lung(1) 1 GCGCGCGCGTCTGCTCGCGAG 0.726000 5 12 0 0 1 0 0 CENPB 1059 broad.mit.edu 37 20 3765738 3765738 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr20:3765738C>T ENST00000379751.4 - 1 1599 c.1393G>A c.(1393-1395)Gag>Aag p.E465K NM_001810.5 NP_001801.1 P07199 CENPB_HUMAN centromere protein B, 80kDa 465 Glu-rich (acidic). regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus chromatin binding|satellite DNA binding kidney(1)|large_intestine(2)|lung(4)|skin(1) 8 GAGGAGCTCTCCTCATCTTCC 0.617000 17 59 0 0 1 0 0 GOLGA6L7P 728310 broad.mit.edu 37 15 29091372 29091372 + RNA SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr15:29091372C>T ENST00000569815.1 - 0 329 NR_047567.1 TTACCTCTTTCAGCTGAGCTC 0.567000 3 21 0 0 1 0 0 KIAA0922 23240 broad.mit.edu 37 4 154514972 154514972 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr4:154514972G>C ENST00000409663.3 + 19 1993 c.1941G>C c.(1939-1941)atG>atC p.M647I KIAA0922_ENST00000409959.3_Missense_Mutation_p.M648I|KIAA0922_ENST00000440693.1_Missense_Mutation_p.M564I NM_015196.3 NP_056011.3 A2VDJ0 T131L_HUMAN KIAA0922 647 integral to membrane breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 all_hematologic(180;0.093) Renal(120;0.118) ATATGCAGATGATTAATTTCA 0.378000 8 36 0 0 1 0 0 ZNF552 79818 broad.mit.edu 37 19 58319728 58319728 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:58319728G>C ENST00000391701.1 - 3 1073 c.904C>G c.(904-906)Cag>Gag p.Q302E ZNF586_ENST00000598885.1_Intron|ZNF586_ENST00000599802.1_Intron NM_024762.3 NP_079038.2 Q9H707 ZN552_HUMAN zinc finger protein 552 302 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 11 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259) AAAAATTTCTGACAAACCTCA 0.433000 25 62 0 0 1 0 0 LAMB2 3913 broad.mit.edu 37 3 49160696 49160696 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:49160696G>A ENST00000418109.1 - 27 4257 c.4093C>T c.(4093-4095)Cgg>Tgg p.R1365W LAMB2_ENST00000305544.4_Missense_Mutation_p.R1365W NM_002292.3 NP_002283.3 P55268 LAMB2_HUMAN laminin, beta 2 (laminin S) 1365 Domain II. 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) GTCCGATGCCGAGCACTTGCC 0.587000 41 124 0 0 1 0 0 RNF213 57674 broad.mit.edu 37 17 78328356 78328356 + Silent SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:78328356C>G ENST00000582970.1 + 36 10985 c.10842C>G c.(10840-10842)ctC>ctG p.L3614L RNF213_ENST00000508628.2_Silent_p.L3663L|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000336301.6_Silent_p.L1687L|CTD-2047H16.4_ENST00000575034.1_RNA NM_001256071.1 NP_001243000.1 Q9HCF4 ALO17_HUMAN ring finger protein 213 0 NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 130 all_neural(118;0.0538) BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057) AGGACGCTCTCCAGGAGGCGG 0.547000 14 52 0 0 1 0 0 HPS3 84343 broad.mit.edu 37 3 148871318 148871318 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:148871318G>C ENST00000296051.2 + 7 1423 c.1283G>C c.(1282-1284)aGa>aCa p.R428T HPS3_ENST00000460120.1_Missense_Mutation_p.R263T NM_032383.3 NP_115759.2 Q969F9 HPS3_HUMAN Hermansky-Pudlak syndrome 3 428 cytoplasm breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3) 34 LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607) TGTGCTTTAAGAATACAGCTT 0.378000 Hermansky-Pudlak syndrome 28 61 0 0 1 0 0 FAM46A 55603 broad.mit.edu 37 6 82461733 82461733 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:82461733G>A ENST00000369754.3 - 2 495 c.183C>T c.(181-183)ttC>ttT p.F61F FAM46A_ENST00000369756.3_Silent_p.F123F|FAM46A_ENST00000320172.6_Silent_p.F42F Q96IP4 FA46A_HUMAN family with sequence similarity 46, member A 42 endometrium(2)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1) 12 all_cancers(76;6.74e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000282)|all_epithelial(107;0.0104) BRCA - Breast invasive adenocarcinoma(397;0.0428) cgccaccgccgaagtcgccgc 0.677000 20 32 0 0 1 0 0 ANK3 288 broad.mit.edu 37 10 61815494 61815494 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:61815494C>T ENST00000280772.2 - 42 13178 c.12987G>A c.(12985-12987)atG>atA p.M4329I ANK3_ENST00000373827.2_Missense_Mutation_p.M1813I|ANK3_ENST00000503366.1_Missense_Mutation_p.M1820I|ANK3_ENST00000355288.2_Missense_Mutation_p.M953I NM_020987.3 NP_066267.2 Q12955 ANK3_HUMAN ankyrin 3, node of Ranvier (ankyrin G) establishment of protein localization|signal transduction basolateral plasma membrane|cytoplasm|cytoskeleton protein binding NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7) 196 AAGTCCTACTCATCTTTTTCA 0.473000 79 216 0 0 1 0 0 TREX2 11219 broad.mit.edu 37 X 152710201 152710201 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chrX:152710201C>T ENST00000330912.2 - 13 2238 c.688G>A c.(688-690)Gat>Aat p.D230N TREX2_ENST00000402951.1_Missense_Mutation_p.D273N|TREX2_ENST00000370232.1_Missense_Mutation_p.D273N|TREX2_ENST00000370231.2_Missense_Mutation_p.D230N|TREX2_ENST00000393862.2_Missense_Mutation_p.D230N|TREX2_ENST00000334497.2_Missense_Mutation_p.D273N|TREX2_ENST00000338525.2_Missense_Mutation_p.D230N|TREX2_ENST00000414588.1_Missense_Mutation_p.D272N Q9BQ50 TREX2_HUMAN three prime repair exonuclease 2 273 DNA repair nucleus 3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|nucleic acid binding endometrium(4)|large_intestine(2)|lung(3)|ovary(2) 11 all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) CTGGGGTCATCAGGCGGCAAG 0.687000 Editing and processing nucleases 5 3 0 0 1 0 0 UBE3B 89910 broad.mit.edu 37 12 109927815 109927815 + Silent SNP T T C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:109927815T>C ENST00000537063.1 + 8 873 c.636T>C c.(634-636)tgT>tgC p.C212C UBE3B_ENST00000434735.2_Intron|UBE3B_ENST00000340074.5_Intron|UBE3B_ENST00000536398.1_Intron|UBE3B_ENST00000280774.5_Intron|UBE3B_ENST00000540230.1_Intron|UBE3B_ENST00000342494.3_Intron Q7Z3V4 UBE3B_HUMAN ubiquitin protein ligase E3B 0 protein ubiquitination involved in ubiquitin-dependent protein catabolic process intracellular ubiquitin-protein ligase activity NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2) 45 TGCAGGTCTGTGACTCCTGCC 0.458000 27 53 0 0 1 0 0 GSC2 2928 broad.mit.edu 37 22 19137311 19137311 + Silent SNP C C A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr22:19137311C>A ENST00000086933.2 - 2 377 c.378G>T c.(376-378)acG>acT p.T126T NM_005315.1 NP_005306.1 O15499 GSC2_HUMAN goosecoid homeobox 2 126 anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|large_intestine(1)|lung(2) 4 Colorectal(54;0.0993) GGTGGCGCCTCGTGCGCCGCT 0.716000 8 19 1.12685e-05 1.14989e-05 1 1 0 DSCAML1 57453 broad.mit.edu 37 11 117308767 117308767 + Missense_Mutation SNP C C G rs140883925 TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:117308767C>G ENST00000321322.6 - 25 4457 c.4456G>C c.(4456-4458)Gag>Cag p.E1486Q DSCAML1_ENST00000527706.1_Missense_Mutation_p.E1216Q NM_020693.2 NP_065744.2 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 1426 Fibronectin type-III 6. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 110 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) TTCCACTCCTCGCTGTTGTCC 0.602000 17 43 0 0 1 0 0 IL10 3586 broad.mit.edu 37 1 206944333 206944333 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:206944333C>T ENST00000423557.1 - 3 355 c.297G>A c.(295-297)gaG>gaA p.E99E IL10_ENST00000471071.1_5'UTR NM_000572.2 NP_000563.1 P22301 IL10_HUMAN interleukin 10 99 anti-apoptosis|B cell differentiation|B cell proliferation|cytoplasmic sequestering of NF-kappaB|inflammatory response|leukocyte chemotaxis|negative regulation of B cell proliferation|negative regulation of cytokine secretion involved in immune response|negative regulation of interferon-alpha biosynthetic process|negative regulation of interleukin-6 production|negative regulation of membrane protein ectodomain proteolysis|negative regulation of MHC class II biosynthetic process|negative regulation of T cell proliferation|positive regulation of B cell apoptosis|positive regulation of cytokine secretion|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|receptor biosynthetic process|regulation of isotype switching|response to glucocorticoid stimulus|type 2 immune response extracellular space cytokine activity|growth factor activity|interleukin-10 receptor binding endometrium(1)|large_intestine(6)|lung(4)|prostate(1) 12 Breast(84;0.183) BRCA - Breast invasive adenocarcinoma(75;0.211) GGTCTTGGTTCTCAGCTTGGG 0.547000 39 110 0 0 1 0 0 WDR47 22911 broad.mit.edu 37 1 109517317 109517317 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:109517317C>T ENST00000357672.3 - 13 2749 c.2374G>A c.(2374-2376)Gaa>Aaa p.E792K WDR47_ENST00000400794.3_Missense_Mutation_p.E828K|WDR47_ENST00000369965.4_Missense_Mutation_p.E821K|WDR47_ENST00000369962.3_Missense_Mutation_p.E820K|WDR47_ENST00000361054.3_Missense_Mutation_p.E792K O94967 WDR47_HUMAN WD repeat domain 47 820 breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 20 all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822) Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244) CTAGAATCTTCTTGACCTGTG 0.438000 7 19 0 0 1 0 0 ARMC9 80210 broad.mit.edu 37 2 232100023 232100023 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:232100023G>A ENST00000349938.4 + 8 903 c.709G>A c.(709-711)Gac>Aac p.D237N ARMC9_ENST00000483477.1_3'UTR NM_001271466.1|NM_025139.4 NP_001258395.1|NP_079415 Q7Z3E5 ARMC9_HUMAN armadillo repeat containing 9 237 binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205) Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189) GATCCAGGCCGACTACCACAA 0.488000 11 40 0 0 1 0 0 MED22 6837 broad.mit.edu 37 9 136213407 136213407 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:136213407G>C ENST00000491289.1 - 2 692 c.111C>G c.(109-111)atC>atG p.I37M MED22_ENST00000343730.5_Missense_Mutation_p.I37M|MED22_ENST00000371999.1_Missense_Mutation_p.I37M|MED22_ENST00000476080.1_Missense_Mutation_p.I37M|MED22_ENST00000471524.1_Intron|MED22_ENST00000344469.5_Missense_Mutation_p.I37M Q15528 MED22_HUMAN mediator complex subunit 22 37 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|mediator complex|soluble fraction protein binding endometrium(1)|large_intestine(1)|ovary(1)|urinary_tract(1) 4 OV - Ovarian serous cystadenocarcinoma(145;1.14e-06)|Epithelial(140;8.2e-06)|all cancers(34;6.94e-05) TGGCGGTCTTGATGATCTCGG 0.597000 33 80 0 0 1 0 0 DGKD 8527 broad.mit.edu 37 2 234343511 234343511 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:234343511C>G ENST00000264057.2 + 5 562 c.550C>G c.(550-552)Ctg>Gtg p.L184V DGKD_ENST00000409813.3_Missense_Mutation_p.L140V NM_152879.2 NP_690618.2 Q16760 DGKD_HUMAN diacylglycerol kinase, delta 130kDa 184 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1) 38 Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538) Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655) Phosphatidylserine(DB00144) CCGTGAGGCTCTGTCTGGGGT 0.567000 48 163 0 0 1 0 0 ZW10 9183 broad.mit.edu 37 11 113631013 113631013 + Silent SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:113631013G>C ENST00000200135.3 - 5 642 c.498C>G c.(496-498)ctC>ctG p.L166L NM_004724.3 NP_004715.1 O43264 ZW10_HUMAN zw10 kinetochore protein 166 Interaction with RINT1. cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole centromeric DNA binding|protein binding central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1) 18 all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786) TCTGTATTGTGAGCTCCATGC 0.393000 11 41 0 0 1 0 0 MANBAL 63905 broad.mit.edu 37 20 35929739 35929739 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr20:35929739G>A ENST00000373605.3 + 3 885 c.73G>A c.(73-75)Gga>Aga p.G25R MANBAL_ENST00000397151.1_Missense_Mutation_p.G25R|MANBAL_ENST00000397150.1_Missense_Mutation_p.G25R|MANBAL_ENST00000397152.3_Missense_Mutation_p.G25R|MANBAL_ENST00000397156.3_Missense_Mutation_p.G25R|MANBAL_ENST00000373606.3_Missense_Mutation_p.G25R Q9NQG1 MANBL_HUMAN mannosidase, beta A, lysosomal-like 25 integral to membrane large_intestine(1)|lung(4)|upper_aerodigestive_tract(1) 6 Myeloproliferative disorder(115;0.00878) GCTACGGTACGGACTCTTCCT 0.597000 24 90 0 0 1 0 0 SLC22A3 6581 broad.mit.edu 37 6 160769463 160769463 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:160769463C>G ENST00000392145.1 + 1 39 c.12C>G c.(10-12)ttC>ttG p.F4L SLC22A3_ENST00000275300.2_Missense_Mutation_p.F4L O75751 S22A3_HUMAN solute carrier family 22 (organic cation transporter), member 3 4 integral to plasma membrane|membrane fraction protein binding|quaternary ammonium group transmembrane transporter activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 27 Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218) OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06) TGCCCTCCTTCGACGAGGCGC 0.731000 12 33 0 0 1 0 0 INTS5 80789 broad.mit.edu 37 11 62416061 62416061 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:62416061G>A ENST00000330574.2 - 2 1543 c.1491C>T c.(1489-1491)ctC>ctT p.L497L NM_030628.1 NP_085131.1 Q6P9B9 INT5_HUMAN integrator complex subunit 5 497 snRNA processing integral to membrane|integrator complex protein binding breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2) 36 GGTGCTGCCAGAGGAAGCGCT 0.602000 52 167 0 0 1 0 0 TRAPPC12 51112 broad.mit.edu 37 2 3481522 3481522 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:3481522G>C ENST00000324266.5 + 10 2028 c.1833G>C c.(1831-1833)caG>caC p.Q611H TRAPPC12_ENST00000382110.2_Missense_Mutation_p.Q611H NM_016030.5 NP_057114.5 Q8WVT3 TTC15_HUMAN trafficking protein particle complex 12 611 binding AAGTAACACAGAAATTAGATG 0.308000 7 35 0 0 1 0 0 CUL4B 8450 broad.mit.edu 37 X 119669775 119669775 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chrX:119669775G>C ENST00000371322.5 - 16 2131 c.2070C>G c.(2068-2070)ttC>ttG p.F690L CUL4B_ENST00000336592.6_Missense_Mutation_p.F695L|CUL4B_ENST00000404115.3_Missense_Mutation_p.F708L NM_001079872.1 NP_001073341.1 Q13620 CUL4B_HUMAN cullin 4B 708 cell cycle|DNA repair|ubiquitin-dependent protein catabolic process Cul4B-RING ubiquitin ligase complex|nucleus protein binding|ubiquitin protein ligase binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 AAAATGTCTTGAAAATCTCCT 0.348000 43 26 0 0 1 0 0 TTC7B 145567 broad.mit.edu 37 14 91282539 91282539 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:91282539G>A ENST00000357056.2 - 1 222 c.101C>T c.(100-102)tCg>tTg p.S34L TTC7B_ENST00000328459.6_Missense_Mutation_p.S34L Q86TV6 TTC7B_HUMAN tetratricopeptide repeat domain 7B 34 binding NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 36 Melanoma(154;0.222) GAGCTTGGCCGACAGCTGCTT 0.751000 10 39 0 0 1 0 0 ZNF607 84775 broad.mit.edu 37 19 38200664 38200664 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:38200664G>A ENST00000355202.4 - 3 664 c.69C>T c.(67-69)ctC>ctT p.L23L CTD-2528L19.4_ENST00000586606.2_Silent_p.L23L|ZNF607_ENST00000395835.3_Silent_p.L23L NM_032689.4 NP_116078.4 Q96SK3 ZN607_HUMAN zinc finger protein 607 23 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1) 27 UCEC - Uterine corpus endometrioid carcinoma (49;0.0775) GAACCAGGCTGAGATATTCCC 0.418000 18 59 0 0 1 0 0 CDH3 1001 broad.mit.edu 37 16 68721569 68721569 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr16:68721569C>T ENST00000264012.4 + 12 2269 c.1725C>T c.(1723-1725)caC>caT p.H575H CDH3_ENST00000429102.2_Silent_p.H575H|CDH3_ENST00000581171.1_Silent_p.H520H NM_001793.4 NP_001784.2 P22223 CADH3_HUMAN cadherin 3, type 1, P-cadherin (placental) 575 Cadherin 5. adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception integral to membrane calcium ion binding p.?(2) NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1) 25 Ovarian(137;0.0564) OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384) TGTCTCCCCACACCTCCCCTT 0.597000 23 91 0 0 1 0 0 YWHAE 7531 broad.mit.edu 37 17 1257622 1257622 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:1257622C>G ENST00000264335.8 - 5 865 c.598G>C c.(598-600)Gat>Cat p.D200H YWHAE_ENST00000575977.1_Intron|YWHAE_ENST00000571732.1_Missense_Mutation_p.D178H|YWHAE_ENST00000573026.1_Intron NM_006761.4 NP_006752.1 P62258 1433E_HUMAN tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide 200 apoptosis|G2/M transition of mitotic cell cycle|induction of apoptosis by extracellular signals|interspecies interaction between organisms|intracellular signal transduction|nerve growth factor receptor signaling pathway cytosol|melanosome histone deacetylase binding|phosphoserine binding kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1) 14 OV - Ovarian serous cystadenocarcinoma(18;0.203) UCEC - Uterine corpus endometrioid carcinoma (25;0.0887) ATTGCATCATCAAAAGCTGCT 0.353000 T """FAM22a, FAM22B""" edometrial stromal sarcoma Miller-Dieker lissencephaly syndrome 13 29 0 0 1 0 0 MTMR2 8898 broad.mit.edu 37 11 95590723 95590723 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:95590723C>T ENST00000393223.3 - 9 1093 c.431G>A c.(430-432)aGa>aAa p.R144K MTMR2_ENST00000409459.1_Missense_Mutation_p.R144K|MTMR2_ENST00000352297.7_Missense_Mutation_p.R144K|MTMR2_ENST00000484818.1_5'UTR|MTMR2_ENST00000346299.5_Missense_Mutation_p.R216K NM_001243571.1|NM_201278.2 NP_001230500.1|NP_958435.1 Q13614 MTMR2_HUMAN myotubularin related protein 2 216 nucleus inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 19 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) TACCTGCCTTCTATACTCTAA 0.338000 5 24 0 0 1 0 0 DNMBP 23268 broad.mit.edu 37 10 101639649 101639649 + Silent SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:101639649G>T ENST00000342239.3 - 16 4630 c.4539C>A c.(4537-4539)ctC>ctA p.L1513L DNMBP_ENST00000324109.4_Silent_p.L1489L|DNMBP_ENST00000540316.1_Silent_p.L425L|DNMBP_ENST00000543621.1_Silent_p.L735L Q6XZF7 DNMBP_HUMAN dynamin binding protein 1489 SH3 6. intracellular signal transduction|regulation of Rho protein signal transduction cell junction|cytoskeleton|Golgi stack|synapse protein binding|Rho guanyl-nucleotide exchange factor activity central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1) 61 Colorectal(252;0.234) Epithelial(162;2.94e-10)|all cancers(201;3.15e-08) ATCCTTTGACGAGGTCTTGAC 0.547000 32 101 1.08312e-15 1.14592e-15 1 1 0 HERPUD1 9709 broad.mit.edu 37 16 56970630 56970630 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr16:56970630C>G ENST00000439977.2 + 4 529 c.332C>G c.(331-333)tCt>tGt p.S111C HERPUD1_ENST00000300302.5_Missense_Mutation_p.S110C|HERPUD1_ENST00000344114.4_Missense_Mutation_p.S110C|HERPUD1_ENST00000379792.2_Missense_Mutation_p.S86C|HERPUD1_ENST00000570273.1_3'UTR NM_001010989.1|NM_014685.2 NP_001010989.1|NP_055500.1 Q15011 HERP1_HUMAN homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1 111 endoplasmic reticulum membrane|integral to membrane protein binding cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1) 11 CCTGCTGGTTCTAATCGGGGA 0.453000 T ERG prostate 14 53 0 0 1 0 0 ATXN3 4287 broad.mit.edu 37 14 92560118 92560118 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:92560118C>G ENST00000545170.1 - 4 360 c.292G>C c.(292-294)Gag>Cag p.E98Q ATXN3_ENST00000503767.1_Missense_Mutation_p.E83Q|ATXN3_ENST00000340660.6_Missense_Mutation_p.E43Q|ATXN3_ENST00000532032.1_Missense_Mutation_p.E98Q|ATXN3_ENST00000429774.2_Missense_Mutation_p.E83Q|ATXN3_ENST00000502250.1_Intron|ATXN3_ENST00000554491.1_5'UTR|ATXN3_ENST00000393287.5_Missense_Mutation_p.E98Q NM_001164774.1|NM_001164776.1|NM_001164777.1|NM_001164778.1|NM_004993.5 NP_001158246.1|NP_001158248.1|NP_001158249.1|NP_001158250.1|NP_004984.2 P54252 ATX3_HUMAN ataxin 3 98 Josephin. cell death|nervous system development|nucleotide-excision repair|regulation of transcription, DNA-dependent|synaptic transmission|transcription, DNA-dependent cytoplasm|nuclear matrix|nucleoplasm cysteine-type peptidase activity|protein binding endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1) 12 all_cancers(154;0.0768) COAD - Colon adenocarcinoma(157;0.224) CTCTGATACTCTGGACTGTTG 0.333000 15 62 0 0 1 0 0 ZZEF1 23140 broad.mit.edu 37 17 3926119 3926119 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:3926119G>A ENST00000381638.2 - 44 7220 c.7096C>T c.(7096-7098)Cac>Tac p.H2366Y NM_015113.3 NP_055928.3 O43149 ZZEF1_HUMAN zinc finger, ZZ-type with EF-hand domain 1 2366 calcium ion binding|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 84 TCAAAACCGTGAGCCTGCCAA 0.453000 13 53 0 0 1 0 0 PIK3CA 5290 broad.mit.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A rs104886003 TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 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) 10 32 0 0 1 0 0 GSR 2936 broad.mit.edu 37 8 30560623 30560623 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:30560623C>T ENST00000221130.5 - 5 717 c.627G>A c.(625-627)gaG>gaA p.E209E GSR_ENST00000541648.1_Silent_p.E209E|GSR_ENST00000414019.1_Silent_p.E166E|GSR_ENST00000537535.1_Silent_p.E209E|GSR_ENST00000546342.1_Silent_p.E209E NM_000637.3|NM_001195102.1|NM_001195103.1 NP_000628.2|NP_001182031.1|NP_001182032.1 P00390 GSHR_HUMAN glutathione reductase 209 cell redox homeostasis|nucleobase, nucleoside and nucleotide interconversion cytosol|mitochondrion electron carrier activity|glutathione-disulfide reductase activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2) 23 KIRC - Kidney renal clear cell carcinoma(542;0.105)|Kidney(114;0.125) Carmustine(DB00262)|Glutathione(DB00143)|NADH(DB00157) GGATCTGGCTCTCATGAGGGG 0.527000 37 113 0 0 1 0 0 GSTM5 2949 broad.mit.edu 37 1 110256084 110256084 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:110256084C>T ENST00000369813.1 + 2 938 c.33C>T c.(31-33)ttC>ttT p.F11F GSTM5_ENST00000369812.5_Silent_p.F71F|GSTM5_ENST00000256593.3_Intron P46439 GSTM5_HUMAN glutathione S-transferase mu 5 0 GST N-terminal. xenobiotic metabolic process endoplasmic reticulum membrane glutathione transferase activity NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2) 21 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228) Glutathione(DB00143) AACTGAGCTTCCCCGGTTTCC 0.577000 9 198 0 0 1 0 0 GPR179 440435 broad.mit.edu 37 17 36485920 36485920 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:36485920C>G ENST00000342292.4 - 11 3552 c.3532G>C c.(3532-3534)Gac>Cac p.D1178H NM_001004334.2 NP_001004334.2 Q6PRD1 GP179_HUMAN G protein-coupled receptor 179 1178 integral to membrane|plasma membrane G-protein coupled receptor activity breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) CTGCCTCTGTCTTCTTGTTCC 0.552000 73 248 0 0 1 0 0 CSF2RA 1438 broad.mit.edu 37 X 1419439 1419439 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chrX:1419439G>C ENST00000381524.3 + 10 1052 c.866G>C c.(865-867)aGa>aCa p.R289T CSF2RA_ENST00000432318.2_Missense_Mutation_p.R289T|CSF2RA_ENST00000355805.2_Intron|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000355432.3_Missense_Mutation_p.R289T|CSF2RA_ENST00000381509.3_Missense_Mutation_p.R289T|CSF2RA_ENST00000501036.2_Missense_Mutation_p.R156T|CSF2RA_ENST00000381500.1_Missense_Mutation_p.R289T|CSF2RA_ENST00000417535.2_Missense_Mutation_p.R289T|CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000361536.3_Missense_Mutation_p.R289T|CSF2RA_ENST00000381529.3_Missense_Mutation_p.R289T P15509 CSF2R_HUMAN colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) 289 extracellular region|integral to plasma membrane cytokine receptor activity central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 45 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Sargramostim(DB00020) TCTGAGCCCAGAGCAAAACAC 0.448000 29 101 0 0 1 0 0 ZNF77 58492 broad.mit.edu 37 19 2939284 2939284 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:2939284G>C ENST00000314531.4 - 2 217 c.125C>G c.(124-126)tCc>tGc p.S42C NM_021217.2 NP_067040.1 Q15935 ZNF77_HUMAN zinc finger protein 77 42 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|zinc ion binding breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1) 17 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18) CTTACCCAAGGAGGCAAGGTT 0.567000 18 61 0 0 1 0 0 TFPI2 7980 broad.mit.edu 37 7 93516176 93516176 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:93516176G>A ENST00000222543.5 - 5 976 c.664C>T c.(664-666)Cgc>Tgc p.R222C TFPI2_ENST00000545378.1_Missense_Mutation_p.R111C|GNGT1_ENST00000455502.1_Intron NM_001271003.1|NM_001271004.1|NM_006528.3 NP_001257932.1|NP_001257933.1|NP_006519.1 P48307 TFPI2_HUMAN tissue factor pathway inhibitor 2 222 blood coagulation proteinaceous extracellular matrix extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity p.R222C(1) endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 14 all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218) STAD - Stomach adenocarcinoma(171;0.000967) CTGGCAAAGCGAAGCTTTGGC 0.328000 11 52 0 0 1 0 0 LINC00957 255031 broad.mit.edu 37 7 44080405 44080405 + RNA SNP A A G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:44080405A>G ENST00000441052.1 + 0 1090 AGAGGAGGTCACGGTCAGCGC 0.672000 3 5 0 0 1 0 0 NFKBIB 4793 broad.mit.edu 37 19 39398291 39398291 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:39398291G>C ENST00000392079.3 + 5 963 c.865G>C c.(865-867)Gac>Cac p.D289H NFKBIB_ENST00000572515.1_Missense_Mutation_p.D321H|NFKBIB_ENST00000313582.5_Missense_Mutation_p.D321H Q15653 IKBB_HUMAN nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta 321 innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription, DNA-dependent cytosol|nucleus protein binding|signal transducer activity|transcription coactivator activity endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1) 8 all_cancers(60;4.39e-06)|Ovarian(47;0.0454) Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554) CGACAGCGGAGACGAGGGCGT 0.652000 5 24 0 0 1 0 0 ERN2 10595 broad.mit.edu 37 16 23703600 23703600 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr16:23703600G>C ENST00000256797.4 - 18 2465 c.2297C>G c.(2296-2298)tCt>tGt p.S766C ERN2_ENST00000457008.2_Missense_Mutation_p.S666C NM_033266.3 NP_150296.3 Q76MJ5 ERN2_HUMAN endoplasmic reticulum to nucleus signaling 2 718 Protein kinase. apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent endoplasmic reticulum membrane|integral to membrane ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity large_intestine(2)|lung(2)|ovary(2) 6 GBM - Glioblastoma multiforme(48;0.0156) GCTGCCACCAGAAAGCACGTA 0.567000 32 104 0 0 1 0 0 DLEC1 9940 broad.mit.edu 37 3 38158112 38158112 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:38158112C>T ENST00000308059.6 + 28 4046 c.4025C>T c.(4024-4026)tCc>tTc p.S1342F DLEC1_ENST00000346219.3_Missense_Mutation_p.S1342F|DLEC1_ENST00000452631.2_Missense_Mutation_p.S1345F Q9Y238 DLEC1_HUMAN deleted in lung and esophageal cancer 1 1342 negative regulation of cell proliferation cytoplasm NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 51 KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827) CCAGGCCCCTCCAGTTCATCG 0.627000 35 99 0 0 1 0 0 CATSPER1 117144 broad.mit.edu 37 11 65793777 65793777 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:65793777G>C ENST00000312106.5 - 1 211 c.74C>G c.(73-75)tCt>tGt p.S25C NM_053054.3 NP_444282.3 Q8NEC5 CTSR1_HUMAN cation channel, sperm associated 1 25 cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane protein binding breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 44 TGATGAGTGAGAGCGAAAGAA 0.542000 33 132 0 0 1 0 0 UGGT1 56886 broad.mit.edu 37 2 128939716 128939716 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:128939716G>A ENST00000375990.3 + 37 4427 c.4024G>A c.(4024-4026)Gat>Aat p.D1342N UGGT1_ENST00000259253.6_Missense_Mutation_p.D1366N Q9NYU2 UGGG1_HUMAN UDP-glucose glycoprotein glucosyltransferase 1 1366 Glucosyltransferase (By similarity). 'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 63 TGTACGAACAGATCTGAAAGA 0.428000 32 94 0 0 1 0 0 UBOX5 22888 broad.mit.edu 37 20 3102035 3102035 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr20:3102035G>A ENST00000217173.2 - 3 1721 c.1250C>T c.(1249-1251)tCg>tTg p.S417L UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000348031.2_Missense_Mutation_p.S417L NM_001267584.1|NM_014948.3 NP_001254513.1|NP_055763.1 O94941 RNF37_HUMAN U-box domain containing 5 417 nucleus|ubiquitin ligase complex ubiquitin-protein ligase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1) 20 ATTACCTGTCGAGCAGTCCAT 0.527000 12 55 0 0 1 0 0 AHNAK 79026 broad.mit.edu 37 11 62293224 62293224 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:62293224C>G ENST00000378024.4 - 5 8939 c.8665G>C c.(8665-8667)Gac>Cac p.D2889H AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron NM_001620.1 NP_001611.1 Q09666 AHNK_HUMAN AHNAK nucleoprotein 2889 nervous system development nucleus protein binding NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 268 Melanoma(852;0.155) AGGTGCCAGTCTGGACCCTGA 0.517000 82 258 0 0 1 0 0 MTMR4 9110 broad.mit.edu 37 17 56569025 56569025 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:56569025C>T ENST00000323456.5 - 19 3711 c.3587G>A c.(3586-3588)tGa>tAa p.*1196* MTMR4_ENST00000579925.1_Silent_p.*1139* NM_004687.4 NP_004678.3 Q9NYA4 MTMR4_HUMAN myotubularin related protein 4 0 cytoplasm|membrane metal ion binding|protein tyrosine phosphatase activity breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5) 36 Medulloblastoma(34;0.127)|all_neural(34;0.237) CCCCGGCATTCAACTGGAAGC 0.468000 19 57 0 0 1 0 0 FUT10 84750 broad.mit.edu 37 8 33310999 33310999 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:33310999C>T ENST00000327671.5 - 3 742 c.111G>A c.(109-111)agG>agA p.R37R FUT10_ENST00000518672.1_Silent_p.R9R|FUT10_ENST00000335589.3_5'UTR|FUT10_ENST00000524021.1_Silent_p.R9R|FUT10_ENST00000518076.1_5'UTR NM_032664.3 NP_116053.3 Q6P4F1 FUT10_HUMAN fucosyltransferase 10 (alpha (1,3) fucosyltransferase) 37 embryo development|fertilization|hemopoiesis|L-fucose catabolic process|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing Golgi cisterna membrane|integral to membrane alpha(1,3)-fucosyltransferase activity cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2) 29 KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154) TAAACTCCTTCCTTTCAAACT 0.363000 19 70 0 0 1 0 0 PCDHGC3 5098 broad.mit.edu 37 5 140857358 140857358 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:140857358G>A ENST00000308177.3 + 1 1779 c.1675G>A c.(1675-1677)Gat>Aat p.D559N PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron NM_002588.2|NM_032402.1 NP_002579.2|NP_115778.1 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1) 29 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) ATTTGTCACTGATCGCAATGA 0.557000 OREG0016865 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 26 80 0 0 1 0 0 PARD3B 117583 broad.mit.edu 37 2 206166207 206166207 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:206166207C>T ENST00000406610.2 + 18 2619 c.2412C>T c.(2410-2412)agC>agT p.S804S PARD3B_ENST00000351153.1_Silent_p.S735S|PARD3B_ENST00000462231.1_Silent_p.S804S|PARD3B_ENST00000358768.2_Silent_p.S742S|PARD3B_ENST00000349953.3_Silent_p.S804S NM_057177.6|NM_152526.5|NM_205863.3 NP_476518.4|NP_689739.4|NP_995585.2 Q8TEW8 PAR3L_HUMAN par-3 family cell polarity regulator beta 804 cell cycle|cell division endomembrane system|tight junction breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4) 65 all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06) Epithelial(149;0.0739) CTGATAAGAGCTCTCACTCTG 0.443000 31 82 0 0 1 0 0 OR4C16 219428 broad.mit.edu 37 11 55340229 55340229 + Missense_Mutation SNP A A C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:55340229A>C ENST00000314634.3 + 1 626 c.626A>C c.(625-627)tAt>tCt p.Y209S NM_001004701.2 NP_001004701.2 Q8NGL9 OR4CG_HUMAN olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene) 209 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 41 all_epithelial(135;0.0748) GCAGTGAGTTATGTCATGCTA 0.433000 17 45 0 0 1 0 0 TSC1 7248 broad.mit.edu 37 9 135778026 135778026 + Missense_Mutation SNP C C T rs118203683 TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:135778026C>T ENST00000298552.3 - 18 2578 c.2357G>A c.(2356-2358)cGa>cAa p.R786Q TSC1_ENST00000545250.1_Missense_Mutation_p.R735Q|TSC1_ENST00000440111.2_Missense_Mutation_p.R786Q NM_000368.4|NM_001162426.1|NM_001162427.1 NP_000359.1|NP_001155898.1|NP_001155899.1 Q92574 TSC1_HUMAN tuberous sclerosis 1 786 activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus cell cortex|lamellipodium|membrane|TSC1-TSC2 complex chaperone binding|protein N-terminus binding p.?(1) NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4) 65 OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06) GAATTCCTCTCGGTCATGCTG 0.527000 """D, Mis, N, F, S""" """hamartoma, renal cell""" Tuberous Sclerosis OREG0019577 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 39 141 0 0 1 0 0 DYTN 391475 broad.mit.edu 37 2 207559580 207559580 + Silent SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:207559580G>C ENST00000452335.2 - 8 857 c.741C>G c.(739-741)ctC>ctG p.L247L NM_001093730.1 NP_001087199.1 A2CJ06 DYTN_HUMAN dystrotelin 247 plasma membrane zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1) 36 LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153) TGTCAAAGTTGAGACACTTCA 0.393000 18 47 0 0 1 0 0 DSCAM 1826 broad.mit.edu 37 21 41561016 41561016 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr21:41561016G>C ENST00000400454.1 - 12 2983 c.2506C>G c.(2506-2508)Ctt>Gtt p.L836V NM_001271534.1|NM_001389.3 NP_001258463.1|NP_001380.2 O60469 DSCAM_HUMAN Down syndrome cell adhesion molecule 836 Ig-like C2-type 9. cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction protein binding NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4) 142 all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103) GTGGACACAAGATAACGGGCC 0.473000 39 113 0 0 1 0 0 ZC3H14 79882 broad.mit.edu 37 14 89061436 89061436 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:89061436C>T ENST00000555900.1 + 1 678 c.366C>T c.(364-366)ttC>ttT p.F122F ZC3H14_ENST00000556945.1_Intron|ZC3H14_ENST00000251038.5_Intron|ZC3H14_ENST00000359301.3_Intron|ZC3H14_ENST00000336693.4_Intron|ZC3H14_ENST00000557607.1_Intron|ZC3H14_ENST00000555755.1_Intron|ZC3H14_ENST00000318308.6_Silent_p.F122F|ZC3H14_ENST00000406216.3_Silent_p.F122F|ZC3H14_ENST00000393514.5_Intron|ZC3H14_ENST00000302216.8_Intron Q6PJT7 ZC3HE_HUMAN zinc finger CCCH-type containing 14 560 cytoplasm|nuclear speck protein binding|RNA binding|zinc ion binding cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2) 21 TAATCGGCTTCCTTAGAAACG 0.343000 6 37 0 0 1 0 0 TSC22D2 9819 broad.mit.edu 37 3 150127514 150127514 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:150127514C>G ENST00000361875.3 + 1 1393 c.377C>G c.(376-378)aCt>aGt p.T126S TSC22D2_ENST00000361136.2_Missense_Mutation_p.T126S NM_014779.2 NP_055594.1 O75157 T22D2_HUMAN TSC22 domain family, member 2 sequence-specific DNA binding transcription factor activity cervix(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1) 18 LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066) GCGGCTGCCACTTCGGCCCCC 0.741000 23 47 0 0 1 0 0 HEXIM1 10614 broad.mit.edu 37 17 43227467 43227467 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:43227467G>A ENST00000332499.2 + 1 2784 c.910G>A c.(910-912)Gag>Aag p.E304K NM_006460.2 NP_006451.1 O94992 HEXI1_HUMAN hexamethylene bis-acetamide inducible 1 304 Mediates interaction with CCNT1. negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding p.E304K(1) breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 CATGGAGGACGAGAACAACCG 0.647000 16 163 0 0 1 0 0 OR4C15 81309 broad.mit.edu 37 11 55321997 55321997 + Missense_Mutation SNP A A T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:55321997A>T ENST00000314644.2 + 1 215 c.215A>T c.(214-216)aAt>aTt p.N72I NM_001001920.1 NP_001001920.1 Q8NGM1 OR4CF_HUMAN olfactory receptor, family 4, subfamily C, member 15 18 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5) 56 CTTTCACAGAATCCAAATGTT 0.398000 HNSCC(20;0.049) 35 96 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76496512 76496512 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:76496512G>C ENST00000389840.5 - 36 5597 c.5473C>G c.(5473-5475)Ctc>Gtc p.L1825V DNAH17_ENST00000585328.1_Missense_Mutation_p.L1834V|DNAH17-AS1_ENST00000598378.1_Missense_Mutation_p.E148D dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) CCCATGATGAGATGGAGGGAC 0.592000 12 19 0 0 1 0 0 TWSG1 57045 broad.mit.edu 37 18 9396492 9396492 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr18:9396492G>C ENST00000262120.5 + 4 629 c.438G>C c.(436-438)caG>caC p.Q146H TWSG1_ENST00000581641.1_Missense_Mutation_p.Q146H NM_020648.5 NP_065699.1 Q9GZX9 TWSG1_HUMAN twisted gastrulation BMP signaling modulator 1 146 breast(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|pancreas(2) 10 CACACCACCAGAATGTGTCTG 0.443000 17 60 0 0 1 0 0 C11orf83 790955 broad.mit.edu 37 11 62439326 62439326 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:62439326G>A ENST00000531323.1 + 2 652 c.109G>A c.(109-111)Gaa>Aaa p.E37K C11orf83_ENST00000377953.3_Missense_Mutation_p.E37K Q6UW78 CK083_HUMAN chromosome 11 open reading frame 83 37 extracellular region cervix(1)|lung(1)|prostate(1) 3 GCGGAAGCAGGAAATGCTAAA 0.632000 21 62 0 0 1 0 0 SLC13A5 284111 broad.mit.edu 37 17 6589554 6589554 + Nonsense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:6589554C>T ENST00000433363.2 - 12 1912 c.1679G>A c.(1678-1680)tGg>tAg p.W560* SLC13A5_ENST00000381074.4_Nonsense_Mutation_p.W517*|SLC13A5_ENST00000573648.1_Nonsense_Mutation_p.W514*|SLC13A5_ENST00000293800.6_Nonsense_Mutation_p.W543* NM_001284510.1|NM_177550.3 NP_001271439.1|NP_808218.1 Q86YT5 S13A5_HUMAN solute carrier family 13 (sodium-dependent citrate transporter), member 5 560 integral to membrane citrate transmembrane transporter activity breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1) 26 CACATTAGCCCAGTCAGGGAA 0.473000 36 126 0 0 1 0 0 NEK7 140609 broad.mit.edu 37 1 198225575 198225575 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:198225575G>C ENST00000367383.1 + 4 500 c.316G>C c.(316-318)Gaa>Caa p.E106Q NEK7_ENST00000538004.1_Intron|NEK7_ENST00000367385.4_Intron Q8TDX7 NEK7_HUMAN NIMA-related kinase 7 0 Protein kinase. cytoplasm ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity endometrium(3)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 21 CAATCTTTTTGAAAATTTACC 0.333000 3 30 0 0 1 0 0 NBPF1 55672 broad.mit.edu 37 1 16893824 16893824 + Nonstop_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:16893824C>G ENST00000432949.1 - 8 898 c.899G>C c.(898-900)tGa>tCa p.*300S NBPF1_ENST00000430580.2_Missense_Mutation_p.E897Q|NBPF1_ENST00000420031.2_3'UTR Q3BBV0 NBPF1_HUMAN neuroblastoma breakpoint family, member 1 0 cytoplasm UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179) GGCCCTTTCTCATCCAGCAGC 0.488000 25 756 0 0 1 0 0 HLA-DQA2 3118 broad.mit.edu 37 6 32713004 32713004 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:32713004G>A ENST00000374940.3 + 2 253 c.151G>A c.(151-153)Gaa>Aaa p.E51K NM_020056.4 NP_064440.1 P01906 DQA2_HUMAN major histocompatibility complex, class II, DQ alpha 2 51 Alpha-1. antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex MHC class II receptor activity endometrium(2)|large_intestine(3)|lung(7)|skin(1) 13 Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GTACACCCATGAATTTGATGG 0.502000 46 143 0 0 1 0 0 ATG14 22863 broad.mit.edu 37 14 55852644 55852644 + Nonsense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:55852644G>A ENST00000247178.5 - 5 615 c.580C>T c.(580-582)Cga>Tga p.R194* NM_014924.4 NP_055739.2 Q6ZNE5 BAKOR_HUMAN autophagy related 14 194 autophagic vacuole assembly|positive regulation of autophagy autophagic vacuole|endoplasmic reticulum|pre-autophagosomal structure membrane protein binding central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(2) 13 TGGGATCGTCGAAGATTTGCC 0.408000 8 30 0 0 1 0 0 SUCO 51430 broad.mit.edu 37 1 172560143 172560143 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:172560143G>C ENST00000367723.4 + 18 3422 c.3298G>C c.(3298-3300)Gaa>Caa p.E1100Q SUCO_ENST00000610051.1_Missense_Mutation_p.E578Q|SUCO_ENST00000263688.3_Missense_Mutation_p.E949Q|SUCO_ENST00000608151.1_Missense_Mutation_p.E1101Q NM_016227.2 NP_057311.3 SUN domain containing ossification factor ACAAATGGAAGAAATGCAAAA 0.318000 13 48 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76490238 76490238 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:76490238G>A ENST00000389840.5 - 41 6370 c.6246C>T c.(6244-6246)atC>atT p.I2082I DNAH17_ENST00000585328.1_Silent_p.I2091I|RP11-559N14.5_ENST00000591373.1_RNA|RP11-559N14.5_ENST00000585969.1_RNA dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) TGAGCTCCACGATGCTCTGCT 0.602000 27 21 0 0 1 0 0 NET1 10276 broad.mit.edu 37 10 5498204 5498204 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:5498204C>G ENST00000355029.4 + 11 1494 c.1352C>G c.(1351-1353)tCc>tGc p.S451C NET1_ENST00000380359.3_Missense_Mutation_p.S397C|NET1_ENST00000484741.1_3'UTR|NET1_ENST00000542715.1_Missense_Mutation_p.S270C NM_001047160.2 NP_001040625.1 Q7Z628 ARHG8_HUMAN neuroepithelial cell transforming 1 451 PH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|nucleus Rho guanyl-nucleotide exchange factor activity breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1) 23 ATGGGAGGCTCCTTTCGAGGA 0.458000 13 47 0 0 1 0 0 MIR7162 102466227 broad.mit.edu 37 15 62539300 62539300 + RNA SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr15:62539300C>G ENST00000570077.1 - 0 289 TCTCCTCCCTCAACGTGTGCA 0.602000 13 23 0 0 1 0 0 STX16 8675 broad.mit.edu 37 20 57245657 57245657 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr20:57245657C>T ENST00000371141.4 + 6 1370 c.646C>T c.(646-648)Cgg>Tgg p.R216W STX16-NPEPL1_ENST00000530122.1_Missense_Mutation_p.R216W|STX16_ENST00000355957.5_Missense_Mutation_p.R199W|STX16_ENST00000358029.4_Missense_Mutation_p.R212W|STX16_ENST00000359617.4_Missense_Mutation_p.R163W|STX16_ENST00000361830.3_Missense_Mutation_p.R216W|STX16_ENST00000371132.4_Missense_Mutation_p.R195W|STX16_ENST00000496003.1_3'UTR|STX16_ENST00000361770.5_Missense_Mutation_p.R199W NM_001001433.2 NP_001001433.1 O14662 STX16_HUMAN syntaxin 16 216 intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde transport, endosome to Golgi Golgi membrane|integral to membrane|microsome|SNARE complex SNAP receptor activity breast(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(1) 17 all_lung(29;0.0175) BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05) TCTTTACCATCGGGTACGTGA 0.473000 20 63 0 0 1 0 0 ABCB9 23457 broad.mit.edu 37 12 123424766 123424766 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:123424766C>T ENST00000542678.1 - 9 4473 c.1635G>A c.(1633-1635)aaG>aaA p.K545K ABCB9_ENST00000344275.7_Silent_p.K545K|ABCB9_ENST00000442833.2_Silent_p.K545K|ABCB9_ENST00000280560.8_Silent_p.K545K|ABCB9_ENST00000346530.5_Silent_p.K502K|ABCB9_ENST00000540285.1_Silent_p.K482K|ABCB9_ENST00000392439.3_Silent_p.K545K|ABCB9_ENST00000442028.2_Silent_p.K545K|ABCB9_ENST00000541983.1_5'UTR Q9NP78 ABCB9_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 9 545 ABC transporter. positive regulation of T cell mediated cytotoxicity|protein transport lysosomal membrane|plasma membrane|TAP complex ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1) 18 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111) CACAGGAGCTCTTCCCACTGC 0.627000 11 48 0 0 1 0 0 CD34 947 broad.mit.edu 37 1 208062850 208062850 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:208062850C>T ENST00000356522.4 - 5 1035 c.714G>A c.(712-714)gtG>gtA p.V238V CD34_ENST00000485761.1_5'UTR|CD34_ENST00000367036.3_Silent_p.V80V|CD34_ENST00000310833.7_Silent_p.V238V|CD34_ENST00000537704.1_Silent_p.V103V NM_001773.2 NP_001764.1 P28906 CD34_HUMAN CD34 molecule 238 cell-cell adhesion|leukocyte migration|regulation of immune response integral to membrane carbohydrate binding kidney(2)|large_intestine(2)|lung(8)|ovary(1) 13 ACTGAGGCCTCACCTCAGACT 0.612000 11 37 0 0 1 0 0 MATK 4145 broad.mit.edu 37 19 3779175 3779175 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:3779175C>G ENST00000310132.6 - 12 1410 c.1012G>C c.(1012-1014)Gag>Cag p.E338Q MATK_ENST00000395045.2_Missense_Mutation_p.E339Q|MATK_ENST00000585778.1_Missense_Mutation_p.E338Q|MATK_ENST00000395040.2_Missense_Mutation_p.E297Q NM_139355.2 NP_647612.1 P42679 MATK_HUMAN megakaryocyte-associated tyrosine kinase 338 Protein kinase. cell proliferation|mesoderm development|positive regulation of cell proliferation cytoplasm|nucleus ATP binding|non-membrane spanning protein tyrosine kinase activity central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1) 26 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18) TCCATGCCCTCGGCCACGTGC 0.652000 4 20 0 0 1 0 0 CCR10 2826 broad.mit.edu 37 17 40831665 40831665 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:40831665G>A ENST00000591765.1 - 2 1714 c.329C>T c.(328-330)tCa>tTa p.S110L CCR10_ENST00000332438.4_Missense_Mutation_p.S332L P46092 CCR10_HUMAN chemokine (C-C motif) receptor 10 332 integral to plasma membrane lung(1)|ovary(1)|skin(1) 3 Breast(137;0.000153) BRCA - Breast invasive adenocarcinoma(366;0.14) TTGAGGCCCTGAGGGGCAGCT 0.711000 12 49 0 0 1 0 0 ARHGEF15 22899 broad.mit.edu 37 17 8222686 8222686 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:8222686C>T ENST00000361926.3 + 14 2353 c.2243C>T c.(2242-2244)tCc>tTc p.S748F ARHGEF15_ENST00000421050.1_Missense_Mutation_p.S748F NM_173728.3 NP_776089.2 O94989 ARHGF_HUMAN Rho guanine nucleotide exchange factor (GEF) 15 748 negative regulation of synapse maturation|regulation of Rho protein signal transduction dendrite|intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1) 37 CTTCCCTGCTCCCCAGACACC 0.552000 62 178 0 0 1 0 0 SCUBE1 80274 broad.mit.edu 37 22 43634787 43634787 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr22:43634787G>A ENST00000290460.7 - 8 1052 c.991C>T c.(991-993)Ccg>Tcg p.P331S Z82214.2_ENST00000419643.1_RNA|SCUBE1_ENST00000360835.4_Intron Q8IWY4 SCUB1_HUMAN signal peptide, CUB domain, EGF-like 1 0 EGF-like 8; calcium-binding (Potential). adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization external side of plasma membrane|extracellular space|extrinsic to plasma membrane calcium ion binding|identical protein binding|protein heterodimerization activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_neural(38;0.0414)|Ovarian(80;0.07) CAAGCACACGGAGGCTCTTGG 0.617000 11 27 0 0 1 0 0 ABCA8 10351 broad.mit.edu 37 17 66890331 66890331 + Nonsense_Mutation SNP T T A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:66890331T>A ENST00000269080.2 - 21 3036 c.2899A>T c.(2899-2901)Aga>Tga p.R967* ABCA8_ENST00000430352.2_Nonsense_Mutation_p.R1007*|ABCA8_ENST00000586539.1_Nonsense_Mutation_p.R1007* NM_007168.2 NP_009099.1 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A (ABC1), member 8 967 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4) 83 Breast(10;4.56e-13) AATGTACTTCTTTCAGTTCGG 0.368000 5 25 0 0 1 0 0 SLC45A1 50651 broad.mit.edu 37 1 8399747 8399747 + Nonsense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:8399747C>T ENST00000471889.1 + 8 2354 c.1969C>T c.(1969-1971)Cag>Tag p.Q657* SLC45A1_ENST00000377479.2_Nonsense_Mutation_p.Q691*|SLC45A1_ENST00000289877.8_Nonsense_Mutation_p.Q657* Q9Y2W3 S45A1_HUMAN solute carrier family 45, member 1 657 carbohydrate transport integral to membrane symporter activity central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2) 33 Ovarian(185;0.0661)|all_lung(157;0.127) all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649) CGATTACTATCAGAGTAAGAA 0.527000 44 148 0 0 1 0 0 MIB2 142678 broad.mit.edu 37 1 1551937 1551937 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:1551937C>T ENST00000357210.4 + 2 269 c.53C>T c.(52-54)tCa>tTa p.S18L MIB2_ENST00000504599.1_5'UTR|MIB2_ENST00000518681.1_Missense_Mutation_p.S75L|MIB2_ENST00000378712.1_5'UTR|MIB2_ENST00000378710.3_Missense_Mutation_p.S18L|MIB2_ENST00000520777.1_Missense_Mutation_p.S75L|MIB2_ENST00000360522.4_Missense_Mutation_p.S18L|MIB2_ENST00000355826.5_Missense_Mutation_p.S75L|MIB2_ENST00000505820.2_Missense_Mutation_p.S75L NM_080875.2 NP_543151.2 Q96AX9 MIB2_HUMAN mindbomb E3 ubiquitin protein ligase 2 18 Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade endosome actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1) 18 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) TTCCAGGCATCAGGGCTGCAG 0.652000 13 27 0 0 1 0 0 SETBP1 26040 broad.mit.edu 37 18 42530198 42530198 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr18:42530198C>T ENST00000282030.5 + 4 1189 c.893C>T c.(892-894)tCa>tTa p.S298L NM_015559.2 NP_056374.2 Q9Y6X0 SETBP_HUMAN SET binding protein 1 298 nucleus DNA binding NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 104 Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201) AGCCACAGCTCACCAGCCCCA 0.567000 Schinzel-Giedion syndrome 22 88 0 0 1 0 0 SAMD9 54809 broad.mit.edu 37 7 92732279 92732279 + Missense_Mutation SNP T T A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:92732279T>A ENST00000379958.2 - 3 3401 c.3132A>T c.(3130-3132)gaA>gaT p.E1044D NM_001193307.1|NM_017654.3 NP_001180236.1|NP_060124.2 Q5K651 SAMD9_HUMAN sterile alpha motif domain containing 9 1044 cytoplasm NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 88 all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125) STAD - Stomach adenocarcinoma(171;0.000302) CTGTTTCACCTTCATGTTCAT 0.378000 19 35 0 0 1 0 0 SH3BP4 23677 broad.mit.edu 37 2 235962340 235962340 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:235962340G>A ENST00000409212.1 + 6 3279 c.2772G>A c.(2770-2772)atG>atA p.M924I SH3BP4_ENST00000344528.4_Missense_Mutation_p.M924I|SH3BP4_ENST00000392011.2_Missense_Mutation_p.M924I Q9P0V3 SH3B4_HUMAN SH3-domain binding protein 4 924 endocytosis clathrin-coated vesicle|coated pit|nucleus protein binding central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2) 44 Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419) Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237) TGGACAAGATGAAAAACCCCA 0.582000 49 153 0 0 1 0 0 HERC1 8925 broad.mit.edu 37 15 63916468 63916468 + Missense_Mutation SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr15:63916468G>T ENST00000443617.2 - 72 13421 c.13334C>A c.(13333-13335)cCt>cAt p.P4445H NM_003922.3 NP_003913.3 Q15751 HERC1_HUMAN HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 4445 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 132 GGCTAACAAAGGCCGAAGTTG 0.453000 31 75 5.60225e-13 5.894e-13 1 1 0 RET 5979 broad.mit.edu 37 10 43615571 43615571 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:43615571G>A ENST00000355710.3 + 15 2882 c.2650G>A c.(2650-2652)Gag>Aag p.E884K RET_ENST00000340058.5_Missense_Mutation_p.E884K NM_020975.4 NP_066124.1 P07949 RET_HUMAN ret proto-oncogene 884 Protein kinase. homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development integral to membrane ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity p.E884K(1) CCDC6/RET(4)|KIF5B/RET(79) NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1) 607 Ovarian(717;0.0423) Sunitinib(DB01268) CCTGGTAGCTGAGGGGCGGAA 0.562000 1 """T, Mis, N, F""" """H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6""" """medullary thyroid, papillary thyroid, pheochromocytoma, NSCLC""" """medullary thyroid, papillary thyroid, pheochromocytoma""" Hirschsprung disease Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma 12 35 0 0 1 0 0 ATF6 22926 broad.mit.edu 37 1 161753803 161753803 + Nonsense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:161753803C>T ENST00000367942.3 + 4 338 c.271C>T c.(271-273)Cag>Tag p.Q91* NM_007348.3 NP_031374.2 P18850 ATF6A_HUMAN activating transcription factor 6 91 Transcription activation. positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1) 34 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.00953) GGCAGAACCTCAGCCACTTTC 0.398000 24 110 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179478785 179478785 + Nonsense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:179478785G>A ENST00000589042.1 - 262 49563 c.49339C>T c.(49339-49341)Cag>Tag p.Q16447* TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.Q13879*|TTN_ENST00000591111.1_Nonsense_Mutation_p.Q14806*|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Nonsense_Mutation_p.Q7382*|TTN_ENST00000342175.6_Nonsense_Mutation_p.Q7574*|TTN_ENST00000359218.5_Nonsense_Mutation_p.Q7507* NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 14806 Fibronectin type-III 19. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTACCAAACTGATATTTGGCT 0.343000 7 19 0 0 1 0 0 MAGI3 260425 broad.mit.edu 37 1 114189165 114189165 + Nonsense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:114189165C>T ENST00000369615.1 + 12 2118 c.2056C>T c.(2056-2058)Cag>Tag p.Q686* MAGI3_ENST00000307546.9_Nonsense_Mutation_p.Q686*|MAGI3_ENST00000369611.4_Nonsense_Mutation_p.Q686*|MAGI3_ENST00000369617.4_Nonsense_Mutation_p.Q711* NM_152900.2 NP_690864.2 Q5TCQ9 MAGI3_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 3 711 apoptosis|interspecies interaction between organisms|intracellular signal transduction nucleus|tight junction ATP binding|guanylate kinase activity|protein binding NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 41 Lung SC(450;0.184) all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GCCTATTCCTCAGCCTATGCC 0.383000 8 45 0 0 1 0 0 RIMS1 22999 broad.mit.edu 37 6 72957812 72957812 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:72957812C>T ENST00000264839.7 + 12 2223 c.2223C>T c.(2221-2223)gtC>gtT p.V741V RIMS1_ENST00000425662.2_Silent_p.V134V|RIMS1_ENST00000491071.2_Silent_p.V741V|RIMS1_ENST00000523963.1_Silent_p.V215V|RIMS1_ENST00000518273.1_Silent_p.V741V|RIMS1_ENST00000517827.1_Silent_p.V200V|RIMS1_ENST00000348717.5_Silent_p.V741V|RIMS1_ENST00000517960.1_Silent_p.V741V|RIMS1_ENST00000522291.1_Silent_p.V741V|RIMS1_ENST00000521978.1_Silent_p.V741V|RIMS1_ENST00000520567.1_Silent_p.V741V|RIMS1_ENST00000401910.3_Silent_p.V215V Q86UR5 RIMS1_HUMAN regulating synaptic membrane exocytosis 1 741 calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception cell junction|presynaptic membrane metal ion binding|Rab GTPase binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 102 all_epithelial(107;0.179)|all_hematologic(105;0.212) CCCCACAAGTCTTACCAGGGC 0.398000 13 43 0 0 1 0 0 CD46 4179 broad.mit.edu 37 1 207966935 207966935 + Nonstop_Mutation SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:207966935G>T ENST00000322875.4 + 13 1355 c.1199G>T c.(1198-1200)tGa>tTa p.*400L CD46_ENST00000441839.2_Nonsense_Mutation_p.E364*|CD46_ENST00000322918.5_Nonsense_Mutation_p.E349*|CD46_ENST00000367042.1_3'UTR|CD46_ENST00000354848.1_Nonstop_Mutation_p.*385L|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000358170.2_3'UTR|CD46_ENST00000367041.1_3'UTR|CD46_ENST00000361067.1_Nonstop_Mutation_p.*386L|CD46_ENST00000480003.1_Nonstop_Mutation_p.*371L|CD46_ENST00000367047.1_Nonstop_Mutation_p.*337L|CD46_ENST00000360212.2_Nonstop_Mutation_p.*356L|CD46_ENST00000357714.1_Nonstop_Mutation_p.*370L NM_172359.2 NP_758869.1 P15529 MCP_HUMAN CD46 molecule, complement regulatory protein 0 complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization inner acrosomal membrane|integral to plasma membrane protein binding|receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1) 19 CAGAGAGGCTGAATAGATTCC 0.413000 12 28 1.08611e-07 1.12729e-07 1 1 0 ACTL6B 51412 broad.mit.edu 37 7 100245112 100245112 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:100245112C>T ENST00000160382.5 - 8 820 c.714G>A c.(712-714)gaG>gaA p.E238E NM_016188.4 NP_057272.1 O94805 ACL6B_HUMAN actin-like 6B 238 chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nBAF complex|SWI/SNF complex ATP binding|protein binding|structural constituent of cytoskeleton endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1) 13 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) GGGGTAGCTTCTCCTTCTTCT 0.612000 27 99 0 0 1 0 0 KDM5C 8242 broad.mit.edu 37 X 53222481 53222481 + Silent SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chrX:53222481G>T ENST00000375401.3 - 26 4883 c.4351C>A c.(4351-4353)Cgg>Agg p.R1451R KDM5C_ENST00000404049.3_Silent_p.R1450R|KDM5C_ENST00000452825.3_Intron|KDM5C_ENST00000375383.3_Silent_p.R1407R|KDM5C_ENST00000375379.3_Silent_p.R1448R NM_001282622.1|NM_004187.3 NP_001269551.1|NP_004178.2 P41229 KDM5C_HUMAN lysine (K)-specific demethylase 5C 1451 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2) 82 GCCCGGCCCCGAGCCCGACTC 0.677000 """N, F, S""" clear cell renal carcinoma 16 15 1.2644e-06 1.30596e-06 1 1 0 KBTBD8 84541 broad.mit.edu 37 3 67049613 67049613 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:67049613C>T ENST00000295568.4 + 2 278 c.147C>T c.(145-147)ttC>ttT p.F49F KBTBD8_ENST00000469661.1_3'UTR|KBTBD8_ENST00000460576.1_Intron|KBTBD8_ENST00000417314.2_Silent_p.F75F NM_032505.2 NP_115894.2 Q8NFY9 KBTB8_HUMAN kelch repeat and BTB (POZ) domain containing 8 75 BTB. breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1) 20 Lung NSC(201;0.0765) BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125) GCCCTTACTTCAGGTATGATG 0.428000 28 98 0 0 1 0 0 CCDC144A 9720 broad.mit.edu 37 17 16612513 16612513 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:16612513C>T ENST00000443444.2 + 5 1282 c.1142C>T c.(1141-1143)tCt>tTt p.S381F CCDC144A_ENST00000360524.8_Missense_Mutation_p.S381F|CCDC144A_ENST00000456009.1_Intron|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.S381F|CCDC144A_ENST00000399273.1_Missense_Mutation_p.S381F|CCDC144A_ENST00000340621.5_Missense_Mutation_p.S380F A2RUR9 C144A_HUMAN coiled-coil domain containing 144A 381 CATCCATACTCTGGGTCCCAG 0.373000 16 58 0 0 1 0 0 MYH9 4627 broad.mit.edu 37 22 36718557 36718557 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr22:36718557C>T ENST00000216181.5 - 6 852 c.622G>A c.(622-624)Gag>Aag p.E208K NM_002473.4 NP_002464.1 P35579 MYH9_HUMAN myosin, heavy chain 9, non-muscle 208 Myosin head-like. actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 AGCTGCCGCTCCAGCTCGCCC 0.682000 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 37 60 0 0 1 0 0 MUC2 4583 broad.mit.edu 37 11 1088741 1088741 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:1088741G>A ENST00000441003.2 + 26 3553 c.3526G>A c.(3526-3528)Gag>Aag p.E1176K MUC2_ENST00000359061.5_Missense_Mutation_p.E1176K NM_002457.2 NP_002448.2 Q02817 MUC2_HUMAN mucin 2, oligomeric mucus/gel-forming 1176 inner mucus layer|outer mucus layer protein binding NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 102 all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191) BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) Pranlukast(DB01411) CATCTATGAGGAGGATCTGAA 0.612000 4 22 0 0 1 0 0 POLN 353497 broad.mit.edu 37 4 2172900 2172900 + Silent SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr4:2172900G>C ENST00000511885.2 - 12 1736 c.1383C>G c.(1381-1383)ctC>ctG p.L461L POLN_ENST00000515357.1_5'UTR|POLN_ENST00000382865.1_Silent_p.L461L Q7Z5Q5 DPOLN_HUMAN polymerase (DNA directed) nu 461 DNA repair|DNA replication nucleus DNA binding|DNA-directed DNA polymerase activity kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2) 28 OV - Ovarian serous cystadenocarcinoma(23;0.0955) CCAATTCCTTGAGACGAGCCT 0.348000 DNA polymerases (catalytic subunits) 16 73 0 0 1 0 0 IGSF10 285313 broad.mit.edu 37 3 151165065 151165065 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:151165065C>T ENST00000282466.3 - 4 2703 c.2704G>A c.(2704-2706)Gaa>Aaa p.E902K NM_001178145.1|NM_001178146.1|NM_178822.4 NP_001171616.1|NP_001171617.1|NP_849144.2 Q6WRI0 IGS10_HUMAN immunoglobulin superfamily, member 10 902 cell differentiation|multicellular organismal development|ossification extracellular region NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3) 116 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TCCTGAAATTCAGTTGCTCCA 0.413000 74 251 0 0 1 0 0 SERPINB8 5271 broad.mit.edu 37 18 61654502 61654502 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr18:61654502C>T ENST00000397985.2 + 7 1371 c.1115C>T c.(1114-1116)tCt>tTt p.S372F SERPINB8_ENST00000353706.2_Missense_Mutation_p.S372F|SERPINB8_ENST00000493661.1_Intron|SERPINB8_ENST00000542677.1_Missense_Mutation_p.S190F NM_001276490.1 NP_001263419.1 P50452 SPB8_HUMAN serpin peptidase inhibitor, clade B (ovalbumin), member 8 372 regulation of proteolysis cytosol protein binding|serine-type endopeptidase inhibitor activity breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1) 17 Esophageal squamous(42;0.129) GGCAGGTTCTCTTCTCCGTAA 0.473000 19 54 0 0 1 0 0 OR7D2 162998 broad.mit.edu 37 19 9297281 9297281 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:9297281C>T ENST00000344248.2 + 1 1003 c.824C>T c.(823-825)tCg>tTg p.S275L NM_175883.2 NP_787079.1 Q96RA2 OR7D2_HUMAN olfactory receptor, family 7, subfamily D, member 2 275 regulation of transcription, DNA-dependent|sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2) 20 TCCGTGGCCTCGGTGATGTAC 0.547000 32 99 0 0 1 0 0 PIK3R5 23533 broad.mit.edu 37 17 8814740 8814740 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:8814740G>A ENST00000447110.1 - 2 196 c.72C>T c.(70-72)ctC>ctT p.L24L PIK3R5_ENST00000581552.1_Silent_p.L24L|PIK3R5_ENST00000584803.1_Silent_p.L24L NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1 NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1 Q8WYR1 PI3R5_HUMAN phosphoinositide-3-kinase, regulatory subunit 5 24 platelet activation cytosol|membrane|nucleus breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1) 34 GGCTGAGGCTGAGTCCATGCA 0.672000 20 67 0 0 1 0 0 KCNRG 283518 broad.mit.edu 37 13 50590174 50590174 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr13:50590174C>G ENST00000360473.4 + 1 785 c.545C>G c.(544-546)tCt>tGt p.S182C TRIM13_ENST00000378182.3_3'UTR|KCNRG_ENST00000312942.1_Missense_Mutation_p.S182C|TRIM13_ENST00000478111.1_Intron NM_199464.2 NP_955751.1 Q8N5I3 KCNRG_HUMAN potassium channel regulator 182 voltage-gated potassium channel complex identical protein binding|voltage-gated potassium channel activity haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3) 9 Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;1.48e-10)|COAD - Colon adenocarcinoma(199;0.204) CAGTGTGGTTCTGACAGCACT 0.428000 14 47 0 0 1 0 0 KRTAP10-9 386676 broad.mit.edu 37 21 46047228 46047228 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr21:46047228G>A ENST00000397911.3 + 1 189 c.140G>A c.(139-141)tGc>tAc p.C47Y TSPEAR_ENST00000323084.4_Intron|KRTAP10-9_ENST00000484861.1_3'UTR NM_198690.2 NP_941963.2 P60411 KR109_HUMAN keratin associated protein 10-9 47 25 X 5 AA repeats of C-C-X(3). keratin filament endometrium(1)|kidney(1)|large_intestine(1)|lung(6) 9 ACCCTGGTCTGCACCCCAGTG 0.701000 36 146 0 0 1 0 0 KCNN4 3783 broad.mit.edu 37 19 44273668 44273668 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:44273668G>C ENST00000262888.3 - 6 1370 c.975C>G c.(973-975)ttC>ttG p.F325L NM_002250.2 NP_002241.1 O15554 KCNN4_HUMAN potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4 325 Calmodulin-binding. defense response voltage-gated potassium channel complex calcium-activated potassium channel activity|calmodulin binding biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 15 Prostate(69;0.0352) Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468) TATGTTTGTAGAACATCCAGG 0.592000 50 127 0 0 1 0 0 ADAM20 8748 broad.mit.edu 37 14 70989717 70989717 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:70989717G>A ENST00000256389.3 - 2 2152 c.1908C>T c.(1906-1908)ctC>ctT p.L636L RP11-486O13.4_ENST00000556646.1_lincRNA NM_003814.4 NP_003805.3 O43506 ADA20_HUMAN ADAM metallopeptidase domain 20 586 EGF-like. proteolysis|single fertilization integral to membrane metalloendopeptidase activity|zinc ion binding autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2) 27 KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188) all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344) TGGTGTCATTGAGGTGAAACT 0.448000 35 87 0 0 1 0 0 SPATA31E1 286234 broad.mit.edu 37 9 90497818 90497818 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:90497818C>T ENST00000325643.5 + 1 78 c.12C>T c.(10-12)ctC>ctT p.L4L NM_178828.4 NP_849150.3 SPATA31 subfamily E, member 1 TGGGAAATCTCGTCATCCCTC 0.607000 17 39 0 0 1 0 0 DGKE 8526 broad.mit.edu 37 17 54940071 54940071 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:54940071G>A ENST00000284061.3 + 12 1803 c.1623G>A c.(1621-1623)atG>atA p.M541I NM_003647.2 NP_003638.1 P52429 DGKE_HUMAN diacylglycerol kinase, epsilon 64kDa 541 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation integral to membrane|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1) 25 Breast(9;3.59e-07) CACATGCAATGATGTTATATT 0.453000 18 10 0 0 1 0 0 SNX13 23161 broad.mit.edu 37 7 17931249 17931249 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:17931249C>T ENST00000409389.1 - 4 410 c.238G>A c.(238-240)Gaa>Aaa p.E80K SNX13_ENST00000409604.1_Missense_Mutation_p.E80K|SNX13_ENST00000428135.3_Missense_Mutation_p.E80K Q9Y5W8 SNX13_HUMAN sorting nexin 13 80 cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity early endosome membrane phosphatidylinositol binding|signal transducer activity breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 38 Lung NSC(10;0.0261)|all_lung(11;0.0521) CGTTTCATTTCTTCTAAGCAC 0.368000 5 21 0 0 1 0 0 BNC2 54796 broad.mit.edu 37 9 16436824 16436824 + Silent SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:16436824G>C ENST00000380672.4 - 6 1425 c.1368C>G c.(1366-1368)ctC>ctG p.L456L BNC2_ENST00000545497.1_Silent_p.L361L|BNC2_ENST00000380666.2_Silent_p.L456L|BNC2_ENST00000380667.2_Silent_p.L389L NM_017637.5 NP_060107.3 Q6ZN30 BNC2_HUMAN basonuclin 2 456 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 60 GBM - Glioblastoma multiforme(50;9.01e-08) AATGAATTTTGAGAGTACCTT 0.448000 26 68 0 0 1 0 0 PAFAH1B1 5048 broad.mit.edu 37 17 2575996 2575996 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:2575996C>T ENST00000397195.5 + 7 1067 c.616C>T c.(616-618)Cat>Tat p.H206Y PAFAH1B1_ENST00000451360.2_Missense_Mutation_p.H35Y|PAFAH1B1_ENST00000572915.2_3'UTR NM_000430.3 NP_000421.1 P43034 LIS1_HUMAN platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa) 206 Interaction with dynein and dynactin. acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1) 11 CAATGGAGATCATATAGTGTC 0.408000 17 50 0 0 1 0 0 VIM 7431 broad.mit.edu 37 10 17271570 17271570 + Missense_Mutation SNP G G A rs11545553 TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:17271570G>A ENST00000544301.1 + 2 562 c.149G>A c.(148-150)cGc>cAc p.R50H VIM_ENST00000485947.1_3'UTR|VIM-AS1_ENST00000605833.1_RNA|VIM_ENST00000224237.5_Missense_Mutation_p.R50H NM_003380.3 NP_003371.2 P08670 VIME_HUMAN vimentin 50 Head. Missing (in Ref. 5; BAB71275). cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding cytosol|intermediate filament protein C-terminus binding|structural constituent of cytoskeleton NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 AGCACCAGCCGCAGCCTCTAC 0.756000 9 22 0 0 1 0 0 TM4SF4 7104 broad.mit.edu 37 3 149205479 149205479 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:149205479C>T ENST00000305354.4 + 3 1242 c.338C>T c.(337-339)tCa>tTa p.S113L NM_004617.3 NP_004608.1 P48230 T4S4_HUMAN transmembrane 4 L six family member 4 113 integral to membrane large_intestine(3)|lung(4)|ovary(1)|prostate(1) 9 LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048) TCAGCCATTTCAATCAACAAG 0.502000 19 62 0 0 1 0 0 DCP2 167227 broad.mit.edu 37 5 112321592 112321592 + Missense_Mutation SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:112321592G>T ENST00000389063.2 + 2 312 c.114G>T c.(112-114)caG>caT p.Q38H DCP2_ENST00000543319.1_Intron|DCP2_ENST00000515408.1_Missense_Mutation_p.Q38H NM_152624.5 NP_689837 Q8IU60 DCP2_HUMAN decapping mRNA 2 38 exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytoplasmic mRNA processing body|cytosol|nucleus|RNA-induced silencing complex exoribonuclease activity, producing 5'-phosphomonoesters|manganese ion binding|protein binding|RNA binding endometrium(3)|large_intestine(6)|lung(1) 10 all_cancers(142;4.41e-05)|all_epithelial(76;3.65e-07)|Colorectal(10;0.00115)|Prostate(80;0.00133)|Ovarian(225;0.0443) OV - Ovarian serous cystadenocarcinoma(64;6.98e-08)|Epithelial(69;7.87e-08)|all cancers(49;1.06e-05)|COAD - Colon adenocarcinoma(37;0.0123)|Colorectal(14;0.0171) TGTGTTTTCAGATTGAACTTG 0.373000 32 86 4.2108e-06 4.3255e-06 1 1 0 TPT1 7178 broad.mit.edu 37 13 45912831 45912831 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr13:45912831C>T ENST00000379056.1 - 4 548 c.378G>A c.(376-378)atG>atA p.M126I TPT1_ENST00000379060.4_Missense_Mutation_p.M148I|TPT1_ENST00000530705.1_Missense_Mutation_p.M160I|TPT1_ENST00000309246.5_Missense_Mutation_p.M160I|TPT1_ENST00000529421.1_5'UTR|TPT1_ENST00000379055.1_Missense_Mutation_p.M126I P13693 TCTP_HUMAN tumor protein, translationally-controlled 1 160 anti-apoptosis|response to virus extracellular space|multivesicular body calcium ion binding|protein binding lung(1) 1 Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;0.000232) TAAAGAAAATCATATATGGGG 0.338000 15 42 0 0 1 0 0 SMARCAD1 56916 broad.mit.edu 37 4 95185963 95185963 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr4:95185963G>A ENST00000354268.4 + 10 1460 c.1387G>A c.(1387-1389)Gaa>Aaa p.E463K SMARCAD1_ENST00000509418.1_Missense_Mutation_p.E33K|SMARCAD1_ENST00000457823.2_Missense_Mutation_p.E463K Q9H4L7 SMRCD_HUMAN SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 463 chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination nuclear matrix ATP binding|DNA binding|helicase activity breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 44 OV - Ovarian serous cystadenocarcinoma(123;4.33e-08) GAACAAATGTGAAGACATTTC 0.348000 16 48 0 0 1 0 0 PDE12 201626 broad.mit.edu 37 3 57545645 57545645 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:57545645G>A ENST00000311180.8 + 3 1847 c.1744G>A c.(1744-1746)Gaa>Aaa p.E582K PDE12_ENST00000487257.1_3'UTR NM_177966.5 NP_808881.3 Q6L8Q7 PDE12_HUMAN phosphodiesterase 12 582 hydrolase activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1) 20 KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127) ACCTAGTCATGAAGAAGTTAC 0.373000 37 110 0 0 1 0 0 FOXRED1 55572 broad.mit.edu 37 11 126142911 126142911 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:126142911G>A ENST00000263578.5 + 3 428 c.354G>A c.(352-354)caG>caA p.Q118Q FOXRED1_ENST00000534011.1_3'UTR|FOXRED1_ENST00000442061.2_5'UTR|FOXRED1_ENST00000532125.1_Silent_p.Q104Q NM_017547.3 NP_060017.1 Q96CU9 FXRD1_HUMAN FAD-dependent oxidoreductase domain containing 1 118 integral to membrane|mitochondrion oxidoreductase activity|protein binding breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1) 15 all_hematologic(175;0.145) Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729) TTTGTCAGCAGTTCTCATTGC 0.483000 25 76 0 0 1 0 0 AASS 10157 broad.mit.edu 37 7 121738811 121738811 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:121738811C>G ENST00000393376.1 - 13 1611 c.1516G>C c.(1516-1518)Gaa>Caa p.E506Q AASS_ENST00000417368.2_Missense_Mutation_p.E506Q|AASS_ENST00000473553.1_Intron Q9UDR5 AASS_HUMAN aminoadipate-semialdehyde synthase 506 Saccharopine dehydrogenase. protein tetramerization mitochondrial matrix binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 54 L-Glutamic Acid(DB00142)|NADH(DB00157) ACTGTTATTTCTATATTGCCA 0.333000 14 33 0 0 1 0 0 FSTL3 10272 broad.mit.edu 37 19 677931 677931 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:677931C>T ENST00000166139.4 + 2 275 c.243C>T c.(241-243)atC>atT p.I81I NM_005860.2 NP_005851.1 O95633 FSTL3_HUMAN follistatin-like 3 (secreted glycoprotein) 81 TB. hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of osteoclast differentiation|ossification|positive regulation of cell-cell adhesion|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent extracellular space|nucleus activin binding|fibronectin binding all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GGAACAAGATCAACCTCCTCG 0.622000 T CCND1 B-CLL 29 106 0 0 1 0 0 ZNF429 353088 broad.mit.edu 37 19 21720870 21720870 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:21720870G>A ENST00000358491.4 + 4 2223 c.2015G>A c.(2014-2016)cGt>cAt p.R672H ZNF429_ENST00000597078.1_Intron NM_001001415.2 NP_001001415.2 Q86V71 ZN429_HUMAN zinc finger protein 429 672 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2) 34 gatcgagaccgtcctggctaa 0.478000 4 50 0 0 1 0 0 RXFP3 51289 broad.mit.edu 37 5 33937997 33937997 + Silent SNP C C A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:33937997C>A ENST00000330120.3 + 1 1507 c.1152C>A c.(1150-1152)ctC>ctA p.L384L NM_016568.3 NP_057652.1 Q9NSD7 RL3R1_HUMAN relaxin/insulin-like family peptide receptor 3 384 integral to plasma membrane N-formyl peptide receptor activity endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3) 42 ACAGCTGCCTCAACCCCGTCC 0.617000 51 147 3.50607e-19 3.72328e-19 1 1 0 PTPN3 5774 broad.mit.edu 37 9 112153421 112153421 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:112153421C>T ENST00000412145.1 - 16 4263 c.1710G>A c.(1708-1710)gtG>gtA p.V570V PTPN3_ENST00000446349.1_Silent_p.V525V|PTPN3_ENST00000374541.2_Silent_p.V701V|PTPN3_ENST00000262539.3_Silent_p.V547V|PTPN3_ENST00000497739.1_5'UTR|PTPN3_ENST00000394827.3_Silent_p.V169V NM_001145369.1|NM_001145371.1 NP_001138841.1|NP_001138843.1 P26045 PTN3_HUMAN protein tyrosine phosphatase, non-receptor type 3 701 PDZ. negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle cytoplasm|cytoskeleton|internal side of plasma membrane ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 41 AACTTACGTTCACGTAACTTG 0.438000 7 19 0 0 1 0 0 ATG9A 79065 broad.mit.edu 37 2 220085587 220085587 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:220085587G>C ENST00000409618.1 - 15 2835 c.2396C>G c.(2395-2397)tCt>tGt p.S799C ATG9A_ENST00000396761.2_Missense_Mutation_p.S799C|ATG9A_ENST00000361242.4_Missense_Mutation_p.S799C|ATG9A_ENST00000409422.1_Missense_Mutation_p.S738C Q7Z3C6 ATG9A_HUMAN autophagy related 9A 799 autophagic vacuole assembly|protein transport autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1) 13 Renal(207;0.0474) Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) AGAGAAATGAGAGGGAACCCT 0.577000 19 64 0 0 1 0 0 COQ6 51004 broad.mit.edu 37 14 74428472 74428472 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:74428472G>C ENST00000334571.2 + 11 1283 c.1243G>C c.(1243-1245)Gaa>Caa p.E415Q COQ6_ENST00000394026.4_Missense_Mutation_p.E390Q|ENTPD5_ENST00000557325.1_Intron|COQ6_ENST00000554920.1_Intron|COQ6_ENST00000238709.4_Missense_Mutation_p.E340Q NM_182476.2 NP_872282.1 Q9Y2Z9 COQ6_HUMAN coenzyme Q6 monooxygenase 415 ubiquinone biosynthetic process mitochondrion flavin adenine dinucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1) 16 BRCA - Breast invasive adenocarcinoma(234;0.00337) TTATGAAACAGAAAGACAGCG 0.483000 56 160 0 0 1 0 0 TSSK3 81629 broad.mit.edu 37 1 32828367 32828367 + Nonsense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:32828367C>G ENST00000373534.3 + 1 570 c.65C>G c.(64-66)tCa>tGa p.S22* FAM229A_ENST00000415596.1_Intron NM_052841.3 NP_443073.1 Q96PN8 TSSK3_HUMAN testis-specific serine kinase 3 22 Protein kinase. cell differentiation|multicellular organismal development|spermatogenesis ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|large_intestine(6)|lung(5)|skin(2)|stomach(1) 15 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.17)|Breast(348;0.212) GGGACCTACTCAAAAGTCAAA 0.507000 52 162 0 0 1 0 0 SPIN3 169981 broad.mit.edu 37 X 57021092 57021092 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chrX:57021092C>G ENST00000374919.3 - 2 611 c.289G>C c.(289-291)Gaa>Caa p.E97Q NM_001010862.2 NP_001010862.2 Q5JUX0 SPIN3_HUMAN spindlin family, member 3 97 gamete generation central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1) 4 CTGTGAAGTTCCAATCCATAA 0.398000 50 57 0 0 1 0 0 FAM73A 374986 broad.mit.edu 37 1 78269066 78269066 + Nonsense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:78269066C>G ENST00000370791.3 + 4 517 c.485C>G c.(484-486)tCa>tGa p.S162* FAM73A_ENST00000443751.2_Nonsense_Mutation_p.S124* NM_001270384.1|NM_198549.3 NP_001257313.1|NP_940951.1 Q8NAN2 FA73A_HUMAN family with sequence similarity 73, member A 162 integral to membrane breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1) 19 Colorectal(170;0.226) AGTAAATATTCAGGTTCTGCA 0.308000 10 36 0 0 1 0 0 CLCNKB 1188 broad.mit.edu 37 1 16382217 16382217 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:16382217G>A ENST00000375679.4 + 18 2004 c.1893G>A c.(1891-1893)gtG>gtA p.V631V CLCNKB_ENST00000375667.3_Silent_p.V461V NM_000085.4 NP_000076.2 chloride channel, voltage-sensitive Kb breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1) 21 Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649) CAGAACCAGTGACCCTGAAGC 0.617000 19 100 0 0 1 0 0 NIF3L1 60491 broad.mit.edu 37 2 201760084 201760084 + Nonsense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:201760084C>T ENST00000409020.1 + 4 991 c.697C>T c.(697-699)Cag>Tag p.Q233* NIF3L1_ENST00000409357.1_Nonsense_Mutation_p.Q233*|NIF3L1_ENST00000359683.4_Nonsense_Mutation_p.Q206*|NIF3L1_ENST00000409588.1_Nonsense_Mutation_p.Q233*|NIF3L1_ENST00000416651.1_Nonsense_Mutation_p.Q233* Q9GZT8 NIF3L_HUMAN NIF3 NGG1 interacting factor 3-like 1 (S. cerevisiae) 233 positive regulation of transcription, DNA-dependent transcription factor binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(2) 13 ACAACTTTATCAGAAGACGGA 0.348000 17 57 0 0 1 0 0 NCKAP5 344148 broad.mit.edu 37 2 133539884 133539884 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:133539884C>T ENST00000409261.1 - 14 4873 c.4500G>A c.(4498-4500)caG>caA p.Q1500Q NCKAP5_ENST00000317721.6_Silent_p.Q1500Q|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron NM_207363.2 NP_997246.2 O14513 NCKP5_HUMAN NCK-associated protein 5 1500 protein binding NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 118 GCCCAGGCTTCTGCTTTGCTT 0.473000 25 64 0 0 1 0 0 GPR88 54112 broad.mit.edu 37 1 101004970 101004970 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:101004970C>G ENST00000315033.4 + 2 887 c.448C>G c.(448-450)Cag>Gag p.Q150E NM_022049.2 NP_071332.2 Q9GZN0 GPR88_HUMAN G protein-coupled receptor 88 150 integral to membrane|plasma membrane G-protein coupled receptor activity large_intestine(2)|skin(1) 3 all_epithelial(167;1.19e-05)|all_lung(203;0.00159)|Lung NSC(277;0.00171) Epithelial(280;0.0372)|all cancers(265;0.0558)|COAD - Colon adenocarcinoma(174;0.141)|Colorectal(144;0.156)|Lung(183;0.189) CGCCACCTACCAGGCGCTGTA 0.741000 3 17 0 0 1 0 0 FAM86JP 100125556 broad.mit.edu 37 3 125637732 125637732 + RNA SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:125637732C>G ENST00000485843.1 + 0 214 NR_024251.1 TTAACAGACTCATCAGATTCT 0.473000 5 32 0 0 1 0 0 UPF3A 65110 broad.mit.edu 37 13 115047559 115047559 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr13:115047559C>T ENST00000375299.3 + 2 327 c.271C>T c.(271-273)Ctg>Ttg p.L91L UPF3A_ENST00000351487.5_Silent_p.L91L NM_023011.3 NP_075387.1 Q9H1J1 REN3A_HUMAN UPF3 regulator of nonsense transcripts homolog A (yeast) 91 Required for interaction with UPF2. mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation cytoplasm|nucleus|plasma membrane nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding p.L91L(8) autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 16 Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238) BRCA - Breast invasive adenocarcinoma(86;0.0886) OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2) GCTGCGCCCGCTGCCAGCACA 0.731000 3 11 0 0 1 0 0 SVIL 6840 broad.mit.edu 37 10 29754631 29754631 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:29754631G>A ENST00000375398.2 - 36 6475 c.6026C>T c.(6025-6027)tCc>tTc p.S2009F SVIL_ENST00000355867.4_Missense_Mutation_p.S2009F|PTCHD3P1_ENST00000414457.1_RNA|PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000423223.1_RNA|PTCHD3P1_ENST00000413405.1_RNA|SVIL_ENST00000535393.1_Missense_Mutation_p.S923F|PTCHD3P1_ENST00000445521.1_RNA|PTCHD3P1_ENST00000455774.1_RNA|SVIL_ENST00000375400.3_Missense_Mutation_p.S1583F O95425 SVIL_HUMAN supervillin 2009 cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 112 Breast(68;0.103) ATCCCCAGAGGAGCTGCTGAG 0.512000 6 44 0 0 1 0 0 SBNO1 55206 broad.mit.edu 37 12 123821011 123821011 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:123821011C>T ENST00000420886.2 - 5 678 c.679G>A c.(679-681)Gaa>Aaa p.E227K SBNO1_ENST00000602398.1_Missense_Mutation_p.E227K|SBNO1_ENST00000267176.4_Missense_Mutation_p.E226K|SBNO1_ENST00000602750.1_Missense_Mutation_p.E226K NM_001167856.1 NP_001161328.1 A3KN83 SBNO1_HUMAN strawberry notch homolog 1 (Drosophila) 227 ATP binding|DNA binding|hydrolase activity NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2) 62 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197) tcctctggttcatcatcttct 0.413000 5 28 0 0 1 0 0 MORC1 27136 broad.mit.edu 37 3 108724086 108724086 + Nonsense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:108724086G>C ENST00000232603.5 - 19 1926 c.1844C>G c.(1843-1845)tCa>tGa p.S615* MORC1_ENST00000483760.1_Nonsense_Mutation_p.S594* NM_014429.3 NP_055244.3 Q86VD1 MORC1_HUMAN MORC family CW-type zinc finger 1 615 cell differentiation|multicellular organismal development|spermatogenesis nucleus ATP binding|zinc ion binding breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3) 105 ACGGCTCGCTGAAAGCTCAAA 0.358000 6 35 0 0 1 0 0 C4orf17 84103 broad.mit.edu 37 4 100434320 100434320 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr4:100434320C>G ENST00000514652.1 + 2 436 c.82C>G c.(82-84)Cta>Gta p.L28V C4orf17_ENST00000326581.4_Missense_Mutation_p.L28V Q53FE4 CD017_HUMAN chromosome 4 open reading frame 17 28 central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3) 18 OV - Ovarian serous cystadenocarcinoma(123;2.08e-08) AAGCTGCTTTCTAGTCAGGCA 0.458000 22 97 0 0 1 0 0 CLDN17 26285 broad.mit.edu 37 21 31538639 31538639 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr21:31538639G>C ENST00000286808.3 - 1 332 c.297C>G c.(295-297)atC>atG p.I99M NM_012131.2 NP_036263.1 P56750 CLD17_HUMAN claudin 17 99 calcium-independent cell-cell adhesion|tight junction assembly Golgi apparatus|integral to membrane|tight junction identical protein binding|structural molecule activity NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 23 TCATGCCACAGATGCCAATAA 0.567000 37 83 0 0 1 0 0 CR2 1380 broad.mit.edu 37 1 207651410 207651410 + Missense_Mutation SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:207651410G>T ENST00000367057.3 + 16 3272 c.3083G>T c.(3082-3084)aGa>aTa p.R1028I CR2_ENST00000367059.3_Missense_Mutation_p.R907I|CR2_ENST00000458541.2_Missense_Mutation_p.R942I|CR2_ENST00000367058.3_Missense_Mutation_p.R969I NM_001006658.2 NP_001006659.1 P20023 CR2_HUMAN complement component (3d/Epstein Barr virus) receptor 2 969 complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1) 69 GCGGTTTGCAGATCCCGTAAG 0.532000 5 31 0.000157383 0.000159737 1 1 0 SCAPER 49855 broad.mit.edu 37 15 76994204 76994204 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr15:76994204G>A ENST00000538941.2 - 20 2604 c.1665C>T c.(1663-1665)atC>atT p.I555I SCAPER_ENST00000563290.1_Silent_p.I801I|SCAPER_ENST00000324767.7_Silent_p.I801I NM_001145923.1 NP_001139395.1 Q9BY12 SCAPE_HUMAN S-phase cyclin A-associated protein in the ER 800 Glu-rich. endoplasmic reticulum|nucleus zinc ion binding NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2) 39 CCTCTGAAGAGATCTGAAAGC 0.378000 8 31 0 0 1 0 0 C11orf1 64776 broad.mit.edu 37 11 111754506 111754506 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:111754506G>A ENST00000260276.3 + 4 692 c.355G>A c.(355-357)Gag>Aag p.E119K C11orf1_ENST00000528125.1_Missense_Mutation_p.E73K|C11orf1_ENST00000530214.1_Silent_p.E96E|C11orf1_ENST00000529270.1_Missense_Mutation_p.E159K NM_022761.2 NP_073598.1 Q9H5F2 CK001_HUMAN chromosome 11 open reading frame 1 119 nucleus kidney(2)|lung(3) 5 all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|Medulloblastoma(222;0.0228)|all_neural(223;0.0281) all cancers(92;6.28e-09)|Epithelial(105;4.11e-08)|OV - Ovarian serous cystadenocarcinoma(223;1.52e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06) ATTTAAGCGAGAGCCTCACTG 0.393000 17 49 0 0 1 0 0 MAT2A 4144 broad.mit.edu 37 2 85770096 85770096 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:85770096G>A ENST00000306434.3 + 8 1147 c.1024G>A c.(1024-1026)Gag>Aag p.E342K MAT2A_ENST00000409017.1_Missense_Mutation_p.E279K NM_005911.5 NP_005902.1 P31153 METK2_HUMAN methionine adenosyltransferase II, alpha 342 methylation|xenobiotic metabolic process cytosol ATP binding|metal ion binding|methionine adenosyltransferase activity breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 9 L-Methionine(DB00134)|S-Adenosylmethionine(DB00118) TCAGAAGAGTGAGAGAGAGCT 0.403000 15 62 0 0 1 0 0 KLHL23 151230 broad.mit.edu 37 2 170606109 170606109 + Missense_Mutation SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:170606109G>T ENST00000392647.2 + 4 1788 c.1544G>T c.(1543-1545)gGa>gTa p.G515V KLHL23_ENST00000272797.4_Missense_Mutation_p.G515V|KLHL23_ENST00000602521.1_Missense_Mutation_p.G22V NM_144711.5 NP_653312.2 Q8NBE8 KLH23_HUMAN kelch-like family member 23 515 breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1) 16 GTCACTGGAGGATACTCCTAC 0.448000 23 76 7.87624e-14 8.2967e-14 1 1 0 VPS35 55737 broad.mit.edu 37 16 46694412 46694412 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr16:46694412C>T ENST00000299138.7 - 17 2421 c.2363G>A c.(2362-2364)gGg>gAg p.G788E NM_018206.4 NP_060676.2 Q96QK1 VPS35_HUMAN vacuolar protein sorting 35 homolog (S. cerevisiae) 788 protein transport|retrograde transport, endosome to Golgi cytosol|endosome|membrane protein binding breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1) 23 all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116) ATAAATTGGCCCCTCGGATTC 0.438000 20 84 0 0 1 0 0 MYCBPAP 84073 broad.mit.edu 37 17 48600299 48600299 + Splice_Site SNP G G A rs56367701 TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:48600299G>A ENST00000323776.5 + 11 1548 c.e11-1 MYCBPAP_ENST00000436259.2_Splice_Site NM_032133.4 NP_115509.4 Q8TBZ2 MYBPP_HUMAN MYCBP associated protein cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission cytoplasm|membrane protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2) 31 Breast(11;1.23e-18) BRCA - Breast invasive adenocarcinoma(22;1.23e-09) CCTCCTTCCAGAGGCAGGTTG 0.502000 23 72 0 0 1 0 0 ACTL6A 86 broad.mit.edu 37 3 179291249 179291249 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:179291249G>C ENST00000429709.2 + 4 583 c.370G>C c.(370-372)Gag>Cag p.E124Q ACTL6A_ENST00000392662.1_Missense_Mutation_p.E82Q|ACTL6A_ENST00000450518.2_Missense_Mutation_p.E82Q NM_004301.3 NP_004292.1 O96019 ACL6A_HUMAN actin-like 6A 124 chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex ATP binding|chromatin binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1) 21 all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191) OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169) TCTCATGTCAGAGGCACCGGT 0.338000 19 42 0 0 1 0 0 PEG10 23089 broad.mit.edu 37 7 94293511 94293511 + Nonsense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:94293511C>T ENST00000482108.1 + 2 1122 c.643C>T c.(643-645)Cag>Tag p.Q215* PEG10_ENST00000488574.1_Nonsense_Mutation_p.Q215* NM_001040152.1|NM_001172438.1|NM_001184962.1 NP_001035242.1|NP_001165909.1|NP_001171891.1 Q86TG7 PEG10_HUMAN paternally expressed 10 215 Necessary for interaction with ALK1. apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway cytoplasm|nucleus DNA binding|protein binding|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1) 21 all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215) STAD - Stomach adenocarcinoma(171;0.0031) CGACCACATTCAGGAGGAGCT 0.582000 38 131 0 0 1 0 0 IQCC 55721 broad.mit.edu 37 1 32671825 32671825 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:32671825G>A ENST00000537469.1 + 2 400 c.353G>A c.(352-354)cGa>cAa p.R118Q RP4-622L5.7_ENST00000421616.1_RNA|IQCC_ENST00000291358.6_Missense_Mutation_p.R38Q NM_001160042.1 NP_001153514.1 Q4KMZ1 IQCC_HUMAN IQ motif containing C 38 endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1) 15 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) GCGATTGTACGAGAGGTCGAG 0.612000 35 108 0 0 1 0 0 NDUFV1 4723 broad.mit.edu 37 11 67379873 67379873 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:67379873G>A ENST00000322776.6 + 10 1492 c.1339G>A c.(1339-1341)Gag>Aag p.E447K NDUFV1_ENST00000415352.2_Missense_Mutation_p.E440K|NDUFV1_ENST00000529927.1_Missense_Mutation_p.E438K|NDUFV1_ENST00000532303.1_Missense_Mutation_p.E346K NM_001166102.1|NM_007103.3 NP_001159574.1|NP_009034.2 P49821 NDUV1_HUMAN NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa 447 mitochondrial electron transport, NADH to ubiquinone|transport mitochondrial respiratory chain complex I 4 iron, 4 sulfur cluster binding|FMN binding|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2) 16 NADH(DB00157) GCCGGAGCTCGAGGAGCGGAT 0.632000 12 47 0 0 1 0 0 PRKAR2A 5576 broad.mit.edu 37 3 48884791 48884791 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:48884791G>A ENST00000265563.8 - 1 488 c.239C>T c.(238-240)tCg>tTg p.S80L PRKAR2A_ENST00000454963.1_Missense_Mutation_p.S80L|PRKAR2A_ENST00000296446.8_Missense_Mutation_p.S80L NM_004157.2 NP_004148.1 P13861 KAP2_HUMAN protein kinase, cAMP-dependent, regulatory, type II, alpha 80 Dimerization and phosphorylation. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport centrosome|cytosol|membrane fraction cAMP binding|cAMP-dependent protein kinase regulator activity SLC26A6/PRKAR2A(2) breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1) 6 BRCA - Breast invasive adenocarcinoma(193;0.000176)|Kidney(197;0.00246)|KIRC - Kidney renal clear cell carcinoma(197;0.00261) GTCCTCCTCCGACTCGCTGTC 0.716000 14 27 0 0 1 0 0 NARS2 79731 broad.mit.edu 37 11 78177018 78177018 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:78177018C>T ENST00000281038.5 - 11 1443 c.1068G>A c.(1066-1068)gtG>gtA p.V356V NARS2_ENST00000528850.1_Silent_p.V129V NM_001243251.1|NM_024678.5 NP_001230180.1|NP_078954.4 Q96I59 SYNM_HUMAN asparaginyl-tRNA synthetase 2, mitochondrial (putative) 356 asparaginyl-tRNA aminoacylation mitochondrial matrix asparagine-tRNA ligase activity|ATP binding|nucleic acid binding breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1) 27 all_cancers(14;2.63e-17)|all_epithelial(13;1.85e-19) L-Asparagine(DB00174) CACAGTGCTTCACCAGGTACT 0.418000 19 47 0 0 1 0 0 GP6 51206 broad.mit.edu 37 19 55543735 55543735 + Missense_Mutation SNP G G C rs28385643 TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:55543735G>C ENST00000310373.3 - 3 124 c.97C>G c.(97-99)Ctg>Gtg p.L33V GP6_ENST00000417454.1_Missense_Mutation_p.L33V|CTC-550B14.6_ENST00000585492.1_RNA|CTC-550B14.7_ENST00000593060.1_RNA|CTC-550B14.7_ENST00000586961.1_RNA|CTC-550B14.7_ENST00000586845.1_RNA|GP6_ENST00000333884.2_Missense_Mutation_p.L33V NM_001083899.1 NP_001077368 Q9HCN6 GPVI_HUMAN glycoprotein VI (platelet) 33 Ig-like C2-type 1. enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation integral to plasma membrane collagen binding|transmembrane receptor activity NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 19 BRCA - Breast invasive adenocarcinoma(297;0.156) GBM - Glioblastoma multiforme(193;0.0515) GAGCTGGGCAGAGCCTGGAGG 0.716000 13 22 0 0 1 0 0 LARP1 23367 broad.mit.edu 37 5 154181594 154181594 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:154181594C>G ENST00000336314.4 + 11 1537 c.1513C>G c.(1513-1515)Ctg>Gtg p.L505V NM_015315.3 NP_056130.2 Q6PKG0 LARP1_HUMAN La ribonucleoprotein domain family, member 1 582 protein binding|RNA binding breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 33 Renal(175;0.00488) Medulloblastoma(196;0.0354)|all_neural(177;0.147) KIRC - Kidney renal clear cell carcinoma(527;0.00112) ATTTTCCCACCTGACCTCTCT 0.498000 16 62 0 0 1 0 0 CCDC130 81576 broad.mit.edu 37 19 13869691 13869691 + Missense_Mutation SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:13869691G>T ENST00000586600.1 + 8 770 c.267G>T c.(265-267)atG>atT p.M89I CCDC130_ENST00000221554.8_Missense_Mutation_p.M89I P13994 CC130_HUMAN coiled-coil domain containing 130 89 response to virus protein binding endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1) 10 OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18) GGTTCCGGATGAAATGCCACC 0.632000 6 25 1.26484e-09 1.3217e-09 1 1 0 CA4 762 broad.mit.edu 37 17 58234821 58234821 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:58234821C>T ENST00000300900.4 + 4 401 c.302C>T c.(301-303)tCt>tTt p.S101F NM_000717.3 NP_000708.1 P22748 CAH4_HUMAN carbonic anhydrase IV 101 bicarbonate transport|one-carbon metabolic process anchored to external side of plasma membrane|apical plasma membrane|brush border membrane|ER-Golgi intermediate compartment|membrane fraction|perinuclear region of cytoplasm|rough endoplasmic reticulum|secretory granule membrane|trans-Golgi network|transport vesicle membrane carbonate dehydratase activity|protein binding|zinc ion binding kidney(1)|large_intestine(2)|lung(5)|ovary(1) 9 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;3.83e-12)|all cancers(12;6.83e-11) Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021) GCCAGCATTTCTGGAGGAGGA 0.587000 22 89 0 0 1 0 0 ELMO1 9844 broad.mit.edu 37 7 37298857 37298857 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:37298857G>A ENST00000310758.4 - 6 989 c.342C>T c.(340-342)gtC>gtT p.V114V ELMO1_ENST00000442504.1_Silent_p.V114V|ELMO1_ENST00000448602.1_Silent_p.V114V NM_001206480.1|NM_014800.10 NP_001193409.1|NP_055615.8 Q92556 ELMO1_HUMAN engulfment and cell motility 1 114 actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|plasma membrane SH3 domain binding breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1) 58 GGGCAAACGTGACATCCCGGG 0.547000 11 40 0 0 1 0 0 COL11A2 1302 broad.mit.edu 37 6 33154506 33154506 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:33154506C>T ENST00000341947.2 - 5 923 c.696G>A c.(694-696)caG>caA p.Q232Q COL11A2_ENST00000374708.4_Silent_p.Q232Q|COL11A2_ENST00000395194.1_Silent_p.Q232Q|COL11A2_ENST00000357486.1_Silent_p.Q232Q|COL11A2_ENST00000374712.1_Silent_p.Q232Q|COL11A2_ENST00000374714.1_Silent_p.Q232Q|COL11A2_ENST00000374713.1_Silent_p.Q232Q|COL11A2_ENST00000361917.1_Silent_p.Q232Q|COL11A2_ENST00000395197.1_Silent_p.Q232Q NM_080680.2 NP_542411.2 P13942 COBA2_HUMAN collagen, type XI, alpha 2 232 Nonhelical region. cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development collagen type XI extracellular matrix structural constituent conferring tensile strength|protein binding, bridging biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6) 68 GTCTTTCCCTCTGGCCCCCCT 0.562000 36 122 0 0 1 0 0 DMWD 1762 broad.mit.edu 37 19 46294229 46294229 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:46294229G>C ENST00000270223.6 - 2 603 c.558C>G c.(556-558)ttC>ttG p.F186L DMWD_ENST00000377735.3_Missense_Mutation_p.F186L|DMWD_ENST00000601370.1_5'UTR NM_004943.1 NP_004934.1 Q09019 DMWD_HUMAN dystrophia myotonica, WD repeat containing 186 meiosis central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1) 16 Ovarian(192;0.0308)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236) GACCCGCTGAGAAGCCCACCA 0.562000 40 108 0 0 1 0 0 TRAPPC2L 51693 broad.mit.edu 37 16 88926377 88926377 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr16:88926377C>G ENST00000565504.1 + 4 395 c.371C>G c.(370-372)tCc>tGc p.S124C TRAPPC2L_ENST00000564365.1_Missense_Mutation_p.S43C|TRAPPC2L_ENST00000567895.1_Missense_Mutation_p.S94C|TRAPPC2L_ENST00000301021.3_Missense_Mutation_p.S124C|TRAPPC2L_ENST00000567312.1_Missense_Mutation_p.S94C|TRAPPC2L_ENST00000568583.1_Missense_Mutation_p.S124C|TRAPPC2L_ENST00000561840.1_Missense_Mutation_p.S114C Q9UL33 TPC2L_HUMAN trafficking protein particle complex 2-like 124 ER to Golgi vesicle-mediated transport endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm lung(4)|pancreas(1)|skin(1) 6 BRCA - Breast invasive adenocarcinoma(80;0.0477) CGCATCCAGTCCAGGTGGGCC 0.502000 36 79 0 0 1 0 0 SLC4A3 6508 broad.mit.edu 37 2 220502408 220502408 + Missense_Mutation SNP G G A rs140581019 byFrequency TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:220502408G>A ENST00000358055.3 + 17 3153 c.2641G>A c.(2641-2643)Gag>Aag p.E881K SLC4A3_ENST00000373762.3_Missense_Mutation_p.E908K|SLC4A3_ENST00000273063.6_Missense_Mutation_p.E908K|SLC4A3_ENST00000373760.2_Missense_Mutation_p.E881K|SLC4A3_ENST00000317151.3_Missense_Mutation_p.E881K P48751 B3A3_HUMAN solute carrier family 4 (anion exchanger), member 3 881 Membrane (anion exchange). bicarbonate transport integral to plasma membrane|membrane fraction inorganic anion exchanger activity breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2) 51 Renal(207;0.0183) Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GCCCCCCACCGAGGGCCCCCC 0.647000 23 77 0 0 1 0 0 LOC101927060 101927060 broad.mit.edu 37 17 45128792 45128792 + RNA SNP G G T rs143713325 by1000genomes TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:45128792G>T ENST00000575173.1 - 0 418 AATTCAGGTTGTCAGAATGCA 0.373000 4 48 2.56e-06 2.63452e-06 1 1 0 NOTCH4 4855 broad.mit.edu 37 6 32170230 32170230 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:32170230C>T ENST00000375023.3 - 21 3516 c.3378G>A c.(3376-3378)ctG>ctA p.L1126L NM_004557.3 NP_004548.3 Q99466 NOTC4_HUMAN notch 4 1126 EGF-like 28. cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|protein heterodimerization activity|receptor activity NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 CTGGTGGGGTCAGGCAGTCAG 0.642000 5 32 0 0 1 0 0 MLH3 27030 broad.mit.edu 37 14 75514904 75514904 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:75514904C>T ENST00000355774.2 - 2 1670 c.1455G>A c.(1453-1455)gaG>gaA p.E485E MLH3_ENST00000238662.7_Silent_p.E485E|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000556740.1_Silent_p.E485E|MLH3_ENST00000556257.1_Silent_p.E485E NM_001040108.1 NP_001035197.1 Q9UHC1 MLH3_HUMAN mutL homolog 3 485 mismatch repair|reciprocal meiotic recombination chiasma|MutLbeta complex|synaptonemal complex ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 44 BRCA - Breast invasive adenocarcinoma(234;0.00688) TTTTATGTTTCTCATTTTCTC 0.363000 Mismatch excision repair (MMR) 28 78 0 0 1 0 0 HORMAD1 84072 broad.mit.edu 37 1 150679155 150679155 + Silent SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:150679155C>G ENST00000368993.2 - 10 783 c.678G>C c.(676-678)gtG>gtC p.V226V HORMAD1_ENST00000322343.7_Silent_p.V219V|HORMAD1_ENST00000361824.2_Silent_p.V226V|HORMAD1_ENST00000368995.4_Silent_p.V146V Q86X24 HORM1_HUMAN HORMA domain containing 1 226 HORMA. blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly chromosome|nucleus breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3) 16 all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171) TCTCAGTGGTCACTTTTACTT 0.348000 19 82 0 0 1 0 0 CCR2 729230 broad.mit.edu 37 3 46399402 46399402 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:46399402C>T ENST00000292301.4 + 2 869 c.384C>T c.(382-384)atC>atT p.I128I CCR2_ENST00000465202.1_Intron|CCR2_ENST00000445132.2_Silent_p.I128I|CCR2_ENST00000400888.2_Silent_p.I128I NM_001123041.2 NP_001116513.2 P41597 CCR2_HUMAN chemokine (C-C motif) receptor 2 128 astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7) 14 BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206) TTGGCGGAATCTTCTTCATCA 0.468000 76 274 0 0 1 0 0 ABCB8 11194 broad.mit.edu 37 7 150738289 150738289 + Silent SNP C C A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:150738289C>A ENST00000358849.4 + 13 1680 c.1587C>A c.(1585-1587)ctC>ctA p.L529L ABCB8_ENST00000498578.1_Silent_p.L529L|ABCB8_ENST00000542328.1_Silent_p.L441L|ABCB8_ENST00000356058.4_3'UTR|ABCB8_ENST00000297504.6_Silent_p.L546L NM_001282291.1|NM_001282293.1|NM_007188.3 NP_001269220.1|NP_001269222.1|NP_009119.2 Q9NUT2 ABCB8_HUMAN ATP-binding cassette, sub-family B (MDR/TAP), member 8 546 ABC transporter. ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 26 OV - Ovarian serous cystadenocarcinoma(82;0.0121) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CCTCCTGGCTCCGGGGCCAGG 0.697000 13 71 4.3838e-07 4.53616e-07 1 1 0 KIAA0196 9897 broad.mit.edu 37 8 126036882 126036882 + Missense_Mutation SNP C C T rs35499702 TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:126036882C>T ENST00000318410.7 - 29 3806 c.3457G>A c.(3457-3459)Gat>Aat p.D1153N KIAA0196_ENST00000517845.1_Missense_Mutation_p.D1005N NM_014846.3 NP_055661.3 Q12768 STRUM_HUMAN KIAA0196 1153 cell death WASH complex NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2) 42 Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205) CTGAACTCATCAAAAATGAAA 0.318000 10 39 0 0 1 0 0 MAPKAPK2 9261 broad.mit.edu 37 1 206904055 206904055 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:206904055G>A ENST00000367103.3 + 6 907 c.714G>A c.(712-714)gaG>gaA p.E238E MAPKAPK2_ENST00000294981.4_Silent_p.E238E NM_004759.4|NM_032960.3 NP_004750.1|NP_116584.2 P49137 MAPK2_HUMAN mitogen-activated protein kinase-activated protein kinase 2 238 Protein kinase. activation of MAPK activity|hormone biosynthetic process|innate immune response|leukotriene biosynthetic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|prostanoid metabolic process|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 19 Breast(84;0.183) BRCA - Breast invasive adenocarcinoma(75;0.211) TGGGTCCAGAGAAGTATGACA 0.572000 30 80 0 0 1 0 0 CPS1 1373 broad.mit.edu 37 2 211476905 211476905 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:211476905C>G ENST00000233072.5 + 20 2652 c.2456C>G c.(2455-2457)tCt>tGt p.S819C CPS1_ENST00000430249.2_Missense_Mutation_p.S825C|CPS1_ENST00000451903.2_Missense_Mutation_p.S368C NM_001875.4 NP_001866.2 P31327 CPSM_HUMAN carbamoyl-phosphate synthase 1, mitochondrial 819 carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle mitochondrial nucleoid ATP binding|carbamoyl-phosphate synthase (ammonia) activity breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 142 Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843) TGCCACCCATCTATAGAAGGT 0.413000 34 89 0 0 1 0 0 ARSK 153642 broad.mit.edu 37 5 94936565 94936565 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:94936565C>T ENST00000380009.4 + 7 1316 c.1111C>T c.(1111-1113)Cct>Tct p.P371S NM_198150.2 NP_937793.1 Q6UWY0 ARSK_HUMAN arylsulfatase family, member K 371 extracellular region arylsulfatase activity|metal ion binding endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1) 16 all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473) all cancers(79;6.5e-16) TGCTGGAATTCCTCTGCCTCA 0.333000 20 69 0 0 1 0 0 CYP2A13 1553 broad.mit.edu 37 19 41596470 41596470 + Splice_Site SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:41596470G>T ENST00000330436.3 + 4 654 c.e4+1 NM_000766.4 NP_000757.2 Q16696 CP2AD_HUMAN cytochrome P450, family 2, subfamily A, polypeptide 13 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2) 42 Clomipramine(DB01242)|Nicotine(DB00184) CACGGGGCAGGTAACTGGCTG 0.597000 15 103 2.23348e-06 2.29989e-06 1 1 0 SUSD4 55061 broad.mit.edu 37 1 223536710 223536710 + Nonsense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:223536710G>A ENST00000343846.3 - 1 691 c.58C>T c.(58-60)Cag>Tag p.Q20* SUSD4_ENST00000484758.2_Nonsense_Mutation_p.Q20*|SUSD4_ENST00000366877.3_Nonsense_Mutation_p.Q20*|SUSD4_ENST00000454695.2_5'UTR|SUSD4_ENST00000344029.6_Nonsense_Mutation_p.Q20*|SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000494793.2_Nonsense_Mutation_p.Q20*|SUSD4_ENST00000366878.4_Nonsense_Mutation_p.Q20* Q5VX71 SUSD4_HUMAN sushi domain containing 4 20 integral to membrane cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1) 17 GBM - Glioblastoma multiforme(131;0.0611) GGTtgctgctgctgctgctgc 0.572000 4 17 0 0 1 0 0 IGSF3 3321 broad.mit.edu 37 1 117142914 117142914 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:117142914C>T ENST00000369486.3 - 7 2443 c.1678G>A c.(1678-1680)Gac>Aac p.D560N IGSF3_ENST00000369483.1_Missense_Mutation_p.D580N|IGSF3_ENST00000318837.6_Missense_Mutation_p.D580N NM_001007237.1 NP_001007238.1 O75054 IGSF3_HUMAN immunoglobulin superfamily, member 3 560 Ig-like C2-type 5. integral to membrane NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2) 62 Lung SC(450;0.225) all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05) Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166) TCAAAGGAGTCGCTGTAGGTC 0.587000 16 38 0 0 1 0 0 RAG2 5897 broad.mit.edu 37 11 36614675 36614675 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:36614675C>G ENST00000311485.3 - 2 1205 c.1044G>C c.(1042-1044)ttG>ttC p.L348F NM_000536.3|NM_001243785.1|NM_001243786.1 NP_000527.2|NP_001230714.1|NP_001230715.1 P55895 RAG2_HUMAN recombination activating gene 2 348 chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination nucleus chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4) 32 all_lung(20;0.226) all_hematologic(20;0.00756) CAGCACATTTCAACATATAGA 0.383000 Familial Hemophagocytic Lymphohistiocytosis 32 93 0 0 1 0 0 FAT4 79633 broad.mit.edu 37 4 126370600 126370600 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr4:126370600C>G ENST00000394329.3 + 9 8442 c.8429C>G c.(8428-8430)tCt>tGt p.S2810C FAT4_ENST00000335110.5_Missense_Mutation_p.S1108C NM_024582.4 NP_078858.4 Q6V0I7 FAT4_HUMAN FAT atypical cadherin 4 2810 Cadherin 27. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6) 355 AGTAGATATTCTATAATGGAT 0.388000 18 63 0 0 1 0 0 INA 9118 broad.mit.edu 37 10 105037875 105037875 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:105037875G>A ENST00000369849.4 + 1 956 c.907G>A c.(907-909)Gag>Aag p.E303K NM_032727.3 NP_116116.1 Q16352 AINX_HUMAN internexin neuronal intermediate filament protein, alpha 303 Coil 2.|Rod. cell differentiation|nervous system development neurofilament structural constituent of cytoskeleton breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2) 13 Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198) GCGCAGCACCGAGGCCATCCG 0.657000 17 48 0 0 1 0 0 CLDN16 10686 broad.mit.edu 37 3 190105989 190105989 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:190105989G>A ENST00000264734.2 + 1 329 c.81G>A c.(79-81)gtG>gtA p.V27V CLDN16_ENST00000468220.1_Intron|CLDN16_ENST00000456423.1_Silent_p.V27V NM_006580.3 NP_006571.1 Q9Y5I7 CLD16_HUMAN claudin 16 27 calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion integral to membrane|tight junction identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1) 19 all_cancers(143;3.61e-10)|Ovarian(172;0.0991) Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05) GBM - Glioblastoma multiforme(93;0.018) AGCAGGGCGTGAGAAAAAGTA 0.502000 7 47 0 0 1 0 0 GTF3C1 2975 broad.mit.edu 37 16 27544708 27544708 + Splice_Site SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr16:27544708C>T ENST00000356183.4 - 5 768 c.753G>A c.(751-753)agG>agA p.R251R GTF3C1_ENST00000561623.1_Splice_Site_p.R251R NM_001520.3 NP_001511.2 Q12789 TF3C1_HUMAN general transcription factor IIIC, polypeptide 1, alpha 220kDa 251 transcription factor TFIIIC complex DNA binding|protein binding breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 80 ATTTGCTCCTCCTGCAAGAAA 0.448000 21 57 0 0 1 0 0 OTUD4 54726 broad.mit.edu 37 4 146077090 146077090 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr4:146077090C>T ENST00000454497.2 - 8 630 c.493G>A c.(493-495)Gag>Aag p.E165K OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000447906.2_Missense_Mutation_p.E230K NM_001102653.1 NP_001096123.1 Q01804 OTUD4_HUMAN OTU domain containing 4 230 protein binding breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 33 all_hematologic(180;0.151) AAAAATACCTCATTGCCTGAC 0.308000 7 33 0 0 1 0 0 CHD9 80205 broad.mit.edu 37 16 53352146 53352146 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr16:53352146G>A ENST00000566029.1 + 37 7768 c.7559G>A c.(7558-7560)aGa>aAa p.R2520K CHD9_ENST00000447540.1_Missense_Mutation_p.R2521K|CHD9_ENST00000564845.1_Missense_Mutation_p.R2520K|CHD9_ENST00000398510.3_Missense_Mutation_p.R2536K Q3L8U1 CHD9_HUMAN chromodomain helicase DNA binding protein 9 2536 cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleoplasm ATP binding|DNA binding|helicase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1) 78 all_cancers(37;0.0212) CATGAGGGAAGACCCAAACAA 0.338000 3 22 0 0 1 0 0 RBAK 57786 broad.mit.edu 37 7 5104113 5104113 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:5104113G>C ENST00000396912.1 + 5 1545 c.1026G>C c.(1024-1026)gaG>gaC p.E342D RBAK-RBAKDN_ENST00000407184.1_Intron|RBAK-RBAKDN_ENST00000396904.2_Intron|RBAK_ENST00000353796.3_Missense_Mutation_p.E342D NM_021163.3 NP_066986.1 Q9NYW8 RBAK_HUMAN RB-associated KRAB zinc finger 342 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1) 10 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14) ATTCAGGAGAGAAACCCTACG 0.443000 40 104 0 0 1 0 0 AHNAK2 113146 broad.mit.edu 37 14 105415178 105415178 + Nonsense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:105415178G>A ENST00000333244.5 - 7 6729 c.6610C>T c.(6610-6612)Cag>Tag p.Q2204* AHNAK2_ENST00000557457.1_Intron NM_138420.2 NP_612429.2 Q8IVF2 AHNK2_HUMAN AHNAK nucleoprotein 2 2204 nucleus cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3) 33 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116) GAAAGGGGCTGAATGCTGAGG 0.642000 81 149 0 0 1 0 0 GPR179 440435 broad.mit.edu 37 17 36486125 36486125 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:36486125C>T ENST00000342292.4 - 11 3347 c.3327G>A c.(3325-3327)gaG>gaA p.E1109E NM_001004334.2 NP_001004334.2 Q6PRD1 GP179_HUMAN G protein-coupled receptor 179 1109 integral to membrane|plasma membrane G-protein coupled receptor activity breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) CCTCGGGACTCTCCTCCACAC 0.652000 20 63 0 0 1 0 0 CRISPLD2 83716 broad.mit.edu 37 16 84883009 84883009 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr16:84883009C>T ENST00000262424.5 + 4 602 c.378C>T c.(376-378)ttC>ttT p.F126F CRISPLD2_ENST00000566431.1_3'UTR|CRISPLD2_ENST00000564567.1_Silent_p.F126F|CRISPLD2_ENST00000567845.1_Silent_p.F126F NM_031476.3 NP_113664.1 Q9H0B8 CRLD2_HUMAN cysteine-rich secretory protein LCCL domain containing 2 126 extracellular region|transport vesicle endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1) 18 CTCCGGGGTTCCATGTGCAGT 0.637000 13 59 0 0 1 0 0 SIN3A 25942 broad.mit.edu 37 15 75715054 75715054 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr15:75715054C>G ENST00000394947.3 - 3 614 c.300G>C c.(298-300)caG>caC p.Q100H SIN3A_ENST00000394949.4_Missense_Mutation_p.Q100H|SIN3A_ENST00000567289.1_Missense_Mutation_p.Q100H|SIN3A_ENST00000360439.4_Missense_Mutation_p.Q100H NM_001145358.1 NP_001138830.1 Q96ST3 SIN3A_HUMAN SIN3 transcription regulator family member A 100 blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleolus|Sin3 complex protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2) 63 GAGCATGACTCTGGACCACCT 0.562000 60 117 0 0 1 0 0 MORC3 23515 broad.mit.edu 37 21 37717293 37717293 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr21:37717293C>T ENST00000400485.1 + 8 1045 c.969C>T c.(967-969)ctC>ctT p.L323L MORC3_ENST00000487909.1_3'UTR NM_015358.2 NP_056173.1 Q14149 MORC3_HUMAN MORC family CW-type zinc finger 3 323 cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization aggresome|intermediate filament cytoskeleton|PML body ATP binding|zinc ion binding breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 35 GAAATAGACTCATCAAAGCTT 0.279000 9 26 0 0 1 0 0 KLHL1 57626 broad.mit.edu 37 13 70681477 70681477 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr13:70681477G>A ENST00000377844.4 - 1 1114 c.355C>T c.(355-357)Ctc>Ttc p.L119F ATXN8OS_ENST00000414504.2_RNA|KLHL1_ENST00000545028.1_5'UTR NM_020866.2 NP_065917.1 Q9NR64 KLHL1_HUMAN kelch-like family member 1 119 actin cytoskeleton organization cytoplasm|cytoskeleton actin binding breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 84 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) ACGTAGAAGAGAGTCCTGGCT 0.592000 29 75 0 0 1 0 0 VCPIP1 80124 broad.mit.edu 37 8 67576660 67576660 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:67576660C>T ENST00000310421.4 - 1 2792 c.2534G>A c.(2533-2535)aGa>aAa p.R845K NM_025054.4 NP_079330.2 Q96JH7 VCIP1_HUMAN valosin containing protein (p97)/p47 complex interacting protein 1 845 protein ubiquitination endoplasmic reticulum|Golgi stack ubiquitin-specific protease activity breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 45 Lung NSC(129;0.142)|all_lung(136;0.227) Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149) TATTGTAATTCTGTCGCCATG 0.428000 20 61 0 0 1 0 0 ARHGEF19 128272 broad.mit.edu 37 1 16534235 16534235 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:16534235C>T ENST00000270747.3 - 4 868 c.732G>A c.(730-732)atG>atA p.M244I NM_153213.3 NP_694945.2 Q8IW93 ARHGJ_HUMAN Rho guanine nucleotide exchange factor (GEF) 19 244 regulation of actin cytoskeleton organization intracellular GTPase activator activity|Rho guanyl-nucleotide exchange factor activity cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 12 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649) GGTCCCCGCTCATCTCTACAC 0.672000 21 77 0 0 1 0 0 WDR81 124997 broad.mit.edu 37 17 1640893 1640893 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:1640893G>A ENST00000409644.1 + 10 5740 c.5740G>A c.(5740-5742)Ggc>Agc p.G1914S WDR81_ENST00000446363.1_Missense_Mutation_p.G553S|WDR81_ENST00000309182.5_Missense_Mutation_p.G863S|WDR81_ENST00000545662.1_Missense_Mutation_p.G545S|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000419248.1_Missense_Mutation_p.G687S|WDR81_ENST00000437219.2_Missense_Mutation_p.G711S NM_001163809.1 NP_001157281.1 B3KXU1 B3KXU1_HUMAN WD repeat domain 81 687 cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1) 16 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) GAACTTCCGCGGCACGCTCAC 0.632000 23 64 0 0 1 0 0 ACAN 176 broad.mit.edu 37 15 89400090 89400090 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr15:89400090G>C ENST00000439576.2 + 12 4648 c.4274G>C c.(4273-4275)gGa>gCa p.G1425A ACAN_ENST00000561243.1_Missense_Mutation_p.G1425A|ACAN_ENST00000559004.1_Missense_Mutation_p.G1425A|ACAN_ENST00000352105.7_Missense_Mutation_p.G1425A NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 1425 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) ACTGCCCCTGGAGTAGATGAG 0.532000 73 202 0 0 1 0 0 MYH9 4627 broad.mit.edu 37 22 36718556 36718556 + Missense_Mutation SNP T T C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr22:36718556T>C ENST00000216181.5 - 6 853 c.623A>G c.(622-624)gAg>gGg p.E208G NM_002473.4 NP_002464.1 P35579 MYH9_HUMAN myosin, heavy chain 9, non-muscle 208 Myosin head-like. actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 CAGCTGCCGCTCCAGCTCGCC 0.687000 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 37 59 0 0 1 0 0 PAXBP1 94104 broad.mit.edu 37 21 34133456 34133456 + Missense_Mutation SNP C C G rs79555426 by1000genomes TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr21:34133456C>G ENST00000331923.4 - 5 1078 c.889G>C c.(889-891)Gat>Cat p.D297H PAXBP1_ENST00000290178.4_Missense_Mutation_p.D297H|PAXBP1_ENST00000472588.1_5'UTR NM_016631.3 NP_057715.2 PAX3 and PAX7 binding protein 1 AAAGCATCATCATCACTCCCC 0.423000 60 194 0 0 1 0 0 TACSTD2 4070 broad.mit.edu 37 1 59042364 59042364 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:59042364G>A ENST00000371225.2 - 1 802 c.465C>T c.(463-465)ctC>ctT p.L155L NM_002353.2 NP_002344.2 P09758 TACD2_HUMAN tumor-associated calcium signal transducer 2 155 cell proliferation|cell surface receptor linked signaling pathway|visual perception cytosol|integral to plasma membrane receptor activity all_cancers(7;6.54e-05) GCAGGTCAATGAGGATGTGGT 0.692000 7 22 0 0 1 0 0 ZRANB1 54764 broad.mit.edu 37 10 126631753 126631753 + Nonsense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:126631753C>T ENST00000359653.4 + 1 1062 c.691C>T c.(691-693)Cag>Tag p.Q231* NM_017580.2 NP_060050.2 Q9UGI0 ZRAN1_HUMAN zinc finger, RAN-binding domain containing 1 231 positive regulation of Wnt receptor signaling pathway|protein K63-linked deubiquitination|Wnt receptor signaling pathway aggresome|centrosome|intermediate filament cytoskeleton|nucleolus cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 23 all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172) Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119) AATGGATTTTCAGAGGATTGA 0.433000 22 54 0 0 1 0 0 CACNA1C 775 broad.mit.edu 37 12 2224703 2224703 + Silent SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:2224703C>G ENST00000399655.1 + 2 628 c.363C>G c.(361-363)gtC>gtG p.V121V CACNA1C_ENST00000327702.7_Silent_p.V121V|CACNA1C_ENST00000399595.1_Silent_p.V121V|CACNA1C_ENST00000399617.1_Silent_p.V121V|CACNA1C_ENST00000399629.1_Silent_p.V121V|CACNA1C_ENST00000399634.1_Silent_p.V121V|CACNA1C_ENST00000335762.5_Silent_p.V121V|CACNA1C_ENST00000399591.1_Silent_p.V121V|CACNA1C_ENST00000399638.1_Silent_p.V121V|CACNA1C_ENST00000399606.1_Silent_p.V121V|CACNA1C_ENST00000399641.1_Silent_p.V121V|CACNA1C_ENST00000406454.3_Silent_p.V121V|CACNA1C_ENST00000399597.1_Silent_p.V121V|CACNA1C_ENST00000399621.1_Silent_p.V121V|CACNA1C_ENST00000399649.1_Silent_p.V121V|CACNA1C_ENST00000399637.1_Silent_p.V121V|CACNA1C_ENST00000344100.3_Silent_p.V121V|CACNA1C_ENST00000399644.1_Silent_p.V121V|CACNA1C_ENST00000480911.1_Silent_p.V121V|CACNA1C_ENST00000399601.1_Silent_p.V121V|CACNA1C_ENST00000347598.4_Silent_p.V121V|CACNA1C_ENST00000402845.3_Silent_p.V121V|CACNA1C_ENST00000399603.1_Silent_p.V121V NM_000719.6|NM_001129829.1|NM_001129834.1 NP_000710.5|NP_001123301.1|NP_001123306.1 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, alpha 1C subunit 121 axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4) 132 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) TCAGCATTGTCGAATGGAAAT 0.647000 20 77 0 0 1 0 0 IWS1 55677 broad.mit.edu 37 2 128253659 128253659 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:128253659C>T ENST00000295321.4 - 7 1890 c.1631G>A c.(1630-1632)aGa>aAa p.R544K IWS1_ENST00000455721.2_3'UTR|AC010976.2_ENST00000599001.1_RNA NM_017969.2 NP_060439.2 Q96ST2 IWS1_HUMAN IWS1 homolog (S. cerevisiae) 544 transcription, DNA-dependent nucleus DNA binding cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 28 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0735) GCGGTTCCGTCTGCGCTTGCC 0.468000 78 249 0 0 1 0 0 CCDC67 159989 broad.mit.edu 37 11 93118581 93118581 + Silent SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:93118581C>G ENST00000298050.3 + 8 907 c.807C>G c.(805-807)ctC>ctG p.L269L CCDC67_ENST00000525646.1_Silent_p.L11L NM_181645.3 NP_857596.2 Q05D60 CCD67_HUMAN coiled-coil domain containing 67 269 endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824) AAGCAGGTCTCTCAGAGGTAA 0.313000 8 36 0 0 1 0 0 HP 3240 broad.mit.edu 37 16 72094738 72094738 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr16:72094738G>A ENST00000357763.4 + 8 1305 c.1278G>A c.(1276-1278)gtG>gtA p.V426V HP_ENST00000570083.1_Silent_p.V331V|HP_ENST00000565574.1_Silent_p.V331V|HP_ENST00000562526.1_3'UTR|HPR_ENST00000356967.5_Intron|HP_ENST00000398131.2_Silent_p.V331V|HP_ENST00000355906.5_Silent_p.V390V P00738 HPT_HUMAN haptoglobin 0 cellular iron ion homeostasis|defense response|negative regulation of hydrogen peroxide catabolic process|negative regulation of oxidoreductase activity|positive regulation of cell death|proteolysis|response to hydrogen peroxide extracellular region|haptoglobin-hemoglobin complex hemoglobin binding|serine-type endopeptidase activity central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1) 7 Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114) BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529) GTGTGTATGTGAAGGTGACTT 0.522000 37 131 0 0 1 0 0 PBRM1 55193 broad.mit.edu 37 3 52582190 52582190 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:52582190C>T ENST00000356770.4 - 28 4700 c.4698G>A c.(4696-4698)ctG>ctA p.L1566L SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000394830.3_Silent_p.L1546L|PBRM1_ENST00000296302.7_Silent_p.L1653L|PBRM1_ENST00000337303.4_Silent_p.L1546L|PBRM1_ENST00000409767.1_Silent_p.L1561L|PBRM1_ENST00000409057.1_Silent_p.L1598L|PBRM1_ENST00000409114.3_Silent_p.L1616L|PBRM1_ENST00000410007.1_Silent_p.L1573L Q86U86 PB1_HUMAN polybromo 1 1653 Pro-rich. chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear chromosome chromatin binding|DNA binding|protein binding breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1) 335 BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) CTTTGCTTTTCAGCCAGTGAG 0.507000 """Mis, N, F, S, D, O""" """clear cell renal carcinoma, breast""" 46 121 0 0 1 0 0 SORT1 6272 broad.mit.edu 37 1 109865577 109865577 + Silent SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:109865577G>C ENST00000256637.6 - 15 2059 c.2001C>G c.(1999-2001)ctC>ctG p.L667L SORT1_ENST00000538502.1_Silent_p.L530L NM_002959.5 NP_002950.3 Q99523 SORT_HUMAN sortilin 1 667 Interactions with LRPAP1 and NGFB. endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1) 26 all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184) CCAGGGAACAGAGGCAGATGG 0.488000 11 43 0 0 1 0 0 HSF5 124535 broad.mit.edu 37 17 56540327 56540327 + Missense_Mutation SNP G G C rs145817491 TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:56540327G>C ENST00000323777.3 - 4 1467 c.1358C>G c.(1357-1359)tCt>tGt p.S453C NM_001080439.1 NP_001073908.1 Q4G112 HSF5_HUMAN heat shock transcription factor family member 5 453 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.S453F(1) endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1) 16 Medulloblastoma(34;0.127)|all_neural(34;0.237) CTGTGGTAGAGAGCAGGCAAC 0.483000 29 96 0 0 1 0 0 FGF10 2255 broad.mit.edu 37 5 44388630 44388630 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:44388630G>C ENST00000264664.4 - 1 269 c.155C>G c.(154-156)tCt>tGt p.S52C NM_004465.1 NP_004456.1 O15520 FGF10_HUMAN fibroblast growth factor 10 52 Poly-Ser. actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation cell surface|extracellular space|nucleus|plasma membrane chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1) 13 Lung NSC(6;1.12e-06) GGAGGAAGAAGAGTTGGTGGC 0.547000 28 49 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179640629 179640629 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:179640629C>T ENST00000589042.1 - 28 6186 c.5962G>A c.(5962-5964)Gaa>Aaa p.E1988K TTN_ENST00000360870.5_Missense_Mutation_p.E1988K|TTN_ENST00000342992.6_Missense_Mutation_p.E1988K|TTN_ENST00000591111.1_Missense_Mutation_p.E1988K|TTN_ENST00000460472.2_Missense_Mutation_p.E1942K|TTN_ENST00000342175.6_Missense_Mutation_p.E1942K|TTN_ENST00000359218.5_Missense_Mutation_p.E1942K NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 1741 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) GGCACTTTTTCATGGGTAATT 0.443000 41 149 0 0 1 0 0 GALNT2 2590 broad.mit.edu 37 1 230314024 230314024 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:230314024G>C ENST00000366672.4 + 2 259 c.187G>C c.(187-189)Gag>Cag p.E63Q GALNT2_ENST00000543760.1_Missense_Mutation_p.E25Q|GALNT2_ENST00000541865.1_Intron NM_004481.3 NP_004472.1 Q10471 GALT2_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2) 63 immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2) 32 Breast(184;0.193)|Ovarian(103;0.249) all_cancers(173;0.156)|Prostate(94;0.179) CAATGGAGAAGAGAAAGCACA 0.493000 9 53 0 0 1 0 0 TNC 3371 broad.mit.edu 37 9 117838737 117838737 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:117838737G>A ENST00000350763.4 - 8 3203 c.2792C>T c.(2791-2793)tCt>tTt p.S931F TNC_ENST00000340094.3_Missense_Mutation_p.S931F|TNC_ENST00000535648.1_Missense_Mutation_p.S931F|TNC_ENST00000542877.1_Missense_Mutation_p.S931F|TNC_ENST00000423613.2_Missense_Mutation_p.S931F|TNC_ENST00000345230.3_Missense_Mutation_p.S931F|TNC_ENST00000537320.1_Missense_Mutation_p.S931F|TNC_ENST00000341037.4_Missense_Mutation_p.S931F|TNC_ENST00000346706.3_Missense_Mutation_p.S931F NM_002160.3 NP_002151.2 P24821 TENA_HUMAN tenascin C 931 Fibronectin type-III 4. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 120 GTCCCCTCCAGAGATGGGGGC 0.507000 64 168 0 0 1 0 0 PREP 5550 broad.mit.edu 37 6 105800901 105800901 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:105800901G>A ENST00000369110.3 - 7 961 c.769C>T c.(769-771)Cca>Tca p.P257S NM_002726.4 NP_002717.3 P48147 PPCE_HUMAN prolyl endopeptidase 257 proteolysis serine-type endopeptidase activity breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 29 all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202) Oxytocin(DB00107) CGGTTTACTGGATCACATCCT 0.378000 35 124 0 0 1 0 0 RPP40 10799 broad.mit.edu 37 6 5002362 5002362 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:5002362C>T ENST00000380051.2 - 2 285 c.241G>A c.(241-243)Gaa>Aaa p.E81K RPP40_ENST00000464646.1_Missense_Mutation_p.E21K|RPP40_ENST00000319533.5_Missense_Mutation_p.E81K NM_006638.2 NP_006629.2 O75818 RPP40_HUMAN ribonuclease P/MRP 40kDa subunit 81 tRNA processing nucleolar ribonuclease P complex protein binding|ribonuclease P activity NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1) 14 Ovarian(93;0.11) all_hematologic(90;0.0895) CTGATGAATTCAGGTGTAATT 0.403000 21 103 0 0 1 0 0 RPS6 6194 broad.mit.edu 37 9 19376564 19376564 + Silent SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:19376564C>G ENST00000380394.4 - 5 640 c.582G>C c.(580-582)ctG>ctC p.L194L RPS6_ENST00000498815.1_5'UTR|RPS6_ENST00000380384.1_Silent_p.L163L|RPS6_ENST00000315377.4_Silent_p.L163L NM_001010.2 NP_001001.2 P62753 RS6_HUMAN ribosomal protein S6 194 endocrine pancreas development|glucose homeostasis|insulin receptor signaling pathway|positive regulation of apoptosis|rRNA processing|TOR signaling cascade|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit|nucleolus protein binding endometrium(3)|lung(2)|ovary(1)|urinary_tract(1) 7 Colorectal(97;3.46e-05)|Myeloproliferative disorder(762;0.0255) Lung(42;0.161)|LUSC - Lung squamous cell carcinoma(42;0.234) GCTGCTTCTTCAGAGCAATAC 0.448000 26 105 0 0 1 0 0 HIST1H2AE 3012 broad.mit.edu 37 6 26217568 26217568 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:26217568G>C ENST00000303910.2 + 1 404 c.366G>C c.(364-366)gaG>gaC p.E122D NM_021052.2 NP_066390.1 P04908 H2A1B_HUMAN histone cluster 1, H2ae 122 nucleosome assembly nucleosome|nucleus DNA binding central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2) 10 all_hematologic(11;0.196) AGAAGACGGAGAGCCACCATA 0.542000 19 59 0 0 1 0 0 SIMC1 375484 broad.mit.edu 37 5 175772332 175772332 + Nonsense_Mutation SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:175772332G>T ENST00000443967.1 + 12 2910 c.2503G>T c.(2503-2505)Gag>Tag p.E835* SIMC1_ENST00000332772.4_Nonsense_Mutation_p.E296*|SIMC1_ENST00000341199.6_Nonsense_Mutation_p.E420*|SIMC1_ENST00000430704.2_Nonsense_Mutation_p.E420* SUMO-interacting motifs containing 1 GATGCTGGGGGAGCCTCTTGT 0.537000 26 56 5.45024e-15 5.75906e-15 1 1 0 ZNF646 9726 broad.mit.edu 37 16 31087769 31087769 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr16:31087769G>A ENST00000394979.2 + 1 547 c.124G>A c.(124-126)Gac>Aac p.D42N ZNF646_ENST00000300850.5_Missense_Mutation_p.D42N O15015 ZN646_HUMAN zinc finger protein 646 42 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3) 49 TGAGGAGGCTGACAGCATCCC 0.632000 48 117 0 0 1 0 0 TMEM123 114908 broad.mit.edu 37 11 102272716 102272716 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:102272716G>C ENST00000398136.2 - 3 799 c.379C>G c.(379-381)Cag>Gag p.Q127E TMEM123_ENST00000361236.3_Missense_Mutation_p.Q108E|TMEM123_ENST00000525577.1_5'UTR|TMEM123_ENST00000532161.1_Missense_Mutation_p.Q39E NM_052932.2 NP_443164.2 Q8N131 PORIM_HUMAN transmembrane protein 123 127 Thr-rich. oncosis external side of plasma membrane|integral to membrane receptor activity p.Q127E(1) breast(3)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1) 9 all_cancers(8;0.00027)|all_epithelial(12;0.0021)|Lung NSC(15;0.227) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033) Epithelial(9;0.0314)|Lung(13;0.109)|all cancers(10;0.12)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0149) GTTGATATCTGAGATGTGTTC 0.388000 39 100 0 0 1 0 0 DZIP3 9666 broad.mit.edu 37 3 108380728 108380728 + Missense_Mutation SNP C C T rs139764708 TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:108380728C>T ENST00000361582.3 + 20 2434 c.2204C>T c.(2203-2205)tCa>tTa p.S735L DZIP3_ENST00000463306.1_Missense_Mutation_p.S735L NM_014648.3 NP_055463.1 Q86Y13 DZIP3_HUMAN DAZ interacting zinc finger protein 3 735 protein polyubiquitination cytoplasm polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1) 45 CAATAGGGCTCAGCTGGCAAA 0.358000 10 21 0 0 1 0 0 SEMA6C 10500 broad.mit.edu 37 1 151108598 151108598 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:151108598G>A ENST00000341697.3 - 13 2839 c.1148C>T c.(1147-1149)tCc>tTc p.S383F Q9H3T2 SEM6C_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C 383 Sema. integral to membrane receptor activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 28 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) TCGGGAAGAGGAGAACAAGGC 0.592000 11 77 0 0 1 0 0 SLC24A2 25769 broad.mit.edu 37 9 19786586 19786586 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:19786586C>G ENST00000341998.2 - 1 340 c.279G>C c.(277-279)aaG>aaC p.K93N SLC24A2_ENST00000286344.3_Missense_Mutation_p.K93N NM_001193288.2|NM_020344.3 NP_001180217.1|NP_065077.1 Q9UI40 NCKX2_HUMAN solute carrier family 24 (sodium/potassium/calcium exchanger), member 2 93 visual perception integral to membrane|plasma membrane calcium, potassium:sodium antiporter activity|symporter activity endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 33 GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443) AATCCAGAATCTTGTCATTTA 0.473000 18 86 0 0 1 0 0 MIPOL1 145282 broad.mit.edu 37 14 37777576 37777576 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:37777576G>A ENST00000327441.7 + 10 1146 c.680G>A c.(679-681)aGa>aAa p.R227K MIPOL1_ENST00000556451.1_Missense_Mutation_p.R196K|MIPOL1_ENST00000536774.1_Missense_Mutation_p.R46K|MIPOL1_ENST00000537471.1_Missense_Mutation_p.R227K|MIPOL1_ENST00000396294.2_Missense_Mutation_p.R227K|MIPOL1_ENST00000545536.1_Missense_Mutation_p.R196K|MIPOL1_ENST00000539062.2_Missense_Mutation_p.R196K NM_001195296.1|NM_001195297.1|NM_138731.6 NP_001182225.1|NP_001182226.1|NP_620059.1 Q8TD10 MIPO1_HUMAN mirror-image polydactyly 1 227 breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 23 Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213) Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196) GBM - Glioblastoma multiforme(112;0.0358) TTACTGAACAGAATAAACAAT 0.308000 20 50 0 0 1 0 0 TRANK1 9881 broad.mit.edu 37 3 36897398 36897398 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:36897398C>G ENST00000301807.6 - 12 3930 c.2033G>C c.(2032-2034)aGa>aCa p.R678T TRANK1_ENST00000429976.2_Missense_Mutation_p.R1228T|TRANK1_ENST00000428977.2_Missense_Mutation_p.R678T O15050 TRNK1_HUMAN tetratricopeptide repeat and ankyrin repeat containing 1 1228 DNA repair ATP binding|ATP-dependent DNA helicase activity|DNA binding NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 73 TATGATGGTTCTTTTCAAGCT 0.468000 52 101 0 0 1 0 0 FBXW4 6468 broad.mit.edu 37 10 103372196 103372196 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:103372196G>A ENST00000331272.7 - 7 1493 c.875C>T c.(874-876)cCa>cTa p.P292L FBXW4_ENST00000470093.1_5'UTR NM_022039.3 NP_071322.1 P57775 FBXW4_HUMAN F-box and WD repeat domain containing 4 292 ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway ubiquitin ligase complex breast(3)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|stomach(1) 15 Colorectal(252;0.123) Epithelial(162;4.35e-08)|all cancers(201;1.92e-06) CCCAGCCCCTGGGGGAAAGTC 0.582000 33 127 0 0 1 0 0 LAMC3 10319 broad.mit.edu 37 9 133948211 133948211 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:133948211C>T ENST00000361069.4 + 19 3539 c.3406C>T c.(3406-3408)Ctc>Ttc p.L1136F LAMC3_ENST00000480883.1_Intron NM_006059.3 NP_006050.3 Q9Y6N6 LAMC3_HUMAN laminin, gamma 3 1136 Domain II and I. cell adhesion basement membrane|membrane structural molecule activity endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3) 69 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551) AGCTGCCATTCTCGCGTCTCT 0.627000 5 18 0 0 1 0 0 MEGF9 1955 broad.mit.edu 37 9 123476050 123476050 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:123476050G>C ENST00000373930.3 - 1 698 c.587C>G c.(586-588)tCt>tGt p.S196C MEGF9_ENST00000426959.1_Missense_Mutation_p.S188C NM_001080497.2 NP_001073966.2 Q9H1U4 MEGF9_HUMAN multiple EGF-like-domains 9 196 Pro-rich. integral to membrane calcium ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1) 16 AGGAGGCGAAGAGGGGGCCTC 0.682000 6 23 0 0 1 0 0 TRIM48 79097 broad.mit.edu 37 11 55032749 55032749 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:55032749C>T ENST00000417545.2 + 2 504 c.418C>T c.(418-420)Cac>Tac p.H140Y NM_024114.3 NP_077019.2 Q8IWZ4 TRI48_HUMAN tripartite motif containing 48 124 intracellular zinc ion binding endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 38 GCACCGGTATCACAGACACTG 0.507000 25 34 0 0 1 0 0 RPS6KA5 9252 broad.mit.edu 37 14 91372534 91372534 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:91372534G>A ENST00000261991.3 - 8 1089 c.916C>T c.(916-918)Cca>Tca p.P306S RPS6KA5_ENST00000418736.2_Missense_Mutation_p.P306S|RPS6KA5_ENST00000536315.2_Missense_Mutation_p.P227S NM_004755.2 NP_004746.2 O75582 KS6A5_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 5 306 Protein kinase 1. axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytoplasm|nucleoplasm ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2) 24 all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146) Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201) GCATCACGTGGACCACATCCC 0.408000 12 69 0 0 1 0 0 ADCY6 112 broad.mit.edu 37 12 49164698 49164698 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:49164698G>A ENST00000307885.4 - 19 3801 c.3107C>T c.(3106-3108)aCc>aTc p.T1036I ADCY6_ENST00000357869.3_Missense_Mutation_p.T983I|ADCY6_ENST00000550422.1_Missense_Mutation_p.T983I NM_015270.3 NP_056085.1 O43306 ADCY6_HUMAN adenylate cyclase 6 1036 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane ATP binding|metal ion binding breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1) 29 AGCCATGTAGGTGCTACCAAT 0.582000 30 74 0 0 1 0 0 PRKAR1A 5573 broad.mit.edu 37 17 66526076 66526076 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:66526076C>G ENST00000589228.1 + 10 1035 c.907C>G c.(907-909)Cta>Gta p.L303V PRKAR1A_ENST00000588188.2_Missense_Mutation_p.L303V|PRKAR1A_ENST00000358598.2_Missense_Mutation_p.L303V|PRKAR1A_ENST00000586397.1_Missense_Mutation_p.L303V|PRKAR1A_ENST00000392711.1_Missense_Mutation_p.L303V|PRKAR1A_ENST00000536854.2_Missense_Mutation_p.L303V NM_001276289.1|NM_001278433.1 NP_001263218.1|NP_001265362.1 P10644 KAP0_HUMAN protein kinase, cAMP-dependent, regulatory, type I, alpha 303 activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter|transmembrane transport|water transport cAMP-dependent protein kinase complex|cytosol cAMP binding|cAMP-dependent protein kinase regulator activity|protein binding adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1) 31 Breast(10;1.64e-13) AGCTGCTGTGCTACAACGTCG 0.393000 """T, Mis, N, F, S""" RET papillary thyroid """myxoma, endocrine, papillary thyroid""" Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of 34 103 0 0 1 0 0 PLOD3 8985 broad.mit.edu 37 7 100856159 100856159 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:100856159G>A ENST00000223127.3 - 8 1241 c.843C>T c.(841-843)ttC>ttT p.F281F NM_001084.4 NP_001075.1 O60568 PLOD3_HUMAN procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 281 protein modification process rough endoplasmic reticulum membrane iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1) 31 Lung NSC(181;0.168)|all_lung(186;0.215) Succinic acid(DB00139)|Vitamin C(DB00126) CCTGGTTGCAGAAGCCACAGC 0.647000 19 43 0 0 1 0 0 MAML3 55534 broad.mit.edu 37 4 140811578 140811578 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr4:140811578C>G ENST00000509479.2 - 2 1868 c.1012G>C c.(1012-1014)Gag>Cag p.E338Q MAML3_ENST00000327122.5_Missense_Mutation_p.E182Q NM_018717.4 NP_061187 Q96JK9 MAML3_HUMAN mastermind-like 3 (Drosophila) 338 Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nuclear speck transcription coactivator activity breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2) 25 all_hematologic(180;0.162) AATTCTGGCTCCTTCTTCTCT 0.512000 18 56 0 0 1 0 0 HTR3E 285242 broad.mit.edu 37 3 183823613 183823613 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:183823613C>G ENST00000415389.2 + 7 1247 c.781C>G c.(781-783)Ctg>Gtg p.L261V HTR3E_ENST00000335304.2_Missense_Mutation_p.L276V|HTR3E_ENST00000440596.2_Missense_Mutation_p.L287V|HTR3E_ENST00000436361.2_Missense_Mutation_p.L261V|HTR3E_ENST00000425359.2_Missense_Mutation_p.L246V NM_001256613.1|NM_198313.2 NP_001243542.1|NP_938055.1 A5X5Y0 5HT3E_HUMAN 5-hydroxytryptamine (serotonin) receptor 3E, ionotropic 261 integral to membrane|plasma membrane|postsynaptic membrane extracellular ligand-gated ion channel activity|receptor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 40 all_cancers(143;1.46e-10)|Ovarian(172;0.0303) Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22) CAGTGGCTTTCTGGTTGCCAT 0.547000 29 113 0 0 1 0 0 DSG1 1828 broad.mit.edu 37 18 28923523 28923523 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr18:28923523G>C ENST00000257192.4 + 12 2010 c.1798G>C c.(1798-1800)Gaa>Caa p.E600Q RP11-534N16.1_ENST00000578119.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA NM_001942.2 NP_001933.2 Q02413 DSG1_HUMAN desmoglein 1 600 calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 76 OV - Ovarian serous cystadenocarcinoma(10;0.00559) ATGGGCAGTAGAAGGACCACA 0.483000 23 75 0 0 1 0 0 ZNF461 92283 broad.mit.edu 37 19 37130859 37130859 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:37130859C>G ENST00000588268.1 - 6 615 c.388G>C c.(388-390)Gaa>Caa p.E130Q ZNF461_ENST00000360357.4_Missense_Mutation_p.E107Q|ZNF461_ENST00000540605.2_5'UTR NM_153257.2 NP_694989.2 Q8TAF7 ZN461_HUMAN zinc finger protein 461 130 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2) 29 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) CTTTTAAATTCTTCCATGTTA 0.403000 48 108 0 0 1 0 0 SDCCAG8 10806 broad.mit.edu 37 1 243433447 243433447 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:243433447G>A ENST00000366541.3 + 2 226 c.108G>A c.(106-108)ctG>ctA p.L36L SDCCAG8_ENST00000391846.1_Silent_p.L36L|SDCCAG8_ENST00000343783.6_Intron|SDCCAG8_ENST00000355875.4_Silent_p.L36L NM_006642.3 NP_006633.1 Q86SQ7 SDCG8_HUMAN serologically defined colon cancer antigen 8 36 establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation cell-cell junction|centriole|cytosol protein binding breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218) all_cancers(173;0.00395) all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392) COAD - Colon adenocarcinoma(196;0.145) CATGTGCCCTGAAAGAAGGCG 0.493000 8 35 0 0 1 0 0 BUB1 699 broad.mit.edu 37 2 111425410 111425410 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:111425410C>G ENST00000535254.1 - 6 591 c.524G>C c.(523-525)gGa>gCa p.G175A BUB1_ENST00000302759.6_Missense_Mutation_p.G195A|BUB1_ENST00000409311.1_Missense_Mutation_p.G195A NM_001278616.1 NP_001265545.1 O43683 BUB1_HUMAN BUB1 mitotic checkpoint serine/threonine kinase 195 BUB1 N-terminal. apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion condensed chromosome kinetochore|cytosol ATP binding|protein binding|protein serine/threonine kinase activity breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1) 45 Ovarian(717;0.0822) BRCA - Breast invasive adenocarcinoma(221;0.0556) AGATATCACTCCAGAAAGCTC 0.323000 14 72 0 0 1 0 0 SLC26A5 375611 broad.mit.edu 37 7 103017300 103017300 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:103017300C>G ENST00000306312.3 - 19 2257 c.1996G>C c.(1996-1998)Gaa>Caa p.E666Q SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000393727.1_Missense_Mutation_p.E668Q|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000354356.4_Missense_Mutation_p.E99Q|SLC26A5_ENST00000393723.1_Missense_Mutation_p.E636Q|SLC26A5_ENST00000393730.1_Missense_Mutation_p.E634Q|SLC26A5_ENST00000393729.1_Missense_Mutation_p.E629Q|SLC26A5_ENST00000432958.2_Missense_Mutation_p.E634Q|SLC26A5_ENST00000339444.6_Missense_Mutation_p.E666Q NM_198999.2 NP_945350.1 P58743 S26A5_HUMAN solute carrier family 26 (anion exchanger), member 5 666 STAS. regulation of cell shape|sensory perception of sound integral to membrane secondary active sulfate transmembrane transporter activity endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5) 43 TCTCCATATTCTTTTACAATC 0.328000 5 34 0 0 1 0 0 FGFR1 2260 broad.mit.edu 37 8 38282030 38282030 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:38282030C>G ENST00000447712.2 - 7 1874 c.933G>C c.(931-933)ttG>ttC p.L311F FGFR1_ENST00000326324.6_Missense_Mutation_p.L220F|FGFR1_ENST00000356207.5_Missense_Mutation_p.L222F|FGFR1_ENST00000397091.5_Missense_Mutation_p.L309F|FGFR1_ENST00000341462.5_Missense_Mutation_p.L312F|FGFR1_ENST00000397108.4_Missense_Mutation_p.L309F|FGFR1_ENST00000532791.1_Missense_Mutation_p.L311F|FGFR1_ENST00000335922.5_Missense_Mutation_p.L303F|FGFR1_ENST00000397113.2_Missense_Mutation_p.L309F|FGFR1_ENST00000425967.3_Missense_Mutation_p.L342F|RP11-350N15.4_ENST00000528407.1_RNA|FGFR1_ENST00000397103.1_Missense_Mutation_p.L220F NM_001174063.1|NM_015850.3|NM_023110.2 NP_001167534.1|NP_056934.2|NP_075598.2 P11362 FGFR1_HUMAN fibroblast growth factor receptor 1 311 Ig-like C2-type 3. axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development extracellular region|integral to plasma membrane|membrane fraction ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity FGFR1/ZNF703(2) breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2) 50 all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442) Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065) Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24) Palifermin(DB00039) TGATTACCTTCAAGATCTGGA 0.567000 1 T """BCR, FOP, ZNF198, CEP1""" """MPD, NHL""" """Pfeiffer syndrome, Kallman syndrome""" 34 73 0 0 1 0 0 CRTC1 23373 broad.mit.edu 37 19 18876304 18876304 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:18876304C>T ENST00000338797.6 + 10 1050 c.1025C>T c.(1024-1026)tCg>tTg p.S342L CRTC1_ENST00000594658.1_Missense_Mutation_p.S285L|CRTC1_ENST00000601916.1_Missense_Mutation_p.S251L|CRTC1_ENST00000321949.8_Missense_Mutation_p.S326L NM_001098482.1 NP_001091952.1 Q6UUV9 CRTC1_HUMAN CREB regulated transcription coactivator 1 326 Ser-rich. interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane cAMP response element binding protein binding|protein binding CRTC1/MAML2(516) NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1) 19 CAGCAGGCATCGCCCACCCTG 0.662000 37 115 0 0 1 0 0 SH3KBP1 30011 broad.mit.edu 37 X 19560286 19560286 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chrX:19560286G>A ENST00000397821.3 - 16 1939 c.1649C>T c.(1648-1650)cCg>cTg p.P550L SH3KBP1_ENST00000379716.1_Missense_Mutation_p.P312L|SH3KBP1_ENST00000541422.1_Missense_Mutation_p.P289L|SH3KBP1_ENST00000379698.4_Missense_Mutation_p.P513L NM_031892.2 NP_114098.1 Q96B97 SH3K1_HUMAN SH3-domain kinase binding protein 1 550 apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome SH3 domain binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4) 29 CGGCTTGGGCGGCAGGGATGC 0.632000 31 37 0 0 1 0 0 PCDHB15 56121 broad.mit.edu 37 5 140625700 140625700 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:140625700G>C ENST00000231173.3 + 1 554 c.554G>C c.(553-555)cGa>cCa p.R185P NM_018935.2 NP_061758.1 Q9Y5E8 PCDBF_HUMAN 185 Cadherin 2. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding p.R185Q(1) NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2) 61 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) ACTCGCACCCGAGGGGATGGC 0.517000 27 62 0 0 1 0 0 RUNX1T1 862 broad.mit.edu 37 8 92972658 92972658 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:92972658C>G ENST00000523629.1 - 12 2081 c.1627G>C c.(1627-1629)Gac>Cac p.D543H RUNX1T1_ENST00000422361.2_Missense_Mutation_p.D506H|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.D516H|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.D516H|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.D506H|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.D543H|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.D554H|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.D506H NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2 NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1 Q06455 MTG8_HUMAN runt-related transcription factor 1; translocated to, 1 (cyclin D-related) 543 generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2) 86 BRCA - Breast invasive adenocarcinoma(11;0.0141) TTCTCCCAGTCTTTGTGCTGG 0.567000 19 42 0 0 1 0 0 CD58 965 broad.mit.edu 37 1 117078795 117078795 + Silent SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:117078795G>C ENST00000457047.2 - 3 473 c.420C>G c.(418-420)gtC>gtG p.V140V CD58_ENST00000369487.3_Silent_p.V140V|CD58_ENST00000369489.5_Silent_p.V140V NM_001144822.1 NP_001138294.1 P19256 LFA3_HUMAN CD58 molecule 140 Ig-like C2-type. blood coagulation|cell-cell adhesion|leukocyte migration anchored to membrane|integral to plasma membrane protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(3)|urinary_tract(1) 9 Lung SC(450;0.225) all_cancers(81;0.000363)|all_lung(203;0.000118)|all_epithelial(167;0.000149)|Lung NSC(69;0.000577) Lung(183;0.0086)|LUSC - Lung squamous cell carcinoma(189;0.0528)|Colorectal(144;0.0775)|all cancers(265;0.109)|Epithelial(280;0.118)|COAD - Colon adenocarcinoma(174;0.121) TCATGCATTGGACTTCAATGC 0.358000 11 29 0 0 1 0 0 KIF20B 9585 broad.mit.edu 37 10 91528126 91528126 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:91528126C>T ENST00000416354.1 + 30 5231 c.5159C>T c.(5158-5160)tCt>tTt p.S1720F KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000260753.4_Missense_Mutation_p.S1650F|KIF20B_ENST00000371728.3_Missense_Mutation_p.S1690F Q96Q89 KI20B_HUMAN kinesin family member 20B 1690 Interaction with PIN1. cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis centrosome|microtubule|nucleolus|nucleoplasm|spindle ATP binding|ATPase activity|microtubule motor activity|WW domain binding endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1) 58 GATAGAAATTCTTCTGTCAAA 0.294000 15 30 0 0 1 0 0 APOA1BP 128240 broad.mit.edu 37 1 156562250 156562250 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:156562250C>G ENST00000368235.3 + 3 428 c.385C>G c.(385-387)Cga>Gga p.R129G APOA1BP_ENST00000368234.3_Missense_Mutation_p.R129G|APOA1BP_ENST00000368233.3_Missense_Mutation_p.R129G|APOA1BP_ENST00000467374.1_3'UTR NM_144772.2 NP_658985.2 Q8NCW5 AIBP_HUMAN apolipoprotein A-I binding protein 129 YjeF N-terminal. extracellular region protein binding central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1) 9 all_hematologic(923;0.088)|Hepatocellular(266;0.158) GGTCTGTGCTCGACACCTCAA 0.587000 30 126 0 0 1 0 0 ROBO4 54538 broad.mit.edu 37 11 124766975 124766975 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:124766975C>G ENST00000306534.3 - 2 738 c.253G>C c.(253-255)Gat>Cat p.D85H ROBO4_ENST00000533054.1_Intron|ROBO4_ENST00000526899.1_5'UTR NM_019055.5 NP_061928.4 Q8WZ75 ROBO4_HUMAN roundabout, axon guidance receptor, homolog 4 (Drosophila) 85 Ig-like C2-type 1. angiogenesis|cell differentiation integral to membrane receptor activity NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3) 76 all_hematologic(175;0.215) Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301) AGGGTCCCATCAGGCAGGAGG 0.657000 7 31 0 0 1 0 0 KALRN 8997 broad.mit.edu 37 3 123987853 123987853 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:123987853G>A ENST00000360013.3 + 5 841 c.714G>A c.(712-714)ctG>ctA p.L238L KALRN_ENST00000460856.1_Silent_p.L238L|KALRN_ENST00000240874.3_Silent_p.L238L NM_001024660.3 NP_001019831.2 O60229 KALRN_HUMAN kalirin, RhoGEF kinase 238 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport actin cytoskeleton|cytosol ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 83 AAAAGGTGCTGAAGGCCCCTG 0.627000 11 32 0 0 1 0 0 CCDC77 84318 broad.mit.edu 37 12 549890 549890 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:549890G>A ENST00000239830.4 + 11 1328 c.1149G>A c.(1147-1149)atG>atA p.M383I CCDC77_ENST00000422000.1_Missense_Mutation_p.M351I|CCDC77_ENST00000540180.1_Missense_Mutation_p.M351I|CCDC77_ENST00000412006.2_Missense_Mutation_p.M351I NM_032358.3 NP_115734.1 Q9BR77 CCD77_HUMAN coiled-coil domain containing 77 383 centrosome cervix(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1) 19 all_cancers(10;0.0149)|all_epithelial(11;0.035)|all_lung(10;0.111)|Ovarian(42;0.142)|Lung NSC(10;0.156) OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.033) AAGAGGGAATGAGGAGAGAGA 0.438000 12 45 0 0 1 0 0 PRDM2 7799 broad.mit.edu 37 1 14107484 14107484 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:14107484C>G ENST00000235372.7 + 8 4050 c.3194C>G c.(3193-3195)tCt>tGt p.S1065C PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.S864C|PRDM2_ENST00000311066.5_Missense_Mutation_p.S1065C|PRDM2_ENST00000413440.1_Missense_Mutation_p.S864C NM_012231.4 NP_036363.2 Q13029 PRDM2_HUMAN PR domain containing 2, with ZNF domain 1065 Poly-Ser. Golgi apparatus|nucleus DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2) 55 Ovarian(185;0.249) all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255) GBM - Glioblastoma multiforme(2;0.00182) UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145) tcttcgttttcttcttcatct 0.522000 21 48 0 0 1 0 0 ASAP1 50807 broad.mit.edu 37 8 131073251 131073251 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:131073251C>T ENST00000357668.1 - 27 2793 c.2766G>A c.(2764-2766)caG>caA p.Q922Q ASAP1_ENST00000518721.1_Silent_p.Q922Q Q9ULH1 ASAP1_HUMAN ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 922 Pro-rich. cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction cytoplasm|membrane ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 68 GTGATGATTTCTGAAAGATTT 0.512000 42 145 0 0 1 0 0 RBAK 57786 broad.mit.edu 37 7 5104735 5104735 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:5104735G>C ENST00000396912.1 + 5 2167 c.1648G>C c.(1648-1650)Gag>Cag p.E550Q RBAK-RBAKDN_ENST00000407184.1_Intron|RBAK-RBAKDN_ENST00000396904.2_Intron|RBAK_ENST00000353796.3_Missense_Mutation_p.E550Q NM_021163.3 NP_066986.1 Q9NYW8 RBAK_HUMAN RB-associated KRAB zinc finger 550 Interaction with AR. negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding p.E550K(1) NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1) 10 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14) GTTATTCAATGAGTTGTCATA 0.388000 15 44 0 0 1 0 0 ANXA9 8416 broad.mit.edu 37 1 150956496 150956496 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:150956496G>C ENST00000368947.4 + 5 694 c.218G>C c.(217-219)aGa>aCa p.R73T ANXA9_ENST00000474997.1_3'UTR NM_003568.2 NP_003559.2 O76027 ANXA9_HUMAN annexin A9 73 cell-cell adhesion cell surface|cytosol acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity endometrium(1)|large_intestine(1)|lung(4)|skin(2) 8 all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) AACCGGAGCAGAGAGCAAAGG 0.587000 4 27 0 0 1 0 0 ADARB1 104 broad.mit.edu 37 21 46596309 46596309 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr21:46596309G>A ENST00000539173.1 + 4 1128 c.693G>A c.(691-693)ccG>ccA p.P231P ADARB1_ENST00000348831.4_Silent_p.P231P|ADARB1_ENST00000437626.1_Intron|ADARB1_ENST00000360697.3_Silent_p.P231P|ADARB1_ENST00000389863.4_Silent_p.P231P NM_015833.3 NP_056648.1 P78563 RED1_HUMAN adenosine deaminase, RNA-specific, B1 231 DRBM 2. adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing nucleoplasm|nucleus double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1) 17 Colorectal(79;0.115) TCCCACCCCCGAGTGGGAAGA 0.597000 21 84 0 0 1 0 0 HRC 3270 broad.mit.edu 37 19 49656911 49656911 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:49656911G>A ENST00000252825.4 - 1 1770 c.1584C>T c.(1582-1584)ctC>ctT p.L528L HRC_ENST00000595625.1_Silent_p.L528L NM_002152.2 NP_002143.1 P23327 SRCH_HUMAN histidine rich calcium binding protein 528 muscle contraction sarcoplasmic reticulum lumen calcium ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2) 34 all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392) all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622) GGTTCAGGCTGAGGCCATGAC 0.577000 8 26 0 0 1 0 0 RB1CC1 9821 broad.mit.edu 37 8 53558413 53558413 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:53558413G>A ENST00000025008.5 - 16 4359 c.3836C>T c.(3835-3837)tCt>tTt p.S1279F RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000539297.1_Missense_Mutation_p.S1279F|RB1CC1_ENST00000435644.2_Missense_Mutation_p.S1279F NM_014781.4 NP_055596.3 Q8TDY2 RBCC1_HUMAN RB1-inducible coiled-coil 1 1279 autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex protein binding NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2) 60 all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023) TCCTCTGGTAGAGTCAATGGC 0.308000 16 39 0 0 1 0 0 GSX1 219409 broad.mit.edu 37 13 28367224 28367224 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr13:28367224C>T ENST00000302945.2 + 1 445 c.397C>T c.(397-399)Cac>Tac p.H133Y NM_145657.1 NP_663632.1 Q9H4S2 GSX1_HUMAN GS homeobox 1 133 positive regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(1)|lung(1)|ovary(1) 4 Lung SC(185;0.0161) Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105) GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197) CAGGCAGTTCCACTGCATCTC 0.697000 6 23 0 0 1 0 0 DLG2 1740 broad.mit.edu 37 11 83195218 83195218 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:83195218G>C ENST00000398309.2 - 17 2402 c.1932C>G c.(1930-1932)ttC>ttG p.F644L DLG2_ENST00000404783.3_Intron|DLG2_ENST00000280241.8_Missense_Mutation_p.F683L|DLG2_ENST00000532653.1_Intron|DLG2_ENST00000524982.1_Intron|DLG2_ENST00000543673.1_Missense_Mutation_p.F749L|DLG2_ENST00000376106.3_Intron|DLG2_ENST00000330014.6_Intron|DLG2_ENST00000418306.2_Intron|DLG2_ENST00000537455.1_Intron|DLG2_ENST00000398304.1_Intron|DLG2_ENST00000531015.1_Missense_Mutation_p.F611L|DLG2_ENST00000376104.2_Missense_Mutation_p.F749L|DLG2_ENST00000426717.2_Intron NM_001364.3 NP_001355.2 Q15700 DLG2_HUMAN discs, large homolog 2 (Drosophila) 644 cell junction|postsynaptic density|postsynaptic membrane guanylate kinase activity|protein binding breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 71 all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036) TGTTCTTGTAGAATGGGAATT 0.393000 20 85 0 0 1 0 0 GORASP2 26003 broad.mit.edu 37 2 171806117 171806117 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:171806117C>G ENST00000234160.4 + 3 1028 c.213C>G c.(211-213)atC>atG p.I71M GORASP2_ENST00000452526.2_Missense_Mutation_p.I83M|GORASP2_ENST00000493692.1_3'UTR NM_001201428.1|NM_015530.4 NP_001188357.1|NP_056345.3 Q9H8Y8 GORS2_HUMAN golgi reassembly stacking protein 2, 55kDa 71 PDZ. Golgi membrane breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1) 14 AGATGCTTATCTATAGCAGCA 0.438000 31 93 0 0 1 0 0 KIF27 55582 broad.mit.edu 37 9 86474218 86474218 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:86474218C>G ENST00000297814.2 - 14 3146 c.3003G>C c.(3001-3003)aaG>aaC p.K1001N RP11-575L7.4_ENST00000586206.1_RNA|RP11-575L7.4_ENST00000591217.1_RNA|RP11-575L7.4_ENST00000421734.3_RNA|RP11-575L7.4_ENST00000590368.1_RNA|RP11-575L7.4_ENST00000586211.1_RNA|RP11-575L7.4_ENST00000589817.1_RNA|RP11-575L7.4_ENST00000590417.1_RNA|RP11-575L7.4_ENST00000589233.1_RNA|KIF27_ENST00000413982.1_Missense_Mutation_p.K935N|RP11-575L7.4_ENST00000592283.1_RNA|KIF27_ENST00000334204.2_Missense_Mutation_p.K904N NM_017576.1 NP_060046.1 Q86VH2 KIF27_HUMAN kinesin family member 27 1001 cilium assembly|microtubule-based movement cilium|cytoplasm|microtubule ATP binding|microtubule motor activity breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 43 GCTGCACATTCTTTTCAGACA 0.423000 19 79 0 0 1 0 0 RAD23B 5887 broad.mit.edu 37 9 110086268 110086268 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:110086268G>C ENST00000358015.3 + 8 1266 c.915G>C c.(913-915)caG>caC p.Q305H RAD23B_ENST00000416373.2_Missense_Mutation_p.Q233H NM_001244713.1|NM_002874.4 NP_001231642.1|NP_002865.1 P54727 RD23B_HUMAN RAD23 homolog B (S. cerevisiae) 305 STI1. nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process cytoplasm|nucleoplasm|proteasome complex|XPC complex damaged DNA binding|polyubiquitin binding|single-stranded DNA binding breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 TACTACAGCAGATAGGTCGAG 0.408000 Direct reversal of damage;Nucleotide excision repair (NER) 15 46 0 0 1 0 0 ATP10D 57205 broad.mit.edu 37 4 47525165 47525165 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr4:47525165G>A ENST00000273859.3 + 4 891 c.622G>A c.(622-624)Gag>Aag p.E208K ATP10D_ENST00000504445.1_Missense_Mutation_p.E208K NM_020453.3 NP_065186.3 Q9P241 AT10D_HUMAN ATPase, class V, type 10D 208 ATP biosynthetic process|cation transport integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1) 66 CTGTCACATTGAGACTTCTGG 0.458000 13 50 0 0 1 0 0 ARPC2 10109 broad.mit.edu 37 2 219114098 219114098 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:219114098C>T ENST00000295685.10 + 8 949 c.688C>T c.(688-690)Cgt>Tgt p.R230C ARPC2_ENST00000315717.5_Missense_Mutation_p.R230C|ARPC2_ENST00000477992.1_3'UTR NM_005731.2 NP_005722.1 O15144 ARPC2_HUMAN actin related protein 2/3 complex, subunit 2, 34kDa 230 cellular component movement Arp2/3 protein complex|cell projection|Golgi apparatus actin binding|structural constituent of cytoskeleton cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1) 6 Renal(207;0.0474) Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103) GCTGTTCCCTCGTCACACCAA 0.542000 11 31 0 0 1 0 0 RPS13 6207 broad.mit.edu 37 11 17099182 17099182 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:17099182G>A ENST00000525634.1 - 1 152 c.7C>T c.(7-9)Cgc>Tgc p.R3C RPS13_ENST00000228140.2_Missense_Mutation_p.R3C|RPS13_ENST00000526895.1_5'UTR P62277 RS13_HUMAN ribosomal protein S13 3 endocrine pancreas development|negative regulation of RNA splicing|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit|nucleolus mRNA binding|protein binding|structural constituent of ribosome haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2) 5 GCATGCATGCGACCCATGATG 0.652000 14 50 0 0 1 0 0 PCDHA1 56147 broad.mit.edu 37 5 140166574 140166574 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:140166574C>T ENST00000504120.2 + 1 699 c.699C>T c.(697-699)ctC>ctT p.L233L PCDHA1_ENST00000378133.3_Silent_p.L233L|PCDHA1_ENST00000394633.3_Silent_p.L233L NM_018900.2 NP_061723.1 breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3) 70 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCACCGTCCTCGACGTTAATG 0.473000 27 89 0 0 1 0 0 PGD 5226 broad.mit.edu 37 1 10479590 10479590 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:10479590C>T ENST00000538557.1 + 12 1531 c.1287C>T c.(1285-1287)ctC>ctT p.L429L PGD_ENST00000270776.8_Silent_p.L442L|PGD_ENST00000498356.1_3'UTR|PGD_ENST00000541529.1_Silent_p.L420L P52209 6PGD_HUMAN phosphogluconate dehydrogenase 442 pentose-phosphate shunt, oxidative branch cytosol NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1) 14 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) 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)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487) CAGCCAGCCTCATCCAGGTAA 0.592000 36 141 0 0 1 0 0 ANKRD36C 400986 broad.mit.edu 37 2 96557463 96557463 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:96557463G>A ENST00000456556.1 - 46 2891 c.2807C>T c.(2806-2808)tCt>tTt p.S936F ANKRD36C_ENST00000419039.2_5'UTR|ANKRD36C_ENST00000420871.2_Missense_Mutation_p.S187F|ANKRD36C_ENST00000295246.5_Missense_Mutation_p.S357F ankyrin repeat domain 36C breast(1)|endometrium(8)|kidney(5)|lung(4) 18 ATTCAAAACAGAATCTTTCTC 0.289000 3 6 0 0 1 0 0 YIF1B 90522 broad.mit.edu 37 19 38799901 38799901 + Missense_Mutation SNP C C A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:38799901C>A ENST00000392124.3 - 2 586 c.272G>T c.(271-273)aGa>aTa p.R91I YIF1B_ENST00000592694.1_Missense_Mutation_p.R91I|YIF1B_ENST00000337679.8_Missense_Mutation_p.R119I|YIF1B_ENST00000591784.1_Missense_Mutation_p.R91I|YIF1B_ENST00000591755.1_Missense_Mutation_p.R119I|YIF1B_ENST00000339413.6_Missense_Mutation_p.R122I|YIF1B_ENST00000329420.8_Missense_Mutation_p.R107I|YIF1B_ENST00000587361.1_5'UTR|YIF1B_ENST00000592246.1_Intron NM_033557.3 NP_291035.1 Q5BJH7 YIF1B_HUMAN Yip1 interacting factor homolog B (S. cerevisiae) 122 integral to membrane central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1) 10 all_cancers(60;1.07e-06) Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) GCCCAGCTTTCTGCCCACATA 0.597000 73 246 4.03997e-35 4.31999e-35 1 1 0 IFT172 26160 broad.mit.edu 37 2 27676285 27676285 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:27676285C>G ENST00000260570.3 - 35 4020 c.3917G>C c.(3916-3918)gGa>gCa p.G1306A NM_015662.1 NP_056477.1 Q9UG01 IF172_HUMAN intraflagellar transport 172 homolog (Chlamydomonas) 1306 cilium assembly cilium binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 43 Acute lymphoblastic leukemia(172;0.155) GCCGCTGTTTCCAGAGTCTCG 0.587000 19 89 0 0 1 0 0 TNFRSF10A 8797 broad.mit.edu 37 8 23049437 23049437 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:23049437C>T ENST00000221132.3 - 10 1241 c.1177G>A c.(1177-1179)Gag>Aag p.E393K NM_003844.3 NP_003835.3 O00220 TR10A_HUMAN tumor necrosis factor receptor superfamily, member 10a 393 Death. activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors caspase activator activity|death receptor activity|TRAIL binding|transcription factor binding p.E393K(1) NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1) 16 Prostate(55;0.0421)|Breast(100;0.14) Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646) ACATCGATCTCATTTTTCGTG 0.522000 47 51 0 0 1 0 0 DOPEY2 9980 broad.mit.edu 37 21 37618697 37618697 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr21:37618697G>C ENST00000399151.3 + 19 4504 c.4419G>C c.(4417-4419)caG>caC p.Q1473H NM_005128.2 NP_005119.2 Q9Y3R5 DOP2_HUMAN dopey family member 2 1473 endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport Golgi membrane autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 GGGAGTGGCAGAGAGCCCTGA 0.647000 8 33 0 0 1 0 0 SLIT3 6586 broad.mit.edu 37 5 168175380 168175380 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:168175380C>G ENST00000519560.1 - 20 2616 c.2197G>C c.(2197-2199)Gag>Cag p.E733Q SLIT3_ENST00000332966.8_Missense_Mutation_p.E733Q|SLIT3_ENST00000404867.3_Missense_Mutation_p.E733Q NM_001271946.1|NM_003062.2 NP_001258875.1|NP_003053 O75094 SLIT3_HUMAN slit homolog 3 (Drosophila) 733 LRRNT 4. apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) ACCACTGTCTCCATACAGGTG 0.632000 28 94 0 0 1 0 0 OR2T8 343172 broad.mit.edu 37 1 248085113 248085113 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:248085113C>G ENST00000319968.4 + 1 794 c.794C>G c.(793-795)tCc>tGc p.S265C NM_001005522.1 NP_001005522.1 A6NH00 OR2T8_HUMAN olfactory receptor, family 2, subfamily T, member 8 265 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.S265Y(1) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 34 all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) all_cancers(173;0.0211) OV - Ovarian serous cystadenocarcinoma(106;0.0319) TCCCACAGGTCCACTAACCAC 0.493000 22 64 0 0 1 0 0 DMRT3 58524 broad.mit.edu 37 9 990886 990886 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:990886C>T ENST00000190165.2 + 2 1338 c.1300C>T c.(1300-1302)Cgg>Tgg p.R434W NM_021240.2 NP_067063.1 Q9NQL9 DMRT3_HUMAN doublesex and mab-3 related transcription factor 3 434 cell differentiation|multicellular organismal development|sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1) 26 all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08) Lung(218;0.0196) GGAAGACCCTCGGATTTCCAT 0.542000 27 100 0 0 1 0 0 PTPN21 11099 broad.mit.edu 37 14 88945337 88945337 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:88945337G>C ENST00000556564.1 - 13 2722 c.2438C>G c.(2437-2439)tCt>tGt p.S813C PTPN21_ENST00000328736.3_Missense_Mutation_p.S813C NM_007039.3 NP_008970.2 Q16825 PTN21_HUMAN protein tyrosine phosphatase, non-receptor type 21 813 cytoplasm|cytoskeleton binding|protein tyrosine phosphatase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 TTTCTTCAGAGAGTCCCTCCG 0.662000 42 110 0 0 1 0 0 SLITRK3 22865 broad.mit.edu 37 3 164907342 164907342 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:164907342G>A ENST00000475390.1 - 2 1720 c.1277C>T c.(1276-1278)tCt>tTt p.S426F SLITRK3_ENST00000241274.3_Missense_Mutation_p.S426F O94933 SLIK3_HUMAN SLIT and NTRK-like family, member 3 426 integral to membrane NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5) 119 CCAAAAATCAGAACGGTATAT 0.388000 HNSCC(40;0.11) 11 38 0 0 1 0 0 EXT1 2131 broad.mit.edu 37 8 118847773 118847773 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:118847773C>T ENST00000378204.2 - 3 1880 c.1074G>A c.(1072-1074)gtG>gtA p.V358V NM_000127.2 NP_000118.2 Q16394 EXT1_HUMAN exostosin glycosyltransferase 1 358 glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development Golgi membrane|integral to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2) 38 all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173) STAD - Stomach adenocarcinoma(47;0.012) TGCTGAGCATCACAGGGACGC 0.478000 """Mis, N, F, S""" """exostoses, osteosarcoma""" Langer-Giedion syndrome;Hereditary Multiple Exostoses 15 41 0 0 1 0 0 MGRN1 23295 broad.mit.edu 37 16 4674988 4674988 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr16:4674988C>G ENST00000399577.5 + 1 120 c.27C>G c.(25-27)atC>atG p.I9M MGRN1_ENST00000415496.1_Missense_Mutation_p.I9M|MGRN1_ENST00000588994.1_Missense_Mutation_p.I9M|MGRN1_ENST00000262370.7_Missense_Mutation_p.I9M|MGRN1_ENST00000586183.1_Missense_Mutation_p.I9M NM_001142290.2 NP_001135762.1 O60291 MGRN1_HUMAN mahogunin ring finger 1, E3 ubiquitin protein ligase 9 endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination cytosol|early endosome|nucleus|plasma membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 18 GCCGCCGCATCGCGGGGGTGG 0.736000 3 14 0 0 1 0 0 ZFHX4 79776 broad.mit.edu 37 8 77775830 77775830 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:77775830G>A ENST00000521891.2 + 11 10328 c.9880G>A c.(9880-9882)Gag>Aag p.E3294K ZFHX4_ENST00000050961.6_Missense_Mutation_p.E3245K|ZFHX4_ENST00000518282.1_Missense_Mutation_p.E3268K|ZFHX4_ENST00000455469.2_Missense_Mutation_p.E3249K NM_024721.4 NP_078997.4 Q86UP3 ZFHX4_HUMAN zinc finger homeobox 4 3245 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6) 432 BRCA - Breast invasive adenocarcinoma(89;0.0895) CTGTGGCATGGAGAGCCTCTT 0.527000 HNSCC(33;0.089) 17 51 0 0 1 0 0 TJP2 9414 broad.mit.edu 37 9 71851923 71851923 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:71851923G>A ENST00000377245.4 + 14 2258 c.2050G>A c.(2050-2052)Gat>Aat p.D684N TJP2_ENST00000453658.2_Missense_Mutation_p.D661N|TJP2_ENST00000535702.1_Missense_Mutation_p.D688N|TJP2_ENST00000265384.7_Missense_Mutation_p.D684N|TJP2_ENST00000348208.4_Missense_Mutation_p.D684N|TJP2_ENST00000539225.1_Missense_Mutation_p.D715N NM_004817.3 NP_004808.2 Q9UDY2 ZO2_HUMAN tight junction protein 2 684 Guanylate kinase-like. cellular component disassembly involved in apoptosis adherens junction|cytoplasm|nucleus|tight junction guanylate kinase activity|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1) 35 GGACCGGGCAGATTTCTGGAG 0.512000 41 173 0 0 1 0 0 ZNF334 55713 broad.mit.edu 37 20 45130355 45130355 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr20:45130355C>T ENST00000457685.2 - 6 2832 c.1509G>A c.(1507-1509)gaG>gaA p.E503E ZNF334_ENST00000347606.4_Silent_p.E541E|ZNF334_ENST00000593880.1_Silent_p.E564E Q9HCZ1 ZN334_HUMAN zinc finger protein 334 541 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 32 Myeloproliferative disorder(115;0.0122) CATATGGTCTCTCCCATATAG 0.448000 40 149 0 0 1 0 0 BEGAIN 57596 broad.mit.edu 37 14 101005143 101005143 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:101005143G>A ENST00000556751.1 - 5 4157 c.753C>T c.(751-753)gcC>gcT p.A251A BEGAIN_ENST00000443071.2_Silent_p.A315A|BEGAIN_ENST00000355173.2_Silent_p.A315A Q9BUH8 BEGIN_HUMAN brain-enriched guanylate kinase-associated 315 cytoplasm|membrane protein binding cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1) 14 Melanoma(154;0.212) TCAGCGTGCTGGCCTGCGCGT 0.672000 9 17 0 0 1 0 0 MAATS1 89876 broad.mit.edu 37 3 119469912 119469912 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:119469912G>A ENST00000273390.5 + 17 2349 c.2272G>A c.(2272-2274)Gag>Aag p.E758K MAATS1_ENST00000472117.1_3'UTR NM_033364.3 NP_203528 MYCBP-associated, testis expressed 1 CATGTTACTTGAGAAAGAAAC 0.418000 16 62 0 0 1 0 0 CPB2 1361 broad.mit.edu 37 13 46658451 46658451 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr13:46658451C>T ENST00000181383.4 - 3 194 c.178G>A c.(178-180)Gac>Aac p.D60N CPB2-AS1_ENST00000415033.2_RNA|CPB2_ENST00000439329.3_Missense_Mutation_p.D60N|CPB2-AS1_ENST00000606991.1_RNA|CPB2-AS1_ENST00000606243.1_RNA|CPB2-AS1_ENST00000606351.1_RNA NM_001872.3 NP_001863.3 Q96IY4 CBPB2_HUMAN carboxypeptidase B2 (plasma) 60 blood coagulation|fibrinolysis|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 21 Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;5.44e-05) ACAATAAGGTCAGCTGTTACC 0.378000 24 53 0 0 1 0 0 TRPM6 140803 broad.mit.edu 37 9 77416817 77416817 + Nonsense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:77416817G>C ENST00000451710.3 - 16 2243 c.2006C>G c.(2005-2007)tCa>tGa p.S669* TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000376864.4_Nonsense_Mutation_p.S669*|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000449912.2_Nonsense_Mutation_p.S664*|TRPM6_ENST00000361255.3_Nonsense_Mutation_p.S664*|TRPM6_ENST00000360774.1_Nonsense_Mutation_p.S669* Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, subfamily M, member 6 669 response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 126 CACTTACTTTGAGTAATTCTT 0.408000 18 66 0 0 1 0 0 ZBTB40 9923 broad.mit.edu 37 1 22832611 22832611 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:22832611G>A ENST00000404138.1 + 7 1748 c.1237G>A c.(1237-1239)Gaa>Aaa p.E413K ZBTB40_ENST00000375647.4_Missense_Mutation_p.E413K|ZBTB40_ENST00000374651.4_Missense_Mutation_p.E301K NM_001083621.1 NP_001077090.1 Q9NUA8 ZBT40_HUMAN zinc finger and BTB domain containing 40 413 bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 26 Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216) CAGAATGACTGAAGAGAAGAC 0.483000 7 51 0 0 1 0 0 ZNF750 79755 broad.mit.edu 37 17 80788081 80788081 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:80788081C>G ENST00000269394.3 - 3 2942 c.2109G>C c.(2107-2109)aaG>aaC p.K703N TBCD_ENST00000539345.2_Intron|ZNF750_ENST00000572562.1_Missense_Mutation_p.K304N|TBCD_ENST00000355528.4_Intron|TBCD_ENST00000397466.2_Intron NM_024702.2 NP_078978.2 Q32MQ0 ZN750_HUMAN zinc finger protein 750 703 intracellular zinc ion binding NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 31 Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0514)|all_epithelial(8;0.0748) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149) GCTTCGCCTTCTTAGCTCCTT 0.567000 30 93 0 0 1 0 0 POLR3B 55703 broad.mit.edu 37 12 106770206 106770206 + Silent SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:106770206G>C ENST00000228347.4 + 7 696 c.474G>C c.(472-474)ctG>ctC p.L158L POLR3B_ENST00000539066.1_Silent_p.L100L NM_018082.5 NP_060552.4 Q9NW08 RPC2_HUMAN polymerase (RNA) III (DNA directed) polypeptide B 158 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2) 57 TTGCCAAACTGAACGAATGTC 0.368000 15 59 0 0 1 0 0 STX10 8677 broad.mit.edu 37 19 13260331 13260331 + Silent SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:13260331C>G ENST00000589083.1 - 3 334 c.282G>C c.(280-282)cgG>cgC p.R94R STX10_ENST00000587230.1_Silent_p.R94R|STX10_ENST00000242770.5_Silent_p.R94R|STX10_ENST00000343587.5_Intron NM_001271610.1 NP_001258539.1 O60499 STX10_HUMAN syntaxin 10 94 Golgi vesicle transport|intracellular protein transport|retrograde transport, endosome to Golgi Golgi membrane|integral to membrane SNAP receptor activity breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1) 6 OV - Ovarian serous cystadenocarcinoma(19;3.41e-21) CCTCTCGCATCCGCTCCACGA 0.517000 32 91 0 0 1 0 0 ADAM30 11085 broad.mit.edu 37 1 120436660 120436660 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:120436660C>T ENST00000369400.1 - 1 2458 c.2300G>A c.(2299-2301)gGa>gAa p.G767E NM_021794.3 NP_068566.2 Q9UKF2 ADA30_HUMAN ADAM metallopeptidase domain 30 767 5 X 9 AA approximate repeats. proteolysis integral to membrane metalloendopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2) 38 all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234) all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138) Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117) TTCTTCCTGTCCAGTTTTTGC 0.358000 54 190 0 0 1 0 0 UNC79 57578 broad.mit.edu 37 14 94044269 94044269 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:94044269C>T ENST00000553484.1 + 18 2447 c.2293C>T c.(2293-2295)Cgg>Tgg p.R765W UNC79_ENST00000256339.4_Missense_Mutation_p.R588W|UNC79_ENST00000555664.1_Missense_Mutation_p.R765W|UNC79_ENST00000393151.2_Missense_Mutation_p.R765W Q9P2D8 UNC79_HUMAN unc-79 homolog (C. elegans) 765 integral to membrane breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4) 118 GAGTCCGTTTCGGAGTCCTTT 0.448000 37 168 0 0 1 0 0 ZFYVE26 23503 broad.mit.edu 37 14 68217796 68217796 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:68217796G>C ENST00000347230.4 - 41 7527 c.7389C>G c.(7387-7389)atC>atG p.I2463M ZFYVE26_ENST00000557306.1_Missense_Mutation_p.I309M NM_015346.3 NP_056161.2 Q68DK2 ZFY26_HUMAN zinc finger, FYVE domain containing 26 2463 cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination centrosome|midbody metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4) 94 all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115) GTATTGCCTGGATCAGGCCCT 0.552000 24 60 0 0 1 0 0 HOOK2 29911 broad.mit.edu 37 19 12885536 12885536 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:12885536C>T ENST00000264827.5 - 3 321 c.151G>A c.(151-153)Gag>Aag p.E51K HOOK2_ENST00000397668.3_Missense_Mutation_p.E51K|HOOK2_ENST00000589965.1_5'UTR NM_001100176.1 NP_001093646.1 Q96ED9 HOOK2_HUMAN hook microtubule-tethering protein 2 51 Required for localization to the centrosome and induction of aggresome formation.|Sufficient for interaction with microtubules. early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport centrosome|FHF complex|microtubule identical protein binding|microtubule binding breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1) 20 AGCCATGCCTCGTTGAACCAG 0.567000 14 39 0 0 1 0 0 DTL 51514 broad.mit.edu 37 1 212274365 212274365 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:212274365G>A ENST00000366991.4 + 14 2347 c.2033G>A c.(2032-2034)cGa>cAa p.R678Q DTL_ENST00000542077.1_Missense_Mutation_p.R636Q|DTL_ENST00000475419.1_3'UTR NM_016448.2 NP_057532.2 Q9NZJ0 DTL_HUMAN denticleless E3 ubiquitin protein ligase homolog (Drosophila) 678 DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process centrosome|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|nuclear membrane protein binding breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102) CCATCTCCACGAAGTCCGTCA 0.488000 13 53 0 0 1 0 0 BCL9 607 broad.mit.edu 37 1 147091378 147091378 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:147091378C>T ENST00000234739.3 + 8 2157 c.1417C>T c.(1417-1419)Ctg>Ttg p.L473L NM_004326.2 NP_004317.2 O00512 BCL9_HUMAN B-cell CLL/lymphoma 9 473 Pro-rich. Wnt receptor signaling pathway nucleus protein binding breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 7 all_hematologic(923;0.115) GATAGCGTGGCTGAAACTGCA 0.517000 T """IGH@, IGL@""" B-ALL 34 84 0 0 1 0 0 FLAD1 80308 broad.mit.edu 37 1 154956263 154956263 + Silent SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:154956263C>G ENST00000368433.1 + 1 436 c.93C>G c.(91-93)ctC>ctG p.L31L FLAD1_ENST00000487371.1_Intron|FLAD1_ENST00000368431.3_Intron|FLAD1_ENST00000292180.3_Silent_p.L31L|FLAD1_ENST00000315144.10_Intron|FLAD1_ENST00000368432.1_Intron Q8NFF5 FAD1_HUMAN flavin adenine dinucleotide synthetase 1 31 FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process cytosol ATP binding|FMN adenylyltransferase activity p.L31L(1) endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3) 22 all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) BRCA - Breast invasive adenocarcinoma(34;0.00034) GGGTCTTCCTCGAAGGAAGCA 0.552000 36 101 0 0 1 0 0 CEP164 22897 broad.mit.edu 37 11 117244524 117244524 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:117244524G>A ENST00000278935.3 + 10 1357 c.1210G>A c.(1210-1212)Gac>Aac p.D404N CEP164_ENST00000533706.1_3'UTR NM_001271933.1|NM_014956.4 NP_001258862.1|NP_055771.4 Q9UPV0 CE164_HUMAN centrosomal protein 164kDa 404 cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis centriole|cytosol|nucleus breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3) 47 all_hematologic(175;0.0487) Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008) CATAGCTTCTGACCCCAAGTC 0.498000 24 54 0 0 1 0 0 SMARCA2 6595 broad.mit.edu 37 9 2056767 2056767 + Silent SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:2056767G>C ENST00000382203.1 + 7 1478 c.1269G>C c.(1267-1269)ctG>ctC p.L423L SMARCA2_ENST00000357248.2_Silent_p.L423L|SMARCA2_ENST00000382194.1_Silent_p.L423L|SMARCA2_ENST00000349721.2_Silent_p.L423L P51531 SMCA2_HUMAN SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 423 chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 56 all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09) GBM - Glioblastoma multiforme(50;0.0475) GCCAGACTCTGAGAGAAGCTC 0.572000 15 29 0 0 1 0 0 ARMC9 80210 broad.mit.edu 37 2 232143143 232143143 + Nonsense_Mutation SNP C C A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:232143143C>A ENST00000349938.4 + 16 1717 c.1523C>A c.(1522-1524)tCg>tAg p.S508* ARMC9_ENST00000483477.1_3'UTR NM_001271466.1|NM_025139.4 NP_001258395.1|NP_079415 Q7Z3E5 ARMC9_HUMAN armadillo repeat containing 9 508 binding endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 22 Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205) Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189) AAAGTCCTTTCGGATCTTCTT 0.527000 40 106 2.95478e-19 3.1398e-19 1 1 0 DCUN1D1 54165 broad.mit.edu 37 3 182683333 182683333 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:182683333C>G ENST00000292782.4 - 2 365 c.212G>C c.(211-213)aGa>aCa p.R71T DCUN1D1_ENST00000469954.1_Missense_Mutation_p.R56T NM_020640.2 NP_065691.2 Q96GG9 DCNL1_HUMAN DCN1, defective in cullin neddylation 1, domain containing 1 71 DCUN1. ubiquitin ligase complex protein binding endometrium(2)|large_intestine(4)|lung(8)|ovary(1) 15 all_cancers(143;9.04e-15)|Ovarian(172;0.0355) all cancers(12;2.54e-44)|Epithelial(37;4.71e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;7.41e-21) ACCTTTGTATCTATTGTACAG 0.328000 5 11 0 0 1 0 0 C10orf128 170371 broad.mit.edu 37 10 50374939 50374939 + Silent SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:50374939C>G ENST00000374148.1 - 3 267 c.213G>C c.(211-213)ctG>ctC p.L71L C10orf128_ENST00000374151.3_Silent_p.L71L|C10orf128_ENST00000374153.2_Silent_p.L71L|C10orf128_ENST00000474718.1_Silent_p.L71L|C10orf128_ENST00000470884.1_5'UTR Q5T292 CJ128_HUMAN chromosome 10 open reading frame 128 71 integral to membrane breast(1)|large_intestine(1)|lung(1) 3 GCGTGCTTTTCAGGTCGGAAG 0.612000 28 80 0 0 1 0 0 TMEM63C 57156 broad.mit.edu 37 14 77706018 77706018 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:77706018C>T ENST00000298351.4 + 12 1023 c.879C>T c.(877-879)atC>atT p.I293I NM_020431.2 NP_065164.2 Q9P1W3 TM63C_HUMAN transmembrane protein 63C 293 integral to membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1) 23 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0342) TGATCAGGATCCACCCCTGTG 0.612000 13 33 0 0 1 0 0 CSNK1A1L 122011 broad.mit.edu 37 13 37678589 37678589 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr13:37678589C>G ENST00000379800.3 - 1 1214 c.805G>C c.(805-807)Gag>Cag p.E269Q NM_145203.5 NP_660204.2 Q8N752 KC1AL_HUMAN casein kinase 1, alpha 1-like 269 Protein kinase. Wnt receptor signaling pathway cytoplasm ATP binding|protein serine/threonine kinase activity p.E269K(1) NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 37 Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109) all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407) GGGACTTCCTCAAAGCGCAGC 0.443000 38 112 0 0 1 0 0 EML5 161436 broad.mit.edu 37 14 89131686 89131686 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:89131686G>A ENST00000554922.1 - 22 3520 c.3272C>T c.(3271-3273)tCa>tTa p.S1091L EML5_ENST00000352093.5_Missense_Mutation_p.S1053L|EML5_ENST00000380664.5_Missense_Mutation_p.S1091L NM_183387.2 NP_899243.1 Q05BV3 EMAL5_HUMAN echinoderm microtubule associated protein like 5 1091 cytoplasm|microtubule breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 CTTACCAGGTGAAAATCGAAT 0.333000 6 18 0 0 1 0 0 TRPC3 7222 broad.mit.edu 37 4 122853555 122853555 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr4:122853555C>T ENST00000264811.5 - 1 1057 c.639G>A c.(637-639)tcG>tcA p.S213S TRPC3_ENST00000379645.3_Silent_p.S286S|TRPC3_ENST00000513531.1_Silent_p.S213S NM_003305.2 NP_003296.1 Q13507 TRPC3_HUMAN transient receptor potential cation channel, subfamily C, member 3 201 axon guidance|phototransduction|platelet activation integral to plasma membrane protein binding|store-operated calcium channel activity NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 CATTGATCCTCGAGCGTGAGT 0.612000 13 55 0 0 1 0 0 SLC1A7 6512 broad.mit.edu 37 1 53580452 53580452 + Missense_Mutation SNP C C G rs149844615 byFrequency TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:53580452C>G ENST00000371494.4 - 3 536 c.409G>C c.(409-411)Gat>Cat p.D137H RP11-334A14.8_ENST00000439621.1_RNA|SLC1A7_ENST00000371491.4_Missense_Mutation_p.D137H NM_006671.4 NP_006662.3 O00341 EAA5_HUMAN solute carrier family 1 (glutamate transporter), member 7 137 integral to membrane|plasma membrane high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1) 26 Colorectal(1306;0.234) L-Glutamic Acid(DB00142) AACAGGGCATCGGCTGAGCTC 0.642000 14 42 0 0 1 0 0 PRPH 5630 broad.mit.edu 37 12 49689307 49689307 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:49689307C>T ENST00000257860.4 + 1 1823 c.324C>T c.(322-324)ttC>ttT p.F108F RP11-161H23.9_ENST00000553259.1_RNA NM_006262.3 NP_006253.2 P41219 PERI_HUMAN peripherin 108 Coil 1A.|Rod. structural molecule activity kidney(1)|large_intestine(2)|lung(8)|skin(1) 12 ACGACCGCTTCGCCAACTTCA 0.682000 8 13 0 0 1 0 0 PCDHA13 56136 broad.mit.edu 37 5 140262519 140262519 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:140262519G>A ENST00000289272.2 + 1 666 c.666G>A c.(664-666)ctG>ctA p.L222L PCDHA9_ENST00000532602.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA13_ENST00000409494.1_Silent_p.L222L NM_018904.2|NM_031865.1 NP_061727.1|NP_114071.1 NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 95 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AACCCGAGCTGACTGGCACAG 0.453000 18 70 0 0 1 0 0 ZNF503 84858 broad.mit.edu 37 10 77158843 77158843 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:77158843C>T ENST00000372524.4 - 2 2091 c.1605G>A c.(1603-1605)ctG>ctA p.L535L RP11-399K21.11_ENST00000418818.2_lincRNA|ZNF503_ENST00000535216.1_Silent_p.L535L NM_032772.4 NP_116161.2 Q96F45 ZN503_HUMAN zinc finger protein 503 535 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding lung(4)|ovary(1)|skin(1) 6 all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088) AGTGGCTCAGCAGCTCTTCGG 0.652000 17 53 0 0 1 0 0 TAF1C 9013 broad.mit.edu 37 16 84215615 84215615 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr16:84215615C>T ENST00000567759.1 - 8 953 c.771G>A c.(769-771)ggG>ggA p.G257G TAF1C_ENST00000566732.1_Silent_p.G257G|TAF1C_ENST00000378541.4_Silent_p.G257G|TAF1C_ENST00000341690.6_Silent_p.G190G|TAF1C_ENST00000541676.1_Silent_p.G190G|TAF1C_ENST00000570117.1_5'UTR NM_005679.3 NP_005670 Q15572 TAF1C_HUMAN TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa 257 regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter nucleoplasm DNA binding endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 26 GTCCAGGTTTCCCAAGGAATT 0.547000 39 119 0 0 1 0 0 ELMSAN1 91748 broad.mit.edu 37 14 74203900 74203900 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:74203900C>T ENST00000286523.5 - 3 2332 c.1550G>A c.(1549-1551)cGa>cAa p.R517Q ELMSAN1_ENST00000394071.2_Missense_Mutation_p.R517Q NM_194278.3 NP_919254.2 ELM2 and Myb/SANT-like domain containing 1 ACTGTCTTCTCGTGCTCGCTT 0.552000 15 52 0 0 1 0 0 CARF 79800 broad.mit.edu 37 2 203847053 203847053 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:203847053G>C ENST00000402905.3 + 15 2269 c.1948G>C c.(1948-1950)Gaa>Caa p.E650Q CARF_ENST00000428585.1_Missense_Mutation_p.E574Q|CARF_ENST00000414439.1_Missense_Mutation_p.E548Q|CARF_ENST00000438828.2_Missense_Mutation_p.E650Q|CARF_ENST00000320443.8_Missense_Mutation_p.E650Q|CARF_ENST00000545253.1_Missense_Mutation_p.E562Q|WDR12_ENST00000477723.1_Intron|CARF_ENST00000545262.1_Missense_Mutation_p.E574Q NM_001104586.1|NM_001282910.1|NM_001282911.1|NM_001282912.1 NP_001098056.1|NP_001269839.1|NP_001269840.1|NP_001269841.1 calcium responsive transcription factor CGAGCTGGTAGAAGTTGGAGA 0.428000 10 42 0 0 1 0 0 SMC3 9126 broad.mit.edu 37 10 112361525 112361525 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:112361525G>A ENST00000361804.4 + 24 2901 c.2775G>A c.(2773-2775)atG>atA p.M925I NM_005445.3 NP_005436.1 Q9UQE7 SMC3_HUMAN structural maintenance of chromosomes 3 925 cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(234;0.0848)|Lung NSC(174;0.238) Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127) TGGAAAAGATGACAAATCGGC 0.378000 24 60 0 0 1 0 0 TNS1 7145 broad.mit.edu 37 2 218674590 218674590 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:218674590G>C ENST00000171887.4 - 30 5369 c.4917C>G c.(4915-4917)ttC>ttG p.F1639L TNS1_ENST00000430930.1_Missense_Mutation_p.F1618L|TNS1_ENST00000419504.1_Missense_Mutation_p.F1625L NM_022648.4 NP_072174.3 Q9HBL0 TENS1_HUMAN tensin 1 1639 cytoplasm|cytoskeleton|focal adhesion actin binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) CAGAGACTTTGAAGTGAACGA 0.552000 13 43 0 0 1 0 0 NCBP1 4686 broad.mit.edu 37 9 100417166 100417166 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:100417166C>T ENST00000375147.3 + 12 1431 c.1175C>T c.(1174-1176)gCa>gTa p.A392V NM_002486.4 NP_002477.1 Q09161 NCBP1_HUMAN nuclear cap binding protein subunit 1, 80kDa 392 gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex protein binding|RNA cap binding NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4) 19 Acute lymphoblastic leukemia(62;0.158) TCACAGCTTGCACAGGCAACT 0.358000 11 38 0 0 1 0 0 LMBRD1 55788 broad.mit.edu 37 6 70411792 70411792 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:70411792G>A ENST00000370577.3 - 10 1198 c.969C>T c.(967-969)ctC>ctT p.L323L LMBRD1_ENST00000370570.1_Silent_p.L250L NM_018368.3 NP_060838.3 Q9NUN5 LMBD1_HUMAN LMBR1 domain containing 1 323 interspecies interaction between organisms|transport integral to membrane|lysosomal membrane cobalamin binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1) 31 TTGACAAGAAGAGAGAAATTA 0.289000 9 26 0 0 1 0 0 MIR1302-3 100302128 broad.mit.edu 37 2 114340656 114340656 + RNA SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:114340656C>G ENST00000408128.1 - 0 17 NR_031632.1 atctaaaattcaaactagctg 0.398000 30 127 0 0 1 0 0 PRDM16 63976 broad.mit.edu 37 1 3348546 3348546 + Nonsense_Mutation SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:3348546G>T ENST00000378398.3 + 17 3620 c.3538G>T c.(3538-3540)Gaa>Taa p.E1180* PRDM16_ENST00000514189.1_Intron|PRDM16_ENST00000442529.2_Nonsense_Mutation_p.E1179*|PRDM16_ENST00000270722.5_Nonsense_Mutation_p.E1180*|PRDM16_ENST00000441472.2_Nonsense_Mutation_p.E1179*|PRDM16_ENST00000511072.1_Intron|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000378391.2_Nonsense_Mutation_p.E1180* Q9HAZ2 PRD16_HUMAN PR domain containing 16 1180 Mediates interaction with SKI and regulation of TGF-beta signaling. brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent transcriptional repressor complex protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3) 59 all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111) all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134) Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137) TGAGGACCACGAAGGCGGTCT 0.592000 T EVI1 """MDS, AML""" 16 69 4.96729e-08 5.16197e-08 1 1 0 C3orf30 152405 broad.mit.edu 37 3 118865552 118865552 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:118865552G>C ENST00000295622.1 + 1 556 c.516G>C c.(514-516)caG>caC p.Q172H NM_152539.2 NP_689752.2 Q96M34 CC030_HUMAN chromosome 3 open reading frame 30 172 NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(114;0.222) CATCTGACCAGAGAGGTTCCA 0.527000 24 80 0 0 1 0 0 SP100 6672 broad.mit.edu 37 2 231379918 231379918 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:231379918G>A ENST00000264052.5 + 25 2558 c.2203G>A c.(2203-2205)Gaa>Aaa p.E735K SP100_ENST00000340126.4_Intron NM_003113.3 NP_003104.2 P23497 SP100_HUMAN SP100 nuclear antigen 735 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon cytoplasm|nuclear periphery|nucleolus|PML body chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1) 25 Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) AGGAAAATTTGAAGATATGGC 0.388000 23 73 0 0 1 0 0 PRDX2 7001 broad.mit.edu 37 19 12911760 12911760 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:12911760G>A ENST00000301522.2 - 3 355 c.227C>T c.(226-228)tCg>tTg p.S76L PRDX2_ENST00000334482.5_Missense_Mutation_p.S76L|CTD-2659N19.10_ENST00000585496.1_RNA|PRDX2_ENST00000435703.1_Missense_Mutation_p.S76L NM_005809.4 NP_005800.3 P32119 PRDX2_HUMAN peroxiredoxin 2 76 Thioredoxin. anti-apoptosis|cell redox homeostasis|hydrogen peroxide catabolic process|removal of superoxide radicals thioredoxin peroxidase activity endometrium(1)|large_intestine(1)|lung(1)|prostate(1) 4 AGAGTCCACCGAGACGCCCAG 0.587000 7 31 0 0 1 0 0 MYPN 84665 broad.mit.edu 37 10 69902716 69902716 + Nonsense_Mutation SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:69902716G>T ENST00000358913.5 + 3 1410 c.922G>T c.(922-924)Gag>Tag p.E308* MYPN_ENST00000354393.2_Nonsense_Mutation_p.E33*|MYPN_ENST00000540630.1_Nonsense_Mutation_p.E308*|MYPN_ENST00000373675.3_Nonsense_Mutation_p.E308* NM_001256267.1|NM_032578.3 NP_001243196.1|NP_115967.2 Q86TC9 MYPN_HUMAN myopalladin 308 Ig-like 1.|Interaction with CARP. nucleus|sarcomere actin binding breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5) 94 TGAAGGCAAGGAGCTTGAAAA 0.453000 14 60 2.23348e-06 2.29989e-06 1 1 0 HTT 3064 broad.mit.edu 37 4 3176447 3176447 + Splice_Site SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr4:3176447G>A ENST00000355072.5 + 32 4311 c.e32-1 NM_002111.6 NP_002102 P42858 HD_HUMAN huntingtin establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 87 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) CCATTTGGCAGATGGTTTGAT 0.423000 14 31 0 0 1 0 0 PTPLAD1 51495 broad.mit.edu 37 15 65847289 65847289 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr15:65847289G>A ENST00000261875.5 + 3 361 c.195G>A c.(193-195)gtG>gtA p.V65V PTPLAD1_ENST00000568793.1_Silent_p.V40V|PTPLAD1_ENST00000562901.1_5'UTR|PTPLAD1_ENST00000569894.1_5'UTR|PTPLAD1_ENST00000566074.1_5'UTR|PTPLAD1_ENST00000566511.1_5'UTR|PTPLAD1_ENST00000565299.1_Silent_p.V103V|PTPLAD1_ENST00000442729.2_Silent_p.V65V NM_016395.2 NP_057479.2 Q9P035 HACD3_HUMAN protein tyrosine phosphatase-like A domain containing 1 65 CS. activation of JUN kinase activity|fatty acid biosynthetic process|I-kappaB kinase/NF-kappaB cascade|Rac protein signal transduction endoplasmic reticulum membrane|integral to membrane GTPase activator activity|lyase activity|protein binding NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|pancreas(1) 5 TAGACCTTGTGAAACCAGAGG 0.413000 39 115 0 0 1 0 0 PCDHA4 56144 broad.mit.edu 37 5 140188377 140188377 + Silent SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:140188377G>T ENST00000530339.1 + 1 1605 c.1605G>T c.(1603-1605)gtG>gtT p.V535V PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Silent_p.V535V|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000356878.4_Silent_p.V535V NM_018907.2 NP_061730.1 breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGTTTCAGGTGACCGCTCGCG 0.652000 59 106 2.66076e-39 2.84877e-39 1 1 0 SSBP2 23635 broad.mit.edu 37 5 80742738 80742738 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:80742738G>A ENST00000320672.4 - 12 937 c.727C>T c.(727-729)Cct>Tct p.P243S SSBP2_ENST00000510060.1_5'UTR|SSBP2_ENST00000509053.1_Missense_Mutation_p.P213S|SSBP2_ENST00000515395.1_Missense_Mutation_p.P221S|SSBP2_ENST00000505980.1_Missense_Mutation_p.P223S|SSBP2_ENST00000514493.1_Missense_Mutation_p.P213S NM_001256732.1|NM_001256733.1|NM_012446.3 NP_001243661.1|NP_001243662.1|NP_036578.2 P81877 SSBP2_HUMAN single-stranded DNA binding protein 2 243 Gly-rich.|Pro-rich. regulation of transcription, DNA-dependent cytoplasm|nucleus single-stranded DNA binding SSBP2/JAK2(4) central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1) 10 Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338) OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29) CCTCCTGGAGGACCCTAAATA 0.343000 14 32 0 0 1 0 0 ARAP1 116985 broad.mit.edu 37 11 72418254 72418254 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:72418254G>C ENST00000359373.5 - 12 2540 c.1689C>G c.(1687-1689)atC>atG p.I563M ARAP1_ENST00000393609.3_Missense_Mutation_p.I563M|ARAP1_ENST00000393605.3_Missense_Mutation_p.I323M|ARAP1_ENST00000455638.2_Missense_Mutation_p.I563M|ARAP1_ENST00000426523.1_Missense_Mutation_p.I318M|ARAP1_ENST00000429686.1_Missense_Mutation_p.I318M|ARAP1_ENST00000334211.8_Missense_Mutation_p.I318M Q96P48 ARAP1_HUMAN ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 563 Arf-GAP. actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction cytosol|Golgi cisterna membrane|plasma membrane ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1) 27 CACAGAGGTTGATGGAGGCCC 0.647000 5 22 0 0 1 0 0 FBXO28 23219 broad.mit.edu 37 1 224345339 224345339 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:224345339G>C ENST00000366862.5 + 5 1041 c.998G>C c.(997-999)gGa>gCa p.G333A FBXO28_ENST00000424254.2_3'UTR NM_015176.3 NP_055991.1 Q9NVF7 FBX28_HUMAN F-box protein 28 333 endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(2)|skin(1) 10 Breast(184;0.206) GBM - Glioblastoma multiforme(131;0.0363) AGTGCTGTAGGAAATTCCTCA 0.478000 28 113 0 0 1 0 0 BEND7 222389 broad.mit.edu 37 10 13494604 13494604 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:13494604C>G ENST00000341083.3 - 7 1258 c.962G>C c.(961-963)aGa>aCa p.R321T BEND7_ENST00000378605.3_Missense_Mutation_p.R334T|BEND7_ENST00000486542.1_5'UTR|BEND7_ENST00000396900.2_Missense_Mutation_p.R373T|BEND7_ENST00000396898.2_Missense_Mutation_p.R386T NM_152751.2 NP_689964.2 Q8N7W2 BEND7_HUMAN BEN domain containing 7 373 BEN. protein binding breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1) 17 TACCCAATCTCTTGGGCCAGG 0.363000 21 70 0 0 1 0 0 FNTB 2342 broad.mit.edu 37 14 65521359 65521359 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:65521359C>T ENST00000246166.2 + 11 1368 c.1134C>T c.(1132-1134)agC>agT p.S378S CHURC1-FNTB_ENST00000549987.1_Silent_p.S413S|MAX_ENST00000341653.2_Intron|FNTB_ENST00000447296.2_Silent_p.S412S|FNTB_ENST00000542227.1_Silent_p.S332S NM_002028.3 NP_002019.1 farnesyltransferase, CAAX box, beta breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 14 all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011) ACTTCGGCAGCGGAGCCATGT 0.612000 8 28 0 0 1 0 0 SPTLC1 10558 broad.mit.edu 37 9 94809914 94809914 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:94809914G>C ENST00000262554.2 - 10 970 c.965C>G c.(964-966)tCt>tGt p.S322C NM_006415.2 NP_006406.1 O15269 SPTC1_HUMAN serine palmitoyltransferase, long chain base subunit 1 322 integral to membrane|SPOTS complex protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1) 14 L-Serine(DB00133)|Pyridoxal Phosphate(DB00114) AATTACAAAAGACCTGCCACA 0.388000 5 19 0 0 1 0 0 TGFBR3 7049 broad.mit.edu 37 1 92177859 92177859 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:92177859G>C ENST00000212355.4 - 13 2572 c.2107C>G c.(2107-2109)Cta>Gta p.L703V TGFBR3_ENST00000525962.1_Missense_Mutation_p.L703V|TGFBR3_ENST00000370399.2_Missense_Mutation_p.L702V NM_001195683.1|NM_003243.4 NP_001182612.1|NP_003234.2 Q03167 TGBR3_HUMAN transforming growth factor, beta receptor III 703 ZP. BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3) 55 all_lung(203;0.00719)|Lung NSC(277;0.0268) all cancers(265;0.0108)|Epithelial(280;0.0825) TCACACTGTAGAAAGAGCAGT 0.488000 16 53 0 0 1 0 0 PCDHB8 56128 broad.mit.edu 37 5 140559962 140559962 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:140559962G>C ENST00000239444.2 + 1 2592 c.2347G>C c.(2347-2349)Gaa>Caa p.E783Q NM_019120.3 NP_061993.2 Q9UN66 PCDB8_HUMAN 783 homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTTTGGGCCAGAAATGGAACA 0.378000 21 98 0 0 1 0 0 FCRL1 115350 broad.mit.edu 37 1 157776905 157776905 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:157776905G>A ENST00000358292.3 - 2 90 c.39C>T c.(37-39)ctC>ctT p.L13L FCRL1_ENST00000491942.1_Silent_p.L13L|FCRL1_ENST00000368176.3_Silent_p.L13L NM_001159397.1 NP_001152869.1 Q96LA6 FCRL1_HUMAN Fc receptor-like 1 13 integral to membrane|plasma membrane receptor activity breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6) 42 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) CAGGTTCACAGAGTGGAGCTG 0.478000 15 45 0 0 1 0 0 OGFR 11054 broad.mit.edu 37 20 61439527 61439527 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr20:61439527G>A ENST00000370461.1 + 1 2290 c.13G>A c.(13-15)Gaa>Aaa p.E5K OGFR_ENST00000290291.6_Intron Q9NZT2 OGFR_HUMAN opioid growth factor receptor 0 regulation of cell growth cytoplasm|membrane|nucleus opioid receptor activity endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3) 17 Breast(26;3.65e-08) GCGCCTCCCCGAAAGACACGG 0.622000 OREG0026118 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 32 0 0 1 0 0 MEGF8 1954 broad.mit.edu 37 19 42863100 42863100 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:42863100G>A ENST00000334370.4 + 29 5771 c.5136G>A c.(5134-5136)ctG>ctA p.L1712L MEGF8_ENST00000251268.6_Silent_p.L1779L NM_001410.2 NP_001401.2 Q7Z7M0 MEGF8_HUMAN multiple EGF-like-domains 8 1779 integral to membrane calcium ion binding|structural molecule activity breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 50 Prostate(69;0.00682) CACCTCACCTGAAGGAGGTGA 0.577000 5 16 0 0 1 0 0 FGGY 55277 broad.mit.edu 37 1 59844459 59844459 + Missense_Mutation SNP C C A rs146728237 byFrequency TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:59844459C>A ENST00000371218.4 + 5 688 c.504C>A c.(502-504)ttC>ttA p.F168L FGGY_ENST00000303721.7_Missense_Mutation_p.F168L|FGGY_ENST00000371212.1_Missense_Mutation_p.F80L|FGGY_ENST00000474476.1_3'UTR NM_001113411.1 NP_001106882.1 Q96C11 FGGY_HUMAN FGGY carbohydrate kinase domain containing 168 carbohydrate metabolic process|cell death|neuron homeostasis kinase activity|phosphotransferase activity, alcohol group as acceptor endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 22 all_cancers(7;7.36e-05) CGGGACATTTCTTTGATCTCC 0.403000 13 57 2.61681e-11 2.74119e-11 1 1 0 C12orf55 144535 broad.mit.edu 37 12 97157951 97157951 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:97157951C>T ENST00000524981.4 + 59 8086 c.8063C>T c.(8062-8064)tCt>tTt p.S2688F chromosome 12 open reading frame 55 AGAAGTAGTTCTGTTAAAGAA 0.333000 4 22 0 0 1 0 0 DNAH17 8632 broad.mit.edu 37 17 76557991 76557991 + Silent SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:76557991G>C ENST00000389840.5 - 12 1765 c.1641C>G c.(1639-1641)gtC>gtG p.V547V DNAH17_ENST00000585328.1_Silent_p.V547V dynein, axonemal, heavy chain 17 NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3) 116 BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656) GCTCCAGCATGACTGAATACC 0.577000 7 31 0 0 1 0 0 PCNT 5116 broad.mit.edu 37 21 47851626 47851626 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr21:47851626G>C ENST00000359568.5 + 38 8355 c.8248G>C c.(8248-8250)Gag>Cag p.E2750Q PCNT_ENST00000480896.1_3'UTR NM_006031.5 NP_006022.3 O95613 PCNT_HUMAN pericentrin 2750 cilium assembly|G2/M transition of mitotic cell cycle cytosol|microtubule calmodulin binding NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 104 Breast(49;0.112) CCTTGCGGCTGAGAAGAGCCG 0.647000 7 36 0 0 1 0 0 ZBTB38 253461 broad.mit.edu 37 3 141161785 141161785 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:141161785G>C ENST00000514251.1 + 4 834 c.555G>C c.(553-555)ttG>ttC p.L185F ZBTB38_ENST00000321464.5_Missense_Mutation_p.L186F|ZBTB38_ENST00000441582.2_Missense_Mutation_p.L185F Q8NAP3 ZBT38_HUMAN zinc finger and BTB domain containing 38 185 positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.L185F(1) breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1) 41 CGCTGGACTTGAGGGCAAGTT 0.498000 24 122 0 0 1 0 0 DHX36 170506 broad.mit.edu 37 3 154002700 154002700 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:154002700C>T ENST00000496811.1 - 18 2188 c.2108G>A c.(2107-2109)gGa>gAa p.G703E DHX36_ENST00000544526.1_Missense_Mutation_p.G689E|DHX36_ENST00000329463.5_Missense_Mutation_p.G689E|DHX36_ENST00000308361.6_Missense_Mutation_p.G703E NM_020865.2 NP_065916.2 Q9H2U1 DHX36_HUMAN DEAH (Asp-Glu-Ala-His) box polypeptide 36 703 cytoplasm|nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1) 35 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) AATCATTTTTCCAATATGTGG 0.418000 22 57 0 0 1 0 0 ABCA1 19 broad.mit.edu 37 9 107571819 107571819 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:107571819G>A ENST00000374736.3 - 30 4596 c.4202C>T c.(4201-4203)aCc>aTc p.T1401I NM_005502.3 NP_005493.2 O95477 ABCA1_HUMAN ATP-binding cassette, sub-family A (ABC1), member 1 1401 Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 115 OV - Ovarian serous cystadenocarcinoma(323;0.023) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) GAGTTCCAGGGTTCCCGTGTC 0.483000 10 35 0 0 1 0 0 ZNF107 51427 broad.mit.edu 37 7 64168318 64168318 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:64168318C>T ENST00000395391.1 + 4 3011 c.1636C>T c.(1636-1638)Cat>Tat p.H546Y ZNF107_ENST00000344930.3_Missense_Mutation_p.H546Y|ZNF107_ENST00000423627.1_Missense_Mutation_p.H546Y Q9UII5 ZN107_HUMAN zinc finger protein 107 546 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1) 37 Lung NSC(55;0.00948)|all_lung(88;0.0249) TAAAATTATTCATACTGGAGA 0.348000 11 35 0 0 1 0 0 SSR3 6747 broad.mit.edu 37 3 156271470 156271470 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:156271470C>T ENST00000265044.2 - 2 328 c.234G>A c.(232-234)aaG>aaA p.K78K SSR3_ENST00000467789.1_Silent_p.K78K|SSR3_ENST00000476217.1_Silent_p.K78K|SSR3_ENST00000463503.1_Silent_p.K26K|SSR3_ENST00000496050.1_Silent_p.K26K NM_007107.3 NP_009038.1 Q9UNL2 SSRG_HUMAN signal sequence receptor, gamma (translocon-associated protein gamma) 78 cotranslational protein targeting to membrane integral to endoplasmic reticulum membrane|microsome|Sec61 translocon complex protein binding|signal sequence binding endometrium(1)|prostate(2) 3 LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465) ATTTCACATTCTTGTATGCAA 0.333000 10 37 0 0 1 0 0 MFHAS1 9258 broad.mit.edu 37 8 8750290 8750290 + Silent SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:8750290G>C ENST00000276282.6 - 1 865 c.279C>G c.(277-279)gtC>gtG p.V93V NM_004225.2 NP_004216.2 Q9Y4C4 MFHA1_HUMAN malignant fibrous histiocytoma amplified sequence 1 93 endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1) 21 Hepatocellular(245;0.217) COAD - Colon adenocarcinoma(149;0.124) TCCTGCGCAGGACCAGGACGC 0.721000 5 14 0 0 1 0 0 PPP2R3A 5523 broad.mit.edu 37 3 135720716 135720716 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:135720716G>C ENST00000264977.3 + 2 993 c.376G>C c.(376-378)Gaa>Caa p.E126Q PPP2R3A_ENST00000490467.1_Intron NM_001190447.1|NM_002718.4 NP_001177376.1|NP_002709.2 Q06190 P2R3A_HUMAN protein phosphatase 2, regulatory subunit B'', alpha 126 protein dephosphorylation protein phosphatase type 2A complex calcium ion binding|protein binding|protein phosphatase type 2A regulator activity breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 GAAAATAAAAGAATTTTCCTT 0.378000 5 27 0 0 1 0 0 OBSCN 84033 broad.mit.edu 37 1 228475825 228475825 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:228475825C>T ENST00000570156.2 + 42 11236 c.11162C>T c.(11161-11163)aCg>aTg p.T3721M OBSCN_ENST00000422127.1_Missense_Mutation_p.T3292M|OBSCN_ENST00000366707.4_Missense_Mutation_p.T411M|OBSCN_ENST00000284548.11_Missense_Mutation_p.T3292M|OBSCN_ENST00000359599.6_Missense_Mutation_p.T2139M|OBSCN_ENST00000366709.4_Missense_Mutation_p.T411M NM_001271223.2 NP_001258152.2 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF 2754 Ig-like 38. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 223 Prostate(94;0.0405) GCCACGGCCACGCTGCGGTGT 0.612000 51 112 0 0 1 0 0 EML1 2009 broad.mit.edu 37 14 100405533 100405533 + Splice_Site SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:100405533G>T ENST00000262233.6 + 21 2330 c.e21-1 EML1_ENST00000327921.9_Splice_Site|EML1_ENST00000334192.4_Splice_Site NM_004434.2 NP_004425.2 O00423 EMAL1_HUMAN echinoderm microtubule associated protein like 1 cytoplasm|microtubule|microtubule associated complex calcium ion binding|protein binding breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Melanoma(154;0.0879)|all_epithelial(191;0.216) CTTTGTTTTAGGAGTGTGGCC 0.572000 16 77 1.02788e-11 1.07941e-11 1 1 0 MAEA 10296 broad.mit.edu 37 4 1305911 1305911 + Missense_Mutation SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr4:1305911G>T ENST00000303400.4 + 2 277 c.214G>T c.(214-216)Gac>Tac p.D72Y MAEA_ENST00000510794.1_Missense_Mutation_p.D71Y|MAEA_ENST00000514708.1_Missense_Mutation_p.D72Y|MAEA_ENST00000264750.6_Missense_Mutation_p.D72Y|MAEA_ENST00000452175.2_Missense_Mutation_p.D61Y|MAEA_ENST00000505839.1_Missense_Mutation_p.D24Y|MAEA_ENST00000505177.2_Missense_Mutation_p.D72Y NM_001017405.1 NP_001017405.1 Q7L5Y9 MAEA_HUMAN macrophage erythroblast attacher 72 Extracellular and involved in cell to cell contact. cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle actin binding NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(23;0.0201) CAGCCTGCTGGACGGCGTGGT 0.632000 11 54 3.07112e-06 3.15668e-06 1 1 0 GPATCH2 55105 broad.mit.edu 37 1 217784238 217784238 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:217784238G>A ENST00000366935.3 - 4 1121 c.1011C>T c.(1009-1011)agC>agT p.S337S GPATCH2_ENST00000366934.3_Silent_p.S337S NM_018040.2 NP_060510.1 Q9NW75 GPTC2_HUMAN G patch domain containing 2 337 intracellular nucleic acid binding NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1) 35 OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872) GACCTCTTCTGCTTGGGTGTG 0.413000 14 41 0 0 1 0 0 OR52D1 390066 broad.mit.edu 37 11 5510634 5510634 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:5510634C>T ENST00000322641.5 + 1 720 c.698C>T c.(697-699)tCt>tTt p.S233F HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron NM_001005163.2 NP_001005163.1 Q9H346 O52D1_HUMAN olfactory receptor, family 52, subfamily D, member 1 233 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 22 Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675) Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) CATCTTCCATCTCATGATGCC 0.512000 35 161 0 0 1 0 0 PLD4 122618 broad.mit.edu 37 14 105397102 105397102 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:105397102C>T ENST00000540372.1 + 7 954 c.762C>T c.(760-762)atC>atT p.I254I PLD4_ENST00000392593.4_Silent_p.I247I Q96BZ4 PLD4_HUMAN phospholipase D family, member 4 247 lipid catabolic process integral to membrane NAPE-specific phospholipase D activity|phospholipase D activity central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1) 13 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116) Choline(DB00122) GCGCTGTCATCTATAACTGCA 0.617000 39 119 0 0 1 0 0 APOA1BP 128240 broad.mit.edu 37 1 156562243 156562243 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:156562243C>T ENST00000368235.3 + 3 421 c.378C>T c.(376-378)gtC>gtT p.V126V APOA1BP_ENST00000368234.3_Silent_p.V126V|APOA1BP_ENST00000368233.3_Silent_p.V126V|APOA1BP_ENST00000467374.1_3'UTR NM_144772.2 NP_658985.2 Q8NCW5 AIBP_HUMAN apolipoprotein A-I binding protein 126 YjeF N-terminal. extracellular region protein binding central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1) 9 all_hematologic(923;0.088)|Hepatocellular(266;0.158) ATGGTCTGGTCTGTGCTCGAC 0.582000 34 122 0 0 1 0 0 UPF2 26019 broad.mit.edu 37 10 12043687 12043687 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:12043687G>C ENST00000356352.2 - 5 2115 c.1642C>G c.(1642-1644)Ctt>Gtt p.L548V UPF2_ENST00000357604.5_Missense_Mutation_p.L548V|UPF2_ENST00000397053.2_Missense_Mutation_p.L548V Q9HAU5 RENT2_HUMAN UPF2 regulator of nonsense transcripts homolog (yeast) 548 mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay exon-exon junction complex|perinuclear region of cytoplasm identical protein binding|RNA binding p.L548I(1) breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2) 56 Renal(717;0.228) TGTTCATCAAGAAGTTTCTTT 0.333000 3 26 0 0 1 0 0 LONP2 83752 broad.mit.edu 37 16 48290643 48290643 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr16:48290643G>A ENST00000285737.4 + 3 684 c.591G>A c.(589-591)gaG>gaA p.E197E LONP2_ENST00000535754.1_Intron NM_031490.2 NP_113678.2 Q86WA8 LONP2_HUMAN lon peptidase 2, peroxisomal 197 Lon. misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing nucleoid|peroxisomal matrix ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 31 GCAACAAAGAGAAACTCCAGG 0.393000 15 55 0 0 1 0 0 DIDO1 11083 broad.mit.edu 37 20 61524224 61524224 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr20:61524224C>G ENST00000266070.4 - 13 3517 c.3192G>C c.(3190-3192)caG>caC p.Q1064H DIDO1_ENST00000395335.2_Missense_Mutation_p.Q1064H|DIDO1_ENST00000395343.1_Missense_Mutation_p.Q1064H|DIDO1_ENST00000395340.1_Missense_Mutation_p.Q1064H NM_033081.2 NP_149072.2 Q9BTC0 DIDO1_HUMAN death inducer-obliterator 1 1064 apoptosis|transcription, DNA-dependent cytoplasm|nucleus zinc ion binding NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1) 99 Breast(26;5.68e-08) TTGCCACACTCTGCATGTTAA 0.448000 17 64 0 0 1 0 0 ADCYAP1R1 117 broad.mit.edu 37 7 31126105 31126105 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:31126105C>T ENST00000304166.4 + 10 1066 c.777C>T c.(775-777)ttC>ttT p.F259F ADCYAP1R1_ENST00000409363.1_Silent_p.F238F|ADCYAP1R1_ENST00000396211.2_Silent_p.F259F|ADCYAP1R1_ENST00000409489.1_Silent_p.F259F NM_001118.4|NM_001199635.1|NM_001199636.1 NP_001109.2|NP_001186564.1|NP_001186565.1 P41586 PACR_HUMAN adenylate cyclase activating polypeptide 1 (pituitary) receptor type I 259 activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis integral to plasma membrane vasoactive intestinal polypeptide receptor activity endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1) 35 TGGAGACCTTCTTCCCTGAAA 0.532000 9 48 0 0 1 0 0 LINC00336 401253 broad.mit.edu 37 6 33561114 33561114 + RNA SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:33561114C>G ENST00000477984.1 - 0 1 NR_027908.1 GCGCTCGCATCTGAGAACTGC 0.692000 4 20 0 0 1 0 0 TM9SF2 9375 broad.mit.edu 37 13 100181787 100181787 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr13:100181787G>A ENST00000376387.4 + 4 590 c.400G>A c.(400-402)Gaa>Aaa p.E134K TM9SF2_ENST00000463709.1_3'UTR NM_004800.1 NP_004791.1 Q99805 TM9S2_HUMAN transmembrane 9 superfamily member 2 134 transport endosome membrane|integral to plasma membrane endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2) 17 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218) AGAGAAAGCTGAAGACAAACA 0.313000 22 31 0 0 1 0 0 SSR1 6745 broad.mit.edu 37 6 7303849 7303849 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:7303849C>T ENST00000244763.4 - 3 300 c.214G>A c.(214-216)Gat>Aat p.D72N SSR1_ENST00000488834.1_5'UTR|SSR1_ENST00000462112.1_Missense_Mutation_p.D72N|SSR1_ENST00000534851.1_Intron|SSR1_ENST00000489567.1_Missense_Mutation_p.D72N|SSR1_ENST00000397511.2_Missense_Mutation_p.D72N|SSR1_ENST00000479365.1_Missense_Mutation_p.D72N|SSR1_ENST00000474597.1_Missense_Mutation_p.D72N NM_003144.3 NP_003135.2 P43307 SSRA_HUMAN signal sequence receptor, alpha 72 cotranslational protein targeting to membrane|positive regulation of cell proliferation endoplasmic reticulum membrane|integral to membrane signal sequence binding NS(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(1) 9 Ovarian(93;0.0398) CCAGACACATCTTCTTCCTCT 0.333000 55 57 0 0 1 0 0 ASB11 140456 broad.mit.edu 37 X 15311338 15311338 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chrX:15311338C>G ENST00000537676.1 - 4 483 c.411G>C c.(409-411)caG>caC p.Q137H ASB11_ENST00000380470.3_Missense_Mutation_p.Q141H|ASB11_ENST00000344384.4_Missense_Mutation_p.Q137H|ASB11_ENST00000480796.1_Missense_Mutation_p.Q158H Q8WXH4 ASB11_HUMAN ankyrin repeat and SOCS box containing 11 158 intracellular signal transduction breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(1) 16 Hepatocellular(33;0.183) GCACCTCCAACTGGGCCTTGG 0.552000 58 65 0 0 1 0 0 CNR2 1269 broad.mit.edu 37 1 24201626 24201626 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:24201626G>A ENST00000536471.1 - 3 740 c.482C>T c.(481-483)tCa>tTa p.S161L CNR2_ENST00000374472.4_Missense_Mutation_p.S161L P34972 CNR2_HUMAN cannabinoid receptor 2 (macrophage) 161 behavior|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response dendrite|integral to plasma membrane|perikaryon cannabinoid receptor activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2) 26 Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146) Nabilone(DB00486) GACTAGTGCTGAGAGGACCCA 0.587000 23 64 0 0 1 0 0 UPF1 5976 broad.mit.edu 37 19 18965463 18965463 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:18965463G>A ENST00000262803.5 + 9 1482 c.1210G>A c.(1210-1212)Gag>Aag p.E404K UPF1_ENST00000599848.1_Missense_Mutation_p.E415K NM_002911.3 NP_002902.2 Q92900 RENT1_HUMAN UPF1 regulator of nonsense transcripts homolog (yeast) 415 Sufficient for interaction with RENT2. cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination chromatin|cytoplasmic mRNA processing body|exon-exon junction complex ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 TGCACCTGTGGAGGTGACTCA 0.547000 69 202 0 0 1 0 0 OPRD1 4985 broad.mit.edu 37 1 29189416 29189416 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:29189416C>T ENST00000234961.2 + 3 982 c.740C>T c.(739-741)tCg>tTg p.S247L NM_000911.3 NP_000902.3 P41143 OPRD_HUMAN opioid receptor, delta 1 247 immune response|protein import into nucleus, translocation integral to plasma membrane delta-opioid receptor activity|protein binding breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123) Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147) Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647) CGCCTGCTGTCGGGCTCCAAG 0.632000 14 34 0 0 1 0 0 OR4K2 390431 broad.mit.edu 37 14 20345153 20345153 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:20345153C>T ENST00000298642.2 + 1 763 c.727C>T c.(727-729)Cat>Tat p.H243Y NM_001005501.1 NP_001005501.1 Q8NGD2 OR4K2_HUMAN olfactory receptor, family 4, subfamily K, member 2 243 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2) 43 all_cancers(95;0.00108) Epithelial(56;9.96e-07)|all cancers(55;2.95e-06) GBM - Glioblastoma multiforme(265;0.00327) TTGTACAGCTCATTTCATTGT 0.378000 28 214 0 0 1 0 0 CUL1 8454 broad.mit.edu 37 7 148457547 148457547 + Nonsense_Mutation SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:148457547G>T ENST00000325222.4 + 7 1027 c.748G>T c.(748-750)Gaa>Taa p.E250* CUL1_ENST00000602748.1_Nonsense_Mutation_p.E250*|CUL1_ENST00000409469.1_Nonsense_Mutation_p.E250* NM_003592.2 NP_003583.2 Q13616 CUL1_HUMAN cullin 1 250 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process cytosol|nucleoplasm|SCF ubiquitin ligase complex ubiquitin protein ligase binding breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4) 40 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00291) AGAGAGTACTGAATTCTTGCA 0.348000 42 99 3.7052e-28 3.95953e-28 1 1 0 GGT7 2686 broad.mit.edu 37 20 33440073 33440073 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr20:33440073G>A ENST00000336431.5 - 12 1516 c.1472C>T c.(1471-1473)tCc>tTc p.S491F GGT7_ENST00000469018.1_5'UTR NM_178026.2 NP_821158.2 Q9UJ14 GGT7_HUMAN gamma-glutamyltransferase 7 491 glutathione biosynthetic process integral to membrane acyltransferase activity|gamma-glutamyltransferase activity NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2) 20 CTGGTTCAGGGAGCTGGGGGC 0.637000 18 46 0 0 1 0 0 TRAT1 50852 broad.mit.edu 37 3 108572556 108572556 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:108572556C>G ENST00000295756.6 + 6 623 c.393C>G c.(391-393)ttC>ttG p.F131L TRAT1_ENST00000426646.1_Missense_Mutation_p.F94L NM_016388.2 NP_057472.2 Q6PIZ9 TRAT1_HUMAN T cell receptor associated transmembrane adaptor 1 131 cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway integral to plasma membrane|T cell receptor complex phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3) 28 ATACTCATTTCTCAGACAAGG 0.463000 13 59 0 0 1 0 0 MAPK10 5602 broad.mit.edu 37 4 87023143 87023143 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr4:87023143C>T ENST00000395169.3 - 7 1074 c.354G>A c.(352-354)gtG>gtA p.V118V MAPK10_ENST00000395157.3_Silent_p.V11V|MAPK10_ENST00000395166.1_Silent_p.V118V|MAPK10_ENST00000395161.2_Silent_p.V156V|MAPK10_ENST00000449047.2_Silent_p.V11V|MAPK10_ENST00000395160.3_Silent_p.V11V|MAPK10_ENST00000361569.2_Silent_p.V156V|MAPK10_ENST00000513839.1_5'UTR|MAPK10_ENST00000359221.3_Silent_p.V156V NM_138980.2|NM_138982.2 NP_620446.1|NP_620448.1 P53779 MK10_HUMAN mitogen-activated protein kinase 10 156 Protein kinase. innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|JUN kinase activity|MAP kinase kinase activity|protein binding breast(1)|central_nervous_system(1)|stomach(1) 3 Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243) OV - Ovarian serous cystadenocarcinoma(123;0.002) CCATCTGAATCACTTGACATA 0.408000 31 133 0 0 1 0 0 LRRFIP2 9209 broad.mit.edu 37 3 37107346 37107346 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:37107346G>C ENST00000421307.1 - 24 2076 c.1654C>G c.(1654-1656)Cag>Gag p.Q552E MLH1_ENST00000536378.1_3'UTR|LRRFIP2_ENST00000396428.2_Missense_Mutation_p.Q334E|LRRFIP2_ENST00000421276.2_Missense_Mutation_p.Q255E|LRRFIP2_ENST00000354379.4_Missense_Mutation_p.Q231E|LRRFIP2_ENST00000336686.4_Missense_Mutation_p.Q552E|LRRFIP2_ENST00000440230.1_Missense_Mutation_p.Q255E NM_006309.2 NP_006300.1 Q9Y608 LRRF2_HUMAN leucine rich repeat (in FLII) interacting protein 2 552 Wnt receptor signaling pathway LRR domain binding p.0?(1) breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 22 GCAGCTTCCTGAGACACAACA 0.483000 27 84 0 0 1 0 0 SLC43A2 124935 broad.mit.edu 37 17 1478943 1478943 + Silent SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:1478943G>C ENST00000301335.5 - 14 1753 c.1665C>G c.(1663-1665)ctC>ctG p.L555L SLC43A2_ENST00000382147.4_Silent_p.L559L|SLC43A2_ENST00000412517.3_Silent_p.L418L|SLC43A2_ENST00000571650.1_Silent_p.L559L NM_001284498.1|NM_001284499.1 NP_001271427.1|NP_001271428.1 Q8N370 LAT4_HUMAN solute carrier family 43 (amino acid system L transporter), member 2 cellular nitrogen compound metabolic process|ion transport integral to membrane|plasma membrane endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1) 12 UCEC - Uterine corpus endometrioid carcinoma (25;0.0883) TTTTGAGGAAGAGTTTGTCAT 0.617000 8 33 0 0 1 0 0 ZNF253 56242 broad.mit.edu 37 19 20003061 20003061 + Silent SNP A A T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:20003061A>T ENST00000589717.1 + 4 1097 c.1005A>T c.(1003-1005)acA>acT p.T335T ZNF253_ENST00000355650.4_Silent_p.T259T NM_021047.2 NP_066385.2 O75346 ZN253_HUMAN zinc finger protein 253 335 Missing (in Ref. 1; AAC26844). negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 GAATTCATACAGGAGAGAAAC 0.383000 5 48 0 0 1 0 0 PRMT7 54496 broad.mit.edu 37 16 68386284 68386284 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr16:68386284C>T ENST00000339507.5 + 15 2377 c.1547C>T c.(1546-1548)tCg>tTg p.S516L PRMT7_ENST00000441236.1_Missense_Mutation_p.S466L|PRMT7_ENST00000348497.4_Missense_Mutation_p.S368L|PRMT7_ENST00000449359.3_Missense_Mutation_p.S466L Q9NVM4 ANM7_HUMAN protein arginine methyltransferase 7 516 cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent cytosol|nucleus [myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|urinary_tract(1) 20 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629) CAGGCAGCCTCGCTGCACGCT 0.617000 27 81 0 0 1 0 0 C9orf50 375759 broad.mit.edu 37 9 132375791 132375791 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:132375791C>G ENST00000372478.4 - 5 1167 c.966G>C c.(964-966)gaG>gaC p.E322D NTMT1_ENST00000372486.1_Intron NM_199350.3 NP_955382.3 Q5SZB4 CI050_HUMAN chromosome 9 open reading frame 50 322 central_nervous_system(1)|endometrium(4)|large_intestine(2)|ovary(1)|skin(1)|urinary_tract(1) 10 Ovarian(14;0.00556) TGGGCAAACTCTCCAGCCGTT 0.632000 32 84 0 0 1 0 0 FERMT3 83706 broad.mit.edu 37 11 63978565 63978565 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:63978565G>A ENST00000279227.5 + 4 531 c.436G>A c.(436-438)Gag>Aag p.E146K FERMT3_ENST00000345728.5_Missense_Mutation_p.E146K NM_178443.2 NP_848537.1 Q86UX7 URP2_HUMAN fermitin family member 3 146 integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin cell junction|cell projection|podosome integrin binding breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 18 CCGGGCTCCTGagaagaagga 0.617000 5 12 0 0 1 0 0 CD247 919 broad.mit.edu 37 1 167409970 167409970 + Silent SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:167409970G>T ENST00000392122.3 - 2 237 c.93C>A c.(91-93)ctC>ctA p.L31L CD247_ENST00000362089.5_Silent_p.L31L|CD247_ENST00000483825.1_5'UTR NM_000734.3|NM_198053.2 NP_000725.1|NP_932170.1 P20963 CD3Z_HUMAN CD247 molecule 31 interspecies interaction between organisms|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction cytoplasm|integral to membrane protein homodimerization activity|transmembrane receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1) 6 LUSC - Lung squamous cell carcinoma(543;0.236) GCAGGTAGCAGAGTTTGGGAT 0.547000 8 31 1 1 1 1 0 AMOTL2 51421 broad.mit.edu 37 3 134080563 134080563 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:134080563C>T ENST00000514516.1 - 6 1718 c.1540G>A c.(1540-1542)Gag>Aag p.E514K AMOTL2_ENST00000249883.5_Missense_Mutation_p.E456K|AMOTL2_ENST00000422605.2_Missense_Mutation_p.E456K|AMOTL2_ENST00000513145.1_Missense_Mutation_p.E456K NM_001278683.1 NP_001265612.1 Q9Y2J4 AMOL2_HUMAN angiomotin like 2 456 endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 19 TCCAGCAGCTCGGCACGCCGC 0.652000 13 33 0 0 1 0 0 LRRC30 339291 broad.mit.edu 37 18 7231348 7231348 + Missense_Mutation SNP C C A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr18:7231348C>A ENST00000383467.2 + 1 226 c.212C>A c.(211-213)tCc>tAc p.S71Y NM_001105581.1 NP_001099051.1 A6NM36 LRC30_HUMAN leucine rich repeat containing 30 71 central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3) 31 TGGGGCTTGTCCGAGGTCCAG 0.607000 23 75 1.9806e-07 2.05319e-07 1 1 0 PGR 5241 broad.mit.edu 37 11 100998975 100998975 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:100998975G>A ENST00000325455.5 - 1 2280 c.827C>T c.(826-828)tCa>tTa p.S276L PGR_ENST00000263463.5_Missense_Mutation_p.S276L|PGR_ENST00000534013.1_Intron NM_000926.4|NM_001202474.1|NM_001271162.1 NP_000917.3|NP_001189403.1|NP_001258091.1 P06401 PRGR_HUMAN progesterone receptor 276 Modulating, Pro-Rich. cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 36 Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014) LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164) Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396) CCTGGGCGCTGAGAAGCGGGA 0.731000 7 18 0 0 1 0 0 ABCC10 89845 broad.mit.edu 37 6 43415550 43415550 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:43415550C>T ENST00000244533.3 + 16 4109 c.3750C>T c.(3748-3750)atC>atT p.I1250I ABCC10_ENST00000372530.4_Silent_p.I1278I NM_033450.2 NP_258261.2 Q5T3U5 MRP7_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 10 1278 ABC transporter 2. integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_lung(25;0.00536) Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804) AGTTGGGCATCGTGGGCCGCA 0.642000 70 211 0 0 1 0 0 DDX10 1662 broad.mit.edu 37 11 108547945 108547945 + Nonsense_Mutation SNP C C A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:108547945C>A ENST00000526794.1 + 4 544 c.512C>A c.(511-513)tCa>tAa p.S171* DDX10_ENST00000322536.3_Nonsense_Mutation_p.S171* Q13206 DDX10_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 171 Helicase ATP-binding. ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2) 27 all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729) BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133) CATGACTTCTCAGCTGGTCTC 0.468000 T NUP98 AML* 29 111 1.06801e-11 1.12016e-11 1 1 0 TFCP2L1 29842 broad.mit.edu 37 2 122004422 122004422 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:122004422G>A ENST00000263707.5 - 6 726 c.629C>T c.(628-630)tCa>tTa p.S210L NM_014553.2 NP_055368.1 Q9NZI6 TF2L1_HUMAN transcription factor CP2-like 1 210 female pregnancy|steroid biosynthetic process mitochondrion|nucleolus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1) 22 Renal(3;0.01) GCAGCTGGCTGAGTGCAGGTG 0.602000 31 137 0 0 1 0 0 CNTLN 54875 broad.mit.edu 37 9 17464510 17464510 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:17464510G>A ENST00000380647.3 + 21 3504 c.3420G>A c.(3418-3420)gaG>gaA p.E1140E CNTLN_ENST00000262360.5_Silent_p.E1140E|CNTLN_ENST00000425824.1_Silent_p.E1140E Q9NXG0 CNTLN_HUMAN centlein, centrosomal protein 1140 centriole|membrane two-component sensor activity breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 GBM - Glioblastoma multiforme(50;6.14e-10) CTCGAATGGAGAGGGATATAA 0.303000 16 34 0 0 1 0 0 ATM 472 broad.mit.edu 37 11 108192065 108192065 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:108192065G>C ENST00000278616.4 + 45 6875 c.6490G>C c.(6490-6492)Gag>Cag p.E2164Q ATM_ENST00000452508.2_Missense_Mutation_p.E2164Q|C11orf65_ENST00000525729.1_Intron NM_000051.3 NP_000042 Q13315 ATM_HUMAN ataxia telangiectasia mutated 2164 FAT. E -> K (in T-prolymphocytic leukemia). cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence cytoplasmic membrane-bounded vesicle|nucleoplasm 1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding p.E2164K(3) NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 448 all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072) Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147) GCGCAGCCTTGAGTCTGTGTA 0.413000 """D, Mis, N, F, S""" T-PLL """leukemia, lymphoma, medulloblastoma, glioma""" Genes defective in diseases associated with sensitivity to DNA damaging agents Ataxia Telangiectasia TSP Lung(14;0.12) 29 119 0 0 1 0 0 ZNF543 125919 broad.mit.edu 37 19 57840340 57840340 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:57840340G>A ENST00000321545.4 + 4 1855 c.1510G>A c.(1510-1512)Gag>Aag p.E504K NM_213598.3 NP_998763.2 Q08ER8 ZN543_HUMAN zinc finger protein 543 504 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 28 Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257) TCACACTGGAGAGAAACCCTA 0.517000 24 83 0 0 1 0 0 SCARA5 286133 broad.mit.edu 37 8 27729502 27729502 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:27729502C>T ENST00000354914.3 - 9 1922 c.1437G>A c.(1435-1437)gtG>gtA p.V479V SCARA5_ENST00000380385.2_Silent_p.V254V NM_173833.5 NP_776194.2 Q6ZMJ2 SCAR5_HUMAN scavenger receptor class A, member 5 (putative) 479 SRCR. cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization integral to plasma membrane ferritin receptor activity|scavenger receptor activity central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3) 18 Ovarian(32;0.0218) UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228) CACAGTTTGTCACCCCCCATT 0.577000 23 78 0 0 1 0 0 IQCC 55721 broad.mit.edu 37 1 32673000 32673000 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:32673000G>C ENST00000537469.1 + 5 1005 c.958G>C c.(958-960)Gag>Cag p.E320Q IQCC_ENST00000291358.6_Missense_Mutation_p.E240Q NM_001160042.1 NP_001153514.1 Q4KMZ1 IQCC_HUMAN IQ motif containing C 240 endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1) 15 Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186) GACCACTGGAGAGCTAGAACA 0.547000 22 49 0 0 1 0 0 CKAP5 9793 broad.mit.edu 37 11 46801788 46801788 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:46801788C>T ENST00000529230.1 - 20 2435 c.2389G>A c.(2389-2391)Gag>Aag p.E797K CKAP5_ENST00000415402.1_Missense_Mutation_p.E797K|CKAP5_ENST00000354558.3_Missense_Mutation_p.E797K|CKAP5_ENST00000312055.5_Missense_Mutation_p.E797K Q14008 CKAP5_HUMAN cytoskeleton associated protein 5 797 cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization centrosome|cytosol protein binding breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 43 GCAGGCTTCTCATCCTCAAAG 0.443000 12 55 0 0 1 0 0 NPHS2 7827 broad.mit.edu 37 1 179526363 179526363 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:179526363G>A ENST00000367615.4 - 5 605 c.537C>T c.(535-537)atC>atT p.I179I NPHS2_ENST00000367616.4_Intron NM_014625.2 NP_055440.1 Q9NP85 PODO_HUMAN nephrosis 2, idiopathic, steroid-resistant (podocin) 179 excretion integral to plasma membrane protein binding NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 20 CTTTGGTCACGATCTAGGCAG 0.413000 12 39 0 0 1 0 0 AGAP3 116988 broad.mit.edu 37 7 150835257 150835257 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:150835257C>T ENST00000397238.2 + 12 1523 c.1523C>T c.(1522-1524)tCc>tTc p.S508F AGAP3_ENST00000463381.1_Intron NM_031946.4 NP_114152.3 Q96P47 AGAP3_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 472 PH. regulation of ARF GTPase activity|small GTPase mediated signal transduction cytoplasm|membrane ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1) 28 AGCAGCGCATCCCTGCACTCT 0.682000 7 27 0 0 1 0 0 DAG1 1605 broad.mit.edu 37 3 49569108 49569108 + Silent SNP T T C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:49569108T>C ENST00000545947.1 + 6 1886 c.1164T>C c.(1162-1164)acT>acC p.T388T DAG1_ENST00000308775.2_Silent_p.T388T|DAG1_ENST00000538711.1_Silent_p.T388T|DAG1_ENST00000515359.2_Silent_p.T388T|DAG1_ENST00000541308.1_Silent_p.T388T|DAG1_ENST00000539901.1_Silent_p.T388T NM_001177634.2 NP_001171105 Q14118 DAG1_HUMAN dystroglycan 1 (dystrophin-associated glycoprotein 1) 388 Mucin-like domain.|Required for laminin recognition.|Thr-rich. cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1) 23 BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) TCCAGCCTACTCGGGTGTCAG 0.587000 59 152 0 0 1 0 0 DOPEY2 9980 broad.mit.edu 37 21 37618604 37618604 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr21:37618604G>A ENST00000399151.3 + 19 4411 c.4326G>A c.(4324-4326)ctG>ctA p.L1442L NM_005128.2 NP_005119.2 Q9Y3R5 DOP2_HUMAN dopey family member 2 1442 endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport Golgi membrane autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 TTGAGCTGCTGAAGCTGCTGC 0.612000 16 43 0 0 1 0 0 PRKRIR 5612 broad.mit.edu 37 11 76063335 76063335 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:76063335G>C ENST00000260045.3 - 5 964 c.859C>G c.(859-861)Cat>Gat p.H287D NM_004705.2 NP_004696.2 O43422 P52K_HUMAN protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) 287 negative regulation of cell proliferation|response to stress|signal transduction DNA binding|metal ion binding|protein dimerization activity cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 25 CTTAGGTTATGAGATTCATCA 0.423000 7 34 0 0 1 0 0 TANGO6 79613 broad.mit.edu 37 16 68961944 68961944 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr16:68961944G>C ENST00000261778.1 + 13 2613 c.2601G>C c.(2599-2601)caG>caC p.Q867H RP11-521L9.1_ENST00000562790.1_lincRNA NM_024562.1 NP_078838.1 transport and golgi organization 6 homolog (Drosophila) GGATAGAGCAGAGAGAAGCAA 0.488000 5 9 0 0 1 0 0 SEMA6C 10500 broad.mit.edu 37 1 151107335 151107335 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:151107335G>C ENST00000341697.3 - 16 3288 c.1597C>G c.(1597-1599)Cag>Gag p.Q533E Q9H3T2 SEM6C_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C 533 integral to membrane receptor activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 28 Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185) UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211) TATGGGTCCTGAGAAGCCAAA 0.522000 18 65 0 0 1 0 0 ZAK 51776 broad.mit.edu 37 2 174131031 174131031 + Silent SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:174131031C>G ENST00000375213.3 + 20 2034 c.1956C>G c.(1954-1956)ctC>ctG p.L652L MLK7-AS1_ENST00000423106.2_RNA|MLTK_ENST00000409176.2_Silent_p.L652L|MLK7-AS1_ENST00000422703.1_RNA NM_016653.2 NP_057737.2 CCCTACATCTCAACTCTAGGG 0.468000 17 74 0 0 1 0 0 PAN2 9924 broad.mit.edu 37 12 56722102 56722102 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:56722102C>T ENST00000425394.2 - 4 869 c.493G>A c.(493-495)Gac>Aac p.D165N PAN2_ENST00000440411.3_Missense_Mutation_p.D165N|PAN2_ENST00000548043.1_Missense_Mutation_p.D165N|PAN2_ENST00000257931.5_Missense_Mutation_p.D165N NM_001127460.2 NP_001120932 Q504Q3 PAN2_HUMAN PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) 165 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process cytosol|nucleus nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 41 GTGCTGCTGTCAGTCAGTAGG 0.512000 50 130 0 0 1 0 0 BORA 79866 broad.mit.edu 37 13 73321094 73321094 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr13:73321094G>C ENST00000390667.5 + 10 1424 c.1327G>C c.(1327-1329)Gat>Cat p.D443H BORA_ENST00000377815.3_Missense_Mutation_p.D373H NM_024808.2 NP_079084.2 Q6PGQ7 BORA_HUMAN bora, aurora kinase A activator 443 cell division|mitosis|regulation of mitosis|regulation of mitotic spindle organization|regulation of protein localization protein kinase binding AGAGATAGCAGATGAGACCAC 0.413000 24 87 0 0 1 0 0 LRR1 122769 broad.mit.edu 37 14 50074583 50074583 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:50074583G>A ENST00000298288.6 + 3 1072 c.748G>A c.(748-750)Gaa>Aaa p.E250K LRR1_ENST00000318317.4_Intron NM_152329.3 NP_689542.2 Q96L50 LLR1_HUMAN leucine rich repeat protein 1 250 kidney(2)|large_intestine(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 CCAGCTCCAGGAACTTAAGAA 0.403000 11 47 0 0 1 0 0 VPS13D 55187 broad.mit.edu 37 1 12516150 12516150 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:12516150G>A ENST00000358136.3 + 66 12560 c.12430G>A c.(12430-12432)Gaa>Aaa p.E4144K VPS13D_ENST00000496628.1_Intron|VPS13D_ENST00000356315.4_Missense_Mutation_p.E4119K|VPS13D_ENST00000543766.1_Missense_Mutation_p.E142K NM_015378.2 NP_056193.2 Q5THJ4 VP13D_HUMAN vacuolar protein sorting 13 homolog D (S. cerevisiae) 4143 protein localization NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4) 130 Ovarian(185;0.249) Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209) CACAAGTGGTGAACACCTTGT 0.527000 18 77 0 0 1 0 0 MOV10 4343 broad.mit.edu 37 1 113241408 113241408 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:113241408G>C ENST00000369644.1 + 18 3441 c.2412G>C c.(2410-2412)ttG>ttC p.L804F MOV10_ENST00000413052.2_Missense_Mutation_p.L860F|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000357443.2_Missense_Mutation_p.L860F|MOV10_ENST00000369645.1_Missense_Mutation_p.L860F Q9HCE1 MOV10_HUMAN Mov10, Moloney leukemia virus 10, homolog (mouse) 860 mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body ATP binding|helicase activity|protein binding|RNA binding breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3) 38 Lung SC(450;0.246) all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114) OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24) TCAAGGACTTGAAGGTGACAT 0.557000 52 166 0 0 1 0 0 DOPEY2 9980 broad.mit.edu 37 21 37617864 37617864 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr21:37617864G>A ENST00000399151.3 + 19 3671 c.3586G>A c.(3586-3588)Gag>Aag p.E1196K NM_005128.2 NP_005119.2 Q9Y3R5 DOP2_HUMAN dopey family member 2 1196 endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport Golgi membrane autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 CTCCAGCGACGAGGAGGCGGA 0.617000 22 71 0 0 1 0 0 CACNA1A 773 broad.mit.edu 37 19 13476255 13476255 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:13476255C>T ENST00000360228.5 - 5 659 c.660G>A c.(658-660)atG>atA p.M220I CACNA1A_ENST00000573710.2_Missense_Mutation_p.M220I NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2 NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2 O00555 CAC1A_HUMAN calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 220 cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion cytoplasm|nucleus syntaxin binding breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1) 42 OV - Ovarian serous cystadenocarcinoma(19;5.07e-21) Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230) TCATCGCCTTCATGATCGACT 0.478000 16 50 0 0 1 0 0 ANO5 203859 broad.mit.edu 37 11 22297645 22297645 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:22297645G>C ENST00000324559.8 + 21 2737 c.2420G>C c.(2419-2421)aGa>aCa p.R807T ANO5_ENST00000532043.1_3'UTR NM_001142649.1|NM_213599.2 NP_001136121.1|NP_998764.1 Q75V66 ANO5_HUMAN anoctamin 5 807 chloride channel complex|endoplasmic reticulum membrane chloride channel activity breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 TTCAGGTACAGAGATTACAGA 0.323000 11 29 0 0 1 0 0 HNRNPUL2 221092 broad.mit.edu 37 11 62483065 62483065 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:62483065G>A ENST00000301785.5 - 13 2262 c.2070C>T c.(2068-2070)ttC>ttT p.F690F HNRNPUL2-BSCL2_ENST00000403734.2_Silent_p.F690F NM_001079559.2 NP_001073027.1 Q1KMD3 HNRL2_HUMAN heterogeneous nuclear ribonucleoprotein U-like 2 690 Tyr-rich. cell killing nucleus ATP binding|nucleic acid binding NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 ATCGATCATAGAAATTACGGT 0.423000 27 95 0 0 1 0 0 KNDC1 85442 broad.mit.edu 37 10 134999708 134999708 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:134999708G>A ENST00000304613.3 + 6 877 c.856G>A c.(856-858)Gag>Aag p.E286K KNDC1_ENST00000368572.2_Missense_Mutation_p.E286K|KNDC1_ENST00000368571.2_Missense_Mutation_p.E221K Q76NI1 VKIND_HUMAN kinase non-catalytic C-lobe domain (KIND) containing 1 286 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 60 all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05) CCTGGATGCCGAGCGCACCCT 0.701000 5 17 0 0 1 0 0 LINGO3 645191 broad.mit.edu 37 19 2291284 2291284 + Missense_Mutation SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:2291284G>T ENST00000585527.1 - 1 739 c.492C>A c.(490-492)ttC>ttA p.F164L LINGO3_ENST00000404279.1_Missense_Mutation_p.F164L P0C6S8 LIGO3_HUMAN leucine rich repeat and Ig domain containing 3 164 integral to membrane lung(1)|urinary_tract(1) 2 GGCGCGAGACGAATACCAGGT 0.657000 9 54 0.000274275 0.000277878 1 1 0 PEX6 5190 broad.mit.edu 37 6 42936706 42936706 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:42936706C>T ENST00000304611.8 - 6 1454 c.1385G>A c.(1384-1386)gGa>gAa p.G462E PEX6_ENST00000244546.4_Missense_Mutation_p.G462E NM_000287.3 NP_000278.3 Q13608 PEX6_HUMAN peroxisomal biogenesis factor 6 462 protein import into peroxisome matrix, translocation|protein stabilization cytosol|peroxisomal membrane ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3) 15 all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562) ACTGCTAGTTCCTGTCAGCAG 0.537000 23 73 0 0 1 0 0 PPWD1 23398 broad.mit.edu 37 5 64863366 64863366 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:64863366G>C ENST00000261308.5 + 2 295 c.223G>C c.(223-225)Gat>Cat p.D75H PPWD1_ENST00000538977.1_Intron|PPWD1_ENST00000535264.1_Missense_Mutation_p.D45H NM_015342.3 NP_056157.1 Q96BP3 PPWD1_HUMAN peptidylprolyl isomerase domain and WD repeat containing 1 75 protein folding catalytic step 2 spliceosome peptidyl-prolyl cis-trans isomerase activity breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1) 19 Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186) Lung(70;0.00451) AGTCTATCTTGATAATCTCCC 0.313000 11 36 0 0 1 0 0 RARB 5915 broad.mit.edu 37 3 25611305 25611305 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:25611305G>A ENST00000330688.4 + 4 926 c.505G>A c.(505-507)Gag>Aag p.E169K RARB_ENST00000458646.1_Missense_Mutation_p.E57K|RARB_ENST00000437042.2_Missense_Mutation_p.E57K|RARB_ENST00000404969.1_Missense_Mutation_p.E176K|RARB_ENST00000462272.1_3'UTR NM_000965.3 NP_000956.2 P10826 RARB_HUMAN retinoic acid receptor, beta 176 Hinge. embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 28 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799) AGAATGCACAGAGAGCTATGA 0.488000 29 89 0 0 1 0 0 CXXC1 30827 broad.mit.edu 37 18 47810410 47810410 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr18:47810410C>T ENST00000285106.6 - 10 1981 c.1267G>A c.(1267-1269)Gaa>Aaa p.E423K CXXC1_ENST00000412036.2_Missense_Mutation_p.E427K|CXXC1_ENST00000589940.1_Missense_Mutation_p.E423K NM_001101654.1|NM_014593.3 NP_001095124.1|NP_055408.2 Q9P0U4 CXXC1_HUMAN CXXC finger protein 1 423 histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear speck|Set1C/COMPASS complex protein binding|unmethylated CpG binding|zinc ion binding autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 24 CCGTGCTCTTCAGCAATGCAA 0.587000 43 114 0 0 1 0 0 INADL 10207 broad.mit.edu 37 1 62483543 62483543 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:62483543C>T ENST00000371158.2 + 29 3997 c.3883C>T c.(3883-3885)Ctg>Ttg p.L1295L INADL_ENST00000545929.1_Intron|INADL_ENST00000543708.1_Silent_p.L79L|INADL_ENST00000316485.6_Silent_p.L1295L NM_176877.2 NP_795352 Q8NI35 INADL_HUMAN InaD-like (Drosophila) 1295 PDZ 7. intracellular signal transduction|tight junction assembly apical plasma membrane|perinuclear region of cytoplasm|tight junction protein binding breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3) 103 CAATCAGATTCTGTATGGAAG 0.338000 25 53 0 0 1 0 0 GRIN2D 2906 broad.mit.edu 37 19 48908550 48908550 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:48908550C>G ENST00000263269.3 + 3 1113 c.1025C>G c.(1024-1026)cCt>cGt p.P342R NM_000836.2 NP_000827.2 O15399 NMDE4_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 2D 342 cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|protein binding autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1) 37 all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203) all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161) L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173) GGTTTCCTTCCTGAGCTCGGC 0.682000 6 17 0 0 1 0 0 IGSF21 84966 broad.mit.edu 37 1 18661423 18661423 + Nonsense_Mutation SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:18661423G>T ENST00000251296.1 + 4 726 c.343G>T c.(343-345)Gag>Tag p.E115* NM_032880.4 NP_116269.3 Q96ID5 IGS21_HUMAN immunoglobin superfamily, member 21 115 Ig-like 1. extracellular region endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 40 Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439) UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157) TGGTCCCTATGAGTGCCATGT 0.622000 22 52 1.40151e-16 1.48369e-16 1 1 0 SEMA4A 64218 broad.mit.edu 37 1 156146608 156146608 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:156146608C>T ENST00000368285.3 + 15 2373 c.2106C>T c.(2104-2106)ctC>ctT p.L702L SEMA4A_ENST00000368284.1_Silent_p.L570L|SEMA4A_ENST00000355014.2_Silent_p.L702L|SEMA4A_ENST00000368286.2_Silent_p.L570L|SEMA4A_ENST00000368282.1_Silent_p.L702L NM_001193300.1|NM_022367.3 NP_001180229.1|NP_071762.2 Q9H3S1 SEM4A_HUMAN sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A 702 axon guidance integral to membrane|plasma membrane receptor activity breast(1)|ovary(2)|skin(2) 5 Hepatocellular(266;0.158) TCATCATCCTCGTGGCCTCCC 0.632000 19 87 0 0 1 0 0 MYBPC3 4607 broad.mit.edu 37 11 47372904 47372904 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:47372904C>T ENST00000545968.1 - 2 232 c.178G>A c.(178-180)Gag>Aag p.E60K MYBPC3_ENST00000256993.4_Missense_Mutation_p.E60K|MYBPC3_ENST00000399249.2_Missense_Mutation_p.E60K NM_000256.3 NP_000247.2 Q14896 MYPC3_HUMAN myosin binding protein C, cardiac 60 cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis C zone|cytosol|striated muscle myosin thick filament actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2) 42 Lung(87;0.176) CGTGTGCCCTCTGTGGCCAGG 0.632000 3 21 0 0 1 0 0 MASTL 84930 broad.mit.edu 37 10 27458964 27458964 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:27458964G>A ENST00000375946.4 + 8 1679 c.1076G>A c.(1075-1077)gGt>gAt p.G359D MASTL_ENST00000477034.1_3'UTR|MASTL_ENST00000375940.4_Missense_Mutation_p.G359D|MASTL_ENST00000342386.6_Missense_Mutation_p.G359D NM_001172303.1|NM_032844.3 NP_001165774.1|NP_116233.2 Q96GX5 GWL_HUMAN microtubule associated serine/threonine kinase-like 359 Protein kinase. cell division|G2/M transition of mitotic cell cycle|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus centrosome|cleavage furrow|nucleus ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 GAGACGAAAGGTTTCAATAAA 0.433000 18 73 0 0 1 0 0 CACNA1S 779 broad.mit.edu 37 1 201017798 201017798 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:201017798C>T ENST00000362061.3 - 36 4579 c.4353G>A c.(4351-4353)atG>atA p.M1451I CACNA1S_ENST00000367338.3_Missense_Mutation_p.M1432I NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 1451 axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) GGGGCATGTTCATGCCCACCA 0.617000 10 34 0 0 1 0 0 RFC1 5981 broad.mit.edu 37 4 39318616 39318616 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr4:39318616C>G ENST00000381897.1 - 10 1255 c.1122G>C c.(1120-1122)aaG>aaC p.K374N RFC1_ENST00000349703.2_Missense_Mutation_p.K374N NM_001204747.1|NM_002913.4 NP_001191676.1|NP_002904.3 P35251 RFC1_HUMAN replication factor C (activator 1) 1, 145kDa 374 DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair DNA replication factor C complex|nucleoplasm ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1) 16 TAGTGCGTTTCTTTTCAGAAT 0.378000 15 31 0 0 1 0 0 ACAN 176 broad.mit.edu 37 15 89417171 89417171 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr15:89417171G>C ENST00000439576.2 + 17 7806 c.7432G>C c.(7432-7434)Gag>Cag p.E2478Q ACAN_ENST00000561243.1_Missense_Mutation_p.E2478Q|ACAN_ENST00000559004.1_Missense_Mutation_p.E2440Q|ACAN_ENST00000352105.7_Intron NM_013227.3 NP_037359.3 E7EX88 E7EX88_HUMAN aggrecan 2478 cell adhesion hyaluronic acid binding|sugar binding NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 93 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) CCAGTGCACAGAGGGGTTTGT 0.642000 8 39 0 0 1 0 0 MED12L 116931 broad.mit.edu 37 3 150840608 150840608 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:150840608G>A ENST00000474524.1 + 3 281 c.243G>A c.(241-243)ctG>ctA p.L81L MED12L_ENST00000273432.4_Silent_p.L81L|MED12L_ENST00000309237.4_Silent_p.L81L|MED12L_ENST00000422248.2_Silent_p.L81L NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 81 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 128 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) CTGAGAAACTGAAGCTTAACA 0.378000 4 28 0 0 1 0 0 CHN2 1124 broad.mit.edu 37 7 29440222 29440222 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:29440222G>C ENST00000222792.6 + 6 884 c.354G>C c.(352-354)aaG>aaC p.K118N CHN2_ENST00000495789.2_Missense_Mutation_p.K131N|CHN2_ENST00000435288.2_Intron|CHN2_ENST00000539389.1_Intron|CHN2_ENST00000539406.1_Missense_Mutation_p.K193N|CHN2_ENST00000546235.1_Missense_Mutation_p.K103N NM_004067.2 NP_004058.1 P52757 CHIO_HUMAN chimerin 2 118 SH2. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|membrane GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2) 23 TGGGTGAGAAGAGGTTTGAGT 0.448000 24 65 0 0 1 0 0 BAI3 577 broad.mit.edu 37 6 69653779 69653779 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:69653779G>C ENST00000370598.1 + 6 1909 c.1088G>C c.(1087-1089)cGa>cCa p.R363P NM_001704.2 NP_001695 O60242 BAI3_HUMAN brain-specific angiogenesis inhibitor 3 363 TSP type-1 2. negative regulation of angiogenesis|neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 210 all_lung(197;0.212) ACATGTGGTCGAGGCCAAAGA 0.438000 22 68 0 0 1 0 0 C10orf88 80007 broad.mit.edu 37 10 124697599 124697599 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:124697599G>A ENST00000481909.1 - 5 949 c.725C>T c.(724-726)tCc>tTc p.S242F C10orf88_ENST00000368891.5_5'UTR NM_024942.3 NP_079218.2 Q9H8K7 CJ088_HUMAN chromosome 10 open reading frame 88 242 breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1) 18 all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205) Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735) GGTAGATGAGGATTGTAGTCC 0.403000 32 102 0 0 1 0 0 CTTNBP2 83992 broad.mit.edu 37 7 117431347 117431347 + Nonsense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:117431347G>A ENST00000160373.3 - 4 1994 c.1903C>T c.(1903-1905)Cag>Tag p.Q635* NM_033427.2 NP_219499.1 Q8WZ74 CTTB2_HUMAN cortactin binding protein 2 635 breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 83 Lung NSC(10;0.0018)|all_lung(10;0.002) LUSC - Lung squamous cell carcinoma(290;0.133) GCACCCACCTGAGACGTGGCC 0.552000 15 55 0 0 1 0 0 MYH6 4624 broad.mit.edu 37 14 23865621 23865621 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:23865621G>A ENST00000405093.3 - 20 2371 c.2301C>T c.(2299-2301)ttC>ttT p.F767F MYH6_ENST00000356287.3_Silent_p.F767F NM_002471.3 NP_002462.2 P13533 MYH6_HUMAN myosin, heavy chain 6, cardiac muscle, alpha 767 Actin-binding.|Myosin head-like. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) GCCCTGCCTTGAAGAACACCT 0.637000 22 50 0 0 1 0 0 ZNF750 79755 broad.mit.edu 37 17 80788419 80788419 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:80788419C>G ENST00000269394.3 - 3 2604 c.1771G>C c.(1771-1773)Gag>Cag p.E591Q TBCD_ENST00000539345.2_Intron|ZNF750_ENST00000572562.1_Missense_Mutation_p.E192Q|TBCD_ENST00000355528.4_Intron|TBCD_ENST00000397466.2_Intron NM_024702.2 NP_078978.2 Q32MQ0 ZN750_HUMAN zinc finger protein 750 591 intracellular zinc ion binding NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 31 Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0514)|all_epithelial(8;0.0748) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149) GGCCCATCCTCAGAACCTTCT 0.677000 24 89 0 0 1 0 0 ASTN1 460 broad.mit.edu 37 1 176998854 176998854 + Nonsense_Mutation SNP C C A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:176998854C>A ENST00000367654.3 - 5 1247 c.1036G>T c.(1036-1038)Gaa>Taa p.E346* ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Nonsense_Mutation_p.E346*|ASTN1_ENST00000367657.3_Nonsense_Mutation_p.E346*|ASTN1_ENST00000361833.2_Nonsense_Mutation_p.E346* NM_004319.1 NP_004310.1 O14525 ASTN1_HUMAN astrotactin 1 cell migration|neuron cell-cell adhesion integral to membrane NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3) 153 GAATCCCCTTCAGGGTTCAAG 0.493000 11 19 0.00829132 0.00836526 1 1 0 KRT24 192666 broad.mit.edu 37 17 38859916 38859916 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:38859916G>A ENST00000264651.2 - 1 86 c.30C>T c.(28-30)tcC>tcT p.S10S NM_019016.2 NP_061889.2 Q2M2I5 K1C24_HUMAN keratin 24 10 Head. cytoplasm|intermediate filament structural molecule activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Breast(137;0.00526) CTCCAGCCCTGGAGGAGGAGG 0.607000 15 49 0 0 1 0 0 URB2 9816 broad.mit.edu 37 1 229779297 229779297 + Nonsense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:229779297C>T ENST00000258243.2 + 5 3788 c.3652C>T c.(3652-3654)Cag>Tag p.Q1218* NM_014777.2 NP_055592.2 Q14146 URB2_HUMAN URB2 ribosome biogenesis 2 homolog (S. cerevisiae) 1218 nucleolus breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6) 73 AATTCCTGTTCAGGTCACTCA 0.448000 19 72 0 0 1 0 0 INTS7 25896 broad.mit.edu 37 1 212180677 212180677 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:212180677G>C ENST00000366994.3 - 6 775 c.671C>G c.(670-672)tCc>tGc p.S224C INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366992.3_Missense_Mutation_p.S224C|INTS7_ENST00000366993.3_Missense_Mutation_p.S224C|INTS7_ENST00000440600.2_Missense_Mutation_p.S175C NM_001199811.1|NM_001199812.1|NM_015434.3 NP_001186740.1|NP_001186741.1|NP_056249.1 Q9NVH2 INT7_HUMAN integrator complex subunit 7 224 snRNA processing integrator complex protein binding NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852) GGACGGATAGGATGTGACCAG 0.433000 14 45 0 0 1 0 0 BTN2A1 11120 broad.mit.edu 37 6 26465586 26465586 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:26465586G>A ENST00000429381.1 + 5 1098 c.886G>A c.(886-888)Gaa>Aaa p.E296K BTN2A1_ENST00000469185.1_Missense_Mutation_p.E296K|BTN2A1_ENST00000312541.5_Missense_Mutation_p.E296K|BTN2A1_ENST00000541522.1_Missense_Mutation_p.E235K Q7KYR7 BT2A1_HUMAN butyrophilin, subfamily 2, member A1 296 lipid metabolic process integral to plasma membrane breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3) 27 TGCTCTAAAGGAACTGGAGAA 0.423000 58 69 0 0 1 0 0 OSTCP1 202459 broad.mit.edu 37 6 159262970 159262970 + RNA SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:159262970C>G ENST00000522287.1 - 0 373 NR_028496.1 TTCATTTACTCTGTAGGCCAA 0.418000 23 84 0 0 1 0 0 TOR1A 1861 broad.mit.edu 37 9 132584879 132584879 + Nonsense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:132584879G>C ENST00000351698.4 - 2 473 c.425C>G c.(424-426)tCa>tGa p.S142* TOR1A_ENST00000473084.1_5'UTR NM_000113.2 NP_000104.1 O14656 TOR1A_HUMAN torsin family 1, member A (torsin A) 142 chaperone mediated protein folding requiring cofactor|response to unfolded protein endoplasmic reticulum lumen|nuclear membrane ATP binding|serine-type endopeptidase activity|unfolded protein binding central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1) 20 Ovarian(14;0.00556) GGTGATGTTTGAAGCATGTGG 0.463000 14 67 0 0 1 0 0 SERPING1 710 broad.mit.edu 37 11 57373870 57373870 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:57373870C>T ENST00000403558.1 + 5 1374 c.1008C>T c.(1006-1008)ctC>ctT p.L336L SERPING1_ENST00000378324.2_Intron|SERPING1_ENST00000378323.4_Intron|SERPING1_ENST00000340687.6_Intron|SERPING1_ENST00000278407.4_Intron NM_001032295.1 NP_001027466.1 P05155 IC1_HUMAN serpin peptidase inhibitor, clade G (C1 inhibitor), member 1 296 blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation extracellular space|platelet alpha granule lumen protein binding|serine-type endopeptidase inhibitor activity central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1) 27 CCTCCCACCTCTTCCCTCTAG 0.433000 15 78 0 0 1 0 0 ZNF750 79755 broad.mit.edu 37 17 80788126 80788126 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:80788126C>G ENST00000269394.3 - 3 2897 c.2064G>C c.(2062-2064)aaG>aaC p.K688N TBCD_ENST00000539345.2_Intron|ZNF750_ENST00000572562.1_Missense_Mutation_p.K289N|TBCD_ENST00000355528.4_Intron|TBCD_ENST00000397466.2_Intron NM_024702.2 NP_078978.2 Q32MQ0 ZN750_HUMAN zinc finger protein 750 688 intracellular zinc ion binding NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 31 Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0514)|all_epithelial(8;0.0748) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149) GACTTGTCCTCTTTTGTCCTT 0.592000 38 103 0 0 1 0 0 UBTF 7343 broad.mit.edu 37 17 42289312 42289312 + Silent SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:42289312G>C ENST00000302904.4 - 9 1326 c.834C>G c.(832-834)acC>acG p.T278T UBTF_ENST00000527034.1_Silent_p.T241T|UBTF_ENST00000533177.1_Silent_p.T241T|UBTF_ENST00000436088.1_Silent_p.T278T|UBTF_ENST00000343638.5_Silent_p.T241T|UBTF_ENST00000393606.3_Silent_p.T241T|UBTF_ENST00000526094.1_Silent_p.T241T|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000529383.1_Silent_p.T278T P17480 UBF1_HUMAN upstream binding transcription factor, RNA polymerase I 278 positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter nucleolus|nucleoplasm DNA binding|protein binding breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 Breast(137;0.00765)|Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.114) GGGTGGACTTGGTGATACCCT 0.612000 35 124 0 0 1 0 0 DENND4C 55667 broad.mit.edu 37 9 19345995 19345995 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:19345995G>C ENST00000380432.2 + 18 2406 c.2373G>C c.(2371-2373)aaG>aaC p.K791N DENND4C_ENST00000434457.2_Missense_Mutation_p.K1076N|DENND4C_ENST00000602925.1_Missense_Mutation_p.K1027N Q5VZ89 DEN4C_HUMAN DENN/MADD domain containing 4C 791 integral to membrane breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 CTAATCTCAAGAAGAATGGTG 0.358000 19 65 0 0 1 0 0 ZNF561 93134 broad.mit.edu 37 19 9727726 9727726 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:9727726G>A ENST00000302851.3 - 4 599 c.236C>T c.(235-237)tCt>tTt p.S79F ZNF561_ENST00000424629.1_Missense_Mutation_p.S10F|ZNF561_ENST00000495503.1_5'UTR|ZNF561_ENST00000354661.4_5'UTR|ZNF561_ENST00000326044.5_Missense_Mutation_p.S79F NM_152289.2 NP_689502.2 Q8N587 ZN561_HUMAN zinc finger protein 561 79 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1) 14 CTTACCCACAGAGGCCAGGTT 0.537000 14 62 0 0 1 0 0 RRP36 88745 broad.mit.edu 37 6 42995194 42995194 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:42995194C>T ENST00000244496.5 + 6 632 c.622C>T c.(622-624)Cgg>Tgg p.R208W NM_033112.2 NP_149103.1 Q96EU6 RRP36_HUMAN ribosomal RNA processing 36 homolog (S. cerevisiae) 208 ribosomal small subunit biogenesis|rRNA processing nucleolus NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1) 11 GCAGGGCCATCGGCCATACTT 0.572000 29 76 0 0 1 0 0 DNMT3A 1788 broad.mit.edu 37 2 25457247 25457247 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:25457247C>T ENST00000264709.3 - 23 2977 c.2640G>A c.(2638-2640)atG>atA p.M880I DNMT3A_ENST00000380746.4_Missense_Mutation_p.M691I|DNMT3A_ENST00000321117.5_Missense_Mutation_p.M880I|DNMT3A_ENST00000402667.1_Missense_Mutation_p.M657I NM_175629.2 NP_783328.1 Q9Y6K1 DNM3A_HUMAN DNA (cytosine-5-)-methyltransferase 3 alpha 880 regulation of gene expression by genetic imprinting cytoplasm|euchromatin|nuclear matrix DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 1021 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) CCAAGCGGCTCATGTTGGAGA 0.597000 """Mis, F, N, S""" AML 28 58 0 0 1 0 0 DOPEY2 9980 broad.mit.edu 37 21 37620841 37620841 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr21:37620841C>G ENST00000399151.3 + 21 5058 c.4973C>G c.(4972-4974)tCt>tGt p.S1658C NM_005128.2 NP_005119.2 Q9Y3R5 DOP2_HUMAN dopey family member 2 1658 endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport Golgi membrane autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 AAGGGATCCTCTTCCGTTTAC 0.438000 12 54 0 0 1 0 0 USP42 84132 broad.mit.edu 37 7 6193699 6193699 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:6193699G>A ENST00000306177.5 + 15 2672 c.2514G>A c.(2512-2514)atG>atA p.M838I NM_032172.2 NP_115548.1 Q9H9J4 UBP42_HUMAN ubiquitin specific peptidase 42 838 Pro-rich. cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1) 35 Ovarian(82;0.0423) UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14) CAAAGGGGATGATCGCGGAGG 0.701000 32 94 0 0 1 0 0 MARK1 4139 broad.mit.edu 37 1 220752866 220752866 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:220752866C>T ENST00000366918.4 + 2 819 c.222C>T c.(220-222)gtC>gtT p.V74V MARK1_ENST00000366917.4_Silent_p.V74V|MARK1_ENST00000402574.1_5'UTR Q9P0L2 MARK1_HUMAN MAP/microtubule affinity-regulating kinase 1 74 Protein kinase. intracellular protein kinase cascade cytoplasm|microtubule cytoskeleton ATP binding|magnesium ion binding|protein serine/threonine kinase activity central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1) 63 GBM - Glioblastoma multiforme(131;0.0407) TTGCCAAAGTCAAATTGGCAA 0.413000 9 58 0 0 1 0 0 TEC 7006 broad.mit.edu 37 4 48140806 48140806 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr4:48140806C>G ENST00000381501.3 - 17 1845 c.1688G>C c.(1687-1689)aGa>aCa p.R563T NM_003215.2 NP_003206.2 P42680 TEC_HUMAN tec protein tyrosine kinase 563 Protein kinase. R -> K (in a lung adenocarcinoma sample; somatic mutation). intracellular protein kinase cascade cytosol ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding p.R563K(1) breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1) 31 AAAAGGCATTCTGCCTTCCGT 0.458000 14 50 0 0 1 0 0 ASXL1 171023 broad.mit.edu 37 20 31022245 31022245 + Nonsense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr20:31022245C>G ENST00000375687.4 + 13 2154 c.1730C>G c.(1729-1731)tCa>tGa p.S577* ASXL1_ENST00000306058.5_Nonsense_Mutation_p.S572* NM_015338.5 NP_056153 Q8IXJ9 ASXL1_HUMAN additional sex combs like 1 (Drosophila) 577 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent PR-DUB complex metal ion binding|protein binding p.S577*(1) NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 722 ATTCAACTTTCACGTATCAAA 0.473000 """F, N, Mis""" """MDS, CMML""" 18 103 0 0 1 0 0 ASCL3 56676 broad.mit.edu 37 11 8959695 8959695 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:8959695C>T ENST00000325884.1 - 2 73 c.14G>A c.(13-15)aGa>aAa p.R5K ASCL3_ENST00000531618.1_Missense_Mutation_p.R5K NM_020646.1 NP_065697.1 Q9NQ33 ASCL3_HUMAN achaete-scute family bHLH transcription factor 3 4 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleolus DNA binding breast(1)|large_intestine(2)|lung(5)|stomach(1) 9 Epithelial(150;1.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0228) AGAGTTGCCTCTGTTGTCCAT 0.443000 80 227 0 0 1 0 0 HS3ST5 222537 broad.mit.edu 37 6 114379227 114379227 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:114379227C>G ENST00000312719.5 - 5 1423 c.235G>C c.(235-237)Gag>Cag p.E79Q HS3ST5_ENST00000411826.1_Missense_Mutation_p.E79Q|RP3-399L15.3_ENST00000519104.1_RNA|RP3-399L15.3_ENST00000519270.1_RNA|RP3-399L15.3_ENST00000523087.1_RNA Q8IZT8 HS3S5_HUMAN heparan sulfate (glucosamine) 3-O-sulfotransferase 5 79 heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell Golgi membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3) 41 all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154) OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143) CGAACCTGCTCCTTGGAAGCG 0.597000 14 69 0 0 1 0 0 LMAN2L 81562 broad.mit.edu 37 2 97403767 97403767 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:97403767C>T ENST00000264963.4 - 2 247 c.225G>A c.(223-225)atG>atA p.M75I LMAN2L_ENST00000426463.2_5'UTR|LMAN2L_ENST00000537039.1_Intron|LMAN2L_ENST00000377079.4_Missense_Mutation_p.M75I|LMAN2L_ENST00000534882.1_Intron NM_030805.3 NP_110432.1 Q9H0V9 LMA2L_HUMAN lectin, mannose-binding 2-like 75 L-type lectin-like. ER to Golgi vesicle-mediated transport|protein folding|protein transport endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi membrane|integral to membrane mannose binding|metal ion binding NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1) 7 TGGCATTGCCCATCAGATTCC 0.493000 16 24 0 0 1 0 0 SNX32 254122 broad.mit.edu 37 11 65618826 65618826 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:65618826C>T ENST00000308342.6 + 8 1162 c.737C>T c.(736-738)tCa>tTa p.S246L NM_152760.2 NP_689973.2 Q86XE0 SNX32_HUMAN sorting nexin 32 246 cell communication|protein transport phosphatidylinositol binding endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 20 READ - Rectum adenocarcinoma(159;0.171) ATCCCTATCTCAGCTGCGCTG 0.562000 OREG0021087 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 14 40 0 0 1 0 0 DISP2 85455 broad.mit.edu 37 15 40655912 40655912 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr15:40655912C>T ENST00000267889.3 + 2 293 c.206C>T c.(205-207)tCt>tTt p.S69F NM_033510.1 NP_277045.1 A7MBM2 DISP2_HUMAN dispatched homolog 2 (Drosophila) 69 smoothened signaling pathway integral to membrane breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4) 30 all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247) CCTTCCAGCTCTTCAGGACCC 0.637000 48 149 0 0 1 0 0 COMP 1311 broad.mit.edu 37 19 18896558 18896558 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:18896558G>A ENST00000542601.2 - 13 1883 c.1494C>T c.(1492-1494)ttC>ttT p.F498F COMP_ENST00000425807.1_Silent_p.F478F|COMP_ENST00000222271.2_Silent_p.F531F P49747 COMP_HUMAN cartilage oligomeric matrix protein 531 anti-apoptosis|apoptosis|cell adhesion|limb development extracellular space|proteinaceous extracellular matrix calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 32 GGAAGGCCCTGAAGTCGGTGA 0.632000 28 65 0 0 1 0 0 PCIF1 63935 broad.mit.edu 37 20 44573623 44573623 + Silent SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr20:44573623G>C ENST00000372409.3 + 11 1486 c.1122G>C c.(1120-1122)cgG>cgC p.R374R NM_022104.3 NP_071387.1 Q9H4Z3 PCIF1_HUMAN PDX1 C-terminal inhibiting factor 1 374 nucleus central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 20 ACGTCAAACGGATCCGAGAGA 0.572000 7 36 0 0 1 0 0 CTC-360G5.8 0 broad.mit.edu 37 19 39435635 39435635 + Nonsense_Mutation SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:39435635G>T ENST00000599996.1 - 4 379 c.380C>A c.(379-381)tCa>tAa p.S127* FBXO17_ENST00000292852.4_Missense_Mutation_p.Q223K|FBXO17_ENST00000595329.1_Missense_Mutation_p.Q223K|SARS2_ENST00000448145.2_Missense_Mutation_p.Q58K TCAGTCCACTGAAGGACCGGG 0.612000 24 112 7.33532e-06 7.51693e-06 1 1 0 ABCC3 8714 broad.mit.edu 37 17 48741345 48741345 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:48741345C>T ENST00000285238.8 + 10 1291 c.1211C>T c.(1210-1212)tCc>tTc p.S404F ABCC3_ENST00000427699.1_Missense_Mutation_p.S404F NM_003786.3 NP_003777.2 O15438 MRP3_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 3 404 ABC transmembrane type-1 1. bile acid metabolic process integral to plasma membrane|membrane fraction ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 33 BRCA - Breast invasive adenocarcinoma(22;3.05e-09) Glibenclamide(DB01016) AAACGTGCGTCCACTGTGGGG 0.577000 54 68 0 0 1 0 0 KLHDC8B 200942 broad.mit.edu 37 3 49212219 49212219 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:49212219G>C ENST00000332780.2 + 4 795 c.586G>C c.(586-588)Gat>Cat p.D196H KLHDC8B_ENST00000476495.2_3'UTR NM_173546.2 NP_775817.1 Q8IXV7 KLD8B_HUMAN kelch domain containing 8B 196 cytoplasm endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1) 7 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) TGAAGCCTTTGATCTGGAGGC 0.632000 22 58 0 0 1 0 0 CHD7 55636 broad.mit.edu 37 8 61693580 61693580 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:61693580C>T ENST00000423902.2 + 3 2166 c.1687C>T c.(1687-1689)Cta>Tta p.L563L CHD7_ENST00000525508.1_Silent_p.L563L|CHD7_ENST00000524602.1_Silent_p.L563L NM_017780.3 NP_060250.2 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 563 Pro-rich. central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity p.556_871dup(1) NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3) 123 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) GGAGCCCTTTCTAGAGAAACC 0.433000 5 16 0 0 1 0 0 MICAL1 64780 broad.mit.edu 37 6 109771587 109771587 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:109771587C>G ENST00000368952.4 - 8 1454 c.1164G>C c.(1162-1164)atG>atC p.M388I MICAL1_ENST00000358577.3_Intron|MICAL1_ENST00000358807.3_Missense_Mutation_p.M369I Q8TDZ2 MICA1_HUMAN microtubule associated monooxygenase, calponin and LIM domain containing 1 369 cytoskeleton organization|signal transduction cytoplasm|intermediate filament SH3 domain binding|zinc ion binding NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149) Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574) CTGCCCGCATCATGCTCGTGA 0.607000 30 83 0 0 1 0 0 FAM83C 128876 broad.mit.edu 37 20 33874440 33874440 + Silent SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr20:33874440G>C ENST00000374408.3 - 4 2238 c.2142C>G c.(2140-2142)gtC>gtG p.V714V NM_178468.5 NP_848563.1 Q9BQN1 FA83C_HUMAN family with sequence similarity 83, member C 714 central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(18;0.00252) TCTCATCCCTGACCAGGTCAC 0.552000 39 102 0 0 1 0 0 ERMAP 114625 broad.mit.edu 37 1 43308331 43308331 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:43308331G>C ENST00000328249.3 + 9 1624 c.586G>C c.(586-588)Gag>Cag p.E196Q RP11-342M1.3_ENST00000444563.1_RNA|RP11-342M1.3_ENST00000416809.2_RNA|ERMAP_ENST00000372517.2_Missense_Mutation_p.E286Q|RP11-342M1.3_ENST00000425076.1_RNA|RP11-342M1.3_ENST00000414798.1_RNA|ERMAP_ENST00000372514.3_Missense_Mutation_p.E286Q|ERMAP_ENST00000487556.1_3'UTR Q96PL5 ERMAP_HUMAN erythroblast membrane-associated protein (Scianna blood group) 286 Missing (in Sc-3 allele). integral to membrane|plasma membrane breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1) 11 Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155) Myeloproliferative disorder(586;0.0333) CCTAGGCTCTGAGTACTTCAC 0.507000 27 124 0 0 1 0 0 ZNF202 7753 broad.mit.edu 37 11 123597521 123597521 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:123597521C>T ENST00000336139.4 - 8 1493 c.1131G>A c.(1129-1131)gtG>gtA p.V377V ZNF202_ENST00000529691.1_Silent_p.V377V|ZNF202_ENST00000530393.1_Silent_p.V377V O95125 ZN202_HUMAN zinc finger protein 202 377 lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 30 Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03) CAAAACTATTCACTTGAGAAA 0.433000 21 107 0 0 1 0 0 ULBP3 79465 broad.mit.edu 37 6 150387253 150387253 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:150387253C>T ENST00000367339.2 - 2 162 c.134G>A c.(133-135)aGa>aAa p.R45K ULBP3_ENST00000438272.2_Missense_Mutation_p.R45K Q9BZM4 N2DL3_HUMAN UL16 binding protein 3 MHC class I alpha-1 like. antigen processing and presentation|immune response|natural killer cell activation anchored to membrane|MHC class I protein complex MHC class I receptor activity central_nervous_system(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 9 Ovarian(120;0.12) BRCA - Breast invasive adenocarcinoma(37;0.193) OV - Ovarian serous cystadenocarcinoma(155;2.45e-12) TTGCCCATGTCTGGGCAAATG 0.468000 12 67 0 0 1 0 0 FSTL3 10272 broad.mit.edu 37 19 677928 677928 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:677928G>A ENST00000166139.4 + 2 272 c.240G>A c.(238-240)aaG>aaA p.K80K NM_005860.2 NP_005851.1 O95633 FSTL3_HUMAN follistatin-like 3 (secreted glycoprotein) 80 TB. hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of osteoclast differentiation|ossification|positive regulation of cell-cell adhesion|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent extracellular space|nucleus activin binding|fibronectin binding all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CGGGGAACAAGATCAACCTCC 0.627000 T CCND1 B-CLL 29 109 0 0 1 0 0 RXRB 6257 broad.mit.edu 37 6 33165597 33165597 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:33165597C>T ENST00000374680.3 - 4 973 c.762G>A c.(760-762)cgG>cgA p.R254R RXRB_ENST00000374685.4_Silent_p.R254R|RXRB_ENST00000544186.1_Silent_p.R64R|RXRB_ENST00000413614.2_Silent_p.R158R NM_001270401.1|NM_021976.4 NP_001257330.1|NP_068811.1 P28702 RXRB_HUMAN retinoid X receptor, beta 254 regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor nucleoplasm ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2) 15 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755) GACAGCGGTTCCGCTGGCGCT 0.582000 9 48 0 0 1 0 0 NAV2 89797 broad.mit.edu 37 11 20078127 20078127 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:20078127C>T ENST00000540292.1 + 22 4745 c.4745C>T c.(4744-4746)tCa>tTa p.S1582L NAV2_ENST00000360655.4_Intron|NAV2_ENST00000396087.3_Missense_Mutation_p.S1651L|NAV2_ENST00000349880.4_Intron|NAV2_ENST00000396085.1_Intron|NAV2_ENST00000527559.2_Missense_Mutation_p.S1580L|NAV2_ENST00000311043.8_Intron|NAV2_ENST00000533917.1_Intron Q8IVL1 NAV2_HUMAN neuron navigator 2 1651 Ser-rich. nucleus ATP binding|helicase activity NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 116 CTTCACAGCTCACTTCATTTC 0.408000 9 43 0 0 1 0 0 GAS8 2622 broad.mit.edu 37 16 90106743 90106743 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr16:90106743C>T ENST00000268699.4 + 9 1169 c.1047C>T c.(1045-1047)ttC>ttT p.F349F GAS8_ENST00000536122.1_Silent_p.F324F|GAS8_ENST00000540721.1_3'UTR NM_001481.2 NP_001472.1 O95995 GAS8_HUMAN growth arrest-specific 8 349 negative regulation of cell proliferation|sperm motility cilium|Golgi apparatus|microtubule|microtubule basal body|microtubule-based flagellum protein binding endometrium(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 14 all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194) BRCA - Breast invasive adenocarcinoma(80;0.029) ATCGGAAGTTCACCGCAGCCA 0.622000 4 15 0 0 1 0 0 PHKA1 5255 broad.mit.edu 37 X 71915560 71915560 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chrX:71915560G>A ENST00000373545.3 - 4 890 c.452C>T c.(451-453)tCa>tTa p.S151L PHKA1_ENST00000339490.3_Missense_Mutation_p.S151L|PHKA1_ENST00000373542.4_Missense_Mutation_p.S151L|PHKA1_ENST00000373539.3_Missense_Mutation_p.S151L|PHKA1_ENST00000541944.1_Missense_Mutation_p.S151L|PHKA1-AS1_ENST00000420998.1_RNA P46020 KPB1_HUMAN phosphorylase kinase, alpha 1 (muscle) 151 glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Renal(35;0.156) GTACTGACCTGAGGCAGTCAT 0.498000 16 19 0 0 1 0 0 F13A1 2162 broad.mit.edu 37 6 6152170 6152170 + Nonsense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:6152170G>A ENST00000264870.3 - 14 2186 c.1921C>T c.(1921-1923)Cag>Tag p.Q641* NM_000129.3 NP_000120.2 P00488 F13A_HUMAN coagulation factor XIII, A1 polypeptide 641 peptide cross-linking|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 62 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) CCAACTACCTGAGTGCCACGG 0.438000 22 23 0 0 1 0 0 CSF3R 1441 broad.mit.edu 37 1 36933742 36933742 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:36933742C>T ENST00000373103.1 - 13 2204 c.1657G>A c.(1657-1659)Gag>Aag p.E553K CSF3R_ENST00000338937.5_Missense_Mutation_p.E553K|CSF3R_ENST00000361632.4_Missense_Mutation_p.E553K|CSF3R_ENST00000418048.2_Missense_Mutation_p.E553K|CSF3R_ENST00000373104.1_Missense_Mutation_p.E553K|CSF3R_ENST00000331941.5_Missense_Mutation_p.E553K|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000373106.1_Missense_Mutation_p.E553K|CSF3R_ENST00000440588.2_Missense_Mutation_p.E553K NM_156039.3 NP_724781.1 Q99062 CSF3R_HUMAN colony stimulating factor 3 receptor (granulocyte) 553 Fibronectin type-III 5. cell adhesion|defense response extracellular region|integral to plasma membrane cytokine receptor activity central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) Filgrastim(DB00099)|Pegfilgrastim(DB00019) TTCCCCAGCTCAGGGGGCTCA 0.592000 30 81 0 0 1 0 0 TTC21B 79809 broad.mit.edu 37 2 166747063 166747063 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:166747063C>G ENST00000243344.7 - 24 3326 c.3189G>C c.(3187-3189)atG>atC p.M1063I TTC21B_ENST00000536175.1_Start_Codon_SNP_p.M1I NM_024753.4 NP_079029.3 Q7Z4L5 TT21B_HUMAN tetratricopeptide repeat domain 21B 1063 cilium axoneme|cytoplasm|cytoskeleton binding breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1) 58 AGATCTCTATCATATTATAAA 0.388000 14 35 0 0 1 0 0 POLQ 10721 broad.mit.edu 37 3 121207035 121207035 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:121207035C>T ENST00000264233.5 - 16 4871 c.4743G>A c.(4741-4743)aaG>aaA p.K1581K NM_199420.3 NP_955452.3 O75417 DPOLQ_HUMAN polymerase (DNA directed), theta 1581 DNA repair|DNA replication nucleoplasm ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2) 120 GBM - Glioblastoma multiforme(114;0.0915) CAGTATGATTCTTCTCTTGGA 0.383000 DNA polymerases (catalytic subunits) 29 83 0 0 1 0 0 ERCC6 2074 broad.mit.edu 37 10 50678885 50678885 + Nonsense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:50678885G>A ENST00000355832.5 - 18 3199 c.3121C>T c.(3121-3123)Caa>Taa p.Q1041* RP11-123B3.2_ENST00000423283.1_RNA|ERCC6_ENST00000542458.1_Nonsense_Mutation_p.Q411* NM_000124.2 NP_000115.1 Q03468 ERCC6_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 6 1041 base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair nucleolus|soluble fraction|transcription elongation factor complex ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 64 AAGGCTGGTTGAATCCTTCTT 0.393000 Direct reversal of damage;Nucleotide excision repair (NER) 24 89 0 0 1 0 0 IL6ST 3572 broad.mit.edu 37 5 55238517 55238517 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:55238517G>A ENST00000381298.2 - 16 2312 c.2000C>T c.(1999-2001)tCa>tTa p.S667L IL6ST_ENST00000381293.2_Missense_Mutation_p.H180Y|IL6ST_ENST00000381294.3_Missense_Mutation_p.S606L|IL6ST_ENST00000536319.1_3'UTR|IL6ST_ENST00000336909.5_Missense_Mutation_p.S667L|IL6ST_ENST00000381286.3_Missense_Mutation_p.H43Y|IL6ST_ENST00000502326.3_Missense_Mutation_p.S667L|IL6ST_ENST00000381287.4_3'UTR NM_001190981.1|NM_002184.3|NM_175767.2 NP_001177910.1|NP_002175.2|NP_786943.1 P40189 IL6RB_HUMAN interleukin 6 signal transducer (gp130, oncostatin M receptor) 667 interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 26 Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223) AGTGTGAGGTGACCACTGGGC 0.368000 O hepatocellular ca 10 34 0 0 1 0 0 RPS6KA6 27330 broad.mit.edu 37 X 83361413 83361413 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chrX:83361413C>T ENST00000262752.2 - 15 1332 c.1325G>A c.(1324-1326)cGa>cAa p.R442Q RPS6KA6_ENST00000495332.1_5'UTR|RPS6KA6_ENST00000543399.1_Missense_Mutation_p.R442Q NM_014496.4 NP_055311.1 Q9UK32 KS6A6_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 6 442 Protein kinase 2. axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 46 ATGTATGCATCGCTTGCAAAC 0.353000 4 7 0 0 1 0 0 MUC3A 4584 broad.mit.edu 37 7 100549608 100549608 + Silent SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:100549608C>G ENST00000379458.4 + 2 189 c.189C>G c.(187-189)ctC>ctG p.L63L MUC3A_ENST00000483366.1_3'UTR mucin 3A, cell surface associated breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3) 44 TCCCCCAGCTCGCCTCTCCTG 0.572000 30 134 0 0 1 0 0 NAV3 89795 broad.mit.edu 37 12 78569172 78569172 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:78569172G>C ENST00000397909.2 + 25 5241 c.5068G>C c.(5068-5070)Gat>Cat p.D1690H NAV3_ENST00000536525.2_Missense_Mutation_p.D1690H|NAV3_ENST00000228327.6_Missense_Mutation_p.D1690H|NAV3_ENST00000266692.7_Missense_Mutation_p.D1513H Q8IVL0 NAV3_HUMAN neuron navigator 3 1690 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1) 236 CAGTGGTAATGATGCCGACTC 0.398000 HNSCC(70;0.22) 6 46 0 0 1 0 0 DMRTA2 63950 broad.mit.edu 37 1 50884475 50884475 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:50884475G>A ENST00000404795.3 - 3 1883 c.1491C>T c.(1489-1491)ttC>ttT p.F497F DMRTA2_ENST00000418121.1_Silent_p.F497F NM_032110.2 NP_115486.1 Q96SC8 DMTA2_HUMAN DMRT-like family A2 497 Ala-rich. sex differentiation nucleus DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity endometrium(1)|lung(4)|pancreas(1) 6 TGGGTGGGCGGAAGCCGAGCG 0.726000 8 17 0 0 1 0 0 MYH11 4629 broad.mit.edu 37 16 15835629 15835629 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr16:15835629C>T ENST00000452625.2 - 22 2748 c.2661G>A c.(2659-2661)caG>caA p.Q887Q MYH11_ENST00000396324.3_Silent_p.Q887Q|AF001548.6_ENST00000577048.1_RNA|MYH11_ENST00000576790.2_Silent_p.Q880Q|MYH11_ENST00000300036.5_Silent_p.Q880Q NM_001040113.1 NP_001035202.1 P35749 MYH11_HUMAN myosin, heavy chain 11, smooth muscle 880 EEK -> NSE (in Ref. 4). axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction cytosol|melanosome|muscle myosin complex|myosin filament actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1) 123 GCGAGTGCTTCTGTTCCAGCT 0.612000 T CBFB AML 86 245 0 0 1 0 0 NBEAL1 65065 broad.mit.edu 37 2 204002904 204002904 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:204002904G>C ENST00000449802.1 + 29 4831 c.4498G>C c.(4498-4500)Gaa>Caa p.E1500Q NM_001114132.1 NP_001107604.1 Q6ZS30 NBEL1_HUMAN neurobeachin-like 1 1500 binding NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 AAAGATGTTAGAATGGGCAAT 0.358000 12 32 0 0 1 0 0 NUP85 79902 broad.mit.edu 37 17 73208116 73208116 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:73208116C>T ENST00000245544.4 + 4 391 c.320C>T c.(319-321)tCa>tTa p.S107L NUP85_ENST00000579298.1_Missense_Mutation_p.S107L|NUP85_ENST00000579324.1_5'UTR|NUP85_ENST00000541827.1_Missense_Mutation_p.S61L|NUP85_ENST00000447371.2_5'UTR|NUP85_ENST00000449421.2_3'UTR NM_024844.3 NP_079120.1 Q9BW27 NUP85_HUMAN nucleoporin 85kDa 107 carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle protein binding endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 16 all_lung(278;0.14)|Lung NSC(278;0.168) all cancers(21;3.45e-06) AACTACCGATCAGTCATCAGA 0.458000 6 35 0 0 1 0 0 KIAA1109 84162 broad.mit.edu 37 4 123237989 123237989 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr4:123237989G>A ENST00000264501.4 + 62 11015 c.10642G>A c.(10642-10644)Gaa>Aaa p.E3548K KIAA1109_ENST00000388738.3_Missense_Mutation_p.E3548K|KIAA1109_ENST00000455637.1_Missense_Mutation_p.E3548K Q2LD37 K1109_HUMAN KIAA1109 3548 regulation of cell growth|regulation of epithelial cell differentiation integral to membrane|nucleus breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3) 172 AGAACTGAATGAACAGGCCAA 0.353000 13 52 0 0 1 0 0 SNHG14 104472715 broad.mit.edu 37 15 25429171 25429171 + RNA SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr15:25429171G>A ENST00000424208.1 + 0 399 NR_003305.1 TGGGTCCATGGAAGGCGAGCA 0.572000 4 4 0 0 1 0 0 PSME4 23198 broad.mit.edu 37 2 54163918 54163918 + Missense_Mutation SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:54163918G>T ENST00000404125.1 - 6 797 c.742C>A c.(742-744)Ctc>Atc p.L248I PSME4_ENST00000421748.2_Intron NM_014614.2 NP_055429.2 Q14997 PSME4_HUMAN proteasome (prosome, macropain) activator subunit 4 248 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction nuclear speck|proteasome complex binding breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2) 60 Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181) CATTGTGGGAGATTTTGCACT 0.353000 21 56 1.10513e-12 1.16196e-12 1 1 0 NEB 4703 broad.mit.edu 37 2 152468834 152468834 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:152468834C>G ENST00000427231.2 - 78 11873 c.11671G>C c.(11671-11673)Gag>Cag p.E3891Q NEB_ENST00000603639.1_Missense_Mutation_p.E3891Q|NEB_ENST00000397345.3_Missense_Mutation_p.E3891Q|NEB_ENST00000172853.10_Missense_Mutation_p.E3648Q|NEB_ENST00000604864.1_Missense_Mutation_p.E3891Q|NEB_ENST00000409198.1_Missense_Mutation_p.E3648Q NM_001164507.1|NM_001271208.1 NP_001157979|NP_001258137.1 P20929 NEBU_HUMAN nebulin 3891 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2) 301 BRCA - Breast invasive adenocarcinoma(221;0.219) TTCACTTTCTCGACCTCTACA 0.438000 7 38 0 0 1 0 0 CEMP1 752014 broad.mit.edu 37 16 2581056 2581056 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr16:2581056C>T ENST00000382350.1 - 1 364 c.19G>A c.(19-21)Gac>Aac p.D7N CEMP1_ENST00000565480.1_Missense_Mutation_p.D7N|AMDHD2_ENST00000302956.4_3'UTR|CEMP1_ENST00000567119.1_Missense_Mutation_p.D7N|AMDHD2_ENST00000565570.1_3'UTR Q6PRD7 CEMP1_HUMAN cementum protein 1 7 cytoplasm lung(1)|skin(1) 2 TGCTGGCTGTCAGTGCTTGAT 0.617000 16 73 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9071650 9071650 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:9071650C>T ENST00000397910.4 - 3 15999 c.15796G>A c.(15796-15798)Gaa>Aaa p.E5266K NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 5268 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 ATCGTCATTTCTGCAGATTTT 0.512000 11 93 0 0 1 0 0 PCDHGC3 5098 broad.mit.edu 37 5 140855658 140855658 + Translation_Start_Site SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:140855658G>A ENST00000308177.3 + 0 79 PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron NM_002588.2|NM_032402.1 NP_002579.2|NP_115778.1 breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1) 29 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCTGGACCCCGCTGAGAGGAA 0.592000 23 84 0 0 1 0 0 IGFL1 374918 broad.mit.edu 37 19 46733686 46733686 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:46733686G>C ENST00000437936.1 + 3 258 c.235G>C c.(235-237)Gag>Cag p.E79Q NM_198541.1 NP_940943.1 Q6UW32 IGFL1_HUMAN IGF-like family member 1 79 extracellular space protein binding lung(5) 5 Ovarian(192;0.0731)|all_neural(266;0.196) OV - Ovarian serous cystadenocarcinoma(262;0.00242)|all cancers(93;0.0132)|GBM - Glioblastoma multiforme(486;0.0294)|Epithelial(262;0.201) AGTCTGCTTTGAGCAGTGCTG 0.572000 40 145 0 0 1 0 0 SOGA3 387104 broad.mit.edu 37 6 127796494 127796494 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:127796494C>G ENST00000556132.1 - 6 3541 c.2677G>C c.(2677-2679)Gag>Cag p.E893Q SOGA3_ENST00000481848.2_Missense_Mutation_p.E893Q|SOGA3_ENST00000525778.1_Missense_Mutation_p.E893Q|SOGA3_ENST00000474293.2_5'UTR|SOGA3_ENST00000465909.2_Missense_Mutation_p.E893Q|SOGA3_ENST00000368268.2_Missense_Mutation_p.E893Q NM_001012279.2 NP_001012279.1 Q5TF21 CF174_HUMAN SOGA family member 3 893 integral to membrane TTGGGCACCTCGAGGCGGTCG 0.657000 39 124 0 0 1 0 0 NDST2 8509 broad.mit.edu 37 10 75567556 75567556 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:75567556G>A ENST00000603027.1 - 3 1214 c.591C>T c.(589-591)ctC>ctT p.L197L NDST2_ENST00000299641.4_Silent_p.L74L|NDST2_ENST00000309979.6_Silent_p.L197L 197 GGTAGTCCCGGAGCCCCAAGT 0.577000 17 63 0 0 1 0 0 NEFM 4741 broad.mit.edu 37 8 24775109 24775109 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:24775109G>A ENST00000221166.5 + 3 2523 c.1741G>A c.(1741-1743)Gaa>Aaa p.E581K NEFM_ENST00000518131.1_Missense_Mutation_p.E581K|NEFM_ENST00000433454.2_Missense_Mutation_p.E205K|NEFM_ENST00000437366.2_Missense_Mutation_p.E581K|NEFM_ENST00000521540.1_Intron P07197 NFM_HUMAN neurofilament, medium polypeptide 581 Tail. neurofilament protein binding|structural constituent of cytoskeleton breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1) 36 Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) agaggaagccgaagctaaaga 0.502000 5 23 0 0 1 0 0 ITGB1BP1 9270 broad.mit.edu 37 2 9546976 9546976 + Missense_Mutation SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:9546976G>T ENST00000360635.3 - 8 1486 c.590C>A c.(589-591)tCt>tAt p.S197Y ITGB1BP1_ENST00000238091.4_Missense_Mutation_p.S147Y|ITGB1BP1_ENST00000490426.1_5'UTR|ITGB1BP1_ENST00000359712.3_3'UTR|ITGB1BP1_ENST00000355346.4_Missense_Mutation_p.S197Y|ITGB1BP1_ENST00000488451.1_Missense_Mutation_p.S147Y O14713 ITBP1_HUMAN integrin beta 1 binding protein 1 197 PID. cell migration|cell-matrix adhesion|intracellular protein kinase cascade cytosol|lamellipodium|membrane|ruffle protein binding kidney(2)|large_intestine(2)|lung(2)|prostate(2) 8 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.23) GGGTTTCTCAGATGTTAATAC 0.368000 18 46 5.3912e-06 5.53136e-06 1 1 0 FKBP15 23307 broad.mit.edu 37 9 115969571 115969571 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:115969571G>C ENST00000238256.3 - 3 292 c.175C>G c.(175-177)Cag>Gag p.Q59E FKBP15_ENST00000493847.1_5'UTR NM_015258.1 NP_056073.1 Q5T1M5 FKB15_HUMAN FK506 binding protein 15, 133kDa 59 endocytosis|protein folding axon|early endosome actin binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1) 26 GGTGTTGCCTGATTTCCTGAA 0.428000 48 207 0 0 1 0 0 PHACTR3 116154 broad.mit.edu 37 20 58330240 58330240 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr20:58330240C>T ENST00000371015.1 + 4 829 c.362C>T c.(361-363)gCt>gTt p.A121V PHACTR3_ENST00000395639.4_Missense_Mutation_p.A80V|PHACTR3_ENST00000541461.1_Missense_Mutation_p.A80V|PHACTR3_ENST00000359926.3_Missense_Mutation_p.A118V|PHACTR3_ENST00000361300.4_Missense_Mutation_p.A80V|PHACTR3_ENST00000355648.4_Missense_Mutation_p.A80V|PHACTR3_ENST00000395636.2_Missense_Mutation_p.A80V NM_001281507.1|NM_080672.3 NP_001268436.1|NP_542403.1 Q96KR7 PHAR3_HUMAN phosphatase and actin regulator 3 121 nuclear matrix actin binding|protein phosphatase inhibitor activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 59 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;2.76e-09) CTTGTAGATGCTGAAAGCAAA 0.537000 13 43 0 0 1 0 0 SYNE2 23224 broad.mit.edu 37 14 64542728 64542728 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:64542728C>G ENST00000357395.3 + 54 11162 c.18C>G c.(16-18)atC>atG p.I6M SYNE2_ENST00000344113.4_Missense_Mutation_p.I3644M|SYNE2_ENST00000554584.1_Missense_Mutation_p.I3677M|SYNE2_ENST00000555002.1_Missense_Mutation_p.I278M|SYNE2_ENST00000358025.3_Missense_Mutation_p.I3644M|SYNE2_ENST00000394768.2_Missense_Mutation_p.I6M Q8WXH0 SYNE2_HUMAN spectrin repeat containing, nuclear envelope 2 3644 Actin-binding. centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc actin binding|protein binding NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4) 224 all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681) AACTGCGAATCAAGTATTCCG 0.368000 8 19 0 0 1 0 0 IQCB1 9657 broad.mit.edu 37 3 121547744 121547744 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:121547744C>G ENST00000310864.6 - 3 278 c.64G>C c.(64-66)Gag>Cag p.E22Q IQCB1_ENST00000349820.6_Missense_Mutation_p.E22Q NM_001023570.2 NP_001018864.2 Q15051 IQCB1_HUMAN IQ motif containing B1 22 cilium assembly|maintenance of organ identity|photoreceptor cell maintenance centrosome|photoreceptor connecting cilium calmodulin binding NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1) 30 GBM - Glioblastoma multiforme(114;0.0983) ACATTCTGCTCAGGGCTTTTT 0.348000 8 38 0 0 1 0 0 CACNA1S 779 broad.mit.edu 37 1 201019552 201019552 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:201019552G>C ENST00000362061.3 - 34 4432 c.4206C>G c.(4204-4206)ttC>ttG p.F1402L CACNA1S_ENST00000367338.3_Missense_Mutation_p.F1383L NM_000069.2 NP_000060.2 Q13698 CAC1S_HUMAN calcium channel, voltage-dependent, L type, alpha 1S subunit 1402 Dihydropyridine binding (By similarity). axon guidance I band|T-tubule|voltage-gated calcium channel complex high voltage-gated calcium channel activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 102 Magnesium Sulfate(DB00653)|Verapamil(DB00661) AGATGGCCTTGAACTCATCCA 0.547000 25 52 0 0 1 0 0 FBXL12 54850 broad.mit.edu 37 19 9921757 9921757 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:9921757G>A ENST00000247977.4 - 3 1037 c.796C>T c.(796-798)Cca>Tca p.P266S FBXL12_ENST00000586651.1_3'UTR|FBXL12_ENST00000591009.1_Missense_Mutation_p.P213S|FBXL12_ENST00000589626.1_3'UTR|FBXL12_ENST00000585379.1_Missense_Mutation_p.P213S|FBXL12_ENST00000588922.1_3'UTR NM_017703.1 NP_060173.1 Q9NXK8 FXL12_HUMAN F-box and leucine-rich repeat protein 12 266 protein binding endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(2) 10 GGCATTTCTGGGGTGACGAGG 0.662000 5 24 0 0 1 0 0 SAMD14 201191 broad.mit.edu 37 17 48194939 48194939 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:48194939C>T ENST00000330175.4 - 4 648 c.331G>A c.(331-333)Gag>Aag p.E111K SAMD14_ENST00000503131.1_Missense_Mutation_p.E111K|SAMD14_ENST00000503734.1_5'UTR NM_001257359.1 NP_001244288.1 Q8IZD0 SAM14_HUMAN sterile alpha motif domain containing 14 111 breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1) 15 GGCTCGTCCTCGTCCAGGCTG 0.761000 3 9 0 0 1 0 0 PMEL 6490 broad.mit.edu 37 12 56349603 56349603 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:56349603C>T ENST00000548747.1 - 8 2178 c.1516G>A c.(1516-1518)Gag>Aag p.E506K PMEL_ENST00000536427.1_Missense_Mutation_p.E464K|PMEL_ENST00000550447.1_Missense_Mutation_p.E135K|PMEL_ENST00000449260.2_Missense_Mutation_p.E506K|PMEL_ENST00000548493.1_Missense_Mutation_p.E506K|PMEL_ENST00000360714.4_Missense_Mutation_p.E506K|PMEL_ENST00000550464.1_Missense_Mutation_p.E420K|PMEL_ENST00000539511.1_Missense_Mutation_p.E420K|PMEL_ENST00000552882.1_Missense_Mutation_p.E506K P40967 PMEL_HUMAN premelanosome protein 506 melanin biosynthetic process|melanosome organization endoplasmic reticulum membrane|extracellular region|Golgi apparatus|integral to membrane|melanosome|multivesicular body membrane|plasma membrane protein binding NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 GCATCCCCCTCACCGGACGGC 0.537000 OREG0021914 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 71 0 0 1 0 0 REV3L 5980 broad.mit.edu 37 6 111632423 111632423 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:111632423C>G ENST00000435970.1 - 31 9226 c.8410G>C c.(8410-8412)Gat>Cat p.D2804H REV3L_ENST00000368802.3_Missense_Mutation_p.D2882H|REV3L_ENST00000368805.1_Missense_Mutation_p.D2882H|REV3L_ENST00000462119.1_5'UTR|RP5-1112D6.8_ENST00000607434.1_RNA|REV3L_ENST00000358835.3_Missense_Mutation_p.D2882H O60673 DPOLZ_HUMAN REV3-like, polymerase (DNA directed), zeta, catalytic subunit 2882 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1) 88 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) AGACTTATATCTCTCGTTTCA 0.348000 DNA polymerases (catalytic subunits) 30 89 0 0 1 0 0 EFCAB5 374786 broad.mit.edu 37 17 28380803 28380803 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:28380803G>C ENST00000394835.3 + 10 2023 c.1831G>C c.(1831-1833)Gag>Cag p.E611Q EFCAB5_ENST00000541045.1_Missense_Mutation_p.E268Q|EFCAB5_ENST00000320856.5_Missense_Mutation_p.E611Q|EFCAB5_ENST00000536908.2_Missense_Mutation_p.E555Q|EFCAB5_ENST00000394832.2_Missense_Mutation_p.E611Q|EFCAB5_ENST00000378738.3_Missense_Mutation_p.E611Q NM_198529.3 NP_940931 A4FU69 EFCB5_HUMAN EF-hand calcium binding domain 5 611 calcium ion binding breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 43 GTCACGCAGAGAGTCTATTGC 0.478000 54 140 0 0 1 0 0 AP2A2 161 broad.mit.edu 37 11 1008107 1008107 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:1008107G>A ENST00000448903.2 + 18 2533 c.2392G>A c.(2392-2394)Gag>Aag p.E798K AP2A2_ENST00000332231.5_Missense_Mutation_p.E799K|AP2A2_ENST00000534328.1_Intron|AP2A2_ENST00000525891.1_3'UTR NM_001242837.1|NM_012305.3 NP_001229766.1|NP_036437.1 O94973 AP2A2_HUMAN adaptor-related protein complex 2, alpha 2 subunit 798 axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction AP-2 adaptor complex|cytosol lipid binding|protein transporter activity breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2) 21 all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082) CGACTTCACGGAGGCGCCAGT 0.657000 9 19 0 0 1 0 0 COL14A1 7373 broad.mit.edu 37 8 121282363 121282363 + Missense_Mutation SNP C C A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:121282363C>A ENST00000297848.3 + 26 3433 c.3163C>A c.(3163-3165)Cta>Ata p.L1055I COL14A1_ENST00000309791.4_Missense_Mutation_p.L1055I|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Missense_Mutation_p.L960I NM_021110.1 NP_066933.1 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 1055 VWFA 2. cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2) 119 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) CATCAGCTTTCTATACAGCAC 0.383000 6 36 3.59834e-05 3.66749e-05 1 1 0 PCBP2 5094 broad.mit.edu 37 12 53858606 53858606 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:53858606C>T ENST00000603815.1 + 9 1004 c.654C>T c.(652-654)ctC>ctT p.L218L PCBP2_ENST00000359282.5_Intron|PCBP2_ENST00000437231.1_Intron|PCBP2_ENST00000552819.1_Intron|PCBP2_ENST00000439930.3_Silent_p.L218L|PCBP2_ENST00000546463.1_Silent_p.L214L|PCBP2_ENST00000548933.1_Intron|PCBP2_ENST00000549863.1_Intron|PCBP2_ENST00000552296.2_Silent_p.L214L|PCBP2_ENST00000541275.1_Silent_p.L214L|PCBP2_ENST00000359462.5_Silent_p.L218L|RP11-793H13.8_ENST00000547717.1_RNA|PCBP2_ENST00000447282.1_Intron|PCBP2_ENST00000455667.3_Intron NM_001128911.1|NM_001128912.1|NM_005016.5|NM_031989.4 NP_001122383.1|NP_001122384.1|NP_005007.2|NP_114366.1 Q15366 PCBP2_HUMAN poly(rC) binding protein 2 218 innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus cytosol|nucleoplasm|ribonucleoprotein complex DNA binding|RNA binding|ubiquitin protein ligase binding central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 15 ccatgtgcctcaaccctgacc 0.582000 20 60 0 0 1 0 0 VAT1 10493 broad.mit.edu 37 17 41174209 41174209 + Nonsense_Mutation SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:41174209G>T ENST00000355653.3 - 1 226 c.131C>A c.(130-132)tCg>tAg p.S44* VAT1_ENST00000587173.1_Nonsense_Mutation_p.S44* NM_006373.3 NP_006364.2 Q99536 VAT1_HUMAN vesicle amine transport 1 44 cytoplasm|integral to membrane oxidoreductase activity|zinc ion binding endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1) 9 Breast(137;0.000717) BRCA - Breast invasive adenocarcinoma(366;0.156) cagtggcggcgaggcggcggc 0.756000 3 8 0.00909568 0.00917134 1 1 0 ACP5 54 broad.mit.edu 37 19 11687567 11687567 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:11687567G>A ENST00000592828.1 - 5 755 c.353C>T c.(352-354)tCt>tTt p.S118F ACP5_ENST00000218758.5_Missense_Mutation_p.S118F|ACP5_ENST00000412435.2_Missense_Mutation_p.S118F|ACP5_ENST00000590420.1_Intron|ACP5_ENST00000433365.2_Missense_Mutation_p.S118F NM_001111034.1 NP_001104504.1 P13686 PPA5_HUMAN acid phosphatase 5, tartrate resistant 118 water-soluble vitamin metabolic process cytosol|integral to membrane|lysosome acid phosphatase activity|ferric iron binding|ferrous iron binding p.S118I(1) breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1) 9 AATCTGGGCAGAGACATTGCC 0.572000 42 131 0 0 1 0 0 TLR6 10333 broad.mit.edu 37 4 38830852 38830852 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr4:38830852C>G ENST00000436693.2 - 2 362 c.243G>C c.(241-243)ttG>ttC p.L81F TLR6_ENST00000381950.1_Missense_Mutation_p.L81F NM_006068.4 NP_006059.2 Q9Y2C9 TLR6_HUMAN toll-like receptor 6 81 activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway integral to plasma membrane|phagocytic vesicle membrane lipopeptide binding|transmembrane receptor activity breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 GGGAAAGTCTCAAAACTGTCA 0.373000 14 49 0 0 1 0 0 TOM1L2 146691 broad.mit.edu 37 17 17772713 17772713 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:17772713G>A ENST00000581396.1 - 7 798 c.702C>T c.(700-702)gtC>gtT p.V234V TOM1L2_ENST00000478943.1_Silent_p.V17V|TOM1L2_ENST00000577517.1_5'UTR|TOM1L2_ENST00000535933.1_Silent_p.V231V|TOM1L2_ENST00000379504.3_Silent_p.V284V|TOM1L2_ENST00000318094.10_Silent_p.V239V|TOM1L2_ENST00000540946.1_Silent_p.V186V|TOM1L2_ENST00000542206.1_Silent_p.V136V|TOM1L2_ENST00000395739.4_Silent_p.V239V NM_001033551.2 NP_001028723.1 Q6ZVM7 TM1L2_HUMAN target of myb1-like 2 (chicken) 284 GAT. intracellular protein transport intracellular endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2) 10 all_neural(463;0.228) GCTCCTCGGTGACCTCCTCAT 0.527000 20 70 0 0 1 0 0 EP300 2033 broad.mit.edu 37 22 41573148 41573148 + Missense_Mutation SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr22:41573148G>T ENST00000263253.7 + 31 6652 c.5433G>T c.(5431-5433)caG>caT p.Q1811H RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA NM_001429.3 NP_001420.2 Q09472 EP300_HUMAN E1A binding protein p300 1811 Binding region for E1A adenovirus. apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16) 171 ACATCAAGCAGAAGCTCCGGC 0.597000 """T, N, F, Mis, O""" """MLL, RUNXBP2""" """colorectal, breast, pancreatic, AML, ALL, DLBCL""" Rubinstein-Taybi syndrome 31 90 1.55811e-20 1.65775e-20 1 1 0 DHH 50846 broad.mit.edu 37 12 49485101 49485101 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:49485101C>T ENST00000266991.2 - 2 681 c.375G>A c.(373-375)gtG>gtA p.V125V RP11-386G11.8_ENST00000553174.1_RNA NM_021044.2 NP_066382.1 O43323 DHH_HUMAN desert hedgehog 125 cell-cell signaling|proteolysis extracellular space|plasma membrane calcium ion binding|peptidase activity|zinc ion binding breast(1)|large_intestine(3)|lung(4) 8 AGCCCTCAGTCACTCGTAGGC 0.597000 32 76 0 0 1 0 0 ABCA8 10351 broad.mit.edu 37 17 66890330 66890330 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:66890330C>T ENST00000269080.2 - 21 3037 c.2900G>A c.(2899-2901)aGa>aAa p.R967K ABCA8_ENST00000430352.2_Missense_Mutation_p.R1007K|ABCA8_ENST00000586539.1_Missense_Mutation_p.R1007K NM_007168.2 NP_009099.1 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A (ABC1), member 8 967 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances p.R967I(1) breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4) 83 Breast(10;4.56e-13) AAATGTACTTCTTTCAGTTCG 0.368000 5 25 0 0 1 0 0 ARHGAP29 9411 broad.mit.edu 37 1 94668138 94668138 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:94668138C>G ENST00000260526.6 - 11 1287 c.1105G>C c.(1105-1107)Gaa>Caa p.E369Q ARHGAP29_ENST00000370217.3_Missense_Mutation_p.E369Q NM_004815.3 NP_004806.3 Q52LW3 RHG29_HUMAN Rho GTPase activating protein 29 369 Rho protein signal transduction cytosol metal ion binding|Rho GTPase activator activity NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 all_lung(203;0.000732)|Lung NSC(277;0.00328) all cancers(265;0.0187)|Epithelial(280;0.159) CGCTTTTTTTCTAGTTGCTTG 0.393000 29 89 0 0 1 0 0 ZNF684 127396 broad.mit.edu 37 1 41006357 41006357 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:41006357G>A ENST00000372699.3 + 3 366 c.115G>A c.(115-117)Gag>Aag p.E39K ZNF684_ENST00000372697.3_Missense_Mutation_p.E39K|ZNF684_ENST00000372696.3_Missense_Mutation_p.E39K|ZNF684_ENST00000493756.1_Intron NM_152373.3 NP_689586.3 Q5T5D7 ZN684_HUMAN zinc finger protein 684 39 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|kidney(2)|lung(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 13 Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;5.42e-18) TGTGATGTTGGAGAACTATAG 0.433000 34 117 0 0 1 0 0 SYT14 255928 broad.mit.edu 37 1 210273593 210273593 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:210273593G>C ENST00000537238.1 + 7 1228 c.837G>C c.(835-837)caG>caC p.Q279H SYT14_ENST00000367019.1_Missense_Mutation_p.Q317H|SYT14_ENST00000271745.7_Intron|SYT14_ENST00000399639.2_Missense_Mutation_p.Q317H|SYT14_ENST00000367015.1_Missense_Mutation_p.Q279H|SYT14_ENST00000472886.1_Missense_Mutation_p.Q317H|SYT14_ENST00000422431.1_Missense_Mutation_p.Q362H|SYT14_ENST00000534859.1_Missense_Mutation_p.Q317H NM_001256006.1|NM_153262.3 NP_001242935.1|NP_694994.2 Q8NB59 SYT14_HUMAN synaptotagmin XIV 317 C2 1. integral to membrane endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3) 37 OV - Ovarian serous cystadenocarcinoma(81;0.085) CCAGCATCCAGAGAGGACCAT 0.403000 14 38 0 0 1 0 0 GPR162 27239 broad.mit.edu 37 12 6933172 6933172 + Silent SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:6933172C>G ENST00000311268.3 + 2 895 c.108C>G c.(106-108)ctC>ctG p.L36L GPR162_ENST00000382315.3_Intron|GPR162_ENST00000428545.2_Intron|GPR162_ENST00000541431.1_Intron NM_019858.1 NP_062832.1 Q16538 GP162_HUMAN G protein-coupled receptor 162 36 integral to membrane|plasma membrane G-protein coupled receptor activity NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1) 18 GGATCATCCTCAGCATCTCGG 0.657000 15 34 0 0 1 0 0 XYLT1 64131 broad.mit.edu 37 16 17211612 17211612 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr16:17211612C>T ENST00000261381.6 - 11 2532 c.2448G>A c.(2446-2448)ctG>ctA p.L816L NM_022166.3 NP_071449.1 Q86Y38 XYLT1_HUMAN xylosyltransferase I 816 glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity p.L816L(1) breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 67 CCCCAGGCCTCAGGGGCAAGT 0.552000 13 77 0 0 1 0 0 KIAA1429 25962 broad.mit.edu 37 8 95527162 95527162 + Nonsense_Mutation SNP C C A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:95527162C>A ENST00000297591.5 - 11 2761 c.2686G>T c.(2686-2688)Gaa>Taa p.E896* KIAA1429_ENST00000437199.1_Nonsense_Mutation_p.E896*|KIAA1429_ENST00000421249.2_Nonsense_Mutation_p.E896* NM_015496.4 NP_056311.2 Q69YN4 VIR_HUMAN KIAA1429 896 mRNA processing|RNA splicing nucleus NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 66 Breast(36;3.29e-05) BRCA - Breast invasive adenocarcinoma(8;0.00185) TTCAGAGGTTCAAGCCACTTG 0.264000 10 14 0.0581538 0.0584292 1 1 0 AKT3 10000 broad.mit.edu 37 1 243727132 243727132 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:243727132C>G ENST00000366539.1 - 10 1038 c.838G>C c.(838-840)Gac>Cac p.D280H AKT3_ENST00000263826.5_Missense_Mutation_p.D280H|AKT3_ENST00000336199.5_Missense_Mutation_p.D280H|AKT3_ENST00000366540.1_Missense_Mutation_p.D280H Q9Y243 AKT3_HUMAN v-akt murine thymoma viral oncogene homolog 3 280 Protein kinase. signal transduction Golgi apparatus|nucleus|plasma membrane ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1) 26 all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168) all_cancers(173;0.0274) all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196) CCATCTTTGTCCAGCATTAGA 0.348000 16 51 0 0 1 0 0 MIB1 57534 broad.mit.edu 37 18 19427037 19427037 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr18:19427037G>A ENST00000261537.6 + 16 2608 c.2344G>A c.(2344-2346)Gat>Aat p.D782N MIB1_ENST00000578646.1_3'UTR NM_020774.2 NP_065825.1 Q86YT6 MIB1_HUMAN mindbomb E3 ubiquitin protein ligase 1 782 Notch signaling pathway centrosome|nuclear membrane|plasma membrane ubiquitin-protein ligase activity|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5) 27 STAD - Stomach adenocarcinoma(5;0.212) TCTCTGTCCTGATCCGAATCT 0.393000 21 55 0 0 1 0 0 TIGD5 84948 broad.mit.edu 37 8 144681737 144681737 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:144681737C>T ENST00000321385.3 + 1 1664 c.1517C>T c.(1516-1518)cCt>cTt p.P506L TIGD5_ENST00000504548.2_Missense_Mutation_p.P555L E7EWS2 E7EWS2_HUMAN tigger transposable element derived 5 555 regulation of transcription, DNA-dependent chromosome, centromeric region DNA binding NS(1)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1) 7 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239) GCCCTGCCCCCTGCAGCGCCT 0.716000 3 11 0 0 1 0 0 EPHA5 2044 broad.mit.edu 37 4 66218798 66218798 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr4:66218798C>G ENST00000273854.3 - 13 2860 c.2260G>C c.(2260-2262)Gag>Cag p.E754Q EPHA5_ENST00000354839.4_Missense_Mutation_p.E732Q|EPHA5_ENST00000432638.2_Missense_Mutation_p.E591Q|EPHA5_ENST00000511294.1_Missense_Mutation_p.E755Q NM_001281765.1|NM_004439.5 NP_001268694.1|NP_004430.4 P54756 EPHA5_HUMAN EPH receptor A5 754 Protein kinase. cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 142 TCCATATACTCTGTCACGATC 0.358000 TSP Lung(17;0.13) 14 26 0 0 1 0 0 BRIP1 83990 broad.mit.edu 37 17 59770842 59770842 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:59770842G>C ENST00000259008.2 - 18 2791 c.2524C>G c.(2524-2526)Ctt>Gtt p.L842V BRIP1_ENST00000577598.1_Missense_Mutation_p.L842V NM_032043.2 NP_114432.2 Q9BX63 FANCJ_HUMAN BRCA1 interacting protein C-terminal helicase 1 842 DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6) 55 ACTAGAATAAGAGCTCCCCAA 0.353000 """F, N, Mis""" """AML, leukemia, breast""" Involved in tolerance or repair of DNA crosslinks 17 44 0 0 1 0 0 ZNF281 23528 broad.mit.edu 37 1 200377314 200377314 + Nonsense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:200377314G>C ENST00000294740.3 - 2 1644 c.1520C>G c.(1519-1521)tCa>tGa p.S507* ZNF281_ENST00000367352.3_Nonsense_Mutation_p.S471*|ZNF281_ENST00000367353.1_Nonsense_Mutation_p.S507* NM_001281293.1|NM_001281294.1|NM_012482.4 NP_001268222.1|NP_001268223.1|NP_036614.1 Q9Y2X9 ZN281_HUMAN zinc finger protein 281 negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 27 ACTATTATTTGATACTATGCC 0.373000 26 44 0 0 1 0 0 SHPRH 257218 broad.mit.edu 37 6 146275900 146275900 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:146275900C>G ENST00000367503.3 - 2 957 c.559G>C c.(559-561)Gaa>Caa p.E187Q SHPRH_ENST00000438092.2_Missense_Mutation_p.E187Q|SHPRH_ENST00000275233.7_Missense_Mutation_p.E187Q|SHPRH_ENST00000367505.2_Missense_Mutation_p.E187Q NM_001042683.2 NP_001036148.2 Q149N8 SHPRH_HUMAN SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase 187 DNA repair|nucleosome assembly nucleosome|nucleus ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1) 79 Ovarian(120;0.0365) OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124) CCCAAATCTTCTAACATTTCA 0.363000 15 70 0 0 1 0 0 SGMS2 166929 broad.mit.edu 37 4 108820810 108820810 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr4:108820810C>T ENST00000394684.4 + 4 1092 c.535C>T c.(535-537)Cta>Tta p.L179L SGMS2_ENST00000394686.3_Silent_p.L179L|RP11-286E11.1_ENST00000513071.1_RNA|RP11-286E11.1_ENST00000499098.1_RNA|SGMS2_ENST00000359079.4_Silent_p.L179L NM_001136258.1 NP_001129730.1 Q8NHU3 SMS2_HUMAN sphingomyelin synthase 2 179 sphingomyelin biosynthetic process integral to Golgi membrane|integral to plasma membrane ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity central_nervous_system(1)|endometrium(2)|large_intestine(8)|liver(2)|lung(6)|prostate(1) 20 OV - Ovarian serous cystadenocarcinoma(123;2.95e-05) Choline(DB00122) TGTTACTACTCTACCTGTGCC 0.398000 25 81 0 0 1 0 0 LGI4 163175 broad.mit.edu 37 19 35616111 35616111 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:35616111C>G ENST00000310123.3 - 9 2119 c.1600G>C c.(1600-1602)Gac>Cac p.D534H LGI4_ENST00000392225.3_3'UTR|LGI4_ENST00000493050.1_5'UTR NM_139284.2 NP_644813.1 Q8N135 LGI4_HUMAN leucine-rich repeat LGI family, member 4 534 extracellular region endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162) Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849) GCACTGAGGTCGATCTCGTGA 0.647000 18 58 0 0 1 0 0 TBC1D12 23232 broad.mit.edu 37 10 96162370 96162370 + Translation_Start_Site SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:96162370G>A ENST00000225235.4 + 0 110 NM_015188.1 NP_056003.1 O60347 TBC12_HUMAN TBC1 domain family, member 12 intracellular Rab GTPase activator activity breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2) 20 Colorectal(252;0.0429) CCCACCCCCAGATGGTGGGTC 0.697000 23 37 0 0 1 0 0 ZFHX3 463 broad.mit.edu 37 16 72828402 72828402 + Nonsense_Mutation SNP C C A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr16:72828402C>A ENST00000268489.5 - 9 8851 c.8179G>T c.(8179-8181)Gag>Tag p.E2727* ZFHX3_ENST00000397992.5_Nonsense_Mutation_p.E1813* NM_006885.3 NP_008816.3 Q15911 ZFHX3_HUMAN zinc finger homeobox 3 2727 muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation transcription factor complex enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11) 153 Ovarian(137;0.13) ATATGAGCCTCAAGAGCAGTC 0.562000 26 87 9.90768e-06 1.01407e-05 1 1 0 BLOC1S5-TXNDC5 100526836 broad.mit.edu 37 6 8041426 8041426 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:8041426G>A ENST00000439343.2 - 3 258 c.259C>T c.(259-261)Ctt>Ttt p.L87F EEF1E1-BLOC1S5_ENST00000397456.2_3'UTR|BLOC1S5_ENST00000543936.1_Missense_Mutation_p.L27F|BLOC1S5_ENST00000397457.2_Missense_Mutation_p.L91F CATTTGGGAAGAGTATGTTCA 0.368000 28 77 0 0 1 0 0 PODN 127435 broad.mit.edu 37 1 53540288 53540288 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:53540288G>C ENST00000371500.3 + 6 845 c.504G>C c.(502-504)gaG>gaC p.E168D PODN_ENST00000395871.2_Intron|PODN_ENST00000312553.5_Missense_Mutation_p.E187D|RP11-334A14.5_ENST00000447867.1_RNA NM_001199080.1 NP_001186009.1 Q7Z5L7 PODN_HUMAN podocan 139 negative regulation of cell migration|negative regulation of cell proliferation cytoplasm|extracellular space|proteinaceous extracellular matrix collagen binding breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 GGCTCCCAGAGAAGGCGTTTG 0.607000 62 212 0 0 1 0 0 KIF13A 63971 broad.mit.edu 37 6 17781078 17781078 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:17781078G>A ENST00000378814.5 - 30 3689 c.3690C>T c.(3688-3690)gtC>gtT p.V1230V KIF13A_ENST00000259711.6_Silent_p.V1243V|KIF13A_ENST00000378843.2_Silent_p.V1230V|KIF13A_ENST00000378816.5_Silent_p.V1243V|KIF13A_ENST00000378826.2_Silent_p.V1243V NM_001105568.2 NP_001099038.1 Q9H1H9 KI13A_HUMAN kinesin family member 13A 1243 cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane ATP binding|microtubule motor activity|protein binding breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 64 Breast(50;0.0107)|Ovarian(93;0.016) all_hematologic(90;0.125) all cancers(50;0.0865)|Epithelial(50;0.0974) TCTGTGGTGTGACCCTATTCA 0.448000 18 54 0 0 1 0 0 GLUD1 2746 broad.mit.edu 37 10 88822583 88822583 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:88822583C>T ENST00000277865.4 - 6 847 c.751G>A c.(751-753)Gca>Aca p.A251T GLUD1_ENST00000537649.1_Missense_Mutation_p.A84T|GLUD1_ENST00000544149.1_Missense_Mutation_p.A118T NM_005271.3 NP_005262.1 P00367 DHE3_HUMAN glutamate dehydrogenase 1 251 glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion mitochondrial matrix ADP binding|ATP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|identical protein binding|leucine binding|NAD+ binding endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1) 22 L-Glutamic Acid(DB00142)|NADH(DB00157) CAGGCGTGTGCATTAATATCC 0.418000 7 25 0 0 1 0 0 PWP2 5822 broad.mit.edu 37 21 45548494 45548494 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr21:45548494G>A ENST00000291576.7 + 20 2699 c.2572G>A c.(2572-2574)Gac>Aac p.D858N NM_005049.2 NP_005040.2 Q15269 PWP2_HUMAN PWP2 periodic tryptophan protein homolog (yeast) 858 cytoplasm|nucleolus signal transducer activity cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1) 21 STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2) GCACCTGGACGACCTGTCGAA 0.632000 8 36 0 0 1 0 0 CYP4F2 8529 broad.mit.edu 37 19 16000358 16000358 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:16000358C>T ENST00000221700.6 - 7 888 c.793G>A c.(793-795)Gac>Aac p.D265N CYP4F2_ENST00000011989.7_Missense_Mutation_p.D116N NM_001082.3 NP_001073.3 P78329 CP4F2_HUMAN cytochrome P450, family 4, subfamily F, polypeptide 2 leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 TCTGTGAAGTCGTGCACCAGG 0.547000 68 156 0 0 1 0 0 TMEM63B 55362 broad.mit.edu 37 6 44104156 44104156 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:44104156G>C ENST00000259746.9 + 5 532 c.349G>C c.(349-351)Gac>Cac p.D117H TMEM63B_ENST00000323267.6_Missense_Mutation_p.D117H Q5T3F8 TM63B_HUMAN transmembrane protein 63B 117 integral to membrane nucleotide binding|protein binding breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4) 35 all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273) Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215) CAGCTCCGTTGACTTTGACCA 0.577000 18 54 0 0 1 0 0 CDC6 990 broad.mit.edu 37 17 38449865 38449865 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:38449865C>T ENST00000209728.4 + 5 1289 c.818C>T c.(817-819)gCa>gTa p.A273V NM_001254.3 NP_001245.1 Q99741 CDC6_HUMAN cell division cycle 6 273 cell division|DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|mitosis|negative regulation of cell proliferation|negative regulation of DNA replication|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle cytosol|nucleoplasm|spindle midzone|spindle pole ATP binding|kinase binding|nucleoside-triphosphatase activity breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1) 21 CATATGACTGCAGAGAAGGGC 0.428000 12 34 0 0 1 0 0 EPAS1 2034 broad.mit.edu 37 2 46609643 46609643 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:46609643C>T ENST00000263734.3 + 15 2877 c.2367C>T c.(2365-2367)atC>atT p.I789I NM_001430.4 NP_001421.2 Q99814 EPAS1_HUMAN endothelial PAS domain protein 1 789 angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia transcription factor complex histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18) LUSC - Lung squamous cell carcinoma(58;0.151) CATCTGCCATCAGTCCCGGGG 0.592000 36 137 0 0 1 0 0 RTN1 6252 broad.mit.edu 37 14 60193729 60193729 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:60193729G>A ENST00000267484.5 - 3 2008 c.1673C>T c.(1672-1674)tCg>tTg p.S558L NM_021136.2 NP_066959.1 Q16799 RTN1_HUMAN reticulon 1 558 neuron differentiation integral to endoplasmic reticulum membrane signal transducer activity central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 49 OV - Ovarian serous cystadenocarcinoma(108;0.0968) GTTGGAACTCGAGTCTTCTTC 0.622000 9 38 0 0 1 0 0 ZNF639 51193 broad.mit.edu 37 3 179050806 179050806 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:179050806G>A ENST00000326361.3 + 6 644 c.199G>A c.(199-201)Gac>Aac p.D67N ZNF639_ENST00000484866.1_Missense_Mutation_p.D67N|ZNF639_ENST00000466663.1_3'UTR|ZNF639_ENST00000496856.1_Missense_Mutation_p.D67N NM_016331.1 NP_057415.1 Q9UID6 ZN639_HUMAN zinc finger protein 639 67 initiation of viral infection|negative regulation by host of viral transcription|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of cell growth|positive regulation of transcription, DNA-dependent nucleus protein self-association|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(10)|urinary_tract(1) 16 all_cancers(143;7.9e-17)|Ovarian(172;0.0172)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0923) gacgtcaaatgacttgccaaa 0.363000 2 1 0 0 1 0 0 VPS9D1 9605 broad.mit.edu 37 16 89777028 89777028 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr16:89777028C>T ENST00000561976.1 - 9 1391 c.1014G>A c.(1012-1014)ctG>ctA p.L338L VPS9D1_ENST00000389386.3_Silent_p.L408L VPS9 domain containing 1 CCGCGGTCTTCAGCTGCTGCA 0.657000 15 40 0 0 1 0 0 ZNF484 83744 broad.mit.edu 37 9 95610035 95610035 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:95610035C>T ENST00000395505.2 - 3 1018 c.926G>A c.(925-927)aGa>aAa p.R309K ZNF484_ENST00000332591.6_Missense_Mutation_p.R309K|ZNF484_ENST00000395506.3_Missense_Mutation_p.R347K|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000375495.3_Missense_Mutation_p.R345K NM_001261459.1|NM_001261460.1 NP_001248388.1|NP_001248389.1 Q5JVG2 ZN484_HUMAN zinc finger protein 484 345 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2) 33 TCTCTGGCATCTGAACAGATC 0.363000 15 47 0 0 1 0 0 SYT16 83851 broad.mit.edu 37 14 62463153 62463153 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:62463153C>G ENST00000430451.2 + 1 613 c.416C>G c.(415-417)tCt>tGt p.S139C SYT16_ENST00000446982.2_Missense_Mutation_p.S139C NM_031914.2 NP_114120.2 Q17RD7 SYT16_HUMAN synaptotagmin XVI 139 central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 35 OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118) GTGCTTTCTTCTATTGCGGAG 0.478000 39 119 0 0 1 0 0 PEX5L 51555 broad.mit.edu 37 3 179533669 179533669 + Nonsense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:179533669G>A ENST00000467460.1 - 10 1393 c.1063C>T c.(1063-1065)Cag>Tag p.Q355* PEX5L_ENST00000476138.1_Nonsense_Mutation_p.Q312*|PEX5L_ENST00000485199.1_Nonsense_Mutation_p.Q320*|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000464614.1_Nonsense_Mutation_p.Q247*|PEX5L_ENST00000392649.3_Nonsense_Mutation_p.Q247*|PEX5L_ENST00000263962.8_Nonsense_Mutation_p.Q353*|PEX5L_ENST00000468741.1_Nonsense_Mutation_p.Q163*|PEX5L_ENST00000465751.1_Nonsense_Mutation_p.Q331*|PEX5L_ENST00000472994.1_Nonsense_Mutation_p.Q296* NM_001256751.1|NM_016559.2 NP_001243680.1|NP_057643.1 Q8IYB4 PEX5R_HUMAN peroxisomal biogenesis factor 5-like 355 protein import into peroxisome matrix|regulation of cAMP-mediated signaling cytosol|peroxisomal membrane peroxisome matrix targeting signal-1 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183) OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518) CCAGGGTCCTGAAGAATTGCT 0.507000 20 68 0 0 1 0 0 POTEA 340441 broad.mit.edu 37 8 43147757 43147757 + RNA SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:43147757G>A ENST00000522175.2 + 0 132 Q6S8J7 POTEA_HUMAN POTE ankyrin domain family, member A breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 GAACAACATGGGTGCTTGGAG 0.602000 41 113 0 0 1 0 0 CDCP1 64866 broad.mit.edu 37 3 45153662 45153662 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:45153662C>G ENST00000296129.1 - 3 702 c.568G>C c.(568-570)Gaa>Caa p.E190Q CDCP1_ENST00000425231.2_Missense_Mutation_p.E190Q NM_022842.3 NP_073753.3 Q9H5V8 CDCP1_HUMAN CUB domain containing protein 1 190 extracellular region|integral to membrane|plasma membrane central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1) 29 BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651) TTCACTCCTTCTTGCATCTTG 0.537000 41 104 0 0 1 0 0 PTPRD 5789 broad.mit.edu 37 9 8484270 8484270 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:8484270G>A ENST00000381196.4 - 27 3805 c.3262C>T c.(3262-3264)Cgt>Tgt p.R1088C PTPRD_ENST00000540109.1_Missense_Mutation_p.R1088C|PTPRD_ENST00000356435.5_Missense_Mutation_p.R1088C|PTPRD_ENST00000537002.1_Missense_Mutation_p.R674C|PTPRD_ENST00000397611.3_Missense_Mutation_p.R674C|PTPRD_ENST00000397606.3_Missense_Mutation_p.R667C|PTPRD_ENST00000360074.4_Missense_Mutation_p.R1075C|PTPRD_ENST00000358503.5_Missense_Mutation_p.R1066C|PTPRD_ENST00000355233.5_Missense_Mutation_p.R677C|PTPRD_ENST00000486161.1_Missense_Mutation_p.R677C|PTPRD_ENST00000397617.3_Missense_Mutation_p.R667C NM_002839.3 NP_002830.1 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1088 Fibronectin type-III 8. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 168 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) CTGTTTCCACGATTTGTCAGC 0.478000 TSP Lung(15;0.13) 20 65 0 0 1 0 0 SNX16 64089 broad.mit.edu 37 8 82714735 82714735 + Splice_Site SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:82714735C>G ENST00000396330.2 - 8 1325 c.e8-1 SNX16_ENST00000353788.4_Splice_Site|RP13-923O23.6_ENST00000524337.1_RNA|SNX16_ENST00000345957.4_Splice_Site NM_022133.3 NP_071416.2 P57768 SNX16_HUMAN sorting nexin 16 cell communication|early endosome to late endosome transport|endosome to lysosome transport|protein targeting to lysosome early endosome membrane|extrinsic to endosome membrane|late endosome membrane|lysosome identical protein binding|phosphatidylinositol binding large_intestine(1)|ovary(1)|pancreas(1)|skin(2) 5 AGACAATGTTCTAAAAGTATG 0.368000 5 21 0 0 1 0 0 BTBD10 84280 broad.mit.edu 37 11 13427306 13427306 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:13427306C>G ENST00000278174.5 - 7 1151 c.906G>C c.(904-906)caG>caC p.Q302H BTBD10_ENST00000528120.1_Missense_Mutation_p.Q254H|BTBD10_ENST00000530907.1_Missense_Mutation_p.Q310H NM_032320.5 NP_115696.2 Q9BSF8 BTBDA_HUMAN BTB (POZ) domain containing 10 302 nucleus cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1) 20 Epithelial(150;0.0214) GTTCCCCACTCTGGGCACTAG 0.428000 44 117 0 0 1 0 0 OR51D1 390038 broad.mit.edu 37 11 4661773 4661773 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:4661773C>G ENST00000357605.2 + 1 829 c.753C>G c.(751-753)ttC>ttG p.F251L NM_001004751.2 NP_001004751.1 Q8NGF3 O51D1_HUMAN olfactory receptor, family 51, subfamily D, member 1 251 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1) 27 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19) TCAAGGCTTTCAACACCTGCA 0.557000 33 94 0 0 1 0 0 SKAP1 8631 broad.mit.edu 37 17 46262095 46262095 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:46262095C>T ENST00000336915.6 - 7 626 c.557G>A c.(556-558)cGc>cAc p.R186H SKAP1_ENST00000584924.1_Missense_Mutation_p.R186H NM_001075099.1|NM_003726.3 NP_001068567.1|NP_003717.3 Q86WV1 SKAP1_HUMAN src kinase associated phosphoprotein 1 186 PH. positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway cytoplasm|nucleus|plasma membrane antigen binding|protein kinase binding|SH2 domain binding large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1) 18 CTCATAGCTGCGCCTATCCTG 0.522000 60 136 0 0 1 0 0 JAKMIP3 282973 broad.mit.edu 37 10 133918366 133918366 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:133918366C>T ENST00000298622.4 + 1 192 c.54C>T c.(52-54)ctC>ctT p.L18L NM_001105521.2 NP_001098991.1 Janus kinase and microtubule interacting protein 3 breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2) 31 all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175) OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224) CAGAGGCCCTCGCGGCGCTGC 0.667000 3 6 0 0 1 0 0 DOCK9 23348 broad.mit.edu 37 13 99520266 99520266 + Splice_Site SNP C C A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr13:99520266C>A ENST00000376460.1 - 29 3171 c.e29-1 DOCK9_ENST00000442173.1_Splice_Site|DOCK9_ENST00000448493.2_Splice_Site|DOCK9_ENST00000339416.2_Splice_Site NM_001130048.1|NM_015296.2 NP_001123520.1|NP_056111.1 Q9BZ29 DOCK9_HUMAN dedicator of cytokinesis 9 blood coagulation cytosol|endomembrane system|membrane GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 59 all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) TGAAACATCTCTGTGGAGGAA 0.408000 4 19 0.0215528 0.0216805 1 1 0 TDG 6996 broad.mit.edu 37 12 104377149 104377149 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:104377149G>C ENST00000392872.3 + 7 1008 c.774G>C c.(772-774)aaG>aaC p.K258N TDG_ENST00000544861.1_Missense_Mutation_p.K115N|TDG_ENST00000266775.9_Missense_Mutation_p.K254N|TDG_ENST00000542036.1_Missense_Mutation_p.K54N NM_003211.4 NP_003202.3 Q13569 TDG_HUMAN thymine-DNA glycosylase 258 depyrimidination|mismatch repair nucleoplasm damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 24 BRCA - Breast invasive adenocarcinoma(302;0.00114) AGCCCCATAAGATTCCAGACA 0.289000 Base excision repair (BER), DNA glycosylases 7 49 0 0 1 0 0 ZBED1 9189 broad.mit.edu 37 X 2406874 2406874 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chrX:2406874G>A ENST00000381223.4 - 2 2090 c.1887C>T c.(1885-1887)gtC>gtT p.V629V DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381222.2_Silent_p.V629V|ZBED1_ENST00000515319.1_5'UTR|ZBED1_ENST00000381218.3_Silent_p.V629V NM_001171135.1|NM_001171136.1|NM_004729.3 NP_001164606.1|NP_001164607.1|NP_004720.1 O96006 ZBED1_HUMAN zinc finger, BED-type containing 1 629 nuclear chromosome DNA binding|metal ion binding|protein dimerization activity|transposase activity endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1) 25 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) TCTTGGCGCTGACCACGTTGG 0.677000 86 217 0 0 1 0 0 EPHA5 2044 broad.mit.edu 37 4 66231707 66231707 + Nonsense_Mutation SNP C C A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr4:66231707C>A ENST00000273854.3 - 11 2593 c.1993G>T c.(1993-1995)Gaa>Taa p.E665* EPHA5_ENST00000354839.4_Nonsense_Mutation_p.E643*|EPHA5_ENST00000432638.2_Nonsense_Mutation_p.E502*|EPHA5_ENST00000511294.1_Nonsense_Mutation_p.E666* NM_001281765.1|NM_004439.5 NP_001268694.1|NP_004430.4 P54756 EPHA5_HUMAN EPH receptor A5 665 cAMP-mediated signaling|neuron development dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum ATP binding|transmembrane-ephrin receptor activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 142 TTAGCAAATTCGTGGACAGCT 0.363000 TSP Lung(17;0.13) 21 66 1.2644e-06 1.30596e-06 1 1 0 ANAPC5 51433 broad.mit.edu 37 12 121757561 121757561 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:121757561G>A ENST00000261819.3 - 13 1697 c.1576C>T c.(1576-1578)Cat>Tat p.H526Y ANAPC5_ENST00000541887.1_Missense_Mutation_p.H513Y|ANAPC5_ENST00000441917.2_Missense_Mutation_p.H414Y|ANAPC5_ENST00000344395.4_Missense_Mutation_p.H414Y|ANAPC5_ENST00000535482.1_Missense_Mutation_p.H192Y|ANAPC5_ENST00000544314.1_5'UTR NM_016237.4 NP_057321.2 Q9UJX4 APC5_HUMAN anaphase promoting complex subunit 5 526 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm protein phosphatase binding|ubiquitin-protein ligase activity breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3) 31 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) TCAGCCAAATGATATTTGCCA 0.333000 9 16 0 0 1 0 0 ZMYM3 9203 broad.mit.edu 37 X 70465551 70465551 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chrX:70465551C>T ENST00000373998.1 - 17 3488 c.2791G>A c.(2791-2793)Gag>Aag p.E931K ZMYM3_ENST00000373984.3_Missense_Mutation_p.E945K|ZMYM3_ENST00000373988.1_Missense_Mutation_p.E945K|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000314425.5_Missense_Mutation_p.E943K|ZMYM3_ENST00000353904.2_Missense_Mutation_p.E943K NM_001171162.1 NP_001164633.1 Q14202 ZMYM3_HUMAN zinc finger, MYM-type 3 943 multicellular organismal development nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1) 64 Renal(35;0.156) TCTAACTCCTCAGCCTCTGCA 0.547000 10 12 0 0 1 0 0 DDX52 11056 broad.mit.edu 37 17 36003428 36003428 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:36003428G>A ENST00000349699.2 - 1 65 c.22C>T c.(22-24)Cgc>Tgc p.R8C DDX52_ENST00000394367.3_5'UTR|RP11-697E22.2_ENST00000586163.1_RNA NM_007010.3 NP_008941.2 Q9Y2R4 DDX52_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 52 8 nucleolus ATP binding|ATP-dependent helicase activity|RNA binding biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3) 17 Breast(25;0.00637)|Ovarian(249;0.15) CCGAGCCGGCGAAAGAGATCG 0.637000 12 66 0 0 1 0 0 SH3KBP1 30011 broad.mit.edu 37 X 19713821 19713821 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chrX:19713821C>G ENST00000397821.3 - 5 719 c.429G>C c.(427-429)aaG>aaC p.K143N SH3KBP1_ENST00000379697.3_Missense_Mutation_p.K143N|SH3KBP1_ENST00000379698.4_Missense_Mutation_p.K106N NM_031892.2 NP_114098.1 Q96B97 SH3K1_HUMAN SH3-domain kinase binding protein 1 143 SH3 2. apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome SH3 domain binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4) 29 ACATTCCAGTCTTCCCGTTGA 0.483000 31 37 0 0 1 0 0 WIPI1 55062 broad.mit.edu 37 17 66423333 66423333 + Nonsense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:66423333G>A ENST00000262139.5 - 11 1134 c.1135C>T c.(1135-1137)Cag>Tag p.Q379* WIPI1_ENST00000589459.1_5'UTR|RP11-120M18.2_ENST00000592030.1_RNA|WIPI1_ENST00000546360.1_Nonsense_Mutation_p.Q297* NM_017983.5 NP_060453.3 Q5MNZ9 WIPI1_HUMAN WD repeat domain, phosphoinositide interacting 1 379 macroautophagy|vesicle targeting, trans-Golgi to endosome autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1) 18 GCATAAGACTGAGGTAAGGAA 0.502000 21 86 0 0 1 0 0 PLEC 5339 broad.mit.edu 37 8 145004382 145004382 + Nonsense_Mutation SNP C C A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:145004382C>A ENST00000322810.4 - 21 3122 c.2953G>T c.(2953-2955)Gag>Tag p.E985* PLEC_ENST00000354958.2_Nonsense_Mutation_p.E826*|PLEC_ENST00000354589.3_Nonsense_Mutation_p.E848*|PLEC_ENST00000398774.2_Nonsense_Mutation_p.E816*|PLEC_ENST00000356346.3_Nonsense_Mutation_p.E834*|PLEC_ENST00000436759.2_Nonsense_Mutation_p.E875*|PLEC_ENST00000357649.2_Nonsense_Mutation_p.E852*|PLEC_ENST00000345136.3_Nonsense_Mutation_p.E848*|PLEC_ENST00000527096.1_Nonsense_Mutation_p.E871* NM_201380.2 NP_958782.1 Q15149 PLEC_HUMAN plectin 985 Globular 1. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10) 137 ACGGCGGCCTCGCTGCCGGAG 0.716000 5 13 0.184627 0.184845 1 1 0 ABCA13 154664 broad.mit.edu 37 7 48273724 48273724 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:48273724G>A ENST00000435803.1 + 8 897 c.873G>A c.(871-873)ctG>ctA p.L291L NM_152701.3 NP_689914.2 Q86UQ4 ABCAD_HUMAN ATP-binding cassette, sub-family A (ABC1), member 13 291 transport integral to membrane ATP binding|ATPase activity breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4) 270 AACAGATCCTGAACTCTTCAG 0.502000 26 78 0 0 1 0 0 GRAMD1C 54762 broad.mit.edu 37 3 113627832 113627832 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:113627832G>A ENST00000358160.4 + 9 1309 c.817G>A c.(817-819)Gag>Aag p.E273K GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000472026.1_Missense_Mutation_p.E106K|GRAMD1C_ENST00000452134.2_5'UTR|GRAMD1C_ENST00000440446.2_Missense_Mutation_p.E68K NM_017577.4 NP_060047.3 Q8IYS0 GRM1C_HUMAN GRAM domain containing 1C 273 integral to membrane NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3) 26 GTCCCAAAATGAGAAACAGAC 0.338000 12 29 0 0 1 0 0 MAP7D1 55700 broad.mit.edu 37 1 36641826 36641826 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:36641826G>C ENST00000316156.4 + 6 1219 c.766G>C c.(766-768)Gag>Cag p.E256Q MAP7D1_ENST00000474796.1_3'UTR|MAP7D1_ENST00000373151.2_Missense_Mutation_p.E293Q|MAP7D1_ENST00000373150.4_Missense_Mutation_p.E293Q Q3KQU3 MA7D1_HUMAN MAP7 domain containing 1 293 cytoplasm|spindle breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1) 19 Myeloproliferative disorder(586;0.0393) GAGCGCATGGGAGAGCAGCAT 0.667000 9 53 0 0 1 0 0 NDUFB9 4715 broad.mit.edu 37 8 125555347 125555347 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:125555347G>C ENST00000522532.1 + 2 168 c.121G>C c.(121-123)Gct>Cct p.A41P NDUFB9_ENST00000518008.1_Missense_Mutation_p.A41P|NDUFB9_ENST00000517367.1_Intron|NDUFB9_ENST00000276689.3_Missense_Mutation_p.A41P Q9Y6M9 NDUB9_HUMAN NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa 41 mitochondrial electron transport, NADH to ubiquinone|sensory perception of sound|transport mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1) 8 Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108) STAD - Stomach adenocarcinoma(47;0.00288) NADH(DB00157) CCGATACTTTGCTTGTTTGAT 0.448000 15 67 0 0 1 0 0 XYLB 9942 broad.mit.edu 37 3 38404477 38404477 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:38404477C>T ENST00000207870.3 + 4 350 c.260C>T c.(259-261)tCt>tTt p.S87F XYLB_ENST00000542835.1_Intron NM_005108.3 NP_005099.2 O75191 XYLB_HUMAN xylulokinase homolog (H. influenzae) 87 D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process ATP binding|xylulokinase activity endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1) 24 KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405) TTCGACTTCTCTCAAGTCCTA 0.522000 20 90 0 0 1 0 0 EP300 2033 broad.mit.edu 37 22 41547924 41547924 + Nonsense_Mutation SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr22:41547924G>T ENST00000263253.7 + 15 4124 c.2905G>T c.(2905-2907)Gag>Tag p.E969* NM_001429.3 NP_001420.2 Q09472 EP300_HUMAN E1A binding protein p300 969 apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16) 171 GGCCATTGCTGAGAAGCAGCC 0.483000 """T, N, F, Mis, O""" """MLL, RUNXBP2""" """colorectal, breast, pancreatic, AML, ALL, DLBCL""" Rubinstein-Taybi syndrome 28 101 2.41591e-17 2.56398e-17 1 1 0 EML1 2009 broad.mit.edu 37 14 100405640 100405640 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:100405640C>G ENST00000262233.6 + 21 2437 c.2298C>G c.(2296-2298)ttC>ttG p.F766L EML1_ENST00000327921.9_Missense_Mutation_p.F754L|EML1_ENST00000334192.4_Missense_Mutation_p.F785L NM_004434.2 NP_004425.2 O00423 EMAL1_HUMAN echinoderm microtubule associated protein like 1 766 cytoplasm|microtubule|microtubule associated complex calcium ion binding|protein binding p.F785L(1) breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 42 Melanoma(154;0.0879)|all_epithelial(191;0.216) TGCACCTCTTCTCATACCCCT 0.537000 20 67 0 0 1 0 0 DCHS2 54798 broad.mit.edu 37 4 155180751 155180751 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr4:155180751G>A ENST00000357232.4 - 20 5369 c.5370C>T c.(5368-5370)agC>agT p.S1790S NM_017639.3 NP_060109.2 Q6V1P9 PCD23_HUMAN dachsous cadherin-related 2 Cadherin 16. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 176 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) CCTGGTAAATGCTTTGTTCAA 0.408000 11 146 0 0 1 0 0 LAMB3 3914 broad.mit.edu 37 1 209805953 209805953 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:209805953G>A ENST00000391911.1 - 7 1186 c.797C>T c.(796-798)tCt>tTt p.S266F LAMB3_ENST00000356082.4_Missense_Mutation_p.S266F|LAMB3_ENST00000367030.3_Missense_Mutation_p.S266F NM_001017402.1 NP_001017402.1 Q13751 LAMB3_HUMAN laminin, beta 3 266 Laminin EGF-like 1. cell adhesion|epidermis development|hemidesmosome assembly structural molecule activity NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 OV - Ovarian serous cystadenocarcinoma(81;0.0519) GGGGCCTGCAGAGGCCCCAGG 0.652000 24 53 0 0 1 0 0 NBPF3 84224 broad.mit.edu 37 1 21795329 21795329 + Silent SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:21795329C>G ENST00000318220.6 + 6 1162 c.114C>G c.(112-114)ctC>ctG p.L38L NBPF3_ENST00000454000.2_Intron|NBPF3_ENST00000318249.5_Silent_p.L94L|NBPF3_ENST00000342104.5_Silent_p.L94L Q9H094 NBPF3_HUMAN neuroblastoma breakpoint family, member 3 94 cytoplasm p.L94L(1) breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2) 20 all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199) TCAGAAACCTCAAACAGAAAT 0.473000 OREG0013205 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 36 128 0 0 1 0 0 MSH3 4437 broad.mit.edu 37 5 79970869 79970869 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:79970869C>T ENST00000265081.6 + 7 1175 c.1095C>T c.(1093-1095)acC>acT p.T365T NM_002439.4 NP_002430.3 P20585 MSH3_HUMAN mutS homolog 3 365 maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments MutSbeta complex|nuclear chromosome ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244) OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33) ATACTTCTACCAGCTATCTTC 0.328000 Mismatch excision repair (MMR) 22 65 0 0 1 0 0 NAALADL1 10004 broad.mit.edu 37 11 64821987 64821987 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:64821987G>A ENST00000358658.3 - 5 854 c.827C>T c.(826-828)tCc>tTc p.S276F NAALADL1_ENST00000340252.4_Missense_Mutation_p.S276F|NAALADL1_ENST00000355721.3_Missense_Mutation_p.S235F|NAALADL1_ENST00000339885.2_Missense_Mutation_p.S276F|NAALADL1_ENST00000356632.3_Missense_Mutation_p.S276F|NAALADL1_ENST00000355369.2_Missense_Mutation_p.S276F NM_005468.2 NP_005459.2 Q9UQQ1 NALDL_HUMAN N-acetylated alpha-linked acidic dipeptidase-like 1 276 NAALADase. proteolysis apical plasma membrane|integral to membrane carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2) 29 GGGAAATCCGGAGACATTGGC 0.597000 10 35 0 0 1 0 0 SLC34A3 142680 broad.mit.edu 37 9 140130619 140130619 + Silent SNP C C T rs139559169 TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:140130619C>T ENST00000538474.1 + 13 1775 c.1551C>T c.(1549-1551)gtC>gtT p.V517V SLC34A3_ENST00000361134.2_Silent_p.V517V NM_001177316.1|NM_001177317.1 NP_001170787|NP_001170788 Q8N130 NPT2C_HUMAN solute carrier family 34 (type II sodium/phosphate contransporter), member 3 517 cellular phosphate ion homeostasis apical plasma membrane|integral to membrane sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 13 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0698) OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057) TGGCCGCTGTCGGGGGTCCCC 0.726000 OREG0019630 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 31 0 0 1 0 0 ERAP2 64167 broad.mit.edu 37 5 96237258 96237258 + Missense_Mutation SNP T T G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:96237258T>G ENST00000437043.3 + 11 2332 c.1621T>G c.(1621-1623)Tgg>Ggg p.W541G ERAP2_ENST00000379904.4_Missense_Mutation_p.W496G|ERAP2_ENST00000515095.1_3'UTR|CTD-2260A17.2_ENST00000501338.1_Intron NM_001130140.1|NM_022350.3 NP_001123612.1|NP_071745.1 Q6P179 ERAP2_HUMAN endoplasmic reticulum aminopeptidase 2 541 antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2) 24 all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105) COAD - Colon adenocarcinoma(37;0.0703) GATGACTACATGGACTCTCCA 0.498000 25 76 0 0 1 0 0 ELMSAN1 91748 broad.mit.edu 37 14 74203808 74203808 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:74203808C>G ENST00000286523.5 - 3 2424 c.1642G>C c.(1642-1644)Gat>Cat p.D548H ELMSAN1_ENST00000394071.2_Missense_Mutation_p.D548H NM_194278.3 NP_919254.2 ELM2 and Myb/SANT-like domain containing 1 CCGTCCTCATCAAGACCTCCA 0.607000 33 72 0 0 1 0 0 SAMD3 154075 broad.mit.edu 37 6 130535486 130535486 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:130535486G>C ENST00000532763.1 - 3 394 c.265C>G c.(265-267)Cga>Gga p.R89G SAMD3_ENST00000457563.2_Missense_Mutation_p.R113G|SAMD3_ENST00000439090.2_Missense_Mutation_p.R89G|SAMD3_ENST00000533296.1_5'UTR|SAMD3_ENST00000437477.2_Missense_Mutation_p.R89G|SAMD3_ENST00000368134.2_Missense_Mutation_p.R89G|SAMD3_ENST00000324172.6_Missense_Mutation_p.R89G Q8N6K7 SAMD3_HUMAN sterile alpha motif domain containing 3 89 breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 29 GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128) ACTCACTCTCGAGCTGCTTCT 0.423000 34 121 0 0 1 0 0 GRINA 2907 broad.mit.edu 37 8 145066917 145066917 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:145066917G>A ENST00000313269.5 + 7 1302 c.1024G>A c.(1024-1026)Gaa>Aaa p.E342K GRINA_ENST00000395068.4_Missense_Mutation_p.E342K NM_000837.1 NP_000828.1 Q7Z429 GRINA_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding) 342 integral to membrane central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1) 9 all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CCTGAGCCCAGAAGAGTATGT 0.562000 11 45 0 0 1 0 0 RASA2 5922 broad.mit.edu 37 3 141272699 141272699 + Splice_Site SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:141272699C>T ENST00000286364.3 + 6 563 c.528C>T c.(526-528)caC>caT p.H176H RASA2_ENST00000452898.1_Splice_Site_p.H176H Q15283 RASA2_HUMAN RAS p21 protein activator 2 176 C2 2. intracellular signal transduction|negative regulation of Ras protein signal transduction intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm metal ion binding|Ras GTPase activator activity NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 34 TCTACCTTAGCATCAAGGCAT 0.333000 19 62 0 0 1 0 0 NTN1 9423 broad.mit.edu 37 17 8926117 8926117 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:8926117G>A ENST00000173229.2 + 2 534 c.427G>A c.(427-429)Gaa>Aaa p.E143K NTN1_ENST00000546090.1_Missense_Mutation_p.E143K|NTN1_ENST00000538852.1_Missense_Mutation_p.E143K NM_004822.2 NP_004813.2 O95631 NET1_HUMAN netrin 1 143 Laminin N-terminal. apoptosis|axon guidance protein binding NTN1/ACLY(2) central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(5) 13 CAAGAAGTTCGAAGTGACCTA 0.607000 7 30 0 0 1 0 0 HSD17B8 7923 broad.mit.edu 37 6 33173242 33173242 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:33173242C>G ENST00000374662.3 + 4 433 c.406C>G c.(406-408)Cag>Gag p.Q136E HSD17B8_ENST00000469186.1_3'UTR NM_014234.4 NP_055049.1 Q92506 DHB8_HUMAN hydroxysteroid (17-beta) dehydrogenase 8 136 estrogen biosynthetic process|fatty acid biosynthetic process mitochondrial matrix 3-hydroxyacyl-CoA dehydrogenase activity|estradiol 17-beta-dehydrogenase activity|protein binding|testosterone 17-beta-dehydrogenase (NAD+) activity NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2) 9 NADH(DB00157) CCTAGTCACTCAGGCTGCAGC 0.572000 29 104 0 0 1 0 0 FLVCR2 55640 broad.mit.edu 37 14 76045555 76045555 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:76045555G>A ENST00000238667.4 + 1 596 c.240G>A c.(238-240)gtG>gtA p.V80V AC007182.6_ENST00000455232.1_RNA NM_017791.2 NP_060261.2 Q9UPI3 FLVC2_HUMAN feline leukemia virus subgroup C cellular receptor family, member 2 80 transmembrane transport integral to membrane|plasma membrane heme binding|heme transporter activity endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1) 15 BRCA - Breast invasive adenocarcinoma(234;0.029) TGATCAAGGTGAGCAGGCGCC 0.597000 43 141 0 0 1 0 0 STMN3 50861 broad.mit.edu 37 20 62275251 62275251 + Nonsense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr20:62275251G>C ENST00000370053.1 - 3 230 c.149C>G c.(148-150)tCa>tGa p.S50* STMN3_ENST00000540534.1_Nonsense_Mutation_p.S39* NM_001276310.1|NM_015894.2 NP_001263239.1|NP_056978.2 Q9NZ72 STMN3_HUMAN stathmin-like 3 50 cytoplasmic microtubule organization|intracellular signal transduction|negative regulation of Rac protein signal transduction|neuron projection development|regulation of cytoskeleton organization|regulation of Rac GTPase activity cytoplasm protein domain specific binding kidney(1)|large_intestine(1)|lung(5)|prostate(1) 8 all_cancers(38;2.31e-11)|all_epithelial(29;7.76e-13) Epithelial(9;1.9e-09)|all cancers(9;1.22e-08)|BRCA - Breast invasive adenocarcinoma(10;8.86e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.00559) GCTCTGGCCTGAGGCCCGCTT 0.627000 31 110 0 0 1 0 0 MYO1E 4643 broad.mit.edu 37 15 59466040 59466040 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr15:59466040C>G ENST00000288235.4 - 21 2638 c.2239G>C c.(2239-2241)Ggg>Cgg p.G747R NM_004998.3 NP_004989.2 Q12965 MYO1E_HUMAN myosin IE 747 actin filament-based movement myosin complex actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1) 33 all cancers(107;0.207) TCTTCCATCCCAATATAATCC 0.458000 55 182 0 0 1 0 0 CPSF4 10898 broad.mit.edu 37 7 99050001 99050001 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:99050001G>C ENST00000436336.2 + 6 669 c.508G>C c.(508-510)Gaa>Caa p.E170Q ATP5J2_ENST00000466753.1_Intron|PTCD1_ENST00000555673.1_Intron|CPSF4_ENST00000471455.1_3'UTR|CPSF4_ENST00000292476.5_Missense_Mutation_p.E170Q|CPSF4_ENST00000451876.1_Missense_Mutation_p.E138Q|ATP5J2-PTCD1_ENST00000413834.1_Intron|ATP5J2-PTCD1_ENST00000437572.1_Intron|CPSF4_ENST00000441580.1_Missense_Mutation_p.E117Q NM_001081559.1|NM_006693.2 NP_001075028.1|NP_006684.1 O95639 CPSF4_HUMAN cleavage and polyadenylation specific factor 4, 30kDa 170 modification by virus of host mRNA processing|mRNA processing|viral infectious cycle mRNA cleavage and polyadenylation specificity factor complex RNA binding|zinc ion binding breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(5) 14 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) CCCTCGATTTGAACTGCCCAT 0.592000 71 243 0 0 1 0 0 ARNTL2 56938 broad.mit.edu 37 12 27553558 27553558 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:27553558G>A ENST00000544915.1 + 9 1128 c.909G>A c.(907-909)aaG>aaA p.K303K ARNTL2_ENST00000546179.1_Silent_p.K300K|ARNTL2_ENST00000311001.5_Silent_p.K323K|ARNTL2_ENST00000261178.5_Silent_p.K289K|ARNTL2_ENST00000395901.2_Silent_p.K300K|ARNTL2_ENST00000542388.1_Silent_p.K252K|ARNTL2_ENST00000266503.5_Silent_p.K337K|RP11-165P7.1_ENST00000500498.2_RNA NM_020183.4 NP_064568.3 Q8WYA1 BMAL2_HUMAN aryl hydrocarbon receptor nuclear translocator-like 2 337 circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1) 21 Colorectal(261;0.0847)|Lung SC(9;0.184) GGAACAGTAAGAAAGACAACA 0.378000 23 50 0 0 1 0 0 PHLPP2 23035 broad.mit.edu 37 16 71718466 71718466 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr16:71718466G>A ENST00000393524.2 - 4 1381 c.648C>T c.(646-648)ttC>ttT p.F216F PHLPP2_ENST00000360429.3_Silent_p.F216F|PHLPP2_ENST00000568954.1_Silent_p.F216F|PHLPP2_ENST00000356272.3_Silent_p.F216F|PHLPP2_ENST00000567016.1_Silent_p.F251F Q6ZVD8 PHLP2_HUMAN PH domain and leucine rich repeat protein phosphatase 2 216 PH. cytoplasm|membrane|nucleus metal ion binding|phosphoprotein phosphatase activity central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1) 37 CTGCTGAGCTGAAAGCAAGGG 0.468000 22 77 0 0 1 0 0 CIDEA 1149 broad.mit.edu 37 18 12264384 12264384 + Missense_Mutation SNP G G C rs139948292 TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr18:12264384G>C ENST00000320477.9 + 3 327 c.262G>C c.(262-264)Gag>Cag p.E88Q CIDEA_ENST00000521296.1_3'UTR NM_001279.3 NP_001270.1 O60543 CIDEA_HUMAN cell death-inducing DFFA-like effector a 88 CIDE-N. DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis mitochondrial envelope|nucleus protein homodimerization activity central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2) 13 GGACACAGAAGAGTTCTTTCA 0.512000 19 58 0 0 1 0 0 HELB 92797 broad.mit.edu 37 12 66718772 66718772 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:66718772G>A ENST00000247815.4 + 11 2595 c.2536G>A c.(2536-2538)Gat>Aat p.D846N NM_033647.3 NP_387467.2 Q8NG08 HELB_HUMAN helicase (DNA) B 846 DNA replication, synthesis of RNA primer ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 40 GBM - Glioblastoma multiforme(2;0.000142) GBM - Glioblastoma multiforme(28;0.0265) GGATGTAACTGATGTAACTTT 0.328000 18 56 0 0 1 0 0 TANC1 85461 broad.mit.edu 37 2 160050816 160050816 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:160050816G>A ENST00000263635.6 + 17 3028 c.2791G>A c.(2791-2793)Gaa>Aaa p.E931K TANC1_ENST00000454300.1_Missense_Mutation_p.E825K NM_001145909.1|NM_033394.2 NP_001139381.1|NP_203752.2 Q9C0D5 TANC1_HUMAN tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 931 cell junction|postsynaptic density|postsynaptic membrane binding breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2) 77 CTACAGGACAGAAGTGTTAAA 0.517000 24 87 0 0 1 0 0 DUT 1854 broad.mit.edu 37 15 48623792 48623792 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr15:48623792G>C ENST00000331200.3 + 1 173 c.80G>C c.(79-81)cGa>cCa p.R27P RP11-154J22.1_ENST00000560323.1_RNA|DUT_ENST00000559416.1_Intron|DUT_ENST00000558813.1_Intron|DUT_ENST00000559935.1_Intron|RP11-154J22.1_ENST00000559134.1_RNA NM_001025248.1|NM_001025249.1 NP_001020419.1|NP_001020420.1 P33316 DUT_HUMAN deoxyuridine triphosphatase 27 DNA replication|dUTP metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process mitochondrion|nucleoplasm dUTP diphosphatase activity|protein binding kidney(2) 2 all_lung(180;0.00265) all cancers(107;2.66e-09)|GBM - Glioblastoma multiforme(94;6.76e-07) CAAAACGCGCGAGGCGCACGG 0.701000 Modulation of nucleotide pools 3 12 0 0 1 0 0 RAPH1 65059 broad.mit.edu 37 2 204354725 204354725 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:204354725G>A ENST00000319170.5 - 4 613 c.314C>T c.(313-315)tCa>tTa p.S105L RAPH1_ENST00000453034.1_Missense_Mutation_p.S105L|RAPH1_ENST00000374488.2_Missense_Mutation_p.S105L|RAPH1_ENST00000439222.1_Missense_Mutation_p.S105L|RAPH1_ENST00000418114.1_Missense_Mutation_p.S105L|RAPH1_ENST00000423104.1_Missense_Mutation_p.S105L|RAPH1_ENST00000374489.2_Missense_Mutation_p.S105L|RAPH1_ENST00000374493.3_Missense_Mutation_p.S105L|RAPH1_ENST00000457812.1_Missense_Mutation_p.S105L|RAPH1_ENST00000419464.1_Missense_Mutation_p.S105L|RAPH1_ENST00000308091.4_Missense_Mutation_p.S105L NM_213589.1 NP_998754.1 Q70E73 RAPH1_HUMAN Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 105 cell-matrix adhesion|signal transduction cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 ACTGTTTCCTGAACCAATGCT 0.443000 32 120 0 0 1 0 0 PCNXL2 80003 broad.mit.edu 37 1 233344284 233344284 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:233344284G>A ENST00000258229.9 - 13 3077 c.2843C>T c.(2842-2844)tCa>tTa p.S948L PCNXL2_ENST00000430153.1_Missense_Mutation_p.S247L|PCNXL2_ENST00000488780.2_Missense_Mutation_p.S81L NM_014801.3 NP_055616.3 A6NKB5 PCX2_HUMAN pecanex-like 2 (Drosophila) integral to membrane NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 86 all_cancers(173;0.0347)|Prostate(94;0.137) GTCCCTAGCTGATTGTAGAAA 0.468000 15 41 0 0 1 0 0 GDA 9615 broad.mit.edu 37 9 74764516 74764516 + Missense_Mutation SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:74764516G>T ENST00000358399.3 + 1 134 c.41G>T c.(40-42)cGa>cTa p.R14L GDA_ENST00000376986.1_5'UTR|GDA_ENST00000545168.1_Intron|GDA_ENST00000376989.3_5'UTR|GDA_ENST00000238018.4_Missense_Mutation_p.R14L NM_001242505.2|NM_001242506.2|NM_004293.4 NP_001229434.1|NP_001229435.1|NP_004284.1 Q9Y2T3 GUAD_HUMAN guanine deaminase 14 nervous system development|purine base metabolic process|purine nucleotide catabolic process cytosol guanine deaminase activity|zinc ion binding central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1) 32 Myeloproliferative disorder(762;0.0122) Lung(182;0.0583) CACATCTTCCGAGGGACGTTC 0.701000 18 29 1.33834e-09 1.39764e-09 1 1 0 SH3D19 152503 broad.mit.edu 37 4 152096430 152096430 + Nonsense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr4:152096430G>C ENST00000409598.4 - 7 1253 c.86C>G c.(85-87)tCa>tGa p.S29* SH3D19_ENST00000514152.1_Nonsense_Mutation_p.S29*|SH3D19_ENST00000424281.1_Nonsense_Mutation_p.S29*|SH3D19_ENST00000455740.1_Nonsense_Mutation_p.S29*|SH3D19_ENST00000409252.2_Nonsense_Mutation_p.S29*|SH3D19_ENST00000304527.4_Nonsense_Mutation_p.S29*|SH3D19_ENST00000427414.2_Nonsense_Mutation_p.S29* Q5HYK7 SH319_HUMAN SH3 domain containing 19 29 cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport cytosol|Golgi apparatus|nucleus|plasma membrane proline-rich region binding autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1) 20 all_hematologic(180;0.093) Acute lymphoblastic leukemia(8;0.138) GGGCAGTCCTGAGGTTTCTAT 0.433000 38 122 0 0 1 0 0 LOC643923 643923 broad.mit.edu 37 11 107463110 107463110 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:107463110G>A ENST00000600612.1 + 2 321 c.308G>A c.(307-309)gGa>gAa p.G103E ELMOD1_ENST00000265840.7_Intron|ELMOD1_ENST00000531234.1_Intron|ELMOD1_ENST00000443271.2_Intron|ELMOD1_ENST00000529675.1_3'UTR CTGTCATTTGGAGAGACCAAT 0.498000 15 27 0 0 1 0 0 NIF3L1 60491 broad.mit.edu 37 2 201768234 201768234 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:201768234G>A ENST00000409020.1 + 7 1261 c.967G>A c.(967-969)Gat>Aat p.D323N NIF3L1_ENST00000409357.1_Missense_Mutation_p.D323N|NIF3L1_ENST00000359683.4_Missense_Mutation_p.D296N|NIF3L1_ENST00000409588.1_Missense_Mutation_p.M276I|NIF3L1_ENST00000416651.1_Missense_Mutation_p.D323N Q9GZT8 NIF3L_HUMAN NIF3 NGG1 interacting factor 3-like 1 (S. cerevisiae) 323 positive regulation of transcription, DNA-dependent transcription factor binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(2) 13 GTCCCATCATGATACTTTGGA 0.408000 23 68 0 0 1 0 0 FBXO3 26273 broad.mit.edu 37 11 33772145 33772145 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:33772145G>A ENST00000530401.1 - 8 877 c.857C>T c.(856-858)tCg>tTg p.S286L FBXO3_ENST00000531080.1_5'UTR|FBXO3_ENST00000265651.3_Missense_Mutation_p.S291L|FBXO3_ENST00000526785.1_Missense_Mutation_p.S178L|FBXO3_ENST00000448981.2_Missense_Mutation_p.S291L|FBXO3_ENST00000532057.1_5'UTR|FBXO3_ENST00000534136.1_Missense_Mutation_p.S291L Q9UK99 FBX3_HUMAN F-box protein 3 291 ApaG. proteolysis nucleus ubiquitin-protein ligase activity NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|pancreas(1)|stomach(1) 13 Lung NSC(402;0.0804) BRCA - Breast invasive adenocarcinoma(625;0.00315)|Lung(977;0.00488)|LUSC - Lung squamous cell carcinoma(625;0.008) TGGCAGAAACGATGTGGAAAC 0.373000 10 34 0 0 1 0 0 FOXA2 3170 broad.mit.edu 37 20 22562719 22562719 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr20:22562719G>A ENST00000419308.2 - 2 1345 c.1161C>T c.(1159-1161)ctC>ctT p.L387L FOXA2_ENST00000377115.4_Silent_p.L381L NM_021784.4 NP_068556.2 Q9Y261 FOXA2_HUMAN forkhead box A2 387 Transactivation domain 2 (By similarity). cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6 cytoplasm|transcription factor complex DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding p.L381L(1) breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1) 22 Lung NSC(19;0.188) CCGAGGACATGAGGTTGTTGA 0.637000 13 33 0 0 1 0 0 MRPS30 10884 broad.mit.edu 37 5 44811174 44811174 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:44811174G>A ENST00000507110.1 + 2 703 c.665G>A c.(664-666)cGa>cAa p.R222Q NM_016640.3 NP_057724.2 Q9NP92 RT30_HUMAN mitochondrial ribosomal protein S30 222 apoptosis|translation mitochondrion|ribosome structural constituent of ribosome central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1) 20 Lung NSC(6;8.08e-07) CGTGGTCATCGAAGAGGTCGA 0.373000 15 47 0 0 1 0 0 DSG1 1828 broad.mit.edu 37 18 28916386 28916386 + Missense_Mutation SNP C C A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr18:28916386C>A ENST00000257192.4 + 9 1287 c.1075C>A c.(1075-1077)Cat>Aat p.H359N NM_001942.2 NP_001933.2 Q02413 DSG1_HUMAN desmoglein 1 359 Cadherin 3. calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization cytosol|desmosome|integral to membrane|internal side of plasma membrane calcium ion binding|gamma-catenin binding|toxin binding NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1) 76 OV - Ovarian serous cystadenocarcinoma(10;0.00559) TGAATTTCATCATTCAATTAT 0.343000 5 25 0.184627 0.184845 1 1 0 CDHR5 53841 broad.mit.edu 37 11 624652 624652 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:624652C>T ENST00000358353.3 - 3 488 c.166G>A c.(166-168)Gag>Aag p.E56K CDHR5_ENST00000529337.1_5'UTR|CDHR5_ENST00000349570.7_Missense_Mutation_p.E56K|CDHR5_ENST00000397542.2_Missense_Mutation_p.E56K Q9HBB8 CDHR5_HUMAN cadherin-related family member 5 56 calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2) 23 TCCTGGCCCTCCGGGACGTGG 0.552000 36 127 0 0 1 0 0 TLK2 11011 broad.mit.edu 37 17 60685465 60685465 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:60685465G>A ENST00000582809.1 + 22 2291 c.1588G>A c.(1588-1590)Gaa>Aaa p.E530K TLK2_ENST00000343388.7_Missense_Mutation_p.E647K|TLK2_ENST00000326270.9_Missense_Mutation_p.E701K|TLK2_ENST00000346027.5_Missense_Mutation_p.E679K|TLK2_ENST00000542523.1_Missense_Mutation_p.E647K Q86UE8 TLK2_HUMAN tousled-like kinase 2 701 Protein kinase. cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus nucleus ATP binding|protein binding|protein serine/threonine kinase activity NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1) 39 TAAAGCTACTGAAGTGCAGTT 0.423000 9 28 0 0 1 0 0 ITGA11 22801 broad.mit.edu 37 15 68609618 68609618 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr15:68609618G>A ENST00000423218.2 - 21 2795 c.2700C>T c.(2698-2700)ttC>ttT p.F900F ITGA11_ENST00000315757.7_Silent_p.F900F Q9UKX5 ITA11_HUMAN integrin, alpha 11 900 cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development integrin complex collagen binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 52 Tirofiban(DB00775) CCTTGGCCCGGAAGAAGGGAT 0.602000 26 112 0 0 1 0 0 ZCCHC16 340595 broad.mit.edu 37 X 111698857 111698857 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chrX:111698857C>T ENST00000340433.2 + 1 1131 c.901C>T c.(901-903)Ccg>Tcg p.P301S NM_001004308.2 NP_001004308.2 Q6ZR62 ZCH16_HUMAN zinc finger, CCHC domain containing 16 301 nucleic acid binding|zinc ion binding p.P301S(1) cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 27 TTCTCGAGCTCCGGCAACGAC 0.478000 22 25 0 0 1 0 0 TBC1D22A 25771 broad.mit.edu 37 22 47307990 47307990 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr22:47307990C>T ENST00000337137.4 + 8 1087 c.921C>T c.(919-921)ttC>ttT p.F307F TBC1D22A_ENST00000380995.1_Silent_p.F260F|TBC1D22A_ENST00000406733.1_Silent_p.F260F|TBC1D22A_ENST00000355704.3_Silent_p.F229F|TBC1D22A_ENST00000407381.3_Silent_p.F248F NM_001284304.1|NM_001284305.1|NM_014346.2 NP_001271233.1|NP_001271234.1|NP_055161.1 Q8WUA7 TB22A_HUMAN TBC1 domain family, member 22A 307 Rab-GAP TBC. intracellular protein homodimerization activity|Rab GTPase activator activity breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1) 22 all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236) UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231) GGATCTTGTTCATATGGGCGA 0.373000 35 85 0 0 1 0 0 IRF4 3662 broad.mit.edu 37 6 397158 397158 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:397158C>T ENST00000380956.4 + 5 669 c.543C>T c.(541-543)taC>taT p.Y181Y IRF4_ENST00000495137.1_3'UTR NM_001195286.1|NM_002460.3 NP_001182215.1|NP_002451.2 Q15306 IRF4_HUMAN interferon regulatory factor 4 181 interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway cytoplasm DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2) 5 Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702) GGAGGGACTACGTCCCGGATC 0.572000 T IGH@ MM 42 179 0 0 1 0 0 STAC 6769 broad.mit.edu 37 3 36587730 36587730 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:36587730C>T ENST00000273183.3 + 11 1458 c.1158C>T c.(1156-1158)ctC>ctT p.L386L STAC_ENST00000457375.2_Silent_p.L325L NM_003149.1 NP_003140.1 Q99469 STAC_HUMAN SH3 and cysteine rich domain 386 intracellular signal transduction cytoplasm|soluble fraction metal ion binding endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5) 32 TCAGAGTCCTCAGTGGAAAAA 0.438000 29 88 0 0 1 0 0 COL7A1 1294 broad.mit.edu 37 3 48603971 48603971 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:48603971C>G ENST00000328333.8 - 112 8437 c.8330G>C c.(8329-8331)cGa>cCa p.R2777P COL7A1_ENST00000454817.1_Missense_Mutation_p.R2745P NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 2777 Triple-helical region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CTTCTCGCCTCGAGGACCGGC 0.667000 44 142 0 0 1 0 0 ATP10B 23120 broad.mit.edu 37 5 159992533 159992533 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:159992533C>G ENST00000327245.5 - 26 5159 c.4313G>C c.(4312-4314)aGa>aCa p.R1438T NM_025153.2 NP_079429.2 O94823 AT10B_HUMAN ATPase, class V, type 10B 1438 ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1) 75 Renal(175;0.00196) Medulloblastoma(196;0.0377)|all_neural(177;0.121) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) AGTCTGTCCTCTTGAGTAGGC 0.537000 47 116 0 0 1 0 0 PRDX2 7001 broad.mit.edu 37 19 12911751 12911751 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:12911751G>A ENST00000301522.2 - 3 364 c.236C>T c.(235-237)tCt>tTt p.S79F PRDX2_ENST00000334482.5_Missense_Mutation_p.S79F|CTD-2659N19.10_ENST00000585496.1_RNA|PRDX2_ENST00000435703.1_Missense_Mutation_p.S79F NM_005809.4 NP_005800.3 P32119 PRDX2_HUMAN peroxiredoxin 2 79 Thioredoxin. anti-apoptosis|cell redox homeostasis|hydrogen peroxide catabolic process|removal of superoxide radicals thioredoxin peroxidase activity endometrium(1)|large_intestine(1)|lung(1)|prostate(1) 4 GGTGAACTGAGAGTCCACCGA 0.587000 6 25 0 0 1 0 0 TPR 7175 broad.mit.edu 37 1 186320521 186320521 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:186320521G>C ENST00000367478.4 - 20 2847 c.2551C>G c.(2551-2553)Cta>Gta p.L851V NM_003292.2 NP_003283.2 P12270 TPR_HUMAN translocated promoter region, nuclear basket protein carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm ATP binding|protein binding|serine-tRNA ligase activity autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8) 123 Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157) Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553) TTCTTCTTTAGATGAGAGATC 0.378000 T NTRK1 papillary thyroid 13 48 0 0 1 0 0 BCL9 607 broad.mit.edu 37 1 147091483 147091483 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:147091483C>T ENST00000234739.3 + 8 2262 c.1522C>T c.(1522-1524)Cgg>Tgg p.R508W NM_004326.2 NP_004317.2 O00512 BCL9_HUMAN B-cell CLL/lymphoma 9 508 Pro-rich. Wnt receptor signaling pathway nucleus protein binding p.R508W(1) breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1) 7 all_hematologic(923;0.115) GCACGGGCCTCGGGGAGTGGT 0.567000 T """IGH@, IGL@""" B-ALL 36 152 0 0 1 0 0 ZNF732 654254 broad.mit.edu 37 4 265128 265128 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr4:265128C>T ENST00000419098.1 - 4 1528 c.1518G>A c.(1516-1518)gaG>gaA p.E506E NM_001137608.1 NP_001131080.1 B4DXR9 ZN732_HUMAN zinc finger protein 732 506 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|lung(2) 3 CTTTGCCACACTCTTCACATT 0.388000 4 19 0 0 1 0 0 PCDHA1 56147 broad.mit.edu 37 5 140168060 140168060 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:140168060G>A ENST00000504120.2 + 1 2185 c.2185G>A c.(2185-2187)Gag>Aag p.E729K PCDHA1_ENST00000378133.3_Missense_Mutation_p.E729K|PCDHA1_ENST00000394633.3_Intron NM_018900.2 NP_061723.1 breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3) 70 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCGCCCACTGAGGGTGCGTA 0.642000 24 75 0 0 1 0 0 ARF3 377 broad.mit.edu 37 12 49334843 49334843 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:49334843C>T ENST00000256682.4 - 2 370 c.36G>A c.(34-36)ctG>ctA p.L12L RP11-302B13.5_ENST00000398092.4_Silent_p.L12L|ARF3_ENST00000447318.2_Silent_p.L12L|ARF3_ENST00000541959.1_Silent_p.L12L NM_001659.2 NP_001650.1 P61204 ARF3_HUMAN ADP-ribosylation factor 3 12 protein transport|small GTPase mediated signal transduction|vesicle-mediated transport Golgi apparatus|perinuclear region of cytoplasm GTP binding|GTPase activity endometrium(1)|lung(2)|skin(1) 4 TCTTCCCAATCAGGCTCTTGA 0.547000 53 191 0 0 1 0 0 HIST1H3C 8352 broad.mit.edu 37 6 26045914 26045914 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:26045914G>A ENST00000540144.1 + 1 276 c.276G>A c.(274-276)gcG>gcA p.A92A NM_003531.2 NP_003522.1 P68431 H31_HUMAN histone cluster 1, H3c 92 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1) 8 CGGTGATGGCGCTGCAGGAGG 0.582000 22 80 0 0 1 0 0 APBA2 321 broad.mit.edu 37 15 29367150 29367150 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr15:29367150G>A ENST00000558402.1 + 6 1577 c.978G>A c.(976-978)agG>agA p.R326R APBA2_ENST00000561069.1_Silent_p.R326R|APBA2_ENST00000558330.1_Silent_p.R326R|APBA2_ENST00000558259.1_Silent_p.R326R|APBA2_ENST00000411764.1_Silent_p.R326R Q99767 APBA2_HUMAN amyloid beta (A4) precursor protein-binding, family A, member 2 326 nervous system development|protein transport protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1) 59 all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234) all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24) AGCAGCCAAGGAAGCAGCAGC 0.418000 13 28 0 0 1 0 0 DNAI1 27019 broad.mit.edu 37 9 34489432 34489432 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:34489432G>C ENST00000242317.4 + 5 544 c.373G>C c.(373-375)Gat>Cat p.D125H DNAI1_ENST00000488369.1_3'UTR NM_001281428.1|NM_012144.2 NP_001268357.1|NP_036276.1 Q9UI46 DNAI1_HUMAN dynein, axonemal, intermediate chain 1 125 cell projection organization cilium axoneme|cytoplasm|dynein complex|microtubule motor activity autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1) 34 all_epithelial(49;0.244) LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212) GBM - Glioblastoma multiforme(74;0.0222) GCATTACCGCGATGAATTAGT 0.527000 Kartagener syndrome 19 83 0 0 1 0 0 SMTNL1 219537 broad.mit.edu 37 11 57310839 57310839 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:57310839G>A ENST00000457912.1 + 2 778 c.778G>A c.(778-780)Gag>Aag p.E260K SMTNL1_ENST00000399154.2_Intron|SMTNL1_ENST00000527972.1_Missense_Mutation_p.E242K E9PPJ3 E9PPJ3_HUMAN smoothelin-like 1 242 endometrium(2)|large_intestine(1)|lung(4)|ovary(1) 8 GGAGGATGCAGAGGAGGCAGT 0.567000 13 55 0 0 1 0 0 KCTD11 147040 broad.mit.edu 37 17 7256940 7256940 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:7256940C>G ENST00000333751.3 + 1 1733 c.679C>G c.(679-681)Ctg>Gtg p.L227V RP11-542C16.1_ENST00000572417.1_RNA NM_001002914.2 NP_001002914.1 Q693B1 KCD11_HUMAN potassium channel tetramerization domain containing 11 227 cell cycle|regulation of growth voltage-gated potassium channel complex voltage-gated potassium channel activity kidney(1)|large_intestine(2)|lung(1) 4 Prostate(122;0.157) CTCCAGGTCTCTGCGCTTTGT 0.592000 18 42 0 0 1 0 0 TRBV5-5 28610 broad.mit.edu 37 7 142149206 142149206 + RNA SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:142149206C>G ENST00000390372.3 - 0 71 TTGGGTGACTCCAGCGTCCAC 0.542000 28 96 0 0 1 0 0 ZNF750 79755 broad.mit.edu 37 17 80789062 80789062 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:80789062C>T ENST00000269394.3 - 2 2102 c.1269G>A c.(1267-1269)acG>acA p.T423T TBCD_ENST00000539345.2_Intron|ZNF750_ENST00000572562.1_Silent_p.T24T|TBCD_ENST00000355528.4_Intron|TBCD_ENST00000397466.2_Intron NM_024702.2 NP_078978.2 Q32MQ0 ZN750_HUMAN zinc finger protein 750 423 intracellular zinc ion binding NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 31 Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0514)|all_epithelial(8;0.0748) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149) AGGTCTGGCTCGTCTGCATGA 0.652000 37 110 0 0 1 0 0 HTRA3 94031 broad.mit.edu 37 4 8293139 8293139 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr4:8293139C>T ENST00000307358.2 + 4 955 c.751C>T c.(751-753)Cgg>Tgg p.R251W HTRA3_ENST00000382512.3_Missense_Mutation_p.R251W NM_053044.3 NP_444272.1 P83110 HTRA3_HUMAN HtrA serine peptidase 3 251 Serine protease. proteolysis|regulation of cell growth extracellular region insulin-like growth factor binding|serine-type endopeptidase activity central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1) 18 GGCCGACCTGCGGCCTGGGGA 0.612000 22 105 0 0 1 0 0 ZNF567 163081 broad.mit.edu 37 19 37210440 37210440 + Missense_Mutation SNP C C A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:37210440C>A ENST00000585696.1 + 3 1951 c.721C>A c.(721-723)Cag>Aag p.Q241K ZNF567_ENST00000536254.2_Missense_Mutation_p.Q272K|ZNF567_ENST00000588311.1_Missense_Mutation_p.Q241K|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000392163.2_Missense_Mutation_p.Q241K|ZNF567_ENST00000360729.4_Missense_Mutation_p.Q241K Q8N184 ZN567_HUMAN zinc finger protein 567 272 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 Esophageal squamous(110;0.198) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) GATTCTGCATCAGGGAATTCA 0.333000 6 22 4.096e-09 4.27223e-09 1 1 0 KCNH6 81033 broad.mit.edu 37 17 61601526 61601526 + Nonsense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:61601526C>T ENST00000583023.1 + 2 114 c.103C>T c.(103-105)Cag>Tag p.Q35* KCNH6_ENST00000314672.5_Nonsense_Mutation_p.Q35*|KCNH6_ENST00000580652.1_Nonsense_Mutation_p.Q35*|KCNH6_ENST00000581784.1_Nonsense_Mutation_p.Q35*|KCNH6_ENST00000456941.2_Nonsense_Mutation_p.Q35* NM_030779.2 NP_110406.1 Q9H252 KCNH6_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 6 35 regulation of transcription, DNA-dependent|signal transduction breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 54 Ibutilide(DB00308) TGCCAATGCTCAGATGGAGAA 0.567000 83 275 0 0 1 0 0 EMILIN2 84034 broad.mit.edu 37 18 2891158 2891158 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr18:2891158G>A ENST00000254528.3 + 4 1192 c.1033G>A c.(1033-1035)Gag>Aag p.E345K NM_032048.2 NP_114437.2 Q9BXX0 EMIL2_HUMAN elastin microfibril interfacer 2 345 cell adhesion collagen extracellular matrix constituent conferring elasticity|protein binding breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4) 48 READ - Rectum adenocarcinoma(2;0.1) AAACTCATGTGAGTACAAGCT 0.522000 38 123 0 0 1 0 0 HNRNPA2B1 3181 broad.mit.edu 37 7 26240221 26240221 + Translation_Start_Site SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:26240221G>C ENST00000354667.4 - 0 145 HNRNPA2B1_ENST00000356674.7_De_novo_Start_OutOfFrame NM_031243.2 NP_112533.1 P22626 ROA2_HUMAN heterogeneous nuclear ribonucleoprotein A2/B1 RNA transport catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm nucleotide binding|protein binding|RNA binding|single-stranded telomeric DNA binding HNRNPA2B1/ETV1(8) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 22 GCTTCAGCCCGATTTCCCGCA 0.577000 T ETV1 prostate 48 166 0 0 1 0 0 TPGS2 25941 broad.mit.edu 37 18 34376949 34376949 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr18:34376949G>C ENST00000334295.4 - 7 1149 c.722C>G c.(721-723)tCc>tGc p.S241C TPGS2_ENST00000593035.1_Missense_Mutation_p.S206C|TPGS2_ENST00000383056.3_Missense_Mutation_p.S198C|TPGS2_ENST00000590842.1_Intron|TPGS2_ENST00000587129.1_Intron|TPGS2_ENST00000590652.1_Intron NM_015476.2 NP_056291.2 Q68CL5 TPGS2_HUMAN tubulin polyglutamylase complex subunit 2 241 cytoplasm|microtubule ATTCACAAAGGAGTCGGTCTC 0.443000 52 143 0 0 1 0 0 C15orf54 400360 broad.mit.edu 37 15 39544555 39544555 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr15:39544555G>C ENST00000318578.3 + 2 587 c.219G>C c.(217-219)atG>atC p.M73I RP11-624L4.1_ENST00000558209.1_RNA|RP11-624L4.1_ENST00000560484.1_RNA|RP11-624L4.1_ENST00000561058.1_RNA|C15orf54_ENST00000561223.1_Missense_Mutation_p.M73I NM_207445.2 NP_997328.1 Q8N8G6 CO054_HUMAN chromosome 15 open reading frame 54 73 NS(1)|haematopoietic_and_lymphoid_tissue(2)|lung(2) 5 all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198) GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706) TGTCAGAAATGACTTTCAGGG 0.423000 66 144 0 0 1 0 0 WDR81 124997 broad.mit.edu 37 17 1639411 1639411 + Missense_Mutation SNP G G A rs141513894 by1000genomes TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:1639411G>A ENST00000409644.1 + 9 5404 c.5404G>A c.(5404-5406)Gtg>Atg p.V1802M WDR81_ENST00000446363.1_Missense_Mutation_p.V441M|WDR81_ENST00000309182.5_Missense_Mutation_p.V751M|WDR81_ENST00000545662.1_Missense_Mutation_p.V433M|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000419248.1_Missense_Mutation_p.V575M|WDR81_ENST00000437219.2_Missense_Mutation_p.V599M NM_001163809.1 NP_001157281.1 B3KXU1 B3KXU1_HUMAN WD repeat domain 81 575 cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1) 16 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) CCGTAGTGTCGTGGCCGGCTT 0.667000 28 68 0 0 1 0 0 COL7A1 1294 broad.mit.edu 37 3 48613150 48613150 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:48613150C>G ENST00000328333.8 - 72 5995 c.5888G>C c.(5887-5889)tGg>tCg p.W1963S COL7A1_ENST00000454817.1_Missense_Mutation_p.W1931S NM_000094.3 NP_000085.1 Q02388 CO7A1_HUMAN collagen, type VII, alpha 1 1963 Triple-helical region. cell adhesion|epidermis development basement membrane|collagen type VII protein binding|serine-type endopeptidase inhibitor activity NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5) 137 BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) GCTCTCATCCCAGGTCTCCAC 0.667000 20 89 0 0 1 0 0 FILIP1 27145 broad.mit.edu 37 6 76124427 76124427 + Nonsense_Mutation SNP C C A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:76124427C>A ENST00000393004.2 - 2 483 c.262G>T c.(262-264)Gaa>Taa p.E88* FILIP1_ENST00000237172.7_Nonsense_Mutation_p.E88* Q7Z7B0 FLIP1_HUMAN filamin A interacting protein 1 88 ELSKEDLIQLLSIMEGE -> AQYAIYIVSRLILLHFL (in Ref. 2; BAA86589). breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4) 80 AACTCCCCTTCCATTATACTG 0.388000 47 145 4.10826e-27 4.38749e-27 1 1 0 MTFP1 51537 broad.mit.edu 37 22 30822740 30822740 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr22:30822740C>T ENST00000439838.1 + 7 619 c.619C>T c.(619-621)Ctt>Ttt p.L207F MTFP1_ENST00000355143.4_Missense_Mutation_p.L35F|MTFP1_ENST00000407550.3_Missense_Mutation_p.L35F|MTFP1_ENST00000266263.5_Missense_Mutation_p.L35F TTTCCGCTCTCTTGTGCCAGC 0.602000 OREG0026460 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 18 58 0 0 1 0 0 SH3RF2 153769 broad.mit.edu 37 5 145393552 145393552 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:145393552C>T ENST00000511217.1 + 4 1039 c.987C>T c.(985-987)atC>atT p.I329I SH3RF2_ENST00000359120.4_Silent_p.I329I Q8TEC5 SH3R2_HUMAN SH3 domain containing ring finger 2 329 ligase activity|protein phosphatase 1 binding|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1) 22 KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CAGTGCTCATCAGCTCCAGCA 0.562000 47 142 0 0 1 0 0 CCDC27 148870 broad.mit.edu 37 1 3679963 3679963 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:3679963G>C ENST00000294600.2 + 7 1330 c.1246G>C c.(1246-1248)Gag>Cag p.E416Q NM_152492.2 NP_689705.2 Q2M243 CCD27_HUMAN coiled-coil domain containing 27 416 Glu-rich. breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2) 36 all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218) all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127) Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203) GGCCCAGCTGGAGGAGTACGA 0.637000 30 71 0 0 1 0 0 OASL 8638 broad.mit.edu 37 12 121465473 121465473 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:121465473C>T ENST00000257570.5 - 4 1075 c.805G>A c.(805-807)Gag>Aag p.E269K OASL_ENST00000339275.5_Intron NM_003733.3 NP_003724.1 Q15646 OASL_HUMAN 2'-5'-oligoadenylate synthetase-like 269 interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway cytoplasm|nucleolus ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2) 14 all_neural(191;0.0684)|Medulloblastoma(191;0.0922) ACTTCATACTCCAGGAGCAGG 0.438000 34 63 0 0 1 0 0 HES1 3280 broad.mit.edu 37 3 193855564 193855564 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:193855564G>C ENST00000232424.3 + 4 621 c.385G>C c.(385-387)Gag>Cag p.E129Q NM_005524.3 NP_005515.1 Q14469 HES1_HUMAN hes family bHLH transcription factor 1 129 Orange. endocrine pancreas development|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway nucleus histone deacetylase binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1) 6 all_cancers(143;7.3e-09)|Ovarian(172;0.0634) OV - Ovarian serous cystadenocarcinoma(49;3.65e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;1.48e-05) GTCCACGTGCGAGGGCGTTAA 0.657000 21 86 0 0 1 0 0 PYGM 5837 broad.mit.edu 37 11 64514790 64514790 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:64514790G>A ENST00000164139.3 - 18 2616 c.2218C>T c.(2218-2220)Cgg>Tgg p.R740W PYGM_ENST00000377432.3_Missense_Mutation_p.R652W NM_005609.2 NP_005600.1 P11217 PYGM_HUMAN phosphorylase, glycogen, muscle 740 glucose metabolic process|glycogen catabolic process cytosol glycogen phosphorylase activity|protein binding cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 38 Pyridoxal Phosphate(DB00114) ATGACCTGCCGAAGCTCAGGA 0.567000 30 63 0 0 1 0 0 HSPG2 3339 broad.mit.edu 37 1 22203044 22203044 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:22203044G>A ENST00000374695.3 - 22 2866 c.2787C>T c.(2785-2787)gtC>gtT p.V929V NM_005529.5 NP_005520.4 P98160 PGBM_HUMAN heparan sulfate proteoglycan 2 929 Laminin EGF-like 5; first part. angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process basement membrane|extracellular space|plasma membrane protein C-terminus binding breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3) 127 Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223) Becaplermin(DB00102)|Palifermin(DB00039) AGTGGCGACTGACACCCATGC 0.622000 19 52 0 0 1 0 0 MKX 283078 broad.mit.edu 37 10 28032180 28032180 + Silent SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:28032180G>C ENST00000375790.5 - 2 597 c.165C>G c.(163-165)ctC>ctG p.L55L MKX_ENST00000419761.1_Silent_p.L55L Q8IYA7 MKX_HUMAN mohawk homeobox 55 muscle organ development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2) 16 GTCTCAGGCCGAGGTTGTCCT 0.746000 4 22 0 0 1 0 0 KMT2C 58508 broad.mit.edu 37 7 151859702 151859702 + Nonsense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:151859702G>A ENST00000355193.2 - 43 11178 c.10960C>T c.(10960-10962)Caa>Taa p.Q3654* KMT2C_ENST00000262189.6_Nonsense_Mutation_p.Q3654* lysine (K)-specific methyltransferase 2C TCGGCTTGTTGAGGAAGCTCA 0.532000 35 100 0 0 1 0 0 ZNF80 7634 broad.mit.edu 37 3 113955831 113955831 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:113955831C>T ENST00000482457.2 - 1 594 c.91G>A c.(91-93)Gaa>Aaa p.E31K NM_007136.3 NP_009067.2 P51504 ZNF80_HUMAN zinc finger protein 80 31 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2) 32 Lung NSC(201;0.0233)|all_neural(597;0.0837) GAGTCACATTCATGGAGATTG 0.507000 18 90 0 0 1 0 0 KCNB2 9312 broad.mit.edu 37 8 73848659 73848659 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:73848659G>A ENST00000523207.1 + 3 1657 c.1069G>A c.(1069-1071)Gag>Aag p.E357K NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 357 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) ATTTTTTGCTGAGAAGGATGA 0.448000 42 128 0 0 1 0 0 DRAXIN 374946 broad.mit.edu 37 1 11772015 11772015 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:11772015G>C ENST00000294485.5 + 4 885 c.750G>C c.(748-750)aaG>aaC p.K250N NM_198545.3 NP_940947.3 dorsal inhibitory axon guidance protein CCTCTGCAAAGAAGAAAGGTA 0.582000 7 16 0 0 1 0 0 PBRM1 55193 broad.mit.edu 37 3 52620683 52620683 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:52620683C>T ENST00000356770.4 - 19 3051 c.3049G>A c.(3049-3051)Gaa>Aaa p.E1017K PBRM1_ENST00000394830.3_Missense_Mutation_p.E1024K|PBRM1_ENST00000296302.7_Missense_Mutation_p.E1049K|PBRM1_ENST00000337303.4_Missense_Mutation_p.E1049K|PBRM1_ENST00000409767.1_Missense_Mutation_p.E1064K|PBRM1_ENST00000409057.1_Missense_Mutation_p.E1049K|PBRM1_ENST00000409114.3_Missense_Mutation_p.E1064K|PBRM1_ENST00000410007.1_Missense_Mutation_p.E1024K Q86U86 PB1_HUMAN polybromo 1 1049 BAH 1. chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear chromosome chromatin binding|DNA binding|protein binding breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1) 335 BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) CGGAAGTTTTCTGGGCATAAC 0.358000 """Mis, N, F, S, D, O""" """clear cell renal carcinoma, breast""" 14 66 0 0 1 0 0 FAM47C 442444 broad.mit.edu 37 X 37027545 37027545 + Silent SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chrX:37027545C>G ENST00000358047.3 + 1 1114 c.1062C>G c.(1060-1062)ctC>ctG p.L354L NM_001013736.2 NP_001013758.1 Q5HY64 FA47C_HUMAN family with sequence similarity 47, member C 354 breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 120 TGTCCCATCTCTGCCCGGAAC 0.627000 73 50 0 0 1 0 0 TBC1D9 23158 broad.mit.edu 37 4 141545369 141545369 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr4:141545369C>G ENST00000442267.2 - 20 3053 c.2979G>C c.(2977-2979)aaG>aaC p.K993N NM_015130.2 NP_055945.2 Q6ZT07 TBCD9_HUMAN TBC1 domain family, member 9 (with GRAM domain) 993 intracellular calcium ion binding|Rab GTPase activator activity endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1) 31 all_hematologic(180;0.162) Medulloblastoma(177;0.00498) AATTTGCTCTCTTCCCTACAA 0.353000 5 10 0 0 1 0 0 INO80D 54891 broad.mit.edu 37 2 206882459 206882459 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:206882459G>A ENST00000403263.1 - 8 1891 c.1487C>T c.(1486-1488)cCa>cTa p.P496L NM_017759.4 NP_060229.3 Q53TQ3 IN80D_HUMAN INO80 complex subunit D 496 DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2) 26 GTCAAAAACTGGCACAGAGCA 0.428000 11 32 0 0 1 0 0 SMPD4 55627 broad.mit.edu 37 2 130922009 130922009 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:130922009C>T ENST00000409031.1 - 10 2067 c.919G>A c.(919-921)Gaa>Aaa p.E307K SMPD4_ENST00000473720.1_5'UTR|SMPD4_ENST00000426662.2_Silent_p.L20L|SMPD4_ENST00000443958.2_5'UTR|SMPD4_ENST00000339679.7_Missense_Mutation_p.E194K|SMPD4_ENST00000351288.6_Missense_Mutation_p.E307K|SMPD4_ENST00000452225.2_Silent_p.L20L|SMPD4_ENST00000453750.1_Missense_Mutation_p.E85K|SMPD4_ENST00000431183.2_Missense_Mutation_p.E234K NM_017951.4 NP_060421.2 Q9NXE4 NSMA3_HUMAN sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3) 268 sphingomyelin catabolic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 29 Colorectal(110;0.1) Phosphatidylserine(DB00144) AGCCACATTTCAACAAAAACC 0.433000 15 33 0 0 1 0 0 PIEZO2 63895 broad.mit.edu 37 18 10671659 10671659 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr18:10671659C>T ENST00000302079.6 - 51 7934 c.7935G>A c.(7933-7935)ttG>ttA p.L2645L PIEZO2_ENST00000285141.4_Silent_p.L500L|PIEZO2_ENST00000580640.1_Silent_p.L2733L|PIEZO2_ENST00000503781.3_Silent_p.L2708L|PIEZO2_ENST00000538948.1_Silent_p.L665L Q9H5I5 PIEZ2_HUMAN piezo-type mechanosensitive ion channel component 2 2708 integral to membrane ion channel activity TGCACAACTTCAAAATTCGAT 0.393000 8 39 0 0 1 0 0 GPR179 440435 broad.mit.edu 37 17 36486274 36486274 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:36486274C>T ENST00000342292.4 - 11 3198 c.3178G>A c.(3178-3180)Gat>Aat p.D1060N NM_001004334.2 NP_001004334.2 Q6PRD1 GP179_HUMAN G protein-coupled receptor 179 1060 integral to membrane|plasma membrane G-protein coupled receptor activity breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) TCGTCCACATCATTAGCTTCC 0.572000 34 70 0 0 1 0 0 NEK9 91754 broad.mit.edu 37 14 75563842 75563842 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:75563842C>T ENST00000238616.5 - 17 2292 c.2134G>A c.(2134-2136)Gac>Aac p.D712N NM_033116.4 NP_149107.4 Q8TD19 NEK9_HUMAN NIMA-related kinase 9 712 cell division|mitosis mitochondrion|nucleus ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 31 BRCA - Breast invasive adenocarcinoma(234;0.00718) CAAGACAGGTCCGGGACATGA 0.522000 12 45 0 0 1 0 0 AKAP17A 8227 broad.mit.edu 37 X 1719909 1719909 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chrX:1719909G>A ENST00000313871.3 + 5 1706 c.1510G>A c.(1510-1512)Gag>Aag p.E504K NM_005088.2 NP_005079.2 Q02040 AK17A_HUMAN A kinase (PRKA) anchor protein 17A 504 B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction nuclear speck|spliceosomal complex nucleotide binding|protein binding|RNA binding breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3) 26 GGCCCACCCAGAGGCCGACGG 0.721000 7 32 0 0 1 0 0 DIXDC1 85458 broad.mit.edu 37 11 111888513 111888513 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:111888513G>A ENST00000440460.2 + 20 2169 c.1872G>A c.(1870-1872)gtG>gtA p.V624V DIXDC1_ENST00000389821.4_3'UTR|DIXDC1_ENST00000315253.5_Silent_p.V413V NM_001037954.2 NP_001033043.1 Q155Q3 DIXC1_HUMAN DIX domain containing 1 625 DIX. multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway cytosol|focal adhesion actin binding|gamma-tubulin binding|signal transducer activity cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1) 17 all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548) TGGAGGAGGTGACGTTAAAGG 0.433000 3 15 0 0 1 0 0 FNIP1 96459 broad.mit.edu 37 5 130982830 130982830 + Silent SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:130982830C>G ENST00000307968.7 - 16 3290 c.3291G>C c.(3289-3291)ctG>ctC p.L1097L FNIP1_ENST00000307954.8_Silent_p.L1080L|CTC-432M15.3_ENST00000514667.1_Intron|FNIP1_ENST00000510461.1_Silent_p.L1125L NM_001008738.2 NP_001008738 folliculin interacting protein 1 NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0665) TCTGCCCCCTCAGGTATTCAG 0.468000 34 128 0 0 1 0 0 FBXO39 162517 broad.mit.edu 37 17 6683407 6683407 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:6683407G>A ENST00000321535.4 + 2 350 c.220G>A c.(220-222)Gaa>Aaa p.E74K NM_153230.2 NP_694962.1 Q8N4B4 FBX39_HUMAN F-box protein 39 74 NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 26 ACATGCATCTGAAGTTGAGTC 0.463000 34 112 0 0 1 0 0 SLC22A18 5002 broad.mit.edu 37 11 2946264 2946264 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:2946264C>T ENST00000380574.1 + 11 1543 c.1112C>T c.(1111-1113)tCt>tTt p.S371F SLC22A18_ENST00000441077.1_3'UTR|SLC22A18_ENST00000312221.5_Missense_Mutation_p.S371F|SLC22A18_ENST00000347936.2_Missense_Mutation_p.S371F|SLC22A18_ENST00000449793.2_Missense_Mutation_p.S273F Q96BI1 S22AI_HUMAN solute carrier family 22, member 18 371 excretion|organic cation transport apical plasma membrane|cytoplasmic part|integral to membrane|nuclear envelope drug:hydrogen antiporter activity|symporter activity|ubiquitin protein ligase binding central_nervous_system(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1) 8 all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198) BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.192) CTCTGCGCCTCTGTACAACCA 0.652000 35 103 0 0 1 0 0 UBR1 197131 broad.mit.edu 37 15 43294805 43294805 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr15:43294805G>A ENST00000290650.4 - 32 3685 c.3607C>T c.(3607-3609)Ctg>Ttg p.L1203L UBR1_ENST00000382177.2_3'UTR NM_174916.2 NP_777576.1 Q8IWV7 UBR1_HUMAN ubiquitin protein ligase E3 component n-recognin 1 1203 cellular response to leucine|negative regulation of TOR signaling cascade cytosol leucine binding|zinc ion binding p.L1203V(1) NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 58 all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214) GTATTGCACAGAGATTTGCAA 0.373000 14 72 0 0 1 0 0 WRN 7486 broad.mit.edu 37 8 31024573 31024573 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:31024573C>T ENST00000298139.5 + 34 4267 c.4018C>T c.(4018-4020)Cct>Tct p.P1340S NM_000553.4 NP_000544.2 Q14191 WRN_HUMAN Werner syndrome, RecQ helicase-like 1340 base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance centrosome|nucleolus|nucleoplasm 3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3) 60 Breast(100;0.195) KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192) AATGTTAGTTCCTGAAAACAT 0.343000 """Mis, N, F, S""" """osteosarcoma, meningioma, others""" Genes defective in diseases associated with sensitivity to DNA damaging agents Werner syndrome 18 35 0 0 1 0 0 ITGB4 3691 broad.mit.edu 37 17 73725400 73725400 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:73725400C>T ENST00000200181.3 + 7 808 c.621C>T c.(619-621)atC>atT p.I207I ITGB4_ENST00000579662.1_Silent_p.I207I|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000450894.3_Silent_p.I207I|ITGB4_ENST00000449880.2_Silent_p.I207I|ITGB4_ENST00000339591.3_Silent_p.I207I NM_000213.3 NP_000204.3 P16144 ITB4_HUMAN integrin, beta 4 207 VWFA. cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding cell leading edge|cell surface|hemidesmosome|integrin complex protein binding|receptor activity breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1) 43 all_cancers(13;1.5e-07) all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154) AGAACGTCATCAGCCTGACAG 0.597000 19 79 0 0 1 0 0 WDR1 9948 broad.mit.edu 37 4 10079487 10079487 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr4:10079487C>T ENST00000382452.2 - 13 1741 c.1459G>A c.(1459-1461)Gag>Aag p.E487K WDR1_ENST00000382451.2_Missense_Mutation_p.E347K|WDR1_ENST00000502702.1_Missense_Mutation_p.E347K|WDR1_ENST00000515743.1_5'UTR|WDR1_ENST00000499869.2_Missense_Mutation_p.E487K NM_017491.3 NP_059830.1 O75083 WDR1_HUMAN WD repeat domain 1 487 platelet activation|platelet degranulation|sensory perception of sound cytoskeleton|cytosol|extracellular region actin binding endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1) 12 STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232) CCCTTGGCCTCTAGGAGCTTG 0.642000 7 26 0 0 1 0 0 TMPRSS4 56649 broad.mit.edu 37 11 117988106 117988106 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:117988106G>A ENST00000534111.1 + 12 1498 c.1233G>A c.(1231-1233)ccG>ccA p.P411P TMPRSS4_ENST00000522824.1_Silent_p.P408P|TMPRSS4_ENST00000522307.1_Silent_p.P266P|TMPRSS4_ENST00000523251.1_Silent_p.P373P|TMPRSS4_ENST00000518413.2_3'UTR|TMPRSS4_ENST00000437212.3_Silent_p.P413P NM_001083947.1|NM_001173551.1|NM_019894.3 NP_001077416.1|NP_001167022|NP_063947.1 Q9NRS4 TMPS4_HUMAN transmembrane protease, serine 4 413 Peptidase S1. proteolysis integral to membrane scavenger receptor activity|serine-type endopeptidase activity breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1) 19 all_hematologic(175;0.0487) Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238) BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204) GCGGGGGCCCGAGCACCCCAG 0.572000 48 163 0 0 1 0 0 NYAP1 222950 broad.mit.edu 37 7 100084635 100084635 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:100084635C>T ENST00000423930.1 + 3 419 c.260C>T c.(259-261)tCg>tTg p.S87L NYAP1_ENST00000300179.2_Missense_Mutation_p.S87L|NYAP1_ENST00000454988.1_Missense_Mutation_p.S30L Q6ZVC0 CG051_HUMAN neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 87 TCCTGCCACTCGGTGGGCAGC 0.711000 7 34 0 0 1 0 0 ADCY8 114 broad.mit.edu 37 8 132052131 132052131 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:132052131C>T ENST00000286355.5 - 1 2541 c.449G>A c.(448-450)cGa>cAa p.R150Q ADCY8_ENST00000377928.3_Missense_Mutation_p.R150Q NM_001115.2 NP_001106.1 P40145 ADCY8_HUMAN adenylate cyclase 8 (brain) 150 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding p.R150Q(1) NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2) 134 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) AATGACCCCTCGGTAGCTATA 0.577000 HNSCC(32;0.087) 17 29 0 0 1 0 0 HECW2 57520 broad.mit.edu 37 2 197157303 197157303 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:197157303C>T ENST00000260983.3 - 14 3168 c.2986G>A c.(2986-2988)Gat>Aat p.D996N HECW2_ENST00000409111.1_Missense_Mutation_p.D640N NM_020760.1 NP_065811.1 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 Interaction with TP73.|WW 2. protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2) 113 CCCTGGTGATCATGTTTCATT 0.552000 29 84 0 0 1 0 0 GC 2638 broad.mit.edu 37 4 72649680 72649680 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr4:72649680C>G ENST00000273951.8 - 1 399 c.56G>C c.(55-57)aGa>aCa p.R19T GC_ENST00000513476.1_Missense_Mutation_p.R19T|GC_ENST00000504199.1_Missense_Mutation_p.R38T NM_000583.3|NM_001204306.1 NP_000574.2|NP_001191235.1 P02774 VTDB_HUMAN group-specific component (vitamin D binding protein) 19 Albumin 1. hormone biosynthetic process|vitamin D metabolic process cytosol|lysosomal lumen actin binding|vitamin D binding|vitamin transporter activity endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4) 45 all_hematologic(202;0.107) Lung(101;0.148) Cholecalciferol(DB00169) AATCTTACCTCTCTCTAAAGC 0.363000 16 44 0 0 1 0 0 PPL 5493 broad.mit.edu 37 16 4945714 4945714 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr16:4945714G>A ENST00000345988.2 - 10 1065 c.976C>T c.(976-978)Cac>Tac p.H326Y PPL_ENST00000590782.2_Missense_Mutation_p.H324Y NM_002705.4 NP_002696 O60437 PEPL_HUMAN periplakin 326 keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton p.H326Y(1) breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2) 62 ACGTCTTCGTGAAACTAGGGG 0.582000 38 97 0 0 1 0 0 MFSD2B 388931 broad.mit.edu 37 2 24239769 24239769 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:24239769G>A ENST00000338315.4 + 4 402 c.402G>A c.(400-402)ctG>ctA p.L134L MFSD2B_ENST00000406420.3_Silent_p.L134L A6NFX1 MFS2B_HUMAN major facilitator superfamily domain containing 2B 134 transport integral to membrane cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2) 10 TGTGGTTCCTGCCCCCCTTCA 0.672000 20 78 0 0 1 0 0 CEP95 90799 broad.mit.edu 37 17 62533747 62533747 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:62533747G>A ENST00000556440.2 + 20 2826 c.2316G>A c.(2314-2316)ctG>ctA p.L772L CEP95_ENST00000553412.1_Silent_p.L608L NM_138363.1 NP_612372.1 Q96GE4 CEP95_HUMAN centrosomal protein 95kDa 772 centrosome|spindle pole protein binding endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|ovary(1) 13 AGAGGGAGCTGAGATCTAAGA 0.453000 12 26 0 0 1 0 0 HEATR6 63897 broad.mit.edu 37 17 58128216 58128216 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:58128216G>A ENST00000184956.6 - 15 2428 c.2412C>T c.(2410-2412)ttC>ttT p.F804F HEATR6_ENST00000585976.1_Silent_p.F692F NM_022070.4 NP_071353.4 Q6AI08 HEAT6_HUMAN HEAT repeat containing 6 804 binding NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 44 all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922) BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10) GCAGATTGCTGAAGGCCTCTG 0.502000 15 51 0 0 1 0 0 SCN9A 6335 broad.mit.edu 37 2 167159651 167159651 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:167159651C>T ENST00000303354.6 - 7 1193 c.853G>A c.(853-855)Gaa>Aaa p.E285K SCN9A_ENST00000409435.1_Missense_Mutation_p.E284K|SCN9A_ENST00000409672.1_Missense_Mutation_p.E284K|SCN9A_ENST00000375387.4_Missense_Mutation_p.E285K Q15858 SCN9A_HUMAN sodium channel, voltage-gated, type IX, alpha subunit 284 voltage-gated sodium channel complex voltage-gated sodium channel activity NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 108 Lamotrigine(DB00555)|Lidocaine(DB00281) TCTAATGTTTCATTATTTTCA 0.343000 6 17 0 0 1 0 0 VTN 7448 broad.mit.edu 37 17 26697287 26697287 + Translation_Start_Site SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:26697287G>C ENST00000226218.4 - 0 556 TMEM199_ENST00000509083.1_Intron|VTN_ENST00000536498.1_De_novo_Start_InFrame|SARM1_ENST00000379061.4_Intron|CTB-96E2.3_ENST00000591482.1_RNA NM_000638.3 NP_000629.3 P04004 VTNC_HUMAN vitronectin cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion alphav-beta3 integrin-vitronectin complex|extracellular space heparin binding|integrin binding|scavenger receptor activity kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1) 13 all_lung(13;0.000533)|Lung NSC(42;0.00171) UCEC - Uterine corpus endometrioid carcinoma (53;0.153) Urokinase(DB00013) TCTCCGCTCTGATGCCTGAGG 0.597000 16 36 0 0 1 0 0 C4orf21 55345 broad.mit.edu 37 4 113507724 113507724 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr4:113507724C>T ENST00000505019.1 - 13 3918 c.3793G>A c.(3793-3795)Gag>Aag p.E1265K NM_018392.4 NP_060862.3 Q86YA3 CD021_HUMAN chromosome 4 open reading frame 21 0 breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Ovarian(17;0.156) OV - Ovarian serous cystadenocarcinoma(123;0.000676) AAGCACAGCTCAGAGCCACTT 0.353000 8 47 0 0 1 0 0 MOV10 4343 broad.mit.edu 37 1 113242368 113242368 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:113242368G>A ENST00000369644.1 + 19 3506 c.2477G>A c.(2476-2478)cGa>cAa p.R826Q MOV10_ENST00000413052.2_Missense_Mutation_p.R882Q|MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000357443.2_Missense_Mutation_p.R882Q|MOV10_ENST00000369645.1_Missense_Mutation_p.R882Q Q9HCE1 MOV10_HUMAN Mov10, Moloney leukemia virus 10, homolog (mouse) 882 mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body ATP binding|helicase activity|protein binding|RNA binding breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3) 38 Lung SC(450;0.246) all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114) OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24) TCCACCGTGCGAAGCAGCCAG 0.552000 54 171 0 0 1 0 0 FBXW9 84261 broad.mit.edu 37 19 12800989 12800989 + Silent SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:12800989G>C ENST00000380339.3 - 6 945 c.909C>G c.(907-909)ctC>ctG p.L303L FBXW9_ENST00000544494.1_Intron|FBXW9_ENST00000393261.3_Intron|FBXW9_ENST00000587955.1_Silent_p.L293L Q5XUX1 FBXW9_HUMAN F-box and WD repeat domain containing 9 303 protein binding cervix(1)|lung(4)|ovary(1)|prostate(1) 7 CCCAGCCCATGAGAGCATCCC 0.612000 15 19 0 0 1 0 0 PARVB 29780 broad.mit.edu 37 22 44395417 44395417 + Missense_Mutation SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr22:44395417G>T ENST00000406477.3 + 2 205 c.75G>T c.(73-75)agG>agT p.R25S NM_001003828.2 NP_001003828.1 Q9HBI1 PARVB_HUMAN parvin, beta 0 cell adhesion|cell junction assembly cytoskeleton|cytosol|focal adhesion actin binding NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 25 Ovarian(80;0.0246)|all_neural(38;0.0423) cctgcagcaggaggctggagc 0.498000 35 105 8.73648e-17 9.26613e-17 1 1 0 PHF3 23469 broad.mit.edu 37 6 64389966 64389966 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:64389966G>A ENST00000262043.3 + 3 650 c.310G>A c.(310-312)Gaa>Aaa p.E104K PHF3_ENST00000393387.1_Missense_Mutation_p.E104K|PHF3_ENST00000509330.1_Missense_Mutation_p.E104K Q92576 PHF3_HUMAN PHD finger protein 3 104 multicellular organismal development|transcription, DNA-dependent nucleus zinc ion binding breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6) 75 all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121) LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148) TACCATTGATGAAGAAGAACT 0.333000 15 74 0 0 1 0 0 GET4 51608 broad.mit.edu 37 7 926275 926275 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:926275G>A ENST00000407192.1 + 2 2662 c.145G>A c.(145-147)Gac>Aac p.D49N GET4_ENST00000265857.3_Missense_Mutation_p.D102N Q7L5D6 GET4_HUMAN golgi to ER traffic protein 4 homolog (S. cerevisiae) 102 tail-anchored membrane protein insertion into ER membrane|transport BAT3 complex protein binding breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 GGAGGTGGCTGACGAGCTGCT 0.607000 30 76 0 0 1 0 0 AMPD3 272 broad.mit.edu 37 11 10483090 10483090 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:10483090G>A ENST00000396554.3 + 2 392 c.51G>A c.(49-51)ctG>ctA p.L17L AMPD3_ENST00000444303.2_5'UTR NM_000480.2 NP_000471.1 Q01432 AMPD3_HUMAN adenosine monophosphate deaminase 3 8 AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1) 25 all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291) TTCCCAAGCTGAACATCTCTG 0.537000 49 166 0 0 1 0 0 IL3RA 3563 broad.mit.edu 37 X 1499937 1499937 + Silent SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chrX:1499937C>G ENST00000331035.4 + 11 1351 c.1002C>G c.(1000-1002)ctC>ctG p.L334L IL3RA_ENST00000381469.2_Silent_p.L256L NM_001267713.1|NM_002183.3 NP_001254642.1|NP_002174.1 P26951 IL3RA_HUMAN interleukin 3 receptor, alpha (low affinity) 334 integral to membrane|plasma membrane interleukin-3 receptor activity lung(1)|skin(2) 3 all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122) Sargramostim(DB00020) TGCAGAGACTCTTTCCCCGCA 0.537000 95 279 0 0 1 0 0 KIAA0430 9665 broad.mit.edu 37 16 15718642 15718642 + Nonsense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr16:15718642G>A ENST00000396368.3 - 10 2460 c.2254C>T c.(2254-2256)Cag>Tag p.Q752* KIAA0430_ENST00000540441.2_Nonsense_Mutation_p.Q609*|KIAA0430_ENST00000602337.1_Nonsense_Mutation_p.Q749*|KIAA0430_ENST00000548025.1_Nonsense_Mutation_p.Q749*|KIAA0430_ENST00000344181.3_Nonsense_Mutation_p.Q430*|KIAA0430_ENST00000551742.1_Nonsense_Mutation_p.Q751* NM_001184998.1|NM_001184999.1|NM_014647.3 NP_001171927.1|NP_001171928.1|NP_055462.2 Q9Y4F3 LKAP_HUMAN KIAA0430 751 peroxisome nucleotide binding|RNA binding breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1) 40 GACCAAGACTGAGATGCGAGC 0.423000 28 97 0 0 1 0 0 POMT2 29954 broad.mit.edu 37 14 77746776 77746776 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:77746776C>T ENST00000261534.4 - 16 1886 c.1684G>A c.(1684-1686)Gag>Aag p.E562K NM_013382.5 NP_037514.2 Q9UKY4 POMT2_HUMAN protein-O-mannosyltransferase 2 562 protein O-linked glycosylation endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1) 14 Kidney(204;0.164) BRCA - Breast invasive adenocarcinoma(234;0.0292) GACGTGAACTCATTGTCCTTG 0.532000 30 64 0 0 1 0 0 TMEM145 284339 broad.mit.edu 37 19 42828958 42828958 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:42828958C>G ENST00000301204.3 + 15 1512 c.1471C>G c.(1471-1473)Cga>Gga p.R491G NM_173633.2 NP_775904.2 Q8NBT3 TM145_HUMAN transmembrane protein 145 491 integral to membrane breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1) 27 Prostate(69;0.00682) TGGCCCCCTTCGAGACCTCTG 0.716000 8 27 0 0 1 0 0 CEP250 11190 broad.mit.edu 37 20 34065903 34065903 + Nonsense_Mutation SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr20:34065903G>T ENST00000397527.1 + 17 2791 c.2071G>T c.(2071-2073)Gaa>Taa p.E691* CEP250_ENST00000342580.4_Nonsense_Mutation_p.E691*|RP3-477O4.14_ENST00000416260.1_RNA|RP3-477O4.14_ENST00000444933.1_RNA|RP3-477O4.14_ENST00000453914.1_RNA NM_007186.3 NP_009117.2 Q9BV73 CP250_HUMAN centrosomal protein 250kDa 691 Gln/Glu-rich. centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex protein C-terminus binding|protein kinase binding NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 45 Lung NSC(9;0.00156)|all_lung(11;0.00243) BRCA - Breast invasive adenocarcinoma(18;0.0106) AGAGAAGGAAGAAATTCAAAA 0.433000 4 36 0.014758 0.0148631 1 1 0 HAT1 8520 broad.mit.edu 37 2 172803292 172803292 + Silent SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:172803292C>G ENST00000264108.4 + 3 213 c.177C>G c.(175-177)ctC>ctG p.L59L SLC25A12_ENST00000472748.1_Intron|HAT1_ENST00000392584.1_Intron NM_003642.3 NP_003633.1 O14929 HAT1_HUMAN histone acetyltransferase 1 59 chromatin silencing at telomere|DNA packaging cytoplasm|nuclear matrix|nucleoplasm histone acetyltransferase activity|protein binding breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1) 19 OV - Ovarian serous cystadenocarcinoma(117;0.216) CCCATCAACTCTTTGGGGATG 0.264000 16 37 0 0 1 0 0 AMBRA1 55626 broad.mit.edu 37 11 46419000 46419000 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:46419000C>T ENST00000458649.2 - 18 4315 c.3897G>A c.(3895-3897)taG>taA p.*1299* AMBRA1_ENST00000533727.1_Silent_p.*1180*|AMBRA1_ENST00000298834.3_Silent_p.*1239*|AMBRA1_ENST00000314845.3_Silent_p.*1209*|AMBRA1_ENST00000426438.1_Silent_p.*1270*|AMBRA1_ENST00000528950.1_Silent_p.*1270*|AMBRA1_ENST00000534300.1_Silent_p.*1239* Q9C0C7 AMRA1_HUMAN autophagy/beclin-1 regulator 1 0 autophagy|cell differentiation|nervous system development autophagic vacuole|cytoplasmic vesicle NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2) 39 GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182) ACGTTTGTCTCTACCTGTTCC 0.592000 31 95 0 0 1 0 0 IQCB1 9657 broad.mit.edu 37 3 121547358 121547358 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:121547358C>T ENST00000310864.6 - 4 436 c.222G>A c.(220-222)caG>caA p.Q74Q IQCB1_ENST00000349820.6_Silent_p.Q74Q NM_001023570.2 NP_001018864.2 Q15051 IQCB1_HUMAN IQ motif containing B1 74 cilium assembly|maintenance of organ identity|photoreceptor cell maintenance centrosome|photoreceptor connecting cilium calmodulin binding NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1) 30 GBM - Glioblastoma multiforme(114;0.0983) TCCAACCACCCTGGATTCGAG 0.363000 16 50 0 0 1 0 0 DNTT 1791 broad.mit.edu 37 10 98087257 98087257 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:98087257G>A ENST00000419175.1 + 7 1077 c.907G>A c.(907-909)Gtg>Atg p.V303M DNTT_ENST00000371174.2_Missense_Mutation_p.V303M NM_001017520.1|NM_004088.3 NP_001017520.1|NP_004079.3 P04053 TDT_HUMAN DNA nucleotidylexotransferase 303 Mediates interaction with DNTTIP2. DNA modification nucleus DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1) 27 Colorectal(252;0.0815)|all_hematologic(284;0.224) Epithelial(162;7.97e-08)|all cancers(201;1.89e-06) TGTCAGCTGTGTGACCAGGGC 0.517000 73 188 0 0 1 0 0 ACIN1 22985 broad.mit.edu 37 14 23548985 23548985 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:23548985G>C ENST00000262710.1 - 6 2060 c.1733C>G c.(1732-1734)tCt>tGt p.S578C ACIN1_ENST00000605057.1_Missense_Mutation_p.S520C|ACIN1_ENST00000457657.1_Missense_Mutation_p.S538C|ACIN1_ENST00000555053.1_Missense_Mutation_p.S578C NM_001164814.1|NM_014977.3 NP_001158286.1|NP_055792 Q9UKV3 ACINU_HUMAN apoptotic chromatin condensation inducer 1 578 Ser-rich. apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation cytosol ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 37 all_cancers(95;1.36e-05) GBM - Glioblastoma multiforme(265;0.00816) GGACCGGCTAGAGGATGAATC 0.498000 26 131 0 0 1 0 0 CGN 57530 broad.mit.edu 37 1 151492649 151492649 + Nonsense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:151492649C>G ENST00000271636.7 + 3 1014 c.881C>G c.(880-882)tCa>tGa p.S294* NM_020770.2 NP_065821.1 Q9P2M7 CING_HUMAN cingulin 288 Head.|Interacts with ZO-2. myosin complex|tight junction actin binding|motor activity NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 45 Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) LUSC - Lung squamous cell carcinoma(543;0.181) CAGTTCAAATCAACTCCAGAC 0.468000 9 41 0 0 1 0 0 MYH7 4625 broad.mit.edu 37 14 23899054 23899054 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:23899054G>A ENST00000355349.3 - 12 1230 c.1068C>T c.(1066-1068)atC>atT p.I356I NM_000257.2 NP_000248.2 P12883 MYH7_HUMAN myosin, heavy chain 7, cardiac muscle, beta 356 Myosin head-like. adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5) 137 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00725) CAAAGTGCATGATGGCGCCTG 0.562000 34 99 0 0 1 0 0 ZNF568 374900 broad.mit.edu 37 19 37441842 37441842 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:37441842C>G ENST00000415168.1 + 5 1971 c.1595C>G c.(1594-1596)tCt>tGt p.S532C ZNF568_ENST00000333987.7_Missense_Mutation_p.S596C|ZNF568_ENST00000427117.1_Intron|ZNF568_ENST00000455427.2_Intron NM_001204837.1 NP_001191766.1 Q3ZCX4 ZN568_HUMAN zinc finger protein 568 596 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1) 29 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) AAAGCCTTTTCTCAGTGCTCA 0.403000 19 72 0 0 1 0 0 ANKHD1 54882 broad.mit.edu 37 5 139865267 139865267 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:139865267C>T ENST00000297183.6 + 13 2216 c.2092C>T c.(2092-2094)Ccc>Tcc p.P698S ANKHD1_ENST00000360839.2_Missense_Mutation_p.P698S|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.P698S NM_020690.5 NP_065741.3 ankyrin repeat and KH domain containing 1 breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2) 60 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCTGTCAGTTCCCACCACAGA 0.383000 19 41 0 0 1 0 0 NOS1AP 9722 broad.mit.edu 37 1 162337072 162337072 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:162337072G>C ENST00000493151.1 + 2 2818 c.451G>C c.(451-453)Gag>Cag p.E151Q NOS1AP_ENST00000361897.5_Missense_Mutation_p.E446Q|NOS1AP_ENST00000454693.1_3'UTR|RP11-565P22.6_ENST00000431696.1_Intron|NOS1AP_ENST00000530878.1_Missense_Mutation_p.E441Q NM_001126060.1 NP_001119532.2 O75052 CAPON_HUMAN nitric oxide synthase 1 (neuronal) adaptor protein 446 PID. regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity nitric-oxide synthase binding|PDZ domain binding NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2) 32 all_hematologic(112;0.203) BRCA - Breast invasive adenocarcinoma(70;0.0537) AGCGCAGGGCGAGGCGCTCCT 0.667000 17 56 0 0 1 0 0 DENND6B 414918 broad.mit.edu 37 22 50753332 50753332 + Silent SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr22:50753332C>G ENST00000413817.3 - 10 848 c.777G>C c.(775-777)ctG>ctC p.L259L XX-C283C717.1_ENST00000453835.1_RNA NM_001001794.3 NP_001001794.3 DENN/MADD domain containing 6B GCATATGAGTCAGCACAGGCC 0.672000 12 36 0 0 1 0 0 RASA2 5922 broad.mit.edu 37 3 141328358 141328358 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:141328358G>A ENST00000286364.3 + 22 2357 c.2322G>A c.(2320-2322)aaG>aaA p.K774K RASA2_ENST00000452898.1_Silent_p.K775K|RASA2_ENST00000509118.1_3'UTR Q15283 RASA2_HUMAN RAS p21 protein activator 2 774 intracellular signal transduction|negative regulation of Ras protein signal transduction intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm metal ion binding|Ras GTPase activator activity NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 34 AGCTGCAGAAGATGGAAGGTA 0.313000 16 27 0 0 1 0 0 ADCY4 196883 broad.mit.edu 37 14 24801006 24801006 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:24801006C>T ENST00000310677.4 - 5 770 c.657G>A c.(655-657)gaG>gaA p.E219E ADCY4_ENST00000418030.2_Silent_p.E219E|ADCY4_ENST00000396747.3_5'UTR|ADCY4_ENST00000554068.2_Silent_p.E219E NM_001198568.1|NM_001198592.1|NM_139247.3 NP_001185497.1|NP_001185521.1|NP_640340.2 Q8NFM4 ADCY4_HUMAN adenylate cyclase 4 219 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to membrane|plasma membrane adenylate cyclase activity|ATP binding|metal ion binding|protein binding cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(265;0.0192) GGTGCTTCTTCTCGGTGTCCA 0.637000 11 27 0 0 1 0 0 CC2D2A 57545 broad.mit.edu 37 4 15602891 15602891 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr4:15602891C>G ENST00000424120.1 + 37 4960 c.4706C>G c.(4705-4707)tCt>tGt p.S1569C CC2D2A_ENST00000389652.5_Missense_Mutation_p.S1461C|CC2D2A_ENST00000413206.1_Missense_Mutation_p.S1569C|CC2D2A_ENST00000503292.1_Missense_Mutation_p.S1569C Q9P2K1 C2D2A_HUMAN coiled-coil and C2 domain containing 2A 1569 cell projection organization cilium|microtubule basal body NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2) 32 ATGCCTTATTCTGAAGTGAAG 0.333000 6 14 0 0 1 0 0 FN3K 64122 broad.mit.edu 37 17 80708323 80708323 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:80708323G>C ENST00000300784.7 + 6 684 c.622G>C c.(622-624)Gag>Cag p.E208Q NM_022158.3 NP_071441.1 Q9H479 FN3K_HUMAN fructosamine 3 kinase 208 fructoselysine metabolic process fructosamine-3-kinase activity central_nervous_system(1)|kidney(1)|lung(1)|urinary_tract(1) 4 Breast(20;0.000523)|all_neural(118;0.0952) BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061) TTGTGGCCTAGAGATTGTCCC 0.582000 34 102 0 0 1 0 0 NFIX 4784 broad.mit.edu 37 19 13135824 13135824 + Missense_Mutation SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:13135824G>T ENST00000358552.3 + 1 14 c.14G>T c.(13-15)tGc>tTc p.C5F NFIX_ENST00000360105.4_Intron|NFIX_ENST00000587260.1_Missense_Mutation_p.C5F|NFIX_ENST00000588228.1_Intron|NFIX_ENST00000585575.1_Intron|NFIX_ENST00000397661.2_Intron|NFIX_ENST00000592199.1_Intron|NFIX_ENST00000587760.1_Intron Q14938 NFIX_HUMAN nuclear factor I/X (CCAAT-binding transcription factor) 6 DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1) 11 OV - Ovarian serous cystadenocarcinoma(19;8.2e-22) CTCCCGGCTTGCCGCCTGCAG 0.632000 4 6 0.0215528 0.0216805 1 1 0 CCDC178 374864 broad.mit.edu 37 18 30913193 30913193 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr18:30913193G>C ENST00000383096.3 - 10 1006 c.824C>G c.(823-825)tCt>tGt p.S275C CCDC178_ENST00000300227.8_Missense_Mutation_p.S275C|CCDC178_ENST00000583930.1_Missense_Mutation_p.S275C|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000403303.1_Missense_Mutation_p.S275C|CCDC178_ENST00000406524.2_Missense_Mutation_p.S275C|CCDC178_ENST00000579947.1_Missense_Mutation_p.S275C|CCDC178_ENST00000402325.1_Missense_Mutation_p.S275C coiled-coil domain containing 178 ATTCTGCTTAGAGTCCAGTAG 0.328000 9 40 0 0 1 0 0 MYO18B 84700 broad.mit.edu 37 22 26176157 26176157 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr22:26176157C>G ENST00000335473.7 + 9 2453 c.2203C>G c.(2203-2205)Cag>Gag p.Q735E MYO18B_ENST00000536101.1_Missense_Mutation_p.Q735E|MYO18B_ENST00000407587.2_Missense_Mutation_p.Q735E NM_032608.5 NP_115997.5 Q8IUG5 MY18B_HUMAN myosin XVIIIB 735 Myosin head-like. nucleus|sarcomere|unconventional myosin complex actin binding|ATP binding|motor activity NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 146 CACAGCTGCTCAGCTCCAGGT 0.657000 6 22 0 0 1 0 0 PELP1 27043 broad.mit.edu 37 17 4574817 4574817 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:4574817C>T ENST00000301396.4 - 17 3967 c.3742G>A c.(3742-3744)Gac>Aac p.D1248N PELP1_ENST00000436683.2_Missense_Mutation_p.D880N|PELP1_ENST00000269230.7_Missense_Mutation_p.D1014N|PELP1_ENST00000574876.1_Missense_Mutation_p.D1104N|PELP1_ENST00000572293.1_Missense_Mutation_p.D1154N Q8IZL8 PELP1_HUMAN proline, glutamate and leucine rich protein 1 1104 transcription, DNA-dependent cytoplasm|MLL1 complex protein binding breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1) 15 GCAGCTGTGTCATCCTGCTCC 0.512000 7 33 0 0 1 0 0 MCTP1 79772 broad.mit.edu 37 5 94278072 94278072 + Silent SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:94278072C>G ENST00000515393.1 - 4 1040 c.1041G>C c.(1039-1041)ctG>ctC p.L347L MCTP1_ENST00000429576.2_Silent_p.L126L|MCTP1_ENST00000312216.8_Silent_p.L126L|MCTP1_ENST00000505208.1_Silent_p.L126L NM_024717.4 NP_078993.4 Q6DN14 MCTP1_HUMAN multiple C2 domains, transmembrane 1 347 calcium-mediated signaling integral to membrane|membrane fraction calcium ion binding breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1) 41 all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207) all cancers(79;9.1e-17) CCAATTGTGTCAGATCCAGAA 0.413000 18 45 0 0 1 0 0 CDC42BPA 8476 broad.mit.edu 37 1 227204633 227204633 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:227204633C>G ENST00000366769.3 - 32 5920 c.4629G>C c.(4627-4629)caG>caC p.Q1543H CDC42BPA_ENST00000535525.1_Missense_Mutation_p.Q1523H|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.Q1578H|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.Q1515H|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.Q1543H|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.Q1556H|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.Q1462H NM_003607.3 NP_003598.2 Q5VT25 MRCKA_HUMAN CDC42 binding protein kinase alpha (DMPK-like) 1556 actin cytoskeleton reorganization|intracellular signal transduction cell leading edge|cell-cell junction|cytoplasm ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2) 77 all_cancers(173;0.156)|Prostate(94;0.0792) TCTACCTCCTCTGCTGCATCC 0.398000 15 48 0 0 1 0 0 ZC3H18 124245 broad.mit.edu 37 16 88694373 88694373 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr16:88694373G>C ENST00000301011.5 + 15 2515 c.2315G>C c.(2314-2316)aGg>aCg p.R772T ZC3H18_ENST00000452588.2_Missense_Mutation_p.R796T NM_144604.3 NP_653205.3 Q86VM9 ZCH18_HUMAN zinc finger CCCH-type containing 18 772 nucleus nucleic acid binding|zinc ion binding endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 42 BRCA - Breast invasive adenocarcinoma(80;0.0542) AAGCGGAAAAGGGATTCGTCC 0.547000 35 96 0 0 1 0 0 SLC22A20 440044 broad.mit.edu 37 11 64985056 64985056 + RNA SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:64985056C>T ENST00000525437.1 + 0 569 A6NK97 S22AK_HUMAN ion transport integral to membrane transmembrane transporter activity central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2) 8 CTGGCAGCTTCGGGGGCCGCC 0.602000 13 27 0 0 1 0 0 COX10 1352 broad.mit.edu 37 17 13980182 13980182 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:13980182C>T ENST00000261643.3 + 3 385 c.308C>T c.(307-309)tCa>tTa p.S103L COX10_ENST00000537334.1_Intron|COX10_ENST00000429152.2_Missense_Mutation_p.S103L|COX10_ENST00000536205.1_5'UTR NM_001303.3 NP_001294.2 Q12887 COX10_HUMAN cytochrome c oxidase assembly homolog 10 (yeast) 103 heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly integral to membrane|mitochondrial membrane protoheme IX farnesyltransferase activity cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 14 all_lung(20;0.06)|Lung SC(565;0.168) UCEC - Uterine corpus endometrioid carcinoma (92;0.106) AGACCTCTCTCACCGCCCAGC 0.428000 11 61 0 0 1 0 0 HIST1H4L 8368 broad.mit.edu 37 6 27840978 27840978 + Nonstop_Mutation SNP C C A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:27840978C>A ENST00000355981.2 - 1 311 c.311G>T c.(310-312)tGa>tTa p.*104L NM_003546.2 NP_003537.1 P62805 H4_HUMAN histone cluster 1, H4l 0 CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance nucleoplasm|nucleosome DNA binding|protein binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 13 GTAAAACACTCAGCCGCCAAA 0.512000 9 57 2.17888e-05 2.22209e-05 1 1 0 ITSN2 50618 broad.mit.edu 37 2 24524067 24524067 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:24524067G>A ENST00000355123.4 - 11 1480 c.1037C>T c.(1036-1038)tCa>tTa p.S346L ITSN2_ENST00000406921.3_Missense_Mutation_p.S346L|ITSN2_ENST00000361999.3_Missense_Mutation_p.S346L NM_006277.2 NP_006268.2 Q9NZM3 ITSN2_HUMAN intersectin 2 346 endocytosis|regulation of Rho protein signal transduction cytoplasm calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1) 61 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TTTCTGATATGAAGGCAGAGT 0.338000 17 35 0 0 1 0 0 RPS28 6234 broad.mit.edu 37 19 8386542 8386542 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:8386542C>T ENST00000600659.2 + 2 73 c.42C>T c.(40-42)gtC>gtT p.V14V NM_001031.4 NP_001022.1 P62857 RS28_HUMAN ribosomal protein S28 14 endocrine pancreas development|ribosomal small subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit protein binding|structural constituent of ribosome TCCTCCAGGTCACCAAGGTCC 0.637000 6 18 0 0 1 0 0 NPHS2 7827 broad.mit.edu 37 1 179526245 179526245 + Nonsense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:179526245G>A ENST00000367615.4 - 5 723 c.655C>T c.(655-657)Caa>Taa p.Q219* NPHS2_ENST00000367616.4_Intron NM_014625.2 NP_055440.1 Q9NP85 PODO_HUMAN nephrosis 2, idiopathic, steroid-resistant (podocin) 219 excretion integral to plasma membrane protein binding NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3) 20 ATAGTGGTTTGCACAAGGAAT 0.423000 8 41 0 0 1 0 0 GRIN1 2902 broad.mit.edu 37 9 140051410 140051410 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:140051410G>C ENST00000371561.3 + 6 1986 c.889G>C c.(889-891)Gag>Cag p.E297Q GRIN1_ENST00000350902.5_Missense_Mutation_p.E297Q|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000371559.4_Missense_Mutation_p.E297Q|GRIN1_ENST00000371555.4_Missense_Mutation_p.E318Q|GRIN1_ENST00000371560.3_Missense_Mutation_p.E318Q|GRIN1_ENST00000371546.4_Missense_Mutation_p.E318Q|GRIN1_ENST00000371550.4_Missense_Mutation_p.E297Q|GRIN1_ENST00000371553.3_Missense_Mutation_p.E318Q|GRIN1_ENST00000315048.3_Missense_Mutation_p.E297Q NM_007327.3 NP_015566.1 Q05586 NMDZ1_HUMAN glutamate receptor, ionotropic, N-methyl D-aspartate 1 297 ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 15 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.0878) OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095) L-Glutamic Acid(DB00142)|Orphenadrine(DB01173) CGAGCTCCTCGAGAAGGAGAA 0.682000 13 26 0 0 1 0 0 KCNU1 157855 broad.mit.edu 37 8 36698504 36698504 + Silent SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:36698504C>G ENST00000399881.3 + 16 1723 c.1686C>G c.(1684-1686)ctC>ctG p.L562L NM_001031836.2 NP_001027006.2 A8MYU2 KCNU1_HUMAN potassium channel, subfamily U, member 1 562 voltage-gated potassium channel complex binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1) 57 KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634) ACAAGTCCCTCTTTACGGATG 0.403000 15 39 0 0 1 0 0 GALNT11 63917 broad.mit.edu 37 7 151802337 151802337 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:151802337G>A ENST00000434507.1 + 7 1031 c.594G>A c.(592-594)ttG>ttA p.L198L GALNT11_ENST00000422997.2_3'UTR|GALNT11_ENST00000430044.2_Silent_p.L198L|GALNT11_ENST00000452146.2_Silent_p.L117L|GALNT11_ENST00000320311.2_Silent_p.L198L Q8NCW6 GLT11_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11) 198 Catalytic subdomain A. Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2) 27 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.214) OV - Ovarian serous cystadenocarcinoma(82;0.00168) UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932) CAGATGATTTGAAAGGAGAAC 0.328000 10 44 0 0 1 0 0 VPS29 51699 broad.mit.edu 37 12 110933819 110933819 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:110933819C>T ENST00000549578.1 - 2 258 c.193G>A c.(193-195)Gag>Aag p.E65K VPS29_ENST00000447578.2_5'UTR|VPS29_ENST00000549970.1_5'UTR|VPS29_ENST00000552130.2_5'UTR|VPS29_ENST00000546588.1_Missense_Mutation_p.E97K|VPS29_ENST00000360579.7_Missense_Mutation_p.E69K NM_016226.3 NP_057310.1 Q9UBQ0 VPS29_HUMAN vacuolar protein sorting 29 homolog (S. cerevisiae) 65 protein transport endosome membrane metal ion binding|phosphoserine phosphatase activity kidney(1)|large_intestine(1)|lung(1)|prostate(1) 4 TACATCACCTCATCGAAGTCT 0.403000 24 50 0 0 1 0 0 MED12 9968 broad.mit.edu 37 X 70338683 70338683 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chrX:70338683C>G ENST00000333646.6 + 1 278 c.79C>G c.(79-81)Cag>Gag p.Q27E MED12_ENST00000374080.3_Missense_Mutation_p.Q27E|MED12_ENST00000374102.1_Missense_Mutation_p.Q27E NM_005120.2 NP_005111.2 Q93074 MED12_HUMAN mediator complex subunit 12 27 androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3) 420 Renal(35;0.156) TGTTTACCCTCAGGACCCCAA 0.677000 """M, S""" uterine leiomyoma Opitz-Kaveggia Syndrome 12 14 0 0 1 0 0 GOLGA2 2801 broad.mit.edu 37 9 131030767 131030767 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:131030767C>T ENST00000421699.2 - 3 256 c.244G>A c.(244-246)Gat>Aat p.D82N GOLGA2_ENST00000609374.1_Missense_Mutation_p.D70N NM_004486.4 NP_004477.3 Q08379 GOGA2_HUMAN golgin A2 82 Golgi cisterna membrane protein binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 34 ACGGTGTCATCAGATGGTTGT 0.592000 11 35 0 0 1 0 0 DEK 7913 broad.mit.edu 37 6 18249902 18249902 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:18249902C>G ENST00000397239.3 - 7 1189 c.742G>C c.(742-744)Gat>Cat p.D248H DEK_ENST00000244776.7_Missense_Mutation_p.D214H NM_003472.3 NP_003463.1 P35659 DEK_HUMAN DEK oncogene 248 Asp/Glu-rich (acidic). chromatin modification|regulation of transcription from RNA polymerase II promoter|signal transduction|transcription from RNA polymerase II promoter|viral genome replication nucleus DNA binding|histone binding endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 7 Ovarian(93;0.00769)|Breast(50;0.0495) all_hematologic(90;0.053) OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332) CTTTCTTTATCTTCATCATCT 0.333000 T NUP214 AML 7 23 0 0 1 0 0 GPR179 440435 broad.mit.edu 37 17 36486362 36486362 + Missense_Mutation SNP C C A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:36486362C>A ENST00000342292.4 - 11 3110 c.3090G>T c.(3088-3090)tgG>tgT p.W1030C NM_001004334.2 NP_001004334.2 Q6PRD1 GP179_HUMAN G protein-coupled receptor 179 1030 integral to membrane|plasma membrane G-protein coupled receptor activity breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 Breast(7;2.97e-12) Breast(25;0.0101)|Ovarian(249;0.15) AGAGGGCCCTCCAGAGCCTGG 0.602000 28 77 1.2476e-16 1.32241e-16 1 1 0 PLEKHH2 130271 broad.mit.edu 37 2 43924477 43924477 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:43924477G>A ENST00000282406.4 + 7 780 c.670G>A c.(670-672)Gaa>Aaa p.E224K NM_172069.3 NP_742066.2 Q8IVE3 PKHH2_HUMAN pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 224 cytoplasm|cytoskeleton|integral to membrane binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) TGAGTTCACTGAAGGAAAAGA 0.358000 15 44 0 0 1 0 0 CHP2 63928 broad.mit.edu 37 16 23767007 23767007 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr16:23767007G>A ENST00000300113.2 + 2 516 c.93G>A c.(91-93)ctG>ctA p.L31L NM_022097.2 NP_071380.1 O43745 CHP2_HUMAN calcineurin-like EF-hand protein 2 31 EF-hand 1. calcium ion binding central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1) 9 GBM - Glioblastoma multiforme(48;0.0144) TGCTCCGCCTGCACCACCGGT 0.637000 22 87 0 0 1 0 0 DLX4 1748 broad.mit.edu 37 17 48046847 48046847 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:48046847C>T ENST00000240306.3 + 1 310 c.15C>T c.(13-15)ccC>ccT p.P5P DLX4_ENST00000503410.1_Intron|DLX4_ENST00000505318.2_Silent_p.P5P NM_138281.2 NP_612138.1 Q92988 DLX4_HUMAN distal-less homeobox 4 5 MTSLPCPLPGRDASKAVFPDLAPVPSVAAAYPLGLSPTTAA SPNLSYSRPYGHLLSYPYTEPANPGDSYLSCQQPAALSQPL CGPAEHPQELEA -> GGSLSLPPEPLCARCPTKEGAAPRR PGFWGSLETQAATVWRGRHGHFSCRVRLSRGAARYSRRGQG KPGVTISAARLVFKVLSAGPLTHPAGRSRRLPRGHRLKPLS IALSLCLQCPSSVISRPRLSPGPSLSAPPYPKLAPPPVAEL RPPTAGAAVPWLWPSARFLPRVTGPIRVGAPLGAELRLVSP GAVNVGVETLHAE (in Ref. 9). multicellular organismal development nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(3) 10 CCTCTTTGCCCTGCCCCCTCC 0.677000 39 164 0 0 1 0 0 LAMA3 3909 broad.mit.edu 37 18 21453131 21453131 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr18:21453131C>T ENST00000269217.6 + 1 328 c.123C>T c.(121-123)ccC>ccT p.P41P LAMA3_ENST00000399516.3_Intron|LAMA3_ENST00000313654.9_Intron|LAMA3_ENST00000587184.1_Silent_p.P41P NM_000227.3 NP_000218.2 Q16787 LAMA3_HUMAN laminin, alpha 3 0 cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4) 128 all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TTCAGCCTCCCGGTCAAAGTC 0.522000 56 150 0 0 1 0 0 SLC9A7P1 121456 broad.mit.edu 37 12 98849480 98849480 + RNA SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr12:98849480G>A ENST00000554295.1 - 0 1443 NR_033801.1 ATCGTGTGTTGAAAATTCCAG 0.532000 5 40 0 0 1 0 0 EXPH5 23086 broad.mit.edu 37 11 108382527 108382527 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:108382527G>A ENST00000265843.4 - 6 3817 c.3707C>T c.(3706-3708)tCt>tTt p.S1236F EXPH5_ENST00000428840.1_Missense_Mutation_p.S1160F|EXPH5_ENST00000525344.1_Missense_Mutation_p.S1229F|EXPH5_ENST00000443411.1_Missense_Mutation_p.S1048F NM_015065.2 NP_055880 Q149M6 Q149M6_HUMAN exophilin 5 1236 intracellular protein transport Rab GTPase binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1) 91 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) ACCAGAAACAGAAAACGTACT 0.373000 19 61 0 0 1 0 0 ZNF750 79755 broad.mit.edu 37 17 80789532 80789532 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:80789532C>G ENST00000269394.3 - 2 1632 c.799G>C c.(799-801)Gag>Cag p.E267Q TBCD_ENST00000539345.2_Intron|ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000355528.4_Intron|TBCD_ENST00000397466.2_Intron NM_024702.2 NP_078978.2 Q32MQ0 ZN750_HUMAN zinc finger protein 750 267 intracellular zinc ion binding NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 31 Breast(20;0.000523)|all_neural(118;0.0779) all_cancers(8;0.0514)|all_epithelial(8;0.0748) OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149) GCGTCACACTCAGGCGAGCTC 0.612000 38 118 0 0 1 0 0 FAM134A 79137 broad.mit.edu 37 2 220046485 220046485 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:220046485G>A ENST00000430297.2 + 8 1139 c.1003G>A c.(1003-1005)Gat>Aat p.D335N NM_024293.4 NP_077269.3 Q8NC44 F134A_HUMAN family with sequence similarity 134, member A 335 endoplasmic reticulum|integral to membrane central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2) 19 Renal(207;0.0915) Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GCAGCTGACTGATGTCTCCGA 0.577000 21 88 0 0 1 0 0 ZER1 10444 broad.mit.edu 37 9 131515056 131515056 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:131515056G>A ENST00000291900.2 - 5 1225 c.819C>T c.(817-819)ctC>ctT p.L273L NM_006336.2 NP_006327.2 Q7Z7L7 ZER1_HUMAN zyg-11 related, cell cycle regulator 273 ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1) 15 TCTGCACAAAGAGGCTCAGCA 0.557000 13 70 0 0 1 0 0 CEBPZ 10153 broad.mit.edu 37 2 37458641 37458641 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:37458641C>G ENST00000234170.5 - 1 215 c.70G>C c.(70-72)Gat>Cat p.D24H NM_005760.2 NP_005751.2 Q03701 CEBPZ_HUMAN CCAAT/enhancer binding protein (C/EBP), zeta 24 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter nucleus DNA binding breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1) 28 all_hematologic(82;0.21) TCGTCCGGATCTTCTACTGCC 0.602000 34 103 0 0 1 0 0 EP300 2033 broad.mit.edu 37 22 41513766 41513766 + Nonsense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr22:41513766C>T ENST00000263253.7 + 2 1889 c.670C>T c.(670-672)Cag>Tag p.Q224* NM_001429.3 NP_001420.2 Q09472 EP300_HUMAN E1A binding protein p300 224 apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia centrosome|histone acetyltransferase complex androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16) 171 TGAGCCTCTTCAGCAGGGCTC 0.532000 """T, N, F, Mis, O""" """MLL, RUNXBP2""" """colorectal, breast, pancreatic, AML, ALL, DLBCL""" Rubinstein-Taybi syndrome 16 34 0 0 1 0 0 RPS6KC1 26750 broad.mit.edu 37 1 213414278 213414278 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:213414278G>A ENST00000366960.3 + 11 1609 c.1459G>A c.(1459-1461)Gaa>Aaa p.E487K RPS6KC1_ENST00000366959.3_Missense_Mutation_p.E475K|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.E275K|RPS6KC1_ENST00000543354.1_Missense_Mutation_p.E190K NM_012424.3 NP_036556.2 Q96S38 KS6C1_HUMAN ribosomal protein S6 kinase, 52kDa, polypeptide 1 487 cell communication|signal transduction early endosome|membrane ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3) 43 OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145) CAGCAACCAGGAAGATGATGG 0.413000 20 71 0 0 1 0 0 GADL1 339896 broad.mit.edu 37 3 30880497 30880497 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:30880497G>A ENST00000454381.3 - 9 941 c.895C>T c.(895-897)Cat>Tat p.H299Y GADL1_ENST00000282538.5_Missense_Mutation_p.H299Y Q6ZQY3 GADL1_HUMAN glutamate decarboxylase-like 1 299 carboxylic acid metabolic process carboxy-lyase activity|pyridoxal phosphate binding breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1) 25 Pyridoxal Phosphate(DB00114) ACATCTACATGAAGCCAGAGG 0.418000 4 65 0 0 1 0 0 NOTCH2NL 388677 broad.mit.edu 37 1 145273377 145273377 + Silent SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:145273377G>C ENST00000369340.3 + 4 675 c.231G>C c.(229-231)ctG>ctC p.L77L NOTCH2NL_ENST00000344859.3_Silent_p.L77L|RP11-458D21.5_ENST00000468030.1_Silent_p.L77L|NOTCH2NL_ENST00000362074.6_Silent_p.L77L Q7Z3S9 NT2NL_HUMAN notch 2 N-terminal like 77 EGF-like 3. cell differentiation|multicellular organismal development|Notch signaling pathway cytoplasm|extracellular region calcium ion binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 27 GACCTTGCCTGAATGGCGGCA 0.532000 40 574 0 0 1 0 0 ZSCAN10 84891 broad.mit.edu 37 16 3139503 3139503 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr16:3139503G>A ENST00000252463.2 - 5 1854 c.1767C>T c.(1765-1767)agC>agT p.S589S ZSCAN10_ENST00000538082.2_Silent_p.S507S|ZSCAN10_ENST00000575108.1_Silent_p.S250S NM_032805.1 NP_116194.1 Q96SZ4 ZSC10_HUMAN zinc finger and SCAN domain containing 10 589 negative regulation of transcription, DNA-dependent|viral reproduction nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1) 24 GGGCGCTCTGGCTGAAGCCCT 0.697000 10 43 0 0 1 0 0 DHX30 22907 broad.mit.edu 37 3 47868907 47868907 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:47868907C>T ENST00000446256.2 + 6 650 c.78C>T c.(76-78)ctC>ctT p.L26L DHX30_ENST00000457607.1_Silent_p.L93L|DHX30_ENST00000348968.4_Silent_p.L37L|DHX30_ENST00000445061.1_Silent_p.L65L NM_014966.3 NP_055781.2 Q7L2E3 DHX30_HUMAN DEAH (Asp-Glu-Ala-His) box helicase 30 65 mitochondrial nucleoid ATP binding|ATP-dependent helicase activity|protein binding|RNA binding endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3) 37 BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007) GAAGAGCCCTCGGCATCTCAC 0.418000 23 59 0 0 1 0 0 SRSF6 6431 broad.mit.edu 37 20 42088739 42088739 + Missense_Mutation SNP G G T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr20:42088739G>T ENST00000244020.3 + 4 554 c.448G>T c.(448-450)Gta>Tta p.V150L NM_006275.5 NP_006266.2 Q13247 SRSF6_HUMAN serine/arginine-rich splicing factor 6 150 RRM 2. mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription nucleoplasm nucleotide binding|protein binding|RNA binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2) 5 AAATGAGGGTGTAATTGAGTT 0.428000 13 61 2.27111e-07 2.35148e-07 1 1 0 MED13 9969 broad.mit.edu 37 17 60140470 60140470 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:60140470C>T ENST00000397786.2 - 2 335 c.259G>A c.(259-261)Gaa>Aaa p.E87K NM_005121.2 NP_005112.2 Q9UHV7 MED13_HUMAN mediator complex subunit 13 87 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 88 CTGGGGTCTTCACCCCACCAA 0.418000 28 69 0 0 1 0 0 NOTCH1 4851 broad.mit.edu 37 9 139396271 139396271 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:139396271G>A ENST00000277541.6 - 30 5642 c.5567C>T c.(5566-5568)tCt>tTt p.S1856F NM_017617.3 NP_060087.3 P46531 NOTC1_HUMAN notch 1 1856 aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane calcium ion binding|protein binding|receptor activity breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3) 1359 all_cancers(76;0.223) Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06) GGCCATGGCAGACATGCGCAG 0.652000 """T, Mis, O""" TRB@ T-ALL HNSCC(8;0.001) 14 47 0 0 1 0 0 TMEM71 137835 broad.mit.edu 37 8 133740098 133740098 + Nonsense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:133740098G>A ENST00000356838.3 - 6 707 c.565C>T c.(565-567)Cag>Tag p.Q189* TMEM71_ENST00000377901.4_Intron|TMEM71_ENST00000523829.1_Nonsense_Mutation_p.Q208* NM_144649.2 NP_653250.2 Q6P5X7 TMM71_HUMAN transmembrane protein 71 208 integral to membrane endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2) 16 all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;4.46e-05) AACTGGGACTGAAGAGACAAG 0.463000 38 112 0 0 1 0 0 ASH1L 55870 broad.mit.edu 37 1 155319120 155319120 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:155319120C>T ENST00000368346.3 - 19 8206 c.7567G>A c.(7567-7569)Gag>Aag p.E2523K ASH1L_ENST00000392403.3_Missense_Mutation_p.E2518K Q9NR48 ASH1L_HUMAN ash1 (absent, small, or homeotic)-like (Drosophila) 2523 Bromo. cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter chromosome|Golgi apparatus|nucleus|tight junction DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4) 124 Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145) Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021) AAAAATACCTCAGCATTCCGA 0.378000 15 44 0 0 1 0 0 NALCN 259232 broad.mit.edu 37 13 101997647 101997647 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr13:101997647C>G ENST00000251127.6 - 7 850 c.769G>C c.(769-771)Gag>Cag p.E257Q NALCN_ENST00000376196.3_Missense_Mutation_p.E257Q|NALCN_ENST00000470333.1_5'UTR NM_052867.2 NP_443099.1 Q8IZF0 NALCN_HUMAN sodium leak channel, non-selective 257 integral to membrane sodium channel activity|voltage-gated ion channel activity p.E257*(1) NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 177 all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) TAGCCCAGCTCTTGCCTGCTA 0.418000 45 107 0 0 1 0 0 AGO3 192669 broad.mit.edu 37 1 36475127 36475127 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:36475127C>G ENST00000373191.4 + 9 1430 c.1081C>G c.(1081-1083)Cag>Gag p.Q361E RP4-665N4.8_ENST00000479395.2_RNA|RP4-665N4.8_ENST00000466576.2_RNA|AGO3_ENST00000246314.6_Missense_Mutation_p.Q127E NM_024852.3 NP_079128.2 argonaute RISC catalytic component 3 AACAGACAATCAGACTTCCAC 0.343000 13 40 0 0 1 0 0 ETV4 2118 broad.mit.edu 37 17 41610076 41610076 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr17:41610076G>A ENST00000319349.5 - 8 1075 c.777C>T c.(775-777)atC>atT p.I259I ETV4_ENST00000591713.1_Silent_p.I259I|ETV4_ENST00000545954.1_Silent_p.I220I|ETV4_ENST00000538265.1_Silent_p.I220I|ETV4_ENST00000393664.2_Silent_p.I259I|ETV4_ENST00000545089.1_Silent_p.I205I NM_001079675.2 NP_001073143.1 P43268 ETV4_HUMAN ets variant 4 259 positive regulation of transcription, DNA-dependent nucleolus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2) ovary(2)|upper_aerodigestive_tract(1) 3 Breast(137;0.00908) BRCA - Breast invasive adenocarcinoma(366;0.0798) GTTCCTGTTTGATCACCACCC 0.587000 T """EWSR1, TMPRSS2, DDX5, KLK2, CANT1""" """Ewing sarcoma, Prostate carcinoma""" 31 98 0 0 1 0 0 FZR1 51343 broad.mit.edu 37 19 3527044 3527044 + Missense_Mutation SNP C C A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:3527044C>A ENST00000441788.2 + 6 690 c.454C>A c.(454-456)Ccc>Acc p.P152T FZR1_ENST00000395095.3_Missense_Mutation_p.P152T|FZR1_ENST00000313639.8_Intron NM_016263.3 NP_057347.2 Q9UM11 FZR_HUMAN fizzy/cell division cycle 20 related 1 (Drosophila) 152 activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle cytosol|nucleoplasm protein binding endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2) 13 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18) CTCCCTGTCTCCCGTCAGCAA 0.642000 32 112 6.05902e-23 6.45459e-23 1 1 0 OR6B3 150681 broad.mit.edu 37 2 240984886 240984886 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr2:240984886G>C ENST00000319423.4 - 1 603 c.604C>G c.(604-606)Ctg>Gtg p.L202V NM_173351.1 NP_775486.1 Q8NGW1 OR6B3_HUMAN olfactory receptor, family 6, subfamily B, member 3 202 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|large_intestine(10)|lung(4)|ovary(2)|prostate(1) 18 all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238) Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141) ATGAAGGCCAGAATGAAATCC 0.577000 15 71 0 0 1 0 0 UBR5 51366 broad.mit.edu 37 8 103266703 103266703 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:103266703C>T ENST00000520539.1 - 59 8833 c.8227G>A c.(8227-8229)Gaa>Aaa p.E2743K UBR5_ENST00000518205.1_Missense_Mutation_p.E471K|UBR5_ENST00000521922.1_Missense_Mutation_p.E2736K|UBR5_ENST00000220959.4_Missense_Mutation_p.E2742K NM_001282873.1|NM_015902.5 NP_001269802.1|NP_056986.2 O95071 UBR5_HUMAN ubiquitin protein ligase E3 component n-recognin 5 2743 HECT.|Pro-rich. cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus nucleus|soluble fraction protein binding|RNA binding|ubiquitin-ubiquitin ligase activity|zinc ion binding NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2) 124 all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05) OV - Ovarian serous cystadenocarcinoma(57;0.000442) AATCCTTCTTCACTGGCTGGC 0.418000 15 46 0 0 1 0 0 PRKCSH 5589 broad.mit.edu 37 19 11558333 11558333 + Missense_Mutation SNP C C T rs142627856 TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr19:11558333C>T ENST00000252455.2 + 11 1265 c.929C>T c.(928-930)tCg>tTg p.S310L PRKCSH_ENST00000591462.1_Missense_Mutation_p.S310L|PRKCSH_ENST00000589838.1_Missense_Mutation_p.S310L|PRKCSH_ENST00000592741.1_Missense_Mutation_p.S310L|PRKCSH_ENST00000412601.1_Missense_Mutation_p.S310L|PRKCSH_ENST00000587327.1_Missense_Mutation_p.S310L NM_002743.2 NP_002734.2 P14314 GLU2B_HUMAN protein kinase C substrate 80K-H 310 innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen calcium ion binding|protein kinase C binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3) 19 GTGCCCTCGTCGCCCACAgag 0.657000 6 35 0 0 1 0 0 OR8K3 219473 broad.mit.edu 37 11 56086160 56086160 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:56086160C>T ENST00000312711.1 + 1 378 c.378C>T c.(376-378)atC>atT p.I126I NM_001005202.1 NP_001005202.1 Q8NH51 OR8K3_HUMAN olfactory receptor, family 8, subfamily K, member 3 126 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 40 Esophageal squamous(21;0.00448) ATGTGGCCATCTGTAACCCTC 0.413000 20 62 0 0 1 0 0 USP8 9101 broad.mit.edu 37 15 50769684 50769684 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr15:50769684G>A ENST00000433963.1 + 11 1706 c.1206G>A c.(1204-1206)aaG>aaA p.K402K USP8_ENST00000396444.3_Silent_p.K402K|USP8_ENST00000425032.3_Silent_p.K325K|USP8_ENST00000307179.4_Silent_p.K402K P40818 UBP8_HUMAN ubiquitin specific peptidase 8 402 cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process cytosol|early endosome|extrinsic to plasma membrane|nucleus cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 35 all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771) CTAGTATAAAGAATGTTCCAC 0.373000 20 81 0 0 1 0 0 LPA 4018 broad.mit.edu 37 6 161015047 161015047 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:161015047G>A ENST00000447678.1 - 23 3692 c.3572C>T c.(3571-3573)tCt>tTt p.S1191F LPA_ENST00000316300.5_Missense_Mutation_p.S1191F NM_005577.2 NP_005568.2 P08519 APOA_HUMAN lipoprotein, Lp(a) 3699 Kringle 11. blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis plasma lipoprotein particle apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1) 107 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) Aminocaproic Acid(DB00513) AGAGGACCAAGACTGACATGT 0.498000 34 84 0 0 1 0 0 ANKRD26 22852 broad.mit.edu 37 10 27294520 27294520 + Nonstop_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:27294520C>G ENST00000376087.4 - 34 5297 c.5132G>C c.(5131-5133)tGa>tCa p.*1711S ANKRD26_ENST00000436985.2_Nonstop_Mutation_p.*1727S|ANKRD26_ENST00000376070.3_Nonstop_Mutation_p.*1268S NM_001256053.1|NM_014915.2 NP_001242982.1|NP_055730.2 Q9UPS8 ANR26_HUMAN ankyrin repeat domain 26 0 centrosome breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2) 70 TCTTATCTTTCAGATCATATA 0.279000 17 55 0 0 1 0 0 CAPNS2 84290 broad.mit.edu 37 16 55601337 55601337 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr16:55601337C>G ENST00000457326.2 + 1 754 c.669C>G c.(667-669)ttC>ttG p.F223L LPCAT2_ENST00000565056.1_Intron|LPCAT2_ENST00000262134.5_Intron NM_032330.1 NP_115706.1 Q96L46 CPNS2_HUMAN calpain, small subunit 2 223 EF-hand 4. cytoplasm|plasma membrane calcium ion binding central_nervous_system(1)|large_intestine(1)|lung(3)|prostate(2) 7 TTCGTGCCTTCAAGTCTCTGG 0.443000 58 153 0 0 1 0 0 HTT 3064 broad.mit.edu 37 4 3213724 3213724 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr4:3213724G>A ENST00000355072.5 + 48 6628 c.6483G>A c.(6481-6483)aaG>aaA p.K2161K NM_002111.6 NP_002102 P42858 HD_HUMAN huntingtin 2161 establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 87 all_epithelial(65;0.18) UCEC - Uterine corpus endometrioid carcinoma (64;0.187) GTGGCCAGAAGAGTGCCCTTT 0.532000 26 94 0 0 1 0 0 PNPLA7 375775 broad.mit.edu 37 9 140437939 140437939 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:140437939C>G ENST00000406427.1 - 6 787 c.451G>C c.(451-453)Gac>Cac p.D151H PNPLA7_ENST00000277531.4_Missense_Mutation_p.D126H NM_001098537.1 NP_001092007.1 Q6ZV29 PLPL7_HUMAN patatin-like phospholipase domain containing 7 126 lipid metabolic process endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane hydrolase activity breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 40 all_cancers(76;0.126) OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839) TTCTTCACGTCAAACTCCGTG 0.597000 43 106 0 0 1 0 0 OR5K3 403277 broad.mit.edu 37 3 98109713 98109713 + Silent SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr3:98109713G>C ENST00000383695.1 + 1 204 c.204G>C c.(202-204)ctG>ctC p.L68L RP11-325B23.2_ENST00000508616.1_lincRNA NM_001005516.1 NP_001005516.1 A6NET4 OR5K3_HUMAN olfactory receptor, family 5, subfamily K, member 3 68 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1) 27 ACCTAGTTCTGATGGATTCCT 0.398000 52 209 0 0 1 0 0 ATP2B4 493 broad.mit.edu 37 1 203667470 203667470 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:203667470G>A ENST00000357681.5 + 3 1502 c.379G>A c.(379-381)Gaa>Aaa p.E127K ATP2B4_ENST00000367218.3_Missense_Mutation_p.E127K|ATP2B4_ENST00000367219.3_Missense_Mutation_p.E127K|ATP2B4_ENST00000391954.2_Missense_Mutation_p.E127K|ATP2B4_ENST00000341360.2_Missense_Mutation_p.E127K NM_001684.4 NP_001675.3 P23634 AT2B4_HUMAN ATPase, Ca++ transporting, plasma membrane 4 127 ATP biosynthetic process|platelet activation integral to plasma membrane ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3) 56 all_cancers(21;0.071)|all_epithelial(62;0.228) BRCA - Breast invasive adenocarcinoma(75;0.109) CCCTGCTGGTGAAGAAAATGA 0.488000 27 76 0 0 1 0 0 SEC24A 10802 broad.mit.edu 37 5 134060783 134060783 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr5:134060783G>A ENST00000398844.2 + 23 3569 c.3281G>A c.(3280-3282)tGa>tAa p.*1094* NM_021982.2 NP_068817.1 O95486 SC24A_HUMAN SEC24 family member A 0 COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm zinc ion binding NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 36 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) GTGAATAAATGAATGAATGAA 0.308000 6 18 0 0 1 0 0 PNLIPRP1 5407 broad.mit.edu 37 10 118354358 118354358 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:118354358G>C ENST00000528052.1 + 5 518 c.447G>C c.(445-447)caG>caC p.Q149H PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.Q149H|PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.Q149H P54315 LIPR1_HUMAN pancreatic lipase-related protein 1 149 lipid metabolic process calcium ion binding|triglyceride lipase activity breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 38 all cancers(201;0.0161) AGGTGGCCCAGATGCTCGACA 0.587000 11 49 0 0 1 0 0 AGTPBP1 23287 broad.mit.edu 37 9 88247959 88247959 + Nonsense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:88247959G>A ENST00000357081.3 - 14 1777 c.1633C>T c.(1633-1635)Caa>Taa p.Q545* AGTPBP1_ENST00000376083.3_Nonsense_Mutation_p.Q505*|AGTPBP1_ENST00000432218.1_Nonsense_Mutation_p.Q383*|AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000376109.3_Nonsense_Mutation_p.Q557* Q9UPW5 CBPC1_HUMAN ATP/GTP binding protein 1 545 C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis cytosol|mitochondrion|nucleus metallocarboxypeptidase activity|tubulin binding|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3) 44 GGGGCTGTTTGAGAAGGAATA 0.423000 15 56 0 0 1 0 0 TRAV8-7 28679 broad.mit.edu 37 14 22600699 22600699 + RNA SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr14:22600699G>A ENST00000390456.3 + 0 50 GTTGCAGGAGGAACCAGAACC 0.463000 18 42 0 0 1 0 0 TESK2 10420 broad.mit.edu 37 1 45811142 45811142 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:45811142G>C ENST00000372086.3 - 11 1486 c.1086C>G c.(1084-1086)atC>atG p.I362M TESK2_ENST00000341771.6_Missense_Mutation_p.I333M|TESK2_ENST00000538496.1_Missense_Mutation_p.I279M|TESK2_ENST00000372084.1_Missense_Mutation_p.I333M|TESK2_ENST00000486676.1_5'UTR NM_007170.2 NP_009101.2 Q96S53 TESK2_HUMAN testis-specific kinase 2 362 actin cytoskeleton organization|focal adhesion assembly|spermatogenesis nucleus ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 32 Acute lymphoblastic leukemia(166;0.155) GAGACAGCCAGATGGTACGTC 0.537000 15 57 0 0 1 0 0 DPYD 1806 broad.mit.edu 37 1 98186463 98186463 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:98186463G>C ENST00000306031.5 - 6 629 c.503C>G c.(502-504)tCt>tGt p.S168C DPYD_ENST00000423006.2_Intron|DPYD_ENST00000370192.3_Intron|DPYD_ENST00000474241.1_5'UTR NM_001160301.1 NP_001153773 Q12882 DPYD_HUMAN dihydropyrimidine dehydrogenase 0 'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process cytosol 4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1) 83 all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994) Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216) Capecitabine(DB01101)|Enfuvirtide(DB00109) ATTCATTAAAGAGAAAGCCAG 0.353000 6 18 0 0 1 0 0 NEFL 4747 broad.mit.edu 37 8 24811727 24811727 + RNA SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:24811727C>G ENST00000221169.5 - 0 1731 P07196 NFL_HUMAN neurofilament, light polypeptide anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission cytosol|neurofilament identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2) 21 Ovarian(32;0.00965)|Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) CCAAAGCCATCTTCACGTTGA 0.393000 36 139 0 0 1 0 0 MAN1A1 4121 broad.mit.edu 37 6 119669725 119669725 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:119669725C>G ENST00000368468.3 - 2 947 c.506G>C c.(505-507)aGa>aCa p.R169T MAN1A1_ENST00000368466.2_Missense_Mutation_p.R169T NM_005907.3 NP_005898.2 P33908 MA1A1_HUMAN mannosidase, alpha, class 1A, member 1 169 post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3) 24 all_epithelial(87;0.173) OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115) GGGCAGGCCTCTGAACGGCGC 0.632000 28 99 0 0 1 0 0 SCUBE2 57758 broad.mit.edu 37 11 9111371 9111371 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:9111371C>G ENST00000457346.2 - 2 213 c.139G>C c.(139-141)Gat>Cat p.D47H SCUBE2_ENST00000520467.1_Missense_Mutation_p.D47H|SCUBE2_ENST00000534295.1_5'UTR|SCUBE2_ENST00000450649.2_Missense_Mutation_p.D47H|SCUBE2_ENST00000309263.3_Missense_Mutation_p.D47H Q9NQ36 SCUB2_HUMAN signal peptide, CUB domain, EGF-like 2 47 EGF-like 1; calcium-binding (Potential). extracellular region calcium ion binding breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 42 all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116) GCACACTCATCTACATCTGCA 0.597000 27 106 0 0 1 0 0 CDH23 64072 broad.mit.edu 37 10 73437306 73437306 + Silent SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:73437306G>A ENST00000224721.6 + 15 1628 c.1623G>A c.(1621-1623)cgG>cgA p.R541R CDH23_ENST00000299366.7_Silent_p.R581R NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 536 Cadherin 5. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 TCATTGCCCGGGACGGGGGCG 0.602000 8 18 0 0 1 0 0 GGT7 2686 broad.mit.edu 37 20 33439105 33439105 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr20:33439105C>T ENST00000336431.5 - 13 1698 c.1654G>A c.(1654-1656)Gag>Aag p.E552K GGT7_ENST00000469018.1_5'UTR NM_178026.2 NP_821158.2 Q9UJ14 GGT7_HUMAN gamma-glutamyltransferase 7 552 glutathione biosynthetic process integral to membrane acyltransferase activity|gamma-glutamyltransferase activity NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2) 20 CAGAGCCCCTCCGCGGGTCGG 0.622000 28 67 0 0 1 0 0 SFRP2 6423 broad.mit.edu 37 4 154702903 154702903 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr4:154702903C>T ENST00000274063.4 - 3 872 c.588G>A c.(586-588)ctG>ctA p.L196L NM_003013.2 NP_003004.1 Q96HF1 SFRP2_HUMAN secreted frizzled-related protein 2 196 NTR. brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development cytoplasm|extracellular matrix|extracellular space|plasma membrane fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 16 all_hematologic(180;0.093) Renal(120;0.117) CTTTTATTTTCAGTGCTATGA 0.458000 30 98 0 0 1 0 0 TAT 6898 broad.mit.edu 37 16 71610277 71610277 + Silent SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr16:71610277G>C ENST00000355962.4 - 2 175 c.42C>G c.(40-42)ctC>ctG p.L14L RP11-432I5.1_ENST00000561529.1_RNA NM_000353.2 NP_000344.1 P17735 ATTY_HUMAN tyrosine aminotransferase 14 2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process cytosol 1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3) 29 Ovarian(137;0.125) Kidney(780;0.0157) L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114) GAATTGAGGGGAGGTTGCCTT 0.527000 20 76 0 0 1 0 0 CTSV 1515 broad.mit.edu 37 9 99795232 99795232 + Silent SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr9:99795232C>T ENST00000259470.5 - 8 1253 c.1004G>A c.(1003-1005)tGa>tAa p.*335* CTSV_ENST00000538255.1_Silent_p.*335* NM_001333.3 NP_001324.2 cathepsin V TCCATCAGCTCACACATTGGG 0.468000 11 51 0 0 1 0 0 PARP6 56965 broad.mit.edu 37 15 72558264 72558264 + Missense_Mutation SNP G G C TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr15:72558264G>C ENST00000569795.1 - 5 837 c.150C>G c.(148-150)atC>atG p.I50M PARP6_ENST00000413097.2_5'UTR|PARP6_ENST00000287196.9_Missense_Mutation_p.I50M|PARP6_ENST00000260376.7_Missense_Mutation_p.I50M Q2NL67 PARP6_HUMAN poly (ADP-ribose) polymerase family, member 6 50 NAD+ ADP-ribosyltransferase activity NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1) 18 TCTCACTGTAGATCTCCTTCA 0.498000 15 56 0 0 1 0 0 TMEM52 339456 broad.mit.edu 37 1 1850628 1850636 + In_Frame_Del DEL AGCGGCAGG AGCGGCAGG - TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr1:1850628_1850636delAGCGGCAGG ENST00000310991.3 - 1 76_84 c.69_77delCCTGCCGCT c.(67-78)ctcctgccgctg>ctg p.23_26LLPL>L NM_178545.3 NP_848640.1 Q8NDY8 TMM52_HUMAN transmembrane protein 52 23 integral to membrane NS(1)|prostate(1)|stomach(1) 3 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) CACCTgcggcagcggcaggagcggcagga 0.766 5 3 --- --- --- --- HLA-A 3105 broad.mit.edu 37 6 29910640 29910640 + Frame_Shift_Del DEL C C - rs75855780 byFrequency TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:29910640delC ENST00000396634.1 + 4 521 c.180delC c.(178-180)ttcfs p.F60fs HLA-A_ENST00000376806.5_Frame_Shift_Del_p.F60fs|HLA-A_ENST00000376802.2_Frame_Shift_Del_p.F60fs|HLA-A_ENST00000376809.5_Frame_Shift_Del_p.F60fs P30443 1A01_HUMAN major histocompatibility complex, class I, A 60 Alpha-1. antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway integral to plasma membrane|MHC class I protein complex MHC class I receptor activity central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 30 TCGTGCGGTTCGACAGCGACG 0.667 Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of Multiple Myeloma(9;0.094) 19 68 --- --- --- --- PPP1R18 170954 broad.mit.edu 37 6 30653003 30653003 + Frame_Shift_Del DEL A A - TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr6:30653003delA ENST00000274853.3 - 1 2669 c.793delT c.(793-795)tcafs p.S265fs PPP1R18_ENST00000399199.3_Frame_Shift_Del_p.S265fs|PPP1R18_ENST00000488324.1_Intron NM_133471.3 NP_597728.1 Q6NYC8 PHTNS_HUMAN protein phosphatase 1, regulatory subunit 18 265 cytoplasm|cytoskeleton actin binding TCTTCTCCTGACCTCAGCCTC 0.522 9 396 --- --- --- --- TYW1B 441250 broad.mit.edu 37 7 72280990 72280991 + RNA DEL AC AC - rs6960315 TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr7:72280990_72280991delAC ENST00000438904.2 - 0 531 TYW1B_ENST00000435769.2_RNA|TYW1B_ENST00000438125.1_RNA Q6NUM6 TYW1B_HUMAN tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity gtgtgtgtgtacgtgtgtgtgc 0.381 9 85 --- --- --- --- ARFGEF1 10565 broad.mit.edu 37 8 68150658 68150658 + Frame_Shift_Del DEL G G - TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:68150658delG ENST00000262215.3 - 22 3598 c.3209delC c.(3208-3210)tctfs p.S1070fs ARFGEF1_ENST00000520381.1_Frame_Shift_Del_p.S524fs|ARFGEF1_ENST00000518230.1_5'UTR NM_006421.4 NP_006412.2 Q9Y6D6 BIG1_HUMAN ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) 1070 exocytosis|regulation of ARF protein signal transduction cytoplasm ARF guanyl-nucleotide exchange factor activity|myosin binding breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 65 Breast(64;0.214) Lung NSC(129;0.0908)|all_lung(136;0.152) Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206) CACTGTTCCAGAAATGTATCG 0.398 15 49 --- --- --- --- CSMD3 114788 broad.mit.edu 37 8 113504853 113504853 + Frame_Shift_Del DEL T T - TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr8:113504853delT ENST00000297405.5 - 31 5387 c.5143delA c.(5143-5145)atgfs p.M1715fs CSMD3_ENST00000343508.3_Frame_Shift_Del_p.M1675fs|CSMD3_ENST00000455883.2_Frame_Shift_Del_p.M1611fs|CSMD3_ENST00000352409.3_Frame_Shift_Del_p.M1715fs NM_198123.1 NP_937756.1 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 1715 Sushi 9. integral to membrane|plasma membrane breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7) 646 TTATAATCCATTCCAAGTCTG 0.373 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) 22 83 --- --- --- --- EIF4EBP2 1979 broad.mit.edu 37 10 72179690 72179691 + Frame_Shift_Del DEL AG AG - TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:72179690_72179691delAG ENST00000373218.4 + 2 189_190 c.166_167delAG c.(166-168)agafs p.R56fs NM_004096.4 NP_004087.1 Q13542 4EBP2_HUMAN eukaryotic translation initiation factor 4E binding protein 2 56 negative regulation of translational initiation|translation eukaryotic initiation factor 4E binding large_intestine(1) 1 CATTTATGACAGAAAGTTTCTG 0.421 29 112 --- --- --- --- PNLIPRP2 5408 broad.mit.edu 37 10 118396277 118396278 + RNA INS - - T rs148140777 by1000genomes TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr10:118396277_118396278insT ENST00000537242.1 + 0 962 PNLIPRP2_ENST00000298771.7_RNA|PNLIPRP2_ENST00000433618.4_RNA NM_005396.4 NP_005387.2 P54317 LIPR2_HUMAN pancreatic lipase-related protein 2 galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process extracellular space acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity endometrium(1)|large_intestine(1)|lung(11)|prostate(3) 16 all cancers(201;0.015) GACAAATTATGGTTTTTTTTTT 0.421 6 7 --- --- --- --- MYEOV 26579 broad.mit.edu 37 11 69063227 69063257 + Frame_Shift_Del DEL GGTGACCGGGAGAGAAACAAGGGAGACAAGG GGTGACCGGGAGAGAAACAAGGGAGACAAGG - TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr11:69063227_69063257delGGTGACCGGGAGAGAAACAAGGGAGACAAGG ENST00000535407.1 + 2 779_809 c.136_166delGGTGACCGGGAGAGAAACAAGGGAGACAAGG c.(136-168)ggtgaccgggagagaaacaagggagacaagggtfs p.GDRERNKGDKG46fs MYEOV_ENST00000308946.3_Frame_Shift_Del_p.GDRERNKGDKG104fs|MYEOV_ENST00000441339.2_Frame_Shift_Del_p.GDRERNKGDKG104fs Q96EZ4 MYEOV_HUMAN myeloma overexpressed 104 p.R106M(1) endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1) 24 all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128) LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713) Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153) TGCTGGAGCTGGTGACCGGGAGAGAAACAAGGGAGACAAGGGTGCCCAGAC 0.636 17 154 --- --- --- --- ANKRD11 29123 broad.mit.edu 37 16 89348573 89348573 + Frame_Shift_Del DEL C C - TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 08aa63b7-bc56-419b-b07b-a3fabf2463f2 daddf34c-2e30-4c6e-8895-6a84a389f760 g.chr16:89348573delC ENST00000301030.4 - 9 4837 c.4377delG c.(4375-4377)aagfs p.K1461fs ANKRD11_ENST00000378330.2_Frame_Shift_Del_p.K1461fs NM_001256183.1|NM_013275.5 NP_001243112.1|NP_037407.4 Q6UB99 ANR11_HUMAN ankyrin repeat domain 11 1461 Lys-rich. nucleus breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 83 all_hematologic(23;0.00824)|Colorectal(91;0.0475) Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142) ctctcttcttcttctctttTA 0.468 30 76 --- --- --- ---