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 KAT6A 7994 broad.mit.edu 37 8 41790659 41790659 + Silent SNP T T G TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr8:41790659T>G ENST00000396930.3 - 18 5622 c.5079A>C c.(5077-5079)ccA>ccC p.P1693P KAT6A_ENST00000406337.1_Silent_p.P1693P|KAT6A_ENST00000265713.2_Silent_p.P1693P NM_001099412.1 NP_001092882.1 Q92794 MYST3_HUMAN K(lysine) acetyltransferase 6A 1693 Gln/Pro-rich. histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MOZ/MORF histone acetyltransferase complex|nucleosome DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding ggggagggggtgggggtggag 0.627000 6 9 0 0 1 0 0 TENM3 55714 broad.mit.edu 37 4 183714137 183714137 + Missense_Mutation SNP T T G TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr4:183714137T>G ENST00000511685.1 + 26 6435 c.6312T>G c.(6310-6312)atT>atG p.I2104M TENM3_ENST00000406950.2_Missense_Mutation_p.I2104M teneurin transmembrane protein 3 GGATTACAATTCAGTATGATA 0.413000 16 32 0 0 1 0 0 PM20D2 135293 broad.mit.edu 37 6 89855956 89855956 + Silent SNP C C T TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr6:89855956C>T ENST00000275072.4 + 1 188 c.93C>T c.(91-93)atC>atT p.I31I NM_001010853.1 NP_001010853.1 Q8IYS1 P20D2_HUMAN peptidase M20 domain containing 2 31 hydrolase activity breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|skin(1) 12 all_cancers(76;9.47e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114) BRCA - Breast invasive adenocarcinoma(108;0.00813) CGGAGTGCATCGACGAGGCGG 0.726000 9 11 0 0 1 0 0 ESRP2 80004 broad.mit.edu 37 16 68267928 68267928 + Missense_Mutation SNP C C T TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr16:68267928C>T ENST00000473183.2 - 3 948 c.410G>A c.(409-411)cGa>cAa p.R137Q ESRP2_ENST00000565858.1_Missense_Mutation_p.R137Q Q9H6T0 ESRP2_HUMAN epithelial splicing regulatory protein 2 137 mRNA processing|regulation of RNA splicing|RNA splicing nucleus mRNA binding|nucleotide binding NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2) 16 CAGGACCTGTCGCAATAGCTG 0.612000 15 25 0 0 1 0 0 HCN4 10021 broad.mit.edu 37 15 73616457 73616457 + Missense_Mutation SNP C C G TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr15:73616457C>G ENST00000261917.3 - 7 3109 c.2116G>C c.(2116-2118)Gtg>Ctg p.V706L NM_005477.2 NP_005468.1 Q9Y3Q4 HCN4_HUMAN hyperpolarization activated cyclic nucleotide-gated potassium channel 4 706 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) TCCAGCGCCACGGTCTCGAAG 0.657000 5 113 0 0 1 0 0 C1GALT1 56913 broad.mit.edu 37 7 7273969 7273969 + Missense_Mutation SNP C C A TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr7:7273969C>A ENST00000436587.2 + 2 242 c.19C>A c.(19-21)Ctg>Atg p.L7M C1GALT1_ENST00000223122.3_Missense_Mutation_p.L7M|C1GALT1_ENST00000402468.3_Missense_Mutation_p.L7M NM_020156.3 NP_064541.1 Q9NS00 C1GLT_HUMAN core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1 7 angiogenesis|cell differentiation|kidney development integral to membrane glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity|metal ion binding breast(1)|kidney(1)|lung(3)|prostate(1)|urinary_tract(1) 7 UCEC - Uterine corpus endometrioid carcinoma (126;0.177) TAAATCCTGGCTGAATTTTTT 0.353000 4 34 0.000602214 0.000611394 1 1 0 HMGB3 3149 broad.mit.edu 37 X 150156360 150156360 + Silent SNP G G A TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chrX:150156360G>A ENST00000325307.7 + 5 672 c.576G>A c.(574-576)gaG>gaA p.E192E HMGB3_ENST00000448905.2_Silent_p.E192E NM_005342.2 NP_005333.2 O15347 HMGB3_HUMAN high mobility group box 3 192 Asp/Glu-rich (acidic). DNA recombination|multicellular organismal development chromosome|nucleus DNA bending activity|double-stranded DNA binding p.E192E(1) endometrium(3)|large_intestine(2)|lung(2)|skin(1) 8 Acute lymphoblastic leukemia(192;6.56e-05) aggaagaagaggaggaggagg 0.443000 3 37 0 0 1 0 0 PRDM16 63976 broad.mit.edu 37 1 3102904 3102904 + Missense_Mutation SNP G G A TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr1:3102904G>A ENST00000378398.3 + 2 335 c.253G>A c.(253-255)Gag>Aag p.E85K PRDM16_ENST00000442529.2_Missense_Mutation_p.E85K|PRDM16_ENST00000511072.1_Missense_Mutation_p.E85K|PRDM16_ENST00000514189.1_Missense_Mutation_p.E85K|PRDM16_ENST00000378391.2_Missense_Mutation_p.E85K|PRDM16_ENST00000441472.2_Missense_Mutation_p.E85K|PRDM16_ENST00000270722.5_Missense_Mutation_p.E85K Q9HAZ2 PRD16_HUMAN PR domain containing 16 85 SET. 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) AGCAGACTTCGAGCTCCGAGA 0.667000 T EVI1 """MDS, AML""" 4 140 0 0 1 0 0 KLHL34 257240 broad.mit.edu 37 X 21675859 21675859 + Silent SNP G G T TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chrX:21675859G>T ENST00000379499.2 - 1 589 c.48C>A c.(46-48)ctC>ctA p.L16L NM_153270.1 NP_695002.1 Q8N239 KLH34_HUMAN kelch-like family member 34 16 cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1) 26 GGTAGCCGGTGAGCAGCGCGC 0.662000 29 5 7.68411e-24 8.55789e-24 1 1 0 SOX6 55553 broad.mit.edu 37 11 16071351 16071351 + Missense_Mutation SNP C C A TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr11:16071351C>A ENST00000352083.6 - 11 1462 c.1385G>T c.(1384-1386)aGc>aTc p.S462I SOX6_ENST00000316399.6_Missense_Mutation_p.S462I|SOX6_ENST00000527619.1_Missense_Mutation_p.S424I|SOX6_ENST00000396356.3_Missense_Mutation_p.S462I|SOX6_ENST00000528429.1_Missense_Mutation_p.S462I|SOX6_ENST00000528252.1_Missense_Mutation_p.S421I P35712 SOX6_HUMAN SRY (sex determining region Y)-box 6 462 muscle organ development nucleus sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2) 43 AGGGATGCTGCTTTTGTTTGG 0.507000 43 252 2.77807e-22 3.08366e-22 1 1 0 STX8 9482 broad.mit.edu 37 17 9460777 9460777 + Missense_Mutation SNP C C A TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr17:9460777C>A ENST00000306357.4 - 3 613 c.186G>T c.(184-186)ttG>ttT p.L62F STX8_ENST00000573373.1_5'UTR|STX8_ENST00000574431.1_5'UTR NM_004853.2 NP_004844.1 Q9UNK0 STX8_HUMAN syntaxin 8 transport endoplasmic reticulum|integral to plasma membrane central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(1) 12 CAGCTCTTAGCAATAAGTCCT 0.393000 21 6 8.10497e-08 8.48728e-08 1 1 0 CDHR2 54825 broad.mit.edu 37 5 176011257 176011257 + Missense_Mutation SNP C C T TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr5:176011257C>T ENST00000510636.1 + 18 2399 c.2125C>T c.(2125-2127)Cca>Tca p.P709S CDHR2_ENST00000261944.5_Missense_Mutation_p.P709S|CDHR2_ENST00000506348.1_Missense_Mutation_p.P709S NM_001171976.1 NP_001165447.1 Q9BYE9 CDHR2_HUMAN cadherin-related family member 2 709 Cadherin 7. homophilic cell adhesion|negative regulation of cell growth apical plasma membrane|cell junction|integral to membrane calcium ion binding|protein binding breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1) 56 GGAGGAGGATCCAGGTATGTG 0.567000 24 34 0 0 1 0 0 SLC46A2 57864 broad.mit.edu 37 9 115649691 115649691 + Nonsense_Mutation SNP G G A TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr9:115649691G>A ENST00000374228.4 - 2 1363 c.1132C>T c.(1132-1134)Cga>Tga p.R378* NM_033051.3 NP_149040.3 Q9BY10 TSCOT_HUMAN solute carrier family 46, member 2 378 integral to membrane|plasma membrane symporter activity central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1) 18 ATGACGGCTCGAGCTGAAAGA 0.498000 12 18 0 0 1 0 0 EIF2B2 8892 broad.mit.edu 37 14 75471447 75471447 + Silent SNP A A C TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr14:75471447A>C ENST00000266126.5 + 4 521 c.441A>C c.(439-441)acA>acC p.T147T RP11-950C14.3_ENST00000554430.1_RNA NM_014239.3 NP_055054.1 P49770 EI2BB_HUMAN eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa 147 cellular response to stimulus|myelination|oligodendrocyte development|ovarian follicle development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus cytosol|eukaryotic translation initiation factor 2B complex ATP binding|GTP binding|protein binding|translation initiation factor activity endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1) 11 BRCA - Breast invasive adenocarcinoma(234;0.00661) CAGAAGGGACAATGGAGAACA 0.353000 28 34 0 0 1 0 0 NCOR2 9612 broad.mit.edu 37 12 124819826 124819826 + Splice_Site SNP C C T TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr12:124819826C>T ENST00000356219.3 - 41 6442 c.6287G>A c.(6286-6288)gGc>gAc p.G2096D NCOR2_ENST00000404621.1_Splice_Site_p.G2079D|NCOR2_ENST00000405201.1_Splice_Site_p.G2089D|NCOR2_ENST00000404121.2_Splice_Site_p.G1650D|NCOR2_ENST00000429285.2_Splice_Site_p.G2079D|NCOR2_ENST00000397355.1_Splice_Site_p.G2080D NM_006312.5 NP_006303.4 Q9Y618 NCOR2_HUMAN nuclear receptor corepressor 2 2100 cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent nuclear body|nucleus|transcriptional repressor complex DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 69 all_neural(191;0.0804)|Medulloblastoma(191;0.163) Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764) CTTCACGGGGCCTGCAGGCAG 0.701000 6 10 0 0 1 0 0 PCDHGA9 56107 broad.mit.edu 37 5 140783294 140783294 + Missense_Mutation SNP A A G TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr5:140783294A>G ENST00000573521.1 + 1 775 c.775A>G c.(775-777)Acc>Gcc p.T259A PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron NM_018921.2|NM_032089.1 NP_061744.1|NP_114478.1 endometrium(1)|kidney(1)|lung(3) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GCCCCCAGGCACCTGGCTGCT 0.458000 4 110 0 0 1 0 0 SCNN1A 6337 broad.mit.edu 37 12 6483632 6483632 + Silent SNP G G A rs148261445 by1000genomes TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr12:6483632G>A ENST00000358945.3 - 1 758 c.318C>T c.(316-318)ttC>ttT p.F106F SCNN1A_ENST00000543768.1_Silent_p.F129F|SCNN1A_ENST00000538979.1_Intron|SCNN1A_ENST00000228916.2_Silent_p.F106F|SCNN1A_ENST00000360168.3_Silent_p.F165F|SCNN1A_ENST00000396966.2_Silent_p.F106F P37088 SCNNA_HUMAN sodium channel, non-voltage-gated 1 alpha subunit 106 excretion|response to stimulus|sensory perception of taste apical plasma membrane WW domain binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 27 Amiloride(DB00594)|Triamterene(DB00384) AGTACTCTCCGAAAAGCAGGC 0.572000 31 42 0 0 1 0 0 BCL7A 605 broad.mit.edu 37 12 122492803 122492803 + Missense_Mutation SNP C C G TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr12:122492803C>G ENST00000538010.1 + 5 3202 c.532C>G c.(532-534)Ctg>Gtg p.L178V BCL7A_ENST00000261822.4_Missense_Mutation_p.L178V NM_020993.3 NP_066273.1 Q4VC05 BCL7A_HUMAN B-cell CLL/lymphoma 7A 178 negative regulation of transcription, DNA-dependent haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 18 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000202)|Epithelial(86;0.000386)|BRCA - Breast invasive adenocarcinoma(302;0.231) AGACTCGGGTCTGGCCGCAGA 0.577000 T MYC BNHL OREG0022214 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 24 140 0 0 1 0 0 TMEM2 23670 broad.mit.edu 37 9 74365172 74365172 + Missense_Mutation SNP G G T TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr9:74365172G>T ENST00000377044.4 - 2 657 c.118C>A c.(118-120)Cct>Act p.P40T TMEM2_ENST00000377066.5_Missense_Mutation_p.P40T NM_001135820.1|NM_013390.2 NP_001129292.1|NP_037522.1 Q9UHN6 TMEM2_HUMAN transmembrane protein 2 40 integral to membrane central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2) 56 all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255) GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16) CTCTTTGGAGGAGGAGGGGGA 0.532000 33 57 2.09667e-21 2.31957e-21 1 1 0 SLC22A14 9389 broad.mit.edu 37 3 38347576 38347576 + Missense_Mutation SNP T T C TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr3:38347576T>C ENST00000273173.4 + 1 150 c.59T>C c.(58-60)tTg>tCg p.L20S SLC22A14_ENST00000448498.1_Missense_Mutation_p.L20S NM_004803.3 NP_004794.2 Q9Y267 S22AE_HUMAN solute carrier family 22, member 14 20 integral to plasma membrane organic cation transmembrane transporter activity central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1) 21 KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696) TCCAGGAACTTGAACCAGCAT 0.527000 87 85 0 0 1 0 0 OR13C3 138803 broad.mit.edu 37 9 107298497 107298497 + Missense_Mutation SNP C C A TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr9:107298497C>A ENST00000374781.2 - 1 640 c.598G>T c.(598-600)Ggg>Tgg p.G200W NM_001001961.1 NP_001001961.1 Q8NGS6 O13C3_HUMAN olfactory receptor, family 13, subfamily C, member 3 200 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.G200W(1) endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1) 19 ATATTATTCCCACAGAAAGGC 0.423000 54 84 1.83081e-24 2.04584e-24 1 1 0 SLC35B4 84912 broad.mit.edu 37 7 133994157 133994157 + Missense_Mutation SNP T T G TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr7:133994157T>G ENST00000378509.4 - 2 451 c.152A>C c.(151-153)gAa>gCa p.E51A NM_032826.4 NP_116215.1 Q969S0 S35B4_HUMAN solute carrier family 35 (UDP-xylose/UDP-N-acetylglucosamine transporter), member B4 51 Golgi membrane|integral to membrane UDP-N-acetylglucosamine transmembrane transporter activity|UDP-xylose transmembrane transporter activity large_intestine(1)|lung(2)|skin(1)|stomach(1) 5 CAAATCAGCTTCAAAGAGGAA 0.388000 5 8 0 0 1 0 0 CXCL16 58191 broad.mit.edu 37 17 4637924 4637924 + Missense_Mutation SNP C C A TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr17:4637924C>A ENST00000293778.6 - 5 1221 c.799G>T c.(799-801)Gtg>Ttg p.V267L CXCL16_ENST00000574412.1_Missense_Mutation_p.V267L|CXCL16_ENST00000576153.1_5'UTR NM_022059.2 NP_071342.2 Q9H2A7 CXL16_HUMAN chemokine (C-X-C motif) ligand 16 248 lymphocyte chemotaxis|positive regulation of cell growth|positive regulation of cell migration|receptor-mediated endocytosis|response to interferon-gamma|response to tumor necrosis factor extracellular space|integral to membrane|plasma membrane chemokine activity|low-density lipoprotein receptor activity|scavenger receptor activity large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 5 TCAGGTGCCACAGGTATATAA 0.438000 44 14 6.68952e-21 7.37619e-21 1 1 0 MLKL 197259 broad.mit.edu 37 16 74729419 74729419 + Silent SNP G G A TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr16:74729419G>A ENST00000308807.7 - 2 700 c.237C>T c.(235-237)ttC>ttT p.F79F MLKL_ENST00000306247.7_Silent_p.F79F NM_152649.2 NP_689862.1 Q8NB16 MLKL_HUMAN mixed lineage kinase domain-like 79 ATP binding|protein binding|protein kinase activity breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2) 19 ATCTATTGCTGAACTTTTCTA 0.493000 53 71 0 0 1 0 0 TMEM14B 81853 broad.mit.edu 37 6 10751451 10751451 + Missense_Mutation SNP C C A TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr6:10751451C>A ENST00000467317.1 + 4 281 c.186C>A c.(184-186)aaC>aaA p.N62K RP11-637O19.3_ENST00000480294.1_Intron|TMEM14B_ENST00000475942.1_Missense_Mutation_p.N62K|TMEM14B_ENST00000379542.5_Missense_Mutation_p.N62K|TMEM14B_ENST00000379530.3_Intron|SYCP2L_ENST00000543878.1_Intron|TMEM14B_ENST00000491103.1_3'UTR|TMEM14B_ENST00000481240.1_Intron|TMEM14B_ENST00000473276.1_Intron|TMEM14B_ENST00000461342.1_Intron Q9NUH8 TM14B_HUMAN transmembrane protein 14B 62 integral to membrane NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(2)|skin(2) 11 Ovarian(93;0.107)|Breast(50;0.137) all_hematologic(90;0.135) ATCCAAGGAACGTTTGGGGTT 0.537000 59 19 2.73361e-28 3.1068e-28 1 1 0 ZDHHC3 51304 broad.mit.edu 37 3 44986696 44986696 + Missense_Mutation SNP C C T TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr3:44986696C>T ENST00000296127.3 - 3 668 c.395G>A c.(394-396)tGc>tAc p.C132Y ZDHHC3_ENST00000342790.4_Missense_Mutation_p.C166Y|ZDHHC3_ENST00000424952.2_Missense_Mutation_p.C132Y NM_016598.2 NP_057682.1 Q9NYG2 ZDHC3_HUMAN zinc finger, DHHC-type containing 3 132 Golgi membrane|integral to membrane zinc ion binding endometrium(1)|large_intestine(3)|lung(4) 8 BRCA - Breast invasive adenocarcinoma(193;0.00943)|KIRC - Kidney renal clear cell carcinoma(197;0.053)|Kidney(197;0.0665) GATGCTGCAGCATTTGGGGCA 0.572000 61 79 0 0 1 0 0 PTF1A 256297 broad.mit.edu 37 10 23481532 23481532 + Missense_Mutation SNP G G T TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr10:23481532G>T ENST00000376504.3 + 1 277 c.73G>T c.(73-75)Gac>Tac p.D25Y NM_178161.2 NP_835455.1 Q7RTS3 PTF1A_HUMAN pancreas specific transcription factor, 1a 25 endocrine pancreas development|exocrine pancreas development|regulation of transcription, DNA-dependent|tissue development|transcription, DNA-dependent cytoplasm|transcription factor complex endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1) 7 CGACGAGGACGACTTCTTCAC 0.652000 30 48 1.08312e-15 1.15974e-15 1 1 0 MVP 9961 broad.mit.edu 37 16 29855935 29855935 + Missense_Mutation SNP G G T TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr16:29855935G>T ENST00000357402.5 + 11 1894 c.1756G>T c.(1756-1758)Gtc>Ttc p.V586F MVP_ENST00000395353.1_Missense_Mutation_p.V586F NM_005115.4|NM_017458.3 NP_005106.2|NP_059447.2 Q14764 MVP_HUMAN major vault protein 586 mRNA transport|protein transport|response to drug|transmembrane transport cytoplasm|nuclear pore|ribonucleoprotein complex protein binding central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1) 27 CGTGGCCTCTGTCACTTTCGA 0.587000 57 90 5.57489e-27 6.31442e-27 1 1 0 CR1 1378 broad.mit.edu 37 1 207782886 207782886 + Missense_Mutation SNP A A G TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr1:207782886A>G ENST00000367049.4 + 37 6148 c.6148A>G c.(6148-6150)Att>Gtt p.I2050V CR1_ENST00000367053.1_Missense_Mutation_p.I1600V|CR1_ENST00000367051.1_Missense_Mutation_p.I1600V|CR1_ENST00000367052.1_Missense_Mutation_p.I1600V|CR1_ENST00000400960.2_Missense_Mutation_p.I1600V NM_000651.4 NP_000642.3 P17927 CR1_HUMAN complement component (3b/4b) receptor 1 (Knops blood group) 1600 complement activation, classical pathway|innate immune response integral to plasma membrane complement receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 82 TGAAAATGCAATTAGAGTACC 0.458000 18 15 0 0 1 0 0 CRYBG3 131544 broad.mit.edu 37 3 97655727 97655727 + Missense_Mutation SNP T T C TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr3:97655727T>C ENST00000182096.4 + 16 2700 c.2636T>C c.(2635-2637)aTt>aCt p.I879T CRYBG3_ENST00000389622.2_Missense_Mutation_p.I86T|CRYBG3_ENST00000485253.1_3'UTR NM_153605.3 NP_705833.3 beta-gamma crystallin domain containing 3 breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2) 32 TGGAAAACAATTGGTTCCCTC 0.413000 28 44 0 0 1 0 0 INTS7 25896 broad.mit.edu 37 1 212141254 212141254 + Missense_Mutation SNP C C T TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr1:212141254C>T ENST00000366994.3 - 15 2184 c.2080G>A c.(2080-2082)Gat>Aat p.D694N INTS7_ENST00000366993.3_Missense_Mutation_p.D694N|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366992.3_Missense_Mutation_p.D694N|INTS7_ENST00000440600.2_Missense_Mutation_p.D645N NM_001199811.1|NM_001199812.1|NM_015434.3 NP_001186740.1|NP_001186741.1|NP_056249.1 Q9NVH2 INT7_HUMAN integrator complex subunit 7 694 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) GAGTCAGCATCAAAAGATGCC 0.363000 31 54 0 0 1 0 0 CBX6 23466 broad.mit.edu 37 22 39267529 39267529 + Missense_Mutation SNP C C G TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr22:39267529C>G ENST00000407418.3 - 4 325 c.202G>C c.(202-204)Ggg>Cgg p.G68R CBX6_ENST00000216083.6_Missense_Mutation_p.G68R O95503 CBX6_HUMAN chromobox homolog 6 68 Chromo. chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent PcG protein complex large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 6 Melanoma(58;0.04) TTCTTGGGCCCATACAGCTCA 0.662000 43 72 0 0 1 0 0 ADH4 127 broad.mit.edu 37 4 100048405 100048405 + Missense_Mutation SNP C C T TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr4:100048405C>T ENST00000508393.1 - 8 1156 c.991G>A c.(991-993)Gag>Aag p.E331K ADH4_ENST00000423445.1_Missense_Mutation_p.E331K|ADH4_ENST00000265512.7_Missense_Mutation_p.E312K|ADH4_ENST00000505590.1_Missense_Mutation_p.E331K|RP11-696N14.1_ENST00000500358.2_RNA P08319 ADH4_HUMAN alcohol dehydrogenase 4 (class II), pi polypeptide 312 alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process cytosol|microtubule cytoskeleton alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|NAD binding|NADPH:quinone reductase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2) 18 OV - Ovarian serous cystadenocarcinoma(123;4.48e-08) NADH(DB00157) ATTAGCTCCTCTGGAAAAATA 0.403000 12 63 0 0 1 0 0 IGHV4-4 28401 broad.mit.edu 37 14 106478111 106478111 + RNA SNP C C T TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr14:106478111C>T ENST00000390596.2 - 0 410 CACTGTGTCTCTCGCACAGTA 0.617000 5 200 0 0 1 0 0 CFTR 1080 broad.mit.edu 37 7 117243724 117243724 + Missense_Mutation SNP C C A TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr7:117243724C>A ENST00000003084.6 + 17 2928 c.2796C>A c.(2794-2796)ttC>ttA p.F932L CFTR_ENST00000454343.1_Missense_Mutation_p.F871L NM_000492.3 NP_000483.3 P13569 CFTR_HUMAN cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) 932 ABC transmembrane type-1 2. respiratory gaseous exchange apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9) 69 Lung NSC(10;0.00148)|all_lung(10;0.00171) STAD - Stomach adenocarcinoma(10;0.000534) Bumetanide(DB00887)|Glibenclamide(DB01016) TGGGATTCTTCAGAGGTCTAC 0.408000 Cystic Fibrosis 25 35 1.64293e-13 1.75352e-13 1 1 0 EP400 57634 broad.mit.edu 37 12 132547117 132547117 + Silent SNP G G A rs147048182 by1000genomes TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr12:132547117G>A ENST00000333577.4 + 48 8422 c.8313G>A c.(8311-8313)caG>caA p.Q2771Q EP400_ENST00000389562.2_Silent_p.Q2734Q|EP400_ENST00000389561.2_Silent_p.Q2735Q|EP400_ENST00000332482.4_Silent_p.Q2698Q|EP400_ENST00000330386.6_Silent_p.Q2654Q Q96L91 EP400_HUMAN E1A binding protein p400 2771 Interaction with ZNF42 (By similarity).|Poly-Gln. 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) agcagcagcagcagcagcagc 0.597000 12 76 0 0 1 0 0 IGHV4OR15-8 28317 broad.mit.edu 37 15 22472921 22472921 + RNA SNP C C T TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr15:22472921C>T ENST00000557788.2 - 0 349 CACTGTGTCTCTCGCACAGTA 0.612000 78 466 0 0 1 0 0 PADI3 51702 broad.mit.edu 37 1 17596741 17596741 + Silent SNP G G A TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr1:17596741G>A ENST00000375460.3 + 7 706 c.666G>A c.(664-666)gtG>gtA p.V222V NM_016233.2 NP_057317.2 Q9ULW8 PADI3_HUMAN peptidyl arginine deiminase, type III 222 peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm calcium ion binding|protein-arginine deiminase activity breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) CTGAGGATGTGTGTGAGGCCT 0.602000 42 158 0 0 1 0 0 AKT2 208 broad.mit.edu 37 19 40739846 40739846 + Missense_Mutation SNP C C T TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr19:40739846C>T ENST00000392038.2 - 14 1677 c.1379G>A c.(1378-1380)gGc>gAc p.G460D AKT2_ENST00000424901.1_Missense_Mutation_p.G460D|AKT2_ENST00000311278.6_Missense_Mutation_p.G417D NM_001243027.1|NM_001243028.1|NM_001626.4 NP_001229956.1|NP_001229957.1|NP_001617.1 P31751 AKT2_HUMAN v-akt murine thymoma viral oncogene homolog 2 460 AGC-kinase C-terminal. insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process cytosol|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1) 27 Lung(22;0.000499) CTCCAGTAAGCCCAGGCTGTC 0.667000 A """ovarian, pancreatic """ 19 29 0 0 1 0 0 OVGP1 5016 broad.mit.edu 37 1 111957657 111957657 + Missense_Mutation SNP G G A TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr1:111957657G>A ENST00000369732.3 - 11 1521 c.1466C>T c.(1465-1467)cCt>cTt p.P489L NM_002557.3 NP_002548.3 Q12889 OVGP1_HUMAN oviductal glycoprotein 1, 120kDa 489 chitin catabolic process|female pregnancy|single fertilization transport vesicle cation binding|chitinase activity NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1) 39 all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302) Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14) CTTCTCTCCAGGGGTCATGGA 0.532000 37 43 0 0 1 0 0 CASP8AP2 9994 broad.mit.edu 37 6 90564541 90564541 + RNA SNP G G T TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr6:90564541G>T ENST00000551025.1 + 0 1567 Q9UKL3 C8AP2_HUMAN caspase 8 associated protein 2 cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent cytoplasm|nucleus caspase activator activity|death receptor binding|transcription corepressor activity NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2) 51 all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238) BRCA - Breast invasive adenocarcinoma(108;0.0953) TTTAGACAGCGCTTCCAAATC 0.348000 7 8 5.18039e-06 5.37405e-06 1 1 0 TROAP 10024 broad.mit.edu 37 12 49723220 49723220 + Missense_Mutation SNP G G C TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr12:49723220G>C ENST00000551245.1 + 11 1258 c.1147G>C c.(1147-1149)Gat>Cat p.D383H TROAP_ENST00000547923.1_Missense_Mutation_p.D91H|TROAP_ENST00000257909.3_Missense_Mutation_p.D383H Q12815 TROAP_HUMAN trophinin associated protein 383 cell adhesion cytoplasm breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4) 32 CTGCTCTGAAGATCCTGCCCT 0.612000 21 60 0 0 1 0 0 GPAT2 150763 broad.mit.edu 37 2 96690305 96690305 + Silent SNP C C T TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr2:96690305C>T ENST00000434632.1 - 16 1998 c.1539G>A c.(1537-1539)cgG>cgA p.R513R GPAT2_ENST00000359548.4_Silent_p.R513R|GPAT2_ENST00000453542.1_Silent_p.R442R|GPAT2_ENST00000377137.3_Silent_p.R513R Q6NUI2 GPAT2_HUMAN glycerol-3-phosphate acyltransferase 2, mitochondrial 513 glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process integral to membrane|mitochondrial outer membrane glycerol-3-phosphate O-acyltransferase activity NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3) 16 CCACGTGCGCCCGCAGCAGGC 0.642000 60 80 0 0 1 0 0 ARHGEF28 64283 broad.mit.edu 37 5 73136467 73136467 + Missense_Mutation SNP G G T TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr5:73136467G>T ENST00000545377.1 + 11 1485 c.1309G>T c.(1309-1311)Gca>Tca p.A437S ARHGEF28_ENST00000426542.2_Missense_Mutation_p.A437S|ARHGEF28_ENST00000513841.1_3'UTR|ARHGEF28_ENST00000296799.4_Missense_Mutation_p.A124S|ARHGEF28_ENST00000513042.2_Missense_Mutation_p.A437S|ARHGEF28_ENST00000296794.6_Missense_Mutation_p.A437S|ARHGEF28_ENST00000287898.5_Missense_Mutation_p.A437S|ARHGEF28_ENST00000437974.1_Missense_Mutation_p.A437S NM_001080479.2 NP_001073948.2 Rho guanine nucleotide exchange factor (GEF) 28 CGAAGGGACAGCACACACTGA 0.478000 16 23 2.32078e-09 2.44564e-09 1 1 0 ZBTB44 29068 broad.mit.edu 37 11 130106904 130106904 + Missense_Mutation SNP C C G TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr11:130106904C>G ENST00000397753.1 - 5 1645 c.1352G>C c.(1351-1353)gGt>gCt p.G451A ZBTB44_ENST00000357899.4_Missense_Mutation_p.G451A|ZBTB44_ENST00000530205.1_Splice_Site|ZBTB44_ENST00000525842.1_Splice_Site Q8NCP5 ZBT44_HUMAN zinc finger and BTB domain containing 44 451 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2) 15 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235) ACAGCGTTTACCTTCATGCTT 0.458000 36 30 0 0 1 0 0 COX11 1353 broad.mit.edu 37 17 53040708 53040708 + Missense_Mutation SNP T T C TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr17:53040708T>C ENST00000299335.3 - 3 745 c.607A>G c.(607-609)Att>Gtt p.I203V COX11_ENST00000571584.1_Missense_Mutation_p.I203V NM_004375.3 NP_004366.1 Q9Y6N1 COX11_HUMAN cytochrome c oxidase assembly homolog 11 (yeast) 203 respiratory chain complex IV assembly|respiratory gaseous exchange integral to membrane|mitochondrial inner membrane copper ion binding|cytochrome-c oxidase activity|electron carrier activity endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|prostate(1) 9 AATGGAACAATATTGTATGTA 0.343000 3 66 0 0 1 0 0 LDLRAD3 143458 broad.mit.edu 37 11 36250737 36250737 + Silent SNP G G A rs114075493 byFrequency TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr11:36250737G>A ENST00000315571.5 + 6 849 c.828G>A c.(826-828)ccG>ccA p.P276P LDLRAD3_ENST00000528989.1_Silent_p.P227P|LDLRAD3_ENST00000524419.1_Silent_p.P266P NM_174902.2 NP_777562.1 Q86YD5 LRAD3_HUMAN low density lipoprotein receptor class A domain containing 3 276 Poly-Pro. integral to membrane receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1) 28 all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177) all_hematologic(20;0.124) TTCCTCCACCGCCCTACTCTT 0.612000 144 154 0 0 1 0 0 GPD2 2820 broad.mit.edu 37 2 157406197 157406197 + Missense_Mutation SNP A A G TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr2:157406197A>G ENST00000310454.6 + 7 1111 c.739A>G c.(739-741)Atg>Gtg p.M247V GPD2_ENST00000409125.4_Missense_Mutation_p.M20V|GPD2_ENST00000540309.1_Missense_Mutation_p.M247V|GPD2_ENST00000438166.2_Missense_Mutation_p.M247V|GPD2_ENST00000409674.1_Missense_Mutation_p.M247V NM_001083112.2 NP_001076581.2 P43304 GPDM_HUMAN glycerol-3-phosphate dehydrogenase 2 (mitochondrial) 247 cellular lipid metabolic process glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1) 22 AGCCAATTACATGGAGGTAGT 0.562000 39 53 0 0 1 0 0 MALAT1 378938 broad.mit.edu 37 11 65266361 65266361 + RNA SNP A A G TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr11:65266361A>G ENST00000534336.1 + 0 1129 NR_002819.2 AAGTTCCATAAGCTGTTAAGA 0.363000 37 45 0 0 1 0 0 ANKRD26 22852 broad.mit.edu 37 10 27350131 27350131 + Silent SNP G G A TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr10:27350131G>A ENST00000376087.4 - 13 1569 c.1404C>T c.(1402-1404)aaC>aaT p.N468N ANKRD26_ENST00000436985.2_Intron NM_001256053.1|NM_014915.2 NP_001242982.1|NP_055730.2 Q9UPS8 ANR26_HUMAN ankyrin repeat domain 26 468 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 CCATCTTAAAGTTTCTTGATC 0.299000 30 68 0 0 1 0 0 ZNF813 126017 broad.mit.edu 37 19 53995109 53995109 + Missense_Mutation SNP T T A TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr19:53995109T>A ENST00000396403.4 + 4 1751 c.1623T>A c.(1621-1623)caT>caA p.H541Q ZNF813_ENST00000396421.4_Intron NM_001004301.3 NP_001004301.2 Q6ZN06 ZN813_HUMAN zinc finger protein 813 541 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1) 1 GBM - Glioblastoma multiforme(134;0.00619) TTGCACATCATCATAGACTTC 0.383000 6 52 0 0 1 0 0 C10orf68 79741 broad.mit.edu 37 10 33134528 33134528 + Missense_Mutation SNP C C A TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr10:33134528C>A ENST00000375030.2 + 16 1718 c.1100C>A c.(1099-1101)aCc>aAc p.T367N C10orf68_ENST00000375028.3_Missense_Mutation_p.T412N|C10orf68_ENST00000375025.4_Missense_Mutation_p.T472N Q9H943 CJ068_HUMAN chromosome 10 open reading frame 68 408 breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4) 29 AAGGAGTCAACCACGACACAA 0.313000 36 51 2.19962e-31 2.53451e-31 1 1 0 HRAS 3265 broad.mit.edu 37 11 533875 533875 + Missense_Mutation SNP G G T rs28933406 TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr11:533875G>T ENST00000417302.1 - 3 368 c.181C>A c.(181-183)Cag>Aag p.Q61K HRAS_ENST00000311189.7_Missense_Mutation_p.Q61K|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61K|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000451590.1_Missense_Mutation_p.Q61K|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61K NM_176795.3 NP_789765.1 P01112 RASH_HUMAN Harvey rat sarcoma viral oncogene homolog 61 Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines). activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission cytosol|Golgi membrane|plasma membrane GTP binding|GTPase activity|protein C-terminus binding p.Q61K(61)|p.Q61R(1)|p.Q61E(1) adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225) 901 all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713) all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703) Sulindac(DB00605) TACTCCTCCTGGCCGGCGGTA 0.597000 6 Mis """infrequent sarcomas, rare other types""" """rhadomyosarcoma, ganglioneuroblastoma, bladder""" Costello syndrome HNSCC(11;0.0054) 69 69 1.93348e-29 2.21253e-29 1 1 0 PNMA1 9240 broad.mit.edu 37 14 74179522 74179522 + Missense_Mutation SNP T T C TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr14:74179522T>C ENST00000316836.3 - 1 1606 c.821A>G c.(820-822)aAg>aGg p.K274R NM_006029.4 NP_006020.4 Q8ND90 PNMA1_HUMAN paraneoplastic Ma antigen 1 274 apoptosis|central nervous system development|inflammatory response to antigenic stimulus|spermatogenesis cytoplasm|focal adhesion|nucleolus protein binding breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|urinary_tract(2) 13 BRCA - Breast invasive adenocarcinoma(234;0.00331)|KIRC - Kidney renal clear cell carcinoma(182;0.0797) ctctaccaccttctgtagcag 0.527000 37 52 0 0 1 0 0 TDRD1 56165 broad.mit.edu 37 10 115970725 115970725 + Splice_Site SNP A A G TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr10:115970725A>G ENST00000251864.2 + 13 1812 c.1659A>G c.(1657-1659)tcA>tcG p.S553S TDRD1_ENST00000369281.2_Splice_Site_p.S553S|TDRD1_ENST00000369282.1_Splice_Site_p.S553S|TDRD1_ENST00000369280.1_Splice_Site_p.S553S|TDRD1_ENST00000422662.1_Splice_Site_p.S214S NM_198795.1 NP_942090.1 Q9BXT4 TDRD1_HUMAN tudor domain containing 1 553 Tudor 2. DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis pi-body nucleic acid binding|protein binding|zinc ion binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5) 48 Colorectal(252;0.172)|Breast(234;0.188) Epithelial(162;0.0343)|all cancers(201;0.0754) CTCAGTTCTCAGGTAAGGACA 0.353000 27 39 0 0 1 0 0 DNMT3A 1788 broad.mit.edu 37 2 25458672 25458672 + Missense_Mutation SNP G G T TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr2:25458672G>T ENST00000264709.3 - 22 2838 c.2501C>A c.(2500-2502)aCt>aAt p.T834N DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000321117.5_Missense_Mutation_p.T834N|DNMT3A_ENST00000380746.4_Missense_Mutation_p.T645N|DNMT3A_ENST00000402667.1_Missense_Mutation_p.T611N NM_175629.2 NP_783328.1 Q9Y6K1 DNM3A_HUMAN DNA (cytosine-5-)-methyltransferase 3 alpha 834 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) TGACCTCGTAGTAATGGTCCT 0.433000 """Mis, F, N, S""" AML 38 51 4.14481e-20 4.55519e-20 1 1 0 SLC28A1 9154 broad.mit.edu 37 15 85478266 85478266 + Silent SNP G G A TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr15:85478266G>A ENST00000394573.1 + 14 1426 c.1224G>A c.(1222-1224)caG>caA p.Q408Q SLC28A1_ENST00000537216.1_Silent_p.Q408Q|SLC28A1_ENST00000537624.1_Silent_p.Q408Q|SLC28A1_ENST00000286749.3_Silent_p.Q408Q|SLC28A1_ENST00000538177.1_Intron NM_004213.3 NP_004204.3 O00337 S28A1_HUMAN solute carrier family 28 (concentrative nucleoside transporter), member 1 408 nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1) 41 BRCA - Breast invasive adenocarcinoma(143;0.0587) GAGATGCTCAGAACCTCATAG 0.532000 33 62 0 0 1 0 0 PKP4 8502 broad.mit.edu 37 2 159499163 159499163 + Nonsense_Mutation SNP C C T TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr2:159499163C>T ENST00000389757.3 + 11 1986 c.1861C>T c.(1861-1863)Cga>Tga p.R621* PKP4_ENST00000389759.3_Nonsense_Mutation_p.R621* NM_001005476.1 NP_001005476.1 Q99569 PKP4_HUMAN plakophilin 4 621 cell adhesion desmosome protein binding p.R621*(1) breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1) 61 TGCCTTGTTGCGACTGTTGAG 0.413000 HNSCC(62;0.18) 4 90 0 0 1 0 0 MED12L 116931 broad.mit.edu 37 3 151101649 151101649 + Missense_Mutation SNP C C T TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr3:151101649C>T ENST00000474524.1 + 32 4696 c.4658C>T c.(4657-4659)tCa>tTa p.S1553L MED12L_ENST00000273432.4_Missense_Mutation_p.S1413L|P2RY12_ENST00000302632.3_Intron NM_053002.4 NP_443728.3 Q86YW9 MD12L_HUMAN mediator complex subunit 12-like 1553 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) ATCATTACTTCAGGAACTGTT 0.428000 16 17 0 0 1 0 0 MYSM1 114803 broad.mit.edu 37 1 59148161 59148161 + Missense_Mutation SNP T T G TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr1:59148161T>G ENST00000472487.1 - 8 594 c.555A>C c.(553-555)caA>caC p.Q185H MYSM1_ENST00000493821.1_5'UTR NM_001085487.2 NP_001078956.1 Q5VVJ2 MYSM1_HUMAN Myb-like, SWIRM and MPN domains 1 185 histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent chromatin remodeling complex DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_cancers(7;9.36e-06) CATTTTTAACTTGAAGATTAT 0.343000 24 32 0 0 1 0 0 AVPR1B 553 broad.mit.edu 37 1 206225152 206225152 + Missense_Mutation SNP C C T TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr1:206225152C>T ENST00000367126.4 + 1 1177 c.712C>T c.(712-714)Cgg>Tgg p.R238W NM_000707.3 NP_000698.1 P47901 V1BR_HUMAN arginine vasopressin receptor 1B 238 activation of phospholipase C activity|elevation of cytosolic calcium ion concentration endosome|integral to plasma membrane protein kinase C binding|vasopressin receptor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2) 20 BRCA - Breast invasive adenocarcinoma(75;0.0312) Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067) ACAGGCCTGGCGGGTGGGAGG 0.597000 8 95 0 0 1 0 0 TK1 7083 broad.mit.edu 37 17 76171688 76171688 + Missense_Mutation SNP G G A rs143988750 TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr17:76171688G>A ENST00000590430.1 - 4 264 c.221C>T c.(220-222)tCg>tTg p.S74L TK1_ENST00000405273.1_Silent_p.I105I|TK1_ENST00000301634.7_Silent_p.I105I|TK1_ENST00000588734.1_Silent_p.I105I|TK1_ENST00000590862.1_Silent_p.I105I P04183 KITH_HUMAN thymidine kinase 1, soluble 0 DNA replication|protein homotetramerization|pyrimidine base metabolic process|pyrimidine nucleoside salvage cytosol ATP binding|thymidine kinase activity|zinc ion binding endometrium(1)|large_intestine(1)|urinary_tract(2) 4 BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.0804)|Lung(188;0.23) AGAACTCCACGATGTCAGGGA 0.597000 5 141 0 0 1 0 0 GIT2 9815 broad.mit.edu 37 12 110399142 110399142 + Missense_Mutation SNP C C T TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr12:110399142C>T ENST00000360185.4 - 11 1092 c.928G>A c.(928-930)Gag>Aag p.E310K GIT2_ENST00000354574.4_Missense_Mutation_p.E312K|GIT2_ENST00000338373.5_Missense_Mutation_p.E310K|GIT2_ENST00000320063.9_Missense_Mutation_p.E310K|GIT2_ENST00000551209.1_Missense_Mutation_p.E309K|GIT2_ENST00000361006.5_Missense_Mutation_p.E310K|GIT2_ENST00000343646.5_Missense_Mutation_p.E310K|GIT2_ENST00000553118.1_Missense_Mutation_p.E310K|GIT2_ENST00000457474.2_Missense_Mutation_p.E312K|GIT2_ENST00000547815.1_Missense_Mutation_p.E310K|GIT2_ENST00000356259.4_Missense_Mutation_p.E310K|GIT2_ENST00000355312.3_Missense_Mutation_p.E310K|TCHP_ENST00000550780.1_Intron NM_014776.3 NP_055591.2 Q14161 GIT2_HUMAN G protein-coupled receptor kinase interacting ArfGAP 2 310 regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway nucleoplasm ARF GTPase activator activity|protein binding|zinc ion binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4) 27 ACCGTTGTCTCGGTTACCAGG 0.532000 25 32 0 0 1 0 0 ACTG1 71 broad.mit.edu 37 17 79478258 79478258 + Missense_Mutation SNP T T A TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr17:79478258T>A ENST00000575842.1 - 3 1184 c.758A>T c.(757-759)gAg>gTg p.E253V ACTG1_ENST00000331925.2_Missense_Mutation_p.E253V|ACTG1_ENST00000573283.1_Missense_Mutation_p.E253V|ACTG1_ENST00000575087.1_Missense_Mutation_p.E253V P63261 ACTG_HUMAN actin, gamma 1 253 adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement cytoskeleton|cytosol ATP binding|identical protein binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1) 29 all_neural(118;0.0878)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547) CCGGAACCGCTCATTGCCAAT 0.582000 11 200 0 0 1 0 0 MAGEL2 54551 broad.mit.edu 37 15 23890121 23890121 + Missense_Mutation SNP C C G TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr15:23890121C>G ENST00000532292.1 - 1 1054 c.960G>C c.(958-960)gaG>gaC p.E320D 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) GGCTTTGGACCTCCCAGTCAC 0.612000 9 102 0 0 1 0 0 ABCC8 6833 broad.mit.edu 37 11 17418789 17418789 + Silent SNP G G T TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr11:17418789G>T ENST00000302539.4 - 32 4067 c.3942C>A c.(3940-3942)cgC>cgA p.R1314R ABCC8_ENST00000389817.3_Silent_p.R1313R NM_000352.3 NP_000343.2 Q09428 ABCC8_HUMAN ATP-binding cassette, sub-family C (CFTR/MRP), member 8 1313 carbohydrate metabolic process|energy reserve metabolic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 67 READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1) Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912) GCCCATGGATGCGCTTCACAG 0.612000 44 80 2.00842e-17 2.17144e-17 1 1 0 CAPN1 823 broad.mit.edu 37 11 64950403 64950403 + Silent SNP C C A TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr11:64950403C>A ENST00000527323.1 + 1 471 c.231C>A c.(229-231)tcC>tcA p.S77S CAPN1_ENST00000533820.1_Silent_p.S77S|CAPN1_ENST00000279247.6_Silent_p.S77S|CAPN1_ENST00000527469.1_3'UTR|CAPN1_ENST00000533129.1_Silent_p.S77S|CAPN1_ENST00000524773.1_Silent_p.S77S P07384 CAN1_HUMAN calpain 1, (mu/I) large subunit 77 Calpain catalytic. positive regulation of cell proliferation|proteolysis cytoplasm|plasma membrane calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|protein binding breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1) 13 Lung NSC(402;0.094)|Melanoma(852;0.16) Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813) GTCCCAATTCCTCCAAGACCT 0.622000 12 19 0.000151284 0.00015406 1 1 0 FTH1 2495 broad.mit.edu 37 11 61732243 61732243 + Missense_Mutation SNP G G A TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr11:61732243G>A ENST00000273550.7 - 4 742 c.508C>T c.(508-510)Ctc>Ttc p.L170F FTH1_ENST00000532601.1_Missense_Mutation_p.L100F|FTH1_ENST00000526640.1_Missense_Mutation_p.L140F|FTH1_ENST00000529631.1_Intron|BEST1_ENST00000449131.2_3'UTR|FTH1_ENST00000529191.1_Intron NM_002032.2 NP_002023.2 P02794 FRIH_HUMAN ferritin, heavy polypeptide 1 170 cell proliferation|cellular membrane organization|immune response|intracellular sequestering of iron ion|iron ion transport|negative regulation of cell proliferation|post-Golgi vesicle-mediated transport cytosol|intracellular ferritin complex ferric iron binding|ferroxidase activity|protein binding NS(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 8 Iron Dextran(DB00893) TTGTCAAAGAGATATTCCGCC 0.522000 5 64 0 0 1 0 0 BCL9L 283149 broad.mit.edu 37 11 118772659 118772659 + Missense_Mutation SNP A A C TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr11:118772659A>C ENST00000334801.3 - 6 2757 c.1793T>G c.(1792-1794)tTt>tGt p.F598C BCL9L_ENST00000526143.1_5'UTR NM_182557.2 NP_872363.1 Q86UU0 BCL9L_HUMAN B-cell CLL/lymphoma 9-like 598 negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent transcription coactivator activity NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2) 56 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;7.66e-05) GGGCCCAGGAAAGGGAGGTCC 0.627000 9 14 0 0 1 0 0 USP19 10869 broad.mit.edu 37 3 49152995 49152995 + Missense_Mutation SNP T T G TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr3:49152995T>G ENST00000453664.1 - 12 2052 c.1734A>C c.(1732-1734)gaA>gaC p.E578D USP19_ENST00000398896.1_Missense_Mutation_p.E295D|USP19_ENST00000398888.2_Missense_Mutation_p.E487D|USP19_ENST00000398898.2_Missense_Mutation_p.E527D|USP19_ENST00000434032.2_Missense_Mutation_p.E588D|USP19_ENST00000417901.1_Missense_Mutation_p.E590D|USP19_ENST00000398892.3_Missense_Mutation_p.E527D NM_001199161.1|NM_001199162.1 NP_001186090.1|NP_001186091.1 O94966 UBP19_HUMAN ubiquitin specific peptidase 19 487 ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy endoplasmic reticulum membrane|integral to membrane ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245) ccttcttctcttcctcttcct 0.547000 20 21 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10440679 10440679 + Missense_Mutation SNP C C A TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr17:10440679C>A ENST00000245503.5 - 16 2152 c.1768G>T c.(1768-1770)Gac>Tac p.D590Y RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.D590Y|MYH2_ENST00000532183.2_Missense_Mutation_p.D590Y NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 590 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 ATGTTGTAGTCCACAACACCA 0.532000 78 22 3.20846e-33 3.70979e-33 1 1 0 ATP8B2 57198 broad.mit.edu 37 1 154310140 154310140 + Missense_Mutation SNP T T G TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr1:154310140T>G ENST00000368487.3 + 12 1341 c.1154T>G c.(1153-1155)gTa>gGa p.V385G ATP8B2_ENST00000341822.2_Intron|ATP8B2_ENST00000368489.3_Intron|ATP8B2_ENST00000426445.1_Intron NM_001005855.1 NP_001005855.1 P98198 AT8B2_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 2 428 ATP biosynthetic process plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity IL6R/ATP8B2(2) breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 51 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) TCCTGTACTGTAAACATTTGA 0.393000 20 37 0 0 1 0 0 CHD1 1105 broad.mit.edu 37 5 98194720 98194720 + Splice_Site SNP C C G TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr5:98194720C>G ENST00000284049.3 - 33 4674 c.e33-1 NM_001270.2 NP_001261.2 O14646 CHD1_HUMAN chromodomain helicase DNA binding protein 1 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 49 all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117) COAD - Colon adenocarcinoma(37;0.0717) Epirubicin(DB00445) CACTGTTTTGCTAAAATAAAT 0.299000 20 26 0 0 1 0 0 RAB3GAP2 25782 broad.mit.edu 37 1 220363468 220363468 + Missense_Mutation SNP G G A TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr1:220363468G>A ENST00000358951.2 - 16 1768 c.1652C>T c.(1651-1653)gCc>gTc p.A551V NM_012414.3 NP_036546.2 Q9H2M9 RBGPR_HUMAN RAB3 GTPase activating protein subunit 2 (non-catalytic) 551 intracellular protein transport cytoplasm|soluble fraction GTPase activator activity|protein heterodimerization activity breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1) 39 GBM - Glioblastoma multiforme(131;0.0443) CATATCCTTGGCTCGTTCACT 0.308000 15 24 0 0 1 0 0 GPR180 160897 broad.mit.edu 37 13 95254270 95254270 + Missense_Mutation SNP G G A TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr13:95254270G>A ENST00000376958.4 + 1 114 c.89G>A c.(88-90)aGc>aAc p.S30N NM_180989.5 NP_851320.1 Q86V85 GP180_HUMAN G protein-coupled receptor 180 30 integral to membrane breast(1)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1) 10 all_neural(89;0.0684)|Medulloblastoma(90;0.163) GGCAGCTTCAGCAGCACCGCG 0.721000 7 5 0 0 1 0 0 PDCD1LG2 80380 broad.mit.edu 37 9 5563182 5563182 + Missense_Mutation SNP A A C TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr9:5563182A>C ENST00000397747.3 + 6 1035 c.787A>C c.(787-789)Acc>Ccc p.T263P PDCD1LG2_ENST00000397745.2_Missense_Mutation_p.T173P NM_025239.3 NP_079515.2 Q9BQ51 PD1L2_HUMAN programmed cell death 1 ligand 2 263 immune response|T cell costimulation endomembrane system|extracellular region|integral to membrane|plasma membrane receptor activity large_intestine(2)|lung(4)|prostate(2) 8 all_hematologic(13;0.158) Acute lymphoblastic leukemia(23;0.154) GBM - Glioblastoma multiforme(50;0.000767)|Lung(218;0.112) AAGACCTGTCACCACAACAAA 0.333000 6 19 0 0 1 0 0 MAP3K6 9064 broad.mit.edu 37 1 27683576 27683576 + Silent SNP G G A TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr1:27683576G>A ENST00000493901.1 - 25 3527 c.3288C>T c.(3286-3288)atC>atT p.I1096I MAP3K6_ENST00000357582.2_Silent_p.I1096I|MAP3K6_ENST00000374040.3_Silent_p.I1088I NM_004672.3 NP_004663.3 O95382 M3K6_HUMAN mitogen-activated protein kinase kinase kinase 6 1096 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) AGTGTGGACGGATCTGGCGCT 0.642000 24 33 0 0 1 0 0 UBN1 29855 broad.mit.edu 37 16 4924782 4924782 + Missense_Mutation SNP C C T TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr16:4924782C>T ENST00000396658.4 + 14 3074 c.2371C>T c.(2371-2373)Cac>Tac p.H791Y UBN1_ENST00000262376.6_Missense_Mutation_p.H791Y|UBN1_ENST00000545171.1_Missense_Mutation_p.H791Y|UBN1_ENST00000590769.1_Missense_Mutation_p.H791Y NM_016936.3 NP_058632.2 Q9NPG3 UBN1_HUMAN ubinuclein 1 791 chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter PML body|tight junction DNA binding|sequence-specific DNA binding transcription factor activity p.H791Y(1) NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 38 ACGGACGTCTCACGGGCCCCA 0.572000 70 96 0 0 1 0 0 ATP7B 540 broad.mit.edu 37 13 52524492 52524492 + Missense_Mutation SNP C C T TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr13:52524492C>T ENST00000242839.4 - 10 2647 c.2491G>A c.(2491-2493)Gtc>Atc p.V831I ATP7B_ENST00000344297.5_Missense_Mutation_p.V669I|ATP7B_ENST00000418097.2_Missense_Mutation_p.V831I|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000448424.2_Missense_Mutation_p.V753I|ATP7B_ENST00000417240.2_Missense_Mutation_p.V103I|ATP7B_ENST00000400366.3_Missense_Mutation_p.V720I NM_000053.3 NP_000044.2 P35670 ATP7B_HUMAN ATPase, Cu++ transporting, beta polypeptide 831 ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion Golgi membrane|integral to plasma membrane|late endosome|mitochondrion ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2) 55 Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19) GBM - Glioblastoma multiforme(99;5.25e-08) ACCACCTTGACGATATCGCCC 0.557000 Wilson disease 13 65 0 0 1 0 0 ITPKC 80271 broad.mit.edu 37 19 41224075 41224075 + Silent SNP A A T TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr19:41224075A>T ENST00000263370.2 + 1 1068 c.1035A>T c.(1033-1035)ggA>ggT p.G345G NM_025194.2 NP_079470.1 Q96DU7 IP3KC_HUMAN inositol-trisphosphate 3-kinase C 345 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) AGCCAGTGGGACCCCCCTCCC 0.667000 69 85 0 0 1 0 0 ZNF319 57567 broad.mit.edu 37 16 58031777 58031777 + Silent SNP G G A TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr16:58031777G>A ENST00000299237.2 - 2 1015 c.393C>T c.(391-393)ccC>ccT p.P131P NM_020807.1 NP_065858.1 Q9P2F9 ZN319_HUMAN zinc finger protein 319 131 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1) 8 CACAGACGAAGGGCTTCTGCT 0.582000 6 86 0 0 1 0 0 HOXB6 3216 broad.mit.edu 37 17 46673862 46673862 + Silent SNP G G A TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr17:46673862G>A ENST00000484302.2 - 3 1210 c.588C>T c.(586-588)aaC>aaT p.N196N HOXB-AS3_ENST00000480872.1_RNA|HOXB-AS3_ENST00000487849.3_RNA|HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB6_ENST00000225648.3_Silent_p.N196N|HOXB-AS3_ENST00000476204.1_RNA|HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000460041.1_RNA|HOXB-AS3_ENST00000481995.1_RNA|HOXB-AS3_ENST00000467155.2_RNA|HOXB-AS3_ENST00000474324.1_RNA|HOXB-AS3_ENST00000477144.1_RNA|HOXB-AS3_ENST00000466037.2_RNA|HOXB3_ENST00000552000.2_Intron P17509 HXB6_HUMAN homeobox B6 196 anterior/posterior axis specification, embryo nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|kidney(1)|large_intestine(1)|lung(4) 7 TCATGCGTCGGTTCTGGAACC 0.572000 13 336 0 0 1 0 0 GNAI2 2771 broad.mit.edu 37 3 50289836 50289836 + Missense_Mutation SNP C C G TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr3:50289836C>G ENST00000313601.6 + 3 553 c.169C>G c.(169-171)Cac>Gac p.H57D GNAI2_ENST00000266027.5_Missense_Mutation_p.H41D|GNAI2_ENST00000422163.1_Missense_Mutation_p.H41D|GNAI2_ENST00000440628.1_Missense_Mutation_p.H5D|GNAI2_ENST00000491100.1_3'UTR|GNAI2_ENST00000536647.1_5'UTR|GNAI2_ENST00000451956.1_Missense_Mutation_p.H20D NM_002070.2 NP_002061.1 P04899 GNAI2_HUMAN guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2 57 adenosine receptor signaling pathway|cell cycle|cell division|gamma-aminobutyric acid signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|platelet activation|response to nutrient|synaptic transmission centrosome|heterotrimeric G-protein complex|midbody G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1) 16 BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651) CAGGATCATCCACGAGGATGG 0.592000 34 52 0 0 1 0 0 SASH1 23328 broad.mit.edu 37 6 148664260 148664260 + Silent SNP G G T rs141615365 by1000genomes TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr6:148664260G>T ENST00000367467.3 + 1 532 c.57G>T c.(55-57)ccG>ccT p.P19P SASH1_ENST00000367469.1_Intron NM_015278.3 NP_056093.3 O94885 SASH1_HUMAN SAM and SH3 domain containing 1 19 Pro-rich. protein binding breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 52 Ovarian(120;0.0169) OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701) agcccgagccggagcccgagc 0.766000 3 15 0.004672 0.00470023 1 1 0 JPH4 84502 broad.mit.edu 37 14 24045150 24045150 + Missense_Mutation SNP G G C TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr14:24045150G>C ENST00000397118.3 - 4 1797 c.895C>G c.(895-897)Cgc>Ggc p.R299G JPH4_ENST00000356300.4_Missense_Mutation_p.R299G NM_032452.2 NP_115828.2 Q96JJ6 JPH4_HUMAN junctophilin 4 299 calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity integral to membrane|junctional sarcoplasmic reticulum membrane endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(95;0.000251) GBM - Glioblastoma multiforme(265;0.00654) CCGTTGGAGCGCTGGCTGACG 0.761000 12 9 0 0 1 0 0 PSMA6 5687 broad.mit.edu 37 14 35777221 35777221 + Missense_Mutation SNP A A G TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr14:35777221A>G ENST00000261479.4 + 2 218 c.98A>G c.(97-99)aAc>aGc p.N33S PSMA6_ENST00000553809.1_Missense_Mutation_p.N33S|PSMA6_ENST00000556506.1_Missense_Mutation_p.N33S|PSMA6_ENST00000555764.1_5'UTR|PSMA6_ENST00000540871.1_Missense_Mutation_p.N14S|KIAA0391_ENST00000557565.1_3'UTR NM_002791.1 NP_002782.1 P60900 PSA6_HUMAN proteasome (prosome, macropain) subunit, alpha type, 6 33 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction mitochondrion|nuclear matrix|polysome|proteasome core complex, alpha-subunit complex|sarcomere NF-kappaB binding|purine ribonucleoside triphosphate binding|RNA binding|threonine-type endopeptidase activity kidney(2)|large_intestine(1)|lung(5)|prostate(1)|urinary_tract(1) 10 Breast(36;0.0519)|Hepatocellular(127;0.158) Lung(238;3.81e-05)|LUAD - Lung adenocarcinoma(48;5.59e-05)|Epithelial(34;0.00342)|all cancers(34;0.00973) GBM - Glioblastoma multiforme(112;0.0234) AAGGCTATTAACCAGGGTGGC 0.338000 25 36 0 0 1 0 0 G6PD 2539 broad.mit.edu 37 X 153760417 153760417 + Silent SNP G G C TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chrX:153760417G>C ENST00000393562.2 - 12 1916 c.1533C>G c.(1531-1533)ccC>ccG p.P511P G6PD_ENST00000369620.2_Silent_p.P527P|G6PD_ENST00000393564.2_Silent_p.P481P NM_000402.3 NP_000393.4 P11413 G6PD_HUMAN glucose-6-phosphate dehydrogenase 481 cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle glucose binding|glucose-6-phosphate dehydrogenase activity|NADP binding|protein homodimerization activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4) 18 all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CATAAATATAGGGGATGGGCT 0.622000 4 20 0 0 1 0 0 PRMT6 55170 broad.mit.edu 37 1 107600179 107600179 + Missense_Mutation SNP G G A TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr1:107600179G>A ENST00000361318.5 + 1 913 c.665G>A c.(664-666)gGc>gAc p.G222D PRMT6_ENST00000370078.1_Missense_Mutation_p.G281D NM_018137.2 NP_060607.2 Q96LA8 ANM6_HUMAN protein arginine methyltransferase 6 281 base-excision repair|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus histone binding|histone methyltransferase activity (H2A-R3 specific)|histone methyltransferase activity (H3-R2 specific)|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity biliary_tract(1)|breast(2)|kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1) 14 all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185) Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242) AGCTGCTATGGCTCGGCGCCC 0.677000 26 41 0 0 1 0 0 PLCL1 5334 broad.mit.edu 37 2 199011631 199011631 + Missense_Mutation SNP G G A TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr2:199011631G>A ENST00000428675.1 + 6 3631 c.3233G>A c.(3232-3234)cGc>cAc p.R1078H PLCL1_ENST00000437704.2_Missense_Mutation_p.R980H NM_006226.3 NP_006217.3 Q15111 PLCL1_HUMAN phospholipase C-like 1 1078 intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Quinacrine(DB01103) AAGAGCAAGCGCAGCCTGGAA 0.512000 6 40 0 0 1 0 0 FPR2 2358 broad.mit.edu 37 19 52272071 52272071 + Missense_Mutation SNP C C T TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr19:52272071C>T ENST00000598776.1 + 2 932 c.160C>T c.(160-162)Cgg>Tgg p.R54W FPR2_ENST00000340023.6_Missense_Mutation_p.R54W|FPR2_ENST00000598953.1_Missense_Mutation_p.R54W NM_001462.3 NP_001453.1 P25090 FPR2_HUMAN formyl peptide receptor 2 54 cell adhesion|cellular component movement|chemotaxis|inflammatory response integral to membrane|plasma membrane N-formyl peptide receptor activity endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1) 33 GGCTGGATTCCGGATGACACG 0.557000 20 109 0 0 1 0 0 ALKBH5 54890 broad.mit.edu 37 17 18088106 18088106 + Silent SNP C C T TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr17:18088106C>T ENST00000399138.4 + 1 554 c.549C>T c.(547-549)ccC>ccT p.P183P ALKBH5_ENST00000541285.1_Intron NM_017758.3 NP_060228.3 Q6P6C2 ALKB5_HUMAN alkB, alkylation repair homolog 5 (E. coli) 183 integral to membrane metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|skin(1) 10 all_neural(463;0.228) GCGTCATCCCCGAGGGCTTCG 0.662000 27 6 0 0 1 0 0 TENM4 26011 broad.mit.edu 37 11 78369111 78369111 + Missense_Mutation SNP G G A TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr11:78369111G>A ENST00000278550.7 - 34 8764 c.8302C>T c.(8302-8304)Cgg>Tgg p.R2768W NM_001098816.2 NP_001092286.2 teneurin transmembrane protein 4 TGTCACCTCCGGCCCATCTCG 0.478000 138 209 0 0 1 0 0 RAB5B 5869 broad.mit.edu 37 12 56385220 56385220 + Missense_Mutation SNP A A T TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr12:56385220A>T ENST00000360299.5 + 5 736 c.515A>T c.(514-516)gAt>gTt p.D172V RAB5B_ENST00000448789.2_Missense_Mutation_p.D131V|RAB5B_ENST00000553116.1_Missense_Mutation_p.D172V NM_002868.3 NP_002859.1 P61020 RAB5B_HUMAN RAB5B, member RAS oncogene family 172 protein transport|small GTPase mediated signal transduction early endosome membrane|melanosome|membrane fraction|plasma membrane GTP binding|GTP-dependent protein binding|GTPase activity endometrium(1)|large_intestine(1)|liver(2)|lung(4)|upper_aerodigestive_tract(1) 9 UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.235) AACGTGAATGATCTCTTCCTG 0.453000 31 49 0 0 1 0 0 MFSD8 256471 broad.mit.edu 37 4 128870988 128870988 + Missense_Mutation SNP T T A TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr4:128870988T>A ENST00000296468.3 - 4 296 c.169A>T c.(169-171)Atg>Ttg p.M57L MFSD8_ENST00000515130.1_5'UTR|MFSD8_ENST00000513559.1_Missense_Mutation_p.M12L|MFSD8_ENST00000541133.1_Missense_Mutation_p.M12L NM_152778.2 NP_689991.1 Q8NHS3 MFSD8_HUMAN major facilitator superfamily domain containing 8 57 cell death|transmembrane transport integral to membrane|lysosomal membrane cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1) 23 ATGGACATCATCACTACAGAA 0.318000 42 75 0 0 1 0 0 PCOLCE 5118 broad.mit.edu 37 7 100201601 100201601 + Missense_Mutation SNP T T C TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr7:100201601T>C ENST00000223061.5 + 3 504 c.224T>C c.(223-225)gTg>gCg p.V75A PCOLCE-AS1_ENST00000446022.1_RNA|PCOLCE_ENST00000496269.1_3'UTR|PCOLCE-AS1_ENST00000442166.2_RNA NM_002593.3 NP_002584.2 Q15113 PCOC1_HUMAN procollagen C-endopeptidase enhancer 75 CUB 1. multicellular organismal development extracellular space collagen binding|heparin binding|peptidase activator activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3) 23 Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439) GGCCAGACTGTGTCCCTCTCA 0.677000 37 56 0 0 1 0 0 MGRN1 23295 broad.mit.edu 37 16 4714751 4714751 + Silent SNP C C T TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr16:4714751C>T ENST00000399577.5 + 6 696 c.603C>T c.(601-603)atC>atT p.I201I MGRN1_ENST00000415496.1_Silent_p.I201I|MGRN1_ENST00000586183.1_Silent_p.I201I|MGRN1_ENST00000262370.7_Silent_p.I201I|MGRN1_ENST00000588994.1_Silent_p.I201I NM_001142290.2 NP_001135762.1 O60291 MGRN1_HUMAN mahogunin ring finger 1, E3 ubiquitin protein ligase 201 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 CAGTAGTCATCCAGGCTGTGG 0.602000 53 69 0 0 1 0 0 RERE 473 broad.mit.edu 37 1 8601299 8601299 + Silent SNP G G A TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr1:8601299G>A ENST00000337907.3 - 8 1438 c.804C>T c.(802-804)taC>taT p.Y268Y RERE_ENST00000400907.2_Silent_p.Y268Y|RERE_ENST00000400908.2_Silent_p.Y268Y NM_012102.3 NP_036234.3 Q9P2R6 RERE_HUMAN arginine-glutamic acid dipeptide (RE) repeats 268 BAH. multicellular organismal development|NLS-bearing substrate import into nucleus mitochondrion poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 49 Ovarian(185;0.0661) all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195) ATCCTAATATGTAGAAAAATG 0.373000 34 35 0 0 1 0 0 TMEM30A 55754 broad.mit.edu 37 6 75970565 75970565 + Silent SNP T T A TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr6:75970565T>A ENST00000230461.6 - 4 845 c.516A>T c.(514-516)ggA>ggT p.G172G TMEM30A_ENST00000370050.5_Silent_p.G53G|TMEM30A_ENST00000475111.2_Silent_p.G136G NM_018247.3 NP_060717.1 Q9NV96 CC50A_HUMAN transmembrane protein 30A 172 integral to membrane NS(1)|haematopoietic_and_lymphoid_tissue(8)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 TGGCAATAGCTCCACAAGGAG 0.308000 22 34 0 0 1 0 0 ZFP36L1 677 broad.mit.edu 37 14 69257050 69257050 + Missense_Mutation SNP C C T TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr14:69257050C>T ENST00000439696.2 - 2 518 c.217G>A c.(217-219)Ggt>Agt p.G73S ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Missense_Mutation_p.G73S NM_001244701.1|NM_004926.3 NP_001231630.1|NP_004917.2 Q07352 TISB_HUMAN ZFP36 ring finger protein-like 1 73 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) GCTGGCTCACCCTTGAGGCTG 0.692000 OREG0022753 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 21 28 0 0 1 0 0 GJB5 2709 broad.mit.edu 37 1 35223718 35223718 + Missense_Mutation SNP C C G TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr1:35223718C>G ENST00000338513.1 + 2 960 c.787C>G c.(787-789)Cgc>Ggc p.R263G NM_005268.3 NP_005259.1 O95377 CXB5_HUMAN gap junction protein, beta 5, 31.1kDa 263 cell communication|epidermis development connexon complex|integral to membrane endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1) 10 Myeloproliferative disorder(586;0.0393) CTTACCAGACCGCCCCCGAGA 0.572000 23 33 0 0 1 0 0 DMD 1756 broad.mit.edu 37 X 32466660 32466660 + Missense_Mutation SNP T T G TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chrX:32466660T>G ENST00000357033.4 - 27 3905 c.3699A>C c.(3697-3699)caA>caC p.Q1233H DMD_ENST00000378677.2_Missense_Mutation_p.Q1229H NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2 NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1 P11532 DMD_HUMAN dystrophin 1233 muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2) 77 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) TTAAGGCCTCTTGTGCTACAG 0.433000 20 27 0 0 1 0 0 CDS2 8760 broad.mit.edu 37 20 5170462 5170462 + Missense_Mutation SNP G G A TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr20:5170462G>A ENST00000460006.1 + 12 1490 c.1183G>A c.(1183-1185)Gta>Ata p.V395I CDS2_ENST00000379062.4_Missense_Mutation_p.V275I|CDS2_ENST00000379070.3_3'UTR|CDS2_ENST00000535100.1_Missense_Mutation_p.V165I NM_003818.3 NP_003809.1 O95674 CDS2_HUMAN CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2 395 phospholipid biosynthetic process integral to membrane|mitochondrial inner membrane phosphatidate cytidylyltransferase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|stomach(1) 14 CTTTGTCAATGTATACATCGC 0.448000 17 112 0 0 1 0 0 MUC17 140453 broad.mit.edu 37 7 100687052 100687052 + Missense_Mutation SNP A A G TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr7:100687052A>G ENST00000306151.4 + 3 12419 c.12355A>G c.(12355-12357)Att>Gtt p.I4119V NM_001040105.1 NP_001035194.1 Q685J3 MUC17_HUMAN mucin 17, cell surface associated 4119 extracellular region|integral to membrane|plasma membrane extracellular matrix constituent, lubricant activity NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4) 343 Lung NSC(181;0.136)|all_lung(186;0.182) GAATACTACAATTAAGAGCAA 0.468000 6 97 0 0 1 0 0 ADD1 118 broad.mit.edu 37 4 2877725 2877725 + Missense_Mutation SNP T T C TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr4:2877725T>C ENST00000355842.3 + 3 946 c.83T>C c.(82-84)gTa>gCa p.V28A ADD1_ENST00000398125.1_Missense_Mutation_p.V28A|ADD1_ENST00000446856.1_Missense_Mutation_p.V28A|ADD1_ENST00000513328.2_Missense_Mutation_p.V28A|ADD1_ENST00000398123.2_Missense_Mutation_p.V28A|ADD1_ENST00000503455.2_Missense_Mutation_p.V28A|ADD1_ENST00000264758.7_Missense_Mutation_p.V28A|ADD1_ENST00000398129.1_Missense_Mutation_p.V28A P35611 ADDA_HUMAN adducin 1 (alpha) 28 actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding cytosol|F-actin capping protein complex|nucleus|plasma membrane actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2) 22 UCEC - Uterine corpus endometrioid carcinoma (64;0.168) TTCGACCGAGTAGATGAGAAC 0.517000 42 73 0 0 1 0 0 PKLR 5313 broad.mit.edu 37 1 155269945 155269945 + Missense_Mutation SNP A A G TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr1:155269945A>G ENST00000392414.3 - 2 247 c.134T>C c.(133-135)cTg>cCg p.L45P PKLR_ENST00000342741.4_Missense_Mutation_p.L76P NM_181871.3 NP_870986.1 P30613 KPYR_HUMAN pyruvate kinase, liver and RBC 76 endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process cytosol ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity p.L76K(1) NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127) Pyruvic acid(DB00119) GTCAATGTCCAGTAGGCAGAG 0.602000 33 54 0 0 1 0 0 CLCNKB 1188 broad.mit.edu 37 1 16373136 16373136 + Silent SNP G G A TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr1:16373136G>A ENST00000375679.4 + 4 447 c.336G>A c.(334-336)caG>caA p.Q112Q 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) GCTTCTCTCAGAGCATCACAC 0.602000 31 28 0 0 1 0 0 HSBP1 3281 broad.mit.edu 37 16 83842915 83842915 + Missense_Mutation SNP G G C TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr16:83842915G>C ENST00000433866.2 + 3 352 c.118G>C c.(118-120)Gat>Cat p.D40H HSBP1_ENST00000570259.1_Missense_Mutation_p.D40H NM_001537.3 NP_001528.1 O75506 HSBP1_HUMAN heat shock factor binding protein 1 40 negative regulation of transcription from RNA polymerase II promoter nucleus transcription corepressor activity all_cancers(2;0.00573)|all_epithelial(2;0.0309) BRCA - Breast invasive adenocarcinoma(80;0.0404) AGCACTTGATGATATGAGTAG 0.468000 6 9 0 0 1 0 0 RPTOR 57521 broad.mit.edu 37 17 78865582 78865582 + Silent SNP C C A TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr17:78865582C>A ENST00000306801.3 + 18 2408 c.2046C>A c.(2044-2046)gcC>gcA p.A682A RPTOR_ENST00000544334.2_Silent_p.A524A|RPTOR_ENST00000575542.1_3'UTR NM_020761.2 NP_065812.1 Q8N122 RPTOR_HUMAN regulatory associated protein of MTOR, complex 1 682 cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade cytosol|lysosome|TORC1 complex protein complex binding breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3) 44 GCACCGTGGCCCTGCAGTTCA 0.552000 8 194 0.00448238 0.00452313 1 1 0 ATP2B4 493 broad.mit.edu 37 1 203667353 203667353 + Missense_Mutation SNP A A G TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr1:203667353A>G ENST00000357681.5 + 3 1385 c.262A>G c.(262-264)Aaa>Gaa p.K88E ATP2B4_ENST00000341360.2_Missense_Mutation_p.K88E|ATP2B4_ENST00000367218.3_Missense_Mutation_p.K88E|ATP2B4_ENST00000367219.3_Missense_Mutation_p.K88E|ATP2B4_ENST00000391954.2_Missense_Mutation_p.K88E NM_001684.4 NP_001675.3 P23634 AT2B4_HUMAN ATPase, Ca++ transporting, plasma membrane 4 88 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) GATCCCCCCCAAAAAGCCCAA 0.488000 31 37 0 0 1 0 0 ERCC2 2068 broad.mit.edu 37 19 45867687 45867687 + Missense_Mutation SNP T T C TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr19:45867687T>C ENST00000391945.4 - 8 790 c.713A>G c.(712-714)aAc>aGc p.N238S ERCC2_ENST00000221481.6_Intron|ERCC2_ENST00000485403.2_Missense_Mutation_p.N214S|ERCC2_ENST00000391940.4_Missense_Mutation_p.N214S|ERCC2_ENST00000391944.3_Missense_Mutation_p.N160S NM_000400.3 NP_000391.1 P18074 ERCC2_HUMAN excision repair cross-complementing rodent repair deficiency, complementation group 2 238 Helicase ATP-binding. cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction cytoplasm|holo TFIIH complex|MMXD complex 5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding p.N238S(1) large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1) 9 Ovarian(192;0.0728)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.0226) CTCACCAATGTTGTGGGCCTC 0.637000 """Mis, N, F, S""" """skin basal cell, skin squamous cell, melanoma""" Nucleotide excision repair (NER) Xeroderma Pigmentosum 14 26 0 0 1 0 0 GRB2 2885 broad.mit.edu 37 17 73316548 73316548 + Missense_Mutation SNP G G A TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr17:73316548G>A ENST00000578961.1 - 4 560 c.386C>T c.(385-387)tCa>tTa p.S129L GRB2_ENST00000392563.1_Silent_p.V144V|GRB2_ENST00000392562.1_Silent_p.V185V|GRB2_ENST00000462266.1_5'UTR|GRB2_ENST00000316615.5_Silent_p.V144V|GRB2_ENST00000392564.1_Silent_p.V185V|GRB2_ENST00000316804.5_Silent_p.V185V P62993 GRB2_HUMAN growth factor receptor-bound protein 2 0 SH2. axon guidance|blood coagulation|cell junction assembly|cell-cell signaling|cellular response to ionizing radiation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|receptor internalization|signal transduction in response to DNA damage|T cell costimulation cytosol|Golgi apparatus epidermal growth factor receptor binding|insulin receptor substrate binding|SH3/SH2 adaptor activity p.V185V(1) breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1) 17 all_cancers(13;5.44e-09)|all_epithelial(9;1.1e-09)|Breast(9;1.85e-09)|all_lung(278;0.222) all cancers(21;1.09e-07)|Epithelial(20;1.23e-06)|Lung(188;0.185) Pegademase bovine(DB00061) AGTTATCCATGACATGGATAA 0.562000 17 270 0 0 1 0 0 ZNF750 79755 broad.mit.edu 37 17 80790240 80790240 + Missense_Mutation SNP G G A TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr17:80790240G>A ENST00000269394.3 - 2 924 c.91C>T c.(91-93)Ccc>Tcc p.P31S TBCD_ENST00000397466.2_Intron|ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000355528.4_Intron|TBCD_ENST00000539345.2_Intron NM_024702.2 NP_078978.2 Q32MQ0 ZN750_HUMAN zinc finger protein 750 31 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) CAAGTAAAGGGACATTGGAAA 0.408000 106 16 0 0 1 0 0 SLC25A4 291 broad.mit.edu 37 4 186066147 186066147 + Missense_Mutation SNP C C T TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr4:186066147C>T ENST00000281456.6 + 2 473 c.341C>T c.(340-342)gCt>gTt p.A114V NM_001151.3 NP_001142.2 P12235 ADT1_HUMAN solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4 A -> P (in PEOA2). energy reserve metabolic process|interspecies interaction between organisms|mitochondrial genome maintenance|negative regulation of necrotic cell death|regulation of insulin secretion|viral reproduction integral to plasma membrane|mitochondrial inner membrane adenine transmembrane transporter activity|protein binding endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1) 10 all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243) OV - Ovarian serous cystadenocarcinoma(60;4.48e-44)|Epithelial(43;2.1e-41)|all cancers(43;1.37e-36)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155) Adenosine triphosphate(DB00171)|Clodronate(DB00720) CGCTACTTTGCTGGTAACCTG 0.577000 50 55 0 0 1 0 0 CTNNB1 1499 broad.mit.edu 37 3 41266124 41266124 + Missense_Mutation SNP A A G rs121913412 TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr3:41266124A>G ENST00000349496.5 + 3 401 c.121A>G c.(121-123)Acc>Gcc p.T41A CTNNB1_ENST00000453024.1_Missense_Mutation_p.T34A|CTNNB1_ENST00000396183.3_Missense_Mutation_p.T41A|CTNNB1_ENST00000405570.1_Missense_Mutation_p.T41A|CTNNB1_ENST00000396185.3_Missense_Mutation_p.T41A NM_001904.3 NP_001895.1 P35222 CTNB1_HUMAN catenin (cadherin-associated protein), beta 1, 88kDa 41 T -> A (in hepatoblastoma and hepatocellular carcinoma; also in a desmoid tumor; strongly reduces phosphorylation and degradation; abolishes phosphorylation on Ser-33 and Ser-37 and enhances transactivation of target genes).|T -> I (in PTR, hepatocellular carcinoma and ovarian cancer). adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding p.T41A(550)|p.A5_A80del(53)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.T41P(6)|p.Q28_H134del(5)|p.?(4)|p.W25_I140del(3)|p.T41S(3)|p.T3_A126del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.S37_G48>C(1)|p.A13_R151del(1)|p.H36_E53>L(1)|p.M14_S45del(1)|p.T40_L46del(1)|p.A20_N141del(1)|p.T41_N51del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.I35_T41del(1)|p.I35_K170del(1)|p.Y30_A97del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.A5_T40del(1)|p.A5_E54del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.A39_T42del(1)|p.Y30_A80del(1) CTNNB1/PLAG1(60) NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8) 3893 KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294) Lithium(DB01356) TGGTGCCACTACCACAGCTCC 0.507000 T41A(CCK81_LARGE_INTESTINE) 15 """H, Mis, T""" PLAG1 """colorectal, cvarian, hepatoblastoma, others, pleomorphic salivary adenoma""" Pilomatrixoma, Familial Clustering of 22 25 0 0 1 0 0 COL4A5 1287 broad.mit.edu 37 X 107938500 107938500 + Missense_Mutation SNP A A G TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chrX:107938500A>G ENST00000328300.6 + 52 5069 c.4825A>G c.(4825-4827)Aca>Gca p.T1609A COL4A5_ENST00000361603.2_Missense_Mutation_p.T1603A NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 1603 Collagen IV NC1. Missing (in APSX). axon guidance collagen type IV extracellular matrix structural constituent|protein binding p.T1603S(1) NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 TTTATAGCATACAAGTGCAGG 0.483000 Alport syndrome with Diffuse Leiomyomatosis 56 5 0 0 1 0 0 IDO1 3620 broad.mit.edu 37 8 39771492 39771492 + Missense_Mutation SNP T T G TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr8:39771492T>G ENST00000518237.1 + 1 690 c.51T>G c.(49-51)atT>atG p.I17M IDO1_ENST00000522495.1_Missense_Mutation_p.I17M|RP11-44K6.3_ENST00000517623.1_RNA NM_002164.5 NP_002155.1 P14902 I23O1_HUMAN indoleamine 2,3-dioxygenase 1 17 female pregnancy|tryptophan catabolic process cytosol electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2) 12 L-Tryptophan(DB00150) AGTACCATATTGATGAAGAAG 0.448000 8 7 0 0 1 0 0 ZNF665 79788 broad.mit.edu 37 19 53669550 53669550 + Missense_Mutation SNP T T G TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr19:53669550T>G ENST00000396424.3 - 4 282 c.193A>C c.(193-195)Aat>Cat p.N65H ZNF665_ENST00000600412.1_5'UTR NM_024733.3 NP_079009.3 Q9H7R5 ZN665_HUMAN zinc finger protein 665 0 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 35 GBM - Glioblastoma multiforme(134;0.0196) TCTCCCATATTGTTCTTCCCC 0.388000 128 170 0 0 1 0 0 TCF19 6941 broad.mit.edu 37 6 31129271 31129271 + Missense_Mutation SNP T T A TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr6:31129271T>A ENST00000376257.3 + 3 1040 c.286T>A c.(286-288)Ttg>Atg p.L96M TCF19_ENST00000496421.1_3'UTR|TCF19_ENST00000376255.4_Missense_Mutation_p.L96M NM_007109.2 NP_009040.2 Q9Y242 TCF19_HUMAN transcription factor 19 96 cell proliferation|regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1) 9 CAGGCTGGAATTGAGTGATGG 0.517000 53 66 0 0 1 0 0 RPS2 6187 broad.mit.edu 37 16 2014478 2014478 + Missense_Mutation SNP G G A TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr16:2014478G>A ENST00000529806.1 - 1 335 c.149C>T c.(148-150)gCt>gTt p.A50V RPS2_ENST00000343262.4_Missense_Mutation_p.A50V|RPS2_ENST00000530225.1_Missense_Mutation_p.A50V|RPS2_ENST00000526522.1_Missense_Mutation_p.A50V P15880 RS2_HUMAN ribosomal protein S2 50 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit|nucleoplasm fibroblast growth factor 1 binding|fibroblast growth factor 3 binding|RNA binding|structural constituent of ribosome endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2) 7 GCCTCCGCGAGCTCCGCGGCC 0.746000 3 18 0 0 1 0 0 SQLE 6713 broad.mit.edu 37 8 126017812 126017812 + Missense_Mutation SNP T T C TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr8:126017812T>C ENST00000265896.5 + 3 1488 c.590T>C c.(589-591)aTt>aCt p.I197T SQLE_ENST00000523430.1_Missense_Mutation_p.I102T NM_003129.3 NP_003120.2 Q14534 ERG1_HUMAN squalene epoxidase 197 cholesterol biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome flavin adenine dinucleotide binding|squalene monooxygenase activity NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1) 14 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) Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857) GGTTACATGATTCATGATCAG 0.413000 109 79 0 0 1 0 0 PIGT 51604 broad.mit.edu 37 20 44049174 44049174 + Missense_Mutation SNP G G A TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr20:44049174G>A ENST00000279036.6 + 8 954 c.874G>A c.(874-876)Gag>Aag p.E292K PIGT_ENST00000279035.9_Missense_Mutation_p.E190K|PIGT_ENST00000372689.5_Missense_Mutation_p.E292K|PIGT_ENST00000543458.2_Missense_Mutation_p.E236K|PIGT_ENST00000535404.1_Missense_Mutation_p.E137K|PIGT_ENST00000341555.5_Missense_Mutation_p.E98K|PIGT_ENST00000545755.1_Missense_Mutation_p.E30K NM_015937.5 NP_057021.2 Q969N2 PIGT_HUMAN phosphatidylinositol glycan anchor biosynthesis, class T 292 attachment of GPI anchor to protein|C-terminal protein lipidation GPI-anchor transamidase complex protein binding breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1) 22 Myeloproliferative disorder(115;0.0122) CCAGGACAACGAGACATTAGA 0.562000 21 26 0 0 1 0 0 ARHGAP9 64333 broad.mit.edu 37 12 57868471 57868471 + Missense_Mutation SNP C C T TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr12:57868471C>T ENST00000393797.2 - 17 2129 c.1937G>A c.(1936-1938)gGc>gAc p.G646D ARHGAP9_ENST00000424809.2_Missense_Mutation_p.G556D|ARHGAP9_ENST00000550288.1_Missense_Mutation_p.G635D|ARHGAP9_ENST00000356411.2_Missense_Mutation_p.G575D|ARHGAP9_ENST00000430041.2_Missense_Mutation_p.G372D|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.G556D Q9BRR9 RHG09_HUMAN Rho GTPase activating protein 9 575 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1) 30 GBM - Glioblastoma multiforme(3;3.37e-34) CCGATAAATGCCATCCACATC 0.512000 57 106 0 0 1 0 0 ZNF92 168374 broad.mit.edu 37 7 64863508 64863508 + Missense_Mutation SNP A A T TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr7:64863508A>T ENST00000328747.7 + 4 680 c.481A>T c.(481-483)Aat>Tat p.N161Y ZNF92_ENST00000357512.2_Missense_Mutation_p.N129Y|ZNF92_ENST00000450302.2_Missense_Mutation_p.N92Y|ZNF92_ENST00000431504.1_Missense_Mutation_p.N85Y NM_152626.2 NP_689839.1 Q03936 ZNF92_HUMAN zinc finger protein 92 161 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1) 13 Lung NSC(55;0.159) TCCAAATGTAAATAGAAATAA 0.303000 4 70 0 0 1 0 0 C16orf86 388284 broad.mit.edu 37 16 67701899 67701899 + Missense_Mutation SNP A A G TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr16:67701899A>G ENST00000403458.4 + 3 606 c.451A>G c.(451-453)Aaa>Gaa p.K151E C16orf86_ENST00000602974.1_3'UTR NM_001012984.2 NP_001013002.2 Q6ZW13 CP086_HUMAN chromosome 16 open reading frame 86 151 endometrium(2)|lung(4) 6 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228) ACCATCTGCCAAACAGCACAA 0.602000 OREG0023886 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 32 52 0 0 1 0 0 MAP6 4135 broad.mit.edu 37 11 75319175 75319175 + Silent SNP T T C TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr11:75319175T>C ENST00000434603.2 - 2 1162 c.1098A>G c.(1096-1098)gaA>gaG p.E366E MAP6_ENST00000304771.3_Silent_p.E366E|MAP6_ENST00000526740.1_Silent_p.E37E NM_207577.1 NP_997460.1 Q96JE9 MAP6_HUMAN microtubule-associated protein 6 366 Calmodulin-binding (By similarity). Golgi apparatus|microtubule|perinuclear region of cytoplasm calmodulin binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1) 19 Ovarian(111;0.11) CCTTGAAGGGTTCGCTGTAGA 0.537000 10 68 0 0 1 0 0 WDR37 22884 broad.mit.edu 37 10 1118168 1118168 + Missense_Mutation SNP A A G TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr10:1118168A>G ENST00000358220.1 + 2 217 c.73A>G c.(73-75)Ata>Gta p.I25V WDR37_ENST00000381329.1_Missense_Mutation_p.I25V|WDR37_ENST00000263150.4_Missense_Mutation_p.I25V Q9Y2I8 WDR37_HUMAN WD repeat domain 37 25 breast(2)|endometrium(2)|kidney(1)|lung(9)|prostate(2)|skin(1) 17 all_epithelial(10;0.0449)|Colorectal(49;0.142) Epithelial(11;0.134) TAGCCTTTCTATACGAAGAAC 0.473000 60 75 0 0 1 0 0 FLT4 2324 broad.mit.edu 37 5 180057238 180057238 + Missense_Mutation SNP A A T TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr5:180057238A>T ENST00000261937.6 - 4 578 c.500T>A c.(499-501)gTc>gAc p.V167D FLT4_ENST00000393347.3_Missense_Mutation_p.V167D|FLT4_ENST00000502649.1_Missense_Mutation_p.V167D|FLT4_ENST00000424276.2_5'UTR NM_182925.4 NP_891555.2 P35916 VGFR3_HUMAN fms-related tyrosine kinase 4 167 Ig-like C2-type 2. positive regulation of cell proliferation integral to plasma membrane ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00245)|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) all cancers(165;0.134) Sorafenib(DB00398)|Sunitinib(DB01268) GCGCAGCGTGACATTGAGGCC 0.642000 25 38 0 0 1 0 0 PABPC4 8761 broad.mit.edu 37 1 40041436 40041436 + Missense_Mutation SNP G G C TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr1:40041436G>C ENST00000372857.3 - 1 980 c.188C>G c.(187-189)gCc>gGc p.A63G PABPC4_ENST00000372858.3_Missense_Mutation_p.A63G|PABPC4_ENST00000372862.3_Missense_Mutation_p.A63G|PABPC4_ENST00000372856.3_Missense_Mutation_p.A63G NM_003819.3 NP_003810.1 Q13310 PABP4_HUMAN poly(A) binding protein, cytoplasmic 4 (inducible form) 63 RRM 1. blood coagulation|RNA catabolic process|RNA processing|translation cytoplasm|ribonucleoprotein complex nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3) 21 Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457) CTCACCGTCGGCCGGCTGCTG 0.682000 19 18 0 0 1 0 0 C16orf93 90835 broad.mit.edu 37 16 30768824 30768824 + Silent SNP C C T TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr16:30768824C>T ENST00000543610.1 - 9 1930 c.969G>A c.(967-969)ccG>ccA p.P323P C16orf93_ENST00000541260.1_Silent_p.P388P|PHKG2_ENST00000424889.3_Intron|PHKG2_ENST00000563588.1_3'UTR NM_001014979.2 NP_001014979.2 A1A4V9 CP093_HUMAN chromosome 16 open reading frame 93 323 p.P286P(1) breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6) 11 TGCCTTTACCCGGAGGTAGCT 0.597000 137 218 0 0 1 0 0 ATAD5 79915 broad.mit.edu 37 17 29182252 29182252 + Missense_Mutation SNP C C T TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr17:29182252C>T ENST00000321990.4 + 7 2920 c.2542C>T c.(2542-2544)Cgg>Tgg p.R848W CTD-2349P21.11_ENST00000580873.1_RNA NM_024857.3 NP_079133.3 Q96QE3 ATAD5_HUMAN ATPase family, AAA domain containing 5 848 response to DNA damage stimulus nucleus ATP binding|nucleoside-triphosphatase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1) 51 all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393) TTTGTTGAAACGGCAAATTGC 0.403000 20 27 0 0 1 0 0 CCDC3 83643 broad.mit.edu 37 10 12940643 12940643 + Missense_Mutation SNP C C T TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr10:12940643C>T ENST00000378839.1 - 7 1163 c.211G>A c.(211-213)Gag>Aag p.E71K CCDC3_ENST00000378825.3_Missense_Mutation_p.E196K NM_001282658.1 NP_001269587.1 Q9BQI4 CCDC3_HUMAN coiled-coil domain containing 3 196 endoplasmic reticulum|extracellular region central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(2) 11 Ovarian(717;0.0822) BRCA - Breast invasive adenocarcinoma(52;0.163) TGGTCCTCCTCCTCAAACAAG 0.612000 46 41 0 0 1 0 0 KRBA1 84626 broad.mit.edu 37 7 149430732 149430732 + Missense_Mutation SNP G G T TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr7:149430732G>T ENST00000255992.10 + 18 3085 c.2686G>T c.(2686-2688)Gct>Tct p.A896S KRBA1_ENST00000319551.8_Missense_Mutation_p.A836S|KRBA1_ENST00000485033.2_Missense_Mutation_p.A836S|KRBA1_ENST00000479560.1_3'UTR NM_032534.2 NP_115923.2 A5PL33 KRBA1_HUMAN KRAB-A domain containing 1 897 breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1) 27 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) GAGCTGCAGGGCTGGTGACCT 0.662000 3 12 0.115264 0.115611 1 1 0 LYST 1130 broad.mit.edu 37 1 235971786 235971786 + Missense_Mutation SNP C C A TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr1:235971786C>A ENST00000389794.3 - 5 2506 c.2332G>T c.(2332-2334)Gta>Tta p.V778L LYST_ENST00000389793.2_Missense_Mutation_p.V778L|LYST_ENST00000536965.1_Missense_Mutation_p.V778L Q99698 LYST_HUMAN lysosomal trafficking regulator 778 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 162 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) AGAGTTTTTACATAAATCTGA 0.458000 16 37 3.45872e-05 3.57687e-05 1 1 0 TMBIM6 7009 broad.mit.edu 37 12 50152506 50152506 + Silent SNP C C A TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr12:50152506C>A ENST00000423828.1 + 7 976 c.648C>A c.(646-648)tcC>tcA p.S216S TMBIM6_ENST00000395006.4_Silent_p.S158S|TMBIM6_ENST00000267115.5_Silent_p.S158S|TMBIM6_ENST00000547798.1_Silent_p.S121S|TMBIM6_ENST00000549385.1_Silent_p.S158S|TMBIM6_ENST00000552699.1_Silent_p.S216S NM_001098576.1 NP_001092046.1 P55061 BI1_HUMAN transmembrane BAX inhibitor motif containing 6 158 apoptosis|negative regulation of apoptosis endoplasmic reticulum|insoluble fraction|integral to plasma membrane|nucleus lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 6 TTTTGTCTTCCCTGGGGAATG 0.433000 24 36 2.41591e-17 2.60355e-17 1 1 0 ZMPSTE24 10269 broad.mit.edu 37 1 40735778 40735778 + Silent SNP G G A TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr1:40735778G>A ENST00000372759.3 + 5 771 c.606G>A c.(604-606)ctG>ctA p.L202L NM_005857.4 NP_005848.2 O75844 FACE1_HUMAN zinc metallopeptidase STE24 202 endoplasmic reticulum membrane|Golgi membrane|integral to membrane metal ion binding|metalloexopeptidase activity endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1) 16 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;6.3e-18) ATGCCTGGCTGTTCACATTAG 0.333000 56 108 0 0 1 0 0 SEC31A 22872 broad.mit.edu 37 4 83795831 83795831 + Missense_Mutation SNP C C T TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr4:83795831C>T ENST00000432794.1 - 6 735 c.572G>A c.(571-573)gGc>gAc p.G191D SEC31A_ENST00000513858.1_Missense_Mutation_p.G191D|SEC31A_ENST00000505984.1_Missense_Mutation_p.G191D|SEC31A_ENST00000348405.4_Missense_Mutation_p.G191D|SEC31A_ENST00000326950.5_Missense_Mutation_p.G191D|SEC31A_ENST00000395310.2_Missense_Mutation_p.G191D|SEC31A_ENST00000443462.2_Missense_Mutation_p.G186D|SEC31A_ENST00000508479.1_Missense_Mutation_p.G191D|SEC31A_ENST00000355196.2_Missense_Mutation_p.G191D|SEC31A_ENST00000505472.1_Missense_Mutation_p.G191D|SEC31A_ENST00000509142.1_Missense_Mutation_p.G191D|SEC31A_ENST00000311785.7_Missense_Mutation_p.G191D|SEC31A_ENST00000500777.2_Missense_Mutation_p.G191D|SEC31A_ENST00000436790.2_5'UTR|SEC31A_ENST00000448323.1_Missense_Mutation_p.G191D|SEC31A_ENST00000508502.1_Missense_Mutation_p.G191D O94979 SC31A_HUMAN SEC31 homolog A (S. cerevisiae) 191 Interaction with SEC13. COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm calcium-dependent protein binding SEC31A/ALK(3)|SEC31A/JAK2(4) breast(1) 1 Hepatocellular(203;0.114) AGTGGCCCGGCCACTGGGACT 0.413000 37 70 0 0 1 0 0 TBR1 10716 broad.mit.edu 37 2 162273470 162273470 + Silent SNP C C T TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr2:162273470C>T ENST00000389554.3 + 1 866 c.549C>T c.(547-549)tcC>tcT p.S183S NM_006593.2 NP_006584.1 Q16650 TBR1_HUMAN T-box, brain, 1 183 nucleus DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3) 30 ACGGCCACTCCTACCAAGGAG 0.627000 56 110 0 0 1 0 0 AMPD2 271 broad.mit.edu 37 1 110169352 110169352 + Missense_Mutation SNP C C A TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr1:110169352C>A ENST00000256578.3 + 6 1058 c.698C>A c.(697-699)cCg>cAg p.P233Q AMPD2_ENST00000526301.1_3'UTR|AMPD2_ENST00000528454.1_Missense_Mutation_p.P115Q|AMPD2_ENST00000358729.4_Missense_Mutation_p.P158Q|AMPD2_ENST00000528667.1_Missense_Mutation_p.P233Q|AMPD2_ENST00000393688.3_Missense_Mutation_p.P114Q|AMPD2_ENST00000342115.4_Missense_Mutation_p.P152Q NM_004037.7 NP_004028.3 Q01433 AMPD2_HUMAN adenosine monophosphate deaminase 2 233 purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage cytosol AMP deaminase activity|metal ion binding breast(1)|large_intestine(3)|ovary(2)|skin(1) 7 all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244) Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228) CTCCAGGTGCCGTTCACAGAC 0.577000 56 73 1.27862e-28 1.45815e-28 1 1 0 TAS2R3 50831 broad.mit.edu 37 7 141464148 141464148 + Missense_Mutation SNP A A C TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr7:141464148A>C ENST00000247879.2 + 1 252 c.190A>C c.(190-192)Act>Cct p.T64P SSBP1_ENST00000465582.1_Intron NM_016943.2 NP_058639.1 Q9NYW6 TA2R3_HUMAN taste receptor, type 2, member 3 64 sensory perception of taste taste receptor activity breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5) 14 Melanoma(164;0.0171) TATTATCTTGACTGATAGTTT 0.388000 87 118 0 0 1 0 0 COL4A5 1287 broad.mit.edu 37 X 107850106 107850106 + Silent SNP G G A TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chrX:107850106G>A ENST00000328300.6 + 29 2623 c.2379G>A c.(2377-2379)ggG>ggA p.G793G COL4A5_ENST00000361603.2_Silent_p.G793G NM_033380.2 NP_203699.1 P29400 CO4A5_HUMAN collagen, type IV, alpha 5 793 Triple-helical region. axon guidance collagen type IV extracellular matrix structural constituent|protein binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 99 GCTTAGATGGGCTCCCTGGAC 0.502000 Alport syndrome with Diffuse Leiomyomatosis 67 7 0 0 1 0 0 KCNH4 23415 broad.mit.edu 37 17 40321564 40321564 + Silent SNP C C A rs148380980 byFrequency TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr17:40321564C>A ENST00000264661.3 - 9 1853 c.1521G>T c.(1519-1521)ccG>ccT p.P507P KCNH4_ENST00000607371.1_Silent_p.P507P NM_012285.2 NP_036417.1 Q9UQ05 KCNH4_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 4 507 regulation of transcription, DNA-dependent voltage-gated potassium channel complex two-component sensor activity|voltage-gated potassium channel activity autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1) 32 all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.126) GCTGCTTGAGCGGCCGCGGCA 0.622000 78 51 5.88917e-42 6.85697e-42 1 1 0 PRAMEF2 65122 broad.mit.edu 37 1 12921375 12921375 + Missense_Mutation SNP T T C TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr1:12921375T>C ENST00000240189.2 + 4 1253 c.1166T>C c.(1165-1167)aTg>aCg p.M389T NM_023014.1 NP_075390.1 O60811 PRAM2_HUMAN PRAME family member 2 389 breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4) 42 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) AGCAATTGCATGTCTATTGAC 0.557000 49 246 0 0 1 0 0 CDH10 1008 broad.mit.edu 37 5 24537646 24537646 + Silent SNP G G C TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr5:24537646G>C ENST00000264463.4 - 3 876 c.369C>G c.(367-369)gcC>gcG p.A123A NM_006727.3 NP_006718.2 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 (T2-cadherin) 123 Cadherin 1. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4) 185 STAD - Stomach adenocarcinoma(35;0.0556) GAGTATAAAAGGCCTTTTCCT 0.383000 HNSCC(23;0.051) 43 61 0 0 1 0 0 CGN 57530 broad.mit.edu 37 1 151497239 151497239 + Silent SNP G G A TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr1:151497239G>A ENST00000271636.7 + 8 1624 c.1491G>A c.(1489-1491)ttG>ttA p.L497L NM_020770.2 NP_065821.1 Q9P2M7 CING_HUMAN cingulin 491 Glu-rich. 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) AGCGGGAGTTGACAGCCCTGA 0.602000 8 22 0 0 1 0 0 RPRD2 23248 broad.mit.edu 37 1 150444715 150444715 + Silent SNP G G A TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr1:150444715G>A ENST00000401000.4 + 10 3278 c.3213G>A c.(3211-3213)agG>agA p.R1071R RPRD2_ENST00000369068.4_Silent_p.R1097R|RPRD2_ENST00000492220.1_3'UTR Q5VT52 RPRD2_HUMAN regulation of nuclear pre-mRNA domain containing 2 1097 protein binding central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 37 CCAATAGGAGGATGTCAGGGG 0.537000 20 31 0 0 1 0 0 TRIML2 205860 broad.mit.edu 37 4 189020256 189020256 + Missense_Mutation SNP C C T rs141454212 by1000genomes TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr4:189020256C>T ENST00000512729.1 - 4 778 c.404G>A c.(403-405)cGc>cAc p.R135H TRIML2_ENST00000536972.1_Missense_Mutation_p.R185H|TRIML2_ENST00000326754.3_Missense_Mutation_p.R135H NM_173553.1 NP_775824.1 Q8N7C3 TRIMM_HUMAN tripartite motif family-like 2 135 ligase activity central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1) 39 all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513) OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163) TAGGAGGCTGCGGACCTGTTC 0.478000 53 42 0 0 1 0 0 LILRA2 11027 broad.mit.edu 37 19 55087354 55087354 + Missense_Mutation SNP C C A TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr19:55087354C>A ENST00000251377.3 + 7 1166 c.1033C>A c.(1033-1035)Cag>Aag p.Q345K LILRA2_ENST00000251376.3_Missense_Mutation_p.Q345K|LILRA2_ENST00000391738.3_Missense_Mutation_p.Q345K|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.Q333K|LILRB1_ENST00000396321.2_Intron leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 50 GBM - Glioblastoma multiforme(193;0.0963) CCTGCTGTGTCAGTCACGGGG 0.587000 44 50 6.5261e-18 7.10194e-18 1 1 0 TUBBP5 643224 broad.mit.edu 37 9 141070116 141070116 + RNA SNP G G A rs142836124 by1000genomes TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr9:141070116G>A ENST00000503395.1 + 0 1196 p.R77H(1) GACTCTGTGCGCTCGGGGCCC 0.687000 5 135 0 0 1 0 0 FLG 2312 broad.mit.edu 37 1 152283714 152283714 + Silent SNP T T G TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr1:152283714T>G ENST00000368799.1 - 3 3683 c.3648A>C c.(3646-3648)gcA>gcC p.A1216A FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 1216 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) TTTGTCTGCTTGCACTTCTGG 0.547000 Ichthyosis 5 578 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140507793 140507793 + Silent SNP C C G TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr7:140507793C>G ENST00000288602.6 - 5 738 c.678G>C c.(676-678)gtG>gtC p.V226V NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 226 RBD. activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) CATTCTCCAACACTTCCACAT 0.323000 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 23 25 0 0 1 0 0 KDM6A 7403 broad.mit.edu 37 X 44922864 44922864 + Silent SNP C C T TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chrX:44922864C>T ENST00000377967.4 + 16 1766 c.1725C>T c.(1723-1725)ggC>ggT p.G575G KDM6A_ENST00000543216.1_Silent_p.G496G|KDM6A_ENST00000382899.4_Silent_p.G582G|KDM6A_ENST00000536777.1_Silent_p.G530G NM_021140.2 NP_066963.2 O15550 KDM6A_HUMAN lysine (K)-specific demethylase 6A 575 histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.0?(6)|p.0(2) NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29) 170 TTTCTGCAGGCCATGTTCCCT 0.517000 """D, N, F, S""" """renal, oesophageal SCC, MM""" 21 3 0 0 1 0 0 CANX 821 broad.mit.edu 37 5 179155596 179155596 + Missense_Mutation SNP A A G TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr5:179155596A>G ENST00000247461.4 + 15 1930 c.1730A>G c.(1729-1731)gAt>gGt p.D577G CANX_ENST00000415618.2_Missense_Mutation_p.D612G|CANX_ENST00000504734.1_Missense_Mutation_p.D577G|CANX_ENST00000452673.2_Missense_Mutation_p.D577G|CANX_ENST00000512607.2_Missense_Mutation_p.D469G NM_001746.3 NP_001737.1 P27824 CALX_HUMAN calnexin 577 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein secretion endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome calcium ion binding|sugar binding|unfolded protein binding breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3) 22 all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218) all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031) CAATAGGAGGATGAAATTTTG 0.348000 11 27 0 0 1 0 0 DPP4 1803 broad.mit.edu 37 2 162870960 162870960 + Missense_Mutation SNP A A T TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr2:162870960A>T ENST00000360534.3 - 19 2143 c.1583T>A c.(1582-1584)aTg>aAg p.M528K DPP4_ENST00000491591.1_5'UTR NM_001935.3 NP_001926.2 P27487 DPP4_HUMAN dipeptidyl-peptidase 4 528 cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 48 Sitagliptin(DB01261) AGGCAAGATCATCTGATACCA 0.323000 23 17 0 0 1 0 0 TSPAN3 10099 broad.mit.edu 37 15 77345242 77345242 + Silent SNP T T G TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr15:77345242T>G ENST00000267970.4 - 5 735 c.462A>C c.(460-462)tcA>tcC p.S154S TSPAN3_ENST00000346495.2_Silent_p.S129S|TSPAN3_ENST00000561277.1_5'UTR|TSPAN3_ENST00000559494.1_Silent_p.S65S|TSPAN3_ENST00000424443.3_Silent_p.S90S|TSPAN3_ENST00000558745.1_5'UTR NM_001168412.1|NM_005724.5|NM_198902.2 NP_001161884.1|NP_005715.1|NP_944492.1 O60637 TSN3_HUMAN tetraspanin 3 154 integral to membrane kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1) 10 all cancers(203;1.14e-19) TTTCCCAGTCTGAGTAGTTGT 0.423000 12 17 0 0 1 0 0 PCCA 5095 broad.mit.edu 37 13 101077951 101077951 + Missense_Mutation SNP C C G TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr13:101077951C>G ENST00000376285.1 + 20 1849 c.1811C>G c.(1810-1812)tCt>tGt p.S604C PCCA_ENST00000376286.4_Missense_Mutation_p.S578C|PCCA_ENST00000376279.3_Missense_Mutation_p.S604C NM_000282.3 NP_000273.2 P05165 PCCA_HUMAN propionyl CoA carboxylase, alpha polypeptide 604 fatty acid beta-oxidation mitochondrial matrix ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2) 26 all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184) Biotin(DB00121) CCCTTATTGTCTGTCAGCGTT 0.493000 18 18 0 0 1 0 0 SEPT14 346288 broad.mit.edu 37 7 55874888 55874888 + Missense_Mutation SNP T T A rs59033822 TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr7:55874888T>A ENST00000388975.3 - 8 997 c.881A>T c.(880-882)gAa>gTa p.E294V NM_207366.2 NP_997249.2 Q6ZU15 SEP14_HUMAN septin 14 294 cell cycle|cell division septin complex GTP binding|protein binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2) 23 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) TTTTAGATTTTCCATATTGGT 0.353000 34 44 0 0 1 0 0 C9orf64 84267 broad.mit.edu 37 9 86571190 86571190 + Missense_Mutation SNP A A G TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr9:86571190A>G ENST00000376344.3 - 1 442 c.226T>C c.(226-228)Ttc>Ctc p.F76L C9orf64_ENST00000314700.1_Intron|C9orf64_ENST00000376340.2_5'UTR NM_032307.3 NP_115683.3 Q5T6V5 CI064_HUMAN chromosome 9 open reading frame 64 76 central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1) 15 CAAAAGGAGAAGTTGAGCGTG 0.607000 62 66 0 0 1 0 0 GARNL3 84253 broad.mit.edu 37 9 130098496 130098496 + Missense_Mutation SNP G G T TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr9:130098496G>T ENST00000373387.4 + 11 1315 c.963G>T c.(961-963)atG>atT p.M321I GARNL3_ENST00000435213.2_Missense_Mutation_p.M299I|GARNL3_ENST00000314904.5_Missense_Mutation_p.M321I NM_032293.4 NP_115669.3 Q5VVW2 GARL3_HUMAN GTPase activating Rap/RanGAP domain-like 3 321 Rap-GAP. regulation of small GTPase mediated signal transduction intracellular GTPase activator activity|small GTPase regulator activity NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2) 41 AGCCTTCCATGATCCGCTCCC 0.488000 13 22 0.00010058 0.000103056 1 1 0 WNT10B 7480 broad.mit.edu 37 12 49364022 49364022 + Silent SNP G G A TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr12:49364022G>A ENST00000301061.4 - 3 535 c.187C>T c.(187-189)Ctg>Ttg p.L63L WNT10B_ENST00000403957.1_Silent_p.L63L|WNT10B_ENST00000407467.1_Silent_p.L63L NM_003394.3 NP_003385.2 O00744 WN10B_HUMAN wingless-type MMTV integration site family, member 10B 63 axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway extracellular space|plasma membrane|proteinaceous extracellular matrix G-protein-coupled receptor binding|signal transducer activity central_nervous_system(1)|large_intestine(5)|lung(12)|prostate(1)|skin(4) 23 GGGTTGCGCAGGCACAGGCCT 0.677000 3 16 0 0 1 0 0 BNC1 646 broad.mit.edu 37 15 83932686 83932686 + Silent SNP C C T TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr15:83932686C>T ENST00000345382.2 - 4 1402 c.1317G>A c.(1315-1317)aaG>aaA p.K439K RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Silent_p.K432K NM_001717.3 NP_001708.3 Q01954 BNC1_HUMAN basonuclin 1 439 epidermis development|positive regulation of cell proliferation cytoplasm|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1) 56 AACCTGGGCACTTGTAGTTCT 0.562000 42 55 0 0 1 0 0 SMARCAD1 56916 broad.mit.edu 37 4 95174132 95174132 + Missense_Mutation SNP C C T TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr4:95174132C>T ENST00000354268.4 + 9 1328 c.1255C>T c.(1255-1257)Cgg>Tgg p.R419W SMARCAD1_ENST00000457823.2_Missense_Mutation_p.R419W Q9H4L7 SMRCD_HUMAN SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1 419 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) AACAGAACTCCGGCCCTTTAA 0.383000 6 117 0 0 1 0 0 CDK11A 728642 broad.mit.edu 37 1 1638914 1638914 + Silent SNP G G A TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr1:1638914G>A ENST00000356200.3 - 10 1311 c.1077C>T c.(1075-1077)ccC>ccT p.P359P RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000357760.2_Silent_p.P392P|CDK11A_ENST00000378638.2_Silent_p.P359P|CDK11A_ENST00000378635.3_3'UTR|CDK11A_ENST00000404249.3_Silent_p.P393P|CDK11A_ENST00000358779.5_Silent_p.P383P|CDK11A_ENST00000378633.1_Silent_p.P396P cyclin-dependent kinase 11A central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1) 18 CAGGGGAGTCGGGCACATAGT 0.672000 25 32 0 0 1 0 0 TMEM63C 57156 broad.mit.edu 37 14 77708767 77708767 + Missense_Mutation SNP A A G TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr14:77708767A>G ENST00000298351.4 + 14 1286 c.1142A>G c.(1141-1143)tAt>tGt p.Y381C NM_020431.2 NP_065164.2 Q9P1W3 TM63C_HUMAN transmembrane protein 63C 381 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) GTCAAATCATATTACTGGAGG 0.522000 110 145 0 0 1 0 0 RB1CC1 9821 broad.mit.edu 37 8 53570068 53570068 + Missense_Mutation SNP C C T TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr8:53570068C>T ENST00000025008.5 - 15 2844 c.2321G>A c.(2320-2322)aGt>aAt p.S774N RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000539297.1_Missense_Mutation_p.S774N|RB1CC1_ENST00000435644.2_Missense_Mutation_p.S774N NM_014781.4 NP_055596.3 Q8TDY2 RBCC1_HUMAN RB1-inducible coiled-coil 1 774 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) CATTCGTCTACTGTCTATCGC 0.388000 72 58 0 0 1 0 0 MAF 4094 broad.mit.edu 37 16 79632824 79632824 + Nonsense_Mutation SNP G G A TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr16:79632824G>A ENST00000393350.1 - 1 1787 c.976C>T c.(976-978)Caa>Taa p.Q326* MAF_ENST00000569649.1_Nonsense_Mutation_p.Q326*|MAF_ENST00000326043.4_Nonsense_Mutation_p.Q326* NM_001031804.2 NP_001026974.1 O75444 MAF_HUMAN v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog 326 Leucine-zipper.|Represses ARE-mediated transcription. 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) TGGTCGACTTGCTGCAGCAGC 0.592000 T IGH@ MM 21 22 0 0 1 0 0 CD101 9398 broad.mit.edu 37 1 117556216 117556216 + Missense_Mutation SNP A A G TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr1:117556216A>G ENST00000256652.4 + 4 1088 c.1030A>G c.(1030-1032)Aga>Gga p.R344G CD101_ENST00000369470.1_Missense_Mutation_p.R344G NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4 NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2 Q93033 IGSF2_HUMAN CD101 molecule 344 Ig-like C2-type 3. cell surface receptor linked signaling pathway integral to membrane|plasma membrane hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 CTACAAAGAGAGAGCAAGTCA 0.507000 32 38 0 0 1 0 0 ITGB2 3689 broad.mit.edu 37 21 46321518 46321518 + Silent SNP C C T TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr21:46321518C>T ENST00000397850.2 - 7 1082 c.630G>A c.(628-630)ctG>ctA p.L210L ITGB2_ENST00000397854.3_Silent_p.L153L|ITGB2_ENST00000355153.4_Silent_p.L210L|ITGB2_ENST00000302347.5_Silent_p.L210L|ITGB2_ENST00000397852.1_Silent_p.L210L|ITGB2_ENST00000397857.1_Silent_p.L210L P05107 ITB2_HUMAN integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) 210 VWFA. apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation integrin complex glycoprotein binding|protein kinase binding|receptor activity breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3) 35 Colorectal(79;0.0669) Simvastatin(DB00641) AGTTGTTGGTCAGCTTCAGCA 0.587000 39 72 0 0 1 0 0 FN1 2335 broad.mit.edu 37 2 216256457 216256457 + Missense_Mutation SNP T T C TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr2:216256457T>C ENST00000354785.4 - 26 4519 c.4150A>G c.(4150-4152)Att>Gtt p.I1384V FN1_ENST00000357867.4_Missense_Mutation_p.I1293V|FN1_ENST00000356005.4_Missense_Mutation_p.I1293V|FN1_ENST00000336916.4_Missense_Mutation_p.I1293V|FN1_ENST00000432072.2_Missense_Mutation_p.I1384V|FN1_ENST00000359671.1_Missense_Mutation_p.I1293V|FN1_ENST00000323926.6_Missense_Mutation_p.I1384V|FN1_ENST00000346544.3_Missense_Mutation_p.I1293V|FN1_ENST00000357009.2_Missense_Mutation_p.I1293V|FN1_ENST00000421182.1_Missense_Mutation_p.I1293V|FN1_ENST00000345488.5_Missense_Mutation_p.I1293V|FN1_ENST00000446046.1_Missense_Mutation_p.I1293V|FN1_ENST00000443816.1_Missense_Mutation_p.I1293V P02751 FINC_HUMAN fibronectin 1 1383 Cell-attachment.|Fibronectin type-III 9. acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix collagen binding|extracellular matrix structural constituent|heparin binding FN1/ALK(2) NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 109 Renal(323;0.127) Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GTTAAATCAATGGATGGGGGT 0.488000 37 61 0 0 1 0 0 CDH17 1015 broad.mit.edu 37 8 95161064 95161064 + Missense_Mutation SNP A A T TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr8:95161064A>T ENST00000027335.3 - 14 1959 c.1835T>A c.(1834-1836)aTt>aAt p.I612N CDH17_ENST00000441892.2_Missense_Mutation_p.I398N|CDH17_ENST00000450165.2_Missense_Mutation_p.I612N NM_004063.3 NP_004054.3 Q12864 CAD17_HUMAN cadherin 17, LI cadherin (liver-intestine) 612 Cadherin 6. integral to membrane calcium ion binding NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2) 52 Breast(36;4.65e-06) BRCA - Breast invasive adenocarcinoma(8;0.00691) CACGTGGTCAATTTTAAGCCA 0.448000 19 15 0 0 1 0 0 ETFB 2109 broad.mit.edu 37 19 51853643 51853643 + Silent SNP G G A TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr19:51853643G>A ENST00000354232.4 - 3 3118 c.651C>T c.(649-651)gcC>gcT p.A217A CTD-2616J11.9_ENST00000600974.1_RNA|CTD-2616J11.11_ENST00000600067.1_3'UTR|ETFB_ENST00000309244.4_Silent_p.A126A NM_001014763.1 NP_001014763.1 P38117 ETFB_HUMAN electron-transfer-flavoprotein, beta polypeptide 126 respiratory electron transport chain|transport mitochondrial matrix electron carrier activity kidney(2)|large_intestine(1)|lung(3) 6 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000226)|OV - Ovarian serous cystadenocarcinoma(262;0.00661) catcatcgatggcctgaatgg 0.532000 4 6 0 0 1 0 0 SEC16A 9919 broad.mit.edu 37 9 139369049 139369049 + Missense_Mutation SNP T T C TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr9:139369049T>C ENST00000313050.7 - 1 3092 c.3019A>G c.(3019-3021)Aac>Gac p.N1007D SEC16A_ENST00000371706.3_Missense_Mutation_p.N829D|SEC16A_ENST00000290037.6_Missense_Mutation_p.N829D|SEC16A_ENST00000431893.2_Missense_Mutation_p.N829D NM_014866.1 NP_055681.1 O15027 SC16A_HUMAN SEC16 homolog A (S. cerevisiae) 829 Required for endoplasmic reticulum localization. protein transport|vesicle-mediated transport endoplasmic reticulum membrane|Golgi membrane breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 Myeloproliferative disorder(178;0.0511) Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06) TTGTACACGTTTACAGGATTT 0.507000 14 17 0 0 1 0 0 PCDHB10 56126 broad.mit.edu 37 5 140574332 140574332 + Missense_Mutation SNP G G T TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr5:140574332G>T ENST00000239446.4 + 1 2391 c.2207G>T c.(2206-2208)gGg>gTg p.G736V NM_018930.3 NP_061753.1 Q9UN67 PCDBA_HUMAN 736 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 76 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCTTTTCCAGGGCATCTGGTG 0.652000 61 120 9.77497e-20 1.07074e-19 1 1 0 TMEM14E 645843 broad.mit.edu 37 3 152058460 152058460 + Silent SNP C C T TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr3:152058460C>T ENST00000408960.3 - 1 319 c.234G>A c.(232-234)gcG>gcA p.A78A MBNL1_ENST00000485509.1_Intron|MBNL1_ENST00000324196.5_Intron|MBNL1_ENST00000493459.1_Intron|MBNL1_ENST00000492948.1_Intron|MBNL1_ENST00000485910.1_Intron|MBNL1_ENST00000357472.3_Intron|MBNL1_ENST00000282488.7_Intron|MBNL1_ENST00000545754.1_Intron|MBNL1_ENST00000355460.2_Intron|MBNL1_ENST00000463374.1_Intron|MBNL1_ENST00000324210.5_Intron|MBNL1_ENST00000498502.1_Intron|MBNL1_ENST00000282486.6_Intron NM_001123228.1 NP_001116700.1 Q6UXP3 TM14E_HUMAN transmembrane protein 14E 78 integral to membrane lung(1) 1 GAATCTTATTCGCATAATACC 0.443000 5 78 0 0 1 0 0 PCDHB11 56125 broad.mit.edu 37 5 140581569 140581569 + Missense_Mutation SNP G G A TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr5:140581569G>A ENST00000354757.3 + 1 2222 c.2222G>A c.(2221-2223)gGc>gAc p.G741D PCDHB11_ENST00000536699.1_Missense_Mutation_p.G376D NM_018931.2 NP_061754.1 Q9Y5F2 PCDBB_HUMAN 741 calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GACGTGAGCGGCACCGGGACC 0.597000 111 133 0 0 1 0 0 ZNF33B 7582 broad.mit.edu 37 10 43088239 43088239 + Missense_Mutation SNP G G C TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr10:43088239G>C ENST00000359467.3 - 5 2273 c.2159C>G c.(2158-2160)tCt>tGt p.S720C ZNF33B_ENST00000486187.1_RNA NM_006955.1 NP_008886.1 Q06732 ZN33B_HUMAN zinc finger protein 33B 720 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1) 29 ACACTGACAAGATTTCTCTCC 0.418000 45 61 0 0 1 0 0 VCX3A 51481 broad.mit.edu 37 X 6451816 6451816 + Silent SNP C C T rs140689741 byFrequency TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chrX:6451816C>T ENST00000381089.3 - 3 837 c.531G>A c.(529-531)gaG>gaA p.E177E VCX3A_ENST00000398729.1_Silent_p.E157E NM_016379.3 NP_057463.2 Q9NNX9 VCX3_HUMAN variable charge, X-linked 3A 177 8 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.|Glu-rich. brain development nucleolus NS(1)|lung(2)|pancreas(1) 4 CCATCTCGCTCTCCTGACTCA 0.587000 79 114 0 0 1 0 0 FMO5 2330 broad.mit.edu 37 1 146658822 146658822 + Missense_Mutation SNP T T C TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr1:146658822T>C ENST00000254090.4 - 9 1647 c.1259A>G c.(1258-1260)tAt>tGt p.Y420C FMO5_ENST00000369272.3_3'UTR|FMO5_ENST00000441068.2_Intron|RP11-337C18.8_ENST00000606757.1_RNA|RP11-337C18.8_ENST00000607149.1_RNA|RP11-337C18.10_ENST00000606856.1_RNA NM_001461.2 NP_001452.2 P49326 FMO5_HUMAN flavin containing monooxygenase 5 420 integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1) 25 all_hematologic(923;0.0487) GCTCTCCACATACCTAAAGTA 0.468000 25 24 0 0 1 0 0 POLR3C 10623 broad.mit.edu 37 1 145608502 145608502 + Missense_Mutation SNP G G A TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr1:145608502G>A ENST00000334163.3 - 3 465 c.305C>T c.(304-306)aCt>aTt p.T102I POLR3C_ENST00000471254.1_5'UTR|POLR3C_ENST00000369294.1_Missense_Mutation_p.T102I NM_006468.6 NP_006459.3 Q9BUI4 RPC3_HUMAN polymerase (RNA) III (DNA directed) polypeptide C (62kD) 102 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus DNA-directed RNA polymerase III complex DNA binding|DNA-directed RNA polymerase activity breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786) Epithelial(2;7.55e-13) CAGCTCTCCAGTGTCACTGTA 0.498000 51 58 0 0 1 0 0 ZNF473 25888 broad.mit.edu 37 19 50550254 50550254 + Missense_Mutation SNP C C T TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr19:50550254C>T ENST00000595661.1 + 6 3049 c.2554C>T c.(2554-2556)Cgg>Tgg p.R852W CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000601364.1_Intron|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000391821.2_Missense_Mutation_p.R852W|ZNF473_ENST00000270617.3_Missense_Mutation_p.R852W|ZNF473_ENST00000445728.3_Missense_Mutation_p.R840W Q8WTR7 ZN473_HUMAN zinc finger protein 473 852 histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription Cajal body DNA binding|protein binding|zinc ion binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 37 all_neural(266;0.0459)|Ovarian(192;0.0728) GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058) GAAAGCCTTTCGGTGCCACTC 0.537000 OREG0025632 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 30 40 0 0 1 0 0 MEIG1 644890 broad.mit.edu 37 10 15008583 15008583 + Missense_Mutation SNP G G A TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr10:15008583G>A ENST00000407572.1 + 2 264 c.116G>A c.(115-117)aGa>aAa p.R39K MEIG1_ENST00000378240.1_Missense_Mutation_p.R39K NM_001080836.2 NP_001074305.1 Q5JSS6 MEIG1_HUMAN meiosis/spermiogenesis associated 1 39 kidney(1)|ovary(1)|prostate(1) 3 ACCGAATATAGACAAGTGAAA 0.343000 30 40 0 0 1 0 0 TPR 7175 broad.mit.edu 37 1 186330825 186330825 + Missense_Mutation SNP G G A TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr1:186330825G>A ENST00000367478.4 - 9 1183 c.887C>T c.(886-888)tCa>tTa p.S296L TPR_ENST00000474852.1_5'UTR 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) CTTTGCTTCTGAGTCATCAGC 0.378000 T NTRK1 papillary thyroid 35 46 0 0 1 0 0 RAD23A 5886 broad.mit.edu 37 19 13059625 13059625 + Missense_Mutation SNP A A G TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr19:13059625A>G ENST00000586534.1 + 5 659 c.598A>G c.(598-600)Acg>Gcg p.T200A RAD23A_ENST00000316856.3_Missense_Mutation_p.T200A|RAD23A_ENST00000592268.1_Missense_Mutation_p.T200A|RAD23A_ENST00000541222.1_Missense_Mutation_p.T35A|RAD23A_ENST00000588826.2_3'UTR P54725 RD23A_HUMAN RAD23 homolog A (S. cerevisiae) 200 UBA 1. T -> M (in dbSNP:rs4987202). interspecies interaction between organisms|nucleotide-excision repair|positive regulation of viral genome replication|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process nucleus|proteasome complex damaged DNA binding|polyubiquitin binding|single-stranded DNA binding central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1) 12 GTATCTGCTCACGGTGAGGTG 0.647000 Nucleotide excision repair (NER) 71 85 0 0 1 0 0 RSF1 51773 broad.mit.edu 37 11 77412850 77412850 + Missense_Mutation SNP G G A TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr11:77412850G>A ENST00000308488.6 - 6 1726 c.1424C>T c.(1423-1425)tCt>tTt p.S475F RSF1_ENST00000360355.2_Missense_Mutation_p.S444F|RSF1_ENST00000480887.1_Missense_Mutation_p.S223F Q96T23 RSF1_HUMAN remodeling and spacing factor 1 475 S -> P (in dbSNP:rs7950873). CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent RSF complex histone binding|protein binding|zinc ion binding breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1) 43 all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152) Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31) TCTGTCCTTAGAGGGGCTATA 0.393000 45 55 0 0 1 0 0 TTN 7273 broad.mit.edu 37 2 179425870 179425870 + Missense_Mutation SNP C C T TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr2:179425870C>T ENST00000589042.1 - 326 85213 c.84989G>A c.(84988-84990)aGg>aAg p.R28330K TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R19390K|TTN_ENST00000460472.2_Missense_Mutation_p.R19265K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R25762K|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R19457K|TTN_ENST00000591111.1_Missense_Mutation_p.R26689K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 26689 Fibronectin type-III 106. 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) AGCAGCATTCCTTGCAAAAAC 0.408000 49 63 0 0 1 0 0 ABHD11 83451 broad.mit.edu 37 7 73151303 73151303 + Silent SNP G G A TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr7:73151303G>A ENST00000222800.3 - 5 840 c.771C>T c.(769-771)ctC>ctT p.L257L ABHD11_ENST00000458339.1_Intron|ABHD11_ENST00000395147.4_Silent_p.L200L|ABHD11_ENST00000437775.2_Silent_p.L250L NM_148912.2 NP_683710.1 Q8NFV4 ABHDB_HUMAN abhydrolase domain containing 11 257 hydrolase activity breast(1)|endometrium(1)|large_intestine(1)|lung(1) 4 Lung NSC(55;0.0908)|all_lung(88;0.198) GTGTTGGCCCGAGGTAGGACT 0.582000 108 122 0 0 1 0 0 ZBTB38 253461 broad.mit.edu 37 3 141163575 141163575 + Nonsense_Mutation SNP C C G TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr3:141163575C>G ENST00000514251.1 + 4 2624 c.2345C>G c.(2344-2346)tCa>tGa p.S782* ZBTB38_ENST00000441582.2_Nonsense_Mutation_p.S782*|ZBTB38_ENST00000321464.5_Nonsense_Mutation_p.S783* Q8NAP3 ZBT38_HUMAN zinc finger and BTB domain containing 38 782 positive regulation of transcription from RNA polymerase II promoter nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 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 AAAACTACATCACATACCAGG 0.438000 21 38 0 0 1 0 0 C22orf31 25770 broad.mit.edu 37 22 29454979 29454979 + Silent SNP G G T TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr22:29454979G>T ENST00000216071.4 - 3 675 c.624C>A c.(622-624)ctC>ctA p.L208L NM_015370.1 NP_056185.1 O95567 CV031_HUMAN chromosome 22 open reading frame 31 208 cervix(1)|endometrium(1)|kidney(17)|large_intestine(2)|lung(4)|prostate(1)|skin(1) 27 CCTCTGTGGGGAGACCATGGA 0.592000 42 71 1.96642e-18 2.14694e-18 1 1 0 WDR59 79726 broad.mit.edu 37 16 74955920 74955920 + Silent SNP A A G TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr16:74955920A>G ENST00000262144.6 - 10 941 c.811T>C c.(811-813)Ttg>Ctg p.L271L NM_030581.3 NP_085058.3 Q6PJI9 WDR59_HUMAN WD repeat domain 59 271 breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1) 27 GGGGTGTTCAAGTCAAAGACA 0.552000 17 46 0 0 1 0 0 SLC30A9 10463 broad.mit.edu 37 4 42025319 42025319 + Splice_Site SNP A A G TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr4:42025319A>G ENST00000264451.7 + 6 708 c.528A>G c.(526-528)aaA>aaG p.K176K NM_006345.3 NP_006336.3 Q6PML9 ZNT9_HUMAN solute carrier family 30 (zinc transporter), member 9 nucleotide-excision repair|zinc ion transport cytoskeleton|integral to membrane|nucleus cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 25 GTATGCACAGATCTTTGGAAG 0.338000 17 78 0 0 1 0 0 CDKN2A 1029 broad.mit.edu 37 9 21971036 21971036 + Missense_Mutation SNP C C A rs121913381 TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr9:21971036C>A ENST00000579755.1 - 2 657 c.365G>T c.(364-366)cGa>cTa p.R122L CDKN2A_ENST00000578845.2_Missense_Mutation_p.D57Y|CDKN2A_ENST00000498124.1_Missense_Mutation_p.D108Y|CDKN2A_ENST00000361570.3_Missense_Mutation_p.R163L|CDKN2A_ENST00000446177.1_Missense_Mutation_p.D108Y|CDKN2A_ENST00000579122.1_Missense_Mutation_p.D108Y|CDKN2A_ENST00000494262.1_Missense_Mutation_p.D57Y|CDKN2A_ENST00000497750.1_Missense_Mutation_p.D57Y|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Missense_Mutation_p.D57Y|CDKN2A_ENST00000530628.2_Missense_Mutation_p.R122L|CDKN2A_ENST00000479692.2_Missense_Mutation_p.D57Y|CDKN2A_ENST00000304494.5_Missense_Mutation_p.D108Y P42771 CD2A1_HUMAN cyclin-dependent kinase inhibitor 2A 138 G -> R (in CMM2).|G -> S (in a biliary tract tumor). cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence cytosol|nucleus cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding p.0?(1315)|p.?(44)|p.D108Y(18)|p.D108N(7)|p.D108H(7)|p.R163L(3)|p.H83fs*2(2)|p.D105fs*8(1)|p.0(1)|p.R163Q(1)|p.A68fs*3(1)|p.R107fs*33(1) NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2) 4199 all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172) all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05) CCCCAGGCATCGCGCACGTCC 0.741000 17 HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07) 34 6 4.31634e-10 4.56298e-10 1 1 0 PRAMEF1 65121 broad.mit.edu 37 1 12855886 12855886 + Missense_Mutation SNP T T C TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr1:12855886T>C ENST00000332296.7 + 4 1269 c.1166T>C c.(1165-1167)aTg>aCg p.M389T PRAMEF1_ENST00000400814.3_Missense_Mutation_p.M144T NM_023013.2 NP_075389.1 O95521 PRAM1_HUMAN PRAME family member 1 389 cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 35 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) AGAAATTGCATGTCTATTGAC 0.562000 8 167 0 0 1 0 0 MTUS1 57509 broad.mit.edu 37 8 17611597 17611597 + Missense_Mutation SNP T T A TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr8:17611597T>A ENST00000381869.3 - 2 2193 c.1720A>T c.(1720-1722)Aca>Tca p.T574S MTUS1_ENST00000262102.6_Missense_Mutation_p.T574S|MTUS1_ENST00000381862.3_Missense_Mutation_p.T574S|MTUS1_ENST00000519263.1_Missense_Mutation_p.T574S NM_001001925.2 NP_001001925.1 Q9ULD2 MTUS1_HUMAN microtubule associated tumor suppressor 1 574 Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1) 36 Colorectal(111;0.0778) TGCTTATGTGTCTTGTTAATT 0.388000 67 145 0 0 1 0 0 KCNMA1 3778 broad.mit.edu 37 10 78799306 78799306 + Silent SNP C C G TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr10:78799306C>G ENST00000286627.5 - 15 2791 c.1839G>C c.(1837-1839)ctG>ctC p.L613L KCNMA1_ENST00000286628.8_Silent_p.L613L|KCNMA1_ENST00000404771.3_Silent_p.L613L|KCNMA1_ENST00000372443.1_Silent_p.L613L|KCNMA1_ENST00000354353.5_Silent_p.L613L|KCNMA1_ENST00000406533.3_Silent_p.L613L|KCNMA1_ENST00000372440.1_Silent_p.L613L|KCNMA1_ENST00000404857.1_Silent_p.L613L NM_001271519.1|NM_002247.3 NP_001258448.1|NP_002238.2 Q12791 KCMA1_HUMAN potassium large conductance calcium-activated channel, subfamily M, alpha member 1 613 Segment S8. cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2) 68 all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198) OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183) Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021) TAGGGAAGGACAGACCCACGA 0.458000 11 21 0 0 1 0 0 MFAP3L 9848 broad.mit.edu 37 4 170912534 170912534 + Missense_Mutation SNP C C A TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr4:170912534C>A ENST00000361618.3 - 3 1532 c.1225G>T c.(1225-1227)Gtc>Ttc p.V409F RP11-6E9.4_ENST00000508955.1_RNA|MFAP3L_ENST00000393704.3_Missense_Mutation_p.V306F NM_021647.6 NP_067679.6 O75121 MFA3L_HUMAN microfibrillar-associated protein 3-like 409 integral to membrane|plasma membrane cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17) GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116) TGGTATTAGACATGGCTTTCG 0.473000 33 62 1.57351e-24 1.76424e-24 1 1 0 KLF4 9314 broad.mit.edu 37 9 110250469 110250469 + Missense_Mutation SNP G G C TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr9:110250469G>C ENST00000374672.4 - 3 679 c.206C>G c.(205-207)aCc>aGc p.T69S NM_004235.4 NP_004226.3 O43474 KLF4_HUMAN Kruppel-like factor 4 (gut) 69 fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter nucleus RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2) 16 TGTGGCCACGGTCGCCGCCGC 0.701000 4 34 0 0 1 0 0 HOXC13 3229 broad.mit.edu 37 12 54333305 54333305 + Missense_Mutation SNP C C G TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr12:54333305C>G ENST00000243056.3 + 1 771 c.615C>G c.(613-615)caC>caG p.H205Q HOXC-AS5_ENST00000512916.2_RNA NM_017410.2 NP_059106.2 P31276 HXC13_HUMAN homeobox C13 205 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|large_intestine(1)|skin(1) 3 AGCCGCGTCACGACGCCCTCA 0.672000 T NUP98 AML 10 21 0 0 1 0 0 RALGAPB 57148 broad.mit.edu 37 20 37163777 37163777 + Missense_Mutation SNP G G A TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr20:37163777G>A ENST00000262879.6 + 16 2590 c.2306G>A c.(2305-2307)aGa>aAa p.R769K RALGAPB_ENST00000397040.1_Missense_Mutation_p.R769K|RALGAPB_ENST00000397042.3_Missense_Mutation_p.R765K|RALGAPB_ENST00000397038.1_Missense_Mutation_p.R547K Q86X10 RLGPB_HUMAN Ral GTPase activating protein, beta subunit (non-catalytic) 769 activation of Ral GTPase activity intracellular protein heterodimerization activity|Ral GTPase activator activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 65 GTCACCCAAAGACTCAACTCC 0.498000 98 111 0 0 1 0 0 SORBS2 8470 broad.mit.edu 37 4 186583280 186583280 + Silent SNP G G C TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr4:186583280G>C ENST00000431808.1 - 6 635 c.72C>G c.(70-72)gtC>gtG p.V24V SORBS2_ENST00000437304.2_Silent_p.V203V|SORBS2_ENST00000449407.2_Silent_p.V110V|SORBS2_ENST00000448662.2_Silent_p.V93V|SORBS2_ENST00000319471.9_Silent_p.V110V|SORBS2_ENST00000284776.7_Silent_p.V24V|SORBS2_ENST00000393528.3_Silent_p.V70V|SORBS2_ENST00000355634.5_Silent_p.V124V O94875 SRBS2_HUMAN sorbin and SH3 domain containing 2 24 actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1) 53 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) CGTGCTGCATGACAATGCTGG 0.512000 6 38 0 0 1 0 0 TMEM143 55260 broad.mit.edu 37 19 48837376 48837376 + Missense_Mutation SNP C C G TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr19:48837376C>G ENST00000293261.3 - 7 1370 c.1054G>C c.(1054-1056)Gag>Cag p.E352Q TMEM143_ENST00000377431.2_Missense_Mutation_p.E252Q|TMEM143_ENST00000541566.1_Missense_Mutation_p.E242Q|TMEM143_ENST00000436660.2_Missense_Mutation_p.E287Q|TMEM143_ENST00000435956.3_Missense_Mutation_p.E317Q NM_018273.2 NP_060743.2 Q96AN5 TM143_HUMAN transmembrane protein 143 352 integral to membrane|mitochondrion endometrium(2)|kidney(1)|large_intestine(2)|lung(9) 14 all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113) OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157) CTGAGCAGCTCCGAGTTGTTG 0.701000 OREG0025605 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 7 0 0 1 0 0 LRRC66 339977 broad.mit.edu 37 4 52861766 52861766 + Silent SNP A A G TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr4:52861766A>G ENST00000343457.3 - 4 1428 c.1422T>C c.(1420-1422)acT>acC p.T474T NM_001024611.1 NP_001019782.1 Q68CR7 LRC66_HUMAN leucine rich repeat containing 66 474 integral to membrane central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1) 58 TCCTTCCCAGAGTTCTATCAG 0.547000 55 58 0 0 1 0 0 SUV420H2 84787 broad.mit.edu 37 19 55857972 55857972 + Missense_Mutation SNP G G C TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr19:55857972G>C ENST00000255613.3 + 8 1060 c.812G>C c.(811-813)gGc>gCc p.G271A NM_032701.3 NP_116090.2 Q86Y97 SV422_HUMAN suppressor of variegation 4-20 homolog 2 (Drosophila) 271 regulation of transcription, DNA-dependent|transcription, DNA-dependent protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2) 4 Breast(117;0.191) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.044) CTGCAGCAAGGCCTGGACAGT 0.701000 4 6 0 0 1 0 0 PPP6R1 22870 broad.mit.edu 37 19 55753534 55753534 + Splice_Site SNP C C T TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr19:55753534C>T ENST00000412770.2 - 7 1411 c.845G>A c.(844-846)aGg>aAg p.R282K PPP6R1_ENST00000587283.1_Splice_Site_p.R282K NM_014931.3 NP_055746.3 Q9UPN7 PP6R1_HUMAN protein phosphatase 6, regulatory subunit 1 282 Interaction with PPP6C. regulation of phosphoprotein phosphatase activity cytoplasm protein phosphatase binding breast(1) 1 TATCCCTCACCTCGGCCTCCT 0.642000 80 95 0 0 1 0 0 TNFRSF19 55504 broad.mit.edu 37 13 24167527 24167527 + Missense_Mutation SNP A A G TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr13:24167527A>G ENST00000382263.3 + 3 297 c.113A>G c.(112-114)gAa>gGa p.E38G TNFRSF19_ENST00000464735.1_3'UTR|TNFRSF19_ENST00000248484.4_Missense_Mutation_p.E38G|TNFRSF19_ENST00000382258.4_Missense_Mutation_p.E38G|TNFRSF19_ENST00000403372.2_Intron NM_001204458.1 NP_001191387.1 Q9NS68 TNR19_HUMAN tumor necrosis factor receptor superfamily, member 19 38 apoptosis|induction of apoptosis|JNK cascade integral to membrane|mitochondrion tumor necrosis factor receptor activity breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1) 22 all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19) AGACAGCAAGAATTCAGGGAT 0.373000 4 86 0 0 1 0 0 NCAPD3 23310 broad.mit.edu 37 11 134076622 134076622 + Silent SNP G G A TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr11:134076622G>A ENST00000534548.2 - 8 952 c.888C>T c.(886-888)atC>atT p.I296I NM_015261.2 NP_056076.1 P42695 CNDD3_HUMAN non-SMC condensin II complex, subunit D3 296 cell division|mitotic chromosome condensation nuclear centromeric heterochromatin|nuclear condensin complex methylated histone residue binding NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_hematologic(175;0.127) all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559) Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227) AAACACAACTGATGACCTAGA 0.408000 40 40 0 0 1 0 0 PHF3 23469 broad.mit.edu 37 6 64389969 64389969 + Missense_Mutation SNP G G A TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr6:64389969G>A ENST00000262043.3 + 3 653 c.313G>A c.(313-315)Gaa>Aaa p.E105K PHF3_ENST00000393387.1_Missense_Mutation_p.E105K|PHF3_ENST00000509330.1_Missense_Mutation_p.E105K Q92576 PHF3_HUMAN PHD finger protein 3 105 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) CATTGATGAAGAAGAACTGAT 0.343000 53 73 0 0 1 0 0 IQCB1 9657 broad.mit.edu 37 3 121527763 121527763 + Splice_Site SNP C C T TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr3:121527763C>T ENST00000310864.6 - 6 701 c.487G>A c.(487-489)Gta>Ata p.V163I IQCB1_ENST00000349820.6_Splice_Site_p.V163I NM_001023570.2 NP_001018864.2 Q15051 IQCB1_HUMAN IQ motif containing B1 163 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) TTTCTCTTACCATTCTGAATA 0.348000 9 15 0 0 1 0 0 HOGA1 112817 broad.mit.edu 37 10 99344623 99344623 + Missense_Mutation SNP G G T TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr10:99344623G>T ENST00000370646.4 + 1 524 c.163G>T c.(163-165)Ggg>Tgg p.G55W PI4K2A_ENST00000370649.3_Missense_Mutation_p.G55W|PI4K2A_ENST00000555577.1_Missense_Mutation_p.G55W|HOGA1_ENST00000370647.4_Missense_Mutation_p.G55W NM_138413.3 NP_612422.2 4-hydroxy-2-oxoglutarate aldolase 1 breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|stomach(1) 14 GGTGGACTATGGGAAACTGGA 0.602000 40 59 1.15183e-24 1.29581e-24 1 1 0 NLRC5 84166 broad.mit.edu 37 16 57115511 57115511 + Silent SNP C C T TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr16:57115511C>T ENST00000262510.6 + 48 5703 c.5478C>T c.(5476-5478)atC>atT p.I1826I NLRC5_ENST00000436936.1_3'UTR|NLRC5_ENST00000308149.7_Silent_p.I1797I|NLRC5_ENST00000539144.1_Silent_p.I1797I NM_032206.4 NP_115582.4 Q86WI3 NLRC5_HUMAN NLR family, CARD domain containing 5 1826 defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 75 all_neural(199;0.225) GGTCTAGCATCCAAGTCATCC 0.622000 62 126 0 0 1 0 0 ACACB 32 broad.mit.edu 37 12 109684225 109684225 + Missense_Mutation SNP C C T TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr12:109684225C>T ENST00000338432.7 + 39 5662 c.5543C>T c.(5542-5544)gCt>gTt p.A1848V ACACB_ENST00000543201.1_Missense_Mutation_p.A514V|ACACB_ENST00000377848.3_Missense_Mutation_p.A1848V|ACACB_ENST00000377854.5_Missense_Mutation_p.A1778V O00763 ACACB_HUMAN acetyl-CoA carboxylase beta 1848 Carboxyltransferase. acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation cytosol|endomembrane system|Golgi apparatus|membrane acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 95 Biotin(DB00121) TTCCACGTGGCTTGGGTGGAC 0.557000 8 78 0 0 1 0 0 ATP13A3 79572 broad.mit.edu 37 3 194162174 194162174 + Missense_Mutation SNP C C T TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr3:194162174C>T ENST00000439040.1 - 16 2367 c.1576G>A c.(1576-1578)Gaa>Aaa p.E526K ATP13A3_ENST00000256031.4_Missense_Mutation_p.E526K Q9H7F0 AT133_HUMAN ATPase type 13A3 526 ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 24 all_cancers(143;6.01e-09)|Ovarian(172;0.0634) Melanoma(1037;0.211) OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06) GBM - Glioblastoma multiforme(46;5.98e-05) CACACATTTTCTTCTGGTGAA 0.348000 22 25 0 0 1 0 0 CACNA1D 776 broad.mit.edu 37 3 53531256 53531256 + Missense_Mutation SNP A A G TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr3:53531256A>G ENST00000288139.4 + 2 263 c.145A>G c.(145-147)Act>Gct p.T49A CACNA1D_ENST00000422281.2_Missense_Mutation_p.T49A|CACNA1D_ENST00000350061.5_Missense_Mutation_p.T49A NM_000720.2 NP_000711.1 Q01668 CAC1D_HUMAN calcium channel, voltage-dependent, L type, alpha 1D subunit axon guidance|energy reserve metabolic process|regulation of insulin secretion voltage-gated calcium channel complex voltage-gated calcium channel activity breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 90 BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) Verapamil(DB00661) CTCCAAGCAAACTGTCCTGTC 0.522000 44 48 0 0 1 0 0 SMC1B 27127 broad.mit.edu 37 22 45748428 45748428 + Missense_Mutation SNP T T C TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr22:45748428T>C ENST00000357450.4 - 22 3327 c.3328A>G c.(3328-3330)Aac>Gac p.N1110D SMC1B_ENST00000404354.3_Intron NM_148674.3 NP_683515.3 Q8NDV3 SMC1B_HUMAN structural maintenance of chromosomes 1B 1110 chromosome organization|meiosis chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus ATP binding breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 37 Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0182) GCCACACAGTTATAGCTAATT 0.453000 39 39 0 0 1 0 0 KIAA0754 643314 broad.mit.edu 37 1 39877424 39877424 + Missense_Mutation SNP C C T TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr1:39877424C>T ENST00000530275.1 + 1 1274 c.1079C>T c.(1078-1080)gCt>gTt p.A360V MACF1_ENST00000567887.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000539005.1_Intron NM_015038.1 NP_055853.1 O94854 K0754_HUMAN KIAA0754 360 central_nervous_system(1)|large_intestine(6)|skin(1) 8 Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204) GAAGGGCTGGCTGCATCCCAG 0.408000 29 39 0 0 1 0 0 REG1P 5969 broad.mit.edu 37 2 79364437 79364437 + RNA SNP G G A TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr2:79364437G>A ENST00000444841.1 - 0 197 AGCTGATCTGGGCCTTGGGCA 0.507000 5 35 0 0 1 0 0 DNAJC27 51277 broad.mit.edu 37 2 25174414 25174414 + Missense_Mutation SNP T T C rs151115206 byFrequency TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr2:25174414T>C ENST00000264711.2 - 6 727 c.538A>G c.(538-540)Ata>Gta p.I180V DNAJC27_ENST00000534855.1_Missense_Mutation_p.I109V NM_001198559.1|NM_016544.2 NP_001185488.1|NP_057628.1 Q9NZQ0 DJC27_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 27 180 protein folding|small GTPase mediated signal transduction GTP binding|heat shock protein binding|unfolded protein binding breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1) 13 ACTATGGATATATAAAAGGTC 0.353000 21 28 0 0 1 0 0 FAM189B 10712 broad.mit.edu 37 1 155220929 155220929 + Missense_Mutation SNP G G C TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr1:155220929G>C ENST00000361361.2 - 8 1430 c.921C>G c.(919-921)caC>caG p.H307Q FAM189B_ENST00000472550.1_5'UTR|FAM189B_ENST00000368368.3_Missense_Mutation_p.H289Q|FAM189B_ENST00000350210.2_Missense_Mutation_p.H211Q NM_006589.2 NP_006580.2 P81408 F189B_HUMAN family with sequence similarity 189, member B 307 integral to membrane WW domain binding breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 23 ACGAGCCATCGTGAAGCTGAG 0.587000 OREG0013858 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 15 20 0 0 1 0 0 EP400 57634 broad.mit.edu 37 12 132547114 132547114 + Silent SNP G G A TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr12:132547114G>A ENST00000333577.4 + 48 8419 c.8310G>A c.(8308-8310)caG>caA p.Q2770Q EP400_ENST00000389562.2_Silent_p.Q2733Q|EP400_ENST00000389561.2_Silent_p.Q2734Q|EP400_ENST00000332482.4_Silent_p.Q2697Q|EP400_ENST00000330386.6_Silent_p.Q2653Q Q96L91 EP400_HUMAN E1A binding protein p400 2770 Interaction with ZNF42 (By similarity).|Poly-Gln. 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) agcagcagcagcagcagcagc 0.597000 18 67 0 0 1 0 0 CPSF6 11052 broad.mit.edu 37 12 69652416 69652416 + Silent SNP T T G TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr12:69652416T>G ENST00000435070.2 + 6 851 c.741T>G c.(739-741)ccT>ccG p.P247P CPSF6_ENST00000266679.8_Silent_p.P284P|CPSF6_ENST00000551516.1_Intron|CPSF6_ENST00000456847.3_Intron NM_007007.2 NP_008938.2 Q16630 CPSF6_HUMAN cleavage and polyadenylation specific factor 6, 68kDa 247 Pro-rich. mRNA polyadenylation|protein tetramerization mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex mRNA binding|nucleotide binding|protein binding endometrium(1)|large_intestine(7)|lung(8) 16 all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187) Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241) CAGGCCCACCTGGTCCACCAG 0.512000 4 104 0 0 1 0 0 TBR1 10716 broad.mit.edu 37 2 162273454 162273454 + Missense_Mutation SNP A A G TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr2:162273454A>G ENST00000389554.3 + 1 850 c.533A>G c.(532-534)cAg>cGg p.Q178R NM_006593.2 NP_006584.1 Q16650 TBR1_HUMAN T-box, brain, 1 178 nucleus DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3) 30 CCCTACCCACAGCAGTACGGC 0.637000 61 114 0 0 1 0 0 COL11A1 1301 broad.mit.edu 37 1 103405960 103405960 + Missense_Mutation SNP T T C TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr1:103405960T>C ENST00000358392.2 - 43 3660 c.3343A>G c.(3343-3345)Aga>Gga p.R1115G COL11A1_ENST00000512756.1_Missense_Mutation_p.R987G|COL11A1_ENST00000370096.3_Missense_Mutation_p.R1103G|COL11A1_ENST00000353414.4_Missense_Mutation_p.R1064G NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 1103 Triple-helical region. Missing (in STL2). collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) ACTCCATCTCTCCCTGCAGGC 0.478000 3 45 0 0 1 0 0 CCT6A 908 broad.mit.edu 37 7 56128100 56128100 + Missense_Mutation SNP A A G TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr7:56128100A>G ENST00000275603.4 + 10 1423 c.1204A>G c.(1204-1206)Att>Gtt p.I402V CCT6A_ENST00000335503.3_Missense_Mutation_p.I357V|CCT6A_ENST00000540286.1_Missense_Mutation_p.I371V NM_001762.3 NP_001753.1 P40227 TCPZ_HUMAN chaperonin containing TCP1, subunit 6A (zeta 1) 402 'de novo' posttranslational protein folding cytosol ATP binding|unfolded protein binding breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1) 15 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) CAAAAATGCTATTGATGATGG 0.403000 25 30 0 0 1 0 0 GCLC 2729 broad.mit.edu 37 6 53379250 53379250 + Silent SNP G G A TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr6:53379250G>A ENST00000229416.6 - 5 1089 c.606C>T c.(604-606)gtC>gtT p.V202V GCLC_ENST00000514004.1_Silent_p.V202V NM_001197115.1|NM_001498.3 NP_001184044.1|NP_001489.1 P48506 GSH1_HUMAN glutamate-cysteine ligase, catalytic subunit 202 anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process cytosol ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 22 Lung NSC(77;0.0137) L-Cysteine(DB00151)|L-Glutamic Acid(DB00142) GTACATTGATGACAACCTTTT 0.373000 42 41 0 0 1 0 0 MPZL1 9019 broad.mit.edu 37 1 167742493 167742493 + Missense_Mutation SNP G G A TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr1:167742493G>A ENST00000359523.2 + 4 695 c.493G>A c.(493-495)Gtt>Att p.V165I MPZL1_ENST00000474859.1_Missense_Mutation_p.V165I|MPZL1_ENST00000392121.3_Intron NM_003953.5|NM_024569.4 NP_003944.1|NP_078845.3 O95297 MPZL1_HUMAN myelin protein zero-like 1 165 cell-cell signaling|transmembrane receptor protein tyrosine kinase signaling pathway integral to plasma membrane protein binding|structural molecule activity breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(2) 15 all_hematologic(923;0.215) TGTGTTTCCAGTTTGGGTAGT 0.398000 39 61 0 0 1 0 0 NRAP 4892 broad.mit.edu 37 10 115351978 115351978 + Missense_Mutation SNP C C T TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr10:115351978C>T ENST00000369358.4 - 39 4887 c.4643G>A c.(4642-4644)cGg>cAg p.R1548Q NRAP_ENST00000360478.3_Missense_Mutation_p.R1505Q|NRAP_ENST00000369360.3_Missense_Mutation_p.R1513Q|NRAP_ENST00000359988.3_Missense_Mutation_p.R1540Q Q86VF7 NRAP_HUMAN nebulin-related anchoring protein 1540 fascia adherens|muscle tendon junction actin binding|muscle alpha-actinin binding|zinc ion binding autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 95 Colorectal(252;0.0233)|Breast(234;0.188) Epithelial(162;0.00392)|all cancers(201;0.00569) CCTAGATGCCCGGGCAGTCTG 0.507000 20 35 0 0 1 0 0 ADAMTS7 11173 broad.mit.edu 37 15 79092781 79092781 + Missense_Mutation SNP C C T TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr15:79092781C>T ENST00000388820.4 - 2 419 c.209G>A c.(208-210)cGg>cAg p.R70Q ADAMTS7_ENST00000566303.1_5'UTR NM_014272.3 NP_055087.2 Q9UKP4 ATS7_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 7 70 proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9) 54 AGATACATCCCGCTTGCGCAG 0.687000 10 18 0 0 1 0 0 FTH1 2495 broad.mit.edu 37 11 61732222 61732222 + Nonsense_Mutation SNP C C A TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr11:61732222C>A ENST00000273550.7 - 4 763 c.529G>T c.(529-531)Gga>Tga p.G177* FTH1_ENST00000532601.1_Nonsense_Mutation_p.G107*|FTH1_ENST00000526640.1_Nonsense_Mutation_p.G147*|FTH1_ENST00000529631.1_Intron|BEST1_ENST00000449131.2_3'UTR|FTH1_ENST00000529191.1_Intron NM_002032.2 NP_002023.2 P02794 FRIH_HUMAN ferritin, heavy polypeptide 1 177 LGDSDNES -> WETVIMKAKPRANFP (in Ref. 1; CAA25086). cell proliferation|cellular membrane organization|immune response|intracellular sequestering of iron ion|iron ion transport|negative regulation of cell proliferation|post-Golgi vesicle-mediated transport cytosol|intracellular ferritin complex ferric iron binding|ferroxidase activity|protein binding NS(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 8 Iron Dextran(DB00893) TCACTGTCTCCCAGGGTGTGC 0.532000 4 55 0.150653 0.150653 1 1 0 OMP 4975 broad.mit.edu 37 11 76814244 76814244 + Missense_Mutation SNP C C T TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr11:76814244C>T ENST00000529803.1 + 1 359 c.359C>T c.(358-360)gCc>gTc p.A120V CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Intron|CAPN5_ENST00000278559.3_Intron|CAPN5_ENST00000456580.2_Intron NM_006189.1 NP_006180.1 P47874 OMP_HUMAN olfactory marker protein 120 sensory perception of smell|synaptic transmission endometrium(1)|kidney(1)|large_intestine(2)|lung(1) 5 TGGAATGAGGCCGACGCCCTG 0.617000 42 37 0 0 1 0 0 RAB3B 5865 broad.mit.edu 37 1 52442749 52442749 + Missense_Mutation SNP G G A TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr1:52442749G>A ENST00000371655.3 - 2 253 c.41C>T c.(40-42)gCc>gTc p.A14V NM_002867.3 NP_002858.2 P20337 RAB3B_HUMAN RAB3B, member RAS oncogene family 14 protein transport|small GTPase mediated signal transduction plasma membrane GTP binding|GTPase activity large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1) 9 CTGGTCAGAGGCATCTTTGAC 0.473000 33 51 0 0 1 0 0 PLS1 5357 broad.mit.edu 37 3 142430803 142430803 + Missense_Mutation SNP C C T rs149708405 TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr3:142430803C>T ENST00000337777.3 + 16 2057 c.1844C>T c.(1843-1845)aCg>aTg p.T615M PLS1_ENST00000497002.1_Missense_Mutation_p.T615M|PLS1_ENST00000457734.2_Missense_Mutation_p.T615M NM_002670.2 NP_002661.2 Q14651 PLSI_HUMAN plastin 1 615 Actin-binding 2.|CH 4. cytoplasm actin filament binding|calcium ion binding|structural constituent of cytoskeleton NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1) 27 ATGGTTATGACGGTGTTTGCA 0.388000 69 94 0 0 1 0 0 TTC12 54970 broad.mit.edu 37 11 113194054 113194054 + Nonsense_Mutation SNP C C T TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr11:113194054C>T ENST00000393020.1 + 3 508 c.103C>T c.(103-105)Cag>Tag p.Q35* TTC12_ENST00000529221.1_Nonsense_Mutation_p.Q35*|TTC12_ENST00000314756.3_Nonsense_Mutation_p.Q35*|TTC12_ENST00000483239.2_Nonsense_Mutation_p.Q35* Q9H892 TTC12_HUMAN tetratricopeptide repeat domain 12 35 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 32 all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187) BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694) AGTTGTGCAACAGAAAGCTGT 0.418000 12 67 0 0 1 0 0 FRG1B 284802 broad.mit.edu 37 20 29625877 29625877 + Missense_Mutation SNP G G A rs7266938 by1000genomes TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr20:29625877G>A ENST00000278882.3 + 5 501 c.121G>A c.(121-123)Gcc>Acc p.A41T FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T p.A41T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTACAGAATCGCCCTGAAATC 0.358000 4 97 0 0 1 0 0 SLC36A1 206358 broad.mit.edu 37 5 150867635 150867635 + Silent SNP G G A TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr5:150867635G>A ENST00000243389.3 + 11 1474 c.1251G>A c.(1249-1251)ccG>ccA p.P417P SLC36A1_ENST00000520701.1_Silent_p.P417P NM_078483.2 NP_510968.2 Q7Z2H8 S36A1_HUMAN solute carrier family 36 (proton/amino acid symporter), member 1 417 cellular nitrogen compound metabolic process|ion transport endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane amino acid transmembrane transporter activity|symporter activity endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1) 25 Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Glycine(DB00145)|L-Alanine(DB00160) TCATCCCACCGCTCCTGGAGG 0.632000 25 30 0 0 1 0 0 ACER3 55331 broad.mit.edu 37 11 76709821 76709821 + Missense_Mutation SNP G G C TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr11:76709821G>C ENST00000532485.1 + 7 557 c.453G>C c.(451-453)atG>atC p.M151I ACER3_ENST00000544113.1_Missense_Mutation_p.M18I|ACER3_ENST00000538157.1_Missense_Mutation_p.M109I|ACER3_ENST00000533873.1_Missense_Mutation_p.M114I|ACER3_ENST00000526597.1_Missense_Mutation_p.M56I NM_018367.5 NP_060837.3 Q9NUN7 ACER3_HUMAN alkaline ceramidase 3 151 ceramide metabolic process|phytosphingosine biosynthetic process|positive regulation of cell proliferation|sphingosine biosynthetic process integral to endoplasmic reticulum membrane|integral to Golgi membrane phytoceramidase activity endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1) 9 TGTATGGAATGTTGGTCTTTA 0.348000 9 19 0 0 1 0 0 KLRC2 3822 broad.mit.edu 37 12 10588574 10588574 + Missense_Mutation SNP T T G TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr12:10588574T>G ENST00000381902.2 - 1 18 c.12A>C c.(10-12)caA>caC p.Q4H KLRC2_ENST00000381901.1_Missense_Mutation_p.Q4H|NKG2-E_ENST00000539033.1_Missense_Mutation_p.Q4H|KLRC2_ENST00000536833.2_Intron NM_002260.3 NP_002251.2 P26717 NKG2C_HUMAN killer cell lectin-like receptor subfamily C, member 2 4 cellular defense response integral to plasma membrane sugar binding|transmembrane receptor activity kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1) 11 AGGTTCCTCTTTGTTTATTCA 0.448000 13 224 0 0 1 0 0 C4orf51 646603 broad.mit.edu 37 4 146653702 146653702 + Missense_Mutation SNP C C G TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr4:146653702C>G ENST00000438731.1 + 6 599 c.599C>G c.(598-600)cCa>cGa p.P200R C4orf51_ENST00000508981.1_3'UTR NM_001080531.1 NP_001074000.1 C9J302 CD051_HUMAN chromosome 4 open reading frame 51 200 haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4) 6 CCCTCATCGCCATTTAACTGA 0.512000 8 21 0 0 1 0 0 FAM124A 220108 broad.mit.edu 37 13 51826227 51826227 + Nonsense_Mutation SNP C C T TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr13:51826227C>T ENST00000322475.8 + 3 859 c.724C>T c.(724-726)Cga>Tga p.R242* FAM124A_ENST00000280057.6_Nonsense_Mutation_p.R278* NM_001242312.1 NP_001229241.1 Q86V42 F124A_HUMAN family with sequence similarity 124A 242 breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1) 26 Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;4.25e-07) GCTGGAGTTCCGAGTGAGGGA 0.602000 17 73 0 0 1 0 0 DCTN2 10540 broad.mit.edu 37 12 57928078 57928078 + Missense_Mutation SNP G G A TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr12:57928078G>A ENST00000548249.1 - 6 788 c.521C>T c.(520-522)gCt>gTt p.A174V DCTN2_ENST00000537439.1_Missense_Mutation_p.A151V|DCTN2_ENST00000543672.1_Missense_Mutation_p.A179V|DCTN2_ENST00000434715.3_Missense_Mutation_p.A179V NM_001261412.1|NM_001261413.1 NP_001248341.1|NP_001248342.1 Q13561 DCTN2_HUMAN dynactin 2 (p50) 174 cell proliferation|G2/M transition of mitotic cell cycle|mitosis centrosome|cytosol|dynactin complex|dynein complex|kinetochore|membrane|microtubule|vesicle motor activity|protein binding endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|upper_aerodigestive_tract(2) 11 TACCCACTTAGCCAGGGCGCC 0.567000 32 40 0 0 1 0 0 PKDCC 91461 broad.mit.edu 37 2 42284784 42284784 + Missense_Mutation SNP G G T TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr2:42284784G>T ENST00000294964.5 + 7 1618 c.1438G>T c.(1438-1440)Gtc>Ttc p.V480F PKDCC_ENST00000480099.1_3'UTR NM_138370.2 NP_612379.2 Q504Y2 PKDCC_HUMAN protein kinase domain containing, cytoplasmic 480 Protein kinase. cell differentiation|embryonic digestive tract development|lung alveolus development|negative regulation of Golgi to plasma membrane protein transport|ossification|palate development|positive regulation of bone mineralization|positive regulation of chondrocyte differentiation|protein transport Golgi apparatus ATP binding|protein kinase activity breast(2)|kidney(1)|lung(5) 8 GAGCCAAGTGGTCCCTGATCC 0.567000 20 16 2.21704e-12 2.3587e-12 1 1 0 STAG1 10274 broad.mit.edu 37 3 136192388 136192388 + Missense_Mutation SNP C C G TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr3:136192388C>G ENST00000383202.2 - 11 1374 c.1118G>C c.(1117-1119)cGa>cCa p.R373P STAG1_ENST00000536929.1_5'UTR|STAG1_ENST00000434713.2_Missense_Mutation_p.R147P|STAG1_ENST00000236698.5_Missense_Mutation_p.R373P NM_005862.2 NP_005853.2 Q8WVM7 STAG1_HUMAN stromal antigen 1 373 SCD. cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase cell junction|chromatin|chromosome, centromeric region|nucleoplasm protein binding NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 TACCTTGAATCGGTTAGTGAA 0.338000 10 38 0 0 1 0 0 PATE2 399967 broad.mit.edu 37 11 125647897 125647897 + Splice_Site SNP G G A TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr11:125647897G>A ENST00000358524.3 - 3 122 c.77C>T c.(76-78)gCg>gTg p.A26V PATE2_ENST00000436890.2_Intron NM_212555.2 NP_997720.1 Q6UY27 PATE2_HUMAN prostate and testis expressed 2 26 extracellular space endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1) 6 TATTTCAGTCGCTGCCAGATA 0.438000 10 41 0 0 1 0 0 NPY5R 4889 broad.mit.edu 37 4 164272307 164272307 + Silent SNP A A G TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr4:164272307A>G ENST00000515560.1 + 4 2404 c.882A>G c.(880-882)gcA>gcG p.A294A NPY5R_ENST00000338566.3_Silent_p.A294A|NPY5R_ENST00000506953.1_Silent_p.A294A Q15761 NPY5R_HUMAN neuropeptide Y receptor Y5 294 cardiac left ventricle morphogenesis|outflow tract morphogenesis integral to plasma membrane NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 42 all_hematologic(180;0.166) Prostate(90;0.109) AGAAGACAGCATGTGTGTTAC 0.423000 40 57 0 0 1 0 0 FOSB 2354 broad.mit.edu 37 19 45975945 45975945 + Missense_Mutation SNP G G A TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr19:45975945G>A ENST00000353609.3 + 4 1284 c.692G>A c.(691-693)gGg>gAg p.G231E FOSB_ENST00000592811.1_Missense_Mutation_p.G182E|FOSB_ENST00000443841.2_Missense_Mutation_p.G88E|FOSB_ENST00000591858.1_Missense_Mutation_p.G192E|FOSB_ENST00000585836.1_Missense_Mutation_p.G156E|FOSB_ENST00000586615.1_Missense_Mutation_p.G182E|FOSB_ENST00000417353.2_Missense_Mutation_p.G195E|ERCC1_ENST00000423698.2_Intron|FOSB_ENST00000592436.1_Missense_Mutation_p.G231E NM_006732.2 NP_006723.2 P53539 FOSB_HUMAN FBJ murine osteosarcoma viral oncogene homolog B 231 behavior|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1) 13 Ovarian(192;0.051)|all_neural(266;0.112) OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242) GAGGGGCCCGGGCCGGGCCCG 0.667000 27 43 0 0 1 0 0 PPP1R10 5514 broad.mit.edu 37 6 30577698 30577698 + Silent SNP G G C TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr6:30577698G>C ENST00000376511.2 - 3 576 c.24C>G c.(22-24)ccC>ccG p.P8P NM_002714.3 NP_002705.2 Q96QC0 PP1RA_HUMAN protein phosphatase 1, regulatory subunit 10 8 Interaction with TOX4 (By similarity). protein import into nucleus|transcription, DNA-dependent PTW/PP1 phosphatase complex DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1) 25 GAAGTTCTTTGGGGTCTATGG 0.483000 27 22 0 0 1 0 0 PARP3 10039 broad.mit.edu 37 3 51981796 51981796 + Missense_Mutation SNP G G A TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr3:51981796G>A ENST00000417220.2 + 11 1805 c.1317G>A c.(1315-1317)atG>atA p.M439I PARP3_ENST00000431474.1_Missense_Mutation_p.M439I|PARP3_ENST00000398755.3_Missense_Mutation_p.M446I|PARP3_ENST00000486510.1_3'UTR Q9Y6F1 PARP3_HUMAN poly (ADP-ribose) polymerase family, member 3 439 PARP catalytic. DNA repair|protein ADP-ribosylation centriole|nucleus NAD+ ADP-ribosyltransferase activity|protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) TCGGCTACATGTTCCTGGGTG 0.612000 68 116 0 0 1 0 0 MYO3A 53904 broad.mit.edu 37 10 26492010 26492010 + Missense_Mutation SNP G G T TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr10:26492010G>T ENST00000265944.5 + 34 4870 c.4704G>T c.(4702-4704)caG>caT p.Q1568H MYO3A_ENST00000478093.1_3'UTR|MYO3A_ENST00000543632.1_Intron NM_017433.4 NP_059129.3 Q8NEV4 MYO3A_HUMAN myosin IIIA 1568 protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception cytoplasm|filamentous actin|filopodium|myosin complex actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2) 146 AAGAACTCCAGAATCAATGTA 0.328000 21 31 1.55469e-16 1.67004e-16 1 1 0 TERF2IP 54386 broad.mit.edu 37 16 75690477 75690477 + Missense_Mutation SNP G G T TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr16:75690477G>T ENST00000300086.4 + 3 1265 c.1168G>T c.(1168-1170)Gta>Tta p.V390L NM_018975.3 NP_061848.2 Q9NYB0 TE2IP_HUMAN telomeric repeat binding factor 2, interacting protein 390 negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent cytoplasm|nuclear telomere cap complex|nucleoplasm DNA binding|protein binding central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1) 5 TGCTCAGAATGTAGCTCGGAG 0.373000 55 65 3.68337e-26 4.15784e-26 1 1 0 STPG1 90529 broad.mit.edu 37 1 24706212 24706212 + Silent SNP G G T TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr1:24706212G>T ENST00000374409.1 - 5 647 c.393C>A c.(391-393)tcC>tcA p.S131S STPG1_ENST00000003583.8_Silent_p.S84S|STPG1_ENST00000468303.1_5'UTR|STPG1_ENST00000440416.1_Silent_p.S84S|STPG1_ENST00000337248.4_Silent_p.S131S NM_001199012.1 NP_001185941.1 sperm-tail PG-rich repeat containing 1 GGAACATGCTGGAACACGAAT 0.413000 37 58 6.97489e-18 7.56559e-18 1 1 0 DLL1 28514 broad.mit.edu 37 6 170594771 170594771 + Missense_Mutation SNP G G T TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr6:170594771G>T ENST00000366756.3 - 6 1081 c.748C>A c.(748-750)Cag>Aag p.Q250K NM_005618.3 NP_005609.3 O00548 DLL1_HUMAN delta-like 1 (Drosophila) 250 EGF-like 1. cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion extracellular region|integral to plasma membrane calcium ion binding|Notch binding NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 33 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584) TACCGGCCCTGCCAGCCCACT 0.587000 6 102 0.00307968 0.00311712 1 1 0 DIAPH3 81624 broad.mit.edu 37 13 60485871 60485871 + Missense_Mutation SNP C C T TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr13:60485871C>T ENST00000400324.4 - 20 2585 c.2365G>A c.(2365-2367)Gtg>Atg p.V789M DIAPH3_ENST00000400330.1_Missense_Mutation_p.V789M|DIAPH3_ENST00000400319.1_Missense_Mutation_p.V719M|DIAPH3_ENST00000267215.4_Missense_Mutation_p.V789M|DIAPH3_ENST00000377908.2_Missense_Mutation_p.V778M|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400320.1_Missense_Mutation_p.V743M NM_001042517.1|NM_001258366.1 NP_001035982.1|NP_001245295.1 Q9NSV4 DIAP3_HUMAN diaphanous-related formin 3 789 FH2. 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) GTACTTACCACAACCACAAAC 0.358000 13 25 0 0 1 0 0 NAP1L5 266812 broad.mit.edu 37 4 89618871 89618871 + Missense_Mutation SNP G G A TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr4:89618871G>A ENST00000323061.5 - 1 515 c.35C>T c.(34-36)cCt>cTt p.P12L HERC3_ENST00000264345.3_Intron|HERC3_ENST00000543130.1_Intron|HERC3_ENST00000402738.1_Intron NM_153757.2 NP_715638.1 Q96NT1 NP1L5_HUMAN nucleosome assembly protein 1-like 5 12 nucleosome assembly nucleus protein binding endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 7 OV - Ovarian serous cystadenocarcinoma(123;0.000181) cgccTGGCTAGGCTCCGCAGG 0.692000 24 24 0 0 1 0 0 CEP70 80321 broad.mit.edu 37 3 138248105 138248105 + Missense_Mutation SNP A A C TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr3:138248105A>C ENST00000264982.3 - 10 1071 c.805T>G c.(805-807)Tca>Gca p.S269A CEP70_ENST00000481834.1_Missense_Mutation_p.S269A|CEP70_ENST00000484888.1_Missense_Mutation_p.S269A|CEP70_ENST00000542237.1_Missense_Mutation_p.S249A|CEP70_ENST00000489254.1_Missense_Mutation_p.S117A NM_024491.2 NP_077817.2 Q8NHQ1 CEP70_HUMAN centrosomal protein 70kDa 269 G2/M transition of mitotic cell cycle centrosome|cytosol protein binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3) 24 TTAGATTTTGATTCCTTGAGT 0.274000 22 22 0 0 1 0 0 CYP4F12 66002 broad.mit.edu 37 19 15806828 15806828 + Nonsense_Mutation SNP C C T TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr19:15806828C>T ENST00000550308.1 + 10 1578 c.1198C>T c.(1198-1200)Cga>Tga p.R400* CYP4F12_ENST00000324632.10_Nonsense_Mutation_p.R400* NM_023944.3 NP_076433 cytochrome P450, family 4, subfamily F, polypeptide 12 NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 Acute lymphoblastic leukemia(2;0.0367) CTTCATCTCCCGATGCTGCAC 0.612000 9 99 0 0 1 0 0 PLD5 200150 broad.mit.edu 37 1 242428744 242428744 + Missense_Mutation SNP G G A TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr1:242428744G>A ENST00000536534.2 - 4 743 c.502C>T c.(502-504)Cgt>Tgt p.R168C PLD5_ENST00000427495.1_Missense_Mutation_p.R106C|PLD5_ENST00000442594.2_Missense_Mutation_p.R76C Q8N7P1 PLD5_HUMAN phospholipase D family, member 5 integral to membrane catalytic activity breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1) 55 Melanoma(84;0.242) OV - Ovarian serous cystadenocarcinoma(106;0.0329) TCAAAAAGACGTTGACCCTGG 0.318000 11 15 0 0 1 0 0 ISM2 145501 broad.mit.edu 37 14 77950716 77950716 + Silent SNP G G A TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr14:77950716G>A ENST00000393684.3 - 4 704 c.313C>T c.(313-315)Ctg>Ttg p.L105L ISM2_ENST00000412904.1_Intron|ISM2_ENST00000342219.4_Silent_p.L193L|ISM2_ENST00000493585.1_Silent_p.L193L|ISM2_ENST00000429906.1_Silent_p.L112L Q6H9L7 ISM2_HUMAN isthmin 2 193 extracellular region endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1) 21 AATTCTGGCAGCTTCTGCAGC 0.607000 57 77 0 0 1 0 0 KIAA1109 84162 broad.mit.edu 37 4 123122274 123122274 + Silent SNP C C T TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr4:123122274C>T ENST00000264501.4 + 15 1864 c.1491C>T c.(1489-1491)ttC>ttT p.F497F KIAA1109_ENST00000455637.1_Silent_p.F497F|KIAA1109_ENST00000388738.3_Silent_p.F497F|KIAA1109_ENST00000495260.1_3'UTR Q2LD37 K1109_HUMAN KIAA1109 497 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 AGAAAAACTTCTTTACAGGTA 0.343000 12 30 0 0 1 0 0 SPAG4 6676 broad.mit.edu 37 20 34204152 34204152 + Missense_Mutation SNP C C A TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr20:34204152C>A ENST00000374273.3 + 1 339 c.227C>A c.(226-228)tCt>tAt p.S76Y NM_003116.1 NP_003107.1 Q9NPE6 SPAG4_HUMAN sperm associated antigen 4 76 spermatogenesis cilium|flagellar axoneme|integral to membrane structural molecule activity NS(1)|cervix(5)|kidney(1)|large_intestine(3)|lung(10)|ovary(1) 21 Lung NSC(9;0.0053)|all_lung(11;0.00785) BRCA - Breast invasive adenocarcinoma(18;0.0127) GCAGGAAGCTCTCAGCAGAAG 0.746000 12 13 1.08611e-07 1.13377e-07 1 1 0 PSMD2 5708 broad.mit.edu 37 3 184025724 184025724 + Missense_Mutation SNP A A G TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr3:184025724A>G ENST00000310118.4 + 19 2903 c.2345A>G c.(2344-2346)cAc>cGc p.H782R PSMD2_ENST00000435761.1_Missense_Mutation_p.H623R|EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000439383.1_Missense_Mutation_p.H652R NM_002808.3 NP_002799.3 Q13200 PSMD2_HUMAN proteasome (prosome, macropain) 26S subunit, non-ATPase, 2 782 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction proteasome regulatory particle enzyme regulator activity|protein binding breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2) 27 all_cancers(143;1.54e-10)|Ovarian(172;0.0339) Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) Bortezomib(DB00188) TGCCCCTACCACAGCGACCGG 0.537000 10 82 0 0 1 0 0 PAXBP1 94104 broad.mit.edu 37 21 34142132 34142132 + Silent SNP T T G TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr21:34142132T>G ENST00000331923.4 - 2 654 c.465A>C c.(463-465)tcA>tcC p.S155S PAXBP1_ENST00000290178.4_Silent_p.S155S|PAXBP1_ENST00000472588.1_5'UTR NM_016631.3 NP_057715.2 PAX3 and PAX7 binding protein 1 TACTTTCAGCTGATGAGTTGA 0.308000 12 20 0 0 1 0 0 MYH2 4620 broad.mit.edu 37 17 10440677 10440677 + Missense_Mutation SNP G G T TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr17:10440677G>T ENST00000245503.5 - 16 2154 c.1770C>A c.(1768-1770)gaC>gaA p.D590E RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.D590E|MYH2_ENST00000532183.2_Missense_Mutation_p.D590E NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 590 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 TAATGTTGTAGTCCACAACAC 0.532000 81 24 1.10345e-40 1.28031e-40 1 1 0 C10orf68 79741 broad.mit.edu 37 10 33134529 33134529 + Silent SNP C C A TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr10:33134529C>A ENST00000375030.2 + 16 1719 c.1101C>A c.(1099-1101)acC>acA p.T367T C10orf68_ENST00000375028.3_Silent_p.T412T|C10orf68_ENST00000375025.4_Silent_p.T472T Q9H943 CJ068_HUMAN chromosome 10 open reading frame 68 408 breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4) 29 AGGAGTCAACCACGACACAAT 0.308000 37 52 9.9191e-30 1.13899e-29 1 1 0 UNC13A 23025 broad.mit.edu 37 19 17729718 17729718 + Silent SNP G G A TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr19:17729718G>A ENST00000428389.2 - 40 4589 c.4590C>T c.(4588-4590)ctC>ctT p.L1530L UNC13A_ENST00000550896.1_Silent_p.L1415L|UNC13A_ENST00000551649.1_Silent_p.L1442L|UNC13A_ENST00000252773.7_Silent_p.L1442L|UNC13A_ENST00000519716.2_Silent_p.L1442L|UNC13A_ENST00000552293.1_Silent_p.L1417L Q9UPW8 UN13A_HUMAN unc-13 homolog A (C. elegans) 1442 exocytosis|intracellular signal transduction cell junction|cytoplasm|presynaptic membrane metal ion binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2) 61 TCCTCACCTTGAGTTTGGACA 0.572000 40 70 0 0 1 0 0 LRCH4 4034 broad.mit.edu 37 7 100180045 100180045 + Silent SNP C C T TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr7:100180045C>T ENST00000310300.6 - 2 310 c.258G>A c.(256-258)gcG>gcA p.A86A LRCH4_ENST00000497245.1_5'UTR NM_002319.3 NP_002310.2 O75427 LRCH4_HUMAN leucine-rich repeats and calponin homology (CH) domain containing 4 86 nervous system development PML body protein binding NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1) 23 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GCTGGCACGCCGCCTCGGGCA 0.637000 24 34 0 0 1 0 0 IL4R 3566 broad.mit.edu 37 16 27374810 27374810 + Missense_Mutation SNP T T C TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr16:27374810T>C ENST00000395762.2 + 11 2396 c.2137T>C c.(2137-2139)Tac>Cac p.Y713H IL4R_ENST00000543915.2_Missense_Mutation_p.Y713H|IL4R_ENST00000170630.2_Missense_Mutation_p.Y713H|IL4R_ENST00000380922.3_Missense_Mutation_p.Y698H NM_000418.3 NP_000409.1 P24394 IL4RA_HUMAN interleukin 4 receptor 713 immune response|production of molecular mediator involved in inflammatory response integral to plasma membrane identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1) 33 TGGCATTGTCTACTCAGCCCT 0.622000 32 50 0 0 1 0 0 PSME4 23198 broad.mit.edu 37 2 54158975 54158975 + Missense_Mutation SNP T T C TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr2:54158975T>C ENST00000404125.1 - 10 1368 c.1313A>G c.(1312-1314)gAa>gGa p.E438G PSME4_ENST00000421748.2_Intron NM_014614.2 NP_055429.2 Q14997 PSME4_HUMAN proteasome (prosome, macropain) activator subunit 4 438 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) CACTTACCTTTCAAGTACAGG 0.458000 25 40 0 0 1 0 0 ZNF432 9668 broad.mit.edu 37 19 52537442 52537442 + Missense_Mutation SNP T T C TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr19:52537442T>C ENST00000594154.1 - 5 1702 c.1490A>G c.(1489-1491)aAt>aGt p.N497S ZNF432_ENST00000221315.5_Missense_Mutation_p.N497S O94892 ZN432_HUMAN zinc finger protein 432 497 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 29 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182) CAGTCCGCTATTCACAATGAA 0.428000 5 45 0 0 1 0 0 ABCA6 23460 broad.mit.edu 37 17 67109434 67109434 + Missense_Mutation SNP A A G TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr17:67109434A>G ENST00000284425.2 - 15 2144 c.1970T>C c.(1969-1971)cTg>cCg p.L657P NM_080284.2 NP_525023.2 Q8N139 ABCA6_HUMAN ATP-binding cassette, sub-family A (ABC1), member 6 657 ABC transporter 1. transport integral to membrane ATP binding|ATPase activity breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 82 Breast(10;5.65e-12) ACGCTCTCTCAGGAGGCTCCA 0.423000 58 13 0 0 1 0 0 ARHGEF28 64283 broad.mit.edu 37 5 73136468 73136468 + Missense_Mutation SNP C C T TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr5:73136468C>T ENST00000545377.1 + 11 1486 c.1310C>T c.(1309-1311)gCa>gTa p.A437V ARHGEF28_ENST00000426542.2_Missense_Mutation_p.A437V|ARHGEF28_ENST00000513841.1_3'UTR|ARHGEF28_ENST00000296799.4_Missense_Mutation_p.A124V|ARHGEF28_ENST00000513042.2_Missense_Mutation_p.A437V|ARHGEF28_ENST00000296794.6_Missense_Mutation_p.A437V|ARHGEF28_ENST00000287898.5_Missense_Mutation_p.A437V|ARHGEF28_ENST00000437974.1_Missense_Mutation_p.A437V NM_001080479.2 NP_001073948.2 Rho guanine nucleotide exchange factor (GEF) 28 GAAGGGACAGCACACACTGAA 0.478000 16 23 0 0 1 0 0 NBEAL1 65065 broad.mit.edu 37 2 204022421 204022421 + Splice_Site SNP G G A TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr2:204022421G>A ENST00000449802.1 + 35 5833 c.e35-1 NM_001114132.1 NP_001107604.1 Q6ZS30 NBEL1_HUMAN neurobeachin-like 1 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 GTTTAAAACAGGTATCCAACA 0.323000 4 82 0 0 1 0 0 PRKAR2B 5577 broad.mit.edu 37 7 106797731 106797731 + Missense_Mutation SNP C C T TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr7:106797731C>T ENST00000265717.4 + 10 1344 c.1085C>T c.(1084-1086)gCa>gTa p.A362V NM_002736.2 NP_002727.2 P31323 KAP3_HUMAN protein kinase, cAMP-dependent, regulatory, type II, beta 362 activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport centrosome|cytosol|plasma membrane cAMP binding|cAMP-dependent protein kinase regulator activity breast(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1) 14 AAACCTCGAGCAGCTTCTGCC 0.483000 22 29 0 0 1 0 0 MB21D1 115004 broad.mit.edu 37 6 74161858 74161858 + Missense_Mutation SNP C C T TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr6:74161858C>T ENST00000370315.3 - 1 141 c.47G>A c.(46-48)gGa>gAa p.G16E MB21D1_ENST00000370318.1_Missense_Mutation_p.G16E NM_138441.2 NP_612450.2 Q8N884 M21D1_HUMAN Mab-21 domain containing 1 16 central_nervous_system(1)|large_intestine(4)|lung(1) 6 GGCAGTGGCTCCGGCCTCGGA 0.657000 8 11 0 0 1 0 0 LYZL6 57151 broad.mit.edu 37 17 34264791 34264791 + Missense_Mutation SNP G G C TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr17:34264791G>C ENST00000585556.1 - 3 603 c.269C>G c.(268-270)tCg>tGg p.S90W LYZL6_ENST00000492340.2_5'UTR|LYZL6_ENST00000293274.4_Missense_Mutation_p.S90W|LYZL6_ENST00000394523.3_Missense_Mutation_p.S90W O75951 LYZL6_HUMAN lysozyme-like 6 90 cell wall macromolecule catabolic process extracellular region lysozyme activity breast(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1) 12 UCEC - Uterine corpus endometrioid carcinoma (308;0.0182) AAGGTTTTCCGAGTAACTCTT 0.483000 37 75 0 0 1 0 0 HOOK3 84376 broad.mit.edu 37 8 42837795 42837795 + Silent SNP G G A rs143579830 TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr8:42837795G>A ENST00000307602.4 + 14 1547 c.1347G>A c.(1345-1347)gaG>gaA p.E449E NM_032410.3 NP_115786.1 Q86VS8 HOOK3_HUMAN hook microtubule-tethering protein 3 449 cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport cis-Golgi network|FHF complex|microtubule|pericentriolar material identical protein binding|microtubule binding NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 31 Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184) all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129) Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114) GAAGTCAGGAGTCTTCAGACA 0.383000 T RET papillary thyroid 31 40 0 0 1 0 0 SHE 126669 broad.mit.edu 37 1 154471628 154471628 + Silent SNP G G A TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr1:154471628G>A ENST00000304760.2 - 2 764 c.678C>T c.(676-678)gaC>gaT p.D226D NM_001010846.2 NP_001010846.1 Q5VZ18 SHE_HUMAN Src homology 2 domain containing E 226 breast(4)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1) 14 all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088) LUSC - Lung squamous cell carcinoma(543;0.185) CCATGTAACCGTCGTTCTCTC 0.423000 12 78 0 0 1 0 0 ARHGEF3 50650 broad.mit.edu 37 3 56785360 56785360 + Missense_Mutation SNP C C A TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr3:56785360C>A ENST00000413728.2 - 5 1064 c.521G>T c.(520-522)gGa>gTa p.G174V ARHGEF3_ENST00000338458.4_Missense_Mutation_p.G200V|ARHGEF3_ENST00000495373.1_Missense_Mutation_p.G168V|ARHGEF3_ENST00000497267.1_Missense_Mutation_p.G139V|ARHGEF3_ENST00000496106.1_Missense_Mutation_p.G174V|ARHGEF3_ENST00000296315.3_Missense_Mutation_p.G168V NM_001128616.1 NP_001122088.1 Q9NR81 ARHG3_HUMAN Rho guanine nucleotide exchange factor (GEF) 3 168 DH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|Rho protein signal transduction cytosol Rho guanyl-nucleotide exchange factor activity cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1) 25 KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193) GTCCAGTGTTCCAAAAATTTG 0.403000 13 21 0.00010058 0.000103056 1 1 0 EP400 57634 broad.mit.edu 37 12 132547111 132547111 + Silent SNP G G A rs142077620 TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr12:132547111G>A ENST00000333577.4 + 48 8416 c.8307G>A c.(8305-8307)caG>caA p.Q2769Q EP400_ENST00000389562.2_Silent_p.Q2732Q|EP400_ENST00000389561.2_Silent_p.Q2733Q|EP400_ENST00000332482.4_Silent_p.Q2696Q|EP400_ENST00000330386.6_Silent_p.Q2652Q Q96L91 EP400_HUMAN E1A binding protein p400 2769 Interaction with ZNF42 (By similarity).|Poly-Gln. 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) agcagcagcagcagcagcagc 0.597000 15 73 0 0 1 0 0 HUWE1 10075 broad.mit.edu 37 X 53634540 53634540 + Missense_Mutation SNP C C G TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chrX:53634540C>G ENST00000342160.3 - 24 2897 c.2440G>C c.(2440-2442)Gac>Cac p.D814H HUWE1_ENST00000218328.8_Missense_Mutation_p.D814H|HUWE1_ENST00000262854.6_Missense_Mutation_p.D814H Q7Z6Z7 HUWE1_HUMAN HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase 814 base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm|nucleus DNA binding|protein binding|ubiquitin-protein ligase activity NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2) 153 GTGGGAAAGTCAATGGGCAGA 0.443000 20 2 0 0 1 0 0 NOL4 8715 broad.mit.edu 37 18 31803132 31803132 + Missense_Mutation SNP G G A TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr18:31803132G>A ENST00000261592.5 - 1 383 c.86C>T c.(85-87)aCc>aTc p.T29I RP11-379L18.1_ENST00000587528.1_RNA|NOL4_ENST00000269185.4_5'UTR|NOL4_ENST00000589544.1_Missense_Mutation_p.T29I NM_001198546.1|NM_003787.4 NP_001185475.1|NP_003778.2 O94818 NOL4_HUMAN nucleolar protein 4 29 nucleolus RNA binding NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 TTTTTTACGGGTCACCGTCTT 0.567000 29 52 0 0 1 0 0 NOMO1 23420 broad.mit.edu 37 16 14960520 14960520 + Missense_Mutation SNP G G C TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr16:14960520G>C ENST00000287667.7 + 15 1949 c.1778G>C c.(1777-1779)aGa>aCa p.R593T NM_014287.3 NP_055102.3 Q15155 NOMO1_HUMAN NODAL modulator 1 593 integral to membrane carbohydrate binding|carboxypeptidase activity|protein binding endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2) 30 TACATGCTGAGATGTTCCCTG 0.498000 13 123 0 0 1 0 0 AIM1 202 broad.mit.edu 37 6 106968675 106968675 + Missense_Mutation SNP G G A TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr6:106968675G>A ENST00000369066.3 + 2 2855 c.2368G>A c.(2368-2370)Gtc>Atc p.V790I NM_001624.2 NP_001615 Q9Y4K1 AIM1_HUMAN absent in melanoma 1 790 sugar binding breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 69 Breast(9;0.0138)|all_epithelial(6;0.169) all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473) Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305) all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858) TGAACAGAGCGTCCTCTTCAA 0.483000 23 27 0 0 1 0 0 CTH 1491 broad.mit.edu 37 1 70904465 70904465 + Missense_Mutation SNP G G C TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr1:70904465G>C ENST00000411986.2 + 10 1249 c.1051G>C c.(1051-1053)Gag>Cag p.E351Q CTH_ENST00000346806.2_Missense_Mutation_p.E339Q|CTH_ENST00000370938.3_Missense_Mutation_p.E383Q NM_001190463.1 NP_001177392.1 P32929 CGL_HUMAN cystathionase (cystathionine gamma-lyase) 383 cysteine biosynthetic process|hydrogen sulfide biosynthetic process|protein homotetramerization|protein-pyridoxal-5-phosphate linkage via peptidyl-N6-pyridoxal phosphate-L-lysine cytoplasm|nucleus cystathionine gamma-lyase activity|L-cysteine desulfhydrase activity|pyridoxal phosphate binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 18 L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114) CTTAGAGGATGAGGAAGACCT 0.423000 40 57 0 0 1 0 0 QRICH1 54870 broad.mit.edu 37 3 49081924 49081924 + Missense_Mutation SNP T T C TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr3:49081924T>C ENST00000395443.2 - 6 2157 c.1685A>G c.(1684-1686)aAt>aGt p.N562S QRICH1_ENST00000479449.1_5'UTR|QRICH1_ENST00000424300.1_Missense_Mutation_p.N562S|QRICH1_ENST00000357496.2_Missense_Mutation_p.N562S NM_198880.1 NP_942581.1 Q2TAL8 QRIC1_HUMAN glutamine-rich 1 562 breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1) 25 BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) TACCCTTCCATTTTCAAAAAG 0.368000 68 69 0 0 1 0 0 TRBV4-2 28616 broad.mit.edu 37 7 142045304 142045304 + RNA SNP G G C TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr7:142045304G>C ENST00000390392.3 + 0 53 GGAGACCAGAGCCCAGCACCT 0.582000 34 66 0 0 1 0 0 RSAD1 55316 broad.mit.edu 37 17 48557062 48557062 + Missense_Mutation SNP G G A TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr17:48557062G>A ENST00000258955.2 + 2 293 c.208G>A c.(208-210)Gcc>Acc p.A70T NM_018346.1 NP_060816.1 Q9HA92 RSAD1_HUMAN radical S-adenosyl methionine domain containing 1 70 porphyrin biosynthetic process mitochondrion 4 iron, 4 sulfur cluster binding|coproporphyrinogen oxidase activity|metal ion binding breast(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 16 Breast(11;1.93e-18) BRCA - Breast invasive adenocarcinoma(22;1.55e-09) GGAGGAGGCTGCCATGCAGAA 0.607000 OREG0024566 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 158 21 0 0 1 0 0 EPHB2 2048 broad.mit.edu 37 1 23191577 23191577 + Missense_Mutation SNP G G A TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr1:23191577G>A ENST00000400191.3 + 5 1193 c.1175G>A c.(1174-1176)cGc>cAc p.R392H EPHB2_ENST00000374627.1_Missense_Mutation_p.R386H|EPHB2_ENST00000465676.1_3'UTR|EPHB2_ENST00000374632.3_Missense_Mutation_p.R392H|EPHB2_ENST00000544305.1_Missense_Mutation_p.R392H|EPHB2_ENST00000374630.3_Missense_Mutation_p.R392H NM_004442.6|NM_017449.3 NP_004433.2|NP_059145.2 P29323 EPHB2_HUMAN EPH receptor B2 392 Fibronectin type-III 1. axon guidance integral to plasma membrane ATP binding|transmembrane-ephrin receptor activity p.R392H(2) NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1) 56 Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258) UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153) ACCGAGCCACGCATTTACATC 0.617000 4 110 0 0 1 0 0 CDC42 998 broad.mit.edu 37 1 22408257 22408257 + Frame_Shift_Del DEL C C - TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr1:22408257delC ENST00000344548.3 + 4 399 c.148delC c.(148-150)ccafs p.P50fs CDC42_ENST00000315554.8_Frame_Shift_Del_p.P50fs|CDC42_ENST00000400259.1_Frame_Shift_Del_p.P50fs|CDC42_ENST00000421089.2_Frame_Shift_Del_p.P92fs|CDC42_ENST00000498236.1_3'UTR NM_001039802.1 NP_001034891.1 P60953 CDC42_HUMAN cell division cycle 42 50 actin cytoskeleton organization|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|establishment or maintenance of cell polarity|macrophage differentiation|muscle cell differentiation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of protein complex assembly|positive regulation of muscle cell differentiation|positive regulation of pseudopodium assembly|regulation of filopodium assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation cytosol|filopodium|plasma membrane GTP binding|GTPase activity|protein binding|thioesterase binding NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4) 12 Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;6.55e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)|Prostate(1639;0.0792) UCEC - Uterine corpus endometrioid carcinoma (279;0.0452)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.35e-07)|COAD - Colon adenocarcinoma(152;7.73e-06)|GBM - Glioblastoma multiforme(114;8.62e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000649)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00767)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.207) TGGTGGAGAACCATATACTCT 0.353 26 51 --- --- --- --- ITGB6 3694 broad.mit.edu 37 2 160998560 160998561 + In_Frame_Ins INS - - CAGGAA TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr2:160998560_160998561insCAGGAA ENST00000283249.2 - 8 1276_1277 c.1039_1040insTTCCTG c.(1039-1041)gga>gTTCCTGga p.346_347insVP ITGB6_ENST00000409872.1_In_Frame_Ins_p.346_347insVP|ITGB6_ENST00000409967.2_In_Frame_Ins_p.346_347insVP|ITGB6_ENST00000428609.2_In_Frame_Ins_p.304_305insVP|ITGB6_ENST00000485635.1_5'UTR NM_001282353.1|NM_001282354.1|NM_001282388.1 NP_001269282.1|NP_001269283.1|NP_001269317.1 P18564 ITB6_HUMAN integrin, beta 6 346 VWFA. 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 TACTGTAGCTCCAGGAATAAGT 0.401 9 18 --- --- --- --- SYN2 6854 broad.mit.edu 37 3 12188689 12188690 + RNA DEL GT GT - TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr3:12188689_12188690delGT ENST00000432424.2 + 0 856 Q86VA8 Q86VA8_HUMAN synapsin II neurotransmitter secretion synaptic vesicle ATP binding|ligase activity breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1) 18 CTGAAGAGGGgtgtgtgtgtgt 0.446 2 4 --- --- --- --- PTPN23 25930 broad.mit.edu 37 3 47448043 47448054 + In_Frame_Del DEL CAGAAGGACTGG CAGAAGGACTGG - TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr3:47448043_47448054delCAGAAGGACTGG ENST00000265562.4 + 8 777_788 c.700_711delCAGAAGGACTGG c.(700-711)cagaaggactggdel p.QKDW234del PTPN23_ENST00000431726.1_In_Frame_Del_p.QKDW108del NM_015466.2 NP_056281.1 Q9H3S7 PTN23_HUMAN protein tyrosine phosphatase, non-receptor type 23 234 BRO1. cilium morphogenesis cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body protein tyrosine phosphatase activity breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 23 BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) GGGCCGGATCCAGAAGGACTGGAAGAAACTTG 0.623 19 41 --- --- --- --- ACPP 55 broad.mit.edu 37 3 132071669 132071676 + Splice_Site DEL TAAGTGAC TAAGTGAC - TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr3:132071669_132071676delTAAGTGAC ENST00000336375.5 + 9 1058 c.e9+2 ACPP_ENST00000475741.1_Splice_Site|ACPP_ENST00000351273.7_Splice_Site NM_001099.4 NP_001090.2 P15309 PPAP_HUMAN acid phosphatase, prostate 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 TGAGAAGGGGTAAGTGACTAAGTGCTTT 0.413 15 52 --- --- --- --- IL31RA 133396 broad.mit.edu 37 5 55147449 55147455 + Frame_Shift_Del DEL TCCGCAA TCCGCAA - rs140079651 by1000genomes TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr5:55147449_55147455delTCCGCAA ENST00000447346.2 + 1 116_122 c.51_57delTCCGCAA c.(49-57)tgtccgcaafs p.CPQ17fs IL31RA_ENST00000359040.5_Frame_Shift_Del_p.CPQ17fs|IL31RA_ENST00000396836.2_Frame_Shift_Del_p.CPQ17fs|IL31RA_ENST00000396834.1_5'UTR NM_001242636.1|NM_139017.5 NP_001229565.1|NP_620586.3 Q8NI17 IL31R_HUMAN interleukin 31 receptor A 0 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) tctgtgaatgtccgcaaaacattgtga 0.425 27 105 --- --- --- --- MIR9-2 407047 broad.mit.edu 37 5 87980814 87980816 + RNA DEL GAG GAG - TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr5:87980814_87980816delGAG ENST00000510274.1 + 0 46 ggaggaggaagaggaggaggagg 0.581 2 4 --- --- --- --- RNF145 153830 broad.mit.edu 37 5 158630629 158630630 + Frame_Shift_Ins INS - - T rs114633421 byFrequency TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr5:158630629_158630630insT ENST00000274542.2 - 2 106_107 c.80_81insA c.(79-81)aacfs p.N27fs RNF145_ENST00000520638.1_Frame_Shift_Ins_p.N13fs|RNF145_ENST00000521606.2_Frame_Shift_Ins_p.N16fs|RNF145_ENST00000424310.2_5'UTR|RNF145_ENST00000518802.1_Frame_Shift_Ins_p.N29fs|RNF145_ENST00000519865.1_5'UTR NM_144726.2 NP_653327.1 Q96MT1 RN145_HUMAN ring finger protein 145 0 integral to membrane zinc ion binding p.N27K(1) endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 30 Renal(175;0.00196) Medulloblastoma(196;0.0523) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) CAGCCATGTTGttttttttttt 0.376 7 64 --- --- --- --- EEF1A1 1915 broad.mit.edu 37 6 74228432 74228440 + In_Frame_Del DEL TAGACATCC TAGACATCC - TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr6:74228432_74228440delTAGACATCC ENST00000316292.9 - 4 1744_1752 c.753_761delGGATGTCTA c.(751-762)caggatgtctac>cac p.251_254QDVY>H EEF1A1_ENST00000309268.6_In_Frame_Del_p.251_254QDVY>H|EEF1A1_ENST00000491404.1_Intron|EEF1A1_ENST00000331523.2_In_Frame_Del_p.251_254QDVY>H NM_001402.5 NP_001393.1 P68104 EF1A1_HUMAN eukaryotic translation elongation factor 1 alpha 1 251 cytosol|eukaryotic translation elongation factor 1 complex GTP binding|GTPase activity|protein binding|translation elongation factor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3) 18 ACCAATTTTGTAGACATCCTGGAGAGGCA 0.455 OREG0003895 type=REGULATORY REGION|Gene=D16891|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay 22 65 --- --- --- --- ADAM22 53616 broad.mit.edu 37 7 87564353 87564365 + Frame_Shift_Del DEL TGATGGAGCTAGA TGATGGAGCTAGA - TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr7:87564353_87564365delTGATGGAGCTAGA ENST00000398204.4 + 2 421_433 c.98_110delTGATGGAGCTAGA c.(97-111)ttgatggagctagagfs p.LMELE33fs ADAM22_ENST00000439864.1_Frame_Shift_Del_p.LMELE33fs|ADAM22_ENST00000398201.4_Frame_Shift_Del_p.LMELE33fs|ADAM22_ENST00000315984.7_Frame_Shift_Del_p.LMELE33fs|ADAM22_ENST00000398209.3_Frame_Shift_Del_p.LMELE33fs|ADAM22_ENST00000265727.7_Frame_Shift_Del_p.LMELE33fs NM_016351.4|NM_021723.3 NP_057435.2|NP_068369.1 Q9P0K1 ADA22_HUMAN ADAM metallopeptidase domain 22 33 cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis integral to membrane integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3) 53 Esophageal squamous(14;0.00202) STAD - Stomach adenocarcinoma(171;0.215) GACGCCTCATTGATGGAGCTAGAGAAGAGGAAG 0.592 11 78 --- --- --- --- PTK2 5747 broad.mit.edu 37 8 141669683 141669709 + In_Frame_Del DEL TGCTGGAGGCTGGTCATGACATACTGC TGCTGGAGGCTGGTCATGACATACTGC - TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr8:141669683_141669709delTGCTGGAGGCTGGTCATGACATACTGC ENST00000522684.1 - 32 3244_3270 c.3015_3041delGCAGTATGTCATGACCAGCCTCCAGCA c.(3013-3042)cagcagtatgtcatgaccagcctccagcaa>caa p.1005_1014QQYVMTSLQQ>Q PTK2_ENST00000430260.2_In_Frame_Del_p.315_324QQYVMTSLQQ>Q|PTK2_ENST00000517887.1_In_Frame_Del_p.1049_1058QQYVMTSLQQ>Q|PTK2_ENST00000519419.1_In_Frame_Del_p.1049_1058QQYVMTSLQQ>Q|PTK2_ENST00000395218.2_In_Frame_Del_p.1018_1027QQYVMTSLQQ>Q|PTK2_ENST00000538769.1_In_Frame_Del_p.673_682QQYVMTSLQQ>Q|PTK2_ENST00000340930.3_In_Frame_Del_p.1018_1027QQYVMTSLQQ>Q|PTK2_ENST00000517712.1_In_Frame_Del_p.68_77QQYVMTSLQQ>Q|PTK2_ENST00000519465.1_In_Frame_Del_p.633_642QQYVMTSLQQ>Q|PTK2_ENST00000535192.1_In_Frame_Del_p.959_968QQYVMTSLQQ>Q|PTK2_ENST00000521059.1_In_Frame_Del_p.1005_1014QQYVMTSLQQ>Q NM_153831.3 NP_722560.1 Q05397 FAK1_HUMAN protein tyrosine kinase 2 1005 Interaction with RGNEF (By similarity).|Interaction with TGFB1I1. axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly cytoskeleton|cytosol|focal adhesion ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1) 48 all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) Ovarian(118;2.72e-05)|Breast(495;0.159) BRCA - Breast invasive adenocarcinoma(115;0.137) TTTGTACTCTTGCTGGAGGCTGGTCATGACATACTGCTGGGCCAGTT 0.476 12 72 --- --- --- --- ANKRD52 283373 broad.mit.edu 37 12 56637599 56637600 + Frame_Shift_Ins INS - - A TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr12:56637599_56637600insA ENST00000267116.7 - 27 3070_3071 c.2949_2950insT c.(2947-2952)catgggfs p.G984fs ANKRD52_ENST00000548241.1_5'UTR NM_173595.3 NP_775866.2 Q8NB46 ANR52_HUMAN ankyrin repeat domain 52 984 protein binding endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1) 29 ACTGTGGCCCCATGACTCAGCA 0.559 2 4 --- --- --- --- STAT6 6778 broad.mit.edu 37 12 57496234 57496236 + In_Frame_Del DEL TCT TCT - TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr12:57496234_57496236delTCT ENST00000300134.3 - 13 1674_1676 c.1349_1351delAGA c.(1348-1353)aagatg>atg p.K450del STAT6_ENST00000454075.3_In_Frame_Del_p.K450del|STAT6_ENST00000538913.2_In_Frame_Del_p.K340del|STAT6_ENST00000556155.1_In_Frame_Del_p.K450del|STAT6_ENST00000537215.2_In_Frame_Del_p.K340del|STAT6_ENST00000543873.2_In_Frame_Del_p.K450del NM_001178078.1|NM_003153.4 NP_001171549.1|NP_003144.3 P42226 STAT6_HUMAN signal transducer and activator of transcription 6, interleukin-4 induced 450 regulation of transcription from RNA polymerase II promoter cytosol|nucleus calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1) 28 GTTTCACACATCTTCTCCCAGGG 0.586 25 67 --- --- --- --- TRHDE 29953 broad.mit.edu 37 12 72771813 72771814 + In_Frame_Ins INS - - TCCGGGGAC TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr12:72771813_72771814insTCCGGGGAC ENST00000261180.4 + 3 1188_1189 c.1092_1093insTCCGGGGAC c.(1093-1095)tcc>TCCGGGGACtcc p.365_365S>SGDS NM_013381.2 NP_037513.1 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 365 cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 79 TCAGAAGAGGATCCGGGGACTA 0.332 23 46 --- --- --- --- FREM2 341640 broad.mit.edu 37 13 39432016 39432017 + Frame_Shift_Ins INS - - GA rs41286130 byFrequency TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr13:39432016_39432017insGA ENST00000280481.7 + 13 7277_7278 c.7061_7062insGA c.(7060-7065)acgaaafs p.K2355fs NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 2355 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) TTCTAGTTGACGAAAGCCATTG 0.401 30 52 --- --- --- --- ARHGAP5 394 broad.mit.edu 37 14 32561088 32561091 + Frame_Shift_Del DEL CTGA CTGA - TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr14:32561088_32561091delCTGA ENST00000345122.3 + 2 1528_1531 c.1213_1216delCTGA c.(1213-1218)ctgagcfs p.LS405fs ARHGAP5_ENST00000432921.1_Frame_Shift_Del_p.LS405fs|ARHGAP5_ENST00000556611.1_Frame_Shift_Del_p.LS405fs|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000539826.2_Frame_Shift_Del_p.LS405fs|ARHGAP5_ENST00000396582.2_Intron NM_001030055.1 NP_001025226.1 Q13017 RHG05_HUMAN Rho GTPase activating protein 5 405 FF 2. cell adhesion|Rho protein signal transduction cytosol|membrane GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4) 55 Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186) LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173) GBM - Glioblastoma multiforme(265;0.00566) ATTTGACCTCCTGAGCACTTTAGA 0.387 37 81 --- --- --- --- FOXA1 3169 broad.mit.edu 37 14 38061341 38061351 + Frame_Shift_Del DEL GTTCTGCCAGC GTTCTGCCAGC - TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr14:38061341_38061351delGTTCTGCCAGC ENST00000250448.2 - 2 699_709 c.638_648delGCTGGCAGAAC c.(637-648)cgctggcagaacfs p.RWQN213fs FOXA1_ENST00000540786.1_Frame_Shift_Del_p.RWQN180fs|FOXA1_ENST00000545425.2_5'UTR NM_004496.3 NP_004487.2 P55317 FOXA1_HUMAN forkhead box A1 213 chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development 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 transcription factor activity involved in positive regulation of transcription|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|transcription regulatory region DNA binding breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12) 19 Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213) Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239) GBM - Glioblastoma multiforme(112;0.0222) GGCGGATGGAGTTCTGCCAGCGCTGCTGGTT 0.616 35 64 --- --- --- --- DCAF5 8816 broad.mit.edu 37 14 69522027 69522029 + In_Frame_Del DEL GAG GAG - TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr14:69522027_69522029delGAG ENST00000341516.5 - 9 1521_1523 c.1374_1376delCTC c.(1372-1377)gactca>gaa p.458_459DS>E DCAF5_ENST00000553293.1_5'UTR|DCAF5_ENST00000554215.1_In_Frame_Del_p.376_377DS>E|DCAF5_ENST00000557386.1_In_Frame_Del_p.457_458DS>E|DCAF5_ENST00000556847.1_In_Frame_Del_p.376_377DS>E NM_001284206.1|NM_001284207.1|NM_003861.2 NP_001271135.1|NP_001271136.1|NP_003852.1 Q96JK2 DCAF5_HUMAN DDB1 and CUL4 associated factor 5 458 CUL4 RING ubiquitin ligase complex breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2) 29 CGAAGACTCTGAGTCAGTGTAGC 0.611 25 33 --- --- --- --- HEXIM1 10614 broad.mit.edu 37 17 43226653 43226653 + Frame_Shift_Del DEL C C - TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr17:43226653delC ENST00000332499.2 + 1 1970 c.96delC c.(94-96)cgcfs p.R32fs NM_006460.2 NP_006451.1 O94992 HEXI1_HUMAN hexamethylene bis-acetamide inducible 1 32 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 breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 11 ACCCTGAGCGCCCCCCAGGCG 0.632 OREG0024474 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 319 --- --- --- --- AP001604.3 0 broad.mit.edu 37 21 28793489 28793490 + RNA INS - - T rs144948060 TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 Untested Somatic Phase_I WXS none Illumina GAIIx 56353e31-fc6c-47ce-91a6-ef8e4be3e8ef ad6a5ded-ca1f-4587-92c2-c44f11f8a06b g.chr21:28793489_28793490insT ENST00000420186.2 - 0 202 atttttttttcttttttttttt 0.347 4 4 --- --- --- ---